NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003472971]|Usher syndrome type 1 [RCV001835621]|Usher syndrome type 1D [RCV000005197]|not provided [RCV001566890] |
Chr10:71739772 [GRCh38] Chr10:73499529 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000763215]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002272010]|CDH23-Related Disorders [RCV000405146]|Childhood onset hearing loss [RCV001328020]|Inborn genetic diseases [RCV002512799]|Pituitary adenoma 5, multiple types [RCV003472972]|Rare genetic deafness [RCV000844622]|Retinal dystrophy [RCV001073594]|Usher syndrome [RCV002222340]|Usher syndrome type 1 [RCV001274889]|Usher syndrome type 1D [RCV000005198]|not provided [RCV000254732] |
Chr10:71779316 [GRCh38] Chr10:73539073 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del) |
microsatellite |
Usher syndrome type 1D [RCV000005199] |
Chr10:71732109..71732111 [GRCh38] Chr10:73491866..73491868 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.7362+5G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003472973]|Rare genetic deafness [RCV000844693]|Usher syndrome type 1D [RCV000005200]|not provided [RCV001851662] |
Chr10:71799634 [GRCh38] Chr10:73559391 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000005201]|Hearing loss, autosomal recessive [RCV001291217]|Pituitary adenoma 5, multiple types [RCV003472974] |
Chr10:71791215 [GRCh38] Chr10:73550972 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000005202]|Hearing loss, autosomal recessive [RCV001291219]|Pituitary adenoma 5, multiple types [RCV003472975]|Usher syndrome [RCV003387716]|Usher syndrome type 1 [RCV001831514]|not provided [RCV000818407] |
Chr10:71793532 [GRCh38] Chr10:73553289 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter) |
single nucleotide variant |
Hearing loss, autosomal recessive [RCV001291211]|Usher syndrome type 1D [RCV000005203]|not provided [RCV001386699] |
Chr10:71732151 [GRCh38] Chr10:73491908 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000005204]|Autosomal recessive nonsyndromic hearing loss 12 [RCV000710063]|Pituitary adenoma 5, multiple types [RCV003472976]|Rare genetic deafness [RCV000599622]|Usher syndrome type 1 [RCV001826421]|Usher syndrome type 1D [RCV000385938]|not provided [RCV000809058] |
Chr10:71793370 [GRCh38] Chr10:73553127 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000005205]|Pituitary adenoma 5, multiple types [RCV003472977]|Usher syndrome type 1 [RCV001272891]|not provided [RCV000436619] |
Chr10:71732292 [GRCh38] Chr10:73492049 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.5663T>C (p.Phe1888Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000005206]|not provided [RCV001851663] |
Chr10:71785051 [GRCh38] Chr10:73544808 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.193del (p.Leu65fs) |
deletion |
USHER SYNDROME, TYPE ID/F, DIGENIC [RCV000005208]|Usher syndrome type 1 [RCV000215123]|Usher syndrome type 1D [RCV000005207]|not provided [RCV000254862] |
Chr10:71510125 [GRCh38] Chr10:73269882 [GRCh37] Chr10:10q22.1 |
pathogenic|not provided |
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002482830]|USHER SYNDROME, TYPE ID/F, DIGENIC [RCV000005209]|Usher syndrome [RCV000787978]|Usher syndrome type 1 [RCV000222140]|not provided [RCV001358062]|not specified [RCV000039312] |
Chr10:71812822 [GRCh38] Chr10:73572579 [GRCh37] Chr10:10q22.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000263856]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002490319]|Usher syndrome [RCV000787989]|Usher syndrome type 1 [RCV000217147]|Usher syndrome type 1D [RCV000005210]|not provided [RCV000086973]|not specified [RCV000039159] |
Chr10:71730514 [GRCh38] Chr10:73490271 [GRCh37] Chr10:10q22.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000005211]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002476931]|Nonsyndromic genetic hearing loss [RCV001261012]|Pituitary adenoma 5, multiple types [RCV003472978]|Usher syndrome type 1 [RCV001831515]|Usher syndrome type 1D [RCV001106128]|not provided [RCV001205177] |
Chr10:71570884 [GRCh38] Chr10:73330641 [GRCh37] Chr10:10q22.1 |
pathogenic|uncertain significance |
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000005212]|Nonsyndromic genetic hearing loss [RCV001775064]|Pituitary adenoma 5, multiple types [RCV003472979]|Usher syndrome [RCV003478971]|not provided [RCV000173892] |
Chr10:71615573 [GRCh38] Chr10:73375330 [GRCh37] Chr10:10q22.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.5146C>A (p.Gln1716Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002535102]|Usher syndrome type 1 [RCV001830601]|not provided [RCV000729016] |
Chr10:71778267 [GRCh38] Chr10:73538024 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8813C>T (p.Ala2938Val) |
single nucleotide variant |
not provided [RCV000728667] |
Chr10:71809910 [GRCh38] Chr10:73569667 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8914G>A (p.Glu2972Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103063]|Inborn genetic diseases [RCV002525225]|Usher syndrome type 1 [RCV001834705]|Usher syndrome type 1D [RCV001103062]|not provided [RCV000519679] |
Chr10:71810011 [GRCh38] Chr10:73569768 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2954-15C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103518]|Usher syndrome type 1D [RCV001103517]|not provided [RCV001510250]|not specified [RCV000603194] |
Chr10:71706882 [GRCh38] Chr10:73466639 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.3405G>T (p.Gly1135=) |
single nucleotide variant |
not provided [RCV002121829] |
Chr10:71724080 [GRCh38] Chr10:73483837 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3777C>T (p.Asp1259=) |
single nucleotide variant |
not provided [RCV001494484] |
Chr10:71732048 [GRCh38] Chr10:73491805 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1853A>G (p.Tyr618Cys) |
single nucleotide variant |
not provided [RCV000521699]|not specified [RCV000825300] |
Chr10:71679487 [GRCh38] Chr10:73439244 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1290+11A>C |
single nucleotide variant |
not provided [RCV001494079] |
Chr10:71645991 [GRCh38] Chr10:73405748 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2854G>A (p.Glu952Lys) |
single nucleotide variant |
not provided [RCV000766714]|not specified [RCV000520188] |
Chr10:71705031 [GRCh38] Chr10:73464788 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1061G>A (p.Ser354Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103163]|Usher syndrome type 1 [RCV001275922]|Usher syndrome type 1D [RCV001103162]|not provided [RCV001245675]|not specified [RCV000039092] |
Chr10:71617320 [GRCh38] Chr10:73377077 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1068C>T (p.Ala356=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105076]|Usher syndrome type 1D [RCV001105075]|not provided [RCV000902946]|not specified [RCV000039093] |
Chr10:71617327 [GRCh38] Chr10:73377084 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000271614]|CDH23-Related Disorders [RCV000366238]|Usher syndrome type 1 [RCV001826562]|Usher syndrome type 1D [RCV000311670]|not provided [RCV000952607]|not specified [RCV000039094] |
Chr10:71617337 [GRCh38] Chr10:73377094 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
NM_022124.6(CDH23):c.1135-7T>C |
single nucleotide variant |
not provided [RCV000838217]|not specified [RCV000039095] |
Chr10:71643854 [GRCh38] Chr10:73403611 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.1185C>T (p.Ser395=) |
single nucleotide variant |
not provided [RCV000724358]|not specified [RCV000039096] |
Chr10:71645875 [GRCh38] Chr10:73405632 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1206G>A (p.Pro402=) |
single nucleotide variant |
not provided [RCV000931553]|not specified [RCV000039097] |
Chr10:71645896 [GRCh38] Chr10:73405653 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1246_1266del (p.Ala416_Glu422del) |
deletion |
Rare genetic deafness [RCV000150273]|not provided [RCV001852818] |
Chr10:71645935..71645955 [GRCh38] Chr10:73405693..73405713 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000359188]|Usher syndrome type 1 [RCV001826563]|Usher syndrome type 1D [RCV000264246]|not provided [RCV000755902]|not specified [RCV000039099] |
Chr10:71646475 [GRCh38] Chr10:73406232 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108435]|Usher syndrome type 1 [RCV001835648]|Usher syndrome type 1D [RCV001108436]|not provided [RCV000959876]|not specified [RCV000039100] |
Chr10:71646591 [GRCh38] Chr10:73406348 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.1428G>T (p.Gly476=) |
single nucleotide variant |
not provided [RCV001307015]|not specified [RCV000039101] |
Chr10:71646596 [GRCh38] Chr10:73406353 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.1446C>A (p.Val482=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275926]|not provided [RCV000726725]|not specified [RCV000039102] |
Chr10:71646614 [GRCh38] Chr10:73406371 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1449+130T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533645]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002490533]|Usher syndrome type 1D [RCV001533644]|not specified [RCV000039103] |
Chr10:71646747 [GRCh38] Chr10:73406504 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1449+76C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002490534]|not provided [RCV000991772]|not specified [RCV000039104] |
Chr10:71646693 [GRCh38] Chr10:73406450 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting data from submitters |
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000374235]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002496624]|Retinitis pigmentosa-deafness syndrome [RCV000319631]|Usher syndrome type 1 [RCV001835649]|Usher syndrome type 1D [RCV001094063]|not provided [RCV001521163]|not specified [RCV000039105] |
Chr10:71675131 [GRCh38] Chr10:73434888 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103252]|Usher syndrome type 1D [RCV001103251]|not provided [RCV001288115]|not specified [RCV000039106] |
Chr10:71675134 [GRCh38] Chr10:73434891 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1478G>A (p.Gly493Glu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831654]|not provided [RCV001852819]|not specified [RCV000039107] |
Chr10:71675140 [GRCh38] Chr10:73434897 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000279658]|Usher syndrome type 1 [RCV001271845]|Usher syndrome type 1D [RCV000316088]|not provided [RCV001520016]|not specified [RCV000039108] |
Chr10:71675149 [GRCh38] Chr10:73434906 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.1520C>T (p.Ser507Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002513523]|Usher syndrome type 1 [RCV001275927]|not provided [RCV001248758]|not specified [RCV000039109] |
Chr10:71677461 [GRCh38] Chr10:73437218 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1584C>T (p.Arg528=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000349509]|CDH23-Related Disorders [RCV000294474]|Usher syndrome type 1 [RCV001831655]|Usher syndrome type 1D [RCV000388867]|not provided [RCV000941887]|not specified [RCV000039110] |
Chr10:71677525 [GRCh38] Chr10:73437282 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.1620C>T (p.Gly540=) |
single nucleotide variant |
not provided [RCV000890852]|not specified [RCV000039111] |
Chr10:71677561 [GRCh38] Chr10:73437318 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003278657]|Usher syndrome type 1 [RCV001826564]|not provided [RCV001042981]|not specified [RCV000039112] |
Chr10:71677578 [GRCh38] Chr10:73437335 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1665C>T (p.Asn555=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000302283]|CDH23-Related Disorders [RCV000401267]|Usher syndrome type 1 [RCV001831656]|Usher syndrome type 1D [RCV000357158]|not provided [RCV001475080]|not specified [RCV000039113] |
Chr10:71677606 [GRCh38] Chr10:73437363 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.1685A>G (p.Gln562Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559224]|Usher syndrome type 1 [RCV001826565]|Usher syndrome type 1D [RCV001559225]|not provided [RCV001060451]|not specified [RCV000039114] |
Chr10:71677626 [GRCh38] Chr10:73437383 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104871]|Usher syndrome type 1 [RCV001276797]|Usher syndrome type 1D [RCV001102960]|not provided [RCV000891460]|not specified [RCV000039115] |
Chr10:71510109 [GRCh38] Chr10:73269866 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000285125]|CDH23-Related Disorders [RCV000395157]|Usher syndrome [RCV003389446]|Usher syndrome type 1 [RCV001275932]|Usher syndrome type 1D [RCV000340118]|not provided [RCV000882018]|not specified [RCV000039116] |
Chr10:71679448 [GRCh38] Chr10:73439205 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1866C>T (p.Ser622=) |
single nucleotide variant |
not provided [RCV000885624]|not specified [RCV000039117] |
Chr10:71682452 [GRCh38] Chr10:73442209 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.198G>A (p.Val66=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000372580]|Usher syndrome type 1 [RCV001275411]|Usher syndrome type 1D [RCV000315724]|not provided [RCV000954553]|not specified [RCV000039118] |
Chr10:71510134 [GRCh38] Chr10:73269891 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
NM_022124.6(CDH23):c.2012del (p.Phe671fs) |
deletion |
Rare genetic deafness [RCV000039119] |
Chr10:71687671 [GRCh38] Chr10:73447428 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.204C>T (p.Gly68=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000261646]|Usher syndrome type 1 [RCV001276798]|Usher syndrome type 1D [RCV000319252]|not provided [RCV000891461]|not specified [RCV000039120] |
Chr10:71510140 [GRCh38] Chr10:73269897 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.2149A>G (p.Thr717Ala) |
single nucleotide variant |
not specified [RCV000039121] |
Chr10:71690557 [GRCh38] Chr10:73450314 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2193G>C (p.Thr731=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831657]|not provided [RCV000909993]|not specified [RCV000039122] |
Chr10:71694163 [GRCh38] Chr10:73453920 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000377652]|Pituitary adenoma 5, multiple types [RCV001197523]|Usher syndrome type 1 [RCV001275938]|Usher syndrome type 1D [RCV000283099]|not provided [RCV000755905]|not specified [RCV000039123] |
Chr10:71694209 [GRCh38] Chr10:73453966 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001331230]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002477109]|Non-Syndromic Hereditary Hearing Impairment [RCV001034601]|Nonsyndromic genetic hearing loss [RCV001089680]|Retinitis pigmentosa [RCV000787557]|Retinitis pigmentosa-deafness syndrome [RCV000988379]|Usher syndrome type 1 [RCV001275939]|Usher syndrome type 1D [RCV001526743]|not provided [RCV000487684]|not specified [RCV000039124] |
Chr10:71694233 [GRCh38] Chr10:73453990 [GRCh37] Chr10:10q22.1 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2290-13del |
deletion |
CDH23-Related Disorders [RCV000279741]|Nonsyndromic Hearing Loss, Recessive [RCV000374020]|Retinitis pigmentosa-deafness syndrome [RCV000338089]|not provided [RCV001513575]|not specified [RCV000039125] |
Chr10:71695404 [GRCh38] Chr10:73455161 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2316T>C (p.Asn772=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000349454]|Usher syndrome type 1 [RCV001271849]|Usher syndrome type 1D [RCV000394281]|not provided [RCV001512139]|not specified [RCV000039126] |
Chr10:71695444 [GRCh38] Chr10:73455201 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.2330C>A (p.Thr777Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001271850]|not provided [RCV000658191]|not specified [RCV000039127] |
Chr10:71695458 [GRCh38] Chr10:73455215 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000270255]|CDH23-Related Disorders [RCV000364525]|Usher syndrome type 1 [RCV001831658]|Usher syndrome type 1D [RCV000309836]|not provided [RCV000888827]|not specified [RCV000039128] |
Chr10:71695465 [GRCh38] Chr10:73455222 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2388T>C (p.Asp796=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000322204]|Usher syndrome type 1 [RCV001271851]|Usher syndrome type 1D [RCV000266647]|not provided [RCV001512140]|not specified [RCV000039129] |
Chr10:71695516 [GRCh38] Chr10:73455273 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000376878]|Usher syndrome type 1 [RCV001271852]|Usher syndrome type 1D [RCV000263594]|not provided [RCV001521164]|not specified [RCV000039130] |
Chr10:71702048 [GRCh38] Chr10:73461805 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000294284]|Usher syndrome type 1 [RCV001275943]|Usher syndrome type 1D [RCV000349179]|not provided [RCV000887995]|not specified [RCV000039131] |
Chr10:71702196 [GRCh38] Chr10:73461953 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002496625]|Usher syndrome type 1 [RCV001826566]|not provided [RCV001753450]|not specified [RCV000039132] |
Chr10:71510205 [GRCh38] Chr10:73269962 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2781C>T (p.Tyr927=) |
single nucleotide variant |
not provided [RCV000905728]|not specified [RCV000039133] |
Chr10:71704958 [GRCh38] Chr10:73464715 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.2790G>A (p.Pro930=) |
single nucleotide variant |
not provided [RCV002513524]|not specified [RCV000039134] |
Chr10:71704967 [GRCh38] Chr10:73464724 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106482]|Usher syndrome type 1 [RCV001831659]|Usher syndrome type 1D [RCV001106481]|not provided [RCV000585571]|not specified [RCV000039135] |
Chr10:71705007 [GRCh38] Chr10:73464764 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2840T>A (p.Val947Glu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826567]|not provided [RCV002510776]|not specified [RCV000039136] |
Chr10:71705017 [GRCh38] Chr10:73464774 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106483]|Usher syndrome type 1 [RCV001272548]|Usher syndrome type 1D [RCV001106484]|not provided [RCV000488332]|not specified [RCV000039137] |
Chr10:71705055 [GRCh38] Chr10:73464812 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106486]|CDH23-related condition [RCV003407407]|Usher syndrome type 1 [RCV001271854]|Usher syndrome type 1D [RCV001106485]|not provided [RCV000724091]|not specified [RCV000039138] |
Chr10:71705068 [GRCh38] Chr10:73464825 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2958G>A (p.Leu986=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103520]|Usher syndrome type 1 [RCV001271855]|Usher syndrome type 1D [RCV001103519]|not provided [RCV000962019]|not specified [RCV000039139] |
Chr10:71706901 [GRCh38] Chr10:73466658 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.3070G>A (p.Val1024Met) |
single nucleotide variant |
not provided [RCV000994438]|not specified [RCV000039140] |
Chr10:71707013 [GRCh38] Chr10:73466770 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105454]|Childhood onset hearing loss [RCV001328026]|Usher syndrome type 1 [RCV001272552]|Usher syndrome type 1D [RCV001105453]|not provided [RCV000839197]|not specified [RCV000039141] |
Chr10:71707017 [GRCh38] Chr10:73466774 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106595]|Inborn genetic diseases [RCV002513525]|Usher syndrome type 1 [RCV001271860]|Usher syndrome type 1D [RCV001106596]|not provided [RCV000757073]|not specified [RCV000039142] |
Chr10:71707035 [GRCh38] Chr10:73466792 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826568]|not provided [RCV001243389]|not specified [RCV000039143] |
Chr10:71709124 [GRCh38] Chr10:73468881 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000382245]|Usher syndrome type 1 [RCV001826569]|Usher syndrome type 1D [RCV000325350]|not provided [RCV000967170]|not specified [RCV000039144] |
Chr10:71712693 [GRCh38] Chr10:73472450 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000376393]|Autosomal recessive nonsyndromic hearing loss 12 [RCV000764914]|CDH23-Related Disorders [RCV000285498]|Usher syndrome type 1 [RCV001271862]|Usher syndrome type 1D [RCV000324074]|not provided [RCV001041387]|not specified [RCV000039145] |
Chr10:71712706 [GRCh38] Chr10:73472463 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) |
single nucleotide variant |
Retinitis pigmentosa-deafness syndrome [RCV000988380]|Usher syndrome type 1 [RCV001272558]|not provided [RCV000755903]|not specified [RCV000039146] |
Chr10:71712737 [GRCh38] Chr10:73472494 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000406184]|CDH23-Related Disorders [RCV000351171]|Inborn genetic diseases [RCV003242971]|Usher syndrome type 1D [RCV000280070]|not provided [RCV000487639]|not specified [RCV000039147] |
Chr10:71712775 [GRCh38] Chr10:73472532 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3337G>C (p.Glu1113Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001271863]|not specified [RCV000039148] |
Chr10:71712781 [GRCh38] Chr10:73472538 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) |
single nucleotide variant |
Retinal dystrophy [RCV001075026]|Usher syndrome type 1 [RCV001272560]|not provided [RCV000724083]|not specified [RCV000039149] |
Chr10:71712805 [GRCh38] Chr10:73472562 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103614]|Usher syndrome type 1 [RCV001831660]|Usher syndrome type 1D [RCV001103613]|not provided [RCV000965142]|not specified [RCV000039150] |
Chr10:71712808 [GRCh38] Chr10:73472565 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002483003]|Pituitary adenoma 5, multiple types [RCV003473275]|Usher syndrome type 1 [RCV001272885]|not provided [RCV001056228]|not specified [RCV000039151] |
Chr10:71724072 [GRCh38] Chr10:73483829 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105554]|Usher syndrome type 1D [RCV001105553]|not provided [RCV000891539]|not specified [RCV000039152] |
Chr10:71725421 [GRCh38] Chr10:73485178 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002283447]|Hearing loss, autosomal recessive [RCV001291210]|Rare genetic deafness [RCV000039153]|not provided [RCV001852820] |
Chr10:71725422 [GRCh38] Chr10:73485179 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.3486G>T (p.Gly1162=) |
single nucleotide variant |
not provided [RCV000976488]|not specified [RCV000039154] |
Chr10:71725427 [GRCh38] Chr10:73485184 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3550G>A (p.Asp1184Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831661]|not provided [RCV001852821]|not specified [RCV000039155] |
Chr10:71725491 [GRCh38] Chr10:73485248 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105557]|Usher syndrome type 1 [RCV001826570]|Usher syndrome type 1D [RCV001106699]|not provided [RCV000886092]|not specified [RCV000039156] |
Chr10:71725515 [GRCh38] Chr10:73485272 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.3580-12C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000310732]|Usher syndrome type 1D [RCV000362989]|not provided [RCV001513134]|not specified [RCV000039157] |
Chr10:71730457 [GRCh38] Chr10:73490214 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108865]|Usher syndrome type 1 [RCV001272887]|Usher syndrome type 1D [RCV001108864]|not provided [RCV000968181]|not specified [RCV000039158] |
Chr10:71730508 [GRCh38] Chr10:73490265 [GRCh37] Chr10:10q22.1 |
benign|uncertain significance |
NM_022124.6(CDH23):c.3628C>T (p.Gln1210Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000039160] |
Chr10:71730517 [GRCh38] Chr10:73490274 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108867]|Usher syndrome type 1 [RCV001272888]|Usher syndrome type 1D [RCV001108866]|not provided [RCV000991775]|not specified [RCV000039161] |
Chr10:71730553 [GRCh38] Chr10:73490310 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.366T>C (p.Val122=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000380358]|Usher syndrome type 1 [RCV001276800]|Usher syndrome type 1D [RCV000288261]|not provided [RCV001512138]|not specified [RCV000039162] |
Chr10:71511149 [GRCh38] Chr10:73270906 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473276]|Rare genetic deafness [RCV000039163]|not provided [RCV000482326] |
Chr10:71730595 [GRCh38] Chr10:73490352 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103709]|Usher syndrome type 1 [RCV001272566]|Usher syndrome type 1D [RCV001103710]|not provided [RCV000723699]|not specified [RCV000039164] |
Chr10:71732072 [GRCh38] Chr10:73491829 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103711]|Meniere disease [RCV001797050]|Usher syndrome type 1 [RCV001272567]|Usher syndrome type 1D [RCV001103712]|not provided [RCV000950191]|not specified [RCV000039165] |
Chr10:71732116 [GRCh38] Chr10:73491873 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105663]|Usher syndrome type 1D [RCV001105662]|not provided [RCV001044674]|not specified [RCV000039166] |
Chr10:71732166 [GRCh38] Chr10:73491923 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3925G>A (p.Glu1309Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831662]|not provided [RCV002513526]|not specified [RCV000039167] |
Chr10:71732196 [GRCh38] Chr10:73491953 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000764916]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105665]|Usher syndrome type 1 [RCV001831663]|Usher syndrome type 1D [RCV001105664]|not provided [RCV000726811]|not specified [RCV000039168] |
Chr10:71732257 [GRCh38] Chr10:73492014 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105666]|Usher syndrome type 1 [RCV001831664]|Usher syndrome type 1D [RCV001105667]|not provided [RCV000885396]|not specified [RCV000039169] |
Chr10:71732270 [GRCh38] Chr10:73492027 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106790]|Usher syndrome type 1 [RCV001831665]|Usher syndrome type 1D [RCV001106789]|not provided [RCV000892452]|not specified [RCV000039170] |
Chr10:71732316 [GRCh38] Chr10:73492073 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000345614]|Retinitis pigmentosa-deafness syndrome [RCV000397439]|Usher syndrome type 1 [RCV001272892]|Usher syndrome type 1D [RCV001094003]|not provided [RCV001516031]|not specified [RCV000039171] |
Chr10:71732322 [GRCh38] Chr10:73492079 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000358294]|Usher syndrome type 1 [RCV001831666]|Usher syndrome type 1D [RCV000305911]|not provided [RCV000827160]|not specified [RCV000039172] |
Chr10:71732339 [GRCh38] Chr10:73492096 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.4210-7C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000383525]|Usher syndrome type 1 [RCV001272893]|Usher syndrome type 1D [RCV000331286]|not provided [RCV000959110]|not specified [RCV000039173] |
Chr10:71738491 [GRCh38] Chr10:73498248 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.429+13G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000371266]|Usher syndrome type 1D [RCV000313898]|not provided [RCV001513347]|not specified [RCV000039174] |
Chr10:71511225 [GRCh38] Chr10:73270982 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.429+4G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103055]|Nonsyndromic genetic hearing loss [RCV001089681]|Retinitis pigmentosa [RCV000787808]|Usher syndrome type 1D [RCV001103056]|not provided [RCV000941279]|not specified [RCV000039175] |
Chr10:71511216 [GRCh38] Chr10:73270973 [GRCh37] Chr10:10q22.1 |
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000344095]|Usher syndrome type 1 [RCV001272894]|Usher syndrome type 1D [RCV000291538]|not provided [RCV001521166]|not specified [RCV000039176] |
Chr10:71738587 [GRCh38] Chr10:73498344 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000763214]|Pituitary adenoma 5, multiple types [RCV003473277]|Rare genetic deafness [RCV000039177]|Usher syndrome type 1 [RCV001831667]|not provided [RCV000438508] |
Chr10:71738597 [GRCh38] Chr10:73498354 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105741]|Usher syndrome type 1 [RCV001272895]|Usher syndrome type 1D [RCV001103802]|not provided [RCV000086974]|not specified [RCV000039178] |
Chr10:71738598 [GRCh38] Chr10:73498355 [GRCh37] Chr10:10q22.1 |
benign|likely benign|not provided |
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000285582]|Usher syndrome type 1 [RCV001272896]|Usher syndrome type 1D [RCV000382311]|not provided [RCV000711152]|not specified [RCV000039179] |
Chr10:71738629 [GRCh38] Chr10:73498386 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.4359+11G>T |
single nucleotide variant |
not specified [RCV000039180] |
Chr10:71738658 [GRCh38] Chr10:73498415 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000764918]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106861]|Usher syndrome type 1 [RCV001273543]|Usher syndrome type 1D [RCV001106862]|not provided [RCV001244548]|not specified [RCV000039181] |
Chr10:71739675 [GRCh38] Chr10:73499432 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4498T>A (p.Ser1500Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826571]|not provided [RCV001246417]|not specified [RCV000039182] |
Chr10:71740831 [GRCh38] Chr10:73500588 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000396032]|Usher syndrome type 1 [RCV001272897]|Usher syndrome type 1D [RCV000354872]|not provided [RCV001521167]|not specified [RCV000039183] |
Chr10:71740842 [GRCh38] Chr10:73500599 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.4555G>C (p.Asp1519His) |
single nucleotide variant |
not specified [RCV000039184] |
Chr10:71740888 [GRCh38] Chr10:73500645 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.460G>A (p.Val154Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002513527]|Usher syndrome type 1 [RCV001826572]|not provided [RCV001047099]|not specified [RCV000039185] |
Chr10:71566772 [GRCh38] Chr10:73326529 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4617+8C>A |
single nucleotide variant |
not provided [RCV001404282]|not specified [RCV000039186] |
Chr10:71740958 [GRCh38] Chr10:73500715 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272898]|not provided [RCV000724264]|not specified [RCV000039187] |
Chr10:71741696 [GRCh38] Chr10:73501453 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.46del (p.Val16fs) |
deletion |
Rare genetic deafness [RCV000039188] |
Chr10:71439876 [GRCh38] Chr10:73199633 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000275255]|Retinitis pigmentosa-deafness syndrome [RCV000328065]|Usher syndrome type 1 [RCV001272900]|Usher syndrome type 1D [RCV001093952]|not provided [RCV001516032]|not specified [RCV000039189] |
Chr10:71741799 [GRCh38] Chr10:73501556 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104195]|Usher syndrome type 1D [RCV001104194]|not provided [RCV000915057]|not specified [RCV000039190] |
Chr10:71741918 [GRCh38] Chr10:73501675 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106972]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002490535]|Usher syndrome type 1 [RCV001272901]|Usher syndrome type 1D [RCV001104196]|not provided [RCV000991776]|not specified [RCV000039191] |
Chr10:71777692 [GRCh38] Chr10:73537449 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.4953C>T (p.Asn1651=) |
single nucleotide variant |
not provided [RCV001453442]|not specified [RCV000039192] |
Chr10:71777787 [GRCh38] Chr10:73537544 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273551]|not provided [RCV001039006]|not specified [RCV000039193] |
Chr10:71777843 [GRCh38] Chr10:73537600 [GRCh37] Chr10:10q22.1 |
pathogenic|uncertain significance |
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000310492]|Usher syndrome type 1 [RCV001272903]|Usher syndrome type 1D [RCV000394559]|not provided [RCV000086975]|not specified [RCV000039194] |
Chr10:71777857 [GRCh38] Chr10:73537614 [GRCh37] Chr10:10q22.1 |
benign|likely benign|not provided |
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000365175]|Usher syndrome type 1 [RCV001826573]|Usher syndrome type 1D [RCV000265777]|not provided [RCV000843702]|not specified [RCV000039195] |
Chr10:71777860 [GRCh38] Chr10:73537617 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000372199]|Inborn genetic diseases [RCV002513528]|Usher syndrome type 1 [RCV001273552]|Usher syndrome type 1D [RCV000317490]|not provided [RCV000723750]|not specified [RCV000039196] |
Chr10:71777884 [GRCh38] Chr10:73537641 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.5051G>C (p.Arg1684Pro) |
single nucleotide variant |
not provided [RCV001246670]|not specified [RCV000039197] |
Chr10:71777885 [GRCh38] Chr10:73537642 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000281904]|Autosomal recessive nonsyndromic hearing loss 12 [RCV000844910]|Usher syndrome type 1 [RCV001272904]|Usher syndrome type 1D [RCV000318225]|not provided [RCV000912043]|not specified [RCV000039198] |
Chr10:71777900 [GRCh38] Chr10:73537657 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000352137]|Usher syndrome type 1 [RCV001272905]|Usher syndrome type 1D [RCV000388097]|not provided [RCV001516033]|not specified [RCV000039199] |
Chr10:71778221 [GRCh38] Chr10:73537978 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.510C>T (p.Ser170=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104970]|Usher syndrome type 1 [RCV001276801]|Usher syndrome type 1D [RCV001103057]|not provided [RCV000899865]|not specified [RCV000039200] |
Chr10:71566822 [GRCh38] Chr10:73326579 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273554]|not provided [RCV000723698]|not specified [RCV000039201] |
Chr10:71778251 [GRCh38] Chr10:73538008 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002490536]|not provided [RCV000968182]|not specified [RCV000039202] |
Chr10:71778251 [GRCh38] Chr10:73538008 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.5200G>A (p.Val1734Met) |
single nucleotide variant |
not specified [RCV000039203] |
Chr10:71779279 [GRCh38] Chr10:73539036 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5219A>T (p.Asn1740Ile) |
single nucleotide variant |
not specified [RCV000039204] |
Chr10:71779298 [GRCh38] Chr10:73539055 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000309122]|Usher syndrome type 1 [RCV001274890]|Usher syndrome type 1D [RCV000340535]|not provided [RCV002513529]|not specified [RCV000039206] |
Chr10:71779327 [GRCh38] Chr10:73539084 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5272C>T (p.Gln1758Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000039207] |
Chr10:71779351 [GRCh38] Chr10:73539108 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000297276]|CDH23-Related Disorders [RCV000355896]|Usher syndrome type 1 [RCV001273557]|Usher syndrome type 1D [RCV000260759]|not provided [RCV000755231]|not specified [RCV000039208] |
Chr10:71779376 [GRCh38] Chr10:73539133 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107732]|Usher syndrome [RCV003389447]|Usher syndrome type 1D [RCV001107733]|not provided [RCV000972816]|not specified [RCV000039209] |
Chr10:71779391 [GRCh38] Chr10:73539148 [GRCh37] Chr10:10q22.1 |
likely pathogenic|benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.5353G>A (p.Asp1785Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831668]|not specified [RCV000039210] |
Chr10:71779432 [GRCh38] Chr10:73539189 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533705]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002504904]|Usher syndrome type 1 [RCV001274892]|Usher syndrome type 1D [RCV001104090]|not provided [RCV000124201]|not specified [RCV000039211] |
Chr10:71784336 [GRCh38] Chr10:73544093 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000764919]|Usher syndrome type 1 [RCV001273560]|not provided [RCV000882752]|not specified [RCV000039212] |
Chr10:71784328 [GRCh38] Chr10:73544085 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000389376]|Retinitis pigmentosa-deafness syndrome [RCV000276508]|Usher syndrome type 1 [RCV001274891]|Usher syndrome type 1D [RCV001093953]|not provided [RCV001517938]|not specified [RCV000039213] |
Chr10:71784329 [GRCh38] Chr10:73544086 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.5419G>A (p.Val1807Met) |
single nucleotide variant |
not provided [RCV000889908]|not specified [RCV000039214] |
Chr10:71784337 [GRCh38] Chr10:73544094 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.5471G>A (p.Arg1824His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273562]|not provided [RCV000724007]|not specified [RCV000039215] |
Chr10:71784389 [GRCh38] Chr10:73544146 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5499C>T (p.Ser1833=) |
single nucleotide variant |
not provided [RCV001404477]|not specified [RCV000039216] |
Chr10:71784417 [GRCh38] Chr10:73544174 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5503-10A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000378107]|Usher syndrome type 1 [RCV001274893]|Usher syndrome type 1D [RCV000346819]|not provided [RCV001521168]|not specified [RCV000039217] |
Chr10:71784881 [GRCh38] Chr10:73544638 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.5505G>A (p.Met1835Ile) |
single nucleotide variant |
Childhood onset hearing loss [RCV001328021]|not provided [RCV000730090]|not specified [RCV000039218] |
Chr10:71784893 [GRCh38] Chr10:73544650 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5523G>A (p.Val1841=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104395]|Usher syndrome type 1D [RCV001104396]|not provided [RCV001425718]|not specified [RCV000039219] |
Chr10:71784911 [GRCh38] Chr10:73544668 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104398]|Usher syndrome type 1 [RCV001831669]|Usher syndrome type 1D [RCV001104397]|not provided [RCV000970460]|not specified [RCV000039220] |
Chr10:71784929 [GRCh38] Chr10:73544686 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000298083]|Usher syndrome type 1 [RCV001275561]|Usher syndrome type 1D [RCV000403406]|not provided [RCV000839604]|not specified [RCV000039221] |
Chr10:71784932 [GRCh38] Chr10:73544689 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107147]|Inborn genetic diseases [RCV000210548]|Usher syndrome [RCV003389448]|Usher syndrome type 1 [RCV001275562]|Usher syndrome type 1D [RCV001107148]|not provided [RCV000912187]|not specified [RCV000039222] |
Chr10:71785048 [GRCh38] Chr10:73544805 [GRCh37] Chr10:10q22.1 |
likely pathogenic|benign|likely benign|uncertain significance|no classifications from unflagged records |
NM_022124.6(CDH23):c.5712+1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473278]|Rare genetic deafness [RCV000039223] |
Chr10:71785101 [GRCh38] Chr10:73544858 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473279]|Rare genetic deafness [RCV000039224]|Usher syndrome type 1 [RCV001826574]|not provided [RCV001852822] |
Chr10:71785100 [GRCh38] Chr10:73544857 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.5713-9A>G |
single nucleotide variant |
not provided [RCV001401588]|not specified [RCV000039225] |
Chr10:71785622 [GRCh38] Chr10:73545379 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp) |
single nucleotide variant |
Hearing impairment [RCV001375123]|Usher syndrome type 1 [RCV001826575]|not provided [RCV001241540]|not specified [RCV000039226] |
Chr10:71785652 [GRCh38] Chr10:73545409 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000325842]|CDH23-Related Disorders [RCV000385117]|CDH23-related condition [RCV003407408]|Usher syndrome type 1 [RCV001275564]|Usher syndrome type 1D [RCV000271728]|not provided [RCV000905205]|not specified [RCV000039227] |
Chr10:71785671 [GRCh38] Chr10:73545428 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.5831T>C (p.Leu1944Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835650]|not provided [RCV002513530]|not specified [RCV000039228] |
Chr10:71788950 [GRCh38] Chr10:73548707 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5869_5874del (p.Pro1957_Leu1958del) |
deletion |
not specified [RCV000039229] |
Chr10:71788987..71788992 [GRCh38] Chr10:73548744..73548749 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5923+1G>A |
single nucleotide variant |
Rare genetic deafness [RCV000039230] |
Chr10:71789043 [GRCh38] Chr10:73548800 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.5937G>A (p.Thr1979=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104487]|Usher syndrome type 1D [RCV001104488]|not provided [RCV000982067]|not specified [RCV000039231] |
Chr10:71790301 [GRCh38] Chr10:73550058 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000338564]|Usher syndrome type 1 [RCV001274897]|Usher syndrome type 1D [RCV000405485]|not provided [RCV001516034]|not specified [RCV000039232] |
Chr10:71790360 [GRCh38] Chr10:73550117 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.6026T>A (p.Leu2009His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826576]|not provided [RCV002513531]|not specified [RCV000039233] |
Chr10:71790390 [GRCh38] Chr10:73550147 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.6049+1G>A |
single nucleotide variant |
Hearing loss, autosomal recessive [RCV001291214]|Rare genetic deafness [RCV000039234]|not provided [RCV001054958] |
Chr10:71790414 [GRCh38] Chr10:73550171 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000763216]|Pituitary adenoma 5, multiple types [RCV003473280]|Rare genetic deafness [RCV000039235]|Usher syndrome type 1D [RCV001376240]|not provided [RCV001377826] |
Chr10:71790413 [GRCh38] Chr10:73550170 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.6050-9G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000763217]|Hearing loss, autosomal recessive [RCV001291215]|Pituitary adenoma 5, multiple types [RCV003473281]|Rare genetic deafness [RCV000039236]|Usher syndrome type 1 [RCV001274898]|not provided [RCV000239237] |
Chr10:71791123 [GRCh38] Chr10:73550880 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000307521]|Retinitis pigmentosa-deafness syndrome [RCV000362206]|Usher syndrome type 1 [RCV001274900]|Usher syndrome type 1D [RCV001094019]|not provided [RCV001521169]|not specified [RCV000039237] |
Chr10:71791212 [GRCh38] Chr10:73550969 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.6168C>T (p.Leu2056=) |
single nucleotide variant |
not provided [RCV000945206]|not specified [RCV000039238] |
Chr10:71791250 [GRCh38] Chr10:73551007 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.618C>T (p.Asn206=) |
single nucleotide variant |
not provided [RCV001425001]|not specified [RCV000039239] |
Chr10:71566930 [GRCh38] Chr10:73326687 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6196C>T (p.Arg2066Trp) |
single nucleotide variant |
not provided [RCV002513532]|not specified [RCV000039240] |
Chr10:71791278 [GRCh38] Chr10:73551035 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107895]|Usher syndrome type 1D [RCV001107894]|not provided [RCV000839198]|not specified [RCV000039241] |
Chr10:71791279 [GRCh38] Chr10:73551036 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107897]|Usher syndrome type 1 [RCV001274901]|Usher syndrome type 1D [RCV001107896]|not provided [RCV000965143]|not specified [RCV000039242] |
Chr10:71791331 [GRCh38] Chr10:73551088 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.6329C>T (p.Ala2110Val) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275571]|not provided [RCV000839250]|not specified [RCV000039243] |
Chr10:71793257 [GRCh38] Chr10:73553014 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.6412del (p.Glu2138fs) |
deletion |
Rare genetic deafness [RCV000039244] |
Chr10:71793339 [GRCh38] Chr10:73553096 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275575]|not provided [RCV000723748]|not specified [RCV000039245] |
Chr10:71793354 [GRCh38] Chr10:73553111 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831670]|not provided [RCV000724265]|not specified [RCV000039247] |
Chr10:71793417 [GRCh38] Chr10:73553174 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104583]|Usher syndrome type 1 [RCV001274903]|Usher syndrome type 1D [RCV001104584]|not provided [RCV000965144]|not specified [RCV000039248] |
Chr10:71793420 [GRCh38] Chr10:73553177 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826577]|not provided [RCV000755911]|not specified [RCV000039249] |
Chr10:71793524 [GRCh38] Chr10:73553281 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001331233]|Inborn genetic diseases [RCV000210550]|Pituitary adenoma 5, multiple types [RCV003473282]|Usher syndrome [RCV000758142]|Usher syndrome type 1D [RCV003152590]|not provided [RCV000171176]|not specified [RCV000039250] |
Chr10:71793542 [GRCh38] Chr10:73553299 [GRCh37] Chr10:10q22.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104587]|Usher syndrome type 1 [RCV001275577]|Usher syndrome type 1D [RCV001107333]|not provided [RCV000488048]|not specified [RCV000039251] |
Chr10:71793576 [GRCh38] Chr10:73553333 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107337]|Usher syndrome type 1 [RCV001826578]|Usher syndrome type 1D [RCV001107336]|not provided [RCV000888828]|not specified [RCV000039252] |
Chr10:71793615 [GRCh38] Chr10:73553372 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.67+12C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000276957]|Usher syndrome type 1D [RCV000369564]|not provided [RCV001513133]|not specified [RCV000039253] |
Chr10:71439910 [GRCh38] Chr10:73199667 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000351184]|CDH23-Related Disorders [RCV000288177]|Usher syndrome type 1 [RCV001274904]|Usher syndrome type 1D [RCV000391735]|not provided [RCV000905206]|not specified [RCV000039254] |
Chr10:71793633 [GRCh38] Chr10:73553390 [GRCh37] Chr10:10q22.1 |
benign|uncertain significance |
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000358418]|Usher syndrome type 1 [RCV001274906]|Usher syndrome type 1D [RCV000405522]|not provided [RCV000086976]|not specified [RCV000039255] |
Chr10:71798371 [GRCh38] Chr10:73558128 [GRCh37] Chr10:10q22.1 |
benign|likely benign|not provided |
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107988]|Usher syndrome type 1 [RCV001831671]|Usher syndrome type 1D [RCV001107987]|not provided [RCV000968472]|not specified [RCV000039256] |
Chr10:71798376 [GRCh38] Chr10:73558133 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000353028]|Autosomal recessive nonsyndromic hearing loss 12 [RCV000764921]|CDH23-Related Disorders [RCV000305248]|Usher syndrome type 1 [RCV001275584]|Usher syndrome type 1D [RCV000260501]|not provided [RCV001244627]|not specified [RCV000039257] |
Chr10:71798435 [GRCh38] Chr10:73558192 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107989]|Usher syndrome type 1 [RCV001831672]|Usher syndrome type 1D [RCV001108605]|not provided [RCV000881386]|not specified [RCV000039258] |
Chr10:71798442 [GRCh38] Chr10:73558199 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.6968del (p.Pro2323fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003473283]|Rare genetic deafness [RCV000039259]|Usher syndrome type 1 [RCV001831673] |
Chr10:71798490 [GRCh38] Chr10:73558247 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001102754]|Usher syndrome type 1 [RCV001831674]|Usher syndrome type 1D [RCV001102755]|not provided [RCV000840098]|not specified [RCV000039260] |
Chr10:71798514 [GRCh38] Chr10:73558271 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.7055-16A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533711]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002483004]|Usher syndrome type 1D [RCV001533710]|not provided [RCV001519500]|not specified [RCV000039261] |
Chr10:71799095 [GRCh38] Chr10:73558852 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000299226]|Usher syndrome type 1 [RCV001274908]|Usher syndrome type 1D [RCV000356417]|not provided [RCV001510615]|not specified [RCV000039262] |
Chr10:71799129 [GRCh38] Chr10:73558886 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.7132G>A (p.Gly2378Arg) |
single nucleotide variant |
Usher syndrome type 1 [RCV001274909]|not provided [RCV001240199]|not specified [RCV000039263] |
Chr10:71799188 [GRCh38] Chr10:73558945 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000269822]|Retinitis pigmentosa-deafness syndrome [RCV000326928]|Usher syndrome type 1 [RCV001274910]|Usher syndrome type 1D [RCV001093972]|not provided [RCV001510616]|not specified [RCV000039264] |
Chr10:71799195 [GRCh38] Chr10:73558952 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473284]|Rare genetic deafness [RCV000039265]|Usher syndrome [RCV003330411]|Usher syndrome type 1 [RCV001274911]|Usher syndrome type 1D [RCV002250505]|not provided [RCV000483242] |
Chr10:71799629 [GRCh38] Chr10:73559386 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.7442C>G (p.Pro2481Arg) |
single nucleotide variant |
not specified [RCV000039266] |
Chr10:71800715 [GRCh38] Chr10:73560472 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000285813]|Usher syndrome type 1 [RCV001274912]|Usher syndrome type 1D [RCV000377904]|not provided [RCV001511045]|not specified [RCV000039267] |
Chr10:71800740 [GRCh38] Chr10:73560497 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000763667]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108080]|Usher syndrome type 1 [RCV001276040]|Usher syndrome type 1D [RCV001108081]|not provided [RCV000725960]|not specified [RCV000039268] |
Chr10:71800741 [GRCh38] Chr10:73560498 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.7501G>A (p.Asp2501Asn) |
single nucleotide variant |
not specified [RCV000039269] |
Chr10:71802916 [GRCh38] Chr10:73562673 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000362289]|Usher syndrome type 1 [RCV001276913]|Usher syndrome type 1D [RCV000269936]|not provided [RCV001510617]|not specified [RCV000039270] |
Chr10:71802987 [GRCh38] Chr10:73562744 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.7615G>C (p.Gly2539Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002513534]|Usher syndrome type 1 [RCV001826579]|not provided [RCV002513533]|not specified [RCV000039271] |
Chr10:71803030 [GRCh38] Chr10:73562787 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001102865]|Usher syndrome type 1 [RCV001831675]|Usher syndrome type 1D [RCV001102866]|not provided [RCV000515005]|not specified [RCV000039272] |
Chr10:71803045 [GRCh38] Chr10:73562802 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000286793]|Usher syndrome type 1 [RCV001831676]|Usher syndrome type 1D [RCV000378798]|not provided [RCV000879301]|not specified [RCV000039273] |
Chr10:71803270 [GRCh38] Chr10:73563027 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104790]|Usher syndrome type 1 [RCV001826580]|Usher syndrome type 1D [RCV001104789]|not provided [RCV001522497]|not specified [RCV000039274] |
Chr10:71803310 [GRCh38] Chr10:73563067 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.7776G>A (p.Trp2592Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000039275]|not provided [RCV001382458] |
Chr10:71803324 [GRCh38] Chr10:73563081 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559300]|Autosomal recessive nonsyndromic hearing loss 12 [RCV003483451]|CDH23-Related Disorders [RCV000778289]|Neurodevelopmental abnormality [RCV001264702]|Pituitary adenoma 5, multiple types [RCV003473285]|Retinitis pigmentosa-deafness syndrome [RCV000988383]|Usher syndrome type 1D [RCV001374881]|not provided [RCV000725220]|not specified [RCV000039276] |
Chr10:71803371 [GRCh38] Chr10:73563128 [GRCh37] Chr10:10q22.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_022124.6(CDH23):c.7921G>C (p.Asp2641His) |
single nucleotide variant |
Rare genetic deafness [RCV000039277] |
Chr10:71805854 [GRCh38] Chr10:73565611 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000331245]|Usher syndrome type 1 [RCV001276795]|Usher syndrome type 1D [RCV000273869]|not provided [RCV000086977]|not specified [RCV000039278] |
Chr10:71439838 [GRCh38] Chr10:73199595 [GRCh37] Chr10:10q22.1 |
benign|likely benign|not provided |
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105928]|Usher syndrome type 1 [RCV001276915]|Usher syndrome type 1D [RCV001105927]|not provided [RCV000488300]|not specified [RCV000039279] |
Chr10:71805955 [GRCh38] Chr10:73565712 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_022124.6(CDH23):c.8065-9C>T |
single nucleotide variant |
not provided [RCV001492818]|not specified [RCV000039280] |
Chr10:71806159 [GRCh38] Chr10:73565916 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108162]|Usher syndrome type 1 [RCV001276044]|Usher syndrome type 1D [RCV001108161]|not provided [RCV000725935]|not specified [RCV000039281] |
Chr10:71806270 [GRCh38] Chr10:73566027 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.8257G>A (p.Ala2753Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276917]|not provided [RCV001852823]|not specified [RCV000039282] |
Chr10:71807355 [GRCh38] Chr10:73567112 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8283C>G (p.Asn2761Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831677]|not provided [RCV002513535]|not specified [RCV000039283] |
Chr10:71807381 [GRCh38] Chr10:73567138 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002513536]|Usher syndrome type 1 [RCV001276919]|not provided [RCV001243714]|not specified [RCV000039284] |
Chr10:71807614 [GRCh38] Chr10:73567371 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.8499C>T (p.Arg2833=) |
single nucleotide variant |
not provided [RCV001479232]|not specified [RCV000039285] |
Chr10:71807706 [GRCh38] Chr10:73567463 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8650_8667del (p.Ser2884_His2889del) |
deletion |
not specified [RCV000039286] |
Chr10:71807933..71807950 [GRCh38] Chr10:73567692..73567709 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8723-4G>A |
single nucleotide variant |
not provided [RCV002054749]|not specified [RCV000039287] |
Chr10:71809816 [GRCh38] Chr10:73569573 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8726G>A (p.Ser2909Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276058]|not provided [RCV001368613]|not specified [RCV000039288] |
Chr10:71809823 [GRCh38] Chr10:73569580 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8781C>A (p.Tyr2927Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000039289] |
Chr10:71809878 [GRCh38] Chr10:73569635 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8808C>T (p.Asp2936=) |
single nucleotide variant |
not provided [RCV000711153]|not specified [RCV000039290] |
Chr10:71809905 [GRCh38] Chr10:73569662 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.8829G>A (p.Thr2943=) |
single nucleotide variant |
not provided [RCV001433855]|not specified [RCV000039291] |
Chr10:71809926 [GRCh38] Chr10:73569683 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8856G>A (p.Arg2952=) |
single nucleotide variant |
not provided [RCV001491515]|not specified [RCV000039292] |
Chr10:71809953 [GRCh38] Chr10:73569710 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106039]|Usher syndrome type 1 [RCV001831678]|Usher syndrome type 1D [RCV001106040]|not provided [RCV000899993]|not specified [RCV000039293] |
Chr10:71809956 [GRCh38] Chr10:73569713 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000348155]|Usher syndrome type 1 [RCV001276922]|Usher syndrome type 1D [RCV000290902]|not provided [RCV001519142]|not specified [RCV000039294] |
Chr10:71809992 [GRCh38] Chr10:73569749 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103060]|Usher syndrome type 1 [RCV001276923]|Usher syndrome type 1D [RCV001103061]|not provided [RCV001512414]|not specified [RCV000039295] |
Chr10:71810004 [GRCh38] Chr10:73569761 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.894G>A (p.Leu298=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831679]|not provided [RCV000962018]|not specified [RCV000039296] |
Chr10:71615565 [GRCh38] Chr10:73375322 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.8980-12C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000319834]|Usher syndrome type 1D [RCV000367576]|not provided [RCV000839180]|not specified [RCV000039297] |
Chr10:71810460 [GRCh38] Chr10:73570217 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.8980-14C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104975]|Usher syndrome type 1D [RCV001104974]|not provided [RCV001513504]|not specified [RCV000039298] |
Chr10:71810458 [GRCh38] Chr10:73570215 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.8G>A (p.Arg3His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831680]|not provided [RCV001248760]|not specified [RCV000039299] |
Chr10:71439839 [GRCh38] Chr10:73199596 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002490537]|Usher syndrome type 1 [RCV001831681]|not provided [RCV002513537]|not specified [RCV000039300] |
Chr10:71810494 [GRCh38] Chr10:73570251 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000380915]|Usher syndrome type 1 [RCV001276924]|Usher syndrome type 1D [RCV000288750]|not provided [RCV000879426]|not specified [RCV000039301] |
Chr10:71810507 [GRCh38] Chr10:73570264 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275418]|Usher syndrome type 1D [RCV001374887]|not provided [RCV000727113]|not specified [RCV000039302] |
Chr10:71615572 [GRCh38] Chr10:73375329 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9077+7C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106135]|Usher syndrome type 1D [RCV001106136]|not provided [RCV000839177]|not specified [RCV000039303] |
Chr10:71810576 [GRCh38] Chr10:73570333 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9077+8G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000327443]|Usher syndrome type 1 [RCV001276925]|Usher syndrome type 1D [RCV000384229]|not provided [RCV001517939]|not specified [RCV000039304] |
Chr10:71810577 [GRCh38] Chr10:73570334 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.9086A>C (p.Gln3029Pro) |
single nucleotide variant |
not specified [RCV000039305] |
Chr10:71811323 [GRCh38] Chr10:73571080 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9177G>A (p.Pro3059=) |
single nucleotide variant |
not provided [RCV001046961]|not specified [RCV000039306] |
Chr10:71811414 [GRCh38] Chr10:73571171 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9319+11G>A |
single nucleotide variant |
Atypical Gaucher Disease [RCV000301429]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105082]|Combined PSAP deficiency [RCV000265040]|Galactosylceramide beta-galactosidase deficiency [RCV000359537]|Metachromatic leukodystrophy [RCV000305041]|Nonsyndromic Hearing Loss, Recessive [RCV000405954]|Retinitis pigmentosa-deafness syndrome [RCV000312528]|Usher syndrome type 1D [RCV001105081]|not provided [RCV001523600]|not specified [RCV000039307] |
Chr10:71811764 [GRCh38] Chr10:73571521 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000389375]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105085]|Combined PSAP deficiency [RCV000261040]|Galactosylceramide beta-galactosidase deficiency [RCV000316294]|Metachromatic leukodystrophy [RCV000356182]|Nonsyndromic Hearing Loss, Recessive [RCV000271717]|Retinitis pigmentosa-deafness syndrome [RCV000363966]|Usher syndrome type 1 [RCV001276927]|Usher syndrome type 1D [RCV001105086]|not provided [RCV000086979]|not specified [RCV000039308] |
Chr10:71812008 [GRCh38] Chr10:73571765 [GRCh37] Chr10:10q22.1 |
benign|likely benign|not provided |
NM_022124.6(CDH23):c.9438G>A (p.Ala3146=) |
single nucleotide variant |
not provided [RCV000913824]|not specified [RCV000039309] |
Chr10:71812537 [GRCh38] Chr10:73572294 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000331531]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106213]|Combined PSAP deficiency [RCV000386012]|Galactosylceramide beta-galactosidase deficiency [RCV000291787]|Metachromatic leukodystrophy [RCV000276340]|Usher syndrome type 1 [RCV001276928]|Usher syndrome type 1D [RCV001106214]|not provided [RCV000888298]|not specified [RCV000039310] |
Chr10:71812600 [GRCh38] Chr10:73572357 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9511-12C>T |
single nucleotide variant |
not provided [RCV002054750]|not specified [RCV000039311] |
Chr10:71812756 [GRCh38] Chr10:73572513 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000763669]|CDH23-Related Disorders [RCV000779032]|Hearing impairment [RCV001375340]|Pituitary adenoma 5, multiple types [RCV003473286]|Usher syndrome [RCV001261015]|not provided [RCV000766715]|not specified [RCV000039313] |
Chr10:71812826 [GRCh38] Chr10:73572583 [GRCh37] Chr10:10q22.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003473287]|Rare genetic deafness [RCV000039314]|Usher syndrome type 1 [RCV001831682]|not provided [RCV001009201] |
Chr10:71812883..71812886 [GRCh38] Chr10:73572640..73572643 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000286542]|CDH23-Related Disorders [RCV000377385]|Usher syndrome type 1 [RCV001272665]|Usher syndrome type 1D [RCV000341398]|not provided [RCV000725356]|not specified [RCV000039315] |
Chr10:71813280 [GRCh38] Chr10:73573037 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000270308]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001103259]|Combined PSAP deficiency [RCV000285800]|Galactosylceramide beta-galactosidase deficiency [RCV000325564]|Metachromatic leukodystrophy [RCV000380222]|Usher syndrome type 1 [RCV001276934]|Usher syndrome type 1D [RCV001103260]|not provided [RCV000889474]|not specified [RCV000039316] |
Chr10:71814971 [GRCh38] Chr10:73574728 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000394283]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105179]|Combined PSAP deficiency [RCV000309875]|Galactosylceramide beta-galactosidase deficiency [RCV000368018]|Metachromatic leukodystrophy [RCV000311112]|Nonsyndromic Hearing Loss, Recessive [RCV000355079]|Retinitis pigmentosa-deafness syndrome [RCV000300347]|Usher syndrome type 1 [RCV001271954]|Usher syndrome type 1D [RCV001105178]|not provided [RCV001510618]|not specified [RCV000039317] |
Chr10:71815086 [GRCh38] Chr10:73574843 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000358601]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106300]|Combined PSAP deficiency [RCV000267313]|Galactosylceramide beta-galactosidase deficiency [RCV000362216]|Metachromatic leukodystrophy [RCV000324862]|Usher syndrome type 1 [RCV001271956]|Usher syndrome type 1D [RCV001106299]|not provided [RCV000886795]|not specified [RCV000039318] |
Chr10:71815116 [GRCh38] Chr10:73574873 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000317831]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108523]|Combined PSAP deficiency [RCV000388265]|Galactosylceramide beta-galactosidase deficiency [RCV000296257]|Metachromatic leukodystrophy [RCV000348937]|Usher syndrome type 1 [RCV001271957]|Usher syndrome type 1D [RCV001108524]|not provided [RCV000965145]|not specified [RCV000039319] |
Chr10:71815191 [GRCh38] Chr10:73574948 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000381475]|Usher syndrome type 1 [RCV001831652]|Usher syndrome type 1D [RCV000329264]|not provided [RCV000881810]|not specified [RCV000037086] |
Chr10:71706913 [GRCh38] Chr10:73466670 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000289189]|Usher syndrome type 1 [RCV001271856]|Usher syndrome type 1D [RCV000341868]|not provided [RCV001521165]|not specified [RCV000037087] |
Chr10:71706952 [GRCh38] Chr10:73466709 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103161]|Usher syndrome type 1 [RCV001276802]|Usher syndrome type 1D [RCV001103160]|not provided [RCV001522180]|not specified [RCV000037088] |
Chr10:71617297 [GRCh38] Chr10:73377054 [GRCh37] Chr10:73047060 [NCBI36] Chr10:10q22.1 |
benign|not provided |
NM_022124.6(CDH23):c.1053C>T (p.Ser351=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000350805]|Usher syndrome type 1 [RCV001276803]|Usher syndrome type 1D [RCV000394181]|not provided [RCV000711151]|not specified [RCV000037089] |
Chr10:71617312 [GRCh38] Chr10:73377069 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105080]|Nonsyndromic genetic hearing loss [RCV001544539]|Usher syndrome type 1 [RCV001826559]|Usher syndrome type 1D [RCV001105079]|not provided [RCV000513678]|not specified [RCV000037090] |
Chr10:71617355 [GRCh38] Chr10:73377112 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1134+13A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000308114]|Usher syndrome type 1D [RCV000362757]|not provided [RCV000991771]|not specified [RCV000037091] |
Chr10:71617406 [GRCh38] Chr10:73377163 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.1134+22C>T |
single nucleotide variant |
not specified [RCV000037092] |
Chr10:71617415 [GRCh38] Chr10:73377172 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.1449+74G>T |
single nucleotide variant |
not provided [RCV001588856]|not specified [RCV000039813] |
Chr10:71646691 [GRCh38] Chr10:73406448 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 |
copy number loss |
See cases [RCV000052530] |
Chr10:62229688..74468143 [GRCh38] Chr10:63989447..76227901 [GRCh37] Chr10:63659453..75897907 [NCBI36] Chr10:10q21.2-22.2 |
pathogenic |
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 |
copy number loss |
See cases [RCV000052511] |
Chr10:58436466..74415216 [GRCh38] Chr10:60196226..76174974 [GRCh37] Chr10:59866232..75844980 [NCBI36] Chr10:10q21.1-22.2 |
pathogenic |
NM_022124.6(CDH23):c.423C>T (p.Ile141=) |
single nucleotide variant |
Malignant melanoma [RCV000069023] |
Chr10:71511206 [GRCh38] Chr10:73270963 [GRCh37] Chr10:72940969 [NCBI36] Chr10:10q22.1 |
likely benign|not provided |
NM_022124.6(CDH23):c.2283C>T (p.Ile761=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280209]|not provided [RCV002054919] |
Chr10:71694253 [GRCh38] Chr10:73454010 [GRCh37] Chr10:73124016 [NCBI36] Chr10:10q22.1 |
likely benign|uncertain significance|not provided |
NM_022124.5(CDH23):c.753+1965G>A |
single nucleotide variant |
Lung cancer [RCV000109328] |
Chr10:71572883 [GRCh38] Chr10:73332640 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.5(CDH23):c.3431-116G>A |
single nucleotide variant |
Lung cancer [RCV000109329] |
Chr10:71725256 [GRCh38] Chr10:73485013 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8411A>G (p.Lys2804Arg) |
single nucleotide variant |
not provided [RCV000086978] |
Chr10:71807618 [GRCh38] Chr10:73567375 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance|not provided |
NM_022124.6(CDH23):c.1981G>A (p.Val661Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002483149]|Inborn genetic diseases [RCV002514440]|Usher syndrome type 1 [RCV001831883]|not provided [RCV000082084] |
Chr10:71682567 [GRCh38] Chr10:73442324 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2394C>T (p.Thr798=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275941]|not provided [RCV000082085] |
Chr10:71695522 [GRCh38] Chr10:73455279 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000764922]|Usher syndrome type 1 [RCV001831884]|not provided [RCV000082088] |
Chr10:71798573 [GRCh38] Chr10:73558330 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3929C>A (p.Ala1310Asp) |
single nucleotide variant |
Usher syndrome type 1D [RCV000119815] |
Chr10:71732200 [GRCh38] Chr10:73491957 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4104+4A>T |
single nucleotide variant |
Usher syndrome type 1D [RCV000119816] |
Chr10:71732379 [GRCh38] Chr10:73492136 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9510+19_9510+25del |
deletion |
Atypical Gaucher Disease [RCV000396275]|Combined PSAP deficiency [RCV000337881]|Galactosylceramide beta-galactosidase deficiency [RCV000402429]|Metachromatic leukodystrophy [RCV000301614]|Usher syndrome type 1 [RCV001276931]|Usher syndrome type 1D [RCV000119817]|not provided [RCV001523525]|not specified [RCV000604131] |
Chr10:71812625..71812631 [GRCh38] Chr10:73572382..73572388 [GRCh37] Chr10:10q22.1 |
benign|uncertain significance |
NM_022124.6(CDH23):c.2060-19C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533704]|Usher syndrome type 1D [RCV001533703]|not provided [RCV001513060]|not specified [RCV000124188] |
Chr10:71690449 [GRCh38] Chr10:73450206 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4207-18T>C |
single nucleotide variant |
not provided [RCV001519569]|not specified [RCV000124193] |
Chr10:71734638 [GRCh38] Chr10:73494395 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4359+11G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105744]|Usher syndrome type 1D [RCV001106860]|not provided [RCV001509643]|not specified [RCV000154440] |
Chr10:71738658 [GRCh38] Chr10:73498415 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4846-19G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002483242]|not provided [RCV001513576]|not specified [RCV000124198] |
Chr10:71777661 [GRCh38] Chr10:73537418 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.9058_9060del (p.Arg3020del) |
deletion |
not provided [RCV000171457] |
Chr10:71810549..71810551 [GRCh38] Chr10:73570306..73570308 [GRCh37] Chr10:10q22.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1338G>A (p.Val446=) |
single nucleotide variant |
not provided [RCV001412316] |
Chr10:71646506 [GRCh38] Chr10:73406263 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3717G>A (p.Gly1239=) |
single nucleotide variant |
not provided [RCV001412312] |
Chr10:71731988 [GRCh38] Chr10:73491745 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.146-2A>G |
single nucleotide variant |
not provided [RCV000178332] |
Chr10:71510080 [GRCh38] Chr10:73269837 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.5149T>C (p.Cys1717Arg) |
single nucleotide variant |
Hearing loss, autosomal recessive [RCV001291213] |
Chr10:71778270 [GRCh38] Chr10:73538027 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del) |
microsatellite |
Hearing loss, autosomal recessive [RCV001291221]|Pituitary adenoma 5, multiple types [RCV003473848]|Usher syndrome type 1 [RCV001836256]|not provided [RCV001378790] |
Chr10:71805920..71805922 [GRCh38] Chr10:73565677..73565679 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.1290+41G>T |
single nucleotide variant |
not provided [RCV001565215] |
Chr10:71646021 [GRCh38] Chr10:73405778 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3580-14C>T |
single nucleotide variant |
not provided [RCV001349390] |
Chr10:71730455 [GRCh38] Chr10:73490212 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9381-186G>C |
single nucleotide variant |
Deafness, autosomal recessive 12 [RCV001333130] |
Chr10:71812294 [GRCh38] Chr10:73572051 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000515701]|Pituitary adenoma 5, multiple types [RCV003476212] |
Chr10:71778268 [GRCh38] Chr10:73538025 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1934A>G (p.Asp645Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000515704] |
Chr10:71682520 [GRCh38] Chr10:73442277 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000396155]|Usher syndrome type 1 [RCV001271846]|Usher syndrome type 1D [RCV000291141]|not provided [RCV000724233]|not specified [RCV000220758] |
Chr10:71677536 [GRCh38] Chr10:73437293 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 |
copy number gain |
See cases [RCV000134848] |
Chr10:42685306..73715908 [GRCh38] Chr10:43180754..75475666 [GRCh37] Chr10:42500760..75145672 [NCBI36] Chr10:10q11.21-22.2 |
pathogenic |
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 |
copy number gain |
See cases [RCV000135438] |
Chr10:67196567..79422057 [GRCh38] Chr10:68956325..81181813 [GRCh37] Chr10:68626331..80851819 [NCBI36] Chr10:10q21.3-22.3 |
pathogenic |
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 |
copy number loss |
See cases [RCV000136658] |
Chr10:63402579..75296099 [GRCh38] Chr10:65162339..77055857 [GRCh37] Chr10:64832345..76725863 [NCBI36] Chr10:10q21.3-22.2 |
pathogenic|likely benign |
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 |
copy number gain |
See cases [RCV000138007] |
Chr10:50729367..87147204 [GRCh38] Chr10:52489127..88906961 [GRCh37] Chr10:52159133..88896941 [NCBI36] Chr10:10q11.23-23.2 |
pathogenic |
NM_022124.6(CDH23):c.1803C>G (p.Val601=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000344596]|CDH23-Related Disorders [RCV000289744]|Usher syndrome type 1 [RCV001275931]|Usher syndrome type 1D [RCV000406438]|not provided [RCV000724492]|not specified [RCV000216164] |
Chr10:71679437 [GRCh38] Chr10:73439194 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000276507]|CDH23-Related Disorders [RCV000297753]|Inborn genetic diseases [RCV002517685]|Usher syndrome type 1 [RCV001275933]|Usher syndrome type 1D [RCV000371125]|not provided [RCV000724533]|not specified [RCV000175362] |
Chr10:71682549 [GRCh38] Chr10:73442306 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002492744]|Usher syndrome type 1 [RCV001826885]|Usher syndrome type 1D [RCV001376241]|not provided [RCV000175363]|not specified [RCV002265660] |
Chr10:71682505 [GRCh38] Chr10:73442262 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh38/hg38 10q22.1(chr10:71169571-71556196)x1 |
copy number loss |
See cases [RCV000142740] |
Chr10:71169571..71556196 [GRCh38] Chr10:72929328..73315953 [GRCh37] Chr10:72599334..72985959 [NCBI36] Chr10:10q22.1 |
uncertain significance |
GRCh38/hg38 10q22.1(chr10:71211967-71614160)x1 |
copy number loss |
See cases [RCV000143420] |
Chr10:71211967..71614160 [GRCh38] Chr10:72971724..73373917 [GRCh37] Chr10:72641730..73043923 [NCBI36] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4694A>C (p.Tyr1565Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831969]|not provided [RCV001225697]|not specified [RCV000155857] |
Chr10:71741770 [GRCh38] Chr10:73501527 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.137C>A (p.Thr46Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275409]|not provided [RCV002516137]|not specified [RCV000155867] |
Chr10:71446387 [GRCh38] Chr10:73206144 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1089C>T (p.Val363=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105077]|Usher syndrome type 1D [RCV001105078]|not provided [RCV000920382]|not specified [RCV000155894] |
Chr10:71617348 [GRCh38] Chr10:73377105 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.2104C>T (p.Arg702Trp) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275934]|not provided [RCV001731486]|not specified [RCV000155952] |
Chr10:71690512 [GRCh38] Chr10:73450269 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6718G>A (p.Val2240Ile) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275581]|not specified [RCV000155970] |
Chr10:71797109 [GRCh38] Chr10:73556866 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.856C>T (p.Leu286=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108339]|Usher syndrome type 1D [RCV001108338]|not provided [RCV000913374]|not specified [RCV000150271] |
Chr10:71615527 [GRCh38] Chr10:73375284 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.945+1G>T |
single nucleotide variant |
Rare genetic deafness [RCV000150272] |
Chr10:71615617 [GRCh38] Chr10:73375374 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108431]|Usher syndrome type 1 [RCV001271844]|Usher syndrome type 1D [RCV001108432]|not provided [RCV001850038]|not specified [RCV000150276] |
Chr10:71646531 [GRCh38] Chr10:73406288 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1449+148_1449+149del |
deletion |
not specified [RCV000150277] |
Chr10:71646764..71646765 [GRCh38] Chr10:73406521..73406522 [GRCh37] Chr10:10q22.1 |
not provided |
NM_022124.6(CDH23):c.1542CAT[1] (p.Ile515del) |
microsatellite |
not provided [RCV002514888]|not specified [RCV000150278] |
Chr10:71677482..71677484 [GRCh38] Chr10:73437239..73437241 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2059+6G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103351]|Usher syndrome type 1 [RCV001826803]|Usher syndrome type 1D [RCV001103350]|not provided [RCV002514889]|not specified [RCV000150280] |
Chr10:71687725 [GRCh38] Chr10:73447482 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000312924]|Usher syndrome type 1 [RCV001280204]|Usher syndrome type 1D [RCV000367471]|not provided [RCV001417999]|not specified [RCV000150281] |
Chr10:71690520 [GRCh38] Chr10:73450277 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000764912]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105264]|Usher syndrome type 1 [RCV001275937]|Usher syndrome type 1D [RCV001105265]|not provided [RCV000657974]|not specified [RCV000150283] |
Chr10:71694206 [GRCh38] Chr10:73453963 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2289+6T>G |
single nucleotide variant |
not specified [RCV000150284] |
Chr10:71694265 [GRCh38] Chr10:73454022 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3106+4C>T |
single nucleotide variant |
Usher syndrome type 1 [RCV001831933]|not specified [RCV000150286] |
Chr10:71707053 [GRCh38] Chr10:73466810 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3503G>A (p.Arg1168Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826804]|not provided [RCV001222929]|not specified [RCV000150290] |
Chr10:71725444 [GRCh38] Chr10:73485201 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.-1C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000365856]|Usher syndrome type 1 [RCV001276794]|Usher syndrome type 1D [RCV000309111]|not provided [RCV000991774]|not specified [RCV000150267] |
Chr10:71439831 [GRCh38] Chr10:73199588 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.325G>A (p.Asp109Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831932]|not provided [RCV000755907]|not specified [RCV000150269] |
Chr10:71510990 [GRCh38] Chr10:73270747 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu) |
single nucleotide variant |
Retinal dystrophy [RCV001075173]|Usher syndrome type 1 [RCV001835686]|not provided [RCV001046427]|not specified [RCV000150288] |
Chr10:71712674 [GRCh38] Chr10:73472431 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.6091G>A (p.Ala2031Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003278670]|Usher syndrome type 1 [RCV001274899]|not provided [RCV001850039]|not specified [RCV000150306] |
Chr10:71791173 [GRCh38] Chr10:73550930 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3326C>T (p.Ala1109Val) |
single nucleotide variant |
not specified [RCV000155989] |
Chr10:71712770 [GRCh38] Chr10:73472527 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.996G>A (p.Thr332=) |
single nucleotide variant |
not provided [RCV000728521]|not specified [RCV000156002] |
Chr10:71617255 [GRCh38] Chr10:73377012 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9078G>C (p.Arg3026=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831972]|not provided [RCV002516144]|not specified [RCV000156017] |
Chr10:71811315 [GRCh38] Chr10:73571072 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826844]|not provided [RCV000725853]|not specified [RCV000156024] |
Chr10:71741780 [GRCh38] Chr10:73501537 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9278+15C>T |
single nucleotide variant |
not specified [RCV000156053] |
Chr10:71811605 [GRCh38] Chr10:73571362 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7979_7986del (p.Asp2660fs) |
deletion |
Rare genetic deafness [RCV000156071] |
Chr10:71805911..71805918 [GRCh38] Chr10:73565668..73565675 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4104+22G>T |
single nucleotide variant |
not specified [RCV000150292] |
Chr10:71732397 [GRCh38] Chr10:73492154 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4488+7C>T |
single nucleotide variant |
not provided [RCV000732201]|not specified [RCV000150294] |
Chr10:71739779 [GRCh38] Chr10:73499536 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4664G>A (p.Arg1555His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831935]|not provided [RCV001239186]|not specified [RCV000150295] |
Chr10:71741740 [GRCh38] Chr10:73501497 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5022C>T (p.Ile1674=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107632]|Usher syndrome type 1D [RCV001107631]|not provided [RCV000916891]|not specified [RCV000150296] |
Chr10:71777856 [GRCh38] Chr10:73537613 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5038G>A (p.Val1680Ile) |
single nucleotide variant |
not provided [RCV001059410]|not specified [RCV000150297] |
Chr10:71777872 [GRCh38] Chr10:73537629 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.5168G>A (p.Arg1723His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831936]|not provided [RCV001248348]|not specified [RCV000150298] |
Chr10:71778289 [GRCh38] Chr10:73538046 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6713-8G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000303590]|CDH23-Related Disorders [RCV000405191]|Usher syndrome type 1 [RCV001274905]|Usher syndrome type 1D [RCV000347943]|not provided [RCV000910899]|not specified [RCV000150310] |
Chr10:71797096 [GRCh38] Chr10:73556853 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.6713G>C (p.Gly2238Ala) |
single nucleotide variant |
not specified [RCV000150311] |
Chr10:71797104 [GRCh38] Chr10:73556861 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6846C>T (p.Asn2282=) |
single nucleotide variant |
not provided [RCV001437367]|not specified [RCV000150312] |
Chr10:71798370 [GRCh38] Chr10:73558127 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6949G>T (p.Ala2317Ser) |
single nucleotide variant |
not specified [RCV000150313] |
Chr10:71798473 [GRCh38] Chr10:73558230 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.5(CDH23):c.7362+5G>A |
single nucleotide variant |
Usher syndrome, type 1D [RCV000150316] |
Chr10:71799634 [GRCh38] Chr10:73559391 [GRCh37] |
pathogenic |
NM_022124.6(CDH23):c.7517G>A (p.Arg2506Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000477763]|Usher syndrome type 1 [RCV001276041]|not provided [RCV002516021]|not specified [RCV000150318] |
Chr10:71802932 [GRCh38] Chr10:73562689 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7660+13C>T |
single nucleotide variant |
not provided [RCV002055959]|not specified [RCV000150320] |
Chr10:71803088 [GRCh38] Chr10:73562845 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.7873-2A>T |
single nucleotide variant |
Rare genetic deafness [RCV000150322] |
Chr10:71805804 [GRCh38] Chr10:73565561 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108166]|Inborn genetic diseases [RCV002514890]|Usher syndrome [RCV003389457]|Usher syndrome type 1D [RCV001108165]|not provided [RCV000928676]|not specified [RCV000150324] |
Chr10:71807388 [GRCh38] Chr10:73567145 [GRCh37] Chr10:10q22.1 |
likely pathogenic|likely benign|uncertain significance |
NM_022124.6(CDH23):c.8792A>C (p.Asp2931Ala) |
single nucleotide variant |
not specified [RCV000150325] |
Chr10:71809889 [GRCh38] Chr10:73569646 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8823C>T (p.Asn2941=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106038]|Usher syndrome type 1D [RCV001106037]|not provided [RCV000900337]|not specified [RCV000150326] |
Chr10:71809920 [GRCh38] Chr10:73569677 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272661]|not provided [RCV000727021]|not specified [RCV000150327] |
Chr10:71809983 [GRCh38] Chr10:73569740 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9204G>A (p.Ala3068=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835687]|not provided [RCV000883898]|not specified [RCV000150328] |
Chr10:71811516 [GRCh38] Chr10:73571273 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.9278+2dup |
duplication |
not specified [RCV000150329] |
Chr10:71811591..71811592 [GRCh38] Chr10:73571348..73571349 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474802]|Usher syndrome [RCV000787977]|Usher syndrome type 1 [RCV001826806]|not provided [RCV001064686]|not specified [RCV000150330] |
Chr10:71812823 [GRCh38] Chr10:73572580 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9617G>A (p.Arg3206His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826807]|not provided [RCV001067382]|not specified [RCV000150331] |
Chr10:71812874 [GRCh38] Chr10:73572631 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000315265]|Usher syndrome type 1 [RCV001273546]|Usher syndrome type 1D [RCV000367580]|not provided [RCV000918209]|not specified [RCV000156134] |
Chr10:71740922 [GRCh38] Chr10:73500679 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.5(CDH23):c.(?_3716)_(4146_?)del |
deletion |
Rare genetic deafness [RCV000156137] |
Chr10:71731987..71734281 [GRCh38] Chr10:73491744..73494038 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275568]|not provided [RCV000724950]|not specified [RCV000156141] |
Chr10:71791180 [GRCh38] Chr10:73550937 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.8534G>A (p.Arg2845His) |
single nucleotide variant |
Hearing impairment [RCV001375072]|Usher syndrome type 1 [RCV001276057]|not provided [RCV002516153]|not specified [RCV000156174] |
Chr10:71807741 [GRCh38] Chr10:73567498 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6559G>A (p.Ala2187Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826847]|not provided [RCV002515011]|not specified [RCV000156184] |
Chr10:71793487 [GRCh38] Chr10:73553244 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6367G>A (p.Gly2123Arg) |
single nucleotide variant |
Usher syndrome type 1 [RCV001274902]|not provided [RCV001303575]|not specified [RCV000156273] |
Chr10:71793295 [GRCh38] Chr10:73553052 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6264C>A (p.Val2088=) |
single nucleotide variant |
not provided [RCV001397687]|not specified [RCV000156277] |
Chr10:71793192 [GRCh38] Chr10:73552949 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1660G>A (p.Val554Ile) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826850]|not specified [RCV000156295] |
Chr10:71677601 [GRCh38] Chr10:73437358 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1543A>G (p.Ile515Val) |
single nucleotide variant |
not provided [RCV000991773]|not specified [RCV000156299] |
Chr10:71677484 [GRCh38] Chr10:73437241 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.7161T>C (p.Pro2387=) |
single nucleotide variant |
not provided [RCV002056127]|not specified [RCV000156407] |
Chr10:71799217 [GRCh38] Chr10:73558974 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5712+9T>C |
single nucleotide variant |
not specified [RCV000156415] |
Chr10:71785109 [GRCh38] Chr10:73544866 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6050-10C>T |
single nucleotide variant |
not provided [RCV000727876]|not specified [RCV000156417] |
Chr10:71791122 [GRCh38] Chr10:73550879 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1745G>A (p.Arg582Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835695]|not provided [RCV002514968]|not specified [RCV000154333] |
Chr10:71677686 [GRCh38] Chr10:73437443 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2316= (p.Asn772=) |
single nucleotide variant |
not specified [RCV000154334] |
Chr10:71695444 [GRCh38] Chr10:73455201 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2388= (p.Asp796=) |
single nucleotide variant |
not specified [RCV000154335] |
Chr10:71695516 [GRCh38] Chr10:73455273 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4051= (p.Asn1351=) |
single nucleotide variant |
not specified [RCV000154336] |
Chr10:71732322 [GRCh38] Chr10:73492079 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4723= (p.Ala1575=) |
single nucleotide variant |
not specified [RCV000154337] |
Chr10:71741799 [GRCh38] Chr10:73501556 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.429+13= |
single nucleotide variant |
not specified [RCV000154338] |
Chr10:71511225 [GRCh38] Chr10:73270982 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001102962]|Hearing impairment [RCV001375066]|Usher syndrome type 1 [RCV001276918]|Usher syndrome type 1D [RCV001102961]|not provided [RCV001053772]|not specified [RCV000154384] |
Chr10:71807518 [GRCh38] Chr10:73567275 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.5674G>A (p.Ala1892Thr) |
single nucleotide variant |
not specified [RCV000156483] |
Chr10:71785062 [GRCh38] Chr10:73544819 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2500C>T (p.Arg834Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826853]|not provided [RCV001342653]|not specified [RCV000156496] |
Chr10:71702124 [GRCh38] Chr10:73461881 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4512C>G (p.Thr1504=) |
single nucleotide variant |
not provided [RCV000906912]|not specified [RCV000156512] |
Chr10:71740845 [GRCh38] Chr10:73500602 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4276G>A (p.Val1426Ile) |
single nucleotide variant |
not specified [RCV000156546] |
Chr10:71738564 [GRCh38] Chr10:73498321 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9024A>G (p.Glu3008=) |
single nucleotide variant |
not provided [RCV002053885]|not specified [RCV000156634] |
Chr10:71810516 [GRCh38] Chr10:73570273 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3028C>A (p.Arg1010Ser) |
single nucleotide variant |
not specified [RCV000156654] |
Chr10:71706971 [GRCh38] Chr10:73466728 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5924-6G>T |
single nucleotide variant |
not provided [RCV002053888]|not specified [RCV000156680] |
Chr10:71790282 [GRCh38] Chr10:73550039 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7651C>G (p.Pro2551Ala) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831978]|not provided [RCV001753549]|not specified [RCV000156725] |
Chr10:71803066 [GRCh38] Chr10:73562823 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000394912]|CDH23-Related Disorders [RCV000302373]|Usher syndrome type 1 [RCV001276056]|Usher syndrome type 1D [RCV000365153]|not provided [RCV000757071]|not specified [RCV000156776] |
Chr10:71807740 [GRCh38] Chr10:73567497 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.429+9C>A |
single nucleotide variant |
not specified [RCV000156796] |
Chr10:71511221 [GRCh38] Chr10:73270978 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.366= (p.Val122=) |
single nucleotide variant |
not specified [RCV000150270] |
Chr10:71511149 [GRCh38] Chr10:73270906 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275925]|not provided [RCV000731528]|not specified [RCV000150275] |
Chr10:71646469 [GRCh38] Chr10:73406226 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2171G>A (p.Arg724His) |
single nucleotide variant |
not provided [RCV000977887]|not specified [RCV000150282] |
Chr10:71690579 [GRCh38] Chr10:73450336 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2954-14G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000330526]|CDH23-Related Disorders [RCV000290528]|Usher syndrome type 1D [RCV000387240]|not provided [RCV001520333]|not specified [RCV000150285] |
Chr10:71706883 [GRCh38] Chr10:73466640 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.3220+15C>T |
single nucleotide variant |
not provided [RCV001520586]|not specified [RCV000150287] |
Chr10:71709226 [GRCh38] Chr10:73468983 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3869C>T (p.Pro1290Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831934]|not provided [RCV001045654]|not specified [RCV000150291] |
Chr10:71732140 [GRCh38] Chr10:73491897 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6637G>A (p.Gly2213Ser) |
single nucleotide variant |
not provided [RCV002516020]|not specified [RCV000150308] |
Chr10:71793565 [GRCh38] Chr10:73553322 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6655G>A (p.Asp2219Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826805]|not specified [RCV000150309] |
Chr10:71793583 [GRCh38] Chr10:73553340 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7176C>T (p.Ile2392=) |
single nucleotide variant |
not provided [RCV001394687]|not specified [RCV000150315] |
Chr10:71799232 [GRCh38] Chr10:73558989 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7463G>A (p.Arg2488His) |
single nucleotide variant |
not provided [RCV000972817]|not specified [RCV000150317] |
Chr10:71800736 [GRCh38] Chr10:73560493 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000275931]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002498689]|CDH23-Related Disorders [RCV000368231]|Hearing impairment [RCV001375197]|Usher syndrome type 1 [RCV001276912]|Usher syndrome type 1D [RCV000314616]|not provided [RCV000658566]|not specified [RCV000150319] |
Chr10:71802967 [GRCh38] Chr10:73562724 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.551G>A (p.Arg184His) |
single nucleotide variant |
not provided [RCV001240150]|not specified [RCV000155038] |
Chr10:71566863 [GRCh38] Chr10:73326620 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000356306]|Usher syndrome type 1 [RCV001831961]|Usher syndrome type 1D [RCV000263904]|not provided [RCV000935082]|not specified [RCV000155039] |
Chr10:71566886 [GRCh38] Chr10:73326643 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.825C>T (p.Ile275=) |
single nucleotide variant |
not provided [RCV000922650]|not specified [RCV000155040] |
Chr10:71577985 [GRCh38] Chr10:73337742 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.945+12G>A |
single nucleotide variant |
not provided [RCV001492336]|not specified [RCV000155041] |
Chr10:71615628 [GRCh38] Chr10:73375385 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1227G>A (p.Ala409=) |
single nucleotide variant |
not provided [RCV000896264]|not specified [RCV000155042] |
Chr10:71645917 [GRCh38] Chr10:73405674 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.1450-4G>A |
single nucleotide variant |
not provided [RCV000725855]|not specified [RCV000155043] |
Chr10:71675108 [GRCh38] Chr10:73434865 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3162C>G (p.Thr1054=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001271861]|not provided [RCV000911803]|not specified [RCV000155044] |
Chr10:71709153 [GRCh38] Chr10:73468910 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002484934]|Usher syndrome type 1 [RCV001831962]|not provided [RCV001060903]|not specified [RCV000155045] |
Chr10:71682453 [GRCh38] Chr10:73442210 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2341G>A (p.Ala781Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275940]|not provided [RCV001051031]|not specified [RCV000155046] |
Chr10:71695469 [GRCh38] Chr10:73455226 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3580-13C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000350161]|Usher syndrome type 1D [RCV000394453]|not provided [RCV001510244]|not specified [RCV000155047] |
Chr10:71730456 [GRCh38] Chr10:73490213 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106974]|Usher syndrome type 1 [RCV001826832]|Usher syndrome type 1D [RCV001106973]|not provided [RCV000896265]|not specified [RCV000155048] |
Chr10:71777709 [GRCh38] Chr10:73537466 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000279211]|CDH23-Related Disorders [RCV000406115]|Hearing loss, autosomal recessive [RCV001291212]|Usher syndrome type 1D [RCV000338894]|not provided [RCV000900747]|not specified [RCV000155049] |
Chr10:71777726 [GRCh38] Chr10:73537483 [GRCh37] Chr10:10q22.1 |
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.5067+15G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000386845]|Usher syndrome type 1D [RCV000292557]|not provided [RCV001519798]|not specified [RCV000155050] |
Chr10:71777916 [GRCh38] Chr10:73537673 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.5481G>T (p.Gly1827=) |
single nucleotide variant |
not provided [RCV001596979]|not specified [RCV000155051] |
Chr10:71784399 [GRCh38] Chr10:73544156 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.6809G>A (p.Arg2270His) |
single nucleotide variant |
not provided [RCV000882387]|not specified [RCV000155054] |
Chr10:71797200 [GRCh38] Chr10:73556957 [GRCh37] Chr10:10q22.1 |
benign|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.8286G>A (p.Ala2762=) |
single nucleotide variant |
not provided [RCV000939961]|not specified [RCV000155055] |
Chr10:71807384 [GRCh38] Chr10:73567141 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9087G>A (p.Gln3029=) |
single nucleotide variant |
not provided [RCV000942342]|not specified [RCV000155056] |
Chr10:71811324 [GRCh38] Chr10:73571081 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn) |
single nucleotide variant |
Retinal dystrophy [RCV001075188]|Usher syndrome type 1 [RCV001826833]|not provided [RCV001850121]|not specified [RCV000155057] |
Chr10:71811331 [GRCh38] Chr10:73571088 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000298108]|Combined PSAP deficiency [RCV000353393]|Galactosylceramide beta-galactosidase deficiency [RCV000313766]|Metachromatic leukodystrophy [RCV000277348]|Nonsyndromic Hearing Loss, Recessive [RCV000371681]|Retinitis pigmentosa-deafness syndrome [RCV000317072]|Usher syndrome type 1 [RCV001276933]|Usher syndrome type 1D [RCV001526764]|not provided [RCV001241617]|not specified [RCV000155059] |
Chr10:71812886 [GRCh38] Chr10:73572643 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.10018C>T (p.Leu3340Phe) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826834]|not provided [RCV001850122]|not specified [RCV000155060] |
Chr10:71815231 [GRCh38] Chr10:73574988 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000301703]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108528]|CDH23-Related Disorders [RCV000381558]|Combined PSAP deficiency [RCV000308301]|Galactosylceramide beta-galactosidase deficiency [RCV000395744]|Metachromatic leukodystrophy [RCV000360078]|Nonsyndromic Hearing Loss, Recessive [RCV000290748]|Retinitis pigmentosa-deafness syndrome [RCV000345678]|Usher syndrome type 1 [RCV001826835]|Usher syndrome type 1D [RCV001108527]|not provided [RCV000902585]|not specified [RCV000155061] |
Chr10:71815239 [GRCh38] Chr10:73574996 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2865C>T (p.Arg955=) |
single nucleotide variant |
not provided [RCV000965140]|not specified [RCV000155354] |
Chr10:71705042 [GRCh38] Chr10:73464799 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107422]|Usher syndrome type 1D [RCV001107423]|not provided [RCV000827161]|not specified [RCV000155355] |
Chr10:71734338 [GRCh38] Chr10:73494095 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp) |
single nucleotide variant |
Rare genetic deafness [RCV000155432]|not provided [RCV001723725] |
Chr10:71646537 [GRCh38] Chr10:73406294 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000764917]|Usher syndrome [RCV001171524]|Usher syndrome type 1 [RCV001831967]|not provided [RCV001239311]|not specified [RCV000155442] |
Chr10:71732271 [GRCh38] Chr10:73492028 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.793A>G (p.Lys265Glu) |
single nucleotide variant |
not specified [RCV000202788] |
Chr10:71577953 [GRCh38] Chr10:73337710 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.754-3dup |
duplication |
not specified [RCV000155614] |
Chr10:71577908..71577909 [GRCh38] Chr10:73337665..73337666 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9510+13C>T |
single nucleotide variant |
Atypical Gaucher Disease [RCV000380976]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106215]|Combined PSAP deficiency [RCV000346745]|Galactosylceramide beta-galactosidase deficiency [RCV000286477]|Metachromatic leukodystrophy [RCV000341426]|Usher syndrome type 1 [RCV001276930]|Usher syndrome type 1D [RCV001106216]|not provided [RCV001520244]|not specified [RCV000155615] |
Chr10:71812622 [GRCh38] Chr10:73572379 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.367G>A (p.Gly123Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108252]|Usher syndrome type 1 [RCV001831968]|Usher syndrome type 1D [RCV001108253]|not specified [RCV000155656] |
Chr10:71511150 [GRCh38] Chr10:73270907 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.10007C>T (p.Pro3336Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826840]|not provided [RCV001857533]|not specified [RCV000155682] |
Chr10:71815220 [GRCh38] Chr10:73574977 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9738+6C>T |
single nucleotide variant |
not provided [RCV001042502]|not specified [RCV000155727] |
Chr10:71813354 [GRCh38] Chr10:73573111 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108255]|Inborn genetic diseases [RCV002516118]|Usher syndrome type 1 [RCV001275412]|Usher syndrome type 1D [RCV001108254]|not provided [RCV000725256]|not specified [RCV000155037] |
Chr10:71511168 [GRCh38] Chr10:73270925 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5821-13C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000376677]|Usher syndrome type 1D [RCV000322073]|not provided [RCV001519574]|not specified [RCV000155052] |
Chr10:71788927 [GRCh38] Chr10:73548684 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.6050-15G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474812]|Retinal dystrophy [RCV001075025]|Usher syndrome type 1D [RCV001589015]|not provided [RCV001305819]|not specified [RCV000155053] |
Chr10:71791117 [GRCh38] Chr10:73550874 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000369593]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002484935]|CDH23-Related Disorders [RCV000306842]|Usher syndrome type 1 [RCV001276926]|Usher syndrome type 1D [RCV000277499]|not provided [RCV001245385]|not specified [RCV000155058] |
Chr10:71811961 [GRCh38] Chr10:73571718 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000778901]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002492595]|Pituitary adenoma 5, multiple types [RCV003474814]|Usher syndrome type 1 [RCV001835699]|Usher syndrome type 1D [RCV001106863]|not provided [RCV000766640]|not specified [RCV000156528] |
Chr10:71739689 [GRCh38] Chr10:73499446 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108677]|Usher syndrome type 1 [RCV001272549]|Usher syndrome type 1D [RCV001108676]|not provided [RCV000723810]|not specified [RCV000214285] |
Chr10:71705117 [GRCh38] Chr10:73464874 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000283445]|Autosomal recessive nonsyndromic hearing loss 12 [RCV000764913]|Inborn genetic diseases [RCV002514944]|Pituitary adenoma 5, multiple types [RCV003474806]|Usher syndrome type 1 [RCV001272551]|Usher syndrome type 1D [RCV000402667]|not provided [RCV000723774]|not specified [RCV001195485] |
Chr10:71706965 [GRCh38] Chr10:73466722 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000338523]|Inborn genetic diseases [RCV003352781]|Usher syndrome type 1D [RCV000281132]|not provided [RCV000152947] |
Chr10:71712745 [GRCh38] Chr10:73472502 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4209+1G>T |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474807]|not provided [RCV000177808] |
Chr10:71734659 [GRCh38] Chr10:73494416 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275570]|not provided [RCV000152950] |
Chr10:71791251 [GRCh38] Chr10:73551008 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.8867G>A (p.Arg2956His) |
single nucleotide variant |
not provided [RCV000152952] |
Chr10:71809964 [GRCh38] Chr10:73569721 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107060]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002503688]|Usher syndrome [RCV001004784]|Usher syndrome type 1D [RCV001104308]|not provided [RCV000479783] |
Chr10:71778252 [GRCh38] Chr10:73538009 [GRCh37] Chr10:10q22.1 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001102564]|Usher syndrome type 1 [RCV001274895]|Usher syndrome type 1D [RCV001102563]|not provided [RCV000724090]|not specified [RCV000178556] |
Chr10:71785640 [GRCh38] Chr10:73545397 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.310G>A (p.Glu104Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826910]|not provided [RCV000178982] |
Chr10:71510975 [GRCh38] Chr10:73270732 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7077A>C (p.Thr2359=) |
single nucleotide variant |
not provided [RCV000179094] |
Chr10:71799133 [GRCh38] Chr10:73558890 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000763668]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001331235]|Inborn genetic diseases [RCV000624879]|Pituitary adenoma 5, multiple types [RCV003474936]|Usher syndrome type 1 [RCV001276932]|not provided [RCV000179680]|not specified [RCV002509282] |
Chr10:71812781 [GRCh38] Chr10:73572538 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.619G>A (p.Ala207Thr) |
single nucleotide variant |
not provided [RCV000179969] |
Chr10:71566931 [GRCh38] Chr10:73326688 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002485179]|Inborn genetic diseases [RCV002516808]|Usher syndrome type 1 [RCV001826921]|not provided [RCV000585427]|not specified [RCV001449745] |
Chr10:71815234 [GRCh38] Chr10:73574991 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000844911]|Usher syndrome type 1 [RCV001833093]|not provided [RCV000180037] |
Chr10:71815249 [GRCh38] Chr10:73575006 [GRCh37] Chr10:10q22.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_022124.6(CDH23):c.9759C>T (p.Asp3253=) |
single nucleotide variant |
not provided [RCV000180038] |
Chr10:71814972 [GRCh38] Chr10:73574729 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002492763]|Inborn genetic diseases [RCV000623921]|Usher syndrome type 1 [RCV001272554]|not provided [RCV000176764] |
Chr10:71709163 [GRCh38] Chr10:73468920 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2494A>C (p.Lys832Gln) |
single nucleotide variant |
not provided [RCV000176420] |
Chr10:71702118 [GRCh38] Chr10:73461875 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2532C>T (p.Asn844=) |
single nucleotide variant |
not provided [RCV000176421] |
Chr10:71702156 [GRCh38] Chr10:73461913 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3010G>A (p.Val1004Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001271857]|not provided [RCV000965141]|not specified [RCV000176688] |
Chr10:71706953 [GRCh38] Chr10:73466710 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3802G>A (p.Val1268Met) |
single nucleotide variant |
CDH23-related condition [RCV003398891]|Usher syndrome type 1 [RCV001826900]|not provided [RCV000177658]|not specified [RCV000825301] |
Chr10:71732073 [GRCh38] Chr10:73491830 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000402494]|CDH23-Related Disorders [RCV000300308]|Usher syndrome type 1 [RCV001274894]|Usher syndrome type 1D [RCV000334297]|not provided [RCV000725133]|not specified [RCV000392607] |
Chr10:71785035 [GRCh38] Chr10:73544792 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1719C>T (p.Asn573=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000262216]|CDH23-Related Disorders [RCV000353603]|Usher syndrome type 1 [RCV001275929]|Usher syndrome type 1D [RCV000317344]|not provided [RCV000374181] |
Chr10:71677660 [GRCh38] Chr10:73437417 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3106+17C>T |
single nucleotide variant |
not provided [RCV002054367]|not specified [RCV000219478] |
Chr10:71707066 [GRCh38] Chr10:73466823 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104486]|Usher syndrome type 1D [RCV001104485]|not provided [RCV000961168]|not specified [RCV000221794] |
Chr10:71788990 [GRCh38] Chr10:73548747 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000403602]|CDH23-Related Disorders [RCV000345859]|Inborn genetic diseases [RCV002519603]|Usher syndrome type 1 [RCV001275944]|Usher syndrome type 1D [RCV000309502]|not provided [RCV001245326]|not specified [RCV000221903] |
Chr10:71702672 [GRCh38] Chr10:73462429 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4210-13C>T |
single nucleotide variant |
not provided [RCV001493981]|not specified [RCV000215352] |
Chr10:71738485 [GRCh38] Chr10:73498242 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4210-14A>C |
single nucleotide variant |
not provided [RCV001513652]|not specified [RCV000219661] |
Chr10:71738484 [GRCh38] Chr10:73498241 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.1752+6G>A |
single nucleotide variant |
not provided [RCV000730418]|not specified [RCV000213101] |
Chr10:71677699 [GRCh38] Chr10:73437456 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3151G>A (p.Val1051Ile) |
single nucleotide variant |
not provided [RCV002517468]|not specified [RCV000217299] |
Chr10:71709142 [GRCh38] Chr10:73468899 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106599]|Usher syndrome type 1 [RCV000221834]|not provided [RCV000726009]|not specified [RCV000217321] |
Chr10:71709169 [GRCh38] Chr10:73468926 [GRCh37] Chr10:10q22.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1680C>T (p.Thr560=) |
single nucleotide variant |
not provided [RCV001484796]|not specified [RCV000213156] |
Chr10:71677621 [GRCh38] Chr10:73437378 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9883A>C (p.Thr3295Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002519625]|Usher syndrome type 1 [RCV001828069]|not provided [RCV001052960]|not specified [RCV000213175] |
Chr10:71815096 [GRCh38] Chr10:73574853 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9413G>A (p.Arg3138Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833198]|not provided [RCV001062127]|not specified [RCV000213318] |
Chr10:71812512 [GRCh38] Chr10:73572269 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.67+8C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001102958]|Usher syndrome type 1 [RCV001833180]|Usher syndrome type 1D [RCV001102959]|not provided [RCV000898831]|not specified [RCV000219868] |
Chr10:71439906 [GRCh38] Chr10:73199663 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.6927C>T (p.Ala2309=) |
single nucleotide variant |
not provided [RCV000933628]|not specified [RCV000219929] |
Chr10:71798451 [GRCh38] Chr10:73558208 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3299C>T (p.Pro1100Leu) |
single nucleotide variant |
not specified [RCV000222302] |
Chr10:71712743 [GRCh38] Chr10:73472500 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2289+11_2289+12delinsCT |
indel |
not specified [RCV000217560] |
Chr10:71694270..71694271 [GRCh38] Chr10:73454027..73454028 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8322GAA[1] (p.Lys2775del) |
microsatellite |
Retinal dystrophy [RCV001074479]|Usher syndrome type 1 [RCV001833196]|not provided [RCV001853436]|not specified [RCV000220041] |
Chr10:71807528..71807530 [GRCh38] Chr10:73567285..73567287 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103612]|Usher syndrome type 1 [RCV001828064]|Usher syndrome type 1D [RCV001103611]|not provided [RCV001240604]|not specified [RCV000217626] |
Chr10:71712772 [GRCh38] Chr10:73472529 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105171]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002500707]|Inborn genetic diseases [RCV002517535]|Usher syndrome type 1 [RCV001275928]|Usher syndrome type 1D [RCV001105170]|not provided [RCV001239936]|not specified [RCV000220115] |
Chr10:71677613 [GRCh38] Chr10:73437370 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8574C>T (p.Asp2858=) |
single nucleotide variant |
not provided [RCV000943597]|not specified [RCV000213641] |
Chr10:71807859 [GRCh38] Chr10:73567616 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000395353]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002503851]|CDH23-Related Disorders [RCV000300671]|Usher syndrome type 1 [RCV001272553]|Usher syndrome type 1D [RCV000353250]|not provided [RCV001061643]|not specified [RCV000213719] |
Chr10:71709109 [GRCh38] Chr10:73468866 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5519G>A (p.Arg1840Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104393]|Usher syndrome type 1 [RCV001828066]|Usher syndrome type 1D [RCV001104394]|not provided [RCV001246408]|not specified [RCV000215507] |
Chr10:71784907 [GRCh38] Chr10:73544664 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9283A>G (p.Lys3095Glu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828068]|not specified [RCV000220231] |
Chr10:71811717 [GRCh38] Chr10:73571474 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4207-8G>T |
single nucleotide variant |
not provided [RCV001409249]|not specified [RCV000215606] |
Chr10:71734648 [GRCh38] Chr10:73494405 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9511-7T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108438]|Usher syndrome type 1D [RCV001108437]|not provided [RCV000896733]|not specified [RCV000217984] |
Chr10:71812761 [GRCh38] Chr10:73572518 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.1949dup (p.Leu651fs) |
duplication |
Rare genetic deafness [RCV000218031]|Usher syndrome [RCV003389464] |
Chr10:71682529..71682530 [GRCh38] Chr10:73442286..73442287 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1956C>T (p.Asn652=) |
single nucleotide variant |
not specified [RCV000220495] |
Chr10:71682542 [GRCh38] Chr10:73442299 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV003155129]|Pituitary adenoma 5, multiple types [RCV003474999]|Rare genetic deafness [RCV000213965]|Usher syndrome [RCV000710339] |
Chr10:71511163 [GRCh38] Chr10:73270920 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.1449+1G>T |
single nucleotide variant |
Rare genetic deafness [RCV000215736] |
Chr10:71646618 [GRCh38] Chr10:73406375 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000416514]|Nonsyndromic genetic hearing loss [RCV001089673]|not provided [RCV000755232]|not specified [RCV000215740] |
Chr10:71798390 [GRCh38] Chr10:73558147 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.5919C>T (p.Pro1973=) |
single nucleotide variant |
not provided [RCV000929620]|not specified [RCV000215803] |
Chr10:71789038 [GRCh38] Chr10:73548795 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001332452]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002500708]|Usher syndrome type 1 [RCV001828070]|not provided [RCV001041568]|not specified [RCV000218211] |
Chr10:71815117 [GRCh38] Chr10:73574874 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2701G>A (p.Glu901Lys) |
single nucleotide variant |
Rare genetic deafness [RCV000220607] |
Chr10:71702662 [GRCh38] Chr10:73462419 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.5(CDH23):c.337del |
deletion |
Usher syndrome type 1D [RCV001544523] |
Chr10:71511119 [GRCh38] Chr10:73270876 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.9746A>G (p.Gln3249Arg) |
single nucleotide variant |
not specified [RCV000218279] |
Chr10:71814959 [GRCh38] Chr10:73574716 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2876C>T (p.Ala959Val) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272547]|not provided [RCV001244237]|not specified [RCV000220677] |
Chr10:71705053 [GRCh38] Chr10:73464810 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2067G>A (p.Thr689=) |
single nucleotide variant |
not provided [RCV000944551]|not specified [RCV000214228] |
Chr10:71690475 [GRCh38] Chr10:73450232 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4046G>A (p.Arg1349His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828063]|not provided [RCV001228297]|not specified [RCV000218480] |
Chr10:71732317 [GRCh38] Chr10:73492074 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106134]|Usher syndrome type 1 [RCV001828053]|Usher syndrome type 1D [RCV001106133]|not provided [RCV000911026]|not specified [RCV000218523] |
Chr10:71810506 [GRCh38] Chr10:73570263 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.10033A>C (p.Met3345Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002519602]|not provided [RCV001046169]|not specified [RCV000222684] |
Chr10:71815246 [GRCh38] Chr10:73575003 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2132_2136del (p.Tyr711fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000515680] |
Chr10:71690540..71690544 [GRCh38] Chr10:73450297..73450301 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8404A>G (p.Ile2802Val) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828067]|not specified [RCV000214370] |
Chr10:71807611 [GRCh38] Chr10:73567368 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474995]|Rare genetic deafness [RCV000214408]|not provided [RCV002517526] |
Chr10:71812813 [GRCh38] Chr10:73572570 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.3847G>A (p.Val1283Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272890]|not provided [RCV000513052]|not specified [RCV000216214] |
Chr10:71732118 [GRCh38] Chr10:73491875 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002494566]|Usher syndrome type 1 [RCV001275578]|not provided [RCV000657978]|not specified [RCV000222742] |
Chr10:71793582 [GRCh38] Chr10:73553339 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000225060]|not provided [RCV001853435]|not specified [RCV000216327] |
Chr10:71805836 [GRCh38] Chr10:73565593 [GRCh37] Chr10:10q22.1 |
pathogenic|uncertain significance |
NM_022124.6(CDH23):c.1514+13C>T |
single nucleotide variant |
not provided [RCV001434157]|not specified [RCV000216422] |
Chr10:71675189 [GRCh38] Chr10:73434946 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1080G>T (p.Leu360=) |
single nucleotide variant |
not provided [RCV000977617]|not specified [RCV000218728] |
Chr10:71617339 [GRCh38] Chr10:73377096 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5988C>T (p.Ala1996=) |
single nucleotide variant |
not specified [RCV000218822] |
Chr10:71790352 [GRCh38] Chr10:73550109 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5179A>G (p.Thr1727Ala) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828065]|not provided [RCV001853434]|not specified [RCV000221195] |
Chr10:71778300 [GRCh38] Chr10:73538057 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3566G>T (p.Arg1189Leu) |
single nucleotide variant |
not specified [RCV000221217] |
Chr10:71725507 [GRCh38] Chr10:73485264 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5025C>T (p.Val1675=) |
single nucleotide variant |
not provided [RCV000976408]|not specified [RCV000214732] |
Chr10:71777859 [GRCh38] Chr10:73537616 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1515-12G>A |
single nucleotide variant |
Nonsyndromic genetic hearing loss [RCV001544540]|Pituitary adenoma 5, multiple types [RCV003474998]|Usher syndrome [RCV001089674]|Usher syndrome type 1 [RCV001833194]|Usher syndrome type 1D [RCV000678531]|not provided [RCV000486086]|not specified [RCV000216452] |
Chr10:71677444 [GRCh38] Chr10:73437201 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.9264G>C (p.Trp3088Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833197]|not specified [RCV000216594] |
Chr10:71811576 [GRCh38] Chr10:73571333 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4786C>T (p.Arg1596Cys) |
single nucleotide variant |
not provided [RCV000969900]|not specified [RCV000218885] |
Chr10:71741862 [GRCh38] Chr10:73501619 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4947G>A (p.Thr1649=) |
single nucleotide variant |
not provided [RCV000937626]|not specified [RCV000221351] |
Chr10:71777781 [GRCh38] Chr10:73537538 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7483-1G>C |
single nucleotide variant |
Rare genetic deafness [RCV000221407]|not provided [RCV001853426] |
Chr10:71802897 [GRCh38] Chr10:73562654 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000394377]|CDH23-Related Disorders [RCV000308620]|Usher syndrome type 1D [RCV000359192]|not provided [RCV000940784]|not specified [RCV000223100] |
Chr10:71791220 [GRCh38] Chr10:73550977 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000295466]|Autosomal recessive nonsyndromic hearing loss 12 [RCV000764915]|CDH23-Related Disorders [RCV000373597]|Usher syndrome type 1 [RCV001272564]|Usher syndrome type 1D [RCV000316688]|not provided [RCV000766504]|not specified [RCV000223124] |
Chr10:71732010 [GRCh38] Chr10:73491767 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu) |
indel |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002503837]|not provided [RCV000941411]|not specified [RCV000214886] |
Chr10:71806223..71806224 [GRCh38] Chr10:73565980..73565981 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103165]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002478764]|Usher syndrome type 1 [RCV000214890]|Usher syndrome type 1D [RCV001103164]|not provided [RCV001243107]|not specified [RCV002509308] |
Chr10:71811364 [GRCh38] Chr10:73571121 [GRCh37] Chr10:10q22.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2032G>A (p.Val678Ile) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833195]|not provided [RCV001361168]|not specified [RCV000216752] |
Chr10:71687692 [GRCh38] Chr10:73447449 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.535G>A (p.Ala179Thr) |
single nucleotide variant |
not provided [RCV001853407]|not specified [RCV000219086] |
Chr10:71566847 [GRCh38] Chr10:73326604 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5789A>G (p.Asp1930Gly) |
single nucleotide variant |
not provided [RCV001565078]|not specified [RCV000219104] |
Chr10:71785707 [GRCh38] Chr10:73545464 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6786C>T (p.Asp2262=) |
single nucleotide variant |
not provided [RCV002515620]|not specified [RCV000223181] |
Chr10:71797177 [GRCh38] Chr10:73556934 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002478766]|Usher syndrome type 1 [RCV001835729]|not provided [RCV001212812]|not specified [RCV000223293] |
Chr10:71570917 [GRCh38] Chr10:73330674 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6275C>T (p.Thr2092Ile) |
single nucleotide variant |
not provided [RCV000900248]|not specified [RCV000216851] |
Chr10:71793203 [GRCh38] Chr10:73552960 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-6A>T |
single nucleotide variant |
Usher syndrome type 1 [RCV001272886]|not provided [RCV000727019]|not specified [RCV000221627] |
Chr10:71725366 [GRCh38] Chr10:73485123 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103166]|Usher syndrome type 1 [RCV001828054]|Usher syndrome type 1D [RCV001103167]|not provided [RCV000911027]|not specified [RCV000223358] |
Chr10:71811550 [GRCh38] Chr10:73571307 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000326886]|CDH23-Related Disorders [RCV000291797]|Usher syndrome type 1 [RCV001833179]|Usher syndrome type 1D [RCV000381411]|not provided [RCV000954709]|not specified [RCV000223381] |
Chr10:71784360 [GRCh38] Chr10:73544117 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.1514+6A>G |
single nucleotide variant |
Usher syndrome type 1 [RCV001833193]|not provided [RCV000727018]|not specified [RCV000223453] |
Chr10:71675182 [GRCh38] Chr10:73434939 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6795C>T (p.Ser2265=) |
single nucleotide variant |
not provided [RCV001445427]|not specified [RCV000216916] |
Chr10:71797186 [GRCh38] Chr10:73556943 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.781A>C (p.Ile261Leu) |
single nucleotide variant |
not specified [RCV000219394] |
Chr10:71577941 [GRCh38] Chr10:73337698 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475052]|Retinal dystrophy [RCV000225547]|not provided [RCV000760510] |
Chr10:71805841 [GRCh38] Chr10:73565598 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.2398-1G>T |
single nucleotide variant |
Retinal dystrophy [RCV000225441]|not provided [RCV001227028] |
Chr10:71702021 [GRCh38] Chr10:73461778 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.6707A>G (p.Asn2236Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830654]|not provided [RCV000757070] |
Chr10:71793635 [GRCh38] Chr10:73553392 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9247T>A (p.Phe3083Ile) |
single nucleotide variant |
not provided [RCV000757072] |
Chr10:71811559 [GRCh38] Chr10:73571316 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1087del (p.Val363fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002467453]|Pituitary adenoma 5, multiple types [RCV003472274]|not provided [RCV000755909] |
Chr10:71617345 [GRCh38] Chr10:73377102 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.1621G>A (p.Glu541Lys) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Recessive [RCV000360659]|Retinitis pigmentosa-deafness syndrome [RCV000306555]|Usher syndrome type 1 [RCV001833253]|not provided [RCV001202576]|not specified [RCV000238717] |
Chr10:71677562 [GRCh38] Chr10:73437319 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn) |
single nucleotide variant |
Usher syndrome type 1D [RCV000625802] |
Chr10:71702034 [GRCh38] Chr10:73461791 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6402_6405del (p.Glu2135fs) |
microsatellite |
not provided [RCV000337583] |
Chr10:71793328..71793331 [GRCh38] Chr10:73553085..73553088 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.9319+18T>C |
single nucleotide variant |
not specified [RCV000600342] |
Chr10:71811771 [GRCh38] Chr10:73571528 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5807G>A (p.Arg1936His) |
single nucleotide variant |
Inborn genetic diseases [RCV002531682]|Usher syndrome type 1 [RCV001834960]|not provided [RCV002528792]|not specified [RCV000603621] |
Chr10:71785725 [GRCh38] Chr10:73545482 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8064+1G>T |
single nucleotide variant |
Rare genetic deafness [RCV000603092]|not provided [RCV001222595] |
Chr10:71805998 [GRCh38] Chr10:73565755 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.4396G>T (p.Ala1466Ser) |
single nucleotide variant |
not specified [RCV000600109] |
Chr10:71739680 [GRCh38] Chr10:73499437 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3370-29G>A |
single nucleotide variant |
not provided [RCV000837047]|not specified [RCV000248456] |
Chr10:71724016 [GRCh38] Chr10:73483773 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2587+45C>T |
single nucleotide variant |
not specified [RCV000243710] |
Chr10:71702256 [GRCh38] Chr10:73462013 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5503-44T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533707]|Usher syndrome type 1D [RCV001533706]|not provided [RCV000835157]|not specified [RCV000243730] |
Chr10:71784847 [GRCh38] Chr10:73544604 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4846-49T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533648]|Usher syndrome type 1D [RCV001533647]|not provided [RCV001610729]|not specified [RCV000251220] |
Chr10:71777631 [GRCh38] Chr10:73537388 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2397+26T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533764]|Usher syndrome type 1D [RCV001533763]|not provided [RCV000829475]|not specified [RCV000251483] |
Chr10:71695551 [GRCh38] Chr10:73455308 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.7225-22C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533774]|Usher syndrome type 1D [RCV001533773]|not provided [RCV000836110]|not specified [RCV000254262] |
Chr10:71799470 [GRCh38] Chr10:73559227 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4488+32C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533590]|Usher syndrome type 1D [RCV001533589]|not provided [RCV000829478]|not specified [RCV000254287] |
Chr10:71739804 [GRCh38] Chr10:73499561 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.7407C>T (p.Asp2469=) |
single nucleotide variant |
not provided [RCV001493771] |
Chr10:71800680 [GRCh38] Chr10:73560437 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5985C>T (p.Tyr1995=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107253]|Usher syndrome type 1D [RCV001107252]|not provided [RCV000888461]|not specified [RCV000247067] |
Chr10:71790349 [GRCh38] Chr10:73550106 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5187+44C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533650]|Usher syndrome type 1D [RCV001533649]|not provided [RCV001636818]|not specified [RCV000249821] |
Chr10:71778352 [GRCh38] Chr10:73538109 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4877A>C (p.Asp1626Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000515672] |
Chr10:71777711 [GRCh38] Chr10:73537468 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1753-43T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533696]|Usher syndrome type 1D [RCV001533695]|not provided [RCV000829474]|not specified [RCV000252682] |
Chr10:71679344 [GRCh38] Chr10:73439101 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2359_2382del (p.Leu787_Asp794del) |
deletion |
not provided [RCV001211136]|not specified [RCV000243199] |
Chr10:71695485..71695508 [GRCh38] Chr10:73455242..73455265 [GRCh37] Chr10:10q22.1 |
pathogenic|likely benign|uncertain significance |
NM_022124.6(CDH23):c.429+26A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533635]|Usher syndrome type 1D [RCV001533586]|not provided [RCV000829471]|not specified [RCV000245973] |
Chr10:71511238 [GRCh38] Chr10:73270995 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.8729T>C (p.Met2910Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276059]|not provided [RCV000520879] |
Chr10:71809826 [GRCh38] Chr10:73569583 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.-185G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000267616]|Usher syndrome type 1D [RCV000324913] |
Chr10:71397139 [GRCh38] Chr10:73156896 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1168T>C (p.Leu390=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000323059]|Usher syndrome type 1D [RCV000267939]|not provided [RCV000906653] |
Chr10:71645858 [GRCh38] Chr10:73405615 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5542G>A (p.Asp1848Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000343394]|Usher syndrome type 1D [RCV000283673]|not provided [RCV002520619] |
Chr10:71784930 [GRCh38] Chr10:73544687 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.321C>G (p.Val107=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000376196]|CDH23-Related Disorders [RCV000284129]|Usher syndrome type 1D [RCV000341503]|not provided [RCV000944337] |
Chr10:71510986 [GRCh38] Chr10:73270743 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4390G>A (p.Ala1464Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000284311]|Usher syndrome type 1D [RCV000336962]|not provided [RCV002520617] |
Chr10:71739674 [GRCh38] Chr10:73499431 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8878G>A (p.Val2960Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000391639]|Usher syndrome type 1D [RCV000344678]|not provided [RCV002520622]|not specified [RCV001797703] |
Chr10:71809975 [GRCh38] Chr10:73569732 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000346104]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002487337]|Usher syndrome type 1D [RCV000396146]|not provided [RCV002522163] |
Chr10:71677548 [GRCh38] Chr10:73437305 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000269340]|Usher syndrome type 1 [RCV001828302]|Usher syndrome type 1D [RCV000324478]|not provided [RCV000944688] |
Chr10:71694205 [GRCh38] Chr10:73453962 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4780C>T (p.Arg1594Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000366515]|Usher syndrome type 1 [RCV001277736]|Usher syndrome type 1D [RCV000269560]|not provided [RCV001723885] |
Chr10:71741856 [GRCh38] Chr10:73501613 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8899C>T (p.Arg2967Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000303778]|Usher syndrome type 1D [RCV000404971]|not provided [RCV002520623] |
Chr10:71809996 [GRCh38] Chr10:73569753 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5727T>C (p.Thr1909=) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Recessive [RCV000370018]|Retinitis pigmentosa-deafness syndrome [RCV000270779]|not provided [RCV001490330] |
Chr10:71785645 [GRCh38] Chr10:73545402 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5865C>T (p.Asn1955=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000323372]|Usher syndrome type 1D [RCV000286902]|not provided [RCV002056128] |
Chr10:71788984 [GRCh38] Chr10:73548741 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9198+13C>T |
single nucleotide variant |
Nonsyndromic Hearing Loss, Recessive [RCV000286697]|Retinitis pigmentosa-deafness syndrome [RCV000334748]|not provided [RCV002056129]|not specified [RCV000608038] |
Chr10:71811448 [GRCh38] Chr10:73571205 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4857C>T (p.His1619=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000287247]|CDH23-Related Disorders [RCV000378307]|Usher syndrome type 1D [RCV000321303]|not provided [RCV000983656] |
Chr10:71777691 [GRCh38] Chr10:73537448 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5257G>A (p.Glu1753Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000360105]|CDH23-Related Disorders [RCV000398196]|Usher syndrome type 1D [RCV000305443]|not provided [RCV002520618] |
Chr10:71779336 [GRCh38] Chr10:73539093 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.-15C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000362541]|CDH23-Related Disorders [RCV000305579]|Usher syndrome type 1D [RCV000390411]|not specified [RCV000432888] |
Chr10:71397309 [GRCh38] Chr10:73157066 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.386C>T (p.Ala129Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000400593]|Usher syndrome type 1 [RCV001279020]|Usher syndrome type 1D [RCV000348959]|not provided [RCV002520611] |
Chr10:71511169 [GRCh38] Chr10:73270926 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000288653]|Inborn genetic diseases [RCV003165814]|Pituitary adenoma 5, multiple types [RCV003475927]|Usher syndrome type 1 [RCV001273555]|Usher syndrome type 1D [RCV000343595]|not provided [RCV000594106] |
Chr10:71779307 [GRCh38] Chr10:73539064 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2794G>A (p.Gly932Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000306218]|CDH23-Related Disorders [RCV000360927]|Usher syndrome type 1D [RCV000399029]|not provided [RCV002522164] |
Chr10:71704971 [GRCh38] Chr10:73464728 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7661-9C>T |
single nucleotide variant |
Nonsyndromic Hearing Loss, Recessive [RCV000384155]|Retinitis pigmentosa-deafness syndrome [RCV000327355] |
Chr10:71803200 [GRCh38] Chr10:73562957 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000364456]|CDH23-Related Disorders [RCV000272680]|Usher syndrome type 1D [RCV000330781]|not provided [RCV001431605]|not specified [RCV000825120] |
Chr10:71709204 [GRCh38] Chr10:73468961 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2176+12C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000327893]|CDH23-Related Disorders [RCV000382433]|Usher syndrome type 1D [RCV000273001]|not provided [RCV001476074] |
Chr10:71690596 [GRCh38] Chr10:73450353 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000389279]|CDH23-Related Disorders [RCV000273841]|Usher syndrome type 1D [RCV000332278]|not provided [RCV000903491] |
Chr10:71734314 [GRCh38] Chr10:73494071 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000313690]|CDH23-Related Disorders [RCV000273914]|Usher syndrome type 1 [RCV001272555]|Usher syndrome type 1D [RCV000370779]|not provided [RCV000911401]|not specified [RCV000604669] |
Chr10:71709177 [GRCh38] Chr10:73468934 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.8309-3C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000403407]|CDH23-Related Disorders [RCV000308071]|Usher syndrome type 1D [RCV000352437]|not provided [RCV001050510] |
Chr10:71807513 [GRCh38] Chr10:73567270 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000388322]|Usher syndrome type 1 [RCV001275942]|Usher syndrome type 1D [RCV000352367]|not provided [RCV000913656]|not specified [RCV000603389] |
Chr10:71702192 [GRCh38] Chr10:73461949 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.5711C>T (p.Thr1904Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000369075]|CDH23-Related Disorders [RCV000274496]|Usher syndrome type 1 [RCV001828303]|Usher syndrome type 1D [RCV000315532]|not provided [RCV001038295] |
Chr10:71785099 [GRCh38] Chr10:73544856 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5328C>A (p.Asn1776Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000330204]|Usher syndrome type 1D [RCV000275191]|not provided [RCV001859786] |
Chr10:71779407 [GRCh38] Chr10:73539164 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7362+14G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000339955]|CDH23-Related Disorders [RCV000383881]|Usher syndrome type 1D [RCV000292073]|not provided [RCV001571668] |
Chr10:71799643 [GRCh38] Chr10:73559400 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.9014C>T (p.Ala3005Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000275401]|Usher syndrome type 1 [RCV001828308]|Usher syndrome type 1D [RCV000333339]|not provided [RCV001240734] |
Chr10:71810506 [GRCh38] Chr10:73570263 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7091A>G (p.Glu2364Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000275592]|CDH23-Related Disorders [RCV000332923]|Usher syndrome type 1D [RCV000389906] |
Chr10:71799147 [GRCh38] Chr10:73558904 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.*1C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000337821]|CDH23-Related Disorders [RCV000292342]|Usher syndrome type 1D [RCV000403967] |
Chr10:71815279 [GRCh38] Chr10:73575036 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000292248]|Usher syndrome type 1 [RCV001276060]|Usher syndrome type 1D [RCV000374993]|not provided [RCV000726895] |
Chr10:71809872 [GRCh38] Chr10:73569629 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000292456]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002504057]|CDH23-Related Disorders [RCV000352101]|Usher syndrome type 1 [RCV001828304]|Usher syndrome type 1D [RCV000403479]|not provided [RCV001361787] |
Chr10:71790368 [GRCh38] Chr10:73550125 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.367G>C (p.Gly123Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000310415]|CDH23-Related Disorders [RCV000395269]|Usher syndrome type 1D [RCV000345540] |
Chr10:71511150 [GRCh38] Chr10:73270907 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2915C>T (p.Thr972Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000260255]|Inborn genetic diseases [RCV002520613]|Usher syndrome type 1D [RCV000317745]|not provided [RCV002520614]|not specified [RCV000785150] |
Chr10:71705092 [GRCh38] Chr10:73464849 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.446C>T (p.Thr149Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002480094]|Nonsyndromic Hearing Loss, Recessive [RCV000299132]|Retinitis pigmentosa-deafness syndrome [RCV000260292]|not provided [RCV002520612] |
Chr10:71566758 [GRCh38] Chr10:73326515 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002470841]|Nonsyndromic Hearing Loss, Recessive [RCV000260791]|Retinitis pigmentosa-deafness syndrome [RCV000353292]|not provided [RCV002520616] |
Chr10:71734282 [GRCh38] Chr10:73494039 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6421A>G (p.Arg2141Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000315929]|CDH23-Related Disorders [RCV000260679]|Inborn genetic diseases [RCV002522165]|Usher syndrome type 1 [RCV001275574]|Usher syndrome type 1D [RCV000375252]|not provided [RCV000414297] |
Chr10:71793349 [GRCh38] Chr10:73553106 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8743C>T (p.Arg2915Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000318000]|CDH23-Related Disorders [RCV000353096]|Usher syndrome type 1D [RCV000260570]|not provided [RCV002520621] |
Chr10:71809840 [GRCh38] Chr10:73569597 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1778A>C (p.Asn593Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000329305]|CDH23-Related Disorders [RCV000384102]|Usher syndrome type 1D [RCV000293047]|not provided [RCV001770239] |
Chr10:71679412 [GRCh38] Chr10:73439169 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.960C>T (p.Asn320=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000385459]|CDH23-Related Disorders [RCV000293510]|Usher syndrome type 1D [RCV000347147]|not provided [RCV001496809] |
Chr10:71617219 [GRCh38] Chr10:73376976 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3915C>T (p.Asn1305=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000294260]|CDH23-Related Disorders [RCV000386177]|Usher syndrome type 1D [RCV000352687]|not provided [RCV001425757] |
Chr10:71732186 [GRCh38] Chr10:73491943 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_001164375.3(C10orf105):c.*3111C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000404267]|Usher syndrome type 1D [RCV000311695]|not provided [RCV001403346]|not specified [RCV000611678] |
Chr10:71712825 [GRCh38] Chr10:73472582 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.1751G>A (p.Arg584Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000277579]|CDH23-Related Disorders [RCV000332945]|Usher syndrome type 1 [RCV001828301]|Usher syndrome type 1D [RCV000387488]|not provided [RCV001361108] |
Chr10:71677692 [GRCh38] Chr10:73437449 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2953+10C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000370037]|Usher syndrome type 1D [RCV000277784]|not provided [RCV000945149] |
Chr10:71705140 [GRCh38] Chr10:73464897 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000318745]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002480095]|CDH23-Related Disorders [RCV000373209]|Usher syndrome [RCV001824727]|Usher syndrome type 1 [RCV001271853]|Usher syndrome type 1D [RCV000278654]|not provided [RCV000766847]|not specified [RCV000487080] |
Chr10:71702148 [GRCh38] Chr10:73461905 [GRCh37] Chr10:10q22.1 |
uncertain significance|not provided |
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000373401]|Usher syndrome type 1 [RCV001275567]|Usher syndrome type 1D [RCV000278877]|not provided [RCV000888423]|not specified [RCV000443119] |
Chr10:71790295 [GRCh38] Chr10:73550052 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.-45AGGCG[4] |
microsatellite |
CDH23-Related Disorders [RCV000278801]|Nonsyndromic Hearing Loss, Recessive [RCV000336161]|Retinitis pigmentosa-deafness syndrome [RCV000293582]|not provided [RCV001636864]|not specified [RCV000454789] |
Chr10:71397276..71397277 [GRCh38] Chr10:73157033..73157034 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.10042C>A (p.Pro3348Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000295856]|CDH23-Related Disorders [RCV000350828]|Usher syndrome type 1D [RCV000393852]|not provided [RCV002522166] |
Chr10:71815255 [GRCh38] Chr10:73575012 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8009G>A (p.Ser2670Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000408014]|CDH23-Related Disorders [RCV000338254]|Usher syndrome type 1D [RCV000313902] |
Chr10:71805942 [GRCh38] Chr10:73565699 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8824G>A (p.Asp2942Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000388688]|CDH23-Related Disorders [RCV000330831]|Usher syndrome type 1D [RCV000296684]|not provided [RCV000941578] |
Chr10:71809921 [GRCh38] Chr10:73569678 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.-258G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000296677]|Usher syndrome type 1D [RCV000335424]|not provided [RCV001711900] |
Chr10:71397066 [GRCh38] Chr10:73156823 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.1062C>T (p.Ser354=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000394171]|CDH23-Related Disorders [RCV000351382]|Usher syndrome type 1D [RCV000315269]|not provided [RCV000914144] |
Chr10:71617321 [GRCh38] Chr10:73377078 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.6376C>T (p.Arg2126Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000264398]|CDH23-Related Disorders [RCV000360307]|Usher syndrome type 1 [RCV001828305]|Usher syndrome type 1D [RCV000324316]|not provided [RCV001224691] |
Chr10:71793304 [GRCh38] Chr10:73553061 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000280841]|Usher syndrome type 1 [RCV001828306]|Usher syndrome type 1D [RCV000331450]|not provided [RCV000730499]|not specified [RCV000600911] |
Chr10:71793357 [GRCh38] Chr10:73553114 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000372850]|CDH23-Related Disorders [RCV000334832]|Usher syndrome type 1D [RCV000280892]|not provided [RCV000911402] |
Chr10:71805932 [GRCh38] Chr10:73565689 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4451C>T (p.Pro1484Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000297636]|Usher syndrome type 1D [RCV000396019]|not provided [RCV000924141]|not specified [RCV001195443] |
Chr10:71739735 [GRCh38] Chr10:73499492 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8931C>T (p.His2977=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000360453]|CDH23-Related Disorders [RCV000404242]|Usher syndrome type 1D [RCV000297546]|not provided [RCV001473848] |
Chr10:71810028 [GRCh38] Chr10:73569785 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.10010T>C (p.Leu3337Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000265816]|CDH23-Related Disorders [RCV000320947]|Usher syndrome type 1D [RCV000384867] |
Chr10:71815223 [GRCh38] Chr10:73574980 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7482+12C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000402836]|CDH23-Related Disorders [RCV000342979]|Usher syndrome type 1D [RCV000298796] |
Chr10:71800767 [GRCh38] Chr10:73560524 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4103C>T (p.Thr1368Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000300732]|Usher syndrome type 1D [RCV000265935]|not provided [RCV002520615] |
Chr10:71732374 [GRCh38] Chr10:73492131 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000266567]|CDH23-Related Disorders [RCV000324019]|Pituitary adenoma 5, multiple types [RCV001198029]|Usher syndrome type 1 [RCV001828307]|Usher syndrome type 1D [RCV000359502]|not provided [RCV001243662] |
Chr10:71807929 [GRCh38] Chr10:73567686 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5037C>T (p.Ile1679=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000361770]|CDH23-Related Disorders [RCV000320837]|Usher syndrome type 1D [RCV000267155]|not provided [RCV000942615] |
Chr10:71777871 [GRCh38] Chr10:73537628 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9108G>A (p.Glu3036=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000282723]|CDH23-Related Disorders [RCV000340207]|Usher syndrome type 1D [RCV000407587]|not provided [RCV000933441] |
Chr10:71811345 [GRCh38] Chr10:73571102 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2869C>T (p.Arg957Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000355281]|CDH23-Related Disorders [RCV000300400]|Inborn genetic diseases [RCV003165813]|Usher syndrome type 1 [RCV001833436]|Usher syndrome type 1D [RCV000399024]|not provided [RCV001241687] |
Chr10:71705046 [GRCh38] Chr10:73464803 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1858+6T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000300497]|CDH23-Related Disorders [RCV000395141]|Usher syndrome type 1 [RCV001833435]|Usher syndrome type 1D [RCV000355375]|not provided [RCV001243661] |
Chr10:71679498 [GRCh38] Chr10:73439255 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4346G>A (p.Gly1449Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000342777]|Usher syndrome type 1D [RCV000403849]|not provided [RCV001788193] |
Chr10:71738634 [GRCh38] Chr10:73498391 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000261912]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002487338]|CDH23-Related Disorders [RCV000329121]|Usher syndrome type 1 [RCV001828309]|Usher syndrome type 1D [RCV000376823]|not provided [RCV001582928] |
Chr10:71812873 [GRCh38] Chr10:73572630 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.*85G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000270404]|CDH23-Related Disorders [RCV000328932]|Usher syndrome type 1D [RCV000364985] |
Chr10:71815363 [GRCh38] Chr10:73575120 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3613G>T (p.Ala1205Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000304966]|CDH23-Related Disorders [RCV000361962]|Usher syndrome type 1D [RCV000270828] |
Chr10:71730502 [GRCh38] Chr10:73490259 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.-168C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000271208]|CDH23-Related Disorders [RCV000363302]|Usher syndrome type 1D [RCV000328555] |
Chr10:71397156 [GRCh38] Chr10:73156913 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5667C>T (p.Asn1889=) |
single nucleotide variant |
not provided [RCV000308065] |
Chr10:71785055 [GRCh38] Chr10:73544812 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.6108C>T (p.Ile2036=) |
single nucleotide variant |
not provided [RCV000307428] |
Chr10:71791190 [GRCh38] Chr10:73550947 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4782C>T (p.Arg1594=) |
single nucleotide variant |
not provided [RCV000343123] |
Chr10:71741858 [GRCh38] Chr10:73501615 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2890C>T (p.Arg964Trp) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833361]|not provided [RCV000377715] |
Chr10:71705067 [GRCh38] Chr10:73464824 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.-38G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000339542]|CDH23-Related Disorders [RCV000282312]|Usher syndrome type 1D [RCV000396127] |
Chr10:71397286 [GRCh38] Chr10:73157043 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9947C>T (p.Thr3316Ile) |
single nucleotide variant |
not provided [RCV000378195] |
Chr10:71815160 [GRCh38] Chr10:73574917 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6440C>A (p.Thr2147Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275576]|not provided [RCV000344764] |
Chr10:71793368 [GRCh38] Chr10:73553125 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9437C>T (p.Ala3146Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002519208]|not provided [RCV000346817] |
Chr10:71812536 [GRCh38] Chr10:73572293 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5788G>T (p.Asp1930Tyr) |
single nucleotide variant |
not provided [RCV000384388] |
Chr10:71785706 [GRCh38] Chr10:73545463 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8979+13C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000354723]|Usher syndrome type 1D [RCV000262338] |
Chr10:71810089 [GRCh38] Chr10:73569846 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2891G>C (p.Arg964Pro) |
single nucleotide variant |
not provided [RCV000316604] |
Chr10:71705068 [GRCh38] Chr10:73464825 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5971G>C (p.Asp1991His) |
single nucleotide variant |
not provided [RCV000388009] |
Chr10:71790335 [GRCh38] Chr10:73550092 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.*83G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000359027]|CDH23-Related Disorders [RCV000304272]|Usher syndrome type 1D [RCV000264288] |
Chr10:71815361 [GRCh38] Chr10:73575118 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7720T>C (p.Tyr2574His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000264020]|Usher syndrome type 1D [RCV000321876]|not provided [RCV002461064] |
Chr10:71803268 [GRCh38] Chr10:73563025 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3784A>C (p.Thr1262Pro) |
single nucleotide variant |
not provided [RCV000285550] |
Chr10:71732055 [GRCh38] Chr10:73491812 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8225C>T (p.Pro2742Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003243044]|Usher syndrome type 1 [RCV001276045]|not provided [RCV000725749]|not specified [RCV000391826] |
Chr10:71807323 [GRCh38] Chr10:73567080 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3614C>T (p.Ala1205Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000373739]|CDH23-Related Disorders [RCV000265055]|Usher syndrome type 1D [RCV000322537] |
Chr10:71730503 [GRCh38] Chr10:73490260 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103713]|Usher syndrome type 1D [RCV001103714]|not provided [RCV000291847] |
Chr10:71732123 [GRCh38] Chr10:73491880 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3486G>C (p.Gly1162=) |
single nucleotide variant |
not provided [RCV000262260] |
Chr10:71725427 [GRCh38] Chr10:73485184 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002494871]|not provided [RCV000294316] |
Chr10:71784388 [GRCh38] Chr10:73544145 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2990C>T (p.Pro997Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835756]|not provided [RCV000364213] |
Chr10:71706933 [GRCh38] Chr10:73466690 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.588G>A (p.Glu196=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000321350]|CDH23-Related Disorders [RCV000267380]|Usher syndrome type 1D [RCV000378275]|not provided [RCV001452208] |
Chr10:71566900 [GRCh38] Chr10:73326657 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8065-8G>A |
single nucleotide variant |
not provided [RCV000299448] |
Chr10:71806160 [GRCh38] Chr10:73565917 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9500C>A (p.Thr3167Lys) |
single nucleotide variant |
not provided [RCV000334246] |
Chr10:71812599 [GRCh38] Chr10:73572356 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4418A>G (p.Asn1473Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277731] |
Chr10:71739702 [GRCh38] Chr10:73499459 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) |
copy number loss |
Distal 10q deletion syndrome [RCV003319583] |
Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
NM_022124.6(CDH23):c.7685C>T (p.Ser2562Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276914]|not provided [RCV000726844]|not specified [RCV000597063] |
Chr10:71803233 [GRCh38] Chr10:73562990 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001270375] |
Chr10:71705023 [GRCh38] Chr10:73464780 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8429G>A (p.Ser2810Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003246150] |
Chr10:71807636 [GRCh38] Chr10:73567393 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3764A>T (p.Lys1255Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272565]|not provided [RCV000489371] |
Chr10:71732035 [GRCh38] Chr10:73491792 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2733+42C>T |
single nucleotide variant |
not provided [RCV001546512] |
Chr10:71702736 [GRCh38] Chr10:73462493 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6049+223G>A |
single nucleotide variant |
not provided [RCV001571644] |
Chr10:71790636 [GRCh38] Chr10:73550393 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.289-25C>G |
single nucleotide variant |
not provided [RCV001566253] |
Chr10:71510929 [GRCh38] Chr10:73270686 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8178A>T (p.Pro2726=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279068] |
Chr10:71806281 [GRCh38] Chr10:73566038 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8257G>T (p.Ala2753Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001823192]|Usher syndrome type 1 [RCV001279070] |
Chr10:71807355 [GRCh38] Chr10:73567112 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.8463C>T (p.Leu2821=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279074]|not provided [RCV001871556] |
Chr10:71807670 [GRCh38] Chr10:73567427 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8785G>A (p.Val2929Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002541700]|Usher syndrome type 1 [RCV001279078]|not provided [RCV001871557] |
Chr10:71809882 [GRCh38] Chr10:73569639 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9137A>G (p.Asn3046Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279080] |
Chr10:71811374 [GRCh38] Chr10:73571131 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9198+10G>A |
single nucleotide variant |
Usher syndrome type 1 [RCV001279081]|not provided [RCV002537829] |
Chr10:71811445 [GRCh38] Chr10:73571202 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9349A>G (p.Met3117Val) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279082]|not provided [RCV002537830] |
Chr10:71811984 [GRCh38] Chr10:73571741 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9458C>T (p.Pro3153Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279083]|not provided [RCV001871558] |
Chr10:71812557 [GRCh38] Chr10:73572314 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9771A>C (p.Gly3257=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279085]|not provided [RCV001445377] |
Chr10:71814984 [GRCh38] Chr10:73574741 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103353]|Usher syndrome type 1 [RCV001272668]|Usher syndrome type 1D [RCV001103352]|not provided [RCV000487839] |
Chr10:71815257 [GRCh38] Chr10:73575014 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV001196464]|not provided [RCV000487994] |
Chr10:71702690 [GRCh38] Chr10:73462447 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5030G>A (p.Gly1677Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559220]|Usher syndrome type 1D [RCV001559221]|not provided [RCV003481122] |
Chr10:71777864 [GRCh38] Chr10:73537621 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.605A>C (p.Gln202Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559301]|Usher syndrome type 1D [RCV001559302] |
Chr10:71566917 [GRCh38] Chr10:73326674 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8426G>A (p.Arg2809His) |
single nucleotide variant |
Inborn genetic diseases [RCV002573202]|Usher syndrome type 1 [RCV001832775]|not provided [RCV001567660] |
Chr10:71807633 [GRCh38] Chr10:73567390 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5820+161C>T |
single nucleotide variant |
not provided [RCV001548392] |
Chr10:71785899 [GRCh38] Chr10:73545656 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.499G>A (p.Val167Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002528794]|Usher syndrome type 1 [RCV001275414]|not provided [RCV001037297]|not specified [RCV000603073] |
Chr10:71566811 [GRCh38] Chr10:73326568 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.288+73G>A |
single nucleotide variant |
not provided [RCV001565669] |
Chr10:71510297 [GRCh38] Chr10:73270054 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5056G>A (p.Asp1686Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002542891]|Usher syndrome type 1 [RCV001278265]|not provided [RCV002537789] |
Chr10:71777890 [GRCh38] Chr10:73537647 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.6322A>G (p.Ile2108Val) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278276] |
Chr10:71793250 [GRCh38] Chr10:73553007 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6530C>T (p.Pro2177Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002530978]|Usher syndrome type 1 [RCV001829636]|not provided [RCV000594374] |
Chr10:71793458 [GRCh38] Chr10:73553215 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1134+1G>A |
single nucleotide variant |
not provided [RCV003314872] |
Chr10:71617394 [GRCh38] Chr10:73377151 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002480891]|Usher syndrome type 1 [RCV001277717]|not provided [RCV002537767] |
Chr10:71705040 [GRCh38] Chr10:73464797 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2975C>T (p.Thr992Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277718]|not provided [RCV001323723]|not specified [RCV003235531] |
Chr10:71706918 [GRCh38] Chr10:73466675 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3491G>A (p.Arg1164Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277725]|not provided [RCV001298735] |
Chr10:71725432 [GRCh38] Chr10:73485189 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3972G>A (p.Glu1324=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277727] |
Chr10:71732243 [GRCh38] Chr10:73492000 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4853C>T (p.Thr1618Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277739]|not provided [RCV002542881] |
Chr10:71777687 [GRCh38] Chr10:73537444 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4070A>G (p.Gln1357Arg) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277729]|not provided [RCV001880239] |
Chr10:71732341 [GRCh38] Chr10:73492098 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.259G>T (p.Val87Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106034]|Usher syndrome type 1 [RCV001829633]|Usher syndrome type 1D [RCV001104874]|not provided [RCV000726578]|not specified [RCV000595414] |
Chr10:71510195 [GRCh38] Chr10:73269952 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3107-312G>A |
single nucleotide variant |
not provided [RCV001574640] |
Chr10:71708786 [GRCh38] Chr10:73468543 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5385T>C (p.Ser1795=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278268]|not provided [RCV002069425] |
Chr10:71784303 [GRCh38] Chr10:73544060 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5743G>A (p.Asp1915Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278272] |
Chr10:71785661 [GRCh38] Chr10:73545418 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7263C>A (p.Ile2421=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278284]|not provided [RCV001442008] |
Chr10:71799530 [GRCh38] Chr10:73559287 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002486036]|Usher syndrome type 1 [RCV001278285]|not provided [RCV001880255] |
Chr10:71799562 [GRCh38] Chr10:73559319 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5748C>T (p.Arg1916=) |
single nucleotide variant |
not provided [RCV000945209]|not specified [RCV000606564] |
Chr10:71785666 [GRCh38] Chr10:73545423 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4984C>T (p.Leu1662=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000364252]|CDH23-Related Disorders [RCV000314121]|Usher syndrome type 1D [RCV000405794]|not provided [RCV001427255] |
Chr10:71777818 [GRCh38] Chr10:73537575 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.*612G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000292021]|CDH23-Related Disorders [RCV000340709]|Usher syndrome type 1D [RCV000376702] |
Chr10:71815890 [GRCh38] Chr10:73575647 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.-197GAGCGGC[3] |
microsatellite |
CDH23-Related Disorders [RCV000359950]|Nonsyndromic Hearing Loss, Recessive [RCV000303720]|Retinitis pigmentosa-deafness syndrome [RCV000398578] |
Chr10:71397125..71397131 [GRCh38] Chr10:73156882..73156888 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.*439C>T |
single nucleotide variant |
Atypical Gaucher Disease [RCV000312734]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106488]|Combined PSAP deficiency [RCV000314348]|Galactosylceramide beta-galactosidase deficiency [RCV000403296]|Metachromatic leukodystrophy [RCV000352338]|Usher syndrome type 1D [RCV001106487] |
Chr10:71815717 [GRCh38] Chr10:73575474 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.-276G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000394213]|CDH23-Related Disorders [RCV000292751]|Usher syndrome type 1D [RCV000350052] |
Chr10:71397048 [GRCh38] Chr10:73156805 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.-45AGGCG[2] |
microsatellite |
Nonsyndromic Hearing Loss, Recessive [RCV000389163]|Retinitis pigmentosa-deafness syndrome [RCV000332212]|not provided [RCV001683211]|not specified [RCV000455240] |
Chr10:71397277..71397281 [GRCh38] Chr10:73157034..73157038 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.*117dup |
duplication |
CDH23-Related Disorders [RCV000293948]|Nonsyndromic Hearing Loss, Recessive [RCV000375570]|Retinitis pigmentosa-deafness syndrome [RCV000330245] |
Chr10:71815393..71815394 [GRCh38] Chr10:73575150..73575151 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4913A>C (p.His1638Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000349285]|Usher syndrome type 1D [RCV000294326] |
Chr10:71777747 [GRCh38] Chr10:73537504 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6682del (p.Glu2228fs) |
deletion |
not provided [RCV000521398] |
Chr10:71793609 [GRCh38] Chr10:73553366 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2353A>C (p.Ile785Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000306600]|Usher syndrome type 1D [RCV000361267] |
Chr10:71695481 [GRCh38] Chr10:73455238 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4005C>G (p.Val1335=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000346648]|CDH23-Related Disorders [RCV000402686]|Usher syndrome type 1D [RCV000307044]|not provided [RCV002059557] |
Chr10:71732276 [GRCh38] Chr10:73492033 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.1350+5G>A |
single nucleotide variant |
Atypical Gaucher Disease [RCV000313723]|Combined PSAP deficiency [RCV000370757]|Galactosylceramide beta-galactosidase deficiency [RCV000405067]|Gaucher disease due to saposin C deficiency [RCV001103806]|Krabbe disease due to saposin A deficiency [RCV001103807]|Metachromatic leukodystrophy [RCV000391848]|Nonsyndromic Hearing Loss, Recessive [RCV000304444]|Retinitis pigmentosa-deafness syndrome [RCV000361450]|Sphingolipid activator protein 1 deficiency [RCV001103808]|not provided [RCV000676140]|not specified [RCV000241705] |
Chr10:71819460 [GRCh38] Chr10:73579217 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000319045]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106306]|CDH23-Related Disorders [RCV000324392]|Combined PSAP deficiency [RCV000266027]|Galactosylceramide beta-galactosidase deficiency [RCV000375963]|Metachromatic leukodystrophy [RCV000279075]|Nonsyndromic Hearing Loss, Recessive [RCV000260328]|Retinitis pigmentosa-deafness syndrome [RCV000378954]|Usher syndrome type 1 [RCV001272666]|Usher syndrome type 1D [RCV001106305]|not provided [RCV000898457]|not specified [RCV000603434] |
Chr10:71815155 [GRCh38] Chr10:73574912 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.*80G>A |
single nucleotide variant |
Atypical Gaucher Disease [RCV000260479]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105270]|Combined PSAP deficiency [RCV000332344]|Galactosylceramide beta-galactosidase deficiency [RCV000389276]|Metachromatic leukodystrophy [RCV000292479]|Usher syndrome type 1D [RCV001105271] |
Chr10:71815358 [GRCh38] Chr10:73575115 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.*68G>C |
single nucleotide variant |
Atypical Gaucher Disease [RCV000358885]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105267]|CDH23-Related Disorders [RCV000353011]|Combined PSAP deficiency [RCV000319096]|Galactosylceramide beta-galactosidase deficiency [RCV000261585]|Metachromatic leukodystrophy [RCV000353004]|Nonsyndromic Hearing Loss, Recessive [RCV000298093]|Retinitis pigmentosa-deafness syndrome [RCV000404597]|Usher syndrome type 1D [RCV001105266] |
Chr10:71815346 [GRCh38] Chr10:73575103 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.*510G>A |
single nucleotide variant |
Atypical Gaucher Disease [RCV000320461]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108679]|Combined PSAP deficiency [RCV000377475]|Galactosylceramide beta-galactosidase deficiency [RCV000261813]|Metachromatic leukodystrophy [RCV000267207]|Nonsyndromic Hearing Loss, Recessive [RCV000274238]|Retinitis pigmentosa-deafness syndrome [RCV000320011]|Usher syndrome type 1D [RCV001108678]|not provided [RCV001683212] |
Chr10:71815788 [GRCh38] Chr10:73575545 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_002778.4(PSAP):c.*891G>A |
single nucleotide variant |
Combined PSAP deficiency [RCV000356626]|Gaucher disease due to saposin C deficiency [RCV000261832]|Krabbe disease due to saposin A deficiency [RCV000405012]|Nonsyndromic Hearing Loss, Recessive [RCV000291291]|Retinitis pigmentosa-deafness syndrome [RCV000344085]|Sphingolipid activator protein 1 deficiency [RCV000311054]|not provided [RCV001689996] |
Chr10:71816550 [GRCh38] Chr10:73576307 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000298268]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105177]|CDH23-Related Disorders [RCV000313005]|Combined PSAP deficiency [RCV000404504]|Galactosylceramide beta-galactosidase deficiency [RCV000406507]|Inborn genetic diseases [RCV003165815]|Metachromatic leukodystrophy [RCV000350786]|Nonsyndromic Hearing Loss, Recessive [RCV000367632]|Retinitis pigmentosa-deafness syndrome [RCV000263857]|Usher syndrome type 1 [RCV001833437]|Usher syndrome type 1D [RCV001105176]|not provided [RCV002051835]|not specified [RCV000612885] |
Chr10:71815073 [GRCh38] Chr10:73574830 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.-353C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000381621]|Usher syndrome type 1D [RCV000324704] |
Chr10:71396971 [GRCh38] Chr10:73156728 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.*361C>A |
single nucleotide variant |
Atypical Gaucher Disease [RCV000271219]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001103426]|Combined PSAP deficiency [RCV000269900]|Galactosylceramide beta-galactosidase deficiency [RCV000328475]|Metachromatic leukodystrophy [RCV000380695]|Nonsyndromic Hearing Loss, Recessive [RCV000402848]|Retinitis pigmentosa-deafness syndrome [RCV000365801]|Usher syndrome type 1D [RCV001103427]|not provided [RCV001848072] |
Chr10:71815639 [GRCh38] Chr10:73575396 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.*478G>C |
single nucleotide variant |
Atypical Gaucher Disease [RCV000365100]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106490]|Combined PSAP deficiency [RCV000307212]|Galactosylceramide beta-galactosidase deficiency [RCV000273164]|Metachromatic leukodystrophy [RCV000364174]|Usher syndrome type 1D [RCV001106489] |
Chr10:71815756 [GRCh38] Chr10:73575513 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9739-12G>A |
single nucleotide variant |
Atypical Gaucher Disease [RCV000368470]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001103258]|CDH23-Related Disorders [RCV000407660]|Combined PSAP deficiency [RCV000328937]|Galactosylceramide beta-galactosidase deficiency [RCV000273893]|Metachromatic leukodystrophy [RCV000383482]|Nonsyndromic Hearing Loss, Recessive [RCV000347081]|Retinitis pigmentosa-deafness syndrome [RCV000282753]|Usher syndrome type 1D [RCV001103257]|not provided [RCV001505966] |
Chr10:71814940 [GRCh38] Chr10:73574697 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3109G>A (p.Gly1037Ser) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Recessive [RCV000395387]|Retinitis pigmentosa-deafness syndrome [RCV000340457] |
Chr10:71709100 [GRCh38] Chr10:73468857 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.*349A>G |
single nucleotide variant |
Atypical Gaucher Disease [RCV000311190]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108610]|Combined PSAP deficiency [RCV000277087]|Galactosylceramide beta-galactosidase deficiency [RCV000369416]|Metachromatic leukodystrophy [RCV000368083]|Nonsyndromic Hearing Loss, Recessive [RCV000407454]|Retinitis pigmentosa-deafness syndrome [RCV000301787]|Usher syndrome type 1D [RCV001108611]|not provided [RCV001530530] |
Chr10:71815627 [GRCh38] Chr10:73575384 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.*430A>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103431]|CDH23-Related Disorders [RCV000277041]|Combined PSAP deficiency [RCV000283671]|Gaucher disease due to saposin C deficiency [RCV000380533]|Krabbe disease due to saposin A deficiency [RCV000322706]|Nonsyndromic Hearing Loss, Recessive [RCV000362197]|Retinitis pigmentosa-deafness syndrome [RCV000307445]|Sphingolipid activator protein 1 deficiency [RCV000340975]|Usher syndrome type 1D [RCV001103430] |
Chr10:71815708 [GRCh38] Chr10:73575465 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.*515C>A |
single nucleotide variant |
Atypical Gaucher Disease [RCV000279258]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108680]|Combined PSAP deficiency [RCV000350653]|Galactosylceramide beta-galactosidase deficiency [RCV000371463]|Metachromatic leukodystrophy [RCV000319279]|Nonsyndromic Hearing Loss, Recessive [RCV000280245]|Retinitis pigmentosa-deafness syndrome [RCV000374819]|Usher syndrome type 1D [RCV001108681] |
Chr10:71815793 [GRCh38] Chr10:73575550 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4282A>G (p.Ile1428Val) |
single nucleotide variant |
not specified [RCV000599770] |
Chr10:71738570 [GRCh38] Chr10:73498327 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8239del (p.Val2747fs) |
deletion |
Usher syndrome type 1D [RCV000625866] |
Chr10:71807337 [GRCh38] Chr10:73567094 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7551C>T (p.Ser2517=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000337327]|CDH23-Related Disorders [RCV000390573]|Usher syndrome type 1D [RCV000311746]|not provided [RCV002520620] |
Chr10:71802966 [GRCh38] Chr10:73562723 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.*141G>A |
single nucleotide variant |
Atypical Gaucher Disease [RCV000339517]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106402]|CDH23-Related Disorders [RCV000280807]|Combined PSAP deficiency [RCV000403587]|Galactosylceramide beta-galactosidase deficiency [RCV000286901]|Metachromatic leukodystrophy [RCV000407781]|Nonsyndromic Hearing Loss, Recessive [RCV000335794]|Retinitis pigmentosa-deafness syndrome [RCV000407452]|Usher syndrome type 1D [RCV001106401] |
Chr10:71815419 [GRCh38] Chr10:73575176 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000337406]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001103262]|CDH23-Related Disorders [RCV000403860]|Combined PSAP deficiency [RCV000282351]|Galactosylceramide beta-galactosidase deficiency [RCV000340738]|Metachromatic leukodystrophy [RCV000376807]|Nonsyndromic Hearing Loss, Recessive [RCV000307536]|Retinitis pigmentosa-deafness syndrome [RCV000352717]|Usher syndrome type 1D [RCV001103261]|not provided [RCV002520625] |
Chr10:71815012 [GRCh38] Chr10:73574769 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.*434G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105353]|Combined PSAP deficiency [RCV000374590]|Gaucher disease due to saposin C deficiency [RCV000404105]|Krabbe disease due to saposin A deficiency [RCV000335403]|Nonsyndromic Hearing Loss, Recessive [RCV000332915]|Retinitis pigmentosa-deafness syndrome [RCV000368897]|Sphingolipid activator protein 1 deficiency [RCV000282687]|Usher syndrome type 1D [RCV001105354] |
Chr10:71815712 [GRCh38] Chr10:73575469 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.*588del |
deletion |
Atypical Gaucher Disease [RCV000407274]|CDH23-Related Disorders [RCV000285698]|Combined PSAP deficiency [RCV000292556]|Galactosylceramide beta-galactosidase deficiency [RCV000388913]|Metachromatic leukodystrophy [RCV000349779]|Nonsyndromic Hearing Loss, Recessive [RCV000316739]|Retinitis pigmentosa-deafness syndrome [RCV000380623] |
Chr10:71815864 [GRCh38] Chr10:73575621 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9176del (p.Pro3059fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003471975]|Rare genetic deafness [RCV000604670]|not provided [RCV001855250] |
Chr10:71811412 [GRCh38] Chr10:73571169 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.9070G>A (p.Val3024Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001829728]|not provided [RCV002528780]|not specified [RCV000600062] |
Chr10:71810562 [GRCh38] Chr10:73570319 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.-346G>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000384786]|CDH23-Related Disorders [RCV000327962]|Usher syndrome type 1D [RCV000289326] |
Chr10:71396978 [GRCh38] Chr10:73156735 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.-197GAGCGGC[5] |
microsatellite |
CDH23-Related Disorders [RCV000300068]|Nonsyndromic Hearing Loss, Recessive [RCV000357293]|Retinitis pigmentosa-deafness syndrome [RCV000394220]|not provided [RCV001731576] |
Chr10:71397124..71397125 [GRCh38] Chr10:73156881..73156882 [GRCh37] Chr10:10q22.1 |
benign|uncertain significance |
NM_022124.6(CDH23):c.4795T>C (p.Phe1599Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000327073]|Usher syndrome type 1D [RCV000379297] |
Chr10:71741871 [GRCh38] Chr10:73501628 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1351-14A>G |
single nucleotide variant |
Atypical Gaucher Disease [RCV000291365]|CDH23-Related Disorders [RCV000406452]|Combined PSAP deficiency [RCV000343946]|Galactosylceramide beta-galactosidase deficiency [RCV000400368]|Gaucher disease due to saposin C deficiency [RCV001103803]|Krabbe disease due to saposin A deficiency [RCV001103805]|Metachromatic leukodystrophy [RCV000340431]|Sphingolipid activator protein 1 deficiency [RCV001103804]|not provided [RCV000676139]|not specified [RCV000080034] |
Chr10:71819125 [GRCh38] Chr10:73578882 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.*204A>G |
single nucleotide variant |
Atypical Gaucher Disease [RCV000390678]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108606]|Combined PSAP deficiency [RCV000299894]|Galactosylceramide beta-galactosidase deficiency [RCV000338493]|Metachromatic leukodystrophy [RCV000298356]|Nonsyndromic Hearing Loss, Recessive [RCV000341473]|Retinitis pigmentosa-deafness syndrome [RCV000286621]|Usher syndrome type 1D [RCV001108607]|not provided [RCV001672430] |
Chr10:71815482 [GRCh38] Chr10:73575239 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000290496]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108526]|Combined PSAP deficiency [RCV000347839]|Galactosylceramide beta-galactosidase deficiency [RCV000402629]|Metachromatic leukodystrophy [RCV000405901]|Usher syndrome type 1 [RCV001271959]|Usher syndrome type 1D [RCV001108525]|not provided [RCV001053104]|not specified [RCV000613082] |
Chr10:71815196 [GRCh38] Chr10:73574953 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.*104G>C |
single nucleotide variant |
Atypical Gaucher Disease [RCV000344023]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106399]|Combined PSAP deficiency [RCV000331077]|Galactosylceramide beta-galactosidase deficiency [RCV000383526]|Metachromatic leukodystrophy [RCV000291512]|Nonsyndromic Hearing Loss, Recessive [RCV000325433]|Retinitis pigmentosa-deafness syndrome [RCV000388243]|Usher syndrome type 1D [RCV001106400] |
Chr10:71815382 [GRCh38] Chr10:73575139 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.1611C>T (p.Asp537=) |
single nucleotide variant |
not provided [RCV001501962]|not specified [RCV000600272] |
Chr10:71677552 [GRCh38] Chr10:73437309 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.836A>G (p.Asn279Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000381945]|CDH23-Related Disorders [RCV000324991]|Usher syndrome type 1D [RCV000289895] |
Chr10:71615507 [GRCh38] Chr10:73375264 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2310C>T (p.Asp770=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000394288]|CDH23-Related Disorders [RCV000334817]|Usher syndrome type 1D [RCV000313765]|not provided [RCV001432529] |
Chr10:71695438 [GRCh38] Chr10:73455195 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000308492]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001103168]|CDH23-Related Disorders [RCV000407582]|Combined PSAP deficiency [RCV000363140]|Galactosylceramide beta-galactosidase deficiency [RCV000396018]|Metachromatic leukodystrophy [RCV000403032]|Nonsyndromic Hearing Loss, Recessive [RCV000299495]|Retinitis pigmentosa-deafness syndrome [RCV000338320]|Usher syndrome type 1D [RCV001103169]|not provided [RCV002520624] |
Chr10:71811725 [GRCh38] Chr10:73571482 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3924C>T (p.Asp1308=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835860]|not provided [RCV000592156] |
Chr10:71732195 [GRCh38] Chr10:73491952 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002283493]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002483589]|Pituitary adenoma 5, multiple types [RCV003471953]|not provided [RCV000592322]|not specified [RCV002232558] |
Chr10:71799201 [GRCh38] Chr10:73558958 [GRCh37] Chr10:10q22.1 |
likely pathogenic|likely benign|uncertain significance |
NM_022124.6(CDH23):c.7180G>C (p.Asp2394His) |
single nucleotide variant |
not provided [RCV000592402] |
Chr10:71799236 [GRCh38] Chr10:73558993 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6547G>A (p.Val2183Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104586]|Usher syndrome type 1 [RCV001829635]|Usher syndrome type 1D [RCV001104585]|not provided [RCV000596088] |
Chr10:71793475 [GRCh38] Chr10:73553232 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2431G>A (p.Gly811Ser) |
single nucleotide variant |
not provided [RCV000592478] |
Chr10:71702055 [GRCh38] Chr10:73461812 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1608G>A (p.Arg536=) |
single nucleotide variant |
not provided [RCV000592556] |
Chr10:71677549 [GRCh38] Chr10:73437306 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5518C>T (p.Arg1840Trp) |
single nucleotide variant |
Usher syndrome type 1 [RCV001834891]|not provided [RCV000592800] |
Chr10:71784906 [GRCh38] Chr10:73544663 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.330C>T (p.His110=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835867]|not provided [RCV000592942] |
Chr10:71510995 [GRCh38] Chr10:73270752 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002483557]|not provided [RCV000585097] |
Chr10:71741701 [GRCh38] Chr10:73501458 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2984del (p.Phe995fs) |
deletion |
not provided [RCV000599072] |
Chr10:71706926 [GRCh38] Chr10:73466683 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.766C>T (p.Arg256Cys) |
single nucleotide variant |
not provided [RCV000585359] |
Chr10:71577926 [GRCh38] Chr10:73337683 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3575_3576delinsGT (p.Val1192Gly) |
indel |
not provided [RCV000599331] |
Chr10:71725516..71725517 [GRCh38] Chr10:73485273..73485274 [GRCh37] Chr10:10q22.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9198+9C>T |
single nucleotide variant |
not provided [RCV001412717] |
Chr10:71811444 [GRCh38] Chr10:73571201 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4879G>A (p.Glu1627Lys) |
single nucleotide variant |
not specified [RCV000605786] |
Chr10:71777713 [GRCh38] Chr10:73537470 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2714C>T (p.Ala905Val) |
single nucleotide variant |
not provided [RCV000592024] |
Chr10:71702675 [GRCh38] Chr10:73462432 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3419G>A (p.Arg1140His) |
single nucleotide variant |
Inborn genetic diseases [RCV003197297] |
Chr10:71724094 [GRCh38] Chr10:73483851 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1583G>A (p.Arg528His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835943]|not provided [RCV000731198]|not specified [RCV000825299] |
Chr10:71677524 [GRCh38] Chr10:73437281 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.586G>C (p.Glu196Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001825470]|not provided [RCV000732185] |
Chr10:71566898 [GRCh38] Chr10:73326655 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6250C>T (p.Pro2084Ser) |
single nucleotide variant |
not provided [RCV000728511] |
Chr10:71791332 [GRCh38] Chr10:73551089 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3916G>C (p.Glu1306Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002535204]|not provided [RCV000731338] |
Chr10:71732187 [GRCh38] Chr10:73491944 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6446G>A (p.Arg2149Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104582]|Usher syndrome type 1D [RCV001104581]|not provided [RCV000733210] |
Chr10:71793374 [GRCh38] Chr10:73553131 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter) |
single nucleotide variant |
Usher syndrome type 1D [RCV000735678] |
Chr10:71790364 [GRCh38] Chr10:73550121 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3927G>A (p.Glu1309=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273539]|not provided [RCV000732329] |
Chr10:71732198 [GRCh38] Chr10:73491955 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3221-2A>G |
single nucleotide variant |
not provided [RCV000731523] |
Chr10:71712663 [GRCh38] Chr10:73472420 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3477G>C (p.Leu1159=) |
single nucleotide variant |
not provided [RCV000734017] |
Chr10:71725418 [GRCh38] Chr10:73485175 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1504G>A (p.Asp502Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280198]|not provided [RCV000594608] |
Chr10:71675166 [GRCh38] Chr10:73434923 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5808C>T (p.Arg1936=) |
single nucleotide variant |
not provided [RCV001412301] |
Chr10:71785726 [GRCh38] Chr10:73545483 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9739-203_9739-201del |
microsatellite |
not provided [RCV001572238] |
Chr10:71814746..71814748 [GRCh38] Chr10:73574503..73574505 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.870C>T (p.Ser290=) |
single nucleotide variant |
not provided [RCV000595104] |
Chr10:71615541 [GRCh38] Chr10:73375298 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000454126]|not provided [RCV001203945] |
Chr10:71617296 [GRCh38] Chr10:73377053 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000454137]|Pituitary adenoma 5, multiple types [RCV003476019]|not provided [RCV002522743] |
Chr10:71785667 [GRCh38] Chr10:73545424 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000454163] |
Chr10:71807302 [GRCh38] Chr10:73567059 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000454185] |
Chr10:71677616 [GRCh38] Chr10:73437373 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.683A>T (p.Asp228Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000454219] |
Chr10:71570848 [GRCh38] Chr10:73330605 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000454253] |
Chr10:71617295 [GRCh38] Chr10:73377052 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.3181G>A (p.Glu1061Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000454274] |
Chr10:71709172 [GRCh38] Chr10:73468929 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1987-1G>A |
single nucleotide variant |
Usher syndrome type 1D [RCV000449554] |
Chr10:71687646 [GRCh38] Chr10:73447403 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7465C>G (p.Arg2489Gly) |
single nucleotide variant |
not provided [RCV000417539] |
Chr10:71800738 [GRCh38] Chr10:73560495 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4730G>A (p.Arg1577His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001834697]|not provided [RCV000522761]|not specified [RCV001195488] |
Chr10:71741806 [GRCh38] Chr10:73501563 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2734-17C>T |
single nucleotide variant |
not provided [RCV001520243]|not specified [RCV000418171] |
Chr10:71704894 [GRCh38] Chr10:73464651 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.6453C>A (p.Thr2151=) |
single nucleotide variant |
not provided [RCV000909663] |
Chr10:71793381 [GRCh38] Chr10:73553138 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7054+1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003476017]|not provided [RCV000418075] |
Chr10:71798579 [GRCh38] Chr10:73558336 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7660+1G>T |
single nucleotide variant |
Usher syndrome type 1 [RCV001828406]|not provided [RCV000421709] |
Chr10:71803076 [GRCh38] Chr10:73562833 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.288+1G>C |
single nucleotide variant |
not provided [RCV000438952] |
Chr10:71510225 [GRCh38] Chr10:73269982 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.478G>A (p.Asp160Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000416554]|Nonsyndromic genetic hearing loss [RCV003114533]|Usher syndrome type 1 [RCV001835791]|not provided [RCV001325987] |
Chr10:71566790 [GRCh38] Chr10:73326547 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 |
copy number gain |
See cases [RCV000448750] |
Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_022124.6(CDH23):c.1428dup (p.Thr477fs) |
duplication |
Inborn genetic diseases [RCV000623791]|Pituitary adenoma 5, multiple types [RCV003476174]|Usher syndrome type 1D [RCV001805102]|not provided [RCV000481007] |
Chr10:71646592..71646593 [GRCh38] Chr10:73406349..73406350 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.268C>T (p.Arg90Trp) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828500]|not provided [RCV000479301] |
Chr10:71510204 [GRCh38] Chr10:73269961 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.617A>C (p.Asn206Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828506]|not provided [RCV000479707] |
Chr10:71566929 [GRCh38] Chr10:73326686 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000764920]|Usher syndrome type 1 [RCV001274896]|not provided [RCV000483578] |
Chr10:71790309 [GRCh38] Chr10:73550066 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8248G>A (p.Val2750Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000477830]|not provided [RCV002525746] |
Chr10:71807346 [GRCh38] Chr10:73567103 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.494G>T (p.Gly165Val) |
single nucleotide variant |
not provided [RCV000483432] |
Chr10:71566806 [GRCh38] Chr10:73326563 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6713-1058GAG[7] |
microsatellite |
not specified [RCV000484894] |
Chr10:71796046..71796048 [GRCh38] Chr10:73555803..73555805 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.772A>G (p.Ile258Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002526572]|Usher syndrome type 1 [RCV001275416]|not provided [RCV000481002] |
Chr10:71577932 [GRCh38] Chr10:73337689 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3067G>A (p.Asp1023Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001271859]|not provided [RCV000481446]|not specified [RCV000825302] |
Chr10:71707010 [GRCh38] Chr10:73466767 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3250G>T (p.Gly1084Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001834562]|not provided [RCV000485994] |
Chr10:71712694 [GRCh38] Chr10:73472451 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8770_8771insTGGCTGTA (p.Ser2924fs) |
insertion |
not provided [RCV000478292] |
Chr10:71809866..71809867 [GRCh38] Chr10:73569623..73569624 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn) |
single nucleotide variant |
Nonsyndromic genetic hearing loss [RCV001089682]|Usher syndrome type 1D [RCV001839003]|not provided [RCV000485626]|not specified [RCV000507978] |
Chr10:71806186 [GRCh38] Chr10:73565943 [GRCh37] Chr10:10q22.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9775C>T (p.His3259Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003278833]|Usher syndrome type 1 [RCV001828505]|not provided [RCV000482981] |
Chr10:71814988 [GRCh38] Chr10:73574745 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7225-1G>A |
single nucleotide variant |
Usher syndrome type 1D [RCV001839004]|not provided [RCV000480087] |
Chr10:71799491 [GRCh38] Chr10:73559248 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4937G>A (p.Gly1646Asp) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272902]|not provided [RCV000478693] |
Chr10:71777771 [GRCh38] Chr10:73537528 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.572G>A (p.Arg191Gln) |
single nucleotide variant |
not provided [RCV002527216]|not specified [RCV000501409] |
Chr10:71566884 [GRCh38] Chr10:73326641 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV000504587]|Usher syndrome type 1 [RCV001271955]|not provided [RCV001038259] |
Chr10:71815099 [GRCh38] Chr10:73574856 [GRCh37] Chr10:10q22.1 |
pathogenic|risk factor|uncertain significance |
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV000504588]|not specified [RCV003317244] |
Chr10:71734271 [GRCh38] Chr10:73494028 [GRCh37] Chr10:10q22.1 |
pathogenic|uncertain significance |
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV000504590]|not provided [RCV002524399] |
Chr10:71793272 [GRCh38] Chr10:73553029 [GRCh37] Chr10:10q22.1 |
pathogenic|uncertain significance |
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV000504591] |
Chr10:71812511 [GRCh38] Chr10:73572268 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8054C>T (p.Ala2685Val) |
single nucleotide variant |
Usher syndrome type 1 [RCV001834596]|not provided [RCV000493616] |
Chr10:71805987 [GRCh38] Chr10:73565744 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.5(CDH23):c.-47_-43delCGAGG |
deletion |
not specified [RCV000493656] |
Chr10:71397277..71397281 [GRCh38] Chr10:73157034..73157038 [GRCh37] Chr10:10q22.1 |
benign |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) |
copy number gain |
See cases [RCV000511389] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 |
copy number gain |
See cases [RCV000510861] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000515743]|Nonsyndromic genetic hearing loss [RCV003239292]|Pituitary adenoma 5, multiple types [RCV003476213]|not provided [RCV002251483] |
Chr10:71791167 [GRCh38] Chr10:73550924 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.8222C>A (p.Ser2741Ter) |
single nucleotide variant |
not provided [RCV000578603] |
Chr10:71807320 [GRCh38] Chr10:73567077 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3684C>G (p.Val1228=) |
single nucleotide variant |
not provided [RCV000596882] |
Chr10:71730573 [GRCh38] Chr10:73490330 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2176+3G>T |
single nucleotide variant |
not specified [RCV000600184] |
Chr10:71690587 [GRCh38] Chr10:73450344 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9248T>C (p.Phe3083Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003293084] |
Chr10:71811560 [GRCh38] Chr10:73571317 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6712+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000515725] |
Chr10:71793641 [GRCh38] Chr10:73553398 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.6667del (p.Leu2223fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000515683] |
Chr10:71793594 [GRCh38] Chr10:73553351 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7671T>C (p.His2557=) |
single nucleotide variant |
not provided [RCV002062132]|not specified [RCV000603187] |
Chr10:71803219 [GRCh38] Chr10:73562976 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1449+43C>T |
single nucleotide variant |
not specified [RCV000601728] |
Chr10:71646660 [GRCh38] Chr10:73406417 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002476347]|Pituitary adenoma 5, multiple types [RCV003471972]|Usher syndrome type 1 [RCV001829692]|not provided [RCV001755984]|not specified [RCV000601446] |
Chr10:71800739 [GRCh38] Chr10:73560496 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2836G>A (p.Val946Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001834956]|not provided [RCV002531681]|not specified [RCV000602137] |
Chr10:71705013 [GRCh38] Chr10:73464770 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6664C>T (p.Arg2222Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275579]|not provided [RCV001241141]|not specified [RCV000602312] |
Chr10:71793592 [GRCh38] Chr10:73553349 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4902C>T (p.Phe1634=) |
single nucleotide variant |
not provided [RCV001495760]|not specified [RCV000602338] |
Chr10:71777736 [GRCh38] Chr10:73537493 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7379T>G (p.Leu2460Arg) |
single nucleotide variant |
not provided [RCV000523368] |
Chr10:71800652 [GRCh38] Chr10:73560409 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] |
Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559178]|Inborn genetic diseases [RCV002532715]|Usher syndrome type 1 [RCV001834918]|Usher syndrome type 1D [RCV001559179]|not provided [RCV001244820]|not specified [RCV000614964] |
Chr10:71705103 [GRCh38] Chr10:73464860 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) |
single nucleotide variant |
Usher syndrome type 1D [RCV000625803]|not provided [RCV002533145] |
Chr10:71807585 [GRCh38] Chr10:73567342 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.1859T>C (p.Val620Ala) |
single nucleotide variant |
Usher syndrome type 1 [RCV001834930]|not specified [RCV000609610] |
Chr10:71682445 [GRCh38] Chr10:73442202 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5214C>T (p.Asn1738=) |
single nucleotide variant |
not provided [RCV001479617]|not specified [RCV000615193] |
Chr10:71779293 [GRCh38] Chr10:73539050 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7055-15G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001102760]|Usher syndrome type 1D [RCV001102761]|not specified [RCV000615673] |
Chr10:71799096 [GRCh38] Chr10:73558853 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624916]|Usher syndrome type 1 [RCV001834974]|Usher syndrome type 1D [RCV001805224]|not provided [RCV001386697] |
Chr10:71712685 [GRCh38] Chr10:73472442 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.1134+53C>A |
single nucleotide variant |
not specified [RCV000609800] |
Chr10:71617446 [GRCh38] Chr10:73377203 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002498890]|Usher syndrome type 1 [RCV001834922]|not provided [RCV001860242]|not specified [RCV000609825] |
Chr10:71799233 [GRCh38] Chr10:73558990 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1581G>T (p.Gln527His) |
single nucleotide variant |
Inborn genetic diseases [RCV003362855]|Usher syndrome type 1 [RCV001829701]|not provided [RCV001243249]|not specified [RCV000612548] |
Chr10:71677522 [GRCh38] Chr10:73437279 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3597G>T (p.Glu1199Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003286993] |
Chr10:71730486 [GRCh38] Chr10:73490243 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6636C>T (p.Val2212=) |
single nucleotide variant |
not provided [RCV000934263]|not specified [RCV000609969] |
Chr10:71793564 [GRCh38] Chr10:73553321 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2096A>T (p.Asp699Val) |
single nucleotide variant |
not specified [RCV000610013] |
Chr10:71690504 [GRCh38] Chr10:73450261 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5632G>A (p.Ala1878Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001829730]|not provided [RCV001045655]|not specified [RCV000606077] |
Chr10:71785020 [GRCh38] Chr10:73544777 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6253+4A>G |
single nucleotide variant |
not provided [RCV001297391]|not specified [RCV000601844] |
Chr10:71791339 [GRCh38] Chr10:73551096 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8040C>T (p.Asp2680=) |
single nucleotide variant |
not provided [RCV001396761]|not specified [RCV000610168] |
Chr10:71805973 [GRCh38] Chr10:73565730 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3408T>A (p.Arg1136=) |
single nucleotide variant |
not provided [RCV001442648]|not specified [RCV000610175] |
Chr10:71724083 [GRCh38] Chr10:73483840 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4287C>T (p.Pro1429=) |
single nucleotide variant |
not provided [RCV000844488]|not specified [RCV000607391] |
Chr10:71738575 [GRCh38] Chr10:73498332 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.8710G>A (p.Val2904Ile) |
single nucleotide variant |
Usher syndrome type 1 [RCV001829710]|not specified [RCV000610301] |
Chr10:71807995 [GRCh38] Chr10:73567752 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6713-1058GAG[9] |
microsatellite |
not specified [RCV000610436] |
Chr10:71796045..71796046 [GRCh38] Chr10:73555802..73555803 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4359G>C (p.Gln1453His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001834925]|not provided [RCV002531145]|not specified [RCV000613442] |
Chr10:71738647 [GRCh38] Chr10:73498404 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7661-14G>C |
single nucleotide variant |
not specified [RCV000613465] |
Chr10:71803195 [GRCh38] Chr10:73562952 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559305]|Usher syndrome type 1 [RCV001834953]|Usher syndrome type 1D [RCV001559306]|not provided [RCV002528776]|not specified [RCV000616635] |
Chr10:71702175 [GRCh38] Chr10:73461932 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.832+8A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002506456]|not provided [RCV000883972] |
Chr10:71578000 [GRCh38] Chr10:73337757 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.10027G>A (p.Val3343Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001271960]|not specified [RCV000610868] |
Chr10:71815240 [GRCh38] Chr10:73574997 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4104+44C>T |
single nucleotide variant |
not specified [RCV000610905] |
Chr10:71732419 [GRCh38] Chr10:73492176 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1373C>T (p.Pro458Leu) |
single nucleotide variant |
not specified [RCV000610968] |
Chr10:71646541 [GRCh38] Chr10:73406298 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8401T>G (p.Phe2801Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001102965]|Usher syndrome type 1D [RCV001102966]|not provided [RCV000903146]|not specified [RCV000606599] |
Chr10:71807608 [GRCh38] Chr10:73567365 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6377G>A (p.Arg2126His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275573]|not provided [RCV001248681]|not specified [RCV000611377] |
Chr10:71793305 [GRCh38] Chr10:73553062 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6829+3A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002491237]|Usher syndrome type 1 [RCV001834932]|not provided [RCV001045178]|not specified [RCV000606653] |
Chr10:71797223 [GRCh38] Chr10:73556980 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2691C>T (p.Ala897=) |
single nucleotide variant |
not provided [RCV001460155]|not specified [RCV000614381] |
Chr10:71702652 [GRCh38] Chr10:73462409 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9381-123C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002498891]|not specified [RCV000609026] |
Chr10:71812357 [GRCh38] Chr10:73572114 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2870G>A (p.Arg957His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002491233]|Usher syndrome type 1 [RCV001829703]|not provided [RCV001342564]|not specified [RCV000611860] |
Chr10:71705047 [GRCh38] Chr10:73464804 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1450-10G>A |
single nucleotide variant |
Usher syndrome type 1D [RCV000985224]|not provided [RCV000928707]|not specified [RCV000611881] |
Chr10:71675102 [GRCh38] Chr10:73434859 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4392G>A (p.Ala1464=) |
single nucleotide variant |
not provided [RCV001294645]|not specified [RCV000614716] |
Chr10:71739676 [GRCh38] Chr10:73499433 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2954-5del |
deletion |
not provided [RCV001513986]|not specified [RCV000609301] |
Chr10:71706889 [GRCh38] Chr10:73466646 [GRCh37] Chr10:10q22.1 |
benign|uncertain significance |
NM_022124.6(CDH23):c.1695C>G (p.Ala565=) |
single nucleotide variant |
not provided [RCV001854131]|not specified [RCV000604967] |
Chr10:71677636 [GRCh38] Chr10:73437393 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9129del (p.Asn3044fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000515678] |
Chr10:71811365 [GRCh38] Chr10:73571122 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7806C>T (p.Ile2602=) |
single nucleotide variant |
not provided [RCV002062150]|not specified [RCV000604119] |
Chr10:71803354 [GRCh38] Chr10:73563111 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002491343]|CDH23-related condition [RCV003392460]|Usher syndrome type 1D [RCV000625766]|not provided [RCV002533143] |
Chr10:71785041 [GRCh38] Chr10:73544798 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.7312G>A (p.Glu2438Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000515741] |
Chr10:71799579 [GRCh38] Chr10:73559336 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2289+1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003471970]|Rare genetic deafness [RCV000844621]|Usher syndrome type 1 [RCV001271848]|Usher syndrome type 1D [RCV000611540]|not provided [RCV001226785] |
Chr10:71694260 [GRCh38] Chr10:73454017 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000515744]|Hearing loss, autosomal recessive [RCV001291208]|Pituitary adenoma 5, multiple types [RCV003476209]|Sensorineural hearing loss disorder [RCV001004777]|not provided [RCV000512765] |
Chr10:71705043 [GRCh38] Chr10:73464800 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002481649]|Beta-D-mannosidosis [RCV001375352]|Usher syndrome type 1 [RCV001829457]|not provided [RCV000512874] |
Chr10:71785080 [GRCh38] Chr10:73544837 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3839T>A (p.Met1280Lys) |
single nucleotide variant |
not provided [RCV000595308] |
Chr10:71732110 [GRCh38] Chr10:73491867 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6253+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002283487]|not provided [RCV000513159] |
Chr10:71791336 [GRCh38] Chr10:73551093 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002490863]|Usher syndrome type 1 [RCV001829456]|not provided [RCV000513464] |
Chr10:71779442 [GRCh38] Chr10:73539199 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1550T>G (p.Leu517Arg) |
single nucleotide variant |
not provided [RCV000513486] |
Chr10:71677491 [GRCh38] Chr10:73437248 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106302]|Hearing impairment [RCV001375333]|Usher syndrome type 1 [RCV001835062]|Usher syndrome type 1D [RCV001106301]|not provided [RCV000658120] |
Chr10:71815141 [GRCh38] Chr10:73574898 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9380+3G>T |
single nucleotide variant |
not provided [RCV000658567] |
Chr10:71812018 [GRCh38] Chr10:73571775 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3428dup (p.His1143fs) |
duplication |
Usher syndrome type 1D [RCV000678532] |
Chr10:71724102..71724103 [GRCh38] Chr10:73483859..73483860 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter) |
duplication |
Usher syndrome type 1D [RCV000678533] |
Chr10:71793212..71793213 [GRCh38] Chr10:73552969..73552970 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4210-2A>G |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003472256]|Usher syndrome type 1D [RCV000710062]|not provided [RCV003141715] |
Chr10:71738496 [GRCh38] Chr10:73498253 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.8351_8352insCGAT (p.Leu2785fs) |
insertion |
Deafness [RCV000679812]|Hearing loss, autosomal recessive [RCV001291222] |
Chr10:71807558..71807559 [GRCh38] Chr10:73567315..73567316 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro) |
single nucleotide variant |
Deafness [RCV000679813]|Hearing loss, autosomal recessive [RCV001291218]|not specified [RCV003317337] |
Chr10:71791284 [GRCh38] Chr10:73551041 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.3929C>T (p.Ala1310Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000678986] |
Chr10:71732200 [GRCh38] Chr10:73491957 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q22.1(chr10:73321268-73554051)x1 |
copy number loss |
not provided [RCV000683208] |
Chr10:73321268..73554051 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 |
copy number gain |
not provided [RCV000683289] |
Chr10:69040366..93194993 [GRCh37] Chr10:10q21.3-23.32 |
pathogenic |
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001810087]|Ear malformation [RCV001814341]|Pituitary adenoma 5, multiple types [RCV003474004]|not provided [RCV002568238] |
Chr10:71740895 [GRCh38] Chr10:73500652 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.945+1G>A |
single nucleotide variant |
Usher syndrome type 1D [RCV000710061]|not provided [RCV001060165] |
Chr10:71615617 [GRCh38] Chr10:73375374 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.5923+167C>T |
single nucleotide variant |
not provided [RCV001566757] |
Chr10:71789209 [GRCh38] Chr10:73548966 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8746A>T (p.Thr2916Ser) |
single nucleotide variant |
not provided [RCV002280396] |
Chr10:71809843 [GRCh38] Chr10:73569600 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2290-310G>A |
single nucleotide variant |
not provided [RCV001571132] |
Chr10:71695108 [GRCh38] Chr10:73454865 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7483-55G>A |
single nucleotide variant |
not provided [RCV001544678] |
Chr10:71802843 [GRCh38] Chr10:73562600 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2176+122T>C |
single nucleotide variant |
not provided [RCV001565015] |
Chr10:71690706 [GRCh38] Chr10:73450463 [GRCh37] Chr10:10q22.1 |
likely benign |
GRCh37/hg19 10q22.1(chr10:73129458-73162237)x1 |
copy number loss |
not provided [RCV000749674] |
Chr10:73129458..73162237 [GRCh37] Chr10:10q22.1 |
benign |
GRCh37/hg19 10q22.1(chr10:73141020-73157945)x1 |
copy number loss |
not provided [RCV000749675] |
Chr10:73141020..73157945 [GRCh37] Chr10:10q22.1 |
benign |
GRCh37/hg19 10q22.1(chr10:73154073-73157945)x1 |
copy number loss |
not provided [RCV000749676] |
Chr10:73154073..73157945 [GRCh37] Chr10:10q22.1 |
benign |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 |
copy number gain |
not provided [RCV000749464] |
Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 |
copy number gain |
not provided [RCV000749465] |
Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_022124.6(CDH23):c.3220+117A>G |
single nucleotide variant |
not provided [RCV001666843] |
Chr10:71709328 [GRCh38] Chr10:73469085 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.6254-10del |
deletion |
not provided [RCV000976729] |
Chr10:71793172 [GRCh38] Chr10:73552929 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5502+22G>A |
single nucleotide variant |
not provided [RCV001581713] |
Chr10:71784442 [GRCh38] Chr10:73544199 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6591G>T (p.Thr2197=) |
single nucleotide variant |
not provided [RCV000977070] |
Chr10:71793519 [GRCh38] Chr10:73553276 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3220+334G>A |
single nucleotide variant |
not provided [RCV001541809] |
Chr10:71709545 [GRCh38] Chr10:73469302 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.-5-126T>G |
single nucleotide variant |
not provided [RCV001648431] |
Chr10:71439701 [GRCh38] Chr10:73199458 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.9867G>A (p.Thr3289=) |
single nucleotide variant |
not provided [RCV000979513] |
Chr10:71815080 [GRCh38] Chr10:73574837 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4359+9C>A |
single nucleotide variant |
not provided [RCV000940789] |
Chr10:71738656 [GRCh38] Chr10:73498413 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-133T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533772]|Usher syndrome type 1D [RCV001533771]|not provided [RCV001725225] |
Chr10:71725239 [GRCh38] Chr10:73484996 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.3370-253C>T |
single nucleotide variant |
not provided [RCV001679170] |
Chr10:71723792 [GRCh38] Chr10:73483549 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.146-153C>A |
single nucleotide variant |
not provided [RCV001585092] |
Chr10:71509929 [GRCh38] Chr10:73269686 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4617+262G>A |
single nucleotide variant |
not provided [RCV001583632] |
Chr10:71741212 [GRCh38] Chr10:73500969 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7054+159A>T |
single nucleotide variant |
not provided [RCV001725264] |
Chr10:71798737 [GRCh38] Chr10:73558494 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1141-249A>G |
single nucleotide variant |
not provided [RCV001725265] |
Chr10:71645582 [GRCh38] Chr10:73405339 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.9739-238AC[12] |
microsatellite |
not provided [RCV001725276] |
Chr10:71814713..71814714 [GRCh38] Chr10:73574470..73574471 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.7661-8A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001102867]|Usher syndrome type 1 [RCV001276043]|Usher syndrome type 1D [RCV001102868]|not provided [RCV000978127] |
Chr10:71803201 [GRCh38] Chr10:73562958 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.1753-149G>A |
single nucleotide variant |
not provided [RCV001565682] |
Chr10:71679238 [GRCh38] Chr10:73438995 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9078-183A>G |
single nucleotide variant |
not provided [RCV001647771] |
Chr10:71811132 [GRCh38] Chr10:73570889 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.9587ACA[1] (p.Asn3197del) |
microsatellite |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001580653]|Usher syndrome type 1D [RCV001580652] |
Chr10:71812844..71812846 [GRCh38] Chr10:73572601..73572603 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1281C>T (p.Tyr427=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275924]|not provided [RCV000919547] |
Chr10:71645971 [GRCh38] Chr10:73405728 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9951T>A (p.Ala3317=) |
single nucleotide variant |
not provided [RCV000941617] |
Chr10:71815164 [GRCh38] Chr10:73574921 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.68-3C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001333129]|Usher syndrome type 1 [RCV001276796]|not provided [RCV000941635] |
Chr10:71446315 [GRCh38] Chr10:73206072 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.8178+315_8178+316del |
deletion |
not provided [RCV001566294] |
Chr10:71806580..71806581 [GRCh38] Chr10:73566337..73566338 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3342C>T (p.Asp1114=) |
single nucleotide variant |
not provided [RCV000978618] |
Chr10:71712786 [GRCh38] Chr10:73472543 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9738+198G>C |
single nucleotide variant |
not provided [RCV001547903] |
Chr10:71813546 [GRCh38] Chr10:73573303 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.759G>A (p.Thr253=) |
single nucleotide variant |
not provided [RCV000980808] |
Chr10:71577919 [GRCh38] Chr10:73337676 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1859-47T>G |
single nucleotide variant |
not provided [RCV001567828] |
Chr10:71682398 [GRCh38] Chr10:73442155 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2289+125G>A |
single nucleotide variant |
not provided [RCV000939925] |
Chr10:71694384 [GRCh38] Chr10:73454141 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.4209+126G>A |
single nucleotide variant |
not provided [RCV001547769] |
Chr10:71734784 [GRCh38] Chr10:73494541 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8061C>G (p.Tyr2687Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000761262] |
Chr10:71805994 [GRCh38] Chr10:73565751 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002507320]|Pituitary adenoma 5, multiple types [RCV003472275]|Rare genetic deafness [RCV000825513]|Usher syndrome type 1 [RCV001271858]|Usher syndrome type 1D [RCV002470968]|not provided [RCV000755910] |
Chr10:71706959 [GRCh38] Chr10:73466716 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000761609]|Hearing loss, autosomal recessive [RCV001291216]|Usher syndrome [RCV002265874]|not provided [RCV001869030] |
Chr10:71791165 [GRCh38] Chr10:73550922 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.1063G>A (p.Val355Met) |
single nucleotide variant |
not provided [RCV000761726] |
Chr10:71617322 [GRCh38] Chr10:73377079 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6449del (p.Gly2150fs) |
deletion |
Usher syndrome type 1 [RCV001199453]|not provided [RCV000761727] |
Chr10:71793374 [GRCh38] Chr10:73553131 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.9270C>G (p.Tyr3090Ter) |
single nucleotide variant |
not provided [RCV000761728] |
Chr10:71811582 [GRCh38] Chr10:73571339 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs) |
duplication |
Pituitary adenoma 5, multiple types [RCV003472285]|Usher syndrome type 1 [RCV001199649]|not provided [RCV000761729] |
Chr10:71811716..71811717 [GRCh38] Chr10:73571473..73571474 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.5026G>T (p.Ala1676Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001827332]|not provided [RCV001053008] |
Chr10:71777860 [GRCh38] Chr10:73537617 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2425G>T (p.Glu809Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001825507]|not provided [RCV000760395] |
Chr10:71702049 [GRCh38] Chr10:73461806 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003472282]|Retinal dystrophy [RCV001075279]|Usher syndrome type 1 [RCV001276921]|not provided [RCV000760396] |
Chr10:71809900 [GRCh38] Chr10:73569657 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3353del (p.Gly1118fs) |
deletion |
Usher syndrome type 1D [RCV001544524] |
Chr10:71712796 [GRCh38] Chr10:73472553 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1134+105C>T |
single nucleotide variant |
not provided [RCV001544624] |
Chr10:71617498 [GRCh38] Chr10:73377255 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3488C>G (p.Pro1163Arg) |
single nucleotide variant |
not provided [RCV000994439] |
Chr10:71725429 [GRCh38] Chr10:73485186 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5769G>A (p.Lys1923=) |
single nucleotide variant |
not provided [RCV000994440] |
Chr10:71785687 [GRCh38] Chr10:73545444 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4618-246A>T |
single nucleotide variant |
not provided [RCV001680130] |
Chr10:71741448 [GRCh38] Chr10:73501205 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1515-178C>T |
single nucleotide variant |
not provided [RCV001641401] |
Chr10:71677278 [GRCh38] Chr10:73437035 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.146-120C>T |
single nucleotide variant |
not provided [RCV001570014] |
Chr10:71509962 [GRCh38] Chr10:73269719 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6712+903A>T |
single nucleotide variant |
not provided [RCV003312171] |
Chr10:71794543 [GRCh38] Chr10:73554300 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7224+37C>T |
single nucleotide variant |
not provided [RCV001581217] |
Chr10:71799317 [GRCh38] Chr10:73559074 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7482+121C>T |
single nucleotide variant |
not provided [RCV001581406] |
Chr10:71800876 [GRCh38] Chr10:73560633 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1450-267G>A |
single nucleotide variant |
not provided [RCV001551820] |
Chr10:71674845 [GRCh38] Chr10:73434602 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5810T>C (p.Ile1937Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275566]|not provided [RCV001058269] |
Chr10:71785728 [GRCh38] Chr10:73545485 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2952T>C (p.His984=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001827357]|not provided [RCV001056942] |
Chr10:71705129 [GRCh38] Chr10:73464886 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108343]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002493374]|CDH23-related condition [RCV003396316]|Pituitary adenoma 5, multiple types [RCV003472273]|Usher syndrome type 1 [RCV001275419]|Usher syndrome type 1D [RCV001108342]|not provided [RCV000755904] |
Chr10:71617241 [GRCh38] Chr10:73376998 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.137C>T (p.Thr46Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275410]|not provided [RCV000755908] |
Chr10:71446387 [GRCh38] Chr10:73206144 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9382G>A (p.Ala3128Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559180]|Usher syndrome type 1D [RCV001559181] |
Chr10:71812481 [GRCh38] Chr10:73572238 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2817C>T (p.Leu939=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559186]|Usher syndrome type 1D [RCV001559187] |
Chr10:71704994 [GRCh38] Chr10:73464751 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8179-138C>T |
single nucleotide variant |
not provided [RCV001547511] |
Chr10:71807139 [GRCh38] Chr10:73566896 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2587+74G>C |
single nucleotide variant |
not provided [RCV001585409] |
Chr10:71702285 [GRCh38] Chr10:73462042 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4183G>A (p.Gly1395Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559298]|Usher syndrome type 1D [RCV001559299] |
Chr10:71734318 [GRCh38] Chr10:73494075 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5710_5712+3del |
deletion |
Retinitis pigmentosa [RCV000787805] |
Chr10:71785098..71785103 [GRCh38] Chr10:73544855..73544860 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7241A>T (p.Asp2414Val) |
single nucleotide variant |
Vitreoretinopathy [RCV000787907] |
Chr10:71799508 [GRCh38] Chr10:73559265 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5368+180A>G |
single nucleotide variant |
not provided [RCV001575798] |
Chr10:71779627 [GRCh38] Chr10:73539384 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.832+292G>A |
single nucleotide variant |
not provided [RCV001549638] |
Chr10:71578284 [GRCh38] Chr10:73338041 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2751C>T (p.Leu917=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001827023]|not provided [RCV000944593] |
Chr10:71704928 [GRCh38] Chr10:73464685 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4146C>T (p.Gly1382=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273541]|not provided [RCV000899174] |
Chr10:71734281 [GRCh38] Chr10:73494038 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_001164375.3(C10orf105):c.*3278G>A |
single nucleotide variant |
Usher syndrome type 1 [RCV001272556]|not provided [RCV000982523] |
Chr10:71712658 [GRCh38] Chr10:73472415 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8310C>T (p.Ala2770=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276050]|not provided [RCV000944843] |
Chr10:71807517 [GRCh38] Chr10:73567274 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4840C>T (p.Leu1614=) |
single nucleotide variant |
not provided [RCV000945036] |
Chr10:71741916 [GRCh38] Chr10:73501673 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2177-47C>T |
single nucleotide variant |
not provided [RCV000942900] |
Chr10:71694100 [GRCh38] Chr10:73453857 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9237C>T (p.Ala3079=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832183]|not provided [RCV000945143] |
Chr10:71811549 [GRCh38] Chr10:73571306 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8913C>T (p.Phe2971=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832106]|not provided [RCV000929313] |
Chr10:71810010 [GRCh38] Chr10:73569767 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4854G>A (p.Thr1618=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273547]|not provided [RCV000929619] |
Chr10:71777688 [GRCh38] Chr10:73537445 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2331G>A (p.Thr777=) |
single nucleotide variant |
not provided [RCV000921686] |
Chr10:71695459 [GRCh38] Chr10:73455216 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6830-7A>C |
single nucleotide variant |
Usher syndrome type 1 [RCV001275582]|not provided [RCV000945003] |
Chr10:71798347 [GRCh38] Chr10:73558104 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9450T>C (p.Asp3150=) |
single nucleotide variant |
not provided [RCV000945181] |
Chr10:71812549 [GRCh38] Chr10:73572306 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4542G>A (p.Gln1514=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001827031]|not provided [RCV000945200] |
Chr10:71740875 [GRCh38] Chr10:73500632 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2664C>T (p.Pro888=) |
single nucleotide variant |
not provided [RCV000902513] |
Chr10:71702625 [GRCh38] Chr10:73462382 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4251G>A (p.Arg1417=) |
single nucleotide variant |
not provided [RCV000928085] |
Chr10:71738539 [GRCh38] Chr10:73498296 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2877G>A (p.Ala959=) |
single nucleotide variant |
not provided [RCV000980928] |
Chr10:71705054 [GRCh38] Chr10:73464811 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6855C>T (p.Asp2285=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275583]|not provided [RCV000924062] |
Chr10:71798379 [GRCh38] Chr10:73558136 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6417C>T (p.Ser2139=) |
single nucleotide variant |
not provided [RCV000981030] |
Chr10:71793345 [GRCh38] Chr10:73553102 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2193G>A (p.Thr731=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275936]|not provided [RCV000983227] |
Chr10:71694163 [GRCh38] Chr10:73453920 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5125C>T (p.Leu1709=) |
single nucleotide variant |
not provided [RCV000925120] |
Chr10:71778246 [GRCh38] Chr10:73538003 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.10022G>A (p.Arg3341His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830650]|not provided [RCV000755906] |
Chr10:71815235 [GRCh38] Chr10:73574992 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7152T>G (p.Ala2384=) |
single nucleotide variant |
not provided [RCV000923771] |
Chr10:71799208 [GRCh38] Chr10:73558965 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7809C>T (p.Asp2603=) |
single nucleotide variant |
not provided [RCV000923823] |
Chr10:71803357 [GRCh38] Chr10:73563114 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.978T>G (p.Ser326=) |
single nucleotide variant |
not provided [RCV000976054] |
Chr10:71617237 [GRCh38] Chr10:73376994 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4890C>T (p.Asn1630=) |
single nucleotide variant |
not provided [RCV000944230] |
Chr10:71777724 [GRCh38] Chr10:73537481 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1311G>C (p.Val437=) |
single nucleotide variant |
not provided [RCV000879310] |
Chr10:71646479 [GRCh38] Chr10:73406236 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002495467]|Usher syndrome type 1 [RCV001276039]|not provided [RCV000904191] |
Chr10:71799169 [GRCh38] Chr10:73558926 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5112C>T (p.His1704=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104306]|Usher syndrome type 1 [RCV001827010]|Usher syndrome type 1D [RCV001104307]|not provided [RCV000943881] |
Chr10:71778233 [GRCh38] Chr10:73537990 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5821-8C>G |
single nucleotide variant |
not provided [RCV000976223] |
Chr10:71788932 [GRCh38] Chr10:73548689 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5121C>T (p.Tyr1707=) |
single nucleotide variant |
not provided [RCV000944358] |
Chr10:71778242 [GRCh38] Chr10:73537999 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8377C>A (p.Arg2793=) |
single nucleotide variant |
not provided [RCV000944001] |
Chr10:71807584 [GRCh38] Chr10:73567341 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8316C>T (p.Asn2772=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276051]|not provided [RCV000928302] |
Chr10:71807523 [GRCh38] Chr10:73567280 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2391G>A (p.Val797=) |
single nucleotide variant |
not provided [RCV000981033] |
Chr10:71695519 [GRCh38] Chr10:73455276 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8247C>T (p.Asn2749=) |
single nucleotide variant |
not provided [RCV000944552] |
Chr10:71807345 [GRCh38] Chr10:73567102 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6678C>T (p.Asn2226=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275580]|not provided [RCV000926272] |
Chr10:71793606 [GRCh38] Chr10:73553363 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8877C>T (p.Ile2959=) |
single nucleotide variant |
not provided [RCV000927838] |
Chr10:71809974 [GRCh38] Chr10:73569731 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3537G>A (p.Glu1179=) |
single nucleotide variant |
not provided [RCV000927842] |
Chr10:71725478 [GRCh38] Chr10:73485235 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6163C>T (p.Leu2055=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275569]|not provided [RCV000928358] |
Chr10:71791245 [GRCh38] Chr10:73551002 [GRCh37] Chr10:10q22.1 |
benign|uncertain significance |
NM_022124.6(CDH23):c.9987A>G (p.Thr3329=) |
single nucleotide variant |
not provided [RCV000944502] |
Chr10:71815200 [GRCh38] Chr10:73574957 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2994C>T (p.Ala998=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001827105]|not provided [RCV000981289] |
Chr10:71706937 [GRCh38] Chr10:73466694 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3716-8T>C |
single nucleotide variant |
not provided [RCV000927863] |
Chr10:71731979 [GRCh38] Chr10:73491736 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2289+95G>A |
single nucleotide variant |
not provided [RCV000927864] |
Chr10:71694354 [GRCh38] Chr10:73454111 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6603C>T (p.His2201=) |
single nucleotide variant |
not provided [RCV000944300] |
Chr10:71793531 [GRCh38] Chr10:73553288 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8121G>A (p.Pro2707=) |
single nucleotide variant |
not provided [RCV000944384] |
Chr10:71806224 [GRCh38] Chr10:73565981 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7055-5C>T |
single nucleotide variant |
not provided [RCV000905479] |
Chr10:71799106 [GRCh38] Chr10:73558863 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5685C>T (p.Arg1895=) |
single nucleotide variant |
not provided [RCV000944514] |
Chr10:71785073 [GRCh38] Chr10:73544830 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1401C>A (p.Ile467=) |
single nucleotide variant |
not provided [RCV000982331] |
Chr10:71646569 [GRCh38] Chr10:73406326 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6050-1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473707]|Retinal dystrophy [RCV001075272]|not provided [RCV001862605] |
Chr10:71791131 [GRCh38] Chr10:73550888 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.5187+1G>A |
single nucleotide variant |
Retinal dystrophy [RCV001075278]|not provided [RCV001376876] |
Chr10:71778309 [GRCh38] Chr10:73538066 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.9525_9526del (p.Glu3176fs) |
deletion |
not provided [RCV001044031] |
Chr10:71812781..71812782 [GRCh38] Chr10:73572538..73572539 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8179-195C>T |
single nucleotide variant |
not provided [RCV001571146] |
Chr10:71807082 [GRCh38] Chr10:73566839 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9451G>A (p.Asp3151Asn) |
single nucleotide variant |
not provided [RCV001907586] |
Chr10:71812550 [GRCh38] Chr10:73572307 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7087G>A (p.Glu2363Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001827274]|not provided [RCV001044524] |
Chr10:71799143 [GRCh38] Chr10:73558900 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.336+1G>T |
single nucleotide variant |
Retinal dystrophy [RCV001075817] |
Chr10:71511002 [GRCh38] Chr10:73270759 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2060-1G>A |
single nucleotide variant |
Retinal dystrophy [RCV001075818] |
Chr10:71690467 [GRCh38] Chr10:73450224 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002481865]|Inborn genetic diseases [RCV003160241]|Usher syndrome type 1 [RCV001832389]|not provided [RCV001038526] |
Chr10:71803049 [GRCh38] Chr10:73562806 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8624T>C (p.Ile2875Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276920]|not provided [RCV001039448] |
Chr10:71807909 [GRCh38] Chr10:73567666 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6194A>G (p.Asn2065Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832472]|not provided [RCV001051594] |
Chr10:71791276 [GRCh38] Chr10:73551033 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2804G>A (p.Arg935His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002481972]|Usher syndrome type 1 [RCV001832487]|not provided [RCV001052929] |
Chr10:71704981 [GRCh38] Chr10:73464738 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3035T>C (p.Phe1012Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833656]|not provided [RCV001068037] |
Chr10:71706978 [GRCh38] Chr10:73466735 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5968G>T (p.Ala1990Ser) |
single nucleotide variant |
not provided [RCV001041001] |
Chr10:71790332 [GRCh38] Chr10:73550089 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3899A>G (p.Tyr1300Cys) |
single nucleotide variant |
not provided [RCV001045307] |
Chr10:71732170 [GRCh38] Chr10:73491927 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8818C>A (p.His2940Asn) |
single nucleotide variant |
not provided [RCV001045308] |
Chr10:71809915 [GRCh38] Chr10:73569672 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn) |
single nucleotide variant |
Hearing loss, autosomal recessive [RCV001291209]|Pituitary adenoma 5, multiple types [RCV003473693]|Usher syndrome [RCV003323792]|Usher syndrome type 1 [RCV001827450]|not provided [RCV001068516] |
Chr10:71706911 [GRCh38] Chr10:73466668 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.7919_7925dup (p.Gly2643_Leu2644insTerGly) |
duplication |
not provided [RCV001041174] |
Chr10:71805850..71805851 [GRCh38] Chr10:73565607..73565608 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2789C>T (p.Pro930Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272546]|not provided [RCV001068830] |
Chr10:71704966 [GRCh38] Chr10:73464723 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7902_7903insTTACGAG (p.Val2635fs) |
insertion |
Pituitary adenoma 5, multiple types [RCV003473681]|not provided [RCV001061825] |
Chr10:71805829..71805830 [GRCh38] Chr10:73565586..73565587 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.2561G>A (p.Arg854His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832407]|not provided [RCV001042258] |
Chr10:71702185 [GRCh38] Chr10:73461942 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.559G>A (p.Val187Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104972]|Usher syndrome type 1 [RCV001832443]|Usher syndrome type 1D [RCV001104971]|not provided [RCV001047115] |
Chr10:71566871 [GRCh38] Chr10:73326628 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6859A>G (p.Asn2287Asp) |
single nucleotide variant |
not provided [RCV001042501] |
Chr10:71798383 [GRCh38] Chr10:73558140 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9739-19_9800del |
deletion |
not provided [RCV001047397] |
Chr10:71814932..71815012 [GRCh38] Chr10:73574689..73574769 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.11:g.(?_71510072)_(71511222_?)del |
deletion |
not provided [RCV001031976] |
Chr10:73269829..73270979 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4390G>T (p.Ala1464Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273542]|not provided [RCV001048503] |
Chr10:71739674 [GRCh38] Chr10:73499431 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.6393del (p.Ile2132fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003473704]|Retinal dystrophy [RCV001074363]|not provided [RCV001227029] |
Chr10:71793320 [GRCh38] Chr10:73553077 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4206+5G>A |
single nucleotide variant |
Usher syndrome type 1 [RCV001836070]|not provided [RCV001035474] |
Chr10:71734346 [GRCh38] Chr10:73494103 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2839del (p.Val947fs) |
deletion |
not provided [RCV001042984] |
Chr10:71705015 [GRCh38] Chr10:73464772 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3688G>A (p.Val1230Met) |
single nucleotide variant |
Usher syndrome [RCV003389483]|Usher syndrome type 1 [RCV001272889]|not provided [RCV001049323] |
Chr10:71730577 [GRCh38] Chr10:73490334 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NC_000010.11:g.(?_71643861)_(71647732_?)del |
deletion |
not provided [RCV001033762] |
Chr10:73403618..73407489 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6343C>T (p.Arg2115Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559176]|Retinal dystrophy [RCV001075172]|Usher syndrome type 1D [RCV001559177] |
Chr10:71793271 [GRCh38] Chr10:73553028 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6907G>A (p.Glu2303Lys) |
single nucleotide variant |
not provided [RCV001043443] |
Chr10:71798431 [GRCh38] Chr10:73558188 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.256G>A (p.Val86Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276799]|not provided [RCV001043454] |
Chr10:71510192 [GRCh38] Chr10:73269949 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9692A>G (p.Gln3231Arg) |
single nucleotide variant |
not provided [RCV001043572] |
Chr10:71813302 [GRCh38] Chr10:73573059 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.997A>T (p.Thr333Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002552529]|Usher syndrome type 1 [RCV001832415]|not provided [RCV001043626] |
Chr10:71617256 [GRCh38] Chr10:73377013 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3579+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000770812] |
Chr10:71725521 [GRCh38] Chr10:73485278 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000770813]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002493408] |
Chr10:71810017 [GRCh38] Chr10:73569774 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.6067_6070dup (p.Gly2024fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000770814] |
Chr10:71791147..71791148 [GRCh38] Chr10:73550904..73550905 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4504C>T (p.Arg1502Ter) |
single nucleotide variant |
Retinal dystrophy [RCV000787806] |
Chr10:71740837 [GRCh38] Chr10:73500594 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473521]|Usher syndrome type 1 [RCV001271842]|not specified [RCV000825296] |
Chr10:71645895 [GRCh38] Chr10:73405652 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.623C>T (p.Thr208Ile) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830832]|not provided [RCV001766760]|not specified [RCV000825298] |
Chr10:71566935 [GRCh38] Chr10:73326692 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5821G>A (p.Asp1941Asn) |
single nucleotide variant |
not provided [RCV002285419]|not specified [RCV000825303] |
Chr10:71788940 [GRCh38] Chr10:73548697 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2329_2330del (p.Thr777fs) |
deletion |
not provided [RCV000807475] |
Chr10:71695456..71695457 [GRCh38] Chr10:73455213..73455214 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.9503G>A (p.Arg3168His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276929]|not provided [RCV002536066]|not specified [RCV000825887] |
Chr10:71812602 [GRCh38] Chr10:73572359 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5369-1G>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000770811] |
Chr10:71784286 [GRCh38] Chr10:73544043 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000778287]|Usher syndrome type 1 [RCV001272899]|Usher syndrome type 1D [RCV001107534]|not provided [RCV001061690]|not specified [RCV001195596] |
Chr10:71741738 [GRCh38] Chr10:73501495 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.5747G>A (p.Arg1916His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000778288]|not provided [RCV001856154]|not specified [RCV002222635] |
Chr10:71785665 [GRCh38] Chr10:73545422 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4104+7G>A |
single nucleotide variant |
not provided [RCV000980798] |
Chr10:71732382 [GRCh38] Chr10:73492139 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7569G>A (p.Pro2523=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276042]|not provided [RCV000929265] |
Chr10:71802984 [GRCh38] Chr10:73562741 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.7140G>T (p.Pro2380=) |
single nucleotide variant |
not provided [RCV000978588] |
Chr10:71799196 [GRCh38] Chr10:73558953 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8673C>T (p.Phe2891=) |
single nucleotide variant |
not provided [RCV000983597] |
Chr10:71807958 [GRCh38] Chr10:73567715 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9606C>A (p.Gly3202=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272664]|not provided [RCV000925242] |
Chr10:71812863 [GRCh38] Chr10:73572620 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473526]|Usher syndrome type 1 [RCV001004341]|Usher syndrome type 1D [RCV002290979]|not provided [RCV000904190] |
Chr10:71645972 [GRCh38] Chr10:73405729 [GRCh37] Chr10:10q22.1 |
likely pathogenic|likely benign|uncertain significance |
NM_022124.6(CDH23):c.4105-7C>T |
single nucleotide variant |
not provided [RCV000894932] |
Chr10:71734233 [GRCh38] Chr10:73493990 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7452A>G (p.Val2484=) |
single nucleotide variant |
not provided [RCV000980486] |
Chr10:71800725 [GRCh38] Chr10:73560482 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9380+10G>A |
single nucleotide variant |
not provided [RCV000980505] |
Chr10:71812025 [GRCh38] Chr10:73571782 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.777C>A (p.Thr259=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275417]|not provided [RCV000944783] |
Chr10:71577937 [GRCh38] Chr10:73337694 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2745C>T (p.Ile915=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272544]|not provided [RCV000925557] |
Chr10:71704922 [GRCh38] Chr10:73464679 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.498C>T (p.Ser166=) |
single nucleotide variant |
not provided [RCV000930928] |
Chr10:71566810 [GRCh38] Chr10:73326567 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.414C>T (p.Ser138=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832240]|not provided [RCV000977207] |
Chr10:71511197 [GRCh38] Chr10:73270954 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1122G>T (p.Val374=) |
single nucleotide variant |
not provided [RCV000977662] |
Chr10:71617381 [GRCh38] Chr10:73377138 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6453C>T (p.Thr2151=) |
single nucleotide variant |
not provided [RCV000918210] |
Chr10:71793381 [GRCh38] Chr10:73553138 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1317C>T (p.Asp439=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001271843]|not provided [RCV000979387] |
Chr10:71646485 [GRCh38] Chr10:73406242 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.2766C>T (p.Asn922=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272545]|not provided [RCV000976391] |
Chr10:71704943 [GRCh38] Chr10:73464700 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9639G>A (p.Ser3213=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832290]|not provided [RCV000982379] |
Chr10:71813249 [GRCh38] Chr10:73573006 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3486G>A (p.Gly1162=) |
single nucleotide variant |
not provided [RCV000977795] |
Chr10:71725427 [GRCh38] Chr10:73485184 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2290-538T>C |
single nucleotide variant |
not provided [RCV000938968] |
Chr10:71694880 [GRCh38] Chr10:73454637 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2289+377G>A |
single nucleotide variant |
not provided [RCV000941636] |
Chr10:71694636 [GRCh38] Chr10:73454393 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1524G>C (p.Leu508=) |
single nucleotide variant |
not provided [RCV000980658] |
Chr10:71677465 [GRCh38] Chr10:73437222 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4011C>A (p.Ala1337=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832281]|not provided [RCV000981049] |
Chr10:71732282 [GRCh38] Chr10:73492039 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4431C>T (p.Gly1477=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273544]|not provided [RCV000976816] |
Chr10:71739715 [GRCh38] Chr10:73499472 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8901T>G (p.Arg2967=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272662]|not provided [RCV000944809] |
Chr10:71809998 [GRCh38] Chr10:73569755 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.738C>T (p.Tyr246=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280191]|not provided [RCV000942215] |
Chr10:71570903 [GRCh38] Chr10:73330660 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2022C>T (p.Pro674=) |
single nucleotide variant |
not provided [RCV000942219] |
Chr10:71687682 [GRCh38] Chr10:73447439 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2419C>T (p.Leu807=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001827094]|not provided [RCV000979563] |
Chr10:71702043 [GRCh38] Chr10:73461800 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2814C>T (p.Phe938=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277716]|not provided [RCV000931602] |
Chr10:71704991 [GRCh38] Chr10:73464748 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.753+9C>T |
single nucleotide variant |
not provided [RCV000941858] |
Chr10:71570927 [GRCh38] Chr10:73330684 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9876G>C (p.Leu3292=) |
single nucleotide variant |
not provided [RCV000982278] |
Chr10:71815089 [GRCh38] Chr10:73574846 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3192C>T (p.Ala1064=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277721]|not provided [RCV000982288] |
Chr10:71709183 [GRCh38] Chr10:73468940 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3684C>T (p.Val1228=) |
single nucleotide variant |
not provided [RCV000920807] |
Chr10:71730573 [GRCh38] Chr10:73490330 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6870G>A (p.Thr2290=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001827113]|not provided [RCV000982532] |
Chr10:71798394 [GRCh38] Chr10:73558151 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6027C>A (p.Leu2009=) |
single nucleotide variant |
not provided [RCV000982537] |
Chr10:71790391 [GRCh38] Chr10:73550148 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4923G>A (p.Val1641=) |
single nucleotide variant |
not provided [RCV000942606] |
Chr10:71777757 [GRCh38] Chr10:73537514 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2967C>T (p.Asn989=) |
single nucleotide variant |
not provided [RCV000978593] |
Chr10:71706910 [GRCh38] Chr10:73466667 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2442G>A (p.Val814=) |
single nucleotide variant |
not provided [RCV000979831] |
Chr10:71702066 [GRCh38] Chr10:73461823 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5051G>A (p.Arg1684His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830959]|not provided [RCV000899080] |
Chr10:71777885 [GRCh38] Chr10:73537642 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9246C>G (p.Leu3082=) |
single nucleotide variant |
not provided [RCV000982015] |
Chr10:71811558 [GRCh38] Chr10:73571315 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.201T>C (p.Phe67=) |
single nucleotide variant |
not provided [RCV000981054] |
Chr10:71510137 [GRCh38] Chr10:73269894 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5016T>C (p.Tyr1672=) |
single nucleotide variant |
not provided [RCV000978728] |
Chr10:71777850 [GRCh38] Chr10:73537607 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2712G>A (p.Pro904=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275945]|not provided [RCV000940967] |
Chr10:71702673 [GRCh38] Chr10:73462430 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2289+250C>T |
single nucleotide variant |
not provided [RCV000942108] |
Chr10:71694509 [GRCh38] Chr10:73454266 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6447G>C (p.Arg2149=) |
single nucleotide variant |
not provided [RCV000942126] |
Chr10:71793375 [GRCh38] Chr10:73553132 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4863C>T (p.Tyr1621=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273548]|not provided [RCV000942139] |
Chr10:71777697 [GRCh38] Chr10:73537454 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.7363-10C>T |
single nucleotide variant |
not provided [RCV000941188] |
Chr10:71800626 [GRCh38] Chr10:73560383 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.138G>A (p.Thr46=) |
single nucleotide variant |
not provided [RCV000907396] |
Chr10:71446388 [GRCh38] Chr10:73206145 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1449+10C>T |
single nucleotide variant |
not provided [RCV000922925] |
Chr10:71646627 [GRCh38] Chr10:73406384 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6024C>T (p.Gly2008=) |
single nucleotide variant |
not provided [RCV000944960] |
Chr10:71790388 [GRCh38] Chr10:73550145 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.387G>A (p.Ala129=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275413]|not provided [RCV000917114] |
Chr10:71511170 [GRCh38] Chr10:73270927 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3165G>A (p.Val1055=) |
single nucleotide variant |
not provided [RCV000897009] |
Chr10:71709156 [GRCh38] Chr10:73468913 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.714C>T (p.Asn238=) |
single nucleotide variant |
not provided [RCV000945133] |
Chr10:71570879 [GRCh38] Chr10:73330636 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5676G>C (p.Ala1892=) |
single nucleotide variant |
not provided [RCV000928915] |
Chr10:71785064 [GRCh38] Chr10:73544821 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.939T>C (p.Thr313=) |
single nucleotide variant |
not provided [RCV000980217] |
Chr10:71615610 [GRCh38] Chr10:73375367 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3609T>C (p.Asp1203=) |
single nucleotide variant |
not provided [RCV000919548] |
Chr10:71730498 [GRCh38] Chr10:73490255 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2289+40C>T |
single nucleotide variant |
not provided [RCV000944216] |
Chr10:71694299 [GRCh38] Chr10:73454056 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2289+428A>C |
single nucleotide variant |
not provided [RCV000938950] |
Chr10:71694687 [GRCh38] Chr10:73454444 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5236C>T (p.Arg1746Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107061]|Usher syndrome type 1 [RCV001273556]|Usher syndrome type 1D [RCV001107062]|not provided [RCV000941265] |
Chr10:71779315 [GRCh38] Chr10:73539072 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.7818C>T (p.Asp2606=) |
single nucleotide variant |
not provided [RCV000981422] |
Chr10:71803366 [GRCh38] Chr10:73563123 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4836A>C (p.Pro1612=) |
single nucleotide variant |
not provided [RCV000936307] |
Chr10:71741912 [GRCh38] Chr10:73501669 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1691A>G (p.Asp564Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003271403] |
Chr10:71677632 [GRCh38] Chr10:73437389 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8688C>T (p.Asn2896=) |
single nucleotide variant |
not provided [RCV000914840] |
Chr10:71807973 [GRCh38] Chr10:73567730 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2137T>C (p.Leu713=) |
single nucleotide variant |
not provided [RCV000976597] |
Chr10:71690545 [GRCh38] Chr10:73450302 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3231T>G (p.Pro1077=) |
single nucleotide variant |
not provided [RCV000841837] |
Chr10:71712675 [GRCh38] Chr10:73472432 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8256C>T (p.Gly2752=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276047]|not provided [RCV000921267]|not specified [RCV000825122] |
Chr10:71807354 [GRCh38] Chr10:73567111 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.4128G>C (p.Leu1376=) |
single nucleotide variant |
not provided [RCV002067405]|not specified [RCV000825124] |
Chr10:71734263 [GRCh38] Chr10:73494020 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1449+100A>C |
single nucleotide variant |
not provided [RCV003413663]|not specified [RCV000825128] |
Chr10:71646717 [GRCh38] Chr10:73406474 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT |
indel |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002501059]|not provided [RCV000797837] |
Chr10:71734236..71734238 [GRCh38] Chr10:73493993..73493995 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002487623]|Retinitis pigmentosa [RCV000787908]|not provided [RCV002535761] |
Chr10:71704944 [GRCh38] Chr10:73464701 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.945+8C>T |
single nucleotide variant |
not provided [RCV000976727] |
Chr10:71615624 [GRCh38] Chr10:73375381 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.130G>A (p.Glu44Lys) |
single nucleotide variant |
not specified [RCV000825884] |
Chr10:71446380 [GRCh38] Chr10:73206137 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2289+135C>T |
single nucleotide variant |
not provided [RCV000838374] |
Chr10:71694394 [GRCh38] Chr10:73454151 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2289+240T>C |
single nucleotide variant |
not provided [RCV000838375] |
Chr10:71694499 [GRCh38] Chr10:73454256 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2290-240C>G |
single nucleotide variant |
not provided [RCV000838376] |
Chr10:71695178 [GRCh38] Chr10:73454935 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2953+146C>T |
single nucleotide variant |
not provided [RCV000838377] |
Chr10:71705276 [GRCh38] Chr10:73465033 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4206+131T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001554728]|Pituitary adenoma 5, multiple types [RCV001554730]|Usher syndrome type 1D [RCV001554729]|not provided [RCV000838378] |
Chr10:71734472 [GRCh38] Chr10:73494229 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5821-309G>A |
single nucleotide variant |
not provided [RCV000840304] |
Chr10:71788631 [GRCh38] Chr10:73548388 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3305T>A (p.Phe1102Tyr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830831]|not specified [RCV000825297] |
Chr10:71712749 [GRCh38] Chr10:73472506 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1753-78A>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533694]|Usher syndrome type 1D [RCV001533646]|not provided [RCV000829473] |
Chr10:71679309 [GRCh38] Chr10:73439066 [GRCh37] Chr10:10q22.1 |
benign |
NC_000010.11:g.71695551T>C |
single nucleotide variant |
not provided [RCV000829475] |
Chr10:73455308 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4206+61T>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533588]|Usher syndrome type 1D [RCV001533587]|not provided [RCV000829476] |
Chr10:71734402 [GRCh38] Chr10:73494159 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.9555C>T (p.Asp3185=) |
single nucleotide variant |
not provided [RCV000976469] |
Chr10:71812812 [GRCh38] Chr10:73572569 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022153.2(VSIR):c.561T>G (p.Asp187Glu) |
single nucleotide variant |
Retinitis pigmentosa-deafness syndrome [RCV000988381] |
Chr10:71760875 [GRCh38] Chr10:73520632 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5610C>T (p.Val1870=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001827075]|not provided [RCV000976492] |
Chr10:71784998 [GRCh38] Chr10:73544755 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.924T>C (p.His308=) |
single nucleotide variant |
not provided [RCV000976907] |
Chr10:71615595 [GRCh38] Chr10:73375352 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7706G>A (p.Arg2569Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001331234]|Usher syndrome type 1 [RCV001827132]|not provided [RCV000991778] |
Chr10:71803254 [GRCh38] Chr10:73563011 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6344del (p.Arg2115fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003472407]|not provided [RCV000810126] |
Chr10:71793272 [GRCh38] Chr10:73553029 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.639C>T (p.Thr213=) |
single nucleotide variant |
not provided [RCV000938077] |
Chr10:71570804 [GRCh38] Chr10:73330561 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1135-128A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001554725]|Pituitary adenoma 5, multiple types [RCV001554727]|Usher syndrome type 1D [RCV001554726]|not provided [RCV000838371] |
Chr10:71643733 [GRCh38] Chr10:73403490 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4617+154C>T |
single nucleotide variant |
not provided [RCV000838388] |
Chr10:71741104 [GRCh38] Chr10:73500861 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4618-77C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533592]|Usher syndrome type 1D [RCV001533591]|not provided [RCV000838389] |
Chr10:71741617 [GRCh38] Chr10:73501374 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4846-135C>T |
single nucleotide variant |
not provided [RCV000838390] |
Chr10:71777545 [GRCh38] Chr10:73537302 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.6830-81G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533709]|Usher syndrome type 1D [RCV001533708]|not provided [RCV000838395] |
Chr10:71798273 [GRCh38] Chr10:73558030 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1291-89C>T |
single nucleotide variant |
not provided [RCV000838403] |
Chr10:71646370 [GRCh38] Chr10:73406127 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9320-93C>G |
single nucleotide variant |
not provided [RCV000838406] |
Chr10:71811862 [GRCh38] Chr10:73571619 [GRCh37] Chr10:10q22.1 |
benign |
NC_000010.11:g.71784847T>C |
single nucleotide variant |
not provided [RCV000835157] |
Chr10:73544604 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5328C>T (p.Asn1776=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273558]|not provided [RCV000909313]|not specified [RCV000825121] |
Chr10:71779407 [GRCh38] Chr10:73539164 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.7056G>A (p.Gly2352=) |
single nucleotide variant |
not specified [RCV000825123] |
Chr10:71799112 [GRCh38] Chr10:73558869 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9858C>T (p.His3286=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279087]|not provided [RCV000919957]|not specified [RCV000825126] |
Chr10:71815071 [GRCh38] Chr10:73574828 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3438T>C (p.His1146=) |
single nucleotide variant |
not provided [RCV001462722]|not specified [RCV000825127] |
Chr10:71725379 [GRCh38] Chr10:73485136 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5924-90G>A |
single nucleotide variant |
not provided [RCV000839179] |
Chr10:71790198 [GRCh38] Chr10:73549955 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1753-7C>T |
single nucleotide variant |
not provided [RCV000842035] |
Chr10:71679380 [GRCh38] Chr10:73439137 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3331G>T (p.Val1111Phe) |
single nucleotide variant |
Vitreoretinopathy [RCV000787807] |
Chr10:71712775 [GRCh38] Chr10:73472532 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9320-34C>T |
single nucleotide variant |
not provided [RCV000836032] |
Chr10:71811921 [GRCh38] Chr10:73571678 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9979G>A (p.Ala3327Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001271958]|not provided [RCV002538230]|not specified [RCV000825883] |
Chr10:71815192 [GRCh38] Chr10:73574949 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2289+3G>A |
single nucleotide variant |
not provided [RCV000842477] |
Chr10:71694262 [GRCh38] Chr10:73454019 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1263C>T (p.Tyr421=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280195]|not provided [RCV000842732] |
Chr10:71645953 [GRCh38] Chr10:73405710 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.-5-251A>G |
single nucleotide variant |
not provided [RCV000840295] |
Chr10:71439576 [GRCh38] Chr10:73199333 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.754-254T>C |
single nucleotide variant |
not provided [RCV000840296] |
Chr10:71577660 [GRCh38] Chr10:73337417 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1515-341T>A |
single nucleotide variant |
not provided [RCV000840297] |
Chr10:71677115 [GRCh38] Chr10:73436872 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2290-268G>A |
single nucleotide variant |
not provided [RCV000840298] |
Chr10:71695150 [GRCh38] Chr10:73454907 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2290-267C>T |
single nucleotide variant |
not provided [RCV000840299] |
Chr10:71695151 [GRCh38] Chr10:73454908 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4359+240A>G |
single nucleotide variant |
not provided [RCV000829477] |
Chr10:71738887 [GRCh38] Chr10:73498644 [GRCh37] Chr10:10q22.1 |
benign |
NC_000010.11:g.71739804C>G |
single nucleotide variant |
not provided [RCV000829478] |
Chr10:73499561 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2177-2A>G |
single nucleotide variant |
not provided [RCV000810565] |
Chr10:71694145 [GRCh38] Chr10:73453902 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4490T>C (p.Val1497Ala) |
single nucleotide variant |
CDH23-Related Disorders [RCV003483769]|not provided [RCV001058790] |
Chr10:71740823 [GRCh38] Chr10:73500580 [GRCh37] Chr10:10q22.1 |
uncertain significance|not provided |
NM_022124.6(CDH23):c.1411G>A (p.Glu471Lys) |
single nucleotide variant |
not provided [RCV001772149]|not specified [RCV000825885] |
Chr10:71646579 [GRCh38] Chr10:73406336 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6011G>A (p.Gly2004Asp) |
single nucleotide variant |
not specified [RCV000825886] |
Chr10:71790375 [GRCh38] Chr10:73550132 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6831del (p.Lys2278fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003472358]|Usher syndrome [RCV003230593]|not provided [RCV000798761] |
Chr10:71798354 [GRCh38] Chr10:73558111 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.2659G>T (p.Asp887Tyr) |
single nucleotide variant |
not provided [RCV000994437] |
Chr10:71702620 [GRCh38] Chr10:73462377 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001102967]|Inborn genetic diseases [RCV002536093]|Usher syndrome type 1 [RCV001276055]|Usher syndrome type 1D [RCV001102968]|not provided [RCV000827303] |
Chr10:71807651 [GRCh38] Chr10:73567408 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NC_000010.11:g.71511238A>G |
single nucleotide variant |
not provided [RCV000829471] |
Chr10:73270995 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2290-528C>T |
single nucleotide variant |
not provided [RCV000977127] |
Chr10:71694890 [GRCh38] Chr10:73454647 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4425C>T (p.Ser1475=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830828]|not provided [RCV001503482]|not specified [RCV000825125] |
Chr10:71739709 [GRCh38] Chr10:73499466 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_001164375.3(C10orf105):c.*2825G>C |
single nucleotide variant |
not provided [RCV000840300] |
Chr10:71713111 [GRCh38] Chr10:73472868 [GRCh37] Chr10:10q22.1 |
benign |
NM_001164375.3(C10orf105):c.*2811G>A |
single nucleotide variant |
not provided [RCV000840301] |
Chr10:71713125 [GRCh38] Chr10:73472882 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4360-333T>C |
single nucleotide variant |
not provided [RCV000840302] |
Chr10:71739311 [GRCh38] Chr10:73499068 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4488+298G>A |
single nucleotide variant |
not provided [RCV000840303] |
Chr10:71740070 [GRCh38] Chr10:73499827 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.6366C>T (p.Thr2122=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278277]|not provided [RCV000978406] |
Chr10:71793294 [GRCh38] Chr10:73553051 [GRCh37] Chr10:10q22.1 |
likely benign |
NC_000010.11:g.71724016G>A |
single nucleotide variant |
not provided [RCV000837047] |
Chr10:73483773 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2289+467A>G |
single nucleotide variant |
not provided [RCV000938967] |
Chr10:71694726 [GRCh38] Chr10:73454483 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1090G>A (p.Gly364Ser) |
single nucleotide variant |
not provided [RCV000976460] |
Chr10:71617349 [GRCh38] Chr10:73377106 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9320-1G>A |
single nucleotide variant |
not provided [RCV000824241] |
Chr10:71811954 [GRCh38] Chr10:73571711 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.306C>T (p.Thr102=) |
single nucleotide variant |
not provided [RCV000942068] |
Chr10:71510971 [GRCh38] Chr10:73270728 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3522C>T (p.His1174=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272563]|not provided [RCV000942877] |
Chr10:71725463 [GRCh38] Chr10:73485220 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5604C>T (p.Ser1868=) |
single nucleotide variant |
not provided [RCV000841005] |
Chr10:71784992 [GRCh38] Chr10:73544749 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9999A>G (p.Lys3333=) |
single nucleotide variant |
not provided [RCV000981133] |
Chr10:71815212 [GRCh38] Chr10:73574969 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3186C>T (p.Thr1062=) |
single nucleotide variant |
not provided [RCV000980144] |
Chr10:71709177 [GRCh38] Chr10:73468934 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4582G>A (p.Glu1528Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273545]|not provided [RCV001050380]|not specified [RCV000825882] |
Chr10:71740915 [GRCh38] Chr10:73500672 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3712T>G (p.Ser1238Ala) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830843]|not provided [RCV001371495]|not specified [RCV000825888] |
Chr10:71730601 [GRCh38] Chr10:73490358 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7568C>T (p.Pro2523Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001825684]|not provided [RCV001242078]|not specified [RCV000825889] |
Chr10:71802983 [GRCh38] Chr10:73562740 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2289+413T>A |
single nucleotide variant |
not provided [RCV000940017] |
Chr10:71694672 [GRCh38] Chr10:73454429 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1750C>T (p.Arg584Trp) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275930]|not provided [RCV000941267] |
Chr10:71677691 [GRCh38] Chr10:73437448 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.145+135C>T |
single nucleotide variant |
not provided [RCV000838368] |
Chr10:71446530 [GRCh38] Chr10:73206287 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.146-125T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001554481]|Pituitary adenoma 5, multiple types [RCV001554483]|Usher syndrome type 1D [RCV001554482]|not provided [RCV000838370] |
Chr10:71509957 [GRCh38] Chr10:73269714 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1515-193A>G |
single nucleotide variant |
not provided [RCV000838372] |
Chr10:71677263 [GRCh38] Chr10:73437020 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1752+110T>C |
single nucleotide variant |
not provided [RCV000838373] |
Chr10:71677803 [GRCh38] Chr10:73437560 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1290+217T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533643]|Usher syndrome type 1D [RCV001533642]|not provided [RCV000838386] |
Chr10:71646197 [GRCh38] Chr10:73405954 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2059+79C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533700]|Usher syndrome type 1D [RCV001533699]|not provided [RCV000838387] |
Chr10:71687798 [GRCh38] Chr10:73447555 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.-5-83C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533585]|Usher syndrome type 1D [RCV001533584]|not provided [RCV000829470] |
Chr10:71439744 [GRCh38] Chr10:73199501 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1134+164C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001554486]|Pituitary adenoma 5, multiple types [RCV001554488]|Usher syndrome type 1D [RCV001554487]|not provided [RCV000829472] |
Chr10:71617557 [GRCh38] Chr10:73377314 [GRCh37] Chr10:10q22.1 |
benign |
NC_000010.11:g.71679344T>C |
single nucleotide variant |
not provided [RCV000829474] |
Chr10:73439101 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3819C>T (p.Tyr1273=) |
single nucleotide variant |
not provided [RCV000896025] |
Chr10:71732090 [GRCh38] Chr10:73491847 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.546C>T (p.Ser182=) |
single nucleotide variant |
not provided [RCV000896991] |
Chr10:71566858 [GRCh38] Chr10:73326615 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3352G>A (p.Gly1118Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272559]|not provided [RCV000915870] |
Chr10:71712796 [GRCh38] Chr10:73472553 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8980-7C>T |
single nucleotide variant |
not provided [RCV000980508] |
Chr10:71810465 [GRCh38] Chr10:73570222 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4230C>T (p.Asp1410=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832273]|not provided [RCV000979819] |
Chr10:71738518 [GRCh38] Chr10:73498275 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3009_3010inv (p.Val1004Met) |
inversion |
not provided [RCV000941616] |
Chr10:71706952..71706953 [GRCh38] Chr10:73466709..73466710 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002505492]|Usher syndrome type 1 [RCV001276046]|not provided [RCV000980661] |
Chr10:71807327 [GRCh38] Chr10:73567084 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3370-46T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533766]|Usher syndrome type 1D [RCV001533765]|not provided [RCV000835780] |
Chr10:71723999 [GRCh38] Chr10:73483756 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.8283C>T (p.Asn2761=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276048]|not provided [RCV000842433] |
Chr10:71807381 [GRCh38] Chr10:73567138 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5187+73C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533652]|Usher syndrome type 1D [RCV001533651]|not provided [RCV000836109] |
Chr10:71778381 [GRCh38] Chr10:73538138 [GRCh37] Chr10:10q22.1 |
benign |
NC_000010.11:g.71799470C>T |
single nucleotide variant |
not provided [RCV000836110] |
Chr10:73559227 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.288+9T>G |
single nucleotide variant |
not provided [RCV000977651] |
Chr10:71510233 [GRCh38] Chr10:73269990 [GRCh37] Chr10:10q22.1 |
likely benign |
GRCh37/hg19 10q22.1(chr10:73047984-73385448)x3 |
copy number gain |
not provided [RCV000847114] |
Chr10:73047984..73385448 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5611G>A (p.Ala1871Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001827361]|not provided [RCV001057890] |
Chr10:71784999 [GRCh38] Chr10:73544756 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4104+15del |
deletion |
not provided [RCV001170027] |
Chr10:71732386 [GRCh38] Chr10:73492143 [GRCh37] Chr10:10q22.1 |
pathogenic|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.9112C>A (p.Leu3038Ile) |
single nucleotide variant |
not provided [RCV001052035] |
Chr10:71811349 [GRCh38] Chr10:73571106 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022153.2(VSIR):c.20T>C (p.Leu7Pro) |
single nucleotide variant |
Retinitis pigmentosa-deafness syndrome [RCV000988382] |
Chr10:71773420 [GRCh38] Chr10:73533177 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2289+536A>T |
single nucleotide variant |
not provided [RCV000975852] |
Chr10:71694795 [GRCh38] Chr10:73454552 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2207G>A (p.Arg736Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001827345]|not provided [RCV001054802] |
Chr10:71694177 [GRCh38] Chr10:73453934 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.913del (p.Leu305fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003473795]|Usher syndrome [RCV002298910]|not provided [RCV001228251] |
Chr10:71615580 [GRCh38] Chr10:73375337 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.8065C>T (p.Leu2689Phe) |
single nucleotide variant |
not specified [RCV001195487] |
Chr10:71806168 [GRCh38] Chr10:73565925 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5443G>A (p.Ala1815Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273561]|not provided [RCV001055917] |
Chr10:71784361 [GRCh38] Chr10:73544118 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6337C>T (p.Gln2113Ter) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833785]|not provided [RCV001203167] |
Chr10:71793265 [GRCh38] Chr10:73553022 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3523G>T (p.Val1175Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835285]|not provided [RCV001246906] |
Chr10:71725464 [GRCh38] Chr10:73485221 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4643T>C (p.Val1548Ala) |
single nucleotide variant |
not provided [RCV001057110] |
Chr10:71741719 [GRCh38] Chr10:73501476 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2939C>T (p.Thr980Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835265]|not provided [RCV001246412] |
Chr10:71705116 [GRCh38] Chr10:73464873 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.11:g.(?_71645831)_(71646617_?)del |
deletion |
Usher syndrome [RCV001195420] |
Chr10:73405588..73406374 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.1606C>T (p.Arg536Trp) |
single nucleotide variant |
not provided [RCV001171769] |
Chr10:71677547 [GRCh38] Chr10:73437304 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6856G>A (p.Val2286Ile) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278280]|not provided [RCV001060782] |
Chr10:71798380 [GRCh38] Chr10:73558137 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5476C>T (p.Arg1826Trp) |
single nucleotide variant |
not provided [RCV000991777] |
Chr10:71784394 [GRCh38] Chr10:73544151 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5826T>G (p.Tyr1942Ter) |
single nucleotide variant |
not provided [RCV001052517] |
Chr10:71788945 [GRCh38] Chr10:73548702 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.6254-3_6254delinsT |
indel |
not provided [RCV001247061] |
Chr10:71793179..71793182 [GRCh38] Chr10:73552936..73552939 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001333133]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002491836]|Usher syndrome type 1 [RCV001836243]|not provided [RCV001247129] |
Chr10:71815183 [GRCh38] Chr10:73574940 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8053G>T (p.Ala2685Ser) |
single nucleotide variant |
Usher syndrome type 2 [RCV001199450] |
Chr10:71805986 [GRCh38] Chr10:73565743 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.6161A>G (p.His2054Arg) |
single nucleotide variant |
not provided [RCV001213027] |
Chr10:71791243 [GRCh38] Chr10:73551000 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4747G>T (p.Gly1583Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001331232]|Inborn genetic diseases [RCV002561108]|not provided [RCV001202914] |
Chr10:71741823 [GRCh38] Chr10:73501580 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4964T>A (p.Ile1655Asn) |
single nucleotide variant |
not provided [RCV001241913] |
Chr10:71777798 [GRCh38] Chr10:73537555 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.145+1G>T |
single nucleotide variant |
not provided [RCV001239155] |
Chr10:71446396 [GRCh38] Chr10:73206153 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.562dup (p.Thr188fs) |
duplication |
Pituitary adenoma 5, multiple types [RCV003473817]|not provided [RCV001240592] |
Chr10:71566873..71566874 [GRCh38] Chr10:73326630..73326631 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.2125A>G (p.Ile709Val) |
single nucleotide variant |
Usher syndrome type 1 [RCV001834029]|not provided [RCV001234257] |
Chr10:71690533 [GRCh38] Chr10:73450290 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.145+6T>G |
single nucleotide variant |
not provided [RCV001231713] |
Chr10:71446401 [GRCh38] Chr10:73206158 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6665G>A (p.Arg2222His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001834027]|not provided [RCV001233624] |
Chr10:71793593 [GRCh38] Chr10:73553350 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.758C>T (p.Thr253Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828893]|not provided [RCV001237867] |
Chr10:71577918 [GRCh38] Chr10:73337675 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9856C>G (p.His3286Asp) |
single nucleotide variant |
not provided [RCV001234518] |
Chr10:71815069 [GRCh38] Chr10:73574826 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3482G>A (p.Arg1161Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835143]|not provided [RCV001242901] |
Chr10:71725423 [GRCh38] Chr10:73485180 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3579+3G>A |
single nucleotide variant |
Usher syndrome type 1 [RCV001829013]|not provided [RCV001243085] |
Chr10:71725523 [GRCh38] Chr10:73485280 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7613A>G (p.Glu2538Gly) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833842]|not provided [RCV001209617] |
Chr10:71803028 [GRCh38] Chr10:73562785 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5191dup (p.Leu1731fs) |
duplication |
not provided [RCV001237907] |
Chr10:71779269..71779270 [GRCh38] Chr10:73539026..73539027 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.753+1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473818]|not provided [RCV001241220] |
Chr10:71570919 [GRCh38] Chr10:73330676 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8790G>A (p.Val2930=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828890]|not provided [RCV001237579] |
Chr10:71809887 [GRCh38] Chr10:73569644 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8465A>G (p.Asp2822Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002564057]|Usher syndrome type 1 [RCV001829019]|not provided [RCV001243192] |
Chr10:71807672 [GRCh38] Chr10:73567429 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3592G>A (p.Val1198Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835159]|not provided [RCV001243193] |
Chr10:71730481 [GRCh38] Chr10:73490238 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.628C>T (p.Gln210Ter) |
single nucleotide variant |
not provided [RCV001227226] |
Chr10:71570793 [GRCh38] Chr10:73330550 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3707G>A (p.Arg1236Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828979]|not provided [RCV001241542] |
Chr10:71730596 [GRCh38] Chr10:73490353 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1766A>T (p.Asp589Val) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835172]|not provided [RCV001243516] |
Chr10:71679400 [GRCh38] Chr10:73439157 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3730G>A (p.Val1244Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001834063]|not provided [RCV001238264] |
Chr10:71732001 [GRCh38] Chr10:73491758 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.550C>T (p.Arg184Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002563914]|Usher syndrome type 1 [RCV001834065]|not provided [RCV001238339] |
Chr10:71566862 [GRCh38] Chr10:73326619 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9430G>A (p.Ala3144Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828997]|not provided [RCV001242575] |
Chr10:71812529 [GRCh38] Chr10:73572286 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5290T>C (p.Trp1764Arg) |
single nucleotide variant |
not provided [RCV001207304] |
Chr10:71779369 [GRCh38] Chr10:73539126 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4096G>A (p.Ala1366Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828903]|not provided [RCV001238589] |
Chr10:71732367 [GRCh38] Chr10:73492124 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002491810]|Inborn genetic diseases [RCV002564045]|Usher syndrome type 1 [RCV001835142]|not provided [RCV001242828] |
Chr10:71690530 [GRCh38] Chr10:73450287 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002504345]|Usher syndrome type 1 [RCV001829003]|not provided [RCV001242830] |
Chr10:71694221 [GRCh38] Chr10:73453978 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1916_1919delinsATCCAT (p.Leu639fs) |
indel |
not provided [RCV001246728] |
Chr10:71682502..71682505 [GRCh38] Chr10:73442259..73442262 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7361C>T (p.Thr2454Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833762]|not provided [RCV001243656]|not specified [RCV001195486] |
Chr10:71799628 [GRCh38] Chr10:73559385 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2745C>G (p.Ile915Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002480744]|Usher syndrome type 1 [RCV001833949]|not provided [RCV001225564] |
Chr10:71704922 [GRCh38] Chr10:73464679 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2875G>A (p.Ala959Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003346403]|Usher syndrome type 1 [RCV001828908]|not provided [RCV001238926] |
Chr10:71705052 [GRCh38] Chr10:73464809 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9335T>C (p.Ile3112Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828910]|not provided [RCV001238930] |
Chr10:71811970 [GRCh38] Chr10:73571727 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002480802]|Usher syndrome type 1 [RCV001834140]|not provided [RCV001241074] |
Chr10:71705130 [GRCh38] Chr10:73464887 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7996A>G (p.Ile2666Val) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828964]|not provided [RCV001241005] |
Chr10:71805929 [GRCh38] Chr10:73565686 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1678A>G (p.Thr560Ala) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833761]|not provided [RCV002561037]|not specified [RCV001195484] |
Chr10:71677619 [GRCh38] Chr10:73437376 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6517G>A (p.Glu2173Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835301]|not provided [RCV001247710] |
Chr10:71793445 [GRCh38] Chr10:73553202 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3431-8C>A |
single nucleotide variant |
not provided [RCV001242363] |
Chr10:71725364 [GRCh38] Chr10:73485121 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002480664]|Usher syndrome type 1 [RCV001828639]|not provided [RCV001204395]|not specified [RCV001586045] |
Chr10:71803370 [GRCh38] Chr10:73563127 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7936G>C (p.Gly2646Arg) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835297]|not provided [RCV001247459] |
Chr10:71805869 [GRCh38] Chr10:73565626 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8220C>A (p.His2740Gln) |
single nucleotide variant |
not provided [RCV001229470] |
Chr10:71807318 [GRCh38] Chr10:73567075 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.874G>A (p.Val292Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833954]|not provided [RCV001226265] |
Chr10:71615545 [GRCh38] Chr10:73375302 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9128G>C (p.Arg3043Pro) |
single nucleotide variant |
not specified [RCV003317945] |
Chr10:71811365 [GRCh38] Chr10:73571122 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002484064]|Usher syndrome type 1 [RCV001833763]|not provided [RCV001245604]|not specified [RCV001195489] |
Chr10:71709106 [GRCh38] Chr10:73468863 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2713G>A (p.Ala905Thr) |
single nucleotide variant |
not provided [RCV001229741] |
Chr10:71702674 [GRCh38] Chr10:73462431 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107532]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002489753]|Usher syndrome type 1 [RCV001828558]|Usher syndrome type 1D [RCV001107533]|not provided [RCV001241875]|not specified [RCV002469345] |
Chr10:71740853 [GRCh38] Chr10:73500610 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8437C>T (p.Pro2813Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276054]|not provided [RCV001052835] |
Chr10:71807644 [GRCh38] Chr10:73567401 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9633+14G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108439]|Usher syndrome type 1D [RCV001108440]|not provided [RCV002069769] |
Chr10:71812904 [GRCh38] Chr10:73572661 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4356G>A (p.Gly1452=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105742]|Usher syndrome type 1D [RCV001105743]|not provided [RCV002069740] |
Chr10:71738644 [GRCh38] Chr10:73498401 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.208T>G (p.Ser70Ala) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828840]|not provided [RCV001230021] |
Chr10:71510144 [GRCh38] Chr10:73269901 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1756A>G (p.Thr586Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106297]|Usher syndrome type 1D [RCV001106298] |
Chr10:71679390 [GRCh38] Chr10:73439147 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6397G>A (p.Asp2133Asn) |
single nucleotide variant |
not provided [RCV003105069] |
Chr10:71793325 [GRCh38] Chr10:73553082 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3838A>C (p.Met1280Leu) |
single nucleotide variant |
not provided [RCV003115644] |
Chr10:71732109 [GRCh38] Chr10:73491866 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5276C>T (p.Pro1759Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003239473] |
Chr10:71779355 [GRCh38] Chr10:73539112 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3220+5G>T |
single nucleotide variant |
not provided [RCV003106269] |
Chr10:71709216 [GRCh38] Chr10:73468973 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.67+205A>G |
single nucleotide variant |
not provided [RCV001568468] |
Chr10:71440103 [GRCh38] Chr10:73199860 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5924-237C>T |
single nucleotide variant |
not provided [RCV001576626] |
Chr10:71790051 [GRCh38] Chr10:73549808 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8723-47G>A |
single nucleotide variant |
not provided [RCV001577362] |
Chr10:71809773 [GRCh38] Chr10:73569530 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.845G>A (p.Ser282Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559222]|Usher syndrome type 1D [RCV001559223] |
Chr10:71615516 [GRCh38] Chr10:73375273 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4286C>G (p.Pro1429Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559303]|Inborn genetic diseases [RCV002568390]|Usher syndrome type 1D [RCV001559304] |
Chr10:71738574 [GRCh38] Chr10:73498331 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.145+26C>T |
single nucleotide variant |
not provided [RCV001570531] |
Chr10:71446421 [GRCh38] Chr10:73206178 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.754-46A>T |
single nucleotide variant |
not provided [RCV001570760] |
Chr10:71577868 [GRCh38] Chr10:73337625 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5923+244T>A |
single nucleotide variant |
not provided [RCV001567757] |
Chr10:71789286 [GRCh38] Chr10:73549043 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8980-25C>A |
single nucleotide variant |
not provided [RCV001552490] |
Chr10:71810447 [GRCh38] Chr10:73570204 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2389G>A (p.Val797Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003251921] |
Chr10:71695517 [GRCh38] Chr10:73455274 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8891T>C (p.Ile2964Thr) |
single nucleotide variant |
not specified [RCV003317944] |
Chr10:71809988 [GRCh38] Chr10:73569745 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2290-194T>G |
single nucleotide variant |
not provided [RCV001560055] |
Chr10:71695224 [GRCh38] Chr10:73454981 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8178+316del |
deletion |
not provided [RCV001698722] |
Chr10:71806580 [GRCh38] Chr10:73566337 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.9739-270AC[7] |
microsatellite |
not provided [RCV001614999] |
Chr10:71814681..71814682 [GRCh38] Chr10:73574438..73574439 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.6086G>A (p.Arg2029Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832762]|not provided [RCV001560771] |
Chr10:71791168 [GRCh38] Chr10:73550925 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1987-123G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533698]|Usher syndrome type 1D [RCV001533697]|not provided [RCV001692459] |
Chr10:71687524 [GRCh38] Chr10:73447281 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.2060-176C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533702]|Usher syndrome type 1D [RCV001533701]|not provided [RCV001647377] |
Chr10:71690292 [GRCh38] Chr10:73450049 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.945+44C>T |
single nucleotide variant |
not provided [RCV001561074] |
Chr10:71615660 [GRCh38] Chr10:73375417 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1753-292C>T |
single nucleotide variant |
not provided [RCV001715818] |
Chr10:71679095 [GRCh38] Chr10:73438852 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2953+166C>T |
single nucleotide variant |
not provided [RCV001576606] |
Chr10:71705296 [GRCh38] Chr10:73465053 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.832+145T>G |
single nucleotide variant |
not provided [RCV001561160] |
Chr10:71578137 [GRCh38] Chr10:73337894 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2060-38G>T |
single nucleotide variant |
not provided [RCV001598816] |
Chr10:71690430 [GRCh38] Chr10:73450187 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1859-223C>T |
single nucleotide variant |
not provided [RCV001598841] |
Chr10:71682222 [GRCh38] Chr10:73441979 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.9319+66C>T |
single nucleotide variant |
not provided [RCV001591621] |
Chr10:71811819 [GRCh38] Chr10:73571576 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1153A>T (p.Met385Leu) |
single nucleotide variant |
not provided [RCV001723293] |
Chr10:71645843 [GRCh38] Chr10:73405600 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9380+111C>T |
single nucleotide variant |
not provided [RCV001659284] |
Chr10:71812126 [GRCh38] Chr10:73571883 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3106+389C>T |
single nucleotide variant |
not provided [RCV001659286] |
Chr10:71707438 [GRCh38] Chr10:73467195 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5188-57G>A |
single nucleotide variant |
not provided [RCV001681399] |
Chr10:71779210 [GRCh38] Chr10:73538967 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1858+334C>T |
single nucleotide variant |
not provided [RCV001619655] |
Chr10:71679826 [GRCh38] Chr10:73439583 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.625-244C>T |
single nucleotide variant |
not provided [RCV001687287] |
Chr10:71570546 [GRCh38] Chr10:73330303 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1449+225G>A |
single nucleotide variant |
not provided [RCV001680091] |
Chr10:71646842 [GRCh38] Chr10:73406599 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.6049+229C>T |
single nucleotide variant |
not provided [RCV001709227] |
Chr10:71790642 [GRCh38] Chr10:73550399 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.6049+210C>T |
single nucleotide variant |
not provided [RCV001551198] |
Chr10:71790623 [GRCh38] Chr10:73550380 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.67+172G>A |
single nucleotide variant |
not provided [RCV001562296] |
Chr10:71440070 [GRCh38] Chr10:73199827 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5067+39C>A |
single nucleotide variant |
not provided [RCV001562485] |
Chr10:71777940 [GRCh38] Chr10:73537697 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3580-11G>A |
single nucleotide variant |
not provided [RCV001557400] |
Chr10:71730458 [GRCh38] Chr10:73490215 [GRCh37] Chr10:10q22.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1515-177C>A |
single nucleotide variant |
not provided [RCV001687415] |
Chr10:71677279 [GRCh38] Chr10:73437036 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.6049+162C>A |
single nucleotide variant |
not provided [RCV001654493] |
Chr10:71790575 [GRCh38] Chr10:73550332 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.9319+72_9319+73insTC |
insertion |
not provided [RCV001639866] |
Chr10:71811824..71811825 [GRCh38] Chr10:73571581..73571582 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4209+334G>A |
single nucleotide variant |
not provided [RCV001577785] |
Chr10:71734992 [GRCh38] Chr10:73494749 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8064+33C>A |
single nucleotide variant |
not provided [RCV001557700] |
Chr10:71806030 [GRCh38] Chr10:73565787 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5369-239G>A |
single nucleotide variant |
not provided [RCV001563101] |
Chr10:71784048 [GRCh38] Chr10:73543805 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7054+248A>G |
single nucleotide variant |
not provided [RCV001590176] |
Chr10:71798826 [GRCh38] Chr10:73558583 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2398-269dup |
duplication |
not provided [RCV001687629] |
Chr10:71701752..71701753 [GRCh38] Chr10:73461509..73461510 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.753+313G>C |
single nucleotide variant |
not provided [RCV001548678] |
Chr10:71571231 [GRCh38] Chr10:73330988 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1753-56T>C |
single nucleotide variant |
not provided [RCV001620554] |
Chr10:71679331 [GRCh38] Chr10:73439088 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3580-240A>G |
single nucleotide variant |
not provided [RCV001620749] |
Chr10:71730229 [GRCh38] Chr10:73489986 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.6049+248G>A |
single nucleotide variant |
not provided [RCV001710660] |
Chr10:71790661 [GRCh38] Chr10:73550418 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5713-152G>T |
single nucleotide variant |
not provided [RCV001678686] |
Chr10:71785479 [GRCh38] Chr10:73545236 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4489-197G>C |
single nucleotide variant |
not provided [RCV001676909] |
Chr10:71740625 [GRCh38] Chr10:73500382 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.7362+262A>G |
single nucleotide variant |
not provided [RCV001670857] |
Chr10:71799891 [GRCh38] Chr10:73559648 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4617+63C>T |
single nucleotide variant |
not provided [RCV001694676] |
Chr10:71741013 [GRCh38] Chr10:73500770 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.6713-169A>C |
single nucleotide variant |
not provided [RCV001609839] |
Chr10:71796935 [GRCh38] Chr10:73556692 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.6047C>T (p.Thr2016Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001580655]|Usher syndrome type 1D [RCV001580654] |
Chr10:71790411 [GRCh38] Chr10:73550168 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2833G>A (p.Gly945Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559184]|Usher syndrome type 1D [RCV001559185]|not provided [RCV002032631] |
Chr10:71705010 [GRCh38] Chr10:73464767 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5953A>T (p.Ile1985Phe) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559258]|Usher syndrome type 1D [RCV001559259] |
Chr10:71790317 [GRCh38] Chr10:73550074 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9538G>T (p.Val3180Phe) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559262]|Usher syndrome type 1D [RCV001559263]|not provided [RCV002032632] |
Chr10:71812795 [GRCh38] Chr10:73572552 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2432G>A (p.Gly811Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559307]|Usher syndrome type 1D [RCV001559308] |
Chr10:71702056 [GRCh38] Chr10:73461813 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1515-333C>T |
single nucleotide variant |
not provided [RCV001695128] |
Chr10:71677123 [GRCh38] Chr10:73436880 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.8178+295_8178+296del |
microsatellite |
not provided [RCV001635644] |
Chr10:71806574..71806575 [GRCh38] Chr10:73566331..73566332 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.6147C>T (p.Leu2049=) |
single nucleotide variant |
not provided [RCV000944357] |
Chr10:71791229 [GRCh38] Chr10:73550986 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8406C>T (p.Ile2802=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276052]|not provided [RCV000899992] |
Chr10:71807613 [GRCh38] Chr10:73567370 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4095C>T (p.Asp1365=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001825822]|not provided [RCV000904887] |
Chr10:71732366 [GRCh38] Chr10:73492123 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8309-7C>T |
single nucleotide variant |
not provided [RCV000931570] |
Chr10:71807509 [GRCh38] Chr10:73567266 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5055C>T (p.Ile1685=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273553]|not provided [RCV000910549] |
Chr10:71777889 [GRCh38] Chr10:73537646 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8088G>A (p.Leu2696=) |
single nucleotide variant |
not provided [RCV000918211] |
Chr10:71806191 [GRCh38] Chr10:73565948 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5454C>T (p.Asn1818=) |
single nucleotide variant |
not provided [RCV000918308] |
Chr10:71784372 [GRCh38] Chr10:73544129 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9210C>T (p.Ile3070=) |
single nucleotide variant |
not provided [RCV000940968] |
Chr10:71811522 [GRCh38] Chr10:73571279 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.10041C>A (p.Thr3347=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272667]|not provided [RCV000931627] |
Chr10:71815254 [GRCh38] Chr10:73575011 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3153T>C (p.Val1051=) |
single nucleotide variant |
not provided [RCV000931630] |
Chr10:71709144 [GRCh38] Chr10:73468901 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8120C>T (p.Pro2707Leu) |
single nucleotide variant |
not provided [RCV000911024]|not specified [RCV001844246] |
Chr10:71806223 [GRCh38] Chr10:73565980 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002487984]|Usher syndrome type 1 [RCV001276916]|not provided [RCV000911025] |
Chr10:71806224 [GRCh38] Chr10:73565981 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.7086C>T (p.Tyr2362=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276038]|not provided [RCV000931676] |
Chr10:71799142 [GRCh38] Chr10:73558899 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.327C>T (p.Asp109=) |
single nucleotide variant |
not provided [RCV000932496] |
Chr10:71510992 [GRCh38] Chr10:73270749 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2976G>A (p.Thr992=) |
single nucleotide variant |
not provided [RCV000918454] |
Chr10:71706919 [GRCh38] Chr10:73466676 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1671C>T (p.Asn557=) |
single nucleotide variant |
not provided [RCV000932430] |
Chr10:71677612 [GRCh38] Chr10:73437369 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9459G>A (p.Pro3153=) |
single nucleotide variant |
not provided [RCV000938303] |
Chr10:71812558 [GRCh38] Chr10:73572315 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5001C>T (p.Asn1667=) |
single nucleotide variant |
not provided [RCV000907885] |
Chr10:71777835 [GRCh38] Chr10:73537592 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473524]|Usher syndrome type 1 [RCV001825705]|Usher syndrome type 1D [RCV000855416]|not provided [RCV001243157] |
Chr10:71694176 [GRCh38] Chr10:73453933 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4755C>T (p.Ile1585=) |
single nucleotide variant |
not provided [RCV000931065] |
Chr10:71741831 [GRCh38] Chr10:73501588 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6435G>A (p.Val2145=) |
single nucleotide variant |
not provided [RCV000979955] |
Chr10:71793363 [GRCh38] Chr10:73553120 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7998C>T (p.Ile2666=) |
single nucleotide variant |
not provided [RCV000979960] |
Chr10:71805931 [GRCh38] Chr10:73565688 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9001C>A (p.Arg3001=) |
single nucleotide variant |
not provided [RCV000975493] |
Chr10:71810493 [GRCh38] Chr10:73570250 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5796G>A (p.Pro1932=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275565]|not provided [RCV000931824] |
Chr10:71785714 [GRCh38] Chr10:73545471 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4758C>T (p.Ala1586=) |
single nucleotide variant |
not provided [RCV000931825] |
Chr10:71741834 [GRCh38] Chr10:73501591 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1335G>A (p.Lys445=) |
single nucleotide variant |
not provided [RCV000980114] |
Chr10:71646503 [GRCh38] Chr10:73406260 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1971C>T (p.Val657=) |
single nucleotide variant |
not provided [RCV000919598] |
Chr10:71682557 [GRCh38] Chr10:73442314 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7908C>T (p.Tyr2636=) |
single nucleotide variant |
not provided [RCV000978594] |
Chr10:71805841 [GRCh38] Chr10:73565598 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9429C>T (p.Ala3143=) |
single nucleotide variant |
not provided [RCV000978629] |
Chr10:71812528 [GRCh38] Chr10:73572285 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8304C>T (p.Ile2768=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276049]|not provided [RCV000978658] |
Chr10:71807402 [GRCh38] Chr10:73567159 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.767G>A (p.Arg256His) |
single nucleotide variant |
not provided [RCV000929857] |
Chr10:71577927 [GRCh38] Chr10:73337684 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7362+10G>A |
single nucleotide variant |
not provided [RCV000907355] |
Chr10:71799639 [GRCh38] Chr10:73559396 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3381G>T (p.Thr1127=) |
single nucleotide variant |
not provided [RCV000931970] |
Chr10:71724056 [GRCh38] Chr10:73483813 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6333G>A (p.Gly2111=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001102666]|Usher syndrome type 1 [RCV001275572]|Usher syndrome type 1D [RCV001102667]|not provided [RCV000931972] |
Chr10:71793261 [GRCh38] Chr10:73553018 [GRCh37] Chr10:10q22.1 |
benign|uncertain significance |
NM_022124.6(CDH23):c.7617T>C (p.Gly2539=) |
single nucleotide variant |
not provided [RCV000942195] |
Chr10:71803032 [GRCh38] Chr10:73562789 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2290-373G>A |
single nucleotide variant |
not provided [RCV000975873] |
Chr10:71695045 [GRCh38] Chr10:73454802 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2290-578G>A |
single nucleotide variant |
not provided [RCV000939252] |
Chr10:71694840 [GRCh38] Chr10:73454597 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5967T>C (p.Asp1989=) |
single nucleotide variant |
not provided [RCV000928658] |
Chr10:71790331 [GRCh38] Chr10:73550088 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5397G>A (p.Gly1799=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107734]|Usher syndrome type 1 [RCV001273559]|Usher syndrome type 1D [RCV001104089]|not provided [RCV000928714] |
Chr10:71784315 [GRCh38] Chr10:73544072 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9198+7G>A |
single nucleotide variant |
Usher syndrome type 1 [RCV001272663]|not provided [RCV000931302] |
Chr10:71811442 [GRCh38] Chr10:73571199 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9696G>A (p.Arg3232=) |
single nucleotide variant |
not provided [RCV000932820] |
Chr10:71813306 [GRCh38] Chr10:73573063 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5923+10G>A |
single nucleotide variant |
not provided [RCV000978235] |
Chr10:71789052 [GRCh38] Chr10:73548809 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.612G>A (p.Thr204=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275415]|not provided [RCV000978274]|not specified [RCV001699495] |
Chr10:71566924 [GRCh38] Chr10:73326681 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.1590C>G (p.Thr530=) |
single nucleotide variant |
not provided [RCV000918008] |
Chr10:71677531 [GRCh38] Chr10:73437288 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8421C>T (p.Ser2807=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276053]|not provided [RCV000921708] |
Chr10:71807628 [GRCh38] Chr10:73567385 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.324C>T (p.Ser108=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106036]|Usher syndrome type 1D [RCV001106035]|not provided [RCV000924218] |
Chr10:71510989 [GRCh38] Chr10:73270746 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3285G>C (p.Val1095=) |
single nucleotide variant |
not provided [RCV000977402] |
Chr10:71712729 [GRCh38] Chr10:73472486 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4884T>C (p.Asn1628=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273550]|not provided [RCV000932128] |
Chr10:71777718 [GRCh38] Chr10:73537475 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8485C>T (p.Leu2829=) |
single nucleotide variant |
not provided [RCV000982944] |
Chr10:71807692 [GRCh38] Chr10:73567449 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5688G>A (p.Glu1896=) |
single nucleotide variant |
not provided [RCV000899571] |
Chr10:71785076 [GRCh38] Chr10:73544833 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7938G>C (p.Gly2646=) |
single nucleotide variant |
not provided [RCV000932944] |
Chr10:71805871 [GRCh38] Chr10:73565628 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.30C>T (p.His10=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826964]|not provided [RCV000932976] |
Chr10:71439861 [GRCh38] Chr10:73199618 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6591G>A (p.Thr2197=) |
single nucleotide variant |
not provided [RCV000910898] |
Chr10:71793519 [GRCh38] Chr10:73553276 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7038G>A (p.Leu2346=) |
single nucleotide variant |
not provided [RCV000977715] |
Chr10:71798562 [GRCh38] Chr10:73558319 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5535C>T (p.Asn1845=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832171]|not provided [RCV000944227] |
Chr10:71784923 [GRCh38] Chr10:73544680 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1182C>T (p.Asn394=) |
single nucleotide variant |
not provided [RCV000929436] |
Chr10:71645872 [GRCh38] Chr10:73405629 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2535C>T (p.Pro845=) |
single nucleotide variant |
not provided [RCV000929437] |
Chr10:71702159 [GRCh38] Chr10:73461916 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002497466]|Inborn genetic diseases [RCV003259079]|Usher syndrome type 1 [RCV001827428]|not provided [RCV001066641] |
Chr10:71810529 [GRCh38] Chr10:73570286 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7899C>G (p.Tyr2633Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473770]|not provided [RCV001218303] |
Chr10:71805832 [GRCh38] Chr10:73565589 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.6689C>G (p.Ala2230Gly) |
single nucleotide variant |
Usher syndrome type 1 [RCV001836142]|not provided [RCV001207259] |
Chr10:71793617 [GRCh38] Chr10:73553374 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.288+253T>G |
single nucleotide variant |
not provided [RCV001643731] |
Chr10:71510477 [GRCh38] Chr10:73270234 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4210-1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473676]|not provided [RCV001061124] |
Chr10:71738497 [GRCh38] Chr10:73498254 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7461C>T (p.Asn2487=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105844]|Usher syndrome type 1D [RCV001105843]|not provided [RCV002556081] |
Chr10:71800734 [GRCh38] Chr10:73560491 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.6680A>C (p.Gln2227Pro) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833652]|not provided [RCV001067447] |
Chr10:71793608 [GRCh38] Chr10:73553365 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.415G>A (p.Val139Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002484354]|Usher syndrome type 1 [RCV001829928]|not provided [RCV001244368]|not specified [RCV002246230] |
Chr10:71511198 [GRCh38] Chr10:73270955 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.754-35G>T |
single nucleotide variant |
not provided [RCV001582238] |
Chr10:71577879 [GRCh38] Chr10:73337636 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1140+14T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106211]|Usher syndrome type 1D [RCV001106212]|not provided [RCV001516740] |
Chr10:71643880 [GRCh38] Chr10:73403637 [GRCh37] Chr10:10q22.1 |
benign|uncertain significance |
NM_022124.6(CDH23):c.9510+14G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106218]|Usher syndrome type 1D [RCV001106217]|not provided [RCV001452971] |
Chr10:71812623 [GRCh38] Chr10:73572380 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2289C>T (p.Thr763=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106395]|Usher syndrome type 1D [RCV001106396]|not provided [RCV001856427] |
Chr10:71694259 [GRCh38] Chr10:73454016 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.*481G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106491]|Usher syndrome type 1D [RCV001106492] |
Chr10:71815759 [GRCh38] Chr10:73575516 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.*509C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106494]|Usher syndrome type 1D [RCV001106493] |
Chr10:71815787 [GRCh38] Chr10:73575544 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4617+5G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002491736]|Usher syndrome type 1 [RCV001833993]|not provided [RCV001230309] |
Chr10:71740955 [GRCh38] Chr10:73500712 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002505656]|Usher syndrome type 1 [RCV001272906]|not provided [RCV001069034] |
Chr10:71778237 [GRCh38] Chr10:73537994 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3493C>T (p.Pro1165Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828516]|not provided [RCV001069304] |
Chr10:71725434 [GRCh38] Chr10:73485191 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5186C>T (p.Thr1729Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001836170]|not provided [RCV001222660] |
Chr10:71778307 [GRCh38] Chr10:73538064 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7847dup (p.Asn2616fs) |
duplication |
not provided [RCV001222741] |
Chr10:71803393..71803394 [GRCh38] Chr10:73563150..73563151 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7114G>A (p.Val2372Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278282]|not provided [RCV001239393] |
Chr10:71799170 [GRCh38] Chr10:73558927 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.39G>T (p.Trp13Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835152]|not provided [RCV001243056] |
Chr10:71439870 [GRCh38] Chr10:73199627 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9170G>A (p.Arg3057Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835214]|not provided [RCV001244826] |
Chr10:71811407 [GRCh38] Chr10:73571164 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.437C>T (p.Pro146Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001829942]|not provided [RCV001244897]|not specified [RCV003317466] |
Chr10:71566749 [GRCh38] Chr10:73326506 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5627G>A (p.Ser1876Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107146]|Usher syndrome type 1D [RCV001107145]|not provided [RCV001856436] |
Chr10:71785015 [GRCh38] Chr10:73544772 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6649A>G (p.Lys2217Glu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107335]|Usher syndrome type 1D [RCV001107334] |
Chr10:71793577 [GRCh38] Chr10:73553334 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4182C>T (p.Gly1394=) |
single nucleotide variant |
not provided [RCV001232015] |
Chr10:71734317 [GRCh38] Chr10:73494074 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5386C>A (p.Pro1796Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835162]|not provided [RCV001243262] |
Chr10:71784304 [GRCh38] Chr10:73544061 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.419G>A (p.Arg140His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835165]|not provided [RCV001243315]|not specified [RCV001806083] |
Chr10:71511202 [GRCh38] Chr10:73270959 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4663C>T (p.Arg1555Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001829944]|not provided [RCV001244981] |
Chr10:71741739 [GRCh38] Chr10:73501496 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.995C>T (p.Thr332Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828524]|not provided [RCV001070557] |
Chr10:71617254 [GRCh38] Chr10:73377011 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1117G>A (p.Val373Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833965]|not provided [RCV001227441] |
Chr10:71617376 [GRCh38] Chr10:73377133 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.556A>G (p.Ile186Val) |
single nucleotide variant |
not provided [RCV001227460] |
Chr10:71566868 [GRCh38] Chr10:73326625 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1699G>T (p.Val567Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001829947]|not provided [RCV001245129] |
Chr10:71677640 [GRCh38] Chr10:73437397 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5721C>A (p.Ile1907=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107809]|Usher syndrome type 1D [RCV001107808]|not provided [RCV002069762] |
Chr10:71785639 [GRCh38] Chr10:73545396 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.6253+5G>A |
single nucleotide variant |
Usher syndrome type 1 [RCV001828844]|not provided [RCV001230921] |
Chr10:71791340 [GRCh38] Chr10:73551097 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8344G>C (p.Asp2782His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001102964]|Usher syndrome type 1D [RCV001102963] |
Chr10:71807551 [GRCh38] Chr10:73567308 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.-6+13A>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108159]|Usher syndrome type 1D [RCV001108160] |
Chr10:71397331 [GRCh38] Chr10:73157088 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9116G>A (p.Arg3039Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108344]|Usher syndrome type 1D [RCV001108345]|not provided [RCV002556119] |
Chr10:71811353 [GRCh38] Chr10:73571110 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5746C>T (p.Arg1916Cys) |
single nucleotide variant |
not provided [RCV001240302] |
Chr10:71785664 [GRCh38] Chr10:73545421 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1276C>T (p.Arg426Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001829959]|not provided [RCV001245578] |
Chr10:71645966 [GRCh38] Chr10:73405723 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5132T>C (p.Val1711Ala) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278266]|not provided [RCV001245589] |
Chr10:71778253 [GRCh38] Chr10:73538010 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5683C>T (p.Arg1895Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001829961]|not provided [RCV001245595] |
Chr10:71785071 [GRCh38] Chr10:73544828 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1986+10C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103347]|Usher syndrome type 1D [RCV001103346] |
Chr10:71682582 [GRCh38] Chr10:73442339 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2038G>A (p.Val680Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103348]|Usher syndrome type 1 [RCV001833701]|Usher syndrome type 1D [RCV001103349]|not provided [RCV001245392] |
Chr10:71687698 [GRCh38] Chr10:73447455 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2909C>T (p.Ala970Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108675]|Usher syndrome type 1D [RCV001108674]|not provided [RCV002556123] |
Chr10:71705086 [GRCh38] Chr10:73464843 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8197C>T (p.Gln2733Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473736]|not provided [RCV001202755] |
Chr10:71807295 [GRCh38] Chr10:73567052 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.4396_4397delinsA (p.Ala1466fs) |
indel |
not provided [RCV001245647] |
Chr10:71739680..71739681 [GRCh38] Chr10:73499437..73499438 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.*408G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103428]|Usher syndrome type 1D [RCV001103429] |
Chr10:71815686 [GRCh38] Chr10:73575443 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7462C>T (p.Arg2488Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828628]|not provided [RCV001202949] |
Chr10:71800735 [GRCh38] Chr10:73560492 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1288G>A (p.Asp430Asn) |
single nucleotide variant |
not provided [RCV001231439] |
Chr10:71645978 [GRCh38] Chr10:73405735 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6319C>T (p.Arg2107Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473825]|not provided [RCV001243950] |
Chr10:71793247 [GRCh38] Chr10:73553004 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002497428]|Usher syndrome type 1 [RCV001275923]|not provided [RCV001056694] |
Chr10:71645903 [GRCh38] Chr10:73405660 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103916]|Pituitary adenoma 5, multiple types [RCV003473716]|Usher syndrome type 1D [RCV001103917]|not provided [RCV001241939] |
Chr10:71741838 [GRCh38] Chr10:73501595 [GRCh37] Chr10:10q22.1 |
likely pathogenic|likely benign|uncertain significance |
NM_022124.6(CDH23):c.7015G>A (p.Val2339Met) |
single nucleotide variant |
not provided [RCV001209364] |
Chr10:71798539 [GRCh38] Chr10:73558296 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6465G>A (p.Ser2155=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832516]|not provided [RCV001057248]|not specified [RCV001449744] |
Chr10:71793393 [GRCh38] Chr10:73553150 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3445A>G (p.Asn1149Asp) |
single nucleotide variant |
Hearing impairment [RCV001375322]|Usher syndrome type 1 [RCV001828692]|not provided [RCV001211824] |
Chr10:71725386 [GRCh38] Chr10:73485143 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6227T>C (p.Val2076Ala) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833892]|not provided [RCV001217631] |
Chr10:71791309 [GRCh38] Chr10:73551066 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1874G>A (p.Arg625His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002504350]|Usher syndrome type 1 [RCV001835182]|not provided [RCV001243729] |
Chr10:71682460 [GRCh38] Chr10:73442217 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7060G>T (p.Val2354Phe) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833969]|not provided [RCV001227716] |
Chr10:71799116 [GRCh38] Chr10:73558873 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7660G>A (p.Glu2554Lys) |
single nucleotide variant |
not provided [RCV001243774] |
Chr10:71803075 [GRCh38] Chr10:73562832 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1886A>T (p.Tyr629Phe) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV001196795] |
Chr10:71682472 [GRCh38] Chr10:73442229 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002479383]|Usher syndrome type 1 [RCV001272907]|not provided [RCV001065299] |
Chr10:71778238 [GRCh38] Chr10:73537995 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4190A>G (p.Lys1397Arg) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828819]|not provided [RCV001227986] |
Chr10:71734325 [GRCh38] Chr10:73494082 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs) |
deletion |
Inborn genetic diseases [RCV001267073]|Pituitary adenoma 5, multiple types [RCV003473670]|Usher syndrome type 1 [RCV001832538]|not provided [RCV001060016] |
Chr10:71741832..71741839 [GRCh38] Chr10:73501589..73501596 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.*76G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105269]|Usher syndrome type 1D [RCV001105268] |
Chr10:71815354 [GRCh38] Chr10:73575111 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2792T>C (p.Val931Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105352]|Usher syndrome type 1D [RCV001105351] |
Chr10:71704969 [GRCh38] Chr10:73464726 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4940C>T (p.Pro1647Leu) |
single nucleotide variant |
not provided [RCV001235278] |
Chr10:71777774 [GRCh38] Chr10:73537531 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1370G>A (p.Arg457Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835198]|not provided [RCV001244175] |
Chr10:71646538 [GRCh38] Chr10:73406295 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5968G>A (p.Ala1990Thr) |
single nucleotide variant |
not provided [RCV001244210] |
Chr10:71790332 [GRCh38] Chr10:73550089 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5337G>A (p.Val1779=) |
single nucleotide variant |
not provided [RCV000911190] |
Chr10:71779416 [GRCh38] Chr10:73539173 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8796T>C (p.Ile2932=) |
single nucleotide variant |
not provided [RCV000911585] |
Chr10:71809893 [GRCh38] Chr10:73569650 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9177G>C (p.Pro3059=) |
single nucleotide variant |
not provided [RCV000913657] |
Chr10:71811414 [GRCh38] Chr10:73571171 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.625-7C>G |
single nucleotide variant |
not provided [RCV000911307] |
Chr10:71570783 [GRCh38] Chr10:73330540 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6354T>C (p.Ile2118=) |
single nucleotide variant |
not provided [RCV000935172] |
Chr10:71793282 [GRCh38] Chr10:73553039 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8722+220C>A |
single nucleotide variant |
not provided [RCV001551016] |
Chr10:71808227 [GRCh38] Chr10:73567984 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6253+6C>T |
single nucleotide variant |
not provided [RCV002857934] |
Chr10:71791341 [GRCh38] Chr10:73551098 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3607G>A (p.Asp1203Asn) |
single nucleotide variant |
not provided [RCV003237037] |
Chr10:71730496 [GRCh38] Chr10:73490253 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8179-168G>A |
single nucleotide variant |
not provided [RCV001562863] |
Chr10:71807109 [GRCh38] Chr10:73566866 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3106+527G>A |
single nucleotide variant |
not provided [RCV001568110] |
Chr10:71707576 [GRCh38] Chr10:73467333 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4360-223C>A |
single nucleotide variant |
not provided [RCV001621234] |
Chr10:71739421 [GRCh38] Chr10:73499178 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.7483-117C>T |
single nucleotide variant |
not provided [RCV001661171] |
Chr10:71802781 [GRCh38] Chr10:73562538 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5563C>T (p.Pro1855Ser) |
single nucleotide variant |
not specified [RCV003230814] |
Chr10:71784951 [GRCh38] Chr10:73544708 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2290-94T>C |
single nucleotide variant |
not provided [RCV001557855] |
Chr10:71695324 [GRCh38] Chr10:73455081 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3107-26G>A |
single nucleotide variant |
not provided [RCV001563500] |
Chr10:71709072 [GRCh38] Chr10:73468829 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6830-332G>A |
single nucleotide variant |
not provided [RCV001558256] |
Chr10:71798022 [GRCh38] Chr10:73557779 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8723-1_8728del |
deletion |
not provided [RCV000994441] |
Chr10:71809816..71809822 [GRCh38] Chr10:73569573..73569579 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5713-212G>A |
single nucleotide variant |
not provided [RCV001558740] |
Chr10:71785419 [GRCh38] Chr10:73545176 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2176+199G>A |
single nucleotide variant |
not provided [RCV001560413] |
Chr10:71690783 [GRCh38] Chr10:73450540 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2587+35C>T |
single nucleotide variant |
Usher syndrome [RCV003389495]|not provided [RCV001555333] |
Chr10:71702246 [GRCh38] Chr10:73462003 [GRCh37] Chr10:10q22.1 |
likely pathogenic|likely benign |
NM_022124.6(CDH23):c.4360-94C>T |
single nucleotide variant |
not provided [RCV001576541] |
Chr10:71739550 [GRCh38] Chr10:73499307 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4105-183G>C |
single nucleotide variant |
not provided [RCV001596680] |
Chr10:71734057 [GRCh38] Chr10:73493814 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1141-198C>T |
single nucleotide variant |
not provided [RCV001569148] |
Chr10:71645633 [GRCh38] Chr10:73405390 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2290-192T>A |
single nucleotide variant |
not provided [RCV001550619] |
Chr10:71695226 [GRCh38] Chr10:73454983 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.945+145C>T |
single nucleotide variant |
not provided [RCV001569290] |
Chr10:71615761 [GRCh38] Chr10:73375518 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9937G>A (p.Glu3313Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559227]|Usher syndrome type 1D [RCV001559228]|not provided [RCV001859390] |
Chr10:71815150 [GRCh38] Chr10:73574907 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2782C>T (p.Arg928Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559229]|Usher syndrome type 1D [RCV001559230]|not provided [RCV001882648] |
Chr10:71704959 [GRCh38] Chr10:73464716 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3106+120C>T |
single nucleotide variant |
not provided [RCV001574460] |
Chr10:71707169 [GRCh38] Chr10:73466926 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9739-257_9739-228del |
deletion |
not provided [RCV001556386] |
Chr10:71814684..71814713 [GRCh38] Chr10:73574441..73574470 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9246_9247del (p.Phe3083fs) |
microsatellite |
Usher syndrome type 1D [RCV002471733]|not provided [RCV002573616] |
Chr10:71811556..71811557 [GRCh38] Chr10:73571313..73571314 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3107-201C>T |
single nucleotide variant |
not provided [RCV001592714] |
Chr10:71708897 [GRCh38] Chr10:73468654 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8723-102G>A |
single nucleotide variant |
not provided [RCV001608675] |
Chr10:71809718 [GRCh38] Chr10:73569475 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.8723-259C>T |
single nucleotide variant |
not provided [RCV001687621] |
Chr10:71809561 [GRCh38] Chr10:73569318 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.68-44T>C |
single nucleotide variant |
not provided [RCV001713599] |
Chr10:71446274 [GRCh38] Chr10:73206031 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.7362+103G>A |
single nucleotide variant |
not provided [RCV001592473] |
Chr10:71799732 [GRCh38] Chr10:73559489 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9738+260G>T |
single nucleotide variant |
not provided [RCV001621783] |
Chr10:71813608 [GRCh38] Chr10:73573365 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3370-157C>T |
single nucleotide variant |
not provided [RCV001688964] |
Chr10:71723888 [GRCh38] Chr10:73483645 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3430+186T>C |
single nucleotide variant |
not provided [RCV001656115] |
Chr10:71724291 [GRCh38] Chr10:73484048 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.8980-188T>C |
single nucleotide variant |
not provided [RCV001595775] |
Chr10:71810284 [GRCh38] Chr10:73570041 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4846-242del |
deletion |
not provided [RCV001688631] |
Chr10:71777434 [GRCh38] Chr10:73537191 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1987-24G>C |
single nucleotide variant |
not provided [RCV001594128] |
Chr10:71687623 [GRCh38] Chr10:73447380 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5068-125G>T |
single nucleotide variant |
not provided [RCV001597428] |
Chr10:71778064 [GRCh38] Chr10:73537821 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) |
deletion |
Pituitary adenoma 5, multiple types [RCV003473555]|not provided [RCV001008719] |
Chr10:71793624 [GRCh38] Chr10:73553381 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.4489-96del |
deletion |
not provided [RCV001596114] |
Chr10:71740724 [GRCh38] Chr10:73500481 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4617+42G>T |
single nucleotide variant |
not provided [RCV001643362] |
Chr10:71740992 [GRCh38] Chr10:73500749 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.430-159C>T |
single nucleotide variant |
not provided [RCV001677449] |
Chr10:71566583 [GRCh38] Chr10:73326340 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5821-241C>T |
single nucleotide variant |
not provided [RCV001617161] |
Chr10:71788699 [GRCh38] Chr10:73548456 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3820G>A (p.Glu1274Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001827524]|not provided [RCV001593418] |
Chr10:71732091 [GRCh38] Chr10:73491848 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5924-241G>A |
single nucleotide variant |
not provided [RCV001587638] |
Chr10:71790047 [GRCh38] Chr10:73549804 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3579+185C>T |
single nucleotide variant |
not provided [RCV001616854] |
Chr10:71725705 [GRCh38] Chr10:73485462 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5820+195A>T |
single nucleotide variant |
not provided [RCV001596426] |
Chr10:71785933 [GRCh38] Chr10:73545690 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2398-132T>A |
single nucleotide variant |
not provided [RCV001693745] |
Chr10:71701890 [GRCh38] Chr10:73461647 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1141-179G>A |
single nucleotide variant |
not provided [RCV001635582] |
Chr10:71645652 [GRCh38] Chr10:73405409 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3715+320G>A |
single nucleotide variant |
not provided [RCV001614695] |
Chr10:71730924 [GRCh38] Chr10:73490681 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5503-211C>G |
single nucleotide variant |
not provided [RCV001590620] |
Chr10:71784680 [GRCh38] Chr10:73544437 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9078-50G>C |
single nucleotide variant |
not provided [RCV001591535] |
Chr10:71811265 [GRCh38] Chr10:73571022 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3106+405C>T |
single nucleotide variant |
not provided [RCV001596055] |
Chr10:71707454 [GRCh38] Chr10:73467211 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2398-71T>C |
single nucleotide variant |
not provided [RCV001596062] |
Chr10:71701951 [GRCh38] Chr10:73461708 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.146-147G>A |
single nucleotide variant |
not provided [RCV001658642] |
Chr10:71509935 [GRCh38] Chr10:73269692 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4210-71C>T |
single nucleotide variant |
not provided [RCV001590846] |
Chr10:71738427 [GRCh38] Chr10:73498184 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9380+140_9380+150dup |
duplication |
not provided [RCV001635716] |
Chr10:71812144..71812145 [GRCh38] Chr10:73571901..73571902 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.832+248del |
deletion |
not provided [RCV001682358] |
Chr10:71578238 [GRCh38] Chr10:73337995 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.9739-238AC[9] |
microsatellite |
not provided [RCV001656287] |
Chr10:71814714..71814717 [GRCh38] Chr10:73574471..73574474 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4617+54C>T |
single nucleotide variant |
not provided [RCV001677222] |
Chr10:71741004 [GRCh38] Chr10:73500761 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.289-314A>C |
single nucleotide variant |
not provided [RCV001658961] |
Chr10:71510640 [GRCh38] Chr10:73270397 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.9739-270AC[8] |
microsatellite |
not provided [RCV001595292] |
Chr10:71814681..71814682 [GRCh38] Chr10:73574438..73574439 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1141-106A>T |
single nucleotide variant |
not provided [RCV001658981] |
Chr10:71645725 [GRCh38] Chr10:73405482 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.288+55C>T |
single nucleotide variant |
not provided [RCV001687272] |
Chr10:71510279 [GRCh38] Chr10:73270036 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4845+84A>G |
single nucleotide variant |
not provided [RCV001654421] |
Chr10:71742005 [GRCh38] Chr10:73501762 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.8179-256G>A |
single nucleotide variant |
not provided [RCV001595162] |
Chr10:71807021 [GRCh38] Chr10:73566778 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5187+99T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533654]|Pituitary adenoma 5, multiple types [RCV001554731]|Usher syndrome type 1D [RCV001533653]|not provided [RCV001538973] |
Chr10:71778407 [GRCh38] Chr10:73538164 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.754-217C>T |
single nucleotide variant |
not provided [RCV001636156] |
Chr10:71577697 [GRCh38] Chr10:73337454 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5689C>T (p.Arg1897Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107807]|Inborn genetic diseases [RCV002556110]|Usher syndrome type 1 [RCV001833707]|Usher syndrome type 1D [RCV001107806]|not provided [RCV001243978] |
Chr10:71785077 [GRCh38] Chr10:73544834 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7054+6T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001102758]|Usher syndrome type 1D [RCV001102759]|not provided [RCV002558026] |
Chr10:71798584 [GRCh38] Chr10:73558341 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6320G>T (p.Arg2107Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107898]|Usher syndrome type 1D [RCV001107899] |
Chr10:71793248 [GRCh38] Chr10:73553005 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8244C>T (p.Gly2748=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108164]|Usher syndrome type 1D [RCV001108163] |
Chr10:71807342 [GRCh38] Chr10:73567099 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2971G>A (p.Glu991Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272550]|not provided [RCV001066677] |
Chr10:71706914 [GRCh38] Chr10:73466671 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8672T>G (p.Phe2891Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104875]|Usher syndrome type 1D [RCV001104876] |
Chr10:71807957 [GRCh38] Chr10:73567714 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.699C>T (p.Asp233=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106127]|Usher syndrome type 1D [RCV001104973] |
Chr10:71570864 [GRCh38] Chr10:73330621 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9805C>G (p.Arg3269Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105173]|Usher syndrome type 1D [RCV001105172]|not provided [RCV002558049] |
Chr10:71815018 [GRCh38] Chr10:73574775 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4231G>A (p.Glu1411Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001836108]|not provided [RCV001067842] |
Chr10:71738519 [GRCh38] Chr10:73498276 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4687C>A (p.Leu1563Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103915]|Usher syndrome type 1D [RCV001107535] |
Chr10:71741763 [GRCh38] Chr10:73501520 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7225-11C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104676]|Usher syndrome type 1D [RCV001104677] |
Chr10:71799481 [GRCh38] Chr10:73559238 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3547C>A (p.His1183Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105556]|Usher syndrome type 1D [RCV001105555]|not provided [RCV001856418] |
Chr10:71725488 [GRCh38] Chr10:73485245 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9832G>A (p.Gly3278Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105174]|Usher syndrome type 1D [RCV001105175] |
Chr10:71815045 [GRCh38] Chr10:73574802 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3069C>T (p.Asp1023=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105451]|Usher syndrome type 1D [RCV001105452]|not provided [RCV001506803] |
Chr10:71707012 [GRCh38] Chr10:73466769 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8062A>G (p.Ser2688Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105930]|Usher syndrome type 1D [RCV001105929]|not provided [RCV001873504] |
Chr10:71805995 [GRCh38] Chr10:73565752 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9510+14G>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106220]|Usher syndrome type 1D [RCV001106219] |
Chr10:71812623 [GRCh38] Chr10:73572380 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3452G>A (p.Arg1151Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272561]|not provided [RCV001069568] |
Chr10:71725393 [GRCh38] Chr10:73485150 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.*173C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106404]|Usher syndrome type 1D [RCV001106403]|not provided [RCV001593269] |
Chr10:71815451 [GRCh38] Chr10:73575208 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.2664del (p.Thr889fs) |
deletion |
not provided [RCV001070043] |
Chr10:71702622 [GRCh38] Chr10:73462379 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7382C>T (p.Ser2461Phe) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105841]|Usher syndrome type 1 [RCV001833705]|Usher syndrome type 1D [RCV001105842]|not provided [RCV001368713] |
Chr10:71800655 [GRCh38] Chr10:73560412 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.789G>A (p.Gln263=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106130]|Usher syndrome type 1D [RCV001106129]|not provided [RCV002069750] |
Chr10:71577949 [GRCh38] Chr10:73337706 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.806G>A (p.Arg269Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106132]|Inborn genetic diseases [RCV002555041]|Usher syndrome type 1 [RCV001828553]|Usher syndrome type 1D [RCV001106131]|not provided [RCV001245939] |
Chr10:71577966 [GRCh38] Chr10:73337723 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9933G>A (p.Ser3311=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106303]|Usher syndrome type 1D [RCV001106304]|not provided [RCV001415414] |
Chr10:71815146 [GRCh38] Chr10:73574903 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8869G>A (p.Val2957Ile) |
single nucleotide variant |
Usher syndrome type 1 [RCV001276061]|not provided [RCV001056254] |
Chr10:71809966 [GRCh38] Chr10:73569723 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4897A>G (p.Met1633Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106976]|Usher syndrome type 1D [RCV001106975] |
Chr10:71777731 [GRCh38] Chr10:73537488 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6345del (p.Phe2116fs) |
deletion |
not provided [RCV001059297] |
Chr10:71793273 [GRCh38] Chr10:73553030 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8900G>A (p.Arg2967His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103059]|Usher syndrome type 1D [RCV001103058]|not provided [RCV002558032] |
Chr10:71809997 [GRCh38] Chr10:73569754 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9694C>T (p.Arg3232Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103255]|Usher syndrome type 1D [RCV001103256] |
Chr10:71813304 [GRCh38] Chr10:73573061 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.968G>A (p.Arg323His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108340]|Usher syndrome type 1D [RCV001108341]|not provided [RCV002555056] |
Chr10:71617227 [GRCh38] Chr10:73376984 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1421C>T (p.Thr474Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108434]|Usher syndrome type 1D [RCV001108433]|not provided [RCV001862870] |
Chr10:71646589 [GRCh38] Chr10:73406346 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3678G>A (p.Thr1226=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108869]|Usher syndrome type 1D [RCV001108868]|not provided [RCV001432389] |
Chr10:71730567 [GRCh38] Chr10:73490324 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2734-202C>T |
single nucleotide variant |
not provided [RCV001669001] |
Chr10:71704709 [GRCh38] Chr10:73464466 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1135-294dup |
duplication |
not provided [RCV001684186] |
Chr10:71643559..71643560 [GRCh38] Chr10:73403316..73403317 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.6253+166T>C |
single nucleotide variant |
not provided [RCV001609566] |
Chr10:71791501 [GRCh38] Chr10:73551258 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3179G>A (p.Arg1060Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832840]|not provided [RCV001665403] |
Chr10:71709170 [GRCh38] Chr10:73468927 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1134+180T>C |
single nucleotide variant |
not provided [RCV001690974] |
Chr10:71617573 [GRCh38] Chr10:73377330 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4210-53T>C |
single nucleotide variant |
not provided [RCV001645723] |
Chr10:71738445 [GRCh38] Chr10:73498202 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5188-128T>A |
single nucleotide variant |
not provided [RCV001707990] |
Chr10:71779139 [GRCh38] Chr10:73538896 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.430-219G>C |
single nucleotide variant |
not provided [RCV001651808] |
Chr10:71566523 [GRCh38] Chr10:73326280 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4136G>A (p.Arg1379His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833614]|not provided [RCV001062558] |
Chr10:71734271 [GRCh38] Chr10:73494028 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2734-47T>G |
single nucleotide variant |
not provided [RCV001585299] |
Chr10:71704864 [GRCh38] Chr10:73464621 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473549]|Usher syndrome type 1 [RCV001004342] |
Chr10:71803420 [GRCh38] Chr10:73563177 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7363-3T>G |
single nucleotide variant |
not provided [RCV001067385] |
Chr10:71800633 [GRCh38] Chr10:73560390 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7873-285C>T |
single nucleotide variant |
not provided [RCV001681897] |
Chr10:71805521 [GRCh38] Chr10:73565278 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2953+254A>T |
single nucleotide variant |
not provided [RCV001588422] |
Chr10:71705384 [GRCh38] Chr10:73465141 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-189C>G |
single nucleotide variant |
not provided [RCV001669345] |
Chr10:71725183 [GRCh38] Chr10:73484940 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.288+275C>G |
single nucleotide variant |
not provided [RCV001713955] |
Chr10:71510499 [GRCh38] Chr10:73270256 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4040C>T (p.Thr1347Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273540]|not provided [RCV001063308] |
Chr10:71732311 [GRCh38] Chr10:73492068 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4105-160C>T |
single nucleotide variant |
not provided [RCV001708578] |
Chr10:71734080 [GRCh38] Chr10:73493837 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.754-198C>T |
single nucleotide variant |
not provided [RCV001614621] |
Chr10:71577716 [GRCh38] Chr10:73337473 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4846-79G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533594]|Usher syndrome type 1D [RCV001533593]|not provided [RCV001615254] |
Chr10:71777601 [GRCh38] Chr10:73537358 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.624+64C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533637]|Pituitary adenoma 5, multiple types [RCV001554484]|Usher syndrome type 1D [RCV001533636]|not provided [RCV001692454] |
Chr10:71567000 [GRCh38] Chr10:73326757 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.2290-253A>G |
single nucleotide variant |
not provided [RCV001710298] |
Chr10:71695165 [GRCh38] Chr10:73454922 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2733+256G>T |
single nucleotide variant |
not provided [RCV001583356] |
Chr10:71702950 [GRCh38] Chr10:73462707 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1141-171T>C |
single nucleotide variant |
not provided [RCV001609626] |
Chr10:71645660 [GRCh38] Chr10:73405417 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5923+77T>C |
single nucleotide variant |
not provided [RCV001670142] |
Chr10:71789119 [GRCh38] Chr10:73548876 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1450-179G>A |
single nucleotide variant |
not provided [RCV001640862] |
Chr10:71674933 [GRCh38] Chr10:73434690 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4359+172del |
deletion |
not provided [RCV001640955] |
Chr10:71738819 [GRCh38] Chr10:73498576 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1290+132A>G |
single nucleotide variant |
not provided [RCV001667428] |
Chr10:71646112 [GRCh38] Chr10:73405869 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5713-224A>G |
single nucleotide variant |
not provided [RCV001645117] |
Chr10:71785407 [GRCh38] Chr10:73545164 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1134+113C>T |
single nucleotide variant |
not provided [RCV001616549] |
Chr10:71617506 [GRCh38] Chr10:73377263 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4489-230C>T |
single nucleotide variant |
not provided [RCV001725270] |
Chr10:71740592 [GRCh38] Chr10:73500349 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.9380+109G>A |
single nucleotide variant |
not provided [RCV001666412] |
Chr10:71812124 [GRCh38] Chr10:73571881 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2176+191C>T |
single nucleotide variant |
not provided [RCV001614671] |
Chr10:71690775 [GRCh38] Chr10:73450532 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1290+237dup |
duplication |
not provided [RCV001612567] |
Chr10:71646216..71646217 [GRCh38] Chr10:73405973..73405974 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.9739-238AC[10] |
microsatellite |
not provided [RCV001583710] |
Chr10:71814714..71814715 [GRCh38] Chr10:73574471..73574472 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5924-1G>A |
single nucleotide variant |
Usher syndrome type 1 [RCV001832521]|not provided [RCV001057883] |
Chr10:71790287 [GRCh38] Chr10:73550044 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_001164375.3(C10orf105):c.*2854C>T |
single nucleotide variant |
not provided [RCV001582192] |
Chr10:71713082 [GRCh38] Chr10:73472839 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9739-242C>T |
single nucleotide variant |
not provided [RCV001670809] |
Chr10:71814710 [GRCh38] Chr10:73574467 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5291G>T (p.Trp1764Leu) |
single nucleotide variant |
not provided [RCV001058204] |
Chr10:71779370 [GRCh38] Chr10:73539127 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4663C>G (p.Arg1555Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559174]|Usher syndrome type 1D [RCV001559175] |
Chr10:71741739 [GRCh38] Chr10:73501496 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1666G>A (p.Asp556Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559260]|Usher syndrome type 1D [RCV001559261] |
Chr10:71677607 [GRCh38] Chr10:73437364 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2290-193C>A |
single nucleotide variant |
not provided [RCV001588267] |
Chr10:71695225 [GRCh38] Chr10:73454982 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1858+79A>G |
single nucleotide variant |
not provided [RCV001680608] |
Chr10:71679571 [GRCh38] Chr10:73439328 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.289-27C>A |
single nucleotide variant |
not provided [RCV001574821] |
Chr10:71510927 [GRCh38] Chr10:73270684 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_001164375.3(C10orf105):c.*3065G>A |
single nucleotide variant |
not provided [RCV001645583] |
Chr10:71712871 [GRCh38] Chr10:73472628 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.9255C>G (p.Leu3085=) |
single nucleotide variant |
not provided [RCV001584035] |
Chr10:71811567 [GRCh38] Chr10:73571324 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.-55G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105926]|Usher syndrome type 1D [RCV001105925] |
Chr10:71397269 [GRCh38] Chr10:73157026 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6292A>G (p.Ser2098Gly) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828837]|not provided [RCV001229742] |
Chr10:71793220 [GRCh38] Chr10:73552977 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7003del (p.Leu2335fs) |
deletion |
not provided [RCV001219762] |
Chr10:71798525 [GRCh38] Chr10:73558282 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4738C>T (p.Arg1580Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833908]|not provided [RCV001219763] |
Chr10:71741814 [GRCh38] Chr10:73501571 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4105-2A>T |
single nucleotide variant |
Usher syndrome type 1 [RCV001199451] |
Chr10:71734238 [GRCh38] Chr10:73493995 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3369+1G>A |
single nucleotide variant |
Retinal dystrophy [RCV001073483] |
Chr10:71712814 [GRCh38] Chr10:73472571 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.9658del (p.Glu3220fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003473634]|not provided [RCV001048037] |
Chr10:71813267 [GRCh38] Chr10:73573024 [GRCh37] Chr10:10q22.1 |
pathogenic|uncertain significance |
NC_000010.11:g.71645832del |
deletion |
not provided [RCV001809886]|not specified [RCV001000491] |
Chr10:71645830 [GRCh38] Chr10:73405587 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.4781G>A (p.Arg1594His) |
single nucleotide variant |
CDH23-related condition [RCV003405296]|Usher syndrome type 1 [RCV001277737]|not provided [RCV001090812] |
Chr10:71741857 [GRCh38] Chr10:73501614 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6242A>G (p.Asn2081Ser) |
single nucleotide variant |
not provided [RCV001233256] |
Chr10:71791324 [GRCh38] Chr10:73551081 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.500T>C (p.Val167Ala) |
single nucleotide variant |
not provided [RCV001234787] |
Chr10:71566812 [GRCh38] Chr10:73326569 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4617+2T>C |
single nucleotide variant |
not provided [RCV001207581] |
Chr10:71740952 [GRCh38] Chr10:73500709 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2665_2668dup (p.Phe890fs) |
duplication |
not provided [RCV001220266] |
Chr10:71702625..71702626 [GRCh38] Chr10:73462382..73462383 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.6334G>A (p.Ala2112Thr) |
single nucleotide variant |
Retinal dystrophy [RCV001075024]|not provided [RCV001862589] |
Chr10:71793262 [GRCh38] Chr10:73553019 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8065-5C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105934]|Retinal dystrophy [RCV001075186]|Usher syndrome type 1 [RCV001836117]|Usher syndrome type 1D [RCV001105933]|not provided [RCV001239317] |
Chr10:71806163 [GRCh38] Chr10:73565920 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2922del (p.Lys975fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003473696]|not provided [RCV001069627] |
Chr10:71705098 [GRCh38] Chr10:73464855 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.7814A>G (p.Asn2605Ser) |
single nucleotide variant |
Hearing loss, autosomal recessive [RCV001291220]|not provided [RCV001069630] |
Chr10:71803362 [GRCh38] Chr10:73563119 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.1231A>G (p.Ile411Val) |
single nucleotide variant |
not provided [RCV001041755] |
Chr10:71645921 [GRCh38] Chr10:73405678 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1618G>A (p.Gly540Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001271847]|not provided [RCV001050096] |
Chr10:71677559 [GRCh38] Chr10:73437316 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002481892]|Usher syndrome type 1 [RCV001827251]|not provided [RCV001041905] |
Chr10:71798393 [GRCh38] Chr10:73558150 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1386_1389del (p.Gln462fs) |
microsatellite |
Pituitary adenoma 5, multiple types [RCV003473643]|not provided [RCV001050906] |
Chr10:71646548..71646551 [GRCh38] Chr10:73406305..73406308 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.7050G>A (p.Ser2350=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001102757]|Usher syndrome type 1D [RCV001102756]|not provided [RCV001456006] |
Chr10:71798574 [GRCh38] Chr10:73558331 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4267G>A (p.Asp1423Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830042]|not provided [RCV001248551] |
Chr10:71738555 [GRCh38] Chr10:73498312 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9523_9525del (p.Arg3175del) |
deletion |
not provided [RCV001234945] |
Chr10:71812780..71812782 [GRCh38] Chr10:73572537..73572539 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2791G>A (p.Val931Met) |
single nucleotide variant |
not provided [RCV001206796] |
Chr10:71704968 [GRCh38] Chr10:73464725 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3163G>A (p.Val1055Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832474]|not provided [RCV001051729] |
Chr10:71709154 [GRCh38] Chr10:73468911 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1752+2T>C |
single nucleotide variant |
not provided [RCV001213994] |
Chr10:71677695 [GRCh38] Chr10:73437452 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2255del (p.Gly752fs) |
deletion |
not provided [RCV001043589] |
Chr10:71694221 [GRCh38] Chr10:73453978 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.336+1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473739]|Usher syndrome type 1 [RCV001828631]|not provided [RCV001203166] |
Chr10:71511002 [GRCh38] Chr10:73270759 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4054G>A (p.Ala1352Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832368]|not provided [RCV001035064] |
Chr10:71732325 [GRCh38] Chr10:73492082 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.753+6del |
deletion |
not provided [RCV001044102] |
Chr10:71570924 [GRCh38] Chr10:73330681 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6539C>T (p.Thr2180Ile) |
single nucleotide variant |
not provided [RCV001044125] |
Chr10:71793467 [GRCh38] Chr10:73553224 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4210-12G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103799]|Usher syndrome type 1D [RCV001107424]|not provided [RCV002069723] |
Chr10:71738486 [GRCh38] Chr10:73498243 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2182A>G (p.Ile728Val) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275935]|not provided [RCV001044569] |
Chr10:71694152 [GRCh38] Chr10:73453909 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9489G>C (p.Trp3163Cys) |
single nucleotide variant |
not provided [RCV001233297] |
Chr10:71812588 [GRCh38] Chr10:73572345 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001580572]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002484170]|Inborn genetic diseases [RCV002561847]|Usher syndrome type 1 [RCV001828709]|Usher syndrome type 1D [RCV001580571]|not provided [RCV001214532] |
Chr10:71803397 [GRCh38] Chr10:73563154 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2803C>T (p.Arg935Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833826]|not provided [RCV001207902] |
Chr10:71704980 [GRCh38] Chr10:73464737 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5002G>A (p.Gly1668Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107630]|Inborn genetic diseases [RCV003346296]|Usher syndrome type 1 [RCV001833621]|Usher syndrome type 1D [RCV001107629]|not provided [RCV001063594] |
Chr10:71777836 [GRCh38] Chr10:73537593 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3242G>A (p.Arg1081Gln) |
single nucleotide variant |
not provided [RCV001045183] |
Chr10:71712686 [GRCh38] Chr10:73472443 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7616G>C (p.Gly2539Ala) |
single nucleotide variant |
Usher syndrome type 1 [RCV001834012]|not provided [RCV001232269] |
Chr10:71803031 [GRCh38] Chr10:73562788 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2929T>C (p.Ser977Pro) |
single nucleotide variant |
Usher syndrome type 1 [RCV001836145]|not provided [RCV001208009] |
Chr10:71705106 [GRCh38] Chr10:73464863 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8420G>A (p.Ser2807Asn) |
single nucleotide variant |
not provided [RCV001037064] |
Chr10:71807627 [GRCh38] Chr10:73567384 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3248C>T (p.Thr1083Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272557]|not provided [RCV001046321] |
Chr10:71712692 [GRCh38] Chr10:73472449 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1847A>G (p.Glu616Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001333127]|Usher syndrome type 1 [RCV001833971]|not provided [RCV001228225] |
Chr10:71679481 [GRCh38] Chr10:73439238 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002499423]|Usher syndrome type 1 [RCV001835266]|not provided [RCV001246415] |
Chr10:71741697 [GRCh38] Chr10:73501454 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3468T>G (p.Asn1156Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828704]|not provided [RCV001213546] |
Chr10:71725409 [GRCh38] Chr10:73485166 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.838A>G (p.Thr280Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003346413]|Usher syndrome type 1 [RCV001835276]|not provided [RCV001246663] |
Chr10:71615509 [GRCh38] Chr10:73375266 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6980T>A (p.Leu2327His) |
single nucleotide variant |
Hearing impairment [RCV001375226]|Usher syndrome type 1 [RCV001274907]|not provided [RCV001046611] |
Chr10:71798504 [GRCh38] Chr10:73558261 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3407G>A (p.Arg1136His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105552]|Usher syndrome type 1D [RCV001105551]|not specified [RCV001779117] |
Chr10:71724082 [GRCh38] Chr10:73483839 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6088G>C (p.Glu2030Gln) |
single nucleotide variant |
not provided [RCV001207221] |
Chr10:71791170 [GRCh38] Chr10:73550927 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.11:g.(?_71288568)_(71617480_?)dup |
duplication |
not provided [RCV001033062] |
Chr10:73048325..73377237 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8464G>A (p.Asp2822Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832393]|not provided [RCV001038983] |
Chr10:71807671 [GRCh38] Chr10:73567428 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5942T>A (p.Leu1981His) |
single nucleotide variant |
not provided [RCV001047035] |
Chr10:71790306 [GRCh38] Chr10:73550063 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.552C>T (p.Arg184=) |
single nucleotide variant |
not provided [RCV001503374]|not specified [RCV001195444] |
Chr10:71566864 [GRCh38] Chr10:73326621 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8064+13C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105931]|Usher syndrome type 1D [RCV001105932]|not provided [RCV002069745] |
Chr10:71806010 [GRCh38] Chr10:73565767 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2290-3C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106397]|Usher syndrome type 1 [RCV001828555]|Usher syndrome type 1D [RCV001106398]|not provided [RCV001239469] |
Chr10:71695415 [GRCh38] Chr10:73455172 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8737A>C (p.Ile2913Leu) |
single nucleotide variant |
not provided [RCV001036301] |
Chr10:71809834 [GRCh38] Chr10:73569591 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3106+11G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106597]|Usher syndrome type 1 [RCV001828556]|Usher syndrome type 1D [RCV001106598]|not provided [RCV001452591] |
Chr10:71707060 [GRCh38] Chr10:73466817 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.*238G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106701]|Combined PSAP deficiency [RCV001106705]|Gaucher disease due to saposin C deficiency [RCV001106702]|Krabbe disease due to saposin A deficiency [RCV001106703]|Sphingolipid activator protein 1 deficiency [RCV001106704]|Usher syndrome type 1D [RCV001106700] |
Chr10:71817203 [GRCh38] Chr10:73576960 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3220+5G>A |
single nucleotide variant |
Usher syndrome type 1 [RCV001828609]|not provided [RCV001318018]|not specified [RCV001195490] |
Chr10:71709216 [GRCh38] Chr10:73468973 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3508C>T (p.Arg1170Trp) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272562]|not provided [RCV001069819] |
Chr10:71725449 [GRCh38] Chr10:73485206 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.6435_6463del (p.Ala2146fs) |
deletion |
Retinal dystrophy [RCV001073388]|not provided [RCV001862499] |
Chr10:71793362..71793390 [GRCh38] Chr10:73553119..73553147 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.6838_6841del (p.Thr2280fs) |
deletion |
Retinal dystrophy [RCV001073389] |
Chr10:71798359..71798362 [GRCh38] Chr10:73558116..73558119 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4275G>A (p.Ala1425=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103800]|Usher syndrome type 1 [RCV001833702]|Usher syndrome type 1D [RCV001103801]|not provided [RCV001217524] |
Chr10:71738563 [GRCh38] Chr10:73498320 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5686G>C (p.Glu1896Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107805]|Usher syndrome type 1D [RCV001107804] |
Chr10:71785074 [GRCh38] Chr10:73544831 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002480446]|Inborn genetic diseases [RCV002554635]|Usher syndrome type 1 [RCV001828531]|not provided [RCV001071838] |
Chr10:71807705 [GRCh38] Chr10:73567462 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.849del (p.Phe284fs) |
deletion |
Retinal dystrophy [RCV001073776]|not provided [RCV002554676] |
Chr10:71615520 [GRCh38] Chr10:73375277 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.3883G>A (p.Gly1295Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002553052]|not provided [RCV001039131] |
Chr10:71732154 [GRCh38] Chr10:73491911 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002505534]|Pituitary adenoma 5, multiple types [RCV003473540]|Usher syndrome type 1 [RCV001002923]|not provided [RCV001869434] |
Chr10:71779390 [GRCh38] Chr10:73539147 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.8886C>A (p.Asn2962Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108256]|Usher syndrome type 1D [RCV001108257] |
Chr10:71809983 [GRCh38] Chr10:73569740 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4004T>C (p.Val1335Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002250737]|Usher syndrome type 1 [RCV001835323]|not provided [RCV001248128] |
Chr10:71732275 [GRCh38] Chr10:73492032 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3864G>T (p.Gln1288His) |
single nucleotide variant |
not provided [RCV001215352] |
Chr10:71732135 [GRCh38] Chr10:73491892 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.28C>T (p.His10Tyr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001102957]|Usher syndrome type 1D [RCV001102956]|not provided [RCV001856399] |
Chr10:71439859 [GRCh38] Chr10:73199616 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1566C>T (p.Asp522=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103254]|Usher syndrome type 1D [RCV001103253] |
Chr10:71677507 [GRCh38] Chr10:73437264 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.*247C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108608]|Usher syndrome type 1D [RCV001108609] |
Chr10:71815525 [GRCh38] Chr10:73575282 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002481875]|Inborn genetic diseases [RCV003283882]|Usher syndrome type 1 [RCV001273549]|not provided [RCV001040002] |
Chr10:71777698 [GRCh38] Chr10:73537455 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2805C>T (p.Arg935=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828859]|not provided [RCV001233545] |
Chr10:71704982 [GRCh38] Chr10:73464739 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9077+1G>A |
single nucleotide variant |
Usher syndrome type 2 [RCV001199452]|not provided [RCV001090813] |
Chr10:71810570 [GRCh38] Chr10:73570327 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002504316]|Usher syndrome type 1 [RCV001834015]|not provided [RCV001232455] |
Chr10:71646473 [GRCh38] Chr10:73406230 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.*56G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103355]|Usher syndrome type 1D [RCV001103354] |
Chr10:71815334 [GRCh38] Chr10:73575091 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2864G>A (p.Arg955His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002484371]|Usher syndrome type 1 [RCV001836239]|not provided [RCV001245940] |
Chr10:71705041 [GRCh38] Chr10:73464798 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5187G>A (p.Thr1729=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833855]|not provided [RCV001211766]|not specified [RCV003479293] |
Chr10:71778308 [GRCh38] Chr10:73538065 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8497C>T (p.Arg2833Cys) |
single nucleotide variant |
Retinal dystrophy [RCV001074841]|Usher syndrome type 1 [RCV001833688]|not provided [RCV001243038] |
Chr10:71807704 [GRCh38] Chr10:73567461 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9525dup (p.Glu3176Ter) |
duplication |
not provided [RCV001040407] |
Chr10:71812781..71812782 [GRCh38] Chr10:73572538..73572539 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4427T>C (p.Ile1476Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001827411]|not provided [RCV001064037] |
Chr10:71739711 [GRCh38] Chr10:73499468 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4700T>C (p.Ile1567Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001827415]|not provided [RCV001064337] |
Chr10:71741776 [GRCh38] Chr10:73501533 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.11:g.(?_71682445)_(71682572_?)del |
deletion |
not provided [RCV001032654] |
Chr10:73442202..73442329 [GRCh37] Chr10:10q22.1 |
pathogenic |
NC_000010.11:g.(?_71577904)_(71578002_?)del |
deletion |
not provided [RCV001032657] |
Chr10:73337661..73337759 [GRCh37] Chr10:10q22.1 |
pathogenic |
NC_000010.11:g.(?_71439832)_(71439898_?)del |
deletion |
not provided [RCV001032667] |
Chr10:73199589..73199655 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2132_2139del (p.Ile710_Tyr711insTer) |
deletion |
Retinal dystrophy [RCV001075190] |
Chr10:71690540..71690547 [GRCh38] Chr10:73450297..73450304 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.9198+2T>A |
single nucleotide variant |
Retinal dystrophy [RCV001075252] |
Chr10:71811437 [GRCh38] Chr10:73571194 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3417C>A (p.Tyr1139Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001075253] |
Chr10:71724092 [GRCh38] Chr10:73483849 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.5735G>A (p.Arg1912Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001275563]|not provided [RCV001041108] |
Chr10:71785653 [GRCh38] Chr10:73545410 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5970A>G (p.Ala1990=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104489]|Usher syndrome type 1D [RCV001104490]|not provided [RCV002069727] |
Chr10:71790334 [GRCh38] Chr10:73550091 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022153.2(VSIR):c.694C>T (p.Arg232Trp) |
single nucleotide variant |
See cases [RCV001197989] |
Chr10:71752985 [GRCh38] Chr10:73512742 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5348T>A (p.Ile1783Asn) |
single nucleotide variant |
not provided [RCV001065187] |
Chr10:71779427 [GRCh38] Chr10:73539184 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5632_5637del (p.Ala1878_Asp1879del) |
deletion |
not provided [RCV001232148] |
Chr10:71785016..71785021 [GRCh38] Chr10:73544773..73544778 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.205G>A (p.Val69Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104873]|Usher syndrome type 1 [RCV001833704]|Usher syndrome type 1D [RCV001104872]|not provided [RCV001368387] |
Chr10:71510141 [GRCh38] Chr10:73269898 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8986G>A (p.Val2996Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001104977]|Usher syndrome type 1D [RCV001104976]|not provided [RCV001856412] |
Chr10:71810478 [GRCh38] Chr10:73570235 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9916A>C (p.Lys3306Gln) |
single nucleotide variant |
not provided [RCV001246034] |
Chr10:71815129 [GRCh38] Chr10:73574886 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9337G>C (p.Asp3113His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105084]|Usher syndrome type 1D [RCV001105083] |
Chr10:71811972 [GRCh38] Chr10:73571729 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8146del (p.Asp2716fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001256636]|Pituitary adenoma 5, multiple types [RCV003473838] |
Chr10:71806249 [GRCh38] Chr10:73566006 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2334G>A (p.Trp778Ter) |
single nucleotide variant |
Hearing impairment [RCV001256676] |
Chr10:71695462 [GRCh38] Chr10:73455219 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.271C>T (p.Gln91Ter) |
single nucleotide variant |
Childhood onset hearing loss [RCV001328019]|not provided [RCV001859248] |
Chr10:71510207 [GRCh38] Chr10:73269964 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.5045C>A (p.Thr1682Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831155]|not provided [RCV001350163] |
Chr10:71777879 [GRCh38] Chr10:73537636 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5477G>A (p.Arg1826Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278269]|not provided [RCV002541679] |
Chr10:71784395 [GRCh38] Chr10:73544152 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.79C>T (p.Arg27Trp) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279014]|not provided [RCV002537826] |
Chr10:71446329 [GRCh38] Chr10:73206086 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.158C>A (p.Thr53Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279015]|Usher syndrome type 1D [RCV001535736]|not provided [RCV001326328] |
Chr10:71510094 [GRCh38] Chr10:73269851 [GRCh37] Chr10:10q22.1 |
uncertain significance|not provided |
NM_022124.6(CDH23):c.570C>G (p.Ile190Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279021] |
Chr10:71566882 [GRCh38] Chr10:73326639 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7893C>T (p.Asn2631=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279066]|not provided [RCV001485492] |
Chr10:71805826 [GRCh38] Chr10:73565583 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8317G>A (p.Glu2773Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279071]|not provided [RCV001362308] |
Chr10:71807524 [GRCh38] Chr10:73567281 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8425C>T (p.Arg2809Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279073]|not provided [RCV001871555] |
Chr10:71807632 [GRCh38] Chr10:73567389 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.662A>C (p.Asn221Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280190]|not provided [RCV002537882] |
Chr10:71570827 [GRCh38] Chr10:73330584 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1990G>A (p.Glu664Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280202]|not provided [RCV002541736] |
Chr10:71687650 [GRCh38] Chr10:73447407 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002480880]|Neurodevelopmental abnormality [RCV001264699] |
Chr10:71646507 [GRCh38] Chr10:73406264 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8840G>C (p.Gly2947Ala) |
single nucleotide variant |
not provided [RCV001889582] |
Chr10:71809937 [GRCh38] Chr10:73569694 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7399A>G (p.Lys2467Glu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835532]|not provided [RCV001312666] |
Chr10:71800672 [GRCh38] Chr10:73560429 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9739-12G>T |
single nucleotide variant |
not provided [RCV001580817] |
Chr10:71814940 [GRCh38] Chr10:73574697 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.946-24G>A |
single nucleotide variant |
not provided [RCV001527754] |
Chr10:71617181 [GRCh38] Chr10:73376938 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8948C>G (p.Thr2983Ser) |
single nucleotide variant |
not provided [RCV001294677] |
Chr10:71810045 [GRCh38] Chr10:73569802 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2560C>T (p.Arg854Cys) |
single nucleotide variant |
Childhood onset hearing loss [RCV001328025]|Usher syndrome type 1 [RCV001830391]|not provided [RCV001365703] |
Chr10:71702184 [GRCh38] Chr10:73461941 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3351A>G (p.Glu1117=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277723]|not provided [RCV001437466] |
Chr10:71712795 [GRCh38] Chr10:73472552 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4041G>C (p.Thr1347=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277728]|not provided [RCV002537769] |
Chr10:71732312 [GRCh38] Chr10:73492069 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4116A>G (p.Thr1372=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277730]|not provided [RCV001470291] |
Chr10:71734251 [GRCh38] Chr10:73494008 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4746C>T (p.Ser1582=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277735]|not provided [RCV001399299]|not specified [RCV001449790] |
Chr10:71741822 [GRCh38] Chr10:73501579 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9726del (p.Ser3243fs) |
deletion |
Childhood onset hearing loss [RCV001328022]|Inborn genetic diseases [RCV001266449]|Pituitary adenoma 5, multiple types [RCV003473844]|Usher syndrome type 1 [RCV001830068]|not provided [RCV001880118]|not specified [RCV002469367] |
Chr10:71813335 [GRCh38] Chr10:73573092 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2966A>G (p.Asn989Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV001266724] |
Chr10:71706909 [GRCh38] Chr10:73466666 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.778G>T (p.Ala260Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002493641]|Usher syndrome type 1 [RCV001830278]|not provided [RCV001313954] |
Chr10:71577938 [GRCh38] Chr10:73337695 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6718G>C (p.Val2240Leu) |
single nucleotide variant |
not provided [RCV001352342] |
Chr10:71797109 [GRCh38] Chr10:73556866 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2128A>G (p.Ile710Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002542978]|Usher syndrome type 1 [RCV001835364]|not provided [RCV001812998] |
Chr10:71690536 [GRCh38] Chr10:73450293 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1652T>G (p.Val551Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003284176]|Usher syndrome type 1 [RCV001836290]|not provided [RCV001314299] |
Chr10:71677593 [GRCh38] Chr10:73437350 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8648A>C (p.Tyr2883Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002543643]|not provided [RCV001314343] |
Chr10:71807933 [GRCh38] Chr10:73567690 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7394G>A (p.Arg2465Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835369]|not provided [RCV001288561] |
Chr10:71800667 [GRCh38] Chr10:73560424 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2003C>A (p.Pro668His) |
single nucleotide variant |
not provided [RCV001341300] |
Chr10:71687663 [GRCh38] Chr10:73447420 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3605A>G (p.Asn1202Ser) |
single nucleotide variant |
not provided [RCV001300814] |
Chr10:71730494 [GRCh38] Chr10:73490251 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7286C>A (p.Ala2429Asp) |
single nucleotide variant |
not provided [RCV001319378] |
Chr10:71799553 [GRCh38] Chr10:73559310 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.901C>A (p.Arg301=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280192] |
Chr10:71615572 [GRCh38] Chr10:73375329 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2592C>G (p.Gly864=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280211] |
Chr10:71702553 [GRCh38] Chr10:73462310 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4829G>T (p.Gly1610Val) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830438]|not provided [RCV001341499]|not specified [RCV003120569] |
Chr10:71741905 [GRCh38] Chr10:73501662 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1502A>G (p.Asp501Gly) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280197]|not provided [RCV002542948] |
Chr10:71675164 [GRCh38] Chr10:73434921 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002493502]|Usher syndrome type 1 [RCV001280208] |
Chr10:71694159 [GRCh38] Chr10:73453916 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2330C>T (p.Thr777Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280210]|not provided [RCV002537884] |
Chr10:71695458 [GRCh38] Chr10:73455215 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9870C>A (p.Gly3290=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280256]|not provided [RCV001459656] |
Chr10:71815083 [GRCh38] Chr10:73574840 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NC_000010.10:g.(?_73403618)_(73407489_?)del |
deletion |
not provided [RCV001325530] |
Chr10:73403618..73407489 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2692G>A (p.Glu898Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001825968]|not provided [RCV001350785] |
Chr10:71702653 [GRCh38] Chr10:73462410 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9980C>T (p.Ala3327Val) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835503]|not provided [RCV001307649] |
Chr10:71815193 [GRCh38] Chr10:73574950 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6212C>T (p.Pro2071Leu) |
single nucleotide variant |
not provided [RCV001319985] |
Chr10:71791294 [GRCh38] Chr10:73551051 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9691C>T (p.Gln3231Ter) |
single nucleotide variant |
not provided [RCV001883014] |
Chr10:71813301 [GRCh38] Chr10:73573058 [GRCh37] Chr10:10q22.1 |
pathogenic|uncertain significance |
NM_022124.6(CDH23):c.9437C>A (p.Ala3146Glu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830191]|not provided [RCV001302940] |
Chr10:71812536 [GRCh38] Chr10:73572293 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1700_1701del (p.Val567fs) |
deletion |
not provided [RCV001950986] |
Chr10:71677640..71677641 [GRCh38] Chr10:73437397..73437398 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.371A>G (p.Asp124Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001331231]|not provided [RCV001863239] |
Chr10:71511154 [GRCh38] Chr10:73270911 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1946C>G (p.Pro649Arg) |
single nucleotide variant |
not provided [RCV001304361] |
Chr10:71682532 [GRCh38] Chr10:73442289 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9941C>T (p.Thr3314Met) |
single nucleotide variant |
Hearing impairment [RCV001375062]|Usher syndrome type 1 [RCV001831150]|not provided [RCV001349637] |
Chr10:71815154 [GRCh38] Chr10:73574911 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1416C>A (p.Asn472Lys) |
single nucleotide variant |
not provided [RCV001314999] |
Chr10:71646584 [GRCh38] Chr10:73406341 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2786T>C (p.Met929Thr) |
single nucleotide variant |
not provided [RCV001325861] |
Chr10:71704963 [GRCh38] Chr10:73464720 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1297G>A (p.Ala433Thr) |
single nucleotide variant |
not provided [RCV001321623] |
Chr10:71646465 [GRCh38] Chr10:73406222 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9838G>A (p.Asp3280Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830378]|not provided [RCV001326101] |
Chr10:71815051 [GRCh38] Chr10:73574808 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7834G>T (p.Val2612Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001825967]|not provided [RCV001350664] |
Chr10:71803382 [GRCh38] Chr10:73563139 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1270G>A (p.Val424Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002486178]|Usher syndrome type 1 [RCV001830203]|not provided [RCV001304057] |
Chr10:71645960 [GRCh38] Chr10:73405717 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.436C>G (p.Pro146Ala) |
single nucleotide variant |
not provided [RCV001313267] |
Chr10:71566748 [GRCh38] Chr10:73326505 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9139G>A (p.Val3047Ile) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831015]|not provided [RCV001326423]|not specified [RCV002246299] |
Chr10:71811376 [GRCh38] Chr10:73571133 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6556T>A (p.Ser2186Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001836315]|not provided [RCV001326544] |
Chr10:71793484 [GRCh38] Chr10:73553241 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4180G>T (p.Gly1394Cys) |
single nucleotide variant |
not provided [RCV001352016] |
Chr10:71734315 [GRCh38] Chr10:73494072 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8G>T (p.Arg3Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830412]|not provided [RCV001339289] |
Chr10:71439839 [GRCh38] Chr10:73199596 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8007C>T (p.Ile2669=) |
single nucleotide variant |
not provided [RCV001422748] |
Chr10:71805940 [GRCh38] Chr10:73565697 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2550C>T (p.Ala850=) |
single nucleotide variant |
not provided [RCV001392381] |
Chr10:71702174 [GRCh38] Chr10:73461931 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4210-9C>T |
single nucleotide variant |
not provided [RCV001392524] |
Chr10:71738489 [GRCh38] Chr10:73498246 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5003G>A (p.Gly1668Asp) |
single nucleotide variant |
not provided [RCV001324857] |
Chr10:71777837 [GRCh38] Chr10:73537594 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1241G>A (p.Arg414Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826103]|not provided [RCV001372401] |
Chr10:71645931 [GRCh38] Chr10:73405688 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6249G>T (p.Pro2083=) |
single nucleotide variant |
not provided [RCV001394650] |
Chr10:71791331 [GRCh38] Chr10:73551088 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8568C>T (p.Ala2856=) |
single nucleotide variant |
not provided [RCV001392845] |
Chr10:71807853 [GRCh38] Chr10:73567610 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1747C>G (p.Leu583Val) |
single nucleotide variant |
not provided [RCV001306928] |
Chr10:71677688 [GRCh38] Chr10:73437445 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002486199]|Usher syndrome type 1 [RCV001835497]|not provided [RCV001306987]|not specified [RCV003226458] |
Chr10:71738537 [GRCh38] Chr10:73498294 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.513C>T (p.Phe171=) |
single nucleotide variant |
not provided [RCV001422296] |
Chr10:71566825 [GRCh38] Chr10:73326582 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5508G>A (p.Leu1836=) |
single nucleotide variant |
not provided [RCV001414286] |
Chr10:71784896 [GRCh38] Chr10:73544653 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1135-10C>G |
single nucleotide variant |
not provided [RCV001422161] |
Chr10:71643851 [GRCh38] Chr10:73403608 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs) |
duplication |
Usher syndrome [RCV003226470]|not provided [RCV001382659] |
Chr10:71779377..71779378 [GRCh38] Chr10:73539134..73539135 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.4602T>C (p.Asn1534=) |
single nucleotide variant |
not provided [RCV001414716] |
Chr10:71740935 [GRCh38] Chr10:73500692 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2086A>G (p.Thr696Ala) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826072]|not provided [RCV001368808] |
Chr10:71690494 [GRCh38] Chr10:73450251 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1743G>A (p.Val581=) |
single nucleotide variant |
not provided [RCV001414562] |
Chr10:71677684 [GRCh38] Chr10:73437441 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.554G>T (p.Gly185Val) |
single nucleotide variant |
not provided [RCV001361821] |
Chr10:71566866 [GRCh38] Chr10:73326623 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2525G>A (p.Arg842Gln) |
single nucleotide variant |
Usher syndrome type 1D [RCV001374883]|not provided [RCV002550199] |
Chr10:71702149 [GRCh38] Chr10:73461906 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7893C>A (p.Asn2631Lys) |
single nucleotide variant |
not provided [RCV001368445] |
Chr10:71805826 [GRCh38] Chr10:73565583 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5790C>T (p.Asp1930=) |
single nucleotide variant |
not provided [RCV001396794] |
Chr10:71785708 [GRCh38] Chr10:73545465 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4617+7G>A |
single nucleotide variant |
not provided [RCV001422599] |
Chr10:71740957 [GRCh38] Chr10:73500714 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2016C>G (p.Ser672Arg) |
single nucleotide variant |
not provided [RCV001358843] |
Chr10:71687676 [GRCh38] Chr10:73447433 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9339C>T (p.Asp3113=) |
single nucleotide variant |
not provided [RCV001395115] |
Chr10:71811974 [GRCh38] Chr10:73571731 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6975G>A (p.Lys2325=) |
single nucleotide variant |
not provided [RCV001396986] |
Chr10:71798499 [GRCh38] Chr10:73558256 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7518G>T (p.Arg2506=) |
single nucleotide variant |
not provided [RCV001422659] |
Chr10:71802933 [GRCh38] Chr10:73562690 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3179G>C (p.Arg1060Pro) |
single nucleotide variant |
not provided [RCV001369943] |
Chr10:71709170 [GRCh38] Chr10:73468927 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3093C>T (p.Ser1031=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277720] |
Chr10:71707036 [GRCh38] Chr10:73466793 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4519C>T (p.Arg1507Trp) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277732]|not provided [RCV001700727] |
Chr10:71740852 [GRCh38] Chr10:73500609 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4793G>A (p.Ser1598Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277738] |
Chr10:71741869 [GRCh38] Chr10:73501626 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6081T>G (p.Ile2027Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278273]|not provided [RCV001351965] |
Chr10:71791163 [GRCh38] Chr10:73550920 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6140G>A (p.Gly2047Glu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278274] |
Chr10:71791222 [GRCh38] Chr10:73550979 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7131C>T (p.Asn2377=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278283]|not provided [RCV001469818]|not specified [RCV001700729] |
Chr10:71799187 [GRCh38] Chr10:73558944 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.2982C>T (p.Thr994=) |
single nucleotide variant |
not provided [RCV001395614] |
Chr10:71706925 [GRCh38] Chr10:73466682 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4056C>T (p.Ala1352=) |
single nucleotide variant |
not provided [RCV001422308] |
Chr10:71732327 [GRCh38] Chr10:73492084 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.518C>T (p.Pro173Leu) |
single nucleotide variant |
not provided [RCV001370180] |
Chr10:71566830 [GRCh38] Chr10:73326587 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.160C>G (p.Gln54Glu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279016]|not provided [RCV001871552] |
Chr10:71510096 [GRCh38] Chr10:73269853 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.276A>G (p.Pro92=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279019]|not provided [RCV001449042] |
Chr10:71510212 [GRCh38] Chr10:73269969 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8154C>T (p.Asn2718=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279067]|not provided [RCV002537828] |
Chr10:71806257 [GRCh38] Chr10:73566014 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8225C>G (p.Pro2742Arg) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279069] |
Chr10:71807323 [GRCh38] Chr10:73567080 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9538G>A (p.Val3180Ile) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279084] |
Chr10:71812795 [GRCh38] Chr10:73572552 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9273G>A (p.Arg3091=) |
single nucleotide variant |
not provided [RCV001396806] |
Chr10:71811585 [GRCh38] Chr10:73571342 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9198+14G>A |
single nucleotide variant |
not provided [RCV001397187] |
Chr10:71811449 [GRCh38] Chr10:73571206 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7599C>G (p.Ala2533=) |
single nucleotide variant |
not provided [RCV001397423] |
Chr10:71803014 [GRCh38] Chr10:73562771 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4104+8G>C |
single nucleotide variant |
not provided [RCV001414542] |
Chr10:71732383 [GRCh38] Chr10:73492140 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9281A>T (p.His3094Leu) |
single nucleotide variant |
not provided [RCV001356918] |
Chr10:71811715 [GRCh38] Chr10:73571472 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9927C>T (p.Gly3309=) |
single nucleotide variant |
not provided [RCV001413662] |
Chr10:71815140 [GRCh38] Chr10:73574897 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5205T>C (p.Asn1735=) |
single nucleotide variant |
not provided [RCV001414606] |
Chr10:71779284 [GRCh38] Chr10:73539041 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7602T>C (p.Thr2534=) |
single nucleotide variant |
not provided [RCV001415028] |
Chr10:71803017 [GRCh38] Chr10:73562774 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8496G>A (p.Val2832=) |
single nucleotide variant |
not provided [RCV001433926] |
Chr10:71807703 [GRCh38] Chr10:73567460 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2462A>G (p.Asn821Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002547742]|Usher syndrome type 1 [RCV001831197]|not provided [RCV001360226] |
Chr10:71702086 [GRCh38] Chr10:73461843 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5392G>A (p.Glu1798Lys) |
single nucleotide variant |
not provided [RCV001360299] |
Chr10:71784310 [GRCh38] Chr10:73544067 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1733C>G (p.Thr578Arg) |
single nucleotide variant |
not provided [RCV001359048] |
Chr10:71677674 [GRCh38] Chr10:73437431 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8860G>A (p.Asp2954Asn) |
single nucleotide variant |
not provided [RCV001358555] |
Chr10:71809957 [GRCh38] Chr10:73569714 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4773G>A (p.Pro1591=) |
single nucleotide variant |
not provided [RCV001414034]|not specified [RCV002265996] |
Chr10:71741849 [GRCh38] Chr10:73501606 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2892G>A (p.Arg964=) |
single nucleotide variant |
not provided [RCV001433660] |
Chr10:71705069 [GRCh38] Chr10:73464826 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1141-4C>T |
single nucleotide variant |
not provided [RCV001415317] |
Chr10:71645827 [GRCh38] Chr10:73405584 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3523G>A (p.Val1175Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826097]|not provided [RCV001371399] |
Chr10:71725464 [GRCh38] Chr10:73485221 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6005T>C (p.Leu2002Pro) |
single nucleotide variant |
not provided [RCV001373626] |
Chr10:71790369 [GRCh38] Chr10:73550126 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7380G>C (p.Leu2460=) |
single nucleotide variant |
not provided [RCV001397299] |
Chr10:71800653 [GRCh38] Chr10:73560410 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4674G>C (p.Gly1558=) |
single nucleotide variant |
not provided [RCV001392776] |
Chr10:71741750 [GRCh38] Chr10:73501507 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4250G>A (p.Arg1417Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002543026]|Usher syndrome type 1 [RCV001830117]|not provided [RCV001294395] |
Chr10:71738538 [GRCh38] Chr10:73498295 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5335G>C (p.Val1779Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003355380]|Usher syndrome type 1 [RCV001835547]|not provided [RCV001313735] |
Chr10:71779414 [GRCh38] Chr10:73539171 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2290-114G>A |
single nucleotide variant |
not provided [RCV001536587] |
Chr10:71695304 [GRCh38] Chr10:73455061 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3072G>A (p.Val1024=) |
single nucleotide variant |
not provided [RCV001392784] |
Chr10:71707015 [GRCh38] Chr10:73466772 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1617C>T (p.Gly539=) |
single nucleotide variant |
not provided [RCV001392789] |
Chr10:71677558 [GRCh38] Chr10:73437315 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9973C>T (p.Arg3325Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835470]|not provided [RCV001304713] |
Chr10:71815186 [GRCh38] Chr10:73574943 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8282A>G (p.Asn2761Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835441]|not provided [RCV001301307] |
Chr10:71807380 [GRCh38] Chr10:73567137 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5492T>C (p.Leu1831Pro) |
single nucleotide variant |
not provided [RCV001319891] |
Chr10:71784410 [GRCh38] Chr10:73544167 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7345G>A (p.Ala2449Thr) |
single nucleotide variant |
not provided [RCV001346303] |
Chr10:71799612 [GRCh38] Chr10:73559369 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7393C>T (p.Arg2465Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559226]|Usher syndrome type 1D [RCV001374886] |
Chr10:71800666 [GRCh38] Chr10:73560423 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5989G>A (p.Val1997Met) |
single nucleotide variant |
Stickler syndrome [RCV001375067]|Usher syndrome type 1 [RCV001831274]|not provided [RCV001367306] |
Chr10:71790353 [GRCh38] Chr10:73550110 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8299T>C (p.Phe2767Leu) |
single nucleotide variant |
Hearing impairment [RCV001375321] |
Chr10:71807397 [GRCh38] Chr10:73567154 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9998A>C (p.Lys3333Thr) |
single nucleotide variant |
not provided [RCV001307300] |
Chr10:71815211 [GRCh38] Chr10:73574968 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7769C>G (p.Pro2590Arg) |
single nucleotide variant |
Usher syndrome type 1 [RCV001825874]|not provided [RCV001341982] |
Chr10:71803317 [GRCh38] Chr10:73563074 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.234T>G (p.Phe78Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001836307]|not provided [RCV001321599] |
Chr10:71510170 [GRCh38] Chr10:73269927 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4442T>C (p.Val1481Ala) |
single nucleotide variant |
not provided [RCV001322848] |
Chr10:71739726 [GRCh38] Chr10:73499483 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7994T>C (p.Ile2665Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831116]|not provided [RCV001345732] |
Chr10:71805927 [GRCh38] Chr10:73565684 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6562G>A (p.Glu2188Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002547043]|Usher syndrome type 1 [RCV001825916]|not provided [RCV001345736] |
Chr10:71793490 [GRCh38] Chr10:73553247 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3968T>C (p.Leu1323Pro) |
single nucleotide variant |
not provided [RCV001373848] |
Chr10:71732239 [GRCh38] Chr10:73491996 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.670A>G (p.Ile224Val) |
single nucleotide variant |
not provided [RCV001315602] |
Chr10:71570835 [GRCh38] Chr10:73330592 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2210A>G (p.Glu737Gly) |
single nucleotide variant |
not provided [RCV001306525] |
Chr10:71694180 [GRCh38] Chr10:73453937 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9234G>A (p.Leu3078=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831204]|not provided [RCV001360546] |
Chr10:71811546 [GRCh38] Chr10:73571303 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4391C>A (p.Ala1464Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002541835]|Usher syndrome type 1 [RCV001835394]|not provided [RCV001296030] |
Chr10:71739675 [GRCh38] Chr10:73499432 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3685A>T (p.Ile1229Phe) |
single nucleotide variant |
not provided [RCV001315768] |
Chr10:71730574 [GRCh38] Chr10:73490331 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.857T>C (p.Leu286Pro) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830969]|not provided [RCV001321895] |
Chr10:71615528 [GRCh38] Chr10:73375285 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9185T>C (p.Met3062Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001836336]|not provided [RCV001344892] |
Chr10:71811422 [GRCh38] Chr10:73571179 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6139G>A (p.Gly2047Arg) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826037]|not provided [RCV001365102] |
Chr10:71791221 [GRCh38] Chr10:73550978 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3176A>T (p.Asp1059Val) |
single nucleotide variant |
Childhood onset hearing loss [RCV001328017] |
Chr10:71709167 [GRCh38] Chr10:73468924 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2536G>A (p.Asp846Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002538433]|Usher syndrome type 1 [RCV001835382]|not provided [RCV001294300] |
Chr10:71702160 [GRCh38] Chr10:73461917 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1978G>A (p.Glu660Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280201]|not provided [RCV002537883] |
Chr10:71682564 [GRCh38] Chr10:73442321 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2059+10C>T |
single nucleotide variant |
Usher syndrome type 1 [RCV001280203]|not provided [RCV001441499] |
Chr10:71687729 [GRCh38] Chr10:73447486 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2170C>G (p.Arg724Gly) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280207] |
Chr10:71690578 [GRCh38] Chr10:73450335 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2715G>A (p.Ala905=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280212]|not provided [RCV002541737] |
Chr10:71702676 [GRCh38] Chr10:73462433 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8572G>A (p.Asp2858Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831082]|not provided [RCV001342325] |
Chr10:71807857 [GRCh38] Chr10:73567614 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1837A>G (p.Ser613Gly) |
single nucleotide variant |
not provided [RCV001343951] |
Chr10:71679471 [GRCh38] Chr10:73439228 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9115C>T (p.Arg3039Trp) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831211]|not provided [RCV001361041] |
Chr10:71811352 [GRCh38] Chr10:73571109 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7807G>A (p.Asp2603Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830133]|not provided [RCV001296134] |
Chr10:71803355 [GRCh38] Chr10:73563112 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9865A>G (p.Thr3289Ala) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831314]|not provided [RCV001372229] |
Chr10:71815078 [GRCh38] Chr10:73574835 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4978C>T (p.Leu1660=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278263] |
Chr10:71777812 [GRCh38] Chr10:73537569 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5004C>T (p.Gly1668=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278264] |
Chr10:71777838 [GRCh38] Chr10:73537595 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5719A>T (p.Ile1907Phe) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278271] |
Chr10:71785637 [GRCh38] Chr10:73545394 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002486027]|Usher syndrome type 1 [RCV001277722]|not provided [RCV002537768] |
Chr10:71712774 [GRCh38] Chr10:73472531 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3467A>G (p.Asn1156Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277724]|not provided [RCV001880237] |
Chr10:71725408 [GRCh38] Chr10:73485165 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5187+4G>A |
single nucleotide variant |
Usher syndrome type 1 [RCV001278267] |
Chr10:71778312 [GRCh38] Chr10:73538069 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5668A>T (p.Ile1890Phe) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278270]|not specified [RCV001449711] |
Chr10:71785056 [GRCh38] Chr10:73544813 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8479C>T (p.Leu2827Phe) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279075] |
Chr10:71807686 [GRCh38] Chr10:73567443 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1129G>A (p.Asp377Asn) |
single nucleotide variant |
Hearing impairment [RCV001375457] |
Chr10:71617388 [GRCh38] Chr10:73377145 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1484T>G (p.Val495Gly) |
single nucleotide variant |
Hearing impairment [RCV001375458] |
Chr10:71675146 [GRCh38] Chr10:73434903 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.190C>T (p.Pro64Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279017]|not provided [RCV001871553] |
Chr10:71510126 [GRCh38] Chr10:73269883 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.255C>T (p.Gly85=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279018]|not provided [RCV003120522] |
Chr10:71510191 [GRCh38] Chr10:73269948 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8570C>T (p.Thr2857Ile) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279076] |
Chr10:71807855 [GRCh38] Chr10:73567612 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002486049]|Usher syndrome type 1 [RCV001279079]|not provided [RCV001360549] |
Chr10:71810054 [GRCh38] Chr10:73569811 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9806G>A (p.Arg3269His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279086]|not provided [RCV001871559] |
Chr10:71815019 [GRCh38] Chr10:73574776 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4240A>C (p.Asn1414His) |
single nucleotide variant |
not provided [RCV001372410] |
Chr10:71738528 [GRCh38] Chr10:73498285 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002499485]|Usher syndrome type 1 [RCV001280257]|not provided [RCV001486455] |
Chr10:71815098 [GRCh38] Chr10:73574855 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.523T>C (p.Ser175Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003284218]|Usher syndrome type 1 [RCV001831051]|not provided [RCV001339018] |
Chr10:71566835 [GRCh38] Chr10:73326592 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2092C>A (p.Leu698Met) |
single nucleotide variant |
not provided [RCV001361679] |
Chr10:71690500 [GRCh38] Chr10:73450257 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2368A>G (p.Met790Val) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831239]|not provided [RCV001363394] |
Chr10:71695496 [GRCh38] Chr10:73455253 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8146G>A (p.Asp2716Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835398]|not provided [RCV001296372] |
Chr10:71806249 [GRCh38] Chr10:73566006 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV003155398]|Pituitary adenoma 5, multiple types [RCV003473868]|not provided [RCV001339975] |
Chr10:71706902 [GRCh38] Chr10:73466659 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.41T>C (p.Leu14Pro) |
single nucleotide variant |
not provided [RCV001345300] |
Chr10:71439872 [GRCh38] Chr10:73199629 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8308+4G>C |
single nucleotide variant |
Usher syndrome type 1 [RCV001836257]|not provided [RCV001294655] |
Chr10:71807410 [GRCh38] Chr10:73567167 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2719G>T (p.Val907Phe) |
single nucleotide variant |
not provided [RCV001341415] |
Chr10:71702680 [GRCh38] Chr10:73462437 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3832A>C (p.Ser1278Arg) |
single nucleotide variant |
not provided [RCV001341416] |
Chr10:71732103 [GRCh38] Chr10:73491860 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1516T>C (p.Phe506Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001836304]|not provided [RCV001320909] |
Chr10:71677457 [GRCh38] Chr10:73437214 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2801C>G (p.Pro934Arg) |
single nucleotide variant |
not provided [RCV001320911] |
Chr10:71704978 [GRCh38] Chr10:73464735 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2319C>G (p.Asp773Glu) |
single nucleotide variant |
not provided [RCV001344319] |
Chr10:71695447 [GRCh38] Chr10:73455204 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4873G>A (p.Val1625Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835400]|not provided [RCV001296503] |
Chr10:71777707 [GRCh38] Chr10:73537464 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9311G>T (p.Gly3104Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003346501]|Usher syndrome type 1 [RCV001825911]|not provided [RCV001345426] |
Chr10:71811745 [GRCh38] Chr10:73571502 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8113A>G (p.Met2705Val) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830377]|not provided [RCV001325988] |
Chr10:71806216 [GRCh38] Chr10:73565973 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3472C>A (p.Leu1158Ile) |
single nucleotide variant |
not provided [RCV001327043] |
Chr10:71725413 [GRCh38] Chr10:73485170 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1636C>T (p.Arg546Trp) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831048]|not provided [RCV001338438] |
Chr10:71677577 [GRCh38] Chr10:73437334 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8228G>A (p.Arg2743His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830439]|not provided [RCV001341500] |
Chr10:71807326 [GRCh38] Chr10:73567083 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8979+4C>T |
single nucleotide variant |
Usher syndrome type 1 [RCV001830980]|not provided [RCV001323587] |
Chr10:71810080 [GRCh38] Chr10:73569837 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7978del (p.Asp2660fs) |
deletion |
Usher syndrome type 1D [RCV001374880] |
Chr10:71805909 [GRCh38] Chr10:73565666 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4739G>A (p.Arg1580His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001836375]|not provided [RCV001370819] |
Chr10:71741815 [GRCh38] Chr10:73501572 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1250T>A (p.Ile417Asn) |
single nucleotide variant |
not provided [RCV001309159] |
Chr10:71645940 [GRCh38] Chr10:73405697 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8384G>A (p.Arg2795Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830252]|not provided [RCV001309198] |
Chr10:71807591 [GRCh38] Chr10:73567348 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4435G>A (p.Val1479Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001825913]|not provided [RCV001345523] |
Chr10:71739719 [GRCh38] Chr10:73499476 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1858G>A (p.Val620Met) |
single nucleotide variant |
not provided [RCV001345528] |
Chr10:71679492 [GRCh38] Chr10:73439249 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7937G>A (p.Gly2646Glu) |
single nucleotide variant |
not provided [RCV001363863] |
Chr10:71805870 [GRCh38] Chr10:73565627 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9526G>A (p.Glu3176Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002547820]|Usher syndrome type 1 [RCV001826030]|not provided [RCV001364431] |
Chr10:71812783 [GRCh38] Chr10:73572540 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7494A>T (p.Gln2498His) |
single nucleotide variant |
not provided [RCV001339565] |
Chr10:71802909 [GRCh38] Chr10:73562666 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6340G>A (p.Asp2114Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830276]|not provided [RCV001313832] |
Chr10:71793268 [GRCh38] Chr10:73553025 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3226G>C (p.Gly1076Arg) |
single nucleotide variant |
not provided [RCV001311710] |
Chr10:71712670 [GRCh38] Chr10:73472427 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5676G>A (p.Ala1892=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835500]|not provided [RCV001307256] |
Chr10:71785064 [GRCh38] Chr10:73544821 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5060G>A (p.Arg1687Lys) |
single nucleotide variant |
not provided [RCV001317598] |
Chr10:71777894 [GRCh38] Chr10:73537651 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3143G>A (p.Arg1048His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831162]|not provided [RCV001350786] |
Chr10:71709134 [GRCh38] Chr10:73468891 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8443C>T (p.Arg2815Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830160]|not provided [RCV001299306] |
Chr10:71807650 [GRCh38] Chr10:73567407 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3112A>G (p.Asn1038Asp) |
single nucleotide variant |
not provided [RCV001366323] |
Chr10:71709103 [GRCh38] Chr10:73468860 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8565G>A (p.Val2855=) |
single nucleotide variant |
not provided [RCV001395814] |
Chr10:71807850 [GRCh38] Chr10:73567607 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1744C>T (p.Arg582Trp) |
single nucleotide variant |
not provided [RCV001296009] |
Chr10:71677685 [GRCh38] Chr10:73437442 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2788_2808dup (p.Pro930_Met936dup) |
duplication |
not provided [RCV001326391] |
Chr10:71704957..71704958 [GRCh38] Chr10:73464714..73464715 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6959C>T (p.Ala2320Val) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835559]|not provided [RCV001315601] |
Chr10:71798483 [GRCh38] Chr10:73558240 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6286G>A (p.Glu2096Lys) |
single nucleotide variant |
not provided [RCV001366603] |
Chr10:71793214 [GRCh38] Chr10:73552971 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7314G>A (p.Glu2438=) |
single nucleotide variant |
not provided [RCV001421779] |
Chr10:71799581 [GRCh38] Chr10:73559338 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8058G>A (p.Val2686=) |
single nucleotide variant |
not provided [RCV001395494] |
Chr10:71805991 [GRCh38] Chr10:73565748 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9634G>T (p.Gly3212Cys) |
single nucleotide variant |
not provided [RCV001309289] |
Chr10:71813244 [GRCh38] Chr10:73573001 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9444T>C (p.His3148=) |
single nucleotide variant |
not provided [RCV001412481] |
Chr10:71812543 [GRCh38] Chr10:73572300 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1141-12C>T |
single nucleotide variant |
Usher syndrome type 1 [RCV001280193]|not provided [RCV002069478] |
Chr10:71645819 [GRCh38] Chr10:73405576 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.1141-3C>T |
single nucleotide variant |
Usher syndrome type 1 [RCV001280194]|not provided [RCV002541735] |
Chr10:71645828 [GRCh38] Chr10:73405585 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1342A>T (p.Ile448Phe) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280196]|not provided [RCV002307720] |
Chr10:71646510 [GRCh38] Chr10:73406267 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1699G>A (p.Val567Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002486070]|Usher syndrome type 1 [RCV001280199]|not provided [RCV001871596] |
Chr10:71677640 [GRCh38] Chr10:73437397 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1936G>A (p.Ala646Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280200] |
Chr10:71682522 [GRCh38] Chr10:73442279 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2162T>A (p.Ile721Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280205] |
Chr10:71690570 [GRCh38] Chr10:73450327 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7143C>T (p.Pro2381=) |
single nucleotide variant |
not provided [RCV001412512] |
Chr10:71799199 [GRCh38] Chr10:73558956 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5091G>A (p.Glu1697=) |
single nucleotide variant |
not provided [RCV001413275] |
Chr10:71778212 [GRCh38] Chr10:73537969 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1134+26G>A |
single nucleotide variant |
not specified [RCV001449709] |
Chr10:71617419 [GRCh38] Chr10:73377176 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2008A>T (p.Thr670Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826272]|not provided [RCV001865915]|not specified [RCV001449710] |
Chr10:71687668 [GRCh38] Chr10:73447425 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9336C>A (p.Ile3112=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001836354]|not provided [RCV001351421] |
Chr10:71811971 [GRCh38] Chr10:73571728 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4729C>T (p.Arg1577Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277734]|not provided [RCV002537770] |
Chr10:71741805 [GRCh38] Chr10:73501562 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6375C>A (p.Ile2125=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278278] |
Chr10:71793303 [GRCh38] Chr10:73553060 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7022C>G (p.Pro2341Arg) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278281] |
Chr10:71798546 [GRCh38] Chr10:73558303 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4601A>G (p.Asn1534Ser) |
single nucleotide variant |
not provided [RCV001338597] |
Chr10:71740934 [GRCh38] Chr10:73500691 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3021C>T (p.Asp1007=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277719]|not provided [RCV001409589] |
Chr10:71706964 [GRCh38] Chr10:73466721 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3695A>G (p.Gln1232Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003353270]|Usher syndrome type 1 [RCV001277726]|not provided [RCV001880238] |
Chr10:71730584 [GRCh38] Chr10:73490341 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4543G>T (p.Val1515Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277733]|not provided [RCV002541665] |
Chr10:71740876 [GRCh38] Chr10:73500633 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6320G>A (p.Arg2107Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278275]|not provided [RCV001880254] |
Chr10:71793248 [GRCh38] Chr10:73553005 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002480898]|Usher syndrome type 1 [RCV001278279]|not provided [RCV001306159] |
Chr10:71797199 [GRCh38] Chr10:73556956 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7581G>A (p.Ser2527=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001278286]|not provided [RCV001400839] |
Chr10:71802996 [GRCh38] Chr10:73562753 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3591C>T (p.Tyr1197=) |
single nucleotide variant |
not provided [RCV001412364] |
Chr10:71730480 [GRCh38] Chr10:73490237 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3215C>A (p.Ala1072Asp) |
single nucleotide variant |
Hearing impairment [RCV001375050] |
Chr10:71709206 [GRCh38] Chr10:73468963 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.833G>A (p.Gly278Glu) |
single nucleotide variant |
Hearing impairment [RCV001375128]|not provided [RCV002550205] |
Chr10:71615504 [GRCh38] Chr10:73375261 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.42T>C (p.Leu14=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279013]|not provided [RCV001396003] |
Chr10:71439873 [GRCh38] Chr10:73199630 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.7873-4A>G |
single nucleotide variant |
Usher syndrome type 1 [RCV001279065] |
Chr10:71805802 [GRCh38] Chr10:73565559 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002493488]|Usher syndrome type 1 [RCV001279072]|not provided [RCV001577123] |
Chr10:71807551 [GRCh38] Chr10:73567308 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.8784C>T (p.Phe2928=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279077]|not provided [RCV001398082] |
Chr10:71809881 [GRCh38] Chr10:73569638 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.8693C>A (p.Ser2898Tyr) |
single nucleotide variant |
Usher syndrome type 1D [RCV001374888] |
Chr10:71807978 [GRCh38] Chr10:73567735 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7838G>A (p.Arg2613His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001279064] |
Chr10:71803386 [GRCh38] Chr10:73563143 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6427A>C (p.Thr2143Pro) |
single nucleotide variant |
not provided [RCV001367253] |
Chr10:71793355 [GRCh38] Chr10:73553112 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2159G>A (p.Arg720Gln) |
single nucleotide variant |
Hearing impairment [RCV001375422]|not provided [RCV002305604] |
Chr10:71690567 [GRCh38] Chr10:73450324 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.625-10G>A |
single nucleotide variant |
Usher syndrome type 1 [RCV001280189]|not provided [RCV002069477] |
Chr10:71570780 [GRCh38] Chr10:73330537 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2163C>T (p.Ile721=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001280206]|not provided [RCV001414500] |
Chr10:71690571 [GRCh38] Chr10:73450328 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002504410]|Usher syndrome type 1 [RCV001280258]|not provided [RCV001871598] |
Chr10:71815168 [GRCh38] Chr10:73574925 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1964T>C (p.Val655Ala) |
single nucleotide variant |
not provided [RCV001316669] |
Chr10:71682550 [GRCh38] Chr10:73442307 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4608T>C (p.Ser1536=) |
single nucleotide variant |
not provided [RCV001421441] |
Chr10:71740941 [GRCh38] Chr10:73500698 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2597C>T (p.Pro866Leu) |
single nucleotide variant |
not provided [RCV001339046] |
Chr10:71702558 [GRCh38] Chr10:73462315 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6546C>T (p.Ser2182=) |
single nucleotide variant |
Hearing impairment [RCV001375203]|not provided [RCV001476594] |
Chr10:71793474 [GRCh38] Chr10:73553231 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9191C>T (p.Ala3064Val) |
single nucleotide variant |
not provided [RCV001371941] |
Chr10:71811428 [GRCh38] Chr10:73571185 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4125C>T (p.Gly1375=) |
single nucleotide variant |
not provided [RCV001412810] |
Chr10:71734260 [GRCh38] Chr10:73494017 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5924-9C>T |
single nucleotide variant |
not provided [RCV001395891] |
Chr10:71790279 [GRCh38] Chr10:73550036 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7426T>A (p.Leu2476Met) |
single nucleotide variant |
not provided [RCV001355475] |
Chr10:71800699 [GRCh38] Chr10:73560456 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5113G>A (p.Gly1705Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001333128]|not provided [RCV001865777] |
Chr10:71778234 [GRCh38] Chr10:73537991 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5622G>C (p.Leu1874=) |
single nucleotide variant |
not provided [RCV001396362] |
Chr10:71785010 [GRCh38] Chr10:73544767 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7872+1G>A |
single nucleotide variant |
Childhood onset hearing loss [RCV001328018] |
Chr10:71803421 [GRCh38] Chr10:73563178 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3024G>A (p.Val1008=) |
single nucleotide variant |
not provided [RCV001396049] |
Chr10:71706967 [GRCh38] Chr10:73466724 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7938G>A (p.Gly2646=) |
single nucleotide variant |
not provided [RCV001421458] |
Chr10:71805871 [GRCh38] Chr10:73565628 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9292C>T (p.Leu3098Phe) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831262]|not provided [RCV001365706] |
Chr10:71811726 [GRCh38] Chr10:73571483 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.621C>T (p.Ala207=) |
single nucleotide variant |
not provided [RCV001421742] |
Chr10:71566933 [GRCh38] Chr10:73326690 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1974C>T (p.Thr658=) |
single nucleotide variant |
not provided [RCV001421749] |
Chr10:71682560 [GRCh38] Chr10:73442317 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2176+7C>A |
single nucleotide variant |
not provided [RCV001413190] |
Chr10:71690591 [GRCh38] Chr10:73450348 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2031C>T (p.Phe677=) |
single nucleotide variant |
not provided [RCV001395463] |
Chr10:71687691 [GRCh38] Chr10:73447448 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4044C>T (p.Tyr1348=) |
single nucleotide variant |
not provided [RCV001395529] |
Chr10:71732315 [GRCh38] Chr10:73492072 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1449G>C (p.Leu483=) |
single nucleotide variant |
not provided [RCV001350658] |
Chr10:71646617 [GRCh38] Chr10:73406374 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7657G>A (p.Val2553Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002543180]|Usher syndrome type 1 [RCV001835493]|not provided [RCV001306852] |
Chr10:71803072 [GRCh38] Chr10:73562829 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9897C>T (p.Ser3299=) |
single nucleotide variant |
not provided [RCV001482138] |
Chr10:71815110 [GRCh38] Chr10:73574867 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3852G>C (p.Ser1284=) |
single nucleotide variant |
not provided [RCV001485281] |
Chr10:71732123 [GRCh38] Chr10:73491880 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3573C>T (p.Ser1191=) |
single nucleotide variant |
not provided [RCV001468076] |
Chr10:71725514 [GRCh38] Chr10:73485271 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9945G>A (p.Leu3315=) |
single nucleotide variant |
not provided [RCV001424572] |
Chr10:71815158 [GRCh38] Chr10:73574915 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8343_8346dup (p.Gly2783fs) |
duplication |
not provided [RCV001389377] |
Chr10:71807549..71807550 [GRCh38] Chr10:73567306..73567307 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.9600G>A (p.Lys3200=) |
single nucleotide variant |
not provided [RCV001416492] |
Chr10:71812857 [GRCh38] Chr10:73572614 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2502C>T (p.Arg834=) |
single nucleotide variant |
not provided [RCV001490302] |
Chr10:71702126 [GRCh38] Chr10:73461883 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9943C>T (p.Leu3315=) |
single nucleotide variant |
not provided [RCV001485423] |
Chr10:71815156 [GRCh38] Chr10:73574913 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1635C>A (p.Gly545=) |
single nucleotide variant |
not provided [RCV001495393] |
Chr10:71677576 [GRCh38] Chr10:73437333 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8106C>G (p.Tyr2702Ter) |
single nucleotide variant |
not provided [RCV001382322] |
Chr10:71806209 [GRCh38] Chr10:73565966 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2511C>T (p.His837=) |
single nucleotide variant |
not provided [RCV001441051] |
Chr10:71702135 [GRCh38] Chr10:73461892 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6174C>T (p.Thr2058=) |
single nucleotide variant |
not provided [RCV001435430] |
Chr10:71791256 [GRCh38] Chr10:73551013 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9849T>C (p.His3283=) |
single nucleotide variant |
not provided [RCV001394202] |
Chr10:71815062 [GRCh38] Chr10:73574819 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5713-5C>T |
single nucleotide variant |
not provided [RCV001457022] |
Chr10:71785626 [GRCh38] Chr10:73545383 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6178C>T (p.Leu2060=) |
single nucleotide variant |
not provided [RCV001457034] |
Chr10:71791260 [GRCh38] Chr10:73551017 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9077+10G>A |
single nucleotide variant |
not provided [RCV001464274] |
Chr10:71810579 [GRCh38] Chr10:73570336 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4824C>T (p.Asp1608=) |
single nucleotide variant |
not provided [RCV001492361] |
Chr10:71741900 [GRCh38] Chr10:73501657 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.477C>T (p.Pro159=) |
single nucleotide variant |
not provided [RCV001475172] |
Chr10:71566789 [GRCh38] Chr10:73326546 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7863C>T (p.His2621=) |
single nucleotide variant |
not provided [RCV001468331] |
Chr10:71803411 [GRCh38] Chr10:73563168 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4846-19G>A |
single nucleotide variant |
not provided [RCV001417125] |
Chr10:71777661 [GRCh38] Chr10:73537418 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3870G>A (p.Pro1290=) |
single nucleotide variant |
not provided [RCV001427886] |
Chr10:71732141 [GRCh38] Chr10:73491898 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2587+11C>T |
single nucleotide variant |
not provided [RCV001438658] |
Chr10:71702222 [GRCh38] Chr10:73461979 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-9T>C |
single nucleotide variant |
not provided [RCV001427946] |
Chr10:71725363 [GRCh38] Chr10:73485120 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.600C>T (p.Ala200=) |
single nucleotide variant |
not provided [RCV001453943] |
Chr10:71566912 [GRCh38] Chr10:73326669 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4617+10G>T |
single nucleotide variant |
not provided [RCV001453963] |
Chr10:71740960 [GRCh38] Chr10:73500717 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1447C>T (p.Leu483=) |
single nucleotide variant |
not provided [RCV001416892] |
Chr10:71646615 [GRCh38] Chr10:73406372 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5924-2A>C |
single nucleotide variant |
not provided [RCV001377825] |
Chr10:71790286 [GRCh38] Chr10:73550043 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8352T>C (p.Cys2784=) |
single nucleotide variant |
not provided [RCV001451385] |
Chr10:71807559 [GRCh38] Chr10:73567316 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8838C>T (p.Ile2946=) |
single nucleotide variant |
not provided [RCV001436030] |
Chr10:71809935 [GRCh38] Chr10:73569692 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6396C>T (p.Ile2132=) |
single nucleotide variant |
not provided [RCV001417375] |
Chr10:71793324 [GRCh38] Chr10:73553081 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.777C>T (p.Thr259=) |
single nucleotide variant |
not provided [RCV001404912] |
Chr10:71577937 [GRCh38] Chr10:73337694 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.946-5C>T |
single nucleotide variant |
not provided [RCV001464778] |
Chr10:71617200 [GRCh38] Chr10:73376957 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8979+18C>T |
single nucleotide variant |
not provided [RCV001467215] |
Chr10:71810094 [GRCh38] Chr10:73569851 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6387T>C (p.Asn2129=) |
single nucleotide variant |
not provided [RCV001490783] |
Chr10:71793315 [GRCh38] Chr10:73553072 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.543C>T (p.Asp181=) |
single nucleotide variant |
not provided [RCV001473537] |
Chr10:71566855 [GRCh38] Chr10:73326612 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6309G>A (p.Glu2103=) |
single nucleotide variant |
not provided [RCV001490789] |
Chr10:71793237 [GRCh38] Chr10:73552994 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9726C>T (p.Ser3242=) |
single nucleotide variant |
not provided [RCV001490812] |
Chr10:71813336 [GRCh38] Chr10:73573093 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.864C>T (p.Tyr288=) |
single nucleotide variant |
not provided [RCV001492458] |
Chr10:71615535 [GRCh38] Chr10:73375292 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9411T>C (p.Cys3137=) |
single nucleotide variant |
not provided [RCV001475293] |
Chr10:71812510 [GRCh38] Chr10:73572267 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8880C>T (p.Val2960=) |
single nucleotide variant |
not provided [RCV001499919] |
Chr10:71809977 [GRCh38] Chr10:73569734 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.786C>T (p.Asp262=) |
single nucleotide variant |
not provided [RCV001465615] |
Chr10:71577946 [GRCh38] Chr10:73337703 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.447G>A (p.Thr149=) |
single nucleotide variant |
not provided [RCV001485925] |
Chr10:71566759 [GRCh38] Chr10:73326516 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7483-7C>T |
single nucleotide variant |
not provided [RCV001438803] |
Chr10:71802891 [GRCh38] Chr10:73562648 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7002C>T (p.Thr2334=) |
single nucleotide variant |
not provided [RCV001478807] |
Chr10:71798526 [GRCh38] Chr10:73558283 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5821-15T>C |
single nucleotide variant |
not provided [RCV001454316] |
Chr10:71788925 [GRCh38] Chr10:73548682 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5923+9T>C |
single nucleotide variant |
not provided [RCV001502495] |
Chr10:71789051 [GRCh38] Chr10:73548808 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8112T>C (p.Thr2704=) |
single nucleotide variant |
not provided [RCV001464988] |
Chr10:71806215 [GRCh38] Chr10:73565972 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8028T>C (p.Ala2676=) |
single nucleotide variant |
not provided [RCV001470764] |
Chr10:71805961 [GRCh38] Chr10:73565718 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4422C>T (p.Asp1474=) |
single nucleotide variant |
not provided [RCV001491089] |
Chr10:71739706 [GRCh38] Chr10:73499463 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9399G>A (p.Leu3133=) |
single nucleotide variant |
not provided [RCV001491094] |
Chr10:71812498 [GRCh38] Chr10:73572255 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8308+10G>A |
single nucleotide variant |
not provided [RCV001491115] |
Chr10:71807416 [GRCh38] Chr10:73567173 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7449T>C (p.Asp2483=) |
single nucleotide variant |
not provided [RCV001475372] |
Chr10:71800722 [GRCh38] Chr10:73560479 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9477C>T (p.Ile3159=) |
single nucleotide variant |
not provided [RCV001458895] |
Chr10:71812576 [GRCh38] Chr10:73572333 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8628C>A (p.Gly2876=) |
single nucleotide variant |
not provided [RCV001451861] |
Chr10:71807913 [GRCh38] Chr10:73567670 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3162C>T (p.Thr1054=) |
single nucleotide variant |
not provided [RCV001462705] |
Chr10:71709153 [GRCh38] Chr10:73468910 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.429+10A>C |
single nucleotide variant |
not provided [RCV001455417] |
Chr10:71511222 [GRCh38] Chr10:73270979 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4893G>T (p.Ala1631=) |
single nucleotide variant |
not provided [RCV001506413] |
Chr10:71777727 [GRCh38] Chr10:73537484 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2583T>G (p.Thr861=) |
single nucleotide variant |
not provided [RCV001465194] |
Chr10:71702207 [GRCh38] Chr10:73461964 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4359+10C>T |
single nucleotide variant |
not provided [RCV001484865] |
Chr10:71738657 [GRCh38] Chr10:73498414 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5463C>A (p.Ile1821=) |
single nucleotide variant |
not provided [RCV001484942] |
Chr10:71784381 [GRCh38] Chr10:73544138 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4389C>T (p.Ile1463=) |
single nucleotide variant |
not provided [RCV001473960] |
Chr10:71739673 [GRCh38] Chr10:73499430 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6654C>T (p.Asp2218=) |
single nucleotide variant |
not provided [RCV001459183] |
Chr10:71793582 [GRCh38] Chr10:73553339 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2229C>T (p.Ile743=) |
single nucleotide variant |
not provided [RCV001425790] |
Chr10:71694199 [GRCh38] Chr10:73453956 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1596G>A (p.Thr532=) |
single nucleotide variant |
not provided [RCV001428388] |
Chr10:71677537 [GRCh38] Chr10:73437294 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9254del (p.Leu3085fs) |
deletion |
not provided [RCV001380819] |
Chr10:71811566 [GRCh38] Chr10:73571323 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.6253+8G>A |
single nucleotide variant |
not provided [RCV001441850] |
Chr10:71791343 [GRCh38] Chr10:73551100 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4041G>A (p.Thr1347=) |
single nucleotide variant |
not provided [RCV001461874] |
Chr10:71732312 [GRCh38] Chr10:73492069 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3753C>T (p.Gly1251=) |
single nucleotide variant |
not provided [RCV001457971] |
Chr10:71732024 [GRCh38] Chr10:73491781 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4360-5C>G |
single nucleotide variant |
not provided [RCV001465202] |
Chr10:71739639 [GRCh38] Chr10:73499396 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7305A>G (p.Ala2435=) |
single nucleotide variant |
not provided [RCV001458089] |
Chr10:71799572 [GRCh38] Chr10:73559329 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2397+17C>T |
single nucleotide variant |
not provided [RCV001467750] |
Chr10:71695542 [GRCh38] Chr10:73455299 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3993G>A (p.Glu1331=) |
single nucleotide variant |
not provided [RCV001505295] |
Chr10:71732264 [GRCh38] Chr10:73492021 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3528G>C (p.Leu1176=) |
single nucleotide variant |
not provided [RCV001462909] |
Chr10:71725469 [GRCh38] Chr10:73485226 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2925G>A (p.Lys975=) |
single nucleotide variant |
not provided [RCV001503546] |
Chr10:71705102 [GRCh38] Chr10:73464859 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8709G>A (p.Gln2903=) |
single nucleotide variant |
not provided [RCV001466080] |
Chr10:71807994 [GRCh38] Chr10:73567751 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4104+9C>T |
single nucleotide variant |
not provided [RCV001469092] |
Chr10:71732384 [GRCh38] Chr10:73492141 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7245G>A (p.Val2415=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826308]|not provided [RCV001476646] |
Chr10:71799512 [GRCh38] Chr10:73559269 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9567G>A (p.Arg3189=) |
single nucleotide variant |
not provided [RCV001439246] |
Chr10:71812824 [GRCh38] Chr10:73572581 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9423G>A (p.Glu3141=) |
single nucleotide variant |
not provided [RCV001439262] |
Chr10:71812522 [GRCh38] Chr10:73572279 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.762G>A (p.Thr254=) |
single nucleotide variant |
not provided [RCV001403028] |
Chr10:71577922 [GRCh38] Chr10:73337679 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4552C>T (p.Leu1518=) |
single nucleotide variant |
not provided [RCV001479392] |
Chr10:71740885 [GRCh38] Chr10:73500642 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9426G>A (p.Leu3142=) |
single nucleotide variant |
not provided [RCV001455411] |
Chr10:71812525 [GRCh38] Chr10:73572282 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.67+19G>A |
single nucleotide variant |
not provided [RCV001520413] |
Chr10:71439917 [GRCh38] Chr10:73199674 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.963T>C (p.Asp321=) |
single nucleotide variant |
not provided [RCV001503058] |
Chr10:71617222 [GRCh38] Chr10:73376979 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8561-4G>A |
single nucleotide variant |
not provided [RCV001465584] |
Chr10:71807842 [GRCh38] Chr10:73567599 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4105-4G>A |
single nucleotide variant |
not provided [RCV001471717] |
Chr10:71734236 [GRCh38] Chr10:73493993 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1416C>T (p.Asn472=) |
single nucleotide variant |
not provided [RCV001491514] |
Chr10:71646584 [GRCh38] Chr10:73406341 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6306G>A (p.Gly2102=) |
single nucleotide variant |
not provided [RCV001475657] |
Chr10:71793234 [GRCh38] Chr10:73552991 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1872T>C (p.Ser624=) |
single nucleotide variant |
not provided [RCV001492834] |
Chr10:71682458 [GRCh38] Chr10:73442215 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9048C>T (p.Arg3016=) |
single nucleotide variant |
not provided [RCV001497228] |
Chr10:71810540 [GRCh38] Chr10:73570297 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5706T>C (p.Asn1902=) |
single nucleotide variant |
not provided [RCV001500690] |
Chr10:71785094 [GRCh38] Chr10:73544851 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9634-4C>G |
single nucleotide variant |
not provided [RCV001503934] |
Chr10:71813240 [GRCh38] Chr10:73572997 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9921C>T (p.Gly3307=) |
single nucleotide variant |
not provided [RCV001506899] |
Chr10:71815134 [GRCh38] Chr10:73574891 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3106+7C>T |
single nucleotide variant |
not provided [RCV001462341] |
Chr10:71707056 [GRCh38] Chr10:73466813 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.807G>T (p.Arg269=) |
single nucleotide variant |
not provided [RCV001462392] |
Chr10:71577967 [GRCh38] Chr10:73337724 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4618-5C>T |
single nucleotide variant |
not provided [RCV001455661] |
Chr10:71741689 [GRCh38] Chr10:73501446 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9837C>T (p.Pro3279=) |
single nucleotide variant |
not provided [RCV001480211] |
Chr10:71815050 [GRCh38] Chr10:73574807 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1650T>C (p.Asn550=) |
single nucleotide variant |
not provided [RCV001489059] |
Chr10:71677591 [GRCh38] Chr10:73437348 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8898C>T (p.Asp2966=) |
single nucleotide variant |
not provided [RCV001471790] |
Chr10:71809995 [GRCh38] Chr10:73569752 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6645G>T (p.Val2215=) |
single nucleotide variant |
not provided [RCV001491617] |
Chr10:71793573 [GRCh38] Chr10:73553330 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5369-5C>A |
single nucleotide variant |
not provided [RCV001491638] |
Chr10:71784282 [GRCh38] Chr10:73544039 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8235C>T (p.Thr2745=) |
single nucleotide variant |
not provided [RCV001452729] |
Chr10:71807333 [GRCh38] Chr10:73567090 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1641C>G (p.Val547=) |
single nucleotide variant |
not provided [RCV001463354] |
Chr10:71677582 [GRCh38] Chr10:73437339 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4846-13C>A |
single nucleotide variant |
not provided [RCV001504228] |
Chr10:71777667 [GRCh38] Chr10:73537424 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4536C>A (p.Ile1512=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831463]|not provided [RCV001418492] |
Chr10:71740869 [GRCh38] Chr10:73500626 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1752+1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473916]|not provided [RCV001379125] |
Chr10:71677694 [GRCh38] Chr10:73437451 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3015C>T (p.Ser1005=) |
single nucleotide variant |
not provided [RCV001439708] |
Chr10:71706958 [GRCh38] Chr10:73466715 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1698C>T (p.Tyr566=) |
single nucleotide variant |
not provided [RCV001442309] |
Chr10:71677639 [GRCh38] Chr10:73437396 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.227_233dup (p.Phe78fs) |
duplication |
not provided [RCV001390687] |
Chr10:71510162..71510163 [GRCh38] Chr10:73269919..73269920 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1446_1447insTT (p.Leu483fs) |
insertion |
not provided [RCV001390688] |
Chr10:71646614..71646615 [GRCh38] Chr10:73406371..73406372 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.146-9C>T |
single nucleotide variant |
not provided [RCV001397710] |
Chr10:71510073 [GRCh38] Chr10:73269830 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6712+9G>A |
single nucleotide variant |
not provided [RCV001434201] |
Chr10:71793649 [GRCh38] Chr10:73553406 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8958T>C (p.Ile2986=) |
single nucleotide variant |
not provided [RCV001397753] |
Chr10:71810055 [GRCh38] Chr10:73569812 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2904T>C (p.Ser968=) |
single nucleotide variant |
not provided [RCV001455770] |
Chr10:71705081 [GRCh38] Chr10:73464838 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8877C>A (p.Ile2959=) |
single nucleotide variant |
not provided [RCV001483197] |
Chr10:71809974 [GRCh38] Chr10:73569731 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2664C>G (p.Pro888=) |
single nucleotide variant |
not provided [RCV001492917] |
Chr10:71702625 [GRCh38] Chr10:73462382 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8124G>T (p.Leu2708=) |
single nucleotide variant |
not provided [RCV001492951] |
Chr10:71806227 [GRCh38] Chr10:73565984 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3208C>T (p.Leu1070=) |
single nucleotide variant |
not provided [RCV001475782] |
Chr10:71709199 [GRCh38] Chr10:73468956 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9855G>A (p.Val3285=) |
single nucleotide variant |
not provided [RCV001475783] |
Chr10:71815068 [GRCh38] Chr10:73574825 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1449+435C>T |
single nucleotide variant |
not provided [RCV001539419] |
Chr10:71647052 [GRCh38] Chr10:73406809 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2268C>T (p.Asn756=) |
single nucleotide variant |
not provided [RCV001504269] |
Chr10:71694238 [GRCh38] Chr10:73453995 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6039C>T (p.Asn2013=) |
single nucleotide variant |
not provided [RCV001486864] |
Chr10:71790403 [GRCh38] Chr10:73550160 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3024G>T (p.Val1008=) |
single nucleotide variant |
not provided [RCV001392887] |
Chr10:71706967 [GRCh38] Chr10:73466724 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2568C>T (p.Ile856=) |
single nucleotide variant |
not provided [RCV001439899] |
Chr10:71702192 [GRCh38] Chr10:73461949 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3867C>T (p.Ala1289=) |
single nucleotide variant |
not provided [RCV001442443] |
Chr10:71732138 [GRCh38] Chr10:73491895 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9278+8T>A |
single nucleotide variant |
not provided [RCV001406099] |
Chr10:71811598 [GRCh38] Chr10:73571355 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1920G>A (p.Thr640=) |
single nucleotide variant |
not provided [RCV001485807] |
Chr10:71682506 [GRCh38] Chr10:73442263 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2679G>A (p.Leu893=) |
single nucleotide variant |
not provided [RCV001472088] |
Chr10:71702640 [GRCh38] Chr10:73462397 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5092C>T (p.Leu1698=) |
single nucleotide variant |
not provided [RCV001489432] |
Chr10:71778213 [GRCh38] Chr10:73537970 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.645T>A (p.Pro215=) |
single nucleotide variant |
not provided [RCV001472165] |
Chr10:71570810 [GRCh38] Chr10:73330567 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1104A>T (p.Pro368=) |
single nucleotide variant |
not provided [RCV001475812] |
Chr10:71617363 [GRCh38] Chr10:73377120 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7005G>A (p.Leu2335=) |
single nucleotide variant |
not provided [RCV001463841] |
Chr10:71798529 [GRCh38] Chr10:73558286 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7872+10C>T |
single nucleotide variant |
not provided [RCV001481198] |
Chr10:71803430 [GRCh38] Chr10:73563187 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9408C>T (p.Phe3136=) |
single nucleotide variant |
not provided [RCV001470271] |
Chr10:71812507 [GRCh38] Chr10:73572264 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4149C>T (p.Asp1383=) |
single nucleotide variant |
not provided [RCV001437525] |
Chr10:71734284 [GRCh38] Chr10:73494041 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8520C>T (p.Asn2840=) |
single nucleotide variant |
not provided [RCV001442712] |
Chr10:71807727 [GRCh38] Chr10:73567484 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9138C>T (p.Asn3046=) |
single nucleotide variant |
not provided [RCV001493252] |
Chr10:71811375 [GRCh38] Chr10:73571132 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9627A>G (p.Pro3209=) |
single nucleotide variant |
not provided [RCV001498240] |
Chr10:71812884 [GRCh38] Chr10:73572641 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3267C>T (p.Phe1089=) |
single nucleotide variant |
not provided [RCV001481435] |
Chr10:71712711 [GRCh38] Chr10:73472468 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2289+15C>T |
single nucleotide variant |
not provided [RCV001470418] |
Chr10:71694274 [GRCh38] Chr10:73454031 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3660G>A (p.Glu1220=) |
single nucleotide variant |
not provided [RCV001393364] |
Chr10:71730549 [GRCh38] Chr10:73490306 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4452C>G (p.Pro1484=) |
single nucleotide variant |
not provided [RCV001426801] |
Chr10:71739736 [GRCh38] Chr10:73499493 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6792C>T (p.Ala2264=) |
single nucleotide variant |
not provided [RCV001406212] |
Chr10:71797183 [GRCh38] Chr10:73556940 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8286G>C (p.Ala2762=) |
single nucleotide variant |
not provided [RCV001434744] |
Chr10:71807384 [GRCh38] Chr10:73567141 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6939C>A (p.Thr2313=) |
single nucleotide variant |
not provided [RCV001464204] |
Chr10:71798463 [GRCh38] Chr10:73558220 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9525T>C (p.Arg3175=) |
single nucleotide variant |
not provided [RCV001424071] |
Chr10:71812782 [GRCh38] Chr10:73572539 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8082C>T (p.Ser2694=) |
single nucleotide variant |
not provided [RCV001437870] |
Chr10:71806185 [GRCh38] Chr10:73565942 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2954-4G>T |
single nucleotide variant |
not provided [RCV001424055] |
Chr10:71706893 [GRCh38] Chr10:73466650 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6015C>G (p.Ala2005=) |
single nucleotide variant |
not provided [RCV001463732] |
Chr10:71790379 [GRCh38] Chr10:73550136 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6447G>A (p.Arg2149=) |
single nucleotide variant |
not provided [RCV001463808] |
Chr10:71793375 [GRCh38] Chr10:73553132 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.909C>T (p.Asn303=) |
single nucleotide variant |
not provided [RCV001493595] |
Chr10:71615580 [GRCh38] Chr10:73375337 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6153C>T (p.Ser2051=) |
single nucleotide variant |
not provided [RCV001514460] |
Chr10:71791235 [GRCh38] Chr10:73550992 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3687C>T (p.Ile1229=) |
single nucleotide variant |
not provided [RCV001484906] |
Chr10:71730576 [GRCh38] Chr10:73490333 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7536C>T (p.Pro2512=) |
single nucleotide variant |
not provided [RCV001488526] |
Chr10:71802951 [GRCh38] Chr10:73562708 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8055G>A (p.Ala2685=) |
single nucleotide variant |
not provided [RCV001471287] |
Chr10:71805988 [GRCh38] Chr10:73565745 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1389A>G (p.Pro463=) |
single nucleotide variant |
not provided [RCV001488562] |
Chr10:71646557 [GRCh38] Chr10:73406314 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2916G>A (p.Thr972=) |
single nucleotide variant |
not provided [RCV001434994] |
Chr10:71705093 [GRCh38] Chr10:73464850 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9789G>A (p.Gln3263=) |
single nucleotide variant |
not provided [RCV001437994] |
Chr10:71815002 [GRCh38] Chr10:73574759 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9048C>A (p.Arg3016=) |
single nucleotide variant |
not provided [RCV001497690] |
Chr10:71810540 [GRCh38] Chr10:73570297 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2100C>T (p.Arg700=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559182]|Usher syndrome type 1D [RCV001559183]|not provided [RCV001481187] |
Chr10:71690508 [GRCh38] Chr10:73450265 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.6735C>G (p.Pro2245=) |
single nucleotide variant |
not provided [RCV001472689] |
Chr10:71797126 [GRCh38] Chr10:73556883 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.509C>G (p.Ser170Cys) |
single nucleotide variant |
not provided [RCV001492053] |
Chr10:71566821 [GRCh38] Chr10:73326578 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6712+7G>T |
single nucleotide variant |
not provided [RCV001474888] |
Chr10:71793647 [GRCh38] Chr10:73553404 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9447G>A (p.Glu3149=) |
single nucleotide variant |
not provided [RCV001474889] |
Chr10:71812546 [GRCh38] Chr10:73572303 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9948C>T (p.Thr3316=) |
single nucleotide variant |
not provided [RCV001493700] |
Chr10:71815161 [GRCh38] Chr10:73574918 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8172G>A (p.Arg2724=) |
single nucleotide variant |
not provided [RCV001493716] |
Chr10:71806275 [GRCh38] Chr10:73566032 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2262C>T (p.Gly754=) |
single nucleotide variant |
not provided [RCV001478755] |
Chr10:71694232 [GRCh38] Chr10:73453989 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9603G>A (p.Leu3201=) |
single nucleotide variant |
not provided [RCV001488693] |
Chr10:71812860 [GRCh38] Chr10:73572617 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9199-4G>A |
single nucleotide variant |
not provided [RCV001460496]|not specified [RCV003323885] |
Chr10:71811507 [GRCh38] Chr10:73571264 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.1269C>T (p.Thr423=) |
single nucleotide variant |
not provided [RCV001394111] |
Chr10:71645959 [GRCh38] Chr10:73405716 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5201del (p.Val1734fs) |
deletion |
not provided [RCV001382136] |
Chr10:71779280 [GRCh38] Chr10:73539037 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7483-10A>G |
single nucleotide variant |
not provided [RCV001417172] |
Chr10:71802888 [GRCh38] Chr10:73562645 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.146-6C>T |
single nucleotide variant |
not provided [RCV001420050] |
Chr10:71510076 [GRCh38] Chr10:73269833 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9174G>A (p.Leu3058=) |
single nucleotide variant |
not provided [RCV001420061] |
Chr10:71811411 [GRCh38] Chr10:73571168 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5592C>T (p.Ser1864=) |
single nucleotide variant |
not provided [RCV001402252] |
Chr10:71784980 [GRCh38] Chr10:73544737 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.945+7C>G |
single nucleotide variant |
not provided [RCV001438704] |
Chr10:71615623 [GRCh38] Chr10:73375380 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1081G>T (p.Ala361Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002251011] |
Chr10:71617340 [GRCh38] Chr10:73377097 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.222C>T (p.Ala74=) |
single nucleotide variant |
not provided [RCV001416852] |
Chr10:71510158 [GRCh38] Chr10:73269915 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6301_6302dup (p.Asn2101fs) |
duplication |
not provided [RCV001386046] |
Chr10:71793228..71793229 [GRCh38] Chr10:73552985..73552986 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2349C>G (p.Tyr783Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473923]|not provided [RCV001380244] |
Chr10:71695477 [GRCh38] Chr10:73455234 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_001164375.3(C10orf105):c.*3112G>A |
single nucleotide variant |
not provided [RCV001439543] |
Chr10:71712824 [GRCh38] Chr10:73472581 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2490G>A (p.Thr830=) |
single nucleotide variant |
not provided [RCV001417256] |
Chr10:71702114 [GRCh38] Chr10:73461871 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4962C>T (p.Leu1654=) |
single nucleotide variant |
not provided [RCV001441072] |
Chr10:71777796 [GRCh38] Chr10:73537553 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6516C>T (p.Pro2172=) |
single nucleotide variant |
not provided [RCV001443792] |
Chr10:71793444 [GRCh38] Chr10:73553201 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6870G>T (p.Thr2290=) |
single nucleotide variant |
not provided [RCV001446400] |
Chr10:71798394 [GRCh38] Chr10:73558151 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6279C>T (p.Ala2093=) |
single nucleotide variant |
not provided [RCV001435629] |
Chr10:71793207 [GRCh38] Chr10:73552964 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7921G>A (p.Asp2641Asn) |
single nucleotide variant |
not provided [RCV001384786] |
Chr10:71805854 [GRCh38] Chr10:73565611 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2719dup (p.Val907fs) |
duplication |
not provided [RCV001384792] |
Chr10:71702675..71702676 [GRCh38] Chr10:73462432..73462433 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4053C>T (p.Asn1351=) |
single nucleotide variant |
not provided [RCV001440944] |
Chr10:71732324 [GRCh38] Chr10:73492081 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2289+9G>A |
single nucleotide variant |
not provided [RCV001407028] |
Chr10:71694268 [GRCh38] Chr10:73454025 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9380+9G>A |
single nucleotide variant |
not provided [RCV001409620] |
Chr10:71812024 [GRCh38] Chr10:73571781 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8907C>G (p.Arg2969=) |
single nucleotide variant |
not provided [RCV001412024] |
Chr10:71810004 [GRCh38] Chr10:73569761 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.337-5G>C |
single nucleotide variant |
not provided [RCV001425376] |
Chr10:71511115 [GRCh38] Chr10:73270872 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2436C>T (p.Thr812=) |
single nucleotide variant |
not provided [RCV001446422] |
Chr10:71702060 [GRCh38] Chr10:73461817 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9078-7C>T |
single nucleotide variant |
not provided [RCV001415577] |
Chr10:71811308 [GRCh38] Chr10:73571065 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8949T>G (p.Thr2983=) |
single nucleotide variant |
not provided [RCV001397801] |
Chr10:71810046 [GRCh38] Chr10:73569803 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3606C>T (p.Asn1202=) |
single nucleotide variant |
not provided [RCV001424859] |
Chr10:71730495 [GRCh38] Chr10:73490252 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3261C>T (p.Thr1087=) |
single nucleotide variant |
not provided [RCV001399278] |
Chr10:71712705 [GRCh38] Chr10:73472462 [GRCh37] Chr10:10q22.1 |
likely benign |
NC_000010.10:g.(?_73544034)_(73556987_?)del |
deletion |
not provided [RCV001379255] |
Chr10:73544034..73556987 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.2073G>A (p.Leu691=) |
single nucleotide variant |
not provided [RCV001418677] |
Chr10:71690481 [GRCh38] Chr10:73450238 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6549G>T (p.Val2183=) |
single nucleotide variant |
not provided [RCV001439685] |
Chr10:71793477 [GRCh38] Chr10:73553234 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7881G>A (p.Pro2627=) |
single nucleotide variant |
not provided [RCV001430282] |
Chr10:71805814 [GRCh38] Chr10:73565571 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.10011G>A (p.Leu3337=) |
single nucleotide variant |
not provided [RCV001407132] |
Chr10:71815224 [GRCh38] Chr10:73574981 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1135-5G>A |
single nucleotide variant |
not provided [RCV001436547] |
Chr10:71643856 [GRCh38] Chr10:73403613 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1830C>T (p.Phe610=) |
single nucleotide variant |
not provided [RCV001446704] |
Chr10:71679464 [GRCh38] Chr10:73439221 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8106C>T (p.Tyr2702=) |
single nucleotide variant |
not provided [RCV001399380] |
Chr10:71806209 [GRCh38] Chr10:73565966 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2588-1G>T |
single nucleotide variant |
not provided [RCV001377954] |
Chr10:71702548 [GRCh38] Chr10:73462305 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2421G>C (p.Leu807=) |
single nucleotide variant |
not provided [RCV001438691] |
Chr10:71702045 [GRCh38] Chr10:73461802 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6534C>T (p.Ile2178=) |
single nucleotide variant |
not provided [RCV001427985] |
Chr10:71793462 [GRCh38] Chr10:73553219 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1617C>G (p.Gly539=) |
single nucleotide variant |
not provided [RCV001432933] |
Chr10:71677558 [GRCh38] Chr10:73437315 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3228C>G (p.Gly1076=) |
single nucleotide variant |
not provided [RCV001449092] |
Chr10:71712672 [GRCh38] Chr10:73472429 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7107C>T (p.Asn2369=) |
single nucleotide variant |
not provided [RCV001438876] |
Chr10:71799163 [GRCh38] Chr10:73558920 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9369C>T (p.Tyr3123=) |
single nucleotide variant |
not provided [RCV001441573] |
Chr10:71812004 [GRCh38] Chr10:73571761 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4137T>C (p.Arg1379=) |
single nucleotide variant |
not provided [RCV001407561] |
Chr10:71734272 [GRCh38] Chr10:73494029 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9891C>G (p.Leu3297=) |
single nucleotide variant |
not provided [RCV001410157] |
Chr10:71815104 [GRCh38] Chr10:73574861 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9320-5T>G |
single nucleotide variant |
not provided [RCV001446837] |
Chr10:71811950 [GRCh38] Chr10:73571707 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2241C>T (p.Arg747=) |
single nucleotide variant |
not provided [RCV001446843] |
Chr10:71694211 [GRCh38] Chr10:73453968 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8733C>T (p.Asp2911=) |
single nucleotide variant |
not provided [RCV001410173] |
Chr10:71809830 [GRCh38] Chr10:73569587 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-7C>T |
single nucleotide variant |
not provided [RCV001392871] |
Chr10:71725365 [GRCh38] Chr10:73485122 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4110G>A (p.Val1370=) |
single nucleotide variant |
not provided [RCV001397815] |
Chr10:71734245 [GRCh38] Chr10:73494002 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.871G>T (p.Gly291Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473956]|not provided [RCV001384979] |
Chr10:71615542 [GRCh38] Chr10:73375299 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.51G>C (p.Leu17=) |
single nucleotide variant |
not provided [RCV001449314] |
Chr10:71439882 [GRCh38] Chr10:73199639 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7848C>T (p.Asn2616=) |
single nucleotide variant |
not provided [RCV001418080] |
Chr10:71803396 [GRCh38] Chr10:73563153 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4210-4_4210-3dup |
duplication |
not provided [RCV001436906] |
Chr10:71738492..71738493 [GRCh38] Chr10:73498249..73498250 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9147C>T (p.Asp3049=) |
single nucleotide variant |
not provided [RCV001441893] |
Chr10:71811384 [GRCh38] Chr10:73571141 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4335C>T (p.Asp1445=) |
single nucleotide variant |
not provided [RCV001446886] |
Chr10:71738623 [GRCh38] Chr10:73498380 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9402T>C (p.Asp3134=) |
single nucleotide variant |
not provided [RCV001410236] |
Chr10:71812501 [GRCh38] Chr10:73572258 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7482+64C>T |
single nucleotide variant |
not provided [RCV001541533] |
Chr10:71800819 [GRCh38] Chr10:73560576 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.871G>A (p.Gly291Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002250754]|Pituitary adenoma 5, multiple types [RCV003473894]|not provided [RCV001376753] |
Chr10:71615542 [GRCh38] Chr10:73375299 [GRCh37] Chr10:10q22.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.3457del (p.His1153fs) |
deletion |
not provided [RCV001380529] |
Chr10:71725397 [GRCh38] Chr10:73485154 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.6049+8C>A |
single nucleotide variant |
not provided [RCV001430648] |
Chr10:71790421 [GRCh38] Chr10:73550178 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7740C>T (p.Thr2580=) |
single nucleotide variant |
not provided [RCV001441532] |
Chr10:71803288 [GRCh38] Chr10:73563045 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8751C>T (p.Phe2917=) |
single nucleotide variant |
not provided [RCV001446851] |
Chr10:71809848 [GRCh38] Chr10:73569605 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3330C>T (p.Ser1110=) |
single nucleotide variant |
not provided [RCV001449461] |
Chr10:71712774 [GRCh38] Chr10:73472531 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9843G>A (p.Gly3281=) |
single nucleotide variant |
not provided [RCV001449498] |
Chr10:71815056 [GRCh38] Chr10:73574813 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8055G>C (p.Ala2685=) |
single nucleotide variant |
not provided [RCV001449515] |
Chr10:71805988 [GRCh38] Chr10:73565745 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1290+10C>T |
single nucleotide variant |
not provided [RCV001449517] |
Chr10:71645990 [GRCh38] Chr10:73405747 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3954C>T (p.Tyr1318=) |
single nucleotide variant |
not provided [RCV001426059] |
Chr10:71732225 [GRCh38] Chr10:73491982 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4845+7G>A |
single nucleotide variant |
not provided [RCV001398108] |
Chr10:71741928 [GRCh38] Chr10:73501685 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3447C>T (p.Asn1149=) |
single nucleotide variant |
not provided [RCV001398144] |
Chr10:71725388 [GRCh38] Chr10:73485145 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9672G>C (p.Arg3224=) |
single nucleotide variant |
not provided [RCV001393320] |
Chr10:71813282 [GRCh38] Chr10:73573039 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8589A>C (p.Ser2863=) |
single nucleotide variant |
not provided [RCV001440053] |
Chr10:71807874 [GRCh38] Chr10:73567631 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.10060C>T (p.Leu3354=) |
single nucleotide variant |
not provided [RCV001440068] |
Chr10:71815273 [GRCh38] Chr10:73575030 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1986+10del |
deletion |
not provided [RCV001405285] |
Chr10:71682580 [GRCh38] Chr10:73442337 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4846-7T>C |
single nucleotide variant |
not provided [RCV001405299] |
Chr10:71777673 [GRCh38] Chr10:73537430 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4206+1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473915]|Usher syndrome type 1 [RCV001826148]|not provided [RCV001379081] |
Chr10:71734342 [GRCh38] Chr10:73494099 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8179-7T>C |
single nucleotide variant |
not provided [RCV001403110] |
Chr10:71807270 [GRCh38] Chr10:73567027 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6582C>A (p.Ala2194=) |
single nucleotide variant |
not provided [RCV001403119] |
Chr10:71793510 [GRCh38] Chr10:73553267 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2751C>G (p.Leu917=) |
single nucleotide variant |
not provided [RCV001444620] |
Chr10:71704928 [GRCh38] Chr10:73464685 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7146G>C (p.Arg2382=) |
single nucleotide variant |
not provided [RCV001447309] |
Chr10:71799202 [GRCh38] Chr10:73558959 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8979+9T>G |
single nucleotide variant |
not provided [RCV001398244] |
Chr10:71810085 [GRCh38] Chr10:73569842 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9199-1G>A |
single nucleotide variant |
not provided [RCV001378281] |
Chr10:71811510 [GRCh38] Chr10:73571267 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4000C>A (p.Arg1334=) |
single nucleotide variant |
not provided [RCV001428821] |
Chr10:71732271 [GRCh38] Chr10:73492028 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.975A>T (p.Pro325=) |
single nucleotide variant |
not provided [RCV001447534] |
Chr10:71617234 [GRCh38] Chr10:73376991 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1986+3A>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001542766] |
Chr10:71682575 [GRCh38] Chr10:73442332 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.9954C>T (p.Ala3318=) |
single nucleotide variant |
not provided [RCV001436360] |
Chr10:71815167 [GRCh38] Chr10:73574924 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5382C>T (p.Ile1794=) |
single nucleotide variant |
not provided [RCV001425443] |
Chr10:71784300 [GRCh38] Chr10:73544057 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3150C>T (p.Ala1050=) |
single nucleotide variant |
not provided [RCV001436454] |
Chr10:71709141 [GRCh38] Chr10:73468898 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1779C>T (p.Asn593=) |
single nucleotide variant |
not provided [RCV001399962] |
Chr10:71679413 [GRCh38] Chr10:73439170 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473970]|not provided [RCV001386698] |
Chr10:71730544 [GRCh38] Chr10:73490301 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7482+8G>A |
single nucleotide variant |
not provided [RCV001440218] |
Chr10:71800763 [GRCh38] Chr10:73560520 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3318C>T (p.Ser1106=) |
single nucleotide variant |
not provided [RCV001431239] |
Chr10:71712762 [GRCh38] Chr10:73472519 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9831G>A (p.Lys3277=) |
single nucleotide variant |
not provided [RCV001444708] |
Chr10:71815044 [GRCh38] Chr10:73574801 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1859-1G>T |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473895]|not provided [RCV001376764] |
Chr10:71682444 [GRCh38] Chr10:73442201 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4299del (p.Val1434fs) |
deletion |
not provided [RCV001383664] |
Chr10:71738587 [GRCh38] Chr10:73498344 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2535C>A (p.Pro845=) |
single nucleotide variant |
not provided [RCV001423641] |
Chr10:71702159 [GRCh38] Chr10:73461916 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3528G>A (p.Leu1176=) |
single nucleotide variant |
not provided [RCV001426669] |
Chr10:71725469 [GRCh38] Chr10:73485226 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1450-10G>T |
single nucleotide variant |
not provided [RCV001428914] |
Chr10:71675102 [GRCh38] Chr10:73434859 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8071T>C (p.Leu2691=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559188]|Usher syndrome type 1D [RCV001559189]|not provided [RCV001403401] |
Chr10:71806174 [GRCh38] Chr10:73565931 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.625-93G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533639]|Usher syndrome type 1D [RCV001533638]|not provided [RCV001685447] |
Chr10:71570697 [GRCh38] Chr10:73330454 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.832+101G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533641]|Pituitary adenoma 5, multiple types [RCV001554485]|Usher syndrome type 1D [RCV001533640]|not provided [RCV001692455] |
Chr10:71578093 [GRCh38] Chr10:73337850 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3430+114T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533768]|Usher syndrome type 1D [RCV001533767]|not provided [RCV001655826] |
Chr10:71724219 [GRCh38] Chr10:73483976 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3431-205A>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533770]|Usher syndrome type 1D [RCV001533769]|not provided [RCV001673145] |
Chr10:71725167 [GRCh38] Chr10:73484924 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.6081T>C (p.Ile2027=) |
single nucleotide variant |
not provided [RCV001399993] |
Chr10:71791163 [GRCh38] Chr10:73550920 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8383C>T (p.Arg2795Ter) |
single nucleotide variant |
not provided [RCV001380621] |
Chr10:71807590 [GRCh38] Chr10:73567347 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3651del (p.Leu1218fs) |
deletion |
not provided [RCV001390487] |
Chr10:71730537 [GRCh38] Chr10:73490294 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.525C>T (p.Ser175=) |
single nucleotide variant |
not provided [RCV001434693] |
Chr10:71566837 [GRCh38] Chr10:73326594 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6909G>A (p.Glu2303=) |
single nucleotide variant |
not provided [RCV001393408] |
Chr10:71798433 [GRCh38] Chr10:73558190 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9511-1G>A |
single nucleotide variant |
not provided [RCV001379560] |
Chr10:71812767 [GRCh38] Chr10:73572524 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.5682C>T (p.Asn1894=) |
single nucleotide variant |
not provided [RCV001401279] |
Chr10:71785070 [GRCh38] Chr10:73544827 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2176+9C>T |
single nucleotide variant |
not provided [RCV001403575] |
Chr10:71690593 [GRCh38] Chr10:73450350 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3987T>C (p.Gly1329=) |
single nucleotide variant |
not provided [RCV001431695] |
Chr10:71732258 [GRCh38] Chr10:73492015 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2976G>T (p.Thr992=) |
single nucleotide variant |
not provided [RCV001398517] |
Chr10:71706919 [GRCh38] Chr10:73466676 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6049+1G>T |
single nucleotide variant |
not provided [RCV001378548] |
Chr10:71790414 [GRCh38] Chr10:73550171 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.3783C>T (p.Ser1261=) |
single nucleotide variant |
not provided [RCV001436583] |
Chr10:71732054 [GRCh38] Chr10:73491811 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4207-10C>T |
single nucleotide variant |
not provided [RCV001427151] |
Chr10:71734646 [GRCh38] Chr10:73494403 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5145C>T (p.Asp1715=) |
single nucleotide variant |
not provided [RCV001431575] |
Chr10:71778266 [GRCh38] Chr10:73538023 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6006G>C (p.Leu2002=) |
single nucleotide variant |
not provided [RCV001401324] |
Chr10:71790370 [GRCh38] Chr10:73550127 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4275G>T (p.Ala1425=) |
single nucleotide variant |
not provided [RCV001429327] |
Chr10:71738563 [GRCh38] Chr10:73498320 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_001164375.3(C10orf105):c.*3280G>A |
single nucleotide variant |
not provided [RCV001408740] |
Chr10:71712656 [GRCh38] Chr10:73472413 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9199-5C>T |
single nucleotide variant |
not provided [RCV001445442] |
Chr10:71811506 [GRCh38] Chr10:73571263 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1449+7C>A |
single nucleotide variant |
not provided [RCV001447949] |
Chr10:71646624 [GRCh38] Chr10:73406381 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9018G>A (p.Gln3006=) |
single nucleotide variant |
not provided [RCV001424095] |
Chr10:71810510 [GRCh38] Chr10:73570267 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2832C>T (p.Ser944=) |
single nucleotide variant |
not provided [RCV001429677] |
Chr10:71705009 [GRCh38] Chr10:73464766 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3285G>T (p.Val1095=) |
single nucleotide variant |
not provided [RCV001408551] |
Chr10:71712729 [GRCh38] Chr10:73472486 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3324G>A (p.Glu1108=) |
single nucleotide variant |
not provided [RCV001408554] |
Chr10:71712768 [GRCh38] Chr10:73472525 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6927C>A (p.Ala2309=) |
single nucleotide variant |
not provided [RCV001445301] |
Chr10:71798451 [GRCh38] Chr10:73558208 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5334G>A (p.Gln1778=) |
single nucleotide variant |
not provided [RCV001447925] |
Chr10:71779413 [GRCh38] Chr10:73539170 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5289G>A (p.Val1763=) |
single nucleotide variant |
not provided [RCV001419468] |
Chr10:71779368 [GRCh38] Chr10:73539125 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5226T>C (p.Pro1742=) |
single nucleotide variant |
not provided [RCV001442924] |
Chr10:71779305 [GRCh38] Chr10:73539062 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1917G>A (p.Leu639=) |
single nucleotide variant |
not provided [RCV001445458] |
Chr10:71682503 [GRCh38] Chr10:73442260 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2817C>A (p.Leu939=) |
single nucleotide variant |
not provided [RCV001411445] |
Chr10:71704994 [GRCh38] Chr10:73464751 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.65G>A (p.Trp22Ter) |
single nucleotide variant |
not provided [RCV001384287] |
Chr10:71439896 [GRCh38] Chr10:73199653 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.384C>T (p.Asn128=) |
single nucleotide variant |
not provided [RCV001429760] |
Chr10:71511167 [GRCh38] Chr10:73270924 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5631C>T (p.Asp1877=) |
single nucleotide variant |
not provided [RCV001408825] |
Chr10:71785019 [GRCh38] Chr10:73544776 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4725C>T (p.Ala1575=) |
single nucleotide variant |
not provided [RCV001419536] |
Chr10:71741801 [GRCh38] Chr10:73501558 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3381G>A (p.Thr1127=) |
single nucleotide variant |
not provided [RCV001419543] |
Chr10:71724056 [GRCh38] Chr10:73483813 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-11C>A |
single nucleotide variant |
not provided [RCV001438181] |
Chr10:71725361 [GRCh38] Chr10:73485118 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9903C>A (p.Pro3301=) |
single nucleotide variant |
not provided [RCV001416469] |
Chr10:71815116 [GRCh38] Chr10:73574873 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2253G>C (p.Gly751=) |
single nucleotide variant |
not provided [RCV001425915] |
Chr10:71694223 [GRCh38] Chr10:73453980 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1965C>T (p.Val655=) |
single nucleotide variant |
not provided [RCV001419610] |
Chr10:71682551 [GRCh38] Chr10:73442308 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4360-9del |
deletion |
not provided [RCV001406294] |
Chr10:71739635 [GRCh38] Chr10:73499392 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6936G>A (p.Gly2312=) |
single nucleotide variant |
not provided [RCV001448191] |
Chr10:71798460 [GRCh38] Chr10:73558217 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4623G>A (p.Val1541=) |
single nucleotide variant |
not provided [RCV001438311] |
Chr10:71741699 [GRCh38] Chr10:73501456 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9918G>A (p.Lys3306=) |
single nucleotide variant |
not provided [RCV001443208] |
Chr10:71815131 [GRCh38] Chr10:73574888 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5184C>T (p.Thr1728=) |
single nucleotide variant |
not provided [RCV001432193] |
Chr10:71778305 [GRCh38] Chr10:73538062 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6999C>T (p.Tyr2333=) |
single nucleotide variant |
not provided [RCV001445823] |
Chr10:71798523 [GRCh38] Chr10:73558280 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7221C>A (p.Tyr2407Ter) |
single nucleotide variant |
not provided [RCV001384469] |
Chr10:71799277 [GRCh38] Chr10:73559034 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473952]|Usher syndrome type 1D [RCV003448917]|not provided [RCV001384470] |
Chr10:71807639 [GRCh38] Chr10:73567396 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.289-10T>G |
single nucleotide variant |
not provided [RCV001440674] |
Chr10:71510944 [GRCh38] Chr10:73270701 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2001C>T (p.Asn667=) |
single nucleotide variant |
not provided [RCV001404339] |
Chr10:71687661 [GRCh38] Chr10:73447418 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9634-7C>T |
single nucleotide variant |
not provided [RCV001406514] |
Chr10:71813237 [GRCh38] Chr10:73572994 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2226C>T (p.Tyr742=) |
single nucleotide variant |
not provided [RCV001406565] |
Chr10:71694196 [GRCh38] Chr10:73453953 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5364T>A (p.Pro1788=) |
single nucleotide variant |
not provided [RCV001406597] |
Chr10:71779443 [GRCh38] Chr10:73539200 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7503T>C (p.Asp2501=) |
single nucleotide variant |
not provided [RCV001411537] |
Chr10:71802918 [GRCh38] Chr10:73562675 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9278+2T>G |
single nucleotide variant |
not provided [RCV001377712] |
Chr10:71811592 [GRCh38] Chr10:73571349 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7377G>T (p.Val2459=) |
single nucleotide variant |
not provided [RCV001443382] |
Chr10:71800650 [GRCh38] Chr10:73560407 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3240G>A (p.Lys1080=) |
single nucleotide variant |
not provided [RCV001448616] |
Chr10:71712684 [GRCh38] Chr10:73472441 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.68-168C>T |
single nucleotide variant |
not provided [RCV001536463] |
Chr10:71446150 [GRCh38] Chr10:73205907 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5923+8C>T |
single nucleotide variant |
not provided [RCV001502083] |
Chr10:71789050 [GRCh38] Chr10:73548807 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3384C>T (p.Asp1128=) |
single nucleotide variant |
not provided [RCV001467714] |
Chr10:71724059 [GRCh38] Chr10:73483816 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7203C>T (p.Ile2401=) |
single nucleotide variant |
not provided [RCV001454037] |
Chr10:71799259 [GRCh38] Chr10:73559016 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9694C>A (p.Arg3232=) |
single nucleotide variant |
not provided [RCV001481615] |
Chr10:71813304 [GRCh38] Chr10:73573061 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3633G>A (p.Gln1211=) |
single nucleotide variant |
not provided [RCV001472638] |
Chr10:71730522 [GRCh38] Chr10:73490279 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8643C>T (p.Val2881=) |
single nucleotide variant |
not provided [RCV001494635] |
Chr10:71807928 [GRCh38] Chr10:73567685 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7935C>T (p.Asn2645=) |
single nucleotide variant |
not provided [RCV001461374] |
Chr10:71805868 [GRCh38] Chr10:73565625 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5562G>A (p.Leu1854=) |
single nucleotide variant |
not provided [RCV001457109] |
Chr10:71784950 [GRCh38] Chr10:73544707 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4020C>T (p.Ile1340=) |
single nucleotide variant |
not provided [RCV001501990] |
Chr10:71732291 [GRCh38] Chr10:73492048 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5713-203G>A |
single nucleotide variant |
not provided [RCV001681538] |
Chr10:71785428 [GRCh38] Chr10:73545185 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4050_4051inv (p.Asn1351Asp) |
inversion |
not provided [RCV001478936] |
Chr10:71732321..71732322 [GRCh38] Chr10:73492078..73492079 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9615T>C (p.Ile3205=) |
single nucleotide variant |
not provided [RCV001454498] |
Chr10:71812872 [GRCh38] Chr10:73572629 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7161T>G (p.Pro2387=) |
single nucleotide variant |
not provided [RCV001482216] |
Chr10:71799217 [GRCh38] Chr10:73558974 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6558G>A (p.Ser2186=) |
single nucleotide variant |
not provided [RCV001465029] |
Chr10:71793486 [GRCh38] Chr10:73553243 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9501G>T (p.Thr3167=) |
single nucleotide variant |
not provided [RCV001465031] |
Chr10:71812600 [GRCh38] Chr10:73572357 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1291-185A>G |
single nucleotide variant |
not provided [RCV001541251] |
Chr10:71646274 [GRCh38] Chr10:73406031 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.429+2T>C |
single nucleotide variant |
not provided [RCV001682662] |
Chr10:71511214 [GRCh38] Chr10:73270971 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6369G>T (p.Gly2123=) |
single nucleotide variant |
not provided [RCV001468634] |
Chr10:71793297 [GRCh38] Chr10:73553054 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7362+59G>C |
single nucleotide variant |
not provided [RCV001614640] |
Chr10:71799688 [GRCh38] Chr10:73559445 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1257G>C (p.Leu419=) |
single nucleotide variant |
not provided [RCV001454328] |
Chr10:71645947 [GRCh38] Chr10:73405704 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1164G>A (p.Val388=) |
single nucleotide variant |
not provided [RCV001461582] |
Chr10:71645854 [GRCh38] Chr10:73405611 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9380+25G>A |
single nucleotide variant |
not provided [RCV001588456] |
Chr10:71812040 [GRCh38] Chr10:73571797 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2954-4G>A |
single nucleotide variant |
not provided [RCV001450836] |
Chr10:71706893 [GRCh38] Chr10:73466650 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4617+14C>T |
single nucleotide variant |
not provided [RCV001450909] |
Chr10:71740964 [GRCh38] Chr10:73500721 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2176+320C>G |
single nucleotide variant |
not provided [RCV001617098] |
Chr10:71690904 [GRCh38] Chr10:73450661 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.7873-307G>A |
single nucleotide variant |
not provided [RCV001590708] |
Chr10:71805499 [GRCh38] Chr10:73565256 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9739-259del |
deletion |
not provided [RCV001693173] |
Chr10:71814693 [GRCh38] Chr10:73574450 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1716G>A (p.Glu572=) |
single nucleotide variant |
not provided [RCV001502878] |
Chr10:71677657 [GRCh38] Chr10:73437414 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9159C>A (p.Ala3053=) |
single nucleotide variant |
not provided [RCV001486378] |
Chr10:71811396 [GRCh38] Chr10:73571153 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8616T>C (p.Asp2872=) |
single nucleotide variant |
not provided [RCV001499479] |
Chr10:71807901 [GRCh38] Chr10:73567658 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1449+262C>T |
single nucleotide variant |
not provided [RCV001666842] |
Chr10:71646879 [GRCh38] Chr10:73406636 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.9739-121G>C |
single nucleotide variant |
not provided [RCV001687799] |
Chr10:71814831 [GRCh38] Chr10:73574588 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.7026G>C (p.Gly2342=) |
single nucleotide variant |
not provided [RCV001496366] |
Chr10:71798550 [GRCh38] Chr10:73558307 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3459T>C (p.His1153=) |
single nucleotide variant |
not provided [RCV001458894] |
Chr10:71725400 [GRCh38] Chr10:73485157 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4377C>T (p.Ala1459=) |
single nucleotide variant |
not provided [RCV001486492] |
Chr10:71739661 [GRCh38] Chr10:73499418 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.459C>T (p.Ile153=) |
single nucleotide variant |
not provided [RCV001469403] |
Chr10:71566771 [GRCh38] Chr10:73326528 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2856G>A (p.Glu952=) |
single nucleotide variant |
not provided [RCV001491174] |
Chr10:71705033 [GRCh38] Chr10:73464790 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1506C>T (p.Asp502=) |
single nucleotide variant |
not provided [RCV001451241] |
Chr10:71675168 [GRCh38] Chr10:73434925 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1410C>T (p.Tyr470=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832675]|not provided [RCV001510038] |
Chr10:71646578 [GRCh38] Chr10:73406335 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.2398-9C>T |
single nucleotide variant |
not provided [RCV001457974] |
Chr10:71702013 [GRCh38] Chr10:73461770 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.981C>T (p.Asp327=) |
single nucleotide variant |
not provided [RCV001451753] |
Chr10:71617240 [GRCh38] Chr10:73376997 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4662C>T (p.Asp1554=) |
single nucleotide variant |
not provided [RCV001462439] |
Chr10:71741738 [GRCh38] Chr10:73501495 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5952C>T (p.Pro1984=) |
single nucleotide variant |
not provided [RCV001499901] |
Chr10:71790316 [GRCh38] Chr10:73550073 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4207-125G>A |
single nucleotide variant |
not provided [RCV001655123] |
Chr10:71734531 [GRCh38] Chr10:73494288 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.9783A>G (p.Pro3261=) |
single nucleotide variant |
not provided [RCV001451471] |
Chr10:71814996 [GRCh38] Chr10:73574753 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9738+7G>A |
single nucleotide variant |
not provided [RCV001499726] |
Chr10:71813355 [GRCh38] Chr10:73573112 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3066C>T (p.Asn1022=) |
single nucleotide variant |
not provided [RCV001502863] |
Chr10:71707009 [GRCh38] Chr10:73466766 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8179-272G>A |
single nucleotide variant |
not provided [RCV001684882] |
Chr10:71807005 [GRCh38] Chr10:73566762 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.7683C>T (p.Asp2561=) |
single nucleotide variant |
not provided [RCV001455377] |
Chr10:71803231 [GRCh38] Chr10:73562988 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9816A>G (p.Pro3272=) |
single nucleotide variant |
not provided [RCV001503497] |
Chr10:71815029 [GRCh38] Chr10:73574786 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5068-7C>G |
single nucleotide variant |
not provided [RCV001486792] |
Chr10:71778182 [GRCh38] Chr10:73537939 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2397+7G>A |
single nucleotide variant |
not provided [RCV001486928] |
Chr10:71695532 [GRCh38] Chr10:73455289 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1338G>C (p.Val446=) |
single nucleotide variant |
not provided [RCV001486932] |
Chr10:71646506 [GRCh38] Chr10:73406263 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3106+10C>T |
single nucleotide variant |
not provided [RCV001480222] |
Chr10:71707059 [GRCh38] Chr10:73466816 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6712+216C>T |
single nucleotide variant |
not provided [RCV001653195] |
Chr10:71793856 [GRCh38] Chr10:73553613 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.9711C>T (p.Ala3237=) |
single nucleotide variant |
not provided [RCV001459351] |
Chr10:71813321 [GRCh38] Chr10:73573078 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2121G>A (p.Glu707=) |
single nucleotide variant |
not provided [RCV001476548] |
Chr10:71690529 [GRCh38] Chr10:73450286 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3549C>T (p.His1183=) |
single nucleotide variant |
not provided [RCV001496810] |
Chr10:71725490 [GRCh38] Chr10:73485247 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6051T>A (p.Gly2017=) |
single nucleotide variant |
not provided [RCV001496813] |
Chr10:71791133 [GRCh38] Chr10:73550890 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1515-25T>A |
single nucleotide variant |
Usher syndrome type 1 [RCV001832801]|not provided [RCV001589528] |
Chr10:71677431 [GRCh38] Chr10:73437188 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.8178+165T>A |
single nucleotide variant |
not provided [RCV001696126] |
Chr10:71806446 [GRCh38] Chr10:73566203 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.6319C>A (p.Arg2107=) |
single nucleotide variant |
not provided [RCV001477094] |
Chr10:71793247 [GRCh38] Chr10:73553004 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3405G>A (p.Gly1135=) |
single nucleotide variant |
not provided [RCV001452535] |
Chr10:71724080 [GRCh38] Chr10:73483837 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9025C>T (p.Leu3009=) |
single nucleotide variant |
not provided [RCV001480312] |
Chr10:71810517 [GRCh38] Chr10:73570274 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-5C>A |
single nucleotide variant |
not provided [RCV001452334] |
Chr10:71725367 [GRCh38] Chr10:73485124 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8577C>T (p.Ala2859=) |
single nucleotide variant |
not provided [RCV001500303] |
Chr10:71807862 [GRCh38] Chr10:73567619 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3220+188G>A |
single nucleotide variant |
not provided [RCV001584980] |
Chr10:71709399 [GRCh38] Chr10:73469156 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_001164375.3(C10orf105):c.*3000C>T |
single nucleotide variant |
not provided [RCV001694514] |
Chr10:71712936 [GRCh38] Chr10:73472693 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.9381-144C>A |
single nucleotide variant |
not provided [RCV001700906] |
Chr10:71812336 [GRCh38] Chr10:73572093 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4804C>T (p.Leu1602=) |
single nucleotide variant |
not provided [RCV001500717] |
Chr10:71741880 [GRCh38] Chr10:73501637 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7363-9C>T |
single nucleotide variant |
not provided [RCV001466551] |
Chr10:71800627 [GRCh38] Chr10:73560384 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5175C>G (p.Thr1725=) |
single nucleotide variant |
not provided [RCV001470433] |
Chr10:71778296 [GRCh38] Chr10:73538053 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9003G>A (p.Arg3001=) |
single nucleotide variant |
not provided [RCV001459696] |
Chr10:71810495 [GRCh38] Chr10:73570252 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3225C>T (p.Asn1075=) |
single nucleotide variant |
not provided [RCV001455972] |
Chr10:71712669 [GRCh38] Chr10:73472426 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1752+300G>T |
single nucleotide variant |
not provided [RCV001680655] |
Chr10:71677993 [GRCh38] Chr10:73437750 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.6213T>C (p.Pro2071=) |
single nucleotide variant |
not provided [RCV001497871] |
Chr10:71791295 [GRCh38] Chr10:73551052 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2954-5C>T |
single nucleotide variant |
not provided [RCV001504314] |
Chr10:71706892 [GRCh38] Chr10:73466649 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5923+7G>T |
single nucleotide variant |
not provided [RCV001497791] |
Chr10:71789049 [GRCh38] Chr10:73548806 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.102C>T (p.His34=) |
single nucleotide variant |
not provided [RCV001480583] |
Chr10:71446352 [GRCh38] Chr10:73206109 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8178+316dup |
duplication |
not provided [RCV001674842] |
Chr10:71806579..71806580 [GRCh38] Chr10:73566336..73566337 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1135-294C>T |
single nucleotide variant |
not provided [RCV001687165] |
Chr10:71643567 [GRCh38] Chr10:73403324 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.8025T>C (p.Thr2675=) |
single nucleotide variant |
not provided [RCV001463721] |
Chr10:71805958 [GRCh38] Chr10:73565715 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4488+6_4488+11dup |
duplication |
not provided [RCV001466995] |
Chr10:71739775..71739776 [GRCh38] Chr10:73499532..73499533 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2250C>T (p.Asp750=) |
single nucleotide variant |
not provided [RCV001484340] |
Chr10:71694220 [GRCh38] Chr10:73453977 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3126G>A (p.Lys1042=) |
single nucleotide variant |
not provided [RCV001477875] |
Chr10:71709117 [GRCh38] Chr10:73468874 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5188-9C>T |
single nucleotide variant |
not provided [RCV001488199] |
Chr10:71779258 [GRCh38] Chr10:73539015 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4260C>T (p.Phe1420=) |
single nucleotide variant |
not provided [RCV001497660] |
Chr10:71738548 [GRCh38] Chr10:73498305 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.625-138G>A |
single nucleotide variant |
not provided [RCV001687187] |
Chr10:71570652 [GRCh38] Chr10:73330409 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.429+18T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002476815]|not provided [RCV001513502] |
Chr10:71511230 [GRCh38] Chr10:73270987 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.3747G>A (p.Leu1249=) |
single nucleotide variant |
not provided [RCV001501229] |
Chr10:71732018 [GRCh38] Chr10:73491775 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1521G>A (p.Ser507=) |
single nucleotide variant |
not provided [RCV001456598] |
Chr10:71677462 [GRCh38] Chr10:73437219 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8980-8_8980-7del |
microsatellite |
not provided [RCV001467285] |
Chr10:71810462..71810463 [GRCh38] Chr10:73570219..73570220 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.805C>A (p.Arg269=) |
single nucleotide variant |
not provided [RCV001467288] |
Chr10:71577965 [GRCh38] Chr10:73337722 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.933C>A (p.Ile311=) |
single nucleotide variant |
not provided [RCV001471362] |
Chr10:71615604 [GRCh38] Chr10:73375361 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.732C>T (p.Asn244=) |
single nucleotide variant |
not provided [RCV001501113] |
Chr10:71570897 [GRCh38] Chr10:73330654 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9303T>C (p.Ile3101=) |
single nucleotide variant |
not provided [RCV001463744] |
Chr10:71811737 [GRCh38] Chr10:73571494 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4209+99G>A |
single nucleotide variant |
not provided [RCV001680939] |
Chr10:71734757 [GRCh38] Chr10:73494514 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.-35_-34insAGGCG |
insertion |
not provided [RCV001654441] |
Chr10:71397289..71397290 [GRCh38] Chr10:73157046..73157047 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1915C>T (p.Leu639=) |
single nucleotide variant |
not provided [RCV001467388] |
Chr10:71682501 [GRCh38] Chr10:73442258 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5713-7A>T |
single nucleotide variant |
not provided [RCV001485288] |
Chr10:71785624 [GRCh38] Chr10:73545381 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8723-19G>A |
single nucleotide variant |
not provided [RCV001488974] |
Chr10:71809801 [GRCh38] Chr10:73569558 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5673T>C (p.Thr1891=) |
single nucleotide variant |
not provided [RCV001489051] |
Chr10:71785061 [GRCh38] Chr10:73544818 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4360-330C>T |
single nucleotide variant |
not provided [RCV001670299] |
Chr10:71739314 [GRCh38] Chr10:73499071 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1752+67G>T |
single nucleotide variant |
not provided [RCV001590120] |
Chr10:71677760 [GRCh38] Chr10:73437517 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1449+323G>T |
single nucleotide variant |
not provided [RCV001714907] |
Chr10:71646940 [GRCh38] Chr10:73406697 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5061A>G (p.Arg1687=) |
single nucleotide variant |
not provided [RCV001461126] |
Chr10:71777895 [GRCh38] Chr10:73537652 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9141C>T (p.Val3047=) |
single nucleotide variant |
not provided [RCV001456985] |
Chr10:71811378 [GRCh38] Chr10:73571135 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1917G>C (p.Leu639=) |
single nucleotide variant |
not provided [RCV001505181] |
Chr10:71682503 [GRCh38] Chr10:73442260 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.951G>A (p.Thr317=) |
single nucleotide variant |
not provided [RCV001461429] |
Chr10:71617210 [GRCh38] Chr10:73376967 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1908G>T (p.Leu636=) |
single nucleotide variant |
not provided [RCV001501876] |
Chr10:71682494 [GRCh38] Chr10:73442251 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.40del (p.Leu14fs) |
deletion |
not provided [RCV001384653] |
Chr10:71439871 [GRCh38] Chr10:73199628 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3774T>A (p.Ile1258=) |
single nucleotide variant |
not provided [RCV001416929] |
Chr10:71732045 [GRCh38] Chr10:73491802 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1738C>T (p.Leu580=) |
single nucleotide variant |
not provided [RCV001419022] |
Chr10:71677679 [GRCh38] Chr10:73437436 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2820C>T (p.Ile940=) |
single nucleotide variant |
not provided [RCV001426851] |
Chr10:71704997 [GRCh38] Chr10:73464754 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9078-6G>A |
single nucleotide variant |
not provided [RCV001428461] |
Chr10:71811309 [GRCh38] Chr10:73571066 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1449+11G>A |
single nucleotide variant |
not provided [RCV001431051] |
Chr10:71646628 [GRCh38] Chr10:73406385 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9984C>T (p.Arg3328=) |
single nucleotide variant |
not provided [RCV001479739] |
Chr10:71815197 [GRCh38] Chr10:73574954 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1458C>T (p.Asp486=) |
single nucleotide variant |
not provided [RCV001462489] |
Chr10:71675120 [GRCh38] Chr10:73434877 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8308+12C>G |
single nucleotide variant |
not provided [RCV001502860] |
Chr10:71807418 [GRCh38] Chr10:73567175 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9924G>A (p.Leu3308=) |
single nucleotide variant |
not provided [RCV001502884] |
Chr10:71815137 [GRCh38] Chr10:73574894 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9199-9C>G |
single nucleotide variant |
not provided [RCV001469902] |
Chr10:71811502 [GRCh38] Chr10:73571259 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1575C>T (p.Leu525=) |
single nucleotide variant |
not provided [RCV001472963] |
Chr10:71677516 [GRCh38] Chr10:73437273 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9093C>T (p.Ile3031=) |
single nucleotide variant |
not provided [RCV001490314] |
Chr10:71811330 [GRCh38] Chr10:73571087 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4893G>A (p.Ala1631=) |
single nucleotide variant |
not provided [RCV001442264] |
Chr10:71777727 [GRCh38] Chr10:73537484 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4944C>T (p.Asp1648=) |
single nucleotide variant |
not provided [RCV001497773] |
Chr10:71777778 [GRCh38] Chr10:73537535 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2176+7C>T |
single nucleotide variant |
not provided [RCV001460255] |
Chr10:71690591 [GRCh38] Chr10:73450348 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2397+17C>A |
single nucleotide variant |
not provided [RCV001399803] |
Chr10:71695542 [GRCh38] Chr10:73455299 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2059+7G>A |
single nucleotide variant |
not provided [RCV001506033] |
Chr10:71687726 [GRCh38] Chr10:73447483 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.288+7C>T |
single nucleotide variant |
not provided [RCV001486230] |
Chr10:71510231 [GRCh38] Chr10:73269988 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3894C>T (p.Ser1298=) |
single nucleotide variant |
not provided [RCV001470155] |
Chr10:71732165 [GRCh38] Chr10:73491922 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8308+10G>C |
single nucleotide variant |
not provided [RCV001490408] |
Chr10:71807416 [GRCh38] Chr10:73567173 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3546C>T (p.Asn1182=) |
single nucleotide variant |
not provided [RCV001450800] |
Chr10:71725487 [GRCh38] Chr10:73485244 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1859-4G>T |
single nucleotide variant |
not provided [RCV001419407] |
Chr10:71682441 [GRCh38] Chr10:73442198 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.214G>T (p.Glu72Ter) |
single nucleotide variant |
not provided [RCV001388119] |
Chr10:71510150 [GRCh38] Chr10:73269907 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4443G>A (p.Val1481=) |
single nucleotide variant |
not provided [RCV001439654] |
Chr10:71739727 [GRCh38] Chr10:73499484 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1962C>G (p.Thr654=) |
single nucleotide variant |
not provided [RCV001458360] |
Chr10:71682548 [GRCh38] Chr10:73442305 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9393G>A (p.Val3131=) |
single nucleotide variant |
not provided [RCV001495942] |
Chr10:71812492 [GRCh38] Chr10:73572249 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9120T>C (p.Asn3040=) |
single nucleotide variant |
not provided [RCV001481501] |
Chr10:71811357 [GRCh38] Chr10:73571114 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8004A>T (p.Pro2668=) |
single nucleotide variant |
not provided [RCV001481502] |
Chr10:71805937 [GRCh38] Chr10:73565694 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6582C>T (p.Ala2194=) |
single nucleotide variant |
not provided [RCV001464714] |
Chr10:71793510 [GRCh38] Chr10:73553267 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8722+10G>A |
single nucleotide variant |
not provided [RCV001457507] |
Chr10:71808017 [GRCh38] Chr10:73567774 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9414G>T (p.Arg3138=) |
single nucleotide variant |
not provided [RCV001503060] |
Chr10:71812513 [GRCh38] Chr10:73572270 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6713-9G>C |
single nucleotide variant |
not provided [RCV001484482] |
Chr10:71797095 [GRCh38] Chr10:73556852 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5733C>T (p.Asn1911=) |
single nucleotide variant |
not provided [RCV001467265] |
Chr10:71785651 [GRCh38] Chr10:73545408 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4206+9G>C |
single nucleotide variant |
not provided [RCV001473553] |
Chr10:71734350 [GRCh38] Chr10:73494107 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6049+18C>G |
single nucleotide variant |
not provided [RCV001513911] |
Chr10:71790431 [GRCh38] Chr10:73550188 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5523G>C (p.Val1841=) |
single nucleotide variant |
not provided [RCV001442472] |
Chr10:71784911 [GRCh38] Chr10:73544668 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2289+47G>A |
single nucleotide variant |
not provided [RCV001500209] |
Chr10:71694306 [GRCh38] Chr10:73454063 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9183C>T (p.Asp3061=) |
single nucleotide variant |
not provided [RCV001464276] |
Chr10:71811420 [GRCh38] Chr10:73571177 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1770C>T (p.Ser590=) |
single nucleotide variant |
not provided [RCV001464300] |
Chr10:71679404 [GRCh38] Chr10:73439161 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8868C>T (p.Arg2956=) |
single nucleotide variant |
not provided [RCV001482081] |
Chr10:71809965 [GRCh38] Chr10:73569722 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1291-8A>G |
single nucleotide variant |
not provided [RCV001464784] |
Chr10:71646451 [GRCh38] Chr10:73406208 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6099G>A (p.Ser2033=) |
single nucleotide variant |
not provided [RCV001467291] |
Chr10:71791181 [GRCh38] Chr10:73550938 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1134+10T>C |
single nucleotide variant |
not provided [RCV001486353] |
Chr10:71617403 [GRCh38] Chr10:73377160 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3132C>T (p.Ser1044=) |
single nucleotide variant |
not provided [RCV001491207] |
Chr10:71709123 [GRCh38] Chr10:73468880 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4656C>T (p.Ala1552=) |
single nucleotide variant |
not provided [RCV001496025] |
Chr10:71741732 [GRCh38] Chr10:73501489 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1422C>T (p.Thr474=) |
single nucleotide variant |
not provided [RCV001510037] |
Chr10:71646590 [GRCh38] Chr10:73406347 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.2733+17T>G |
single nucleotide variant |
not provided [RCV001510039] |
Chr10:71702711 [GRCh38] Chr10:73462468 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.6198G>A (p.Arg2066=) |
single nucleotide variant |
not provided [RCV001477992] |
Chr10:71791280 [GRCh38] Chr10:73551037 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4185C>T (p.Gly1395=) |
single nucleotide variant |
not provided [RCV001462805] |
Chr10:71734320 [GRCh38] Chr10:73494077 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2290-8C>T |
single nucleotide variant |
not provided [RCV001500291] |
Chr10:71695410 [GRCh38] Chr10:73455167 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2290-19G>A |
single nucleotide variant |
not provided [RCV001519499] |
Chr10:71695399 [GRCh38] Chr10:73455156 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.2595G>A (p.Arg865=) |
single nucleotide variant |
not provided [RCV001483063] |
Chr10:71702556 [GRCh38] Chr10:73462313 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9015G>T (p.Ala3005=) |
single nucleotide variant |
not provided [RCV001503316] |
Chr10:71810507 [GRCh38] Chr10:73570264 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5793C>T (p.Asn1931=) |
single nucleotide variant |
not provided [RCV001483129] |
Chr10:71785711 [GRCh38] Chr10:73545468 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9750T>C (p.Thr3250=) |
single nucleotide variant |
not provided [RCV001491545] |
Chr10:71814963 [GRCh38] Chr10:73574720 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3663C>T (p.Thr1221=) |
single nucleotide variant |
not provided [RCV001458827] |
Chr10:71730552 [GRCh38] Chr10:73490309 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6201C>T (p.Pro2067=) |
single nucleotide variant |
not provided [RCV001453531] |
Chr10:71791283 [GRCh38] Chr10:73551040 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2865C>G (p.Arg955=) |
single nucleotide variant |
not provided [RCV001500393] |
Chr10:71705042 [GRCh38] Chr10:73464799 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6990G>A (p.Leu2330=) |
single nucleotide variant |
not provided [RCV001465053] |
Chr10:71798514 [GRCh38] Chr10:73558271 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9511-5C>A |
single nucleotide variant |
not provided [RCV001483201] |
Chr10:71812763 [GRCh38] Chr10:73572520 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1962C>T (p.Thr654=) |
single nucleotide variant |
not provided [RCV001498957] |
Chr10:71682548 [GRCh38] Chr10:73442305 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3900C>T (p.Tyr1300=) |
single nucleotide variant |
not provided [RCV001499070] |
Chr10:71732171 [GRCh38] Chr10:73491928 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9486G>A (p.Leu3162=) |
single nucleotide variant |
not provided [RCV001480306] |
Chr10:71812585 [GRCh38] Chr10:73572342 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6165G>T (p.Leu2055=) |
single nucleotide variant |
not provided [RCV001502565] |
Chr10:71791247 [GRCh38] Chr10:73551004 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9199-6C>T |
single nucleotide variant |
not provided [RCV001502606] |
Chr10:71811505 [GRCh38] Chr10:73571262 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5277G>A (p.Pro1759=) |
single nucleotide variant |
not provided [RCV001457907] |
Chr10:71779356 [GRCh38] Chr10:73539113 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.390C>T (p.Pro130=) |
single nucleotide variant |
not provided [RCV001399855] |
Chr10:71511173 [GRCh38] Chr10:73270930 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8064+1G>A |
single nucleotide variant |
Usher syndrome [RCV002509678]|Usher syndrome type 1 [RCV001826138]|not provided [RCV001378340] |
Chr10:71805998 [GRCh38] Chr10:73565755 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.1329T>C (p.Tyr443=) |
single nucleotide variant |
not provided [RCV001460285] |
Chr10:71646497 [GRCh38] Chr10:73406254 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7455C>T (p.Ala2485=) |
single nucleotide variant |
not provided [RCV001429693] |
Chr10:71800728 [GRCh38] Chr10:73560485 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7941G>A (p.Ala2647=) |
single nucleotide variant |
not provided [RCV001432189] |
Chr10:71805874 [GRCh38] Chr10:73565631 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1536G>A (p.Thr512=) |
single nucleotide variant |
not provided [RCV001463093]|not specified [RCV001698512] |
Chr10:71677477 [GRCh38] Chr10:73437234 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.2427G>A (p.Glu809=) |
single nucleotide variant |
not provided [RCV001434293] |
Chr10:71702051 [GRCh38] Chr10:73461808 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.145+7G>A |
single nucleotide variant |
not provided [RCV001505212] |
Chr10:71446402 [GRCh38] Chr10:73206159 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4413C>T (p.Thr1471=) |
single nucleotide variant |
not provided [RCV001505240] |
Chr10:71739697 [GRCh38] Chr10:73499454 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2760C>T (p.Gly920=) |
single nucleotide variant |
not provided [RCV001438323] |
Chr10:71704937 [GRCh38] Chr10:73464694 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3399G>A (p.Glu1133=) |
single nucleotide variant |
not provided [RCV001427593] |
Chr10:71724074 [GRCh38] Chr10:73483831 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4995T>C (p.Gly1665=) |
single nucleotide variant |
not provided [RCV001476692] |
Chr10:71777829 [GRCh38] Chr10:73537586 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5565C>G (p.Pro1855=) |
single nucleotide variant |
not provided [RCV001478042] |
Chr10:71784953 [GRCh38] Chr10:73544710 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2460C>G (p.Pro820=) |
single nucleotide variant |
not provided [RCV001440571] |
Chr10:71702084 [GRCh38] Chr10:73461841 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5721C>T (p.Ile1907=) |
single nucleotide variant |
not provided [RCV001404178] |
Chr10:71785639 [GRCh38] Chr10:73545396 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7054+10A>G |
single nucleotide variant |
not provided [RCV001429839] |
Chr10:71798588 [GRCh38] Chr10:73558345 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2176+10C>G |
single nucleotide variant |
not provided [RCV001406703] |
Chr10:71690594 [GRCh38] Chr10:73450351 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5808C>A (p.Arg1936=) |
single nucleotide variant |
not provided [RCV001406706] |
Chr10:71785726 [GRCh38] Chr10:73545483 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8973T>C (p.Asn2991=) |
single nucleotide variant |
not provided [RCV001443362] |
Chr10:71810070 [GRCh38] Chr10:73569827 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9480C>T (p.Ala3160=) |
single nucleotide variant |
not provided [RCV001443394] |
Chr10:71812579 [GRCh38] Chr10:73572336 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8723-5T>C |
single nucleotide variant |
not provided [RCV001500750] |
Chr10:71809815 [GRCh38] Chr10:73569572 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5713-8C>T |
single nucleotide variant |
not provided [RCV001417783] |
Chr10:71785623 [GRCh38] Chr10:73545380 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1446C>T (p.Val482=) |
single nucleotide variant |
not provided [RCV001505283] |
Chr10:71646614 [GRCh38] Chr10:73406371 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.357C>T (p.Asn119=) |
single nucleotide variant |
not provided [RCV001397714] |
Chr10:71511140 [GRCh38] Chr10:73270897 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7926G>A (p.Glu2642=) |
single nucleotide variant |
not provided [RCV001397798] |
Chr10:71805859 [GRCh38] Chr10:73565616 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.597G>A (p.Gln199=) |
single nucleotide variant |
not provided [RCV001478928] |
Chr10:71566909 [GRCh38] Chr10:73326666 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8722+7C>T |
single nucleotide variant |
not provided [RCV001480659] |
Chr10:71808014 [GRCh38] Chr10:73567771 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9078-4C>T |
single nucleotide variant |
not provided [RCV001480661] |
Chr10:71811311 [GRCh38] Chr10:73571068 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9319+1G>C |
single nucleotide variant |
not provided [RCV001376935] |
Chr10:71811754 [GRCh38] Chr10:73571511 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NC_000010.10:g.(?_73199579)_(73501688_?)del |
deletion |
not provided [RCV001383845] |
Chr10:73199579..73501688 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7872+8T>C |
single nucleotide variant |
not provided [RCV001398212] |
Chr10:71803428 [GRCh38] Chr10:73563185 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9633+7C>T |
single nucleotide variant |
not provided [RCV001418001] |
Chr10:71812897 [GRCh38] Chr10:73572654 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7860C>T (p.Leu2620=) |
single nucleotide variant |
not provided [RCV001483545] |
Chr10:71803408 [GRCh38] Chr10:73563165 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9378T>C (p.Asp3126=) |
single nucleotide variant |
not provided [RCV001467843] |
Chr10:71812013 [GRCh38] Chr10:73571770 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4977A>G (p.Ala1659=) |
single nucleotide variant |
not provided [RCV001436902] |
Chr10:71777811 [GRCh38] Chr10:73537568 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2178G>A (p.Gly726=) |
single nucleotide variant |
not provided [RCV001393286] |
Chr10:71694148 [GRCh38] Chr10:73453905 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8724G>A (p.Gly2908=) |
single nucleotide variant |
not provided [RCV001430127] |
Chr10:71809821 [GRCh38] Chr10:73569578 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.289-9T>C |
single nucleotide variant |
not provided [RCV001430147] |
Chr10:71510945 [GRCh38] Chr10:73270702 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4266C>T (p.Ser1422=) |
single nucleotide variant |
not provided [RCV001440968] |
Chr10:71738554 [GRCh38] Chr10:73498311 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8343C>T (p.Pro2781=) |
single nucleotide variant |
not provided [RCV001430195] |
Chr10:71807550 [GRCh38] Chr10:73567307 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2670T>C (p.Phe890=) |
single nucleotide variant |
not provided [RCV001476671] |
Chr10:71702631 [GRCh38] Chr10:73462388 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.534C>T (p.Phe178=) |
single nucleotide variant |
not provided [RCV001459313] |
Chr10:71566846 [GRCh38] Chr10:73326603 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6930C>A (p.Thr2310=) |
single nucleotide variant |
not provided [RCV001424010] |
Chr10:71798454 [GRCh38] Chr10:73558211 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.145+9G>A |
single nucleotide variant |
not provided [RCV001466433] |
Chr10:71446404 [GRCh38] Chr10:73206161 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8175T>G (p.Pro2725=) |
single nucleotide variant |
not provided [RCV001503917] |
Chr10:71806278 [GRCh38] Chr10:73566035 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.303C>T (p.Phe101=) |
single nucleotide variant |
not provided [RCV001503918] |
Chr10:71510968 [GRCh38] Chr10:73270725 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8571C>T (p.Thr2857=) |
single nucleotide variant |
not provided [RCV001426179] |
Chr10:71807856 [GRCh38] Chr10:73567613 [GRCh37] Chr10:10q22.1 |
likely benign |
NC_000010.10:g.(?_73442182)_(73442349_?)del |
deletion |
not provided [RCV001383844] |
Chr10:73442182..73442349 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7035G>A (p.Gln2345=) |
single nucleotide variant |
not provided [RCV001402149] |
Chr10:71798559 [GRCh38] Chr10:73558316 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.145+10G>A |
single nucleotide variant |
not provided [RCV001407155] |
Chr10:71446405 [GRCh38] Chr10:73206162 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8178+10C>T |
single nucleotide variant |
not provided [RCV001452234] |
Chr10:71806291 [GRCh38] Chr10:73566048 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7359C>T (p.Thr2453=) |
single nucleotide variant |
not provided [RCV001479209] |
Chr10:71799626 [GRCh38] Chr10:73559383 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4581C>T (p.Ile1527=) |
single nucleotide variant |
not provided [RCV001479281] |
Chr10:71740914 [GRCh38] Chr10:73500671 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4210-5C>T |
single nucleotide variant |
not provided [RCV001480758] |
Chr10:71738493 [GRCh38] Chr10:73498250 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-4A>C |
single nucleotide variant |
not provided [RCV001480760] |
Chr10:71725368 [GRCh38] Chr10:73485125 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1141-20C>T |
single nucleotide variant |
not provided [RCV001456241] |
Chr10:71645811 [GRCh38] Chr10:73405568 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.430-9C>T |
single nucleotide variant |
not provided [RCV001398532] |
Chr10:71566733 [GRCh38] Chr10:73326490 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5418C>T (p.Asp1806=) |
single nucleotide variant |
not provided [RCV001398533] |
Chr10:71784336 [GRCh38] Chr10:73544093 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4317T>C (p.Ala1439=) |
single nucleotide variant |
not provided [RCV001424143] |
Chr10:71738605 [GRCh38] Chr10:73498362 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9738+9_9738+10del |
deletion |
not provided [RCV001400699] |
Chr10:71813357..71813358 [GRCh38] Chr10:73573114..73573115 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9165T>C (p.Ser3055=) |
single nucleotide variant |
not provided [RCV001503965] |
Chr10:71811402 [GRCh38] Chr10:73571159 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3618C>T (p.Pro1206=) |
single nucleotide variant |
not provided [RCV001437342] |
Chr10:71730507 [GRCh38] Chr10:73490264 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8067C>T (p.Leu2689=) |
single nucleotide variant |
not provided [RCV001424022] |
Chr10:71806170 [GRCh38] Chr10:73565927 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3220+10A>G |
single nucleotide variant |
not provided [RCV001393652] |
Chr10:71709221 [GRCh38] Chr10:73468978 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6060C>T (p.Thr2020=) |
single nucleotide variant |
not provided [RCV001404797] |
Chr10:71791142 [GRCh38] Chr10:73550899 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6156G>A (p.Thr2052=) |
single nucleotide variant |
not provided [RCV001441247] |
Chr10:71791238 [GRCh38] Chr10:73550995 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5068-6C>T |
single nucleotide variant |
not provided [RCV001404875] |
Chr10:71778183 [GRCh38] Chr10:73537940 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4209+9C>T |
single nucleotide variant |
not provided [RCV001494137] |
Chr10:71734667 [GRCh38] Chr10:73494424 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9738+7G>C |
single nucleotide variant |
not provided [RCV001476985] |
Chr10:71813355 [GRCh38] Chr10:73573112 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7363-8C>T |
single nucleotide variant |
not provided [RCV001501101] |
Chr10:71800628 [GRCh38] Chr10:73560385 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2895G>A (p.Val965=) |
single nucleotide variant |
not provided [RCV001435154] |
Chr10:71705072 [GRCh38] Chr10:73464829 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9199-4G>C |
single nucleotide variant |
not provided [RCV001393879] |
Chr10:71811507 [GRCh38] Chr10:73571264 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6495T>C (p.Asp2165=) |
single nucleotide variant |
not provided [RCV001483914] |
Chr10:71793423 [GRCh38] Chr10:73553180 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2733+9_2733+10del |
microsatellite |
not provided [RCV001483923] |
Chr10:71702700..71702701 [GRCh38] Chr10:73462457..73462458 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3339G>A (p.Glu1113=) |
single nucleotide variant |
not provided [RCV001468123] |
Chr10:71712783 [GRCh38] Chr10:73472540 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.36C>G (p.Ala12=) |
single nucleotide variant |
not provided [RCV001468174] |
Chr10:71439867 [GRCh38] Chr10:73199624 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9389_9390del (p.Pro3130fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001706732]|not provided [RCV001384471] |
Chr10:71812488..71812489 [GRCh38] Chr10:73572245..73572246 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1845C>T (p.Tyr615=) |
single nucleotide variant |
not provided [RCV001401186] |
Chr10:71679479 [GRCh38] Chr10:73439236 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9167del (p.Val3056fs) |
deletion |
not provided [RCV001386494] |
Chr10:71811404 [GRCh38] Chr10:73571161 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.501C>T (p.Val167=) |
single nucleotide variant |
not provided [RCV001489029] |
Chr10:71566813 [GRCh38] Chr10:73326570 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1653G>T (p.Val551=) |
single nucleotide variant |
not provided [RCV001489117] |
Chr10:71677594 [GRCh38] Chr10:73437351 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6504T>C (p.Asn2168=) |
single nucleotide variant |
not provided [RCV001416378] |
Chr10:71793432 [GRCh38] Chr10:73553189 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8229C>A (p.Arg2743=) |
single nucleotide variant |
not provided [RCV001416388] |
Chr10:71807327 [GRCh38] Chr10:73567084 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9486G>C (p.Leu3162=) |
single nucleotide variant |
not provided [RCV001494515] |
Chr10:71812585 [GRCh38] Chr10:73572342 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8640T>C (p.Leu2880=) |
single nucleotide variant |
not provided [RCV001499547] |
Chr10:71807925 [GRCh38] Chr10:73567682 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7224+10C>T |
single nucleotide variant |
not provided [RCV001481062] |
Chr10:71799290 [GRCh38] Chr10:73559047 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7482+2T>C |
single nucleotide variant |
not provided [RCV001379396] |
Chr10:71800757 [GRCh38] Chr10:73560514 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.146-7A>G |
single nucleotide variant |
not provided [RCV001437750] |
Chr10:71510075 [GRCh38] Chr10:73269832 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5658C>T (p.Leu1886=) |
single nucleotide variant |
not provided [RCV001419119] |
Chr10:71785046 [GRCh38] Chr10:73544803 [GRCh37] Chr10:10q22.1 |
likely benign |
NC_000010.10:g.(?_73494902)_73501606del |
deletion |
not provided [RCV001379256] |
|
likely pathogenic |
NC_000010.10:g.(?_73269819)_(73270989_?)del |
deletion |
not provided [RCV001386263] |
Chr10:73269819..73270989 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.471A>G (p.Thr157=) |
single nucleotide variant |
not provided [RCV001437425] |
Chr10:71566783 [GRCh38] Chr10:73326540 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7705C>A (p.Arg2569=) |
single nucleotide variant |
not provided [RCV001402478] |
Chr10:71803253 [GRCh38] Chr10:73563010 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7557T>C (p.Tyr2519=) |
single nucleotide variant |
not provided [RCV001477165] |
Chr10:71802972 [GRCh38] Chr10:73562729 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9634-3dup |
duplication |
not provided [RCV001515995] |
Chr10:71813236..71813237 [GRCh38] Chr10:73572993..73572994 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3204C>T (p.Leu1068=) |
single nucleotide variant |
not provided [RCV001456549] |
Chr10:71709195 [GRCh38] Chr10:73468952 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6780G>A (p.Val2260=) |
single nucleotide variant |
not provided [RCV001456552] |
Chr10:71797171 [GRCh38] Chr10:73556928 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2289+8C>T |
single nucleotide variant |
not provided [RCV001456568] |
Chr10:71694267 [GRCh38] Chr10:73454024 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6204C>T (p.Thr2068=) |
single nucleotide variant |
not provided [RCV001481105] |
Chr10:71791286 [GRCh38] Chr10:73551043 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1176G>A (p.Gly392=) |
single nucleotide variant |
not provided [RCV001416880] |
Chr10:71645866 [GRCh38] Chr10:73405623 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9360C>T (p.Thr3120=) |
single nucleotide variant |
not provided [RCV001484102] |
Chr10:71811995 [GRCh38] Chr10:73571752 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3967C>T (p.Leu1323=) |
single nucleotide variant |
not provided [RCV001468308] |
Chr10:71732238 [GRCh38] Chr10:73491995 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.987A>G (p.Thr329=) |
single nucleotide variant |
not provided [RCV001416917] |
Chr10:71617246 [GRCh38] Chr10:73377003 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9993C>T (p.Ser3331=) |
single nucleotide variant |
not provided [RCV001472500] |
Chr10:71815206 [GRCh38] Chr10:73574963 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4140G>A (p.Glu1380=) |
single nucleotide variant |
not provided [RCV001426715] |
Chr10:71734275 [GRCh38] Chr10:73494032 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-19G>A |
single nucleotide variant |
not provided [RCV001428353] |
Chr10:71725353 [GRCh38] Chr10:73485110 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9711C>G (p.Ala3237=) |
single nucleotide variant |
not provided [RCV001405329] |
Chr10:71813321 [GRCh38] Chr10:73573078 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9426G>T (p.Leu3142=) |
single nucleotide variant |
not provided [RCV001497431] |
Chr10:71812525 [GRCh38] Chr10:73572282 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6050-1G>C |
single nucleotide variant |
not provided [RCV001377827] |
Chr10:71791131 [GRCh38] Chr10:73550888 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.5536G>A (p.Asp1846Asn) |
single nucleotide variant |
not provided [RCV001756576]|not specified [RCV002469410] |
Chr10:71784924 [GRCh38] Chr10:73544681 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.805C>T (p.Arg269Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002248478]|Pituitary adenoma 5, multiple types [RCV003475310] |
Chr10:71577965 [GRCh38] Chr10:73337722 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3107-15C>T |
single nucleotide variant |
not provided [RCV003108496] |
Chr10:71709083 [GRCh38] Chr10:73468840 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5913C>T (p.Asn1971=) |
single nucleotide variant |
not provided [RCV003108711] |
Chr10:71789032 [GRCh38] Chr10:73548789 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1027G>A (p.Asp343Asn) |
single nucleotide variant |
not provided [RCV003108360] |
Chr10:71617286 [GRCh38] Chr10:73377043 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6470C>A (p.Thr2157Lys) |
single nucleotide variant |
not provided [RCV003108597] |
Chr10:71793398 [GRCh38] Chr10:73553155 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.287A>T (p.Glu96Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002251154] |
Chr10:71510223 [GRCh38] Chr10:73269980 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9257T>G (p.Met3086Arg) |
single nucleotide variant |
not provided [RCV001726819] |
Chr10:71811569 [GRCh38] Chr10:73571326 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6992T>C (p.Val2331Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002248479] |
Chr10:71798516 [GRCh38] Chr10:73558273 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001726514]|Usher syndrome type 1D [RCV002471101]|not provided [RCV001871961] |
Chr10:71793483 [GRCh38] Chr10:73553240 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.1291-1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001726513]|Usher syndrome type 1D [RCV002471100] |
Chr10:71646458 [GRCh38] Chr10:73406215 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.9058C>T (p.Arg3020Cys) |
single nucleotide variant |
not provided [RCV001732490] |
Chr10:71810550 [GRCh38] Chr10:73570307 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.2761del (p.Gly920_Leu921insTer) |
deletion |
not specified [RCV002247064] |
Chr10:71704937 [GRCh38] Chr10:73464694 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9461A>T (p.Glu3154Val) |
single nucleotide variant |
not specified [RCV002247065] |
Chr10:71812560 [GRCh38] Chr10:73572317 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6379G>T (p.Val2127Phe) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002273330] |
Chr10:71793307 [GRCh38] Chr10:73553064 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.1027G>T (p.Asp343Tyr) |
single nucleotide variant |
not provided [RCV001756819] |
Chr10:71617286 [GRCh38] Chr10:73377043 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9296del (p.Lys3099fs) |
deletion |
not provided [RCV001780467] |
Chr10:71811729 [GRCh38] Chr10:73571486 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.5001C>A (p.Asn1667Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002251246] |
Chr10:71777835 [GRCh38] Chr10:73537592 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3431-1G>A |
single nucleotide variant |
Usher syndrome type 1D [RCV002250926] |
Chr10:71725371 [GRCh38] Chr10:73485128 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6254_6256delinsCTACTCCCTTTTCCC (p.Gly2085_Phe2086delinsAlaThrProPheSerLeu) |
indel |
not provided [RCV001758573] |
Chr10:71793182..71793184 [GRCh38] Chr10:73552939..73552941 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6643G>A (p.Val2215Met) |
single nucleotide variant |
not provided [RCV001779719] |
Chr10:71793571 [GRCh38] Chr10:73553328 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.101A>G (p.His34Arg) |
single nucleotide variant |
not provided [RCV001769308] |
Chr10:71446351 [GRCh38] Chr10:73206108 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4787G>A (p.Arg1596His) |
single nucleotide variant |
Inborn genetic diseases [RCV002543927]|not provided [RCV001754010] |
Chr10:71741863 [GRCh38] Chr10:73501620 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4825G>A (p.Glu1609Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003163841]|not provided [RCV001763142] |
Chr10:71741901 [GRCh38] Chr10:73501658 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6253_6254insC (p.Gly2085fs) |
insertion |
Usher syndrome type 1D [RCV001775047] |
Chr10:71793181..71793182 [GRCh38] Chr10:73552938..73552939 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7304C>T (p.Ala2435Val) |
single nucleotide variant |
not provided [RCV001772905] |
Chr10:71799571 [GRCh38] Chr10:73559328 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5128A>G (p.Ile1710Val) |
single nucleotide variant |
not provided [RCV002280477] |
Chr10:71778249 [GRCh38] Chr10:73538006 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4807G>T (p.Val1603Leu) |
single nucleotide variant |
not provided [RCV001763141] |
Chr10:71741883 [GRCh38] Chr10:73501640 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9557G>A (p.Arg3186Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002503201]|not provided [RCV001754528] |
Chr10:71812814 [GRCh38] Chr10:73572571 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.352G>A (p.Val118Met) |
single nucleotide variant |
not provided [RCV001773349] |
Chr10:71511135 [GRCh38] Chr10:73270892 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7831T>C (p.Phe2611Leu) |
single nucleotide variant |
not provided [RCV001773863] |
Chr10:71803379 [GRCh38] Chr10:73563136 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.227G>A (p.Arg76His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002488560]|not provided [RCV001774009] |
Chr10:71510163 [GRCh38] Chr10:73269920 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4546A>G (p.Thr1516Ala) |
single nucleotide variant |
not provided [RCV001774019] |
Chr10:71740879 [GRCh38] Chr10:73500636 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3366G>T (p.Leu1122Phe) |
single nucleotide variant |
not provided [RCV001752699] |
Chr10:71712810 [GRCh38] Chr10:73472567 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5873T>C (p.Leu1958Pro) |
single nucleotide variant |
not provided [RCV001768469] |
Chr10:71788992 [GRCh38] Chr10:73548749 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5771T>A (p.Leu1924Gln) |
single nucleotide variant |
not provided [RCV001752015] |
Chr10:71785689 [GRCh38] Chr10:73545446 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9244C>G (p.Leu3082Val) |
single nucleotide variant |
not provided [RCV001754058] |
Chr10:71811556 [GRCh38] Chr10:73571313 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9604G>A (p.Gly3202Ser) |
single nucleotide variant |
not provided [RCV001764796] |
Chr10:71812861 [GRCh38] Chr10:73572618 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9512G>T (p.Gly3171Val) |
single nucleotide variant |
not provided [RCV001765086] |
Chr10:71812769 [GRCh38] Chr10:73572526 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3842T>C (p.Met1281Thr) |
single nucleotide variant |
not provided [RCV001760987] |
Chr10:71732113 [GRCh38] Chr10:73491870 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2171G>C (p.Arg724Pro) |
single nucleotide variant |
not provided [RCV001761046] |
Chr10:71690579 [GRCh38] Chr10:73450336 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7843C>A (p.Pro2615Thr) |
single nucleotide variant |
not provided [RCV001769047] |
Chr10:71803391 [GRCh38] Chr10:73563148 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2158C>T (p.Arg720Trp) |
single nucleotide variant |
not provided [RCV001769127] |
Chr10:71690566 [GRCh38] Chr10:73450323 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4538T>C (p.Leu1513Pro) |
single nucleotide variant |
not provided [RCV001761458] |
Chr10:71740871 [GRCh38] Chr10:73500628 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1648A>C (p.Asn550His) |
single nucleotide variant |
not provided [RCV001760662] |
Chr10:71677589 [GRCh38] Chr10:73437346 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1234C>T (p.Arg412Cys) |
single nucleotide variant |
not provided [RCV001733270] |
Chr10:71645924 [GRCh38] Chr10:73405681 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7128C>A (p.Asp2376Glu) |
single nucleotide variant |
not provided [RCV001761047] |
Chr10:71799184 [GRCh38] Chr10:73558941 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3211G>A (p.Glu1071Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001809327] |
Chr10:71709202 [GRCh38] Chr10:73468959 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7723G>A (p.Glu2575Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001795564]|not provided [RCV002034655]|not specified [RCV002222727] |
Chr10:71803271 [GRCh38] Chr10:73563028 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1142del (p.Gly381fs) |
deletion |
not provided [RCV001780468] |
|
pathogenic |
NM_022124.6(CDH23):c.346C>T (p.Arg116Trp) |
single nucleotide variant |
not provided [RCV001757154] |
Chr10:71511129 [GRCh38] Chr10:73270886 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7873-8C>G |
single nucleotide variant |
not provided [RCV001764077] |
Chr10:71805798 [GRCh38] Chr10:73565555 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6512G>A (p.Arg2171His) |
single nucleotide variant |
Meniere disease [RCV001797191]|not provided [RCV002568142] |
Chr10:71793440 [GRCh38] Chr10:73553197 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.5782G>C (p.Val1928Leu) |
single nucleotide variant |
not provided [RCV001787682] |
Chr10:71785700 [GRCh38] Chr10:73545457 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9638C>T (p.Ser3213Leu) |
single nucleotide variant |
not provided [RCV001797217] |
Chr10:71813248 [GRCh38] Chr10:73573005 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3492del (p.Leu1166fs) |
deletion |
Ear malformation [RCV001814325] |
Chr10:71725432 [GRCh38] Chr10:73485189 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3220G>A (p.Asp1074Asn) |
single nucleotide variant |
not provided [RCV001758188] |
Chr10:71709211 [GRCh38] Chr10:73468968 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1846G>A (p.Glu616Lys) |
single nucleotide variant |
not provided [RCV001797499] |
Chr10:71679480 [GRCh38] Chr10:73439237 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4870A>C (p.Ile1624Leu) |
single nucleotide variant |
not provided [RCV001758396] |
Chr10:71777704 [GRCh38] Chr10:73537461 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6255_6256insCTCCCTTT (p.Phe2086fs) |
insertion |
Usher syndrome type 1D [RCV001775041] |
Chr10:71793183..71793184 [GRCh38] Chr10:73552940..73552941 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.5908G>A (p.Glu1970Lys) |
single nucleotide variant |
Ear malformation [RCV001814476] |
Chr10:71789027 [GRCh38] Chr10:73548784 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6445C>T (p.Arg2149Trp) |
single nucleotide variant |
not provided [RCV001806549] |
Chr10:71793373 [GRCh38] Chr10:73553130 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8140G>T (p.Asp2714Tyr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001809328] |
Chr10:71806243 [GRCh38] Chr10:73566000 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4104+1G>T |
single nucleotide variant |
not provided [RCV001822119] |
Chr10:71732376 [GRCh38] Chr10:73492133 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2867A>G (p.Glu956Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002071934]|Ear malformation [RCV001814384] |
Chr10:71705044 [GRCh38] Chr10:73464801 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6841G>A (p.Val2281Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001806230]|not provided [RCV002568889] |
Chr10:71798365 [GRCh38] Chr10:73558122 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3430+1G>A |
single nucleotide variant |
not provided [RCV001999349] |
Chr10:71724106 [GRCh38] Chr10:73483863 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4756G>C (p.Ala1586Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001808288] |
Chr10:71741832 [GRCh38] Chr10:73501589 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7363-8C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001808885] |
Chr10:71800628 [GRCh38] Chr10:73560385 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6895A>G (p.Thr2299Ala) |
single nucleotide variant |
not provided [RCV001970546] |
Chr10:71798419 [GRCh38] Chr10:73558176 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7288G>A (p.Asp2430Asn) |
single nucleotide variant |
not provided [RCV002008405] |
Chr10:71799555 [GRCh38] Chr10:73559312 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1004A>T (p.Asn335Ile) |
single nucleotide variant |
not provided [RCV002003686] |
Chr10:71617263 [GRCh38] Chr10:73377020 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2418C>A (p.Asp806Glu) |
single nucleotide variant |
not provided [RCV001928875] |
Chr10:71702042 [GRCh38] Chr10:73461799 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9517T>G (p.Phe3173Val) |
single nucleotide variant |
not provided [RCV001914343] |
Chr10:71812774 [GRCh38] Chr10:73572531 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.146-1G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001823212] |
Chr10:71510081 [GRCh38] Chr10:73269838 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.5992G>A (p.Val1998Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001823252] |
Chr10:71790356 [GRCh38] Chr10:73550113 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6725T>A (p.Val2242Glu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001823297] |
Chr10:71797116 [GRCh38] Chr10:73556873 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4430G>A (p.Gly1477Asp) |
single nucleotide variant |
not provided [RCV001971388] |
Chr10:71739714 [GRCh38] Chr10:73499471 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2242G>T (p.Ala748Ser) |
single nucleotide variant |
not provided [RCV001913654] |
Chr10:71694212 [GRCh38] Chr10:73453969 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7928G>A (p.Gly2643Asp) |
single nucleotide variant |
not provided [RCV001863476] |
Chr10:71805861 [GRCh38] Chr10:73565618 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7790T>A (p.Leu2597His) |
single nucleotide variant |
not provided [RCV001971064] |
Chr10:71803338 [GRCh38] Chr10:73563095 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1820G>A (p.Gly607Asp) |
single nucleotide variant |
not provided [RCV001985567] |
Chr10:71679454 [GRCh38] Chr10:73439211 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9078-7C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001823220] |
Chr10:71811308 [GRCh38] Chr10:73571065 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2956del (p.Leu986fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001823241] |
Chr10:71706899 [GRCh38] Chr10:73466656 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8782T>G (p.Phe2928Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001823271] |
Chr10:71809879 [GRCh38] Chr10:73569636 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3347C>T (p.Pro1116Leu) |
single nucleotide variant |
not provided [RCV001971068] |
Chr10:71712791 [GRCh38] Chr10:73472548 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2362G>T (p.Val788Leu) |
single nucleotide variant |
not provided [RCV002009235] |
Chr10:71695490 [GRCh38] Chr10:73455247 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9194T>C (p.Leu3065Pro) |
single nucleotide variant |
not provided [RCV001891455] |
Chr10:71811431 [GRCh38] Chr10:73571188 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8507T>C (p.Leu2836Pro) |
single nucleotide variant |
not provided [RCV002045321] |
Chr10:71807714 [GRCh38] Chr10:73567471 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8433G>A (p.Trp2811Ter) |
single nucleotide variant |
not provided [RCV001864465] |
Chr10:71807640 [GRCh38] Chr10:73567397 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.9737A>G (p.Glu3246Gly) |
single nucleotide variant |
not provided [RCV001875017] |
Chr10:71813347 [GRCh38] Chr10:73573104 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8749T>C (p.Phe2917Leu) |
single nucleotide variant |
not provided [RCV001946284] |
Chr10:71809846 [GRCh38] Chr10:73569603 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2156T>C (p.Phe719Ser) |
single nucleotide variant |
not provided [RCV001984972] |
Chr10:71690564 [GRCh38] Chr10:73450321 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4988A>G (p.Asp1663Gly) |
single nucleotide variant |
not provided [RCV001915429] |
Chr10:71777822 [GRCh38] Chr10:73537579 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5916_5917del (p.Pro1973fs) |
microsatellite |
not provided [RCV001927192] |
Chr10:71789032..71789033 [GRCh38] Chr10:73548789..73548790 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002484756]|not provided [RCV001987685] |
Chr10:71646585 [GRCh38] Chr10:73406342 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6533T>A (p.Ile2178Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV003155452]|not provided [RCV001971638] |
Chr10:71793461 [GRCh38] Chr10:73553218 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.1004A>G (p.Asn335Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003348656]|not provided [RCV001984495] |
Chr10:71617263 [GRCh38] Chr10:73377020 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6418T>C (p.Tyr2140His) |
single nucleotide variant |
not provided [RCV001863814] |
Chr10:71793346 [GRCh38] Chr10:73553103 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9958G>A (p.Ala3320Thr) |
single nucleotide variant |
not provided [RCV001928899] |
Chr10:71815171 [GRCh38] Chr10:73574928 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3908T>G (p.Leu1303Arg) |
single nucleotide variant |
not provided [RCV001996348] |
Chr10:71732179 [GRCh38] Chr10:73491936 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4732A>G (p.Met1578Val) |
single nucleotide variant |
not provided [RCV001915237] |
Chr10:71741808 [GRCh38] Chr10:73501565 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8064+8C>T |
single nucleotide variant |
not provided [RCV001969386] |
Chr10:71806005 [GRCh38] Chr10:73565762 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7846A>G (p.Asn2616Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003382713]|not provided [RCV001913692] |
Chr10:71803394 [GRCh38] Chr10:73563151 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1996G>A (p.Asp666Asn) |
single nucleotide variant |
not provided [RCV001873006] |
Chr10:71687656 [GRCh38] Chr10:73447413 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7436A>T (p.Asp2479Val) |
single nucleotide variant |
not provided [RCV001889374] |
Chr10:71800709 [GRCh38] Chr10:73560466 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4489-14C>T |
single nucleotide variant |
not provided [RCV002024378] |
Chr10:71740808 [GRCh38] Chr10:73500565 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8717C>T (p.Thr2906Ile) |
single nucleotide variant |
not provided [RCV001864030] |
Chr10:71808002 [GRCh38] Chr10:73567759 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.223T>C (p.Ser75Pro) |
single nucleotide variant |
not provided [RCV001908677] |
Chr10:71510159 [GRCh38] Chr10:73269916 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6662A>G (p.Asp2221Gly) |
single nucleotide variant |
not provided [RCV002007930] |
Chr10:71793590 [GRCh38] Chr10:73553347 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7450G>A (p.Val2484Ile) |
single nucleotide variant |
not provided [RCV001929484] |
Chr10:71800723 [GRCh38] Chr10:73560480 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3220+1G>T |
single nucleotide variant |
not provided [RCV002021004] |
Chr10:71709212 [GRCh38] Chr10:73468969 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2059+16G>A |
single nucleotide variant |
not provided [RCV002024457] |
Chr10:71687735 [GRCh38] Chr10:73447492 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9935T>C (p.Leu3312Pro) |
single nucleotide variant |
not provided [RCV001971324] |
Chr10:71815148 [GRCh38] Chr10:73574905 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9337G>A (p.Asp3113Asn) |
single nucleotide variant |
not provided [RCV001969342] |
Chr10:71811972 [GRCh38] Chr10:73571729 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.366_367delinsCC (p.Gly123Arg) |
indel |
not provided [RCV001928668] |
Chr10:71511149..71511150 [GRCh38] Chr10:73270906..73270907 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4841T>C (p.Leu1614Pro) |
single nucleotide variant |
not provided [RCV002044820] |
Chr10:71741917 [GRCh38] Chr10:73501674 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6428C>T (p.Thr2143Met) |
single nucleotide variant |
not provided [RCV001948649] |
Chr10:71793356 [GRCh38] Chr10:73553113 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4845G>A (p.Ser1615=) |
single nucleotide variant |
not provided [RCV002034736]|not specified [RCV001844718] |
Chr10:71741921 [GRCh38] Chr10:73501678 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.832+6A>G |
single nucleotide variant |
not provided [RCV001872805] |
Chr10:71577998 [GRCh38] Chr10:73337755 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5981T>C (p.Ile1994Thr) |
single nucleotide variant |
not provided [RCV002008326] |
Chr10:71790345 [GRCh38] Chr10:73550102 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.754-2A>G |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475272]|not provided [RCV002003736] |
Chr10:71577912 [GRCh38] Chr10:73337669 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3178C>A (p.Arg1060=) |
single nucleotide variant |
not provided [RCV002042951] |
Chr10:71709169 [GRCh38] Chr10:73468926 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5368+8G>A |
single nucleotide variant |
not provided [RCV001909864] |
Chr10:71779455 [GRCh38] Chr10:73539212 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4274del (p.Ala1425fs) |
deletion |
not provided [RCV002039990] |
Chr10:71738562 [GRCh38] Chr10:73498319 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3566G>A (p.Arg1189Gln) |
single nucleotide variant |
not provided [RCV002041528] |
Chr10:71725507 [GRCh38] Chr10:73485264 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3130A>T (p.Ser1044Cys) |
single nucleotide variant |
not provided [RCV002043060] |
Chr10:71709121 [GRCh38] Chr10:73468878 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6433G>A (p.Val2145Met) |
single nucleotide variant |
not provided [RCV001969009] |
Chr10:71793361 [GRCh38] Chr10:73553118 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3295C>T (p.Arg1099Trp) |
single nucleotide variant |
not provided [RCV001985288] |
Chr10:71712739 [GRCh38] Chr10:73472496 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8227C>T (p.Arg2743Cys) |
single nucleotide variant |
not provided [RCV001985789] |
Chr10:71807325 [GRCh38] Chr10:73567082 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3972G>C (p.Glu1324Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001823249] |
Chr10:71732243 [GRCh38] Chr10:73492000 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4884T>A (p.Asn1628Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001823213] |
Chr10:71777718 [GRCh38] Chr10:73537475 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8722G>C (p.Gly2908Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001823298] |
Chr10:71808007 [GRCh38] Chr10:73567764 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6343C>A (p.Arg2115Ser) |
single nucleotide variant |
not provided [RCV002002796] |
Chr10:71793271 [GRCh38] Chr10:73553028 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7680G>A (p.Met2560Ile) |
single nucleotide variant |
not provided [RCV002003914] |
Chr10:71803228 [GRCh38] Chr10:73562985 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8309_8316del (p.Ala2770fs) |
deletion |
not provided [RCV001909328] |
Chr10:71807516..71807523 [GRCh38] Chr10:73567273..73567280 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4679A>G (p.Asn1560Ser) |
single nucleotide variant |
not provided [RCV002040753] |
Chr10:71741755 [GRCh38] Chr10:73501512 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8012G>A (p.Gly2671Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001822941] |
Chr10:71805945 [GRCh38] Chr10:73565702 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2401G>T (p.Val801Leu) |
single nucleotide variant |
not provided [RCV001912124] |
Chr10:71702025 [GRCh38] Chr10:73461782 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.478del (p.Asp160fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002052209] |
Chr10:71566790 [GRCh38] Chr10:73326547 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4672G>A (p.Gly1558Arg) |
single nucleotide variant |
not provided [RCV001889829] |
Chr10:71741748 [GRCh38] Chr10:73501505 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3964A>G (p.Ile1322Val) |
single nucleotide variant |
not provided [RCV002011551] |
Chr10:71732235 [GRCh38] Chr10:73491992 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1850G>T (p.Gly617Val) |
single nucleotide variant |
not provided [RCV001945699] |
Chr10:71679484 [GRCh38] Chr10:73439241 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6049+6G>A |
single nucleotide variant |
not provided [RCV002042476] |
Chr10:71790419 [GRCh38] Chr10:73550176 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9345G>A (p.Met3115Ile) |
single nucleotide variant |
not provided [RCV001964945] |
Chr10:71811980 [GRCh38] Chr10:73571737 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.270G>A (p.Arg90=) |
single nucleotide variant |
not provided [RCV001968423] |
Chr10:71510206 [GRCh38] Chr10:73269963 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5980A>T (p.Ile1994Phe) |
single nucleotide variant |
not provided [RCV002039380] |
Chr10:71790344 [GRCh38] Chr10:73550101 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4489-1G>A |
single nucleotide variant |
not provided [RCV001984122] |
Chr10:71740821 [GRCh38] Chr10:73500578 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2176+6C>T |
single nucleotide variant |
not provided [RCV002041110] |
Chr10:71690590 [GRCh38] Chr10:73450347 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8057T>C (p.Val2686Ala) |
single nucleotide variant |
not provided [RCV002543331]|not specified [RCV001844719] |
Chr10:71805990 [GRCh38] Chr10:73565747 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3431-2A>G |
single nucleotide variant |
not provided [RCV002025577] |
Chr10:71725370 [GRCh38] Chr10:73485127 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.9059G>A (p.Arg3020His) |
single nucleotide variant |
not provided [RCV001985817] |
Chr10:71810551 [GRCh38] Chr10:73570308 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5774C>G (p.Thr1925Ser) |
single nucleotide variant |
not provided [RCV001965579] |
Chr10:71785692 [GRCh38] Chr10:73545449 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.596A>G (p.Gln199Arg) |
single nucleotide variant |
not provided [RCV001964235] |
Chr10:71566908 [GRCh38] Chr10:73326665 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5752C>T (p.Arg1918Trp) |
single nucleotide variant |
not provided [RCV001927717] |
Chr10:71785670 [GRCh38] Chr10:73545427 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2059+18G>A |
single nucleotide variant |
not provided [RCV002039955] |
Chr10:71687737 [GRCh38] Chr10:73447494 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4855del (p.His1619fs) |
deletion |
not provided [RCV001893864] |
Chr10:71777689 [GRCh38] Chr10:73537446 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8064+20C>T |
single nucleotide variant |
not provided [RCV001928150] |
Chr10:71806017 [GRCh38] Chr10:73565774 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4471G>A (p.Asp1491Asn) |
single nucleotide variant |
not provided [RCV001928775] |
Chr10:71739755 [GRCh38] Chr10:73499512 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9403C>T (p.Pro3135Ser) |
single nucleotide variant |
not provided [RCV002003546] |
Chr10:71812502 [GRCh38] Chr10:73572259 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9633+19C>G |
single nucleotide variant |
not provided [RCV001893274] |
Chr10:71812909 [GRCh38] Chr10:73572666 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4617+1G>A |
single nucleotide variant |
not provided [RCV001969429] |
Chr10:71740951 [GRCh38] Chr10:73500708 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.1521_1542del (p.Leu508fs) |
deletion |
not provided [RCV001863393] |
Chr10:71677459..71677480 [GRCh38] Chr10:73437216..73437237 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.961G>A (p.Asp321Asn) |
single nucleotide variant |
not provided [RCV001945076] |
Chr10:71617220 [GRCh38] Chr10:73376977 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q22.1(chr10:73405588-73406374)x1 |
copy number loss |
Usher syndrome [RCV001825319] |
Chr10:73405588..73406374 [GRCh37] Chr10:10q22.1 |
not provided |
NM_022124.6(CDH23):c.1267A>T (p.Thr423Ser) |
single nucleotide variant |
not provided [RCV001894669] |
Chr10:71645957 [GRCh38] Chr10:73405714 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1162del (p.Val388fs) |
deletion |
not provided [RCV001910082] |
Chr10:71645851 [GRCh38] Chr10:73405608 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4747G>A (p.Gly1583Ser) |
single nucleotide variant |
not provided [RCV002005894]|not specified [RCV003331260] |
Chr10:71741823 [GRCh38] Chr10:73501580 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7136C>T (p.Ser2379Phe) |
single nucleotide variant |
not provided [RCV001927882] |
Chr10:71799192 [GRCh38] Chr10:73558949 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4206+16G>T |
single nucleotide variant |
not provided [RCV002049709] |
Chr10:71734357 [GRCh38] Chr10:73494114 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.6682G>A (p.Glu2228Lys) |
single nucleotide variant |
not provided [RCV001927381] |
Chr10:71793610 [GRCh38] Chr10:73553367 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4483C>T (p.Leu1495Phe) |
single nucleotide variant |
not provided [RCV002043202] |
Chr10:71739767 [GRCh38] Chr10:73499524 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5251C>T (p.Pro1751Ser) |
single nucleotide variant |
not provided [RCV002023792] |
Chr10:71779330 [GRCh38] Chr10:73539087 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.366_367inv (p.Gly123Arg) |
inversion |
not provided [RCV001895093] |
Chr10:71511149..71511150 [GRCh38] Chr10:73270906..73270907 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7115dup (p.Arg2373fs) |
duplication |
not provided [RCV001985433] |
Chr10:71799170..71799171 [GRCh38] Chr10:73558927..73558928 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1085A>G (p.Gln362Arg) |
single nucleotide variant |
not provided [RCV001912945] |
Chr10:71617344 [GRCh38] Chr10:73377101 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6254-3C>T |
single nucleotide variant |
not provided [RCV001948582] |
Chr10:71793179 [GRCh38] Chr10:73552936 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7372T>C (p.Tyr2458His) |
single nucleotide variant |
not provided [RCV001987353] |
Chr10:71800645 [GRCh38] Chr10:73560402 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6961G>A (p.Val2321Met) |
single nucleotide variant |
not provided [RCV001966901] |
Chr10:71798485 [GRCh38] Chr10:73558242 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3371T>G (p.Leu1124Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001823224] |
Chr10:71724046 [GRCh38] Chr10:73483803 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6368G>A (p.Gly2123Glu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001823222] |
Chr10:71793296 [GRCh38] Chr10:73553053 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8500G>A (p.Val2834Ile) |
single nucleotide variant |
not provided [RCV001912227] |
Chr10:71807707 [GRCh38] Chr10:73567464 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7828_7831del (p.Val2610fs) |
deletion |
not provided [RCV001965410] |
Chr10:71803374..71803377 [GRCh38] Chr10:73563131..73563134 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.10042C>T (p.Pro3348Ser) |
single nucleotide variant |
not provided [RCV001914166] |
Chr10:71815255 [GRCh38] Chr10:73575012 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9152A>G (p.Gln3051Arg) |
single nucleotide variant |
not provided [RCV002021596] |
Chr10:71811389 [GRCh38] Chr10:73571146 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.185del (p.Asn62fs) |
deletion |
not provided [RCV001946960] |
Chr10:71510120 [GRCh38] Chr10:73269877 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2587+3A>G |
single nucleotide variant |
not provided [RCV002022765] |
Chr10:71702214 [GRCh38] Chr10:73461971 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2549C>T (p.Ala850Val) |
single nucleotide variant |
not provided [RCV001927663] |
Chr10:71702173 [GRCh38] Chr10:73461930 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73199589)_(73206172_?)dup |
duplication |
not provided [RCV001946247] |
Chr10:73199589..73206172 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9760G>A (p.Glu3254Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002548878]|not provided [RCV002041143] |
Chr10:71814973 [GRCh38] Chr10:73574730 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.451A>G (p.Ile151Val) |
single nucleotide variant |
not provided [RCV002043774] |
Chr10:71566763 [GRCh38] Chr10:73326520 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8090_8095dup (p.Gln2698_Pro2699insArgGln) |
duplication |
not provided [RCV002022006] |
Chr10:71806192..71806193 [GRCh38] Chr10:73565949..73565950 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9633+4A>T |
single nucleotide variant |
not provided [RCV001927861] |
Chr10:71812894 [GRCh38] Chr10:73572651 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8054_8055del (p.Ala2685fs) |
deletion |
not provided [RCV002007098] |
Chr10:71805986..71805987 [GRCh38] Chr10:73565743..73565744 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.9175C>A (p.Pro3059Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002507763]|not provided [RCV001986554] |
Chr10:71811412 [GRCh38] Chr10:73571169 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.11:g.71811714_71811720del |
deletion |
not provided [RCV001912490] |
Chr10:71811711..71811717 [GRCh38] Chr10:73571468..73571474 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4207-1G>C |
single nucleotide variant |
not provided [RCV002038416] |
Chr10:71734655 [GRCh38] Chr10:73494412 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2842G>T (p.Val948Phe) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002492272]|Inborn genetic diseases [RCV002592645]|not provided [RCV001986141] |
Chr10:71705019 [GRCh38] Chr10:73464776 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2117A>G (p.Gln706Arg) |
single nucleotide variant |
not provided [RCV001967396] |
Chr10:71690525 [GRCh38] Chr10:73450282 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2512G>A (p.Ala838Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002562089]|not provided [RCV002002073] |
Chr10:71702136 [GRCh38] Chr10:73461893 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.430A>G (p.Asn144Asp) |
single nucleotide variant |
not provided [RCV002021769] |
Chr10:71566742 [GRCh38] Chr10:73326499 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5354A>T (p.Asp1785Val) |
single nucleotide variant |
not provided [RCV001908311] |
Chr10:71779433 [GRCh38] Chr10:73539190 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6160del (p.His2054fs) |
deletion |
not provided [RCV001908343] |
Chr10:71791240 [GRCh38] Chr10:73550997 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7712_7717del (p.Leu2571_Ser2573delinsPro) |
deletion |
not provided [RCV001969635] |
Chr10:71803260..71803265 [GRCh38] Chr10:73563017..73563022 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2119G>C (p.Glu707Gln) |
single nucleotide variant |
not provided [RCV002042703] |
Chr10:71690527 [GRCh38] Chr10:73450284 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) |
copy number loss |
not specified [RCV002052875] |
Chr10:68735254..78885714 [GRCh37] Chr10:10q21.3-22.3 |
pathogenic |
NM_022124.6(CDH23):c.1744C>A (p.Arg582=) |
single nucleotide variant |
not provided [RCV001966195] |
Chr10:71677685 [GRCh38] Chr10:73437442 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6966C>A (p.Asp2322Glu) |
single nucleotide variant |
not provided [RCV001872398] |
Chr10:71798490 [GRCh38] Chr10:73558247 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6611A>C (p.Asn2204Thr) |
single nucleotide variant |
not provided [RCV001964793] |
Chr10:71793539 [GRCh38] Chr10:73553296 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6712G>A (p.Gly2238Arg) |
single nucleotide variant |
not provided [RCV002020560] |
Chr10:71793640 [GRCh38] Chr10:73553397 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.369G>A (p.Gly123=) |
single nucleotide variant |
not provided [RCV001984276] |
Chr10:71511152 [GRCh38] Chr10:73270909 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1003A>G (p.Asn335Asp) |
single nucleotide variant |
not provided [RCV002021853] |
Chr10:71617262 [GRCh38] Chr10:73377019 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8560G>T (p.Gly2854Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001823272] |
Chr10:71807767 [GRCh38] Chr10:73567524 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4457A>C (p.Asp1486Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001823250] |
Chr10:71739741 [GRCh38] Chr10:73499498 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9553G>A (p.Asp3185Asn) |
single nucleotide variant |
not provided [RCV002037565] |
Chr10:71812810 [GRCh38] Chr10:73572567 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9685T>C (p.Phe3229Leu) |
single nucleotide variant |
not provided [RCV001943832] |
Chr10:71813295 [GRCh38] Chr10:73573052 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7225-2A>G |
single nucleotide variant |
not provided [RCV001999212] |
Chr10:71799490 [GRCh38] Chr10:73559247 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.10006C>A (p.Pro3336Thr) |
single nucleotide variant |
not provided [RCV001982204] |
Chr10:71815219 [GRCh38] Chr10:73574976 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.303_306dup (p.Val103fs) |
duplication |
not provided [RCV002037730] |
Chr10:71510967..71510968 [GRCh38] Chr10:73270724..73270725 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.6023G>T (p.Gly2008Val) |
single nucleotide variant |
not provided [RCV002000515] |
Chr10:71790387 [GRCh38] Chr10:73550144 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5166_5175del (p.Arg1723fs) |
deletion |
not provided [RCV001942291] |
Chr10:71778287..71778296 [GRCh38] Chr10:73538044..73538053 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3037C>T (p.Arg1013Trp) |
single nucleotide variant |
not provided [RCV001991032] |
Chr10:71706980 [GRCh38] Chr10:73466737 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8032C>T (p.Arg2678Cys) |
single nucleotide variant |
not provided [RCV001867221] |
Chr10:71805965 [GRCh38] Chr10:73565722 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8737A>T (p.Ile2913Phe) |
single nucleotide variant |
not provided [RCV001979907] |
Chr10:71809834 [GRCh38] Chr10:73569591 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9994G>A (p.Ala3332Thr) |
single nucleotide variant |
not provided [RCV001961863] |
Chr10:71815207 [GRCh38] Chr10:73574964 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.778G>A (p.Ala260Thr) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475297]|not provided [RCV002038505] |
Chr10:71577938 [GRCh38] Chr10:73337695 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.4946C>T (p.Thr1649Met) |
single nucleotide variant |
not provided [RCV002048158] |
Chr10:71777780 [GRCh38] Chr10:73537537 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1134+18del |
deletion |
not provided [RCV001900529] |
Chr10:71617411 [GRCh38] Chr10:73377168 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5369-2A>G |
single nucleotide variant |
not provided [RCV002038146] |
Chr10:71784285 [GRCh38] Chr10:73544042 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7144C>T (p.Arg2382Trp) |
single nucleotide variant |
not provided [RCV002038932] |
Chr10:71799200 [GRCh38] Chr10:73558957 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6085C>A (p.Arg2029=) |
single nucleotide variant |
not provided [RCV001943191] |
Chr10:71791167 [GRCh38] Chr10:73550924 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7748C>T (p.Ala2583Val) |
single nucleotide variant |
not provided [RCV001997717] |
Chr10:71803296 [GRCh38] Chr10:73563053 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9325C>T (p.Arg3109Cys) |
single nucleotide variant |
not provided [RCV001876380] |
Chr10:71811960 [GRCh38] Chr10:73571717 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6645G>A (p.Val2215=) |
single nucleotide variant |
not provided [RCV002034367] |
Chr10:71793573 [GRCh38] Chr10:73553330 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.5215G>A (p.Asp1739Asn) |
single nucleotide variant |
not provided [RCV001885766] |
Chr10:71779294 [GRCh38] Chr10:73539051 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5502+6T>A |
single nucleotide variant |
not provided [RCV001887332] |
Chr10:71784426 [GRCh38] Chr10:73544183 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73447394)_(73447486_?)del |
deletion |
not provided [RCV001939434] |
Chr10:73447394..73447486 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8821A>G (p.Asn2941Asp) |
single nucleotide variant |
not provided [RCV001944196] |
Chr10:71809918 [GRCh38] Chr10:73569675 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9872C>T (p.Thr3291Met) |
single nucleotide variant |
not provided [RCV001903867] |
Chr10:71815085 [GRCh38] Chr10:73574842 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9328G>A (p.Gly3110Ser) |
single nucleotide variant |
not provided [RCV001903873] |
Chr10:71811963 [GRCh38] Chr10:73571720 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4960C>G (p.Leu1654Val) |
single nucleotide variant |
not provided [RCV001944194] |
Chr10:71777794 [GRCh38] Chr10:73537551 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002486571]|Inborn genetic diseases [RCV003289359]|not provided [RCV001981085] |
Chr10:71705040 [GRCh38] Chr10:73464797 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5192T>C (p.Leu1731Pro) |
single nucleotide variant |
not provided [RCV001941236] |
Chr10:71779271 [GRCh38] Chr10:73539028 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2853_2865del (p.Glu952fs) |
deletion |
not provided [RCV001876586] |
Chr10:71705029..71705041 [GRCh38] Chr10:73464786..73464798 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8070C>G (p.Ile2690Met) |
single nucleotide variant |
not provided [RCV001924401] |
Chr10:71806173 [GRCh38] Chr10:73565930 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5095G>A (p.Asp1699Asn) |
single nucleotide variant |
not provided [RCV001886839] |
Chr10:71778216 [GRCh38] Chr10:73537973 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7939G>A (p.Ala2647Thr) |
single nucleotide variant |
not provided [RCV001887374] |
Chr10:71805872 [GRCh38] Chr10:73565629 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8723-8T>C |
single nucleotide variant |
not provided [RCV001963018] |
Chr10:71809812 [GRCh38] Chr10:73569569 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9198+5C>A |
single nucleotide variant |
not provided [RCV001886528] |
Chr10:71811440 [GRCh38] Chr10:73571197 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9806G>T (p.Arg3269Leu) |
single nucleotide variant |
not provided [RCV002014853] |
Chr10:71815019 [GRCh38] Chr10:73574776 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5378T>C (p.Val1793Ala) |
single nucleotide variant |
not provided [RCV002034923] |
Chr10:71784296 [GRCh38] Chr10:73544053 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5124C>T (p.Thr1708=) |
single nucleotide variant |
not provided [RCV001963042] |
Chr10:71778245 [GRCh38] Chr10:73538002 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_001164375.3(C10orf105):c.*3275T>A |
single nucleotide variant |
not provided [RCV001958563] |
Chr10:71712661 [GRCh38] Chr10:73472418 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.7100G>A (p.Trp2367Ter) |
single nucleotide variant |
not provided [RCV001999763] |
Chr10:71799156 [GRCh38] Chr10:73558913 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7406A>G (p.Asp2469Gly) |
single nucleotide variant |
not provided [RCV001878021] |
Chr10:71800679 [GRCh38] Chr10:73560436 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1277G>A (p.Arg426His) |
single nucleotide variant |
not provided [RCV001887435] |
Chr10:71645967 [GRCh38] Chr10:73405724 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7249G>C (p.Val2417Leu) |
single nucleotide variant |
not provided [RCV001888711] |
Chr10:71799516 [GRCh38] Chr10:73559273 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1133A>C (p.Glu378Ala) |
single nucleotide variant |
not provided [RCV001996596] |
Chr10:71617392 [GRCh38] Chr10:73377149 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8639_8640del (p.Leu2880fs) |
deletion |
not provided [RCV001961977] |
Chr10:71807924..71807925 [GRCh38] Chr10:73567681..73567682 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3644G>A (p.Arg1215His) |
single nucleotide variant |
not provided [RCV001912093] |
Chr10:71730533 [GRCh38] Chr10:73490290 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8866C>A (p.Arg2956Ser) |
single nucleotide variant |
not provided [RCV001878066] |
Chr10:71809963 [GRCh38] Chr10:73569720 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9932C>T (p.Ser3311Leu) |
single nucleotide variant |
not provided [RCV001935801] |
Chr10:71815145 [GRCh38] Chr10:73574902 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73381150)_(73553170_?)del |
deletion |
not provided [RCV001963106] |
Chr10:73381150..73553170 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3248C>G (p.Thr1083Arg) |
single nucleotide variant |
not provided [RCV002017328] |
Chr10:71712692 [GRCh38] Chr10:73472449 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1772C>T (p.Pro591Leu) |
single nucleotide variant |
not provided [RCV001904999] |
Chr10:71679406 [GRCh38] Chr10:73439163 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2290-6T>G |
single nucleotide variant |
not provided [RCV001933238] |
Chr10:71695412 [GRCh38] Chr10:73455169 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.633C>A (p.Asp211Glu) |
single nucleotide variant |
not provided [RCV001937865] |
Chr10:71570798 [GRCh38] Chr10:73330555 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7901_7902del (p.Glu2634fs) |
deletion |
not provided [RCV001941586] |
Chr10:71805833..71805834 [GRCh38] Chr10:73565590..73565591 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8774C>T (p.Pro2925Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003355645]|not provided [RCV001925624] |
Chr10:71809871 [GRCh38] Chr10:73569628 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8308+1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475292]|not provided [RCV002026411] |
Chr10:71807407 [GRCh38] Chr10:73567164 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.1198A>T (p.Ile400Phe) |
single nucleotide variant |
not provided [RCV001930637] |
Chr10:71645888 [GRCh38] Chr10:73405645 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6536A>G (p.Gln2179Arg) |
single nucleotide variant |
not provided [RCV001916081] |
Chr10:71793464 [GRCh38] Chr10:73553221 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.317C>A (p.Ser106Tyr) |
single nucleotide variant |
not provided [RCV001956846] |
Chr10:71510982 [GRCh38] Chr10:73270739 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5398G>T (p.Val1800Leu) |
single nucleotide variant |
not provided [RCV001977790] |
Chr10:71784316 [GRCh38] Chr10:73544073 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5368+1G>A |
single nucleotide variant |
not provided [RCV001996540] |
Chr10:71779448 [GRCh38] Chr10:73539205 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.5187+2T>C |
single nucleotide variant |
not provided [RCV001998209] |
Chr10:71778310 [GRCh38] Chr10:73538067 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.1857A>C (p.Gly619=) |
single nucleotide variant |
not provided [RCV002038770] |
Chr10:71679491 [GRCh38] Chr10:73439248 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.856del (p.Leu286fs) |
deletion |
not provided [RCV002000208] |
Chr10:71615525 [GRCh38] Chr10:73375282 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1612G>C (p.Gly538Arg) |
single nucleotide variant |
not provided [RCV001973690] |
Chr10:71677553 [GRCh38] Chr10:73437310 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.967C>T (p.Arg323Cys) |
single nucleotide variant |
not provided [RCV001936371] |
Chr10:71617226 [GRCh38] Chr10:73376983 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7210C>T (p.Gln2404Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475219]|not provided [RCV001960582] |
Chr10:71799266 [GRCh38] Chr10:73559023 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1514+1G>A |
single nucleotide variant |
not provided [RCV001999649] |
Chr10:71675177 [GRCh38] Chr10:73434934 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2995G>A (p.Val999Met) |
single nucleotide variant |
not provided [RCV002037546] |
Chr10:71706938 [GRCh38] Chr10:73466695 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9708A>C (p.Lys3236Asn) |
single nucleotide variant |
not provided [RCV002000722] |
Chr10:71813318 [GRCh38] Chr10:73573075 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.748C>T (p.Pro250Ser) |
single nucleotide variant |
not provided [RCV002038032] |
Chr10:71570913 [GRCh38] Chr10:73330670 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4604T>A (p.Val1535Asp) |
single nucleotide variant |
not provided [RCV002001111] |
Chr10:71740937 [GRCh38] Chr10:73500694 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8563G>A (p.Val2855Met) |
single nucleotide variant |
not provided [RCV001887994] |
Chr10:71807848 [GRCh38] Chr10:73567605 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.934del (p.Ile311_Leu312insTer) |
deletion |
not provided [RCV001975169] |
Chr10:71615604 [GRCh38] Chr10:73375361 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.355A>G (p.Asn119Asp) |
single nucleotide variant |
not provided [RCV001995548] |
Chr10:71511138 [GRCh38] Chr10:73270895 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4033C>G (p.Gln1345Glu) |
single nucleotide variant |
not provided [RCV001922616] |
Chr10:71732304 [GRCh38] Chr10:73492061 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3254C>T (p.Thr1085Ile) |
single nucleotide variant |
not provided [RCV001932279] |
Chr10:71712698 [GRCh38] Chr10:73472455 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3579+2T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV003136378]|Pituitary adenoma 5, multiple types [RCV003475245]|Usher syndrome [RCV003230720]|not provided [RCV001956332] |
Chr10:71725522 [GRCh38] Chr10:73485279 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.7632G>C (p.Leu2544Phe) |
single nucleotide variant |
not provided [RCV002014295] |
Chr10:71803047 [GRCh38] Chr10:73562804 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8674C>T (p.Arg2892Trp) |
single nucleotide variant |
not provided [RCV001917873] |
Chr10:71807959 [GRCh38] Chr10:73567716 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.806G>T (p.Arg269Leu) |
single nucleotide variant |
not provided [RCV001919321] |
Chr10:71577966 [GRCh38] Chr10:73337723 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73490206)_(73768229_?)dup |
duplication |
not provided [RCV001955739] |
Chr10:73490206..73768229 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8689G>A (p.Asp2897Asn) |
single nucleotide variant |
not provided [RCV001936973] |
Chr10:71807974 [GRCh38] Chr10:73567731 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4447A>G (p.Arg1483Gly) |
single nucleotide variant |
not provided [RCV002030702] |
Chr10:71739731 [GRCh38] Chr10:73499488 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7663G>T (p.Ala2555Ser) |
single nucleotide variant |
not provided [RCV001919155] |
Chr10:71803211 [GRCh38] Chr10:73562968 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4838C>T (p.Thr1613Ile) |
single nucleotide variant |
not provided [RCV001935079] |
Chr10:71741914 [GRCh38] Chr10:73501671 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73437203)_(73439259_?)del |
deletion |
not provided [RCV001972857] |
Chr10:73437203..73439259 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3713_3714del (p.Ser1238fs) |
microsatellite |
not provided [RCV001956298] |
Chr10:71730600..71730601 [GRCh38] Chr10:73490357..73490358 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7872+2T>C |
single nucleotide variant |
not provided [RCV002048284] |
Chr10:71803422 [GRCh38] Chr10:73563179 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6048C>T (p.Thr2016=) |
single nucleotide variant |
not provided [RCV001954624] |
Chr10:71790412 [GRCh38] Chr10:73550169 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7805T>A (p.Ile2602Asn) |
single nucleotide variant |
not provided [RCV001995066] |
Chr10:71803353 [GRCh38] Chr10:73563110 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7900G>A (p.Glu2634Lys) |
single nucleotide variant |
not provided [RCV001937048] |
Chr10:71805833 [GRCh38] Chr10:73565590 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8366G>A (p.Arg2789Gln) |
single nucleotide variant |
not provided [RCV001882300] |
Chr10:71807573 [GRCh38] Chr10:73567330 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3866C>T (p.Ala1289Val) |
single nucleotide variant |
not provided [RCV001902179] |
Chr10:71732137 [GRCh38] Chr10:73491894 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3169G>C (p.Gly1057Arg) |
single nucleotide variant |
not provided [RCV001876402] |
Chr10:71709160 [GRCh38] Chr10:73468917 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73569557)_(73594282_?)dup |
duplication |
Sphingolipid activator protein 1 deficiency [RCV001877719] |
Chr10:73569557..73594282 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8179-1G>A |
single nucleotide variant |
not provided [RCV001995708] |
Chr10:71807276 [GRCh38] Chr10:73567033 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.1325G>A (p.Gly442Asp) |
single nucleotide variant |
not provided [RCV001922517] |
Chr10:71646493 [GRCh38] Chr10:73406250 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2059+4C>G |
single nucleotide variant |
not provided [RCV001899449] |
Chr10:71687723 [GRCh38] Chr10:73447480 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5770C>A (p.Leu1924Met) |
single nucleotide variant |
not provided [RCV002010749] |
Chr10:71785688 [GRCh38] Chr10:73545445 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4382G>T (p.Gly1461Val) |
single nucleotide variant |
not provided [RCV001879290] |
Chr10:71739666 [GRCh38] Chr10:73499423 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3507G>C (p.Glu1169Asp) |
single nucleotide variant |
not provided [RCV001966941] |
Chr10:71725448 [GRCh38] Chr10:73485205 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7990T>A (p.Phe2664Ile) |
single nucleotide variant |
not provided [RCV001936530] |
Chr10:71805923 [GRCh38] Chr10:73565680 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5503-2A>G |
single nucleotide variant |
not provided [RCV001975620] |
Chr10:71784889 [GRCh38] Chr10:73544646 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.911C>A (p.Pro304His) |
single nucleotide variant |
not provided [RCV002010796] |
Chr10:71615582 [GRCh38] Chr10:73375339 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2059G>T (p.Gly687Ter) |
single nucleotide variant |
not provided [RCV002012069] |
Chr10:71687719 [GRCh38] Chr10:73447476 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.5306_5307del (p.His1769fs) |
deletion |
not provided [RCV002047280] |
Chr10:71779385..71779386 [GRCh38] Chr10:73539142..73539143 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.9098A>G (p.Glu3033Gly) |
single nucleotide variant |
not provided [RCV001899739] |
Chr10:71811335 [GRCh38] Chr10:73571092 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.136_137del (p.Thr46fs) |
microsatellite |
not provided [RCV001930380] |
Chr10:71446384..71446385 [GRCh38] Chr10:73206141..73206142 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.9720C>G (p.Cys3240Trp) |
single nucleotide variant |
not provided [RCV001915750] |
Chr10:71813330 [GRCh38] Chr10:73573087 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1931T>C (p.Met644Thr) |
single nucleotide variant |
not provided [RCV001971961] |
Chr10:71682517 [GRCh38] Chr10:73442274 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9973C>A (p.Arg3325Ser) |
single nucleotide variant |
not provided [RCV001917114] |
Chr10:71815186 [GRCh38] Chr10:73574943 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7771C>T (p.Leu2591Phe) |
single nucleotide variant |
not provided [RCV001932994] |
Chr10:71803319 [GRCh38] Chr10:73563076 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3490C>T (p.Arg1164Trp) |
single nucleotide variant |
not provided [RCV001883205] |
Chr10:71725431 [GRCh38] Chr10:73485188 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8382G>T (p.Glu2794Asp) |
single nucleotide variant |
not provided [RCV001917196] |
Chr10:71807589 [GRCh38] Chr10:73567346 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002491879]|not provided [RCV001920918] |
Chr10:71793251 [GRCh38] Chr10:73553008 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7421C>T (p.Thr2474Ile) |
single nucleotide variant |
not provided [RCV001902241] |
Chr10:71800694 [GRCh38] Chr10:73560451 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5030G>C (p.Gly1677Ala) |
single nucleotide variant |
not provided [RCV001902268] |
Chr10:71777864 [GRCh38] Chr10:73537621 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002484605]|not provided [RCV001936051] |
Chr10:71791162 [GRCh38] Chr10:73550919 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3232G>C (p.Val1078Leu) |
single nucleotide variant |
not provided [RCV002031772] |
Chr10:71712676 [GRCh38] Chr10:73472433 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4256A>C (p.Asp1419Ala) |
single nucleotide variant |
not provided [RCV002047525] |
Chr10:71738544 [GRCh38] Chr10:73498301 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4792A>G (p.Ser1598Gly) |
single nucleotide variant |
not provided [RCV001932968] |
Chr10:71741868 [GRCh38] Chr10:73501625 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1112del (p.Ile371fs) |
deletion |
not provided [RCV001974610] |
Chr10:71617371 [GRCh38] Chr10:73377128 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1140+1G>C |
single nucleotide variant |
not provided [RCV002009727] |
Chr10:71643867 [GRCh38] Chr10:73403624 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.211G>A (p.Gly71Arg) |
single nucleotide variant |
not provided [RCV001989194] |
Chr10:71510147 [GRCh38] Chr10:73269904 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6307G>T (p.Glu2103Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475236]|not provided [RCV001953829] |
Chr10:71793235 [GRCh38] Chr10:73552992 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.971C>G (p.Thr324Ser) |
single nucleotide variant |
not provided [RCV001936689] |
Chr10:71617230 [GRCh38] Chr10:73376987 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8744G>A (p.Arg2915His) |
single nucleotide variant |
not provided [RCV001918611] |
Chr10:71809841 [GRCh38] Chr10:73569598 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3902T>A (p.Ile1301Asn) |
single nucleotide variant |
not provided [RCV001971268] |
Chr10:71732173 [GRCh38] Chr10:73491930 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6787A>G (p.Asn2263Asp) |
single nucleotide variant |
not provided [RCV001879557] |
Chr10:71797178 [GRCh38] Chr10:73556935 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2581A>G (p.Thr861Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002545812]|not provided [RCV001866798] |
Chr10:71702205 [GRCh38] Chr10:73461962 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2733+1G>A |
single nucleotide variant |
not provided [RCV002050297] |
Chr10:71702695 [GRCh38] Chr10:73462452 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6709A>G (p.Thr2237Ala) |
single nucleotide variant |
not provided [RCV001936761] |
Chr10:71793637 [GRCh38] Chr10:73553394 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6689C>A (p.Ala2230Asp) |
single nucleotide variant |
not provided [RCV001898682] |
Chr10:71793617 [GRCh38] Chr10:73553374 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.152_153del (p.Ser51fs) |
deletion |
not provided [RCV001917333] |
Chr10:71510087..71510088 [GRCh38] Chr10:73269844..73269845 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8722+2T>G |
single nucleotide variant |
not provided [RCV001991768] |
Chr10:71808009 [GRCh38] Chr10:73567766 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2918_2928del (p.Pro973fs) |
deletion |
not provided [RCV001951255] |
Chr10:71705093..71705103 [GRCh38] Chr10:73464850..73464860 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8609C>T (p.Ala2870Val) |
single nucleotide variant |
See cases [RCV002252734]|not provided [RCV001952636] |
Chr10:71807894 [GRCh38] Chr10:73567651 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7837C>T (p.Arg2613Cys) |
single nucleotide variant |
not provided [RCV001952653] |
Chr10:71803385 [GRCh38] Chr10:73563142 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8158C>A (p.Pro2720Thr) |
single nucleotide variant |
not provided [RCV002051280] |
Chr10:71806261 [GRCh38] Chr10:73566018 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4874T>C (p.Val1625Ala) |
single nucleotide variant |
not provided [RCV001903508] |
Chr10:71777708 [GRCh38] Chr10:73537465 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9943C>G (p.Leu3315Val) |
single nucleotide variant |
not provided [RCV002048943] |
Chr10:71815156 [GRCh38] Chr10:73574913 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.773T>C (p.Ile258Thr) |
single nucleotide variant |
not provided [RCV002050523] |
Chr10:71577933 [GRCh38] Chr10:73337690 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73269829)_(73405747_?)dup |
duplication |
not provided [RCV002031364] |
Chr10:73269829..73405747 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.9810C>G (p.His3270Gln) |
single nucleotide variant |
not provided [RCV001991961] |
Chr10:71815023 [GRCh38] Chr10:73574780 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6248C>T (p.Pro2083Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002553445]|not provided [RCV001897556] |
Chr10:71791330 [GRCh38] Chr10:73551087 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4550T>C (p.Ile1517Thr) |
single nucleotide variant |
not provided [RCV001897581] |
Chr10:71740883 [GRCh38] Chr10:73500640 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.490G>A (p.Gly164Arg) |
single nucleotide variant |
not provided [RCV002027896] |
Chr10:71566802 [GRCh38] Chr10:73326559 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3997G>A (p.Val1333Met) |
single nucleotide variant |
not provided [RCV001976854] |
Chr10:71732268 [GRCh38] Chr10:73492025 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9628A>G (p.Ile3210Val) |
single nucleotide variant |
not provided [RCV001933514] |
Chr10:71812885 [GRCh38] Chr10:73572642 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1143_1176del |
deletion |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002503392]|Usher syndrome type 1D [RCV003447325]|not provided [RCV001870388] |
Chr10:71645830..71645863 [GRCh38] Chr10:73405587..73405620 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.6061G>A (p.Val2021Met) |
single nucleotide variant |
not provided [RCV001935669] |
Chr10:71791143 [GRCh38] Chr10:73550900 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2689G>A (p.Ala897Thr) |
single nucleotide variant |
not provided [RCV001956869] |
Chr10:71702650 [GRCh38] Chr10:73462407 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2768dup (p.Leu924fs) |
duplication |
not provided [RCV001922934] |
Chr10:71704943..71704944 [GRCh38] Chr10:73464700..73464701 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8979+1G>A |
single nucleotide variant |
not provided [RCV001990892] |
Chr10:71810077 [GRCh38] Chr10:73569834 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7909G>C (p.Ala2637Pro) |
single nucleotide variant |
not provided [RCV001877339] |
Chr10:71805842 [GRCh38] Chr10:73565599 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9148G>T (p.Val3050Leu) |
single nucleotide variant |
not provided [RCV001937780] |
Chr10:71811385 [GRCh38] Chr10:73571142 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002491893]|not provided [RCV001938365] |
Chr10:71712740 [GRCh38] Chr10:73472497 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.11:g.71816054G>T |
single nucleotide variant |
not provided [RCV002034857] |
Chr10:71816054 [GRCh38] Chr10:73575811 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8213C>T (p.Pro2738Leu) |
single nucleotide variant |
not provided [RCV001885641] |
Chr10:71807311 [GRCh38] Chr10:73567068 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6628C>G (p.His2210Asp) |
single nucleotide variant |
not provided [RCV002049254] |
Chr10:71793556 [GRCh38] Chr10:73553313 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5621T>G (p.Leu1874Arg) |
single nucleotide variant |
not provided [RCV001901651] |
Chr10:71785009 [GRCh38] Chr10:73544766 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8628C>T (p.Gly2876=) |
single nucleotide variant |
not provided [RCV001900373] |
Chr10:71807913 [GRCh38] Chr10:73567670 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9473A>T (p.Glu3158Val) |
single nucleotide variant |
not provided [RCV001934945] |
Chr10:71812572 [GRCh38] Chr10:73572329 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3201G>A (p.Met1067Ile) |
single nucleotide variant |
not provided [RCV001921373] |
Chr10:71709192 [GRCh38] Chr10:73468949 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5068G>C (p.Gly1690Arg) |
single nucleotide variant |
not provided [RCV001977561] |
Chr10:71778189 [GRCh38] Chr10:73537946 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1141-1G>A |
single nucleotide variant |
not provided [RCV001998746] |
Chr10:71645830 [GRCh38] Chr10:73405587 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.5125del (p.Thr1708_Leu1709insTer) |
deletion |
Pituitary adenoma 5, multiple types [RCV003475235]|not provided [RCV001972656] |
Chr10:71778244 [GRCh38] Chr10:73538001 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.418C>T (p.Arg140Cys) |
single nucleotide variant |
not provided [RCV002048039] |
Chr10:71511201 [GRCh38] Chr10:73270958 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2023G>A (p.Ala675Thr) |
single nucleotide variant |
not provided [RCV001883250] |
Chr10:71687683 [GRCh38] Chr10:73447440 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5871_5872dup (p.Leu1958fs) |
duplication |
not provided [RCV001906329] |
Chr10:71788986..71788987 [GRCh38] Chr10:73548743..73548744 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.9389C>T (p.Pro3130Leu) |
single nucleotide variant |
not provided [RCV001906905] |
Chr10:71812488 [GRCh38] Chr10:73572245 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4730G>C (p.Arg1577Pro) |
single nucleotide variant |
not provided [RCV002020040] |
Chr10:71741806 [GRCh38] Chr10:73501563 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9772G>A (p.Asp3258Asn) |
single nucleotide variant |
not provided [RCV002046851] |
Chr10:71814985 [GRCh38] Chr10:73574742 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9721del (p.His3241fs) |
deletion |
not provided [RCV001938448]|not specified [RCV003226502] |
Chr10:71813330 [GRCh38] Chr10:73573087 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6646G>A (p.Ala2216Thr) |
single nucleotide variant |
not provided [RCV001982367] |
Chr10:71793574 [GRCh38] Chr10:73553331 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3983T>C (p.Leu1328Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003355577]|not provided [RCV001899869] |
Chr10:71732254 [GRCh38] Chr10:73492011 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73537417)_(73545515_?)dup |
duplication |
not provided [RCV001976812] |
Chr10:73537417..73545515 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6474dup (p.Ile2159fs) |
duplication |
not provided [RCV001994777] |
Chr10:71793400..71793401 [GRCh38] Chr10:73553157..73553158 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.5228C>T (p.Thr1743Ile) |
single nucleotide variant |
not provided [RCV001961608] |
Chr10:71779307 [GRCh38] Chr10:73539064 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73574689)_(73610978_?)del |
deletion |
not provided [RCV002011875] |
Chr10:73574689..73610978 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002490284]|not provided [RCV001930636] |
Chr10:71730482 [GRCh38] Chr10:73490239 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.311A>G (p.Glu104Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002554340]|not provided [RCV001918041] |
Chr10:71510976 [GRCh38] Chr10:73270733 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002478280]|not provided [RCV001898176] |
Chr10:71788971 [GRCh38] Chr10:73548728 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1571A>C (p.Glu524Ala) |
single nucleotide variant |
not provided [RCV001976909] |
Chr10:71677512 [GRCh38] Chr10:73437269 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4813A>G (p.Thr1605Ala) |
single nucleotide variant |
not provided [RCV002031066] |
Chr10:71741889 [GRCh38] Chr10:73501646 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8791G>T (p.Asp2931Tyr) |
single nucleotide variant |
not provided [RCV001919449] |
Chr10:71809888 [GRCh38] Chr10:73569645 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4588C>A (p.Pro1530Thr) |
single nucleotide variant |
not provided [RCV001994049] |
Chr10:71740921 [GRCh38] Chr10:73500678 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9935T>A (p.Leu3312Gln) |
single nucleotide variant |
not provided [RCV001925806] |
Chr10:71815148 [GRCh38] Chr10:73574905 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4903C>T (p.Gln1635Ter) |
single nucleotide variant |
not provided [RCV001931471] |
Chr10:71777737 [GRCh38] Chr10:73537494 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.6389C>T (p.Ala2130Val) |
single nucleotide variant |
not provided [RCV001956020] |
Chr10:71793317 [GRCh38] Chr10:73553074 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3716-16_3716-15del |
microsatellite |
not provided [RCV001932325] |
Chr10:71731969..71731970 [GRCh38] Chr10:73491726..73491727 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9511-3del |
deletion |
not provided [RCV001981365] |
Chr10:71812762 [GRCh38] Chr10:73572519 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9466_9500del (p.Leu3156fs) |
deletion |
not provided [RCV001864704] |
Chr10:71812563..71812597 [GRCh38] Chr10:73572320..73572354 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.6508T>C (p.Ser2170Pro) |
single nucleotide variant |
not provided [RCV002010863] |
Chr10:71793436 [GRCh38] Chr10:73553193 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5465G>A (p.Cys1822Tyr) |
single nucleotide variant |
not provided [RCV002012081] |
Chr10:71784383 [GRCh38] Chr10:73544140 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7721A>G (p.Tyr2574Cys) |
single nucleotide variant |
not provided [RCV001988957] |
Chr10:71803269 [GRCh38] Chr10:73563026 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5187+11G>A |
single nucleotide variant |
not provided [RCV001866518] |
Chr10:71778319 [GRCh38] Chr10:73538076 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.7872+6C>A |
single nucleotide variant |
not provided [RCV002029974] |
Chr10:71803426 [GRCh38] Chr10:73563183 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7246C>T (p.Pro2416Ser) |
single nucleotide variant |
not provided [RCV002027470] |
Chr10:71799513 [GRCh38] Chr10:73559270 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73206055)_(73206172_?)del |
deletion |
not provided [RCV002031316] |
Chr10:73206055..73206172 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NC_000010.10:g.(?_73337661)_(73337759_?)dup |
duplication |
not provided [RCV002031334] |
Chr10:73337661..73337759 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8776G>A (p.Gly2926Ser) |
single nucleotide variant |
not provided [RCV001924132] |
Chr10:71809873 [GRCh38] Chr10:73569630 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7224+6T>C |
single nucleotide variant |
not provided [RCV001972040] |
Chr10:71799286 [GRCh38] Chr10:73559043 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.747TCC[1] (p.Pro251del) |
microsatellite |
not provided [RCV001931872] |
Chr10:71570911..71570913 [GRCh38] Chr10:73330668..73330670 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.586G>A (p.Glu196Lys) |
single nucleotide variant |
not provided [RCV002028874] |
Chr10:71566898 [GRCh38] Chr10:73326655 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2717G>A (p.Gly906Glu) |
single nucleotide variant |
not provided [RCV002013716] |
Chr10:71702678 [GRCh38] Chr10:73462435 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.310G>C (p.Glu104Gln) |
single nucleotide variant |
not provided [RCV002028855] |
Chr10:71510975 [GRCh38] Chr10:73270732 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1290T>G (p.Asp430Glu) |
single nucleotide variant |
not provided [RCV002014892] |
Chr10:71645980 [GRCh38] Chr10:73405737 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5650G>A (p.Ala1884Thr) |
single nucleotide variant |
not provided [RCV002026319] |
Chr10:71785038 [GRCh38] Chr10:73544795 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5162C>T (p.Ser1721Phe) |
single nucleotide variant |
not provided [RCV001901270] |
Chr10:71778283 [GRCh38] Chr10:73538040 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8836A>G (p.Ile2946Val) |
single nucleotide variant |
not provided [RCV001866784] |
Chr10:71809933 [GRCh38] Chr10:73569690 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2113G>A (p.Gly705Ser) |
single nucleotide variant |
not provided [RCV001933210] |
Chr10:71690521 [GRCh38] Chr10:73450278 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6933del (p.Thr2313fs) |
deletion |
not provided [RCV001953831] |
Chr10:71798457 [GRCh38] Chr10:73558214 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.9649G>T (p.Val3217Leu) |
single nucleotide variant |
not provided [RCV002048886] |
Chr10:71813259 [GRCh38] Chr10:73573016 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7891A>C (p.Asn2631His) |
single nucleotide variant |
not provided [RCV001903297] |
Chr10:71805824 [GRCh38] Chr10:73565581 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.464A>G (p.Asn155Ser) |
single nucleotide variant |
not provided [RCV001881817] |
Chr10:71566776 [GRCh38] Chr10:73326533 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5432G>A (p.Arg1811Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002555659]|not provided [RCV001925456] |
Chr10:71784350 [GRCh38] Chr10:73544107 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.940G>A (p.Val314Met) |
single nucleotide variant |
not provided [RCV002047706] |
Chr10:71615611 [GRCh38] Chr10:73375368 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5583C>T (p.Ser1861=) |
single nucleotide variant |
not provided [RCV001904973] |
Chr10:71784971 [GRCh38] Chr10:73544728 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.6376del (p.Arg2126fs) |
deletion |
not provided [RCV001939458] |
Chr10:71793303 [GRCh38] Chr10:73553060 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.9489del (p.Leu3162_Trp3163insTer) |
deletion |
not provided [RCV001994461] |
Chr10:71812587 [GRCh38] Chr10:73572344 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.5901G>C (p.Glu1967Asp) |
single nucleotide variant |
not provided [RCV001979844] |
Chr10:71789020 [GRCh38] Chr10:73548777 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9695G>A (p.Arg3232Gln) |
single nucleotide variant |
not provided [RCV001955351] |
Chr10:71813305 [GRCh38] Chr10:73573062 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5897C>A (p.Ala1966Glu) |
single nucleotide variant |
not provided [RCV002046524] |
Chr10:71789016 [GRCh38] Chr10:73548773 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9198+5C>G |
single nucleotide variant |
not provided [RCV001952777] |
Chr10:71811440 [GRCh38] Chr10:73571197 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5398G>A (p.Val1800Met) |
single nucleotide variant |
not provided [RCV002029228] |
Chr10:71784316 [GRCh38] Chr10:73544073 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7647G>C (p.Glu2549Asp) |
single nucleotide variant |
not provided [RCV001993454] |
Chr10:71803062 [GRCh38] Chr10:73562819 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2591G>T (p.Gly864Val) |
single nucleotide variant |
not provided [RCV001955438] |
Chr10:71702552 [GRCh38] Chr10:73462309 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73562635)_(73563197_?)dup |
duplication |
not provided [RCV001923193] |
Chr10:73562635..73563197 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5578A>G (p.Ile1860Val) |
single nucleotide variant |
not provided [RCV001905681] |
Chr10:71784966 [GRCh38] Chr10:73544723 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5368G>A (p.Gly1790Arg) |
single nucleotide variant |
not provided [RCV002030448] |
Chr10:71779447 [GRCh38] Chr10:73539204 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1961C>A (p.Thr654Asn) |
single nucleotide variant |
not provided [RCV001979713] |
Chr10:71682547 [GRCh38] Chr10:73442304 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8561-1G>A |
single nucleotide variant |
not provided [RCV002013033] |
Chr10:71807845 [GRCh38] Chr10:73567602 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8086C>A (p.Leu2696Met) |
single nucleotide variant |
not provided [RCV002015901] |
Chr10:71806189 [GRCh38] Chr10:73565946 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7121_7145del (p.Ala2374fs) |
deletion |
not provided [RCV001923904] |
Chr10:71799176..71799200 [GRCh38] Chr10:73558933..73558957 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8394C>G (p.Ile2798Met) |
single nucleotide variant |
not provided [RCV001922372] |
Chr10:71807601 [GRCh38] Chr10:73567358 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1099C>T (p.Leu367Phe) |
single nucleotide variant |
not provided [RCV002048599] |
Chr10:71617358 [GRCh38] Chr10:73377115 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5795C>T (p.Pro1932Leu) |
single nucleotide variant |
not provided [RCV001899699] |
Chr10:71785713 [GRCh38] Chr10:73545470 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8963A>C (p.Asn2988Thr) |
single nucleotide variant |
not provided [RCV001980171] |
Chr10:71810060 [GRCh38] Chr10:73569817 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.10039A>C (p.Thr3347Pro) |
single nucleotide variant |
not provided [RCV002018513] |
Chr10:71815252 [GRCh38] Chr10:73575009 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9398T>C (p.Leu3133Pro) |
single nucleotide variant |
not provided [RCV002019192] |
Chr10:71812497 [GRCh38] Chr10:73572254 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3266T>C (p.Phe1089Ser) |
single nucleotide variant |
not provided [RCV001885551] |
Chr10:71712710 [GRCh38] Chr10:73472467 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73337651)_(73337769_?)del |
deletion |
not provided [RCV001959151] |
Chr10:73337651..73337769 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2981C>T (p.Thr994Ile) |
single nucleotide variant |
not provided [RCV002034283] |
Chr10:71706924 [GRCh38] Chr10:73466681 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.995C>A (p.Thr332Lys) |
single nucleotide variant |
not provided [RCV002017833] |
Chr10:71617254 [GRCh38] Chr10:73377011 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5278G>A (p.Gly1760Arg) |
single nucleotide variant |
not provided [RCV001980634] |
Chr10:71779357 [GRCh38] Chr10:73539114 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5477G>C (p.Arg1826Pro) |
single nucleotide variant |
not provided [RCV001926094] |
Chr10:71784395 [GRCh38] Chr10:73544152 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7769dup (p.Leu2591fs) |
duplication |
not provided [RCV001959781] |
Chr10:71803312..71803313 [GRCh38] Chr10:73563069..73563070 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1967C>T (p.Pro656Leu) |
single nucleotide variant |
not provided [RCV001998032] |
Chr10:71682553 [GRCh38] Chr10:73442310 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5432_5451dup (p.Asn1818fs) |
duplication |
not provided [RCV001939388] |
Chr10:71784348..71784349 [GRCh38] Chr10:73544105..73544106 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7274_7275del (p.Thr2425fs) |
deletion |
not provided [RCV001906967] |
Chr10:71799541..71799542 [GRCh38] Chr10:73559298..73559299 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8084A>G (p.Asp2695Gly) |
single nucleotide variant |
not provided [RCV001940525] |
Chr10:71806187 [GRCh38] Chr10:73565944 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5501C>T (p.Thr1834Ile) |
single nucleotide variant |
not provided [RCV001961474] |
Chr10:71784419 [GRCh38] Chr10:73544176 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73403598)_(73406394_?)del |
deletion |
not provided [RCV002018527] |
Chr10:73403598..73406394 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7849G>T (p.Gly2617Cys) |
single nucleotide variant |
not provided [RCV001938976] |
Chr10:71803397 [GRCh38] Chr10:73563154 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5431C>T (p.Arg1811Trp) |
single nucleotide variant |
not provided [RCV001884409] |
Chr10:71784349 [GRCh38] Chr10:73544106 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4942_4943del (p.Asp1648fs) |
deletion |
not provided [RCV001906170] |
Chr10:71777775..71777776 [GRCh38] Chr10:73537532..73537533 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8193G>C (p.Gln2731His) |
single nucleotide variant |
Inborn genetic diseases [RCV003355628]|not provided [RCV001906526] |
Chr10:71807291 [GRCh38] Chr10:73567048 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6613C>T (p.Pro2205Ser) |
single nucleotide variant |
not provided [RCV001916606] |
Chr10:71793541 [GRCh38] Chr10:73553298 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.585C>T (p.Tyr195=) |
single nucleotide variant |
not provided [RCV001916656] |
Chr10:71566897 [GRCh38] Chr10:73326654 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8027C>T (p.Ala2676Val) |
single nucleotide variant |
not provided [RCV002010533] |
Chr10:71805960 [GRCh38] Chr10:73565717 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4274C>T (p.Ala1425Val) |
single nucleotide variant |
not provided [RCV001878977] |
Chr10:71738562 [GRCh38] Chr10:73498319 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9359C>T (p.Thr3120Ile) |
single nucleotide variant |
not provided [RCV001870291] |
Chr10:71811994 [GRCh38] Chr10:73571751 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4817T>C (p.Val1606Ala) |
single nucleotide variant |
not provided [RCV001882230] |
Chr10:71741893 [GRCh38] Chr10:73501650 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8303T>A (p.Ile2768Asn) |
single nucleotide variant |
not provided [RCV001906862] |
Chr10:71807401 [GRCh38] Chr10:73567158 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8903T>C (p.Val2968Ala) |
single nucleotide variant |
not provided [RCV001906863] |
Chr10:71810000 [GRCh38] Chr10:73569757 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4271C>T (p.Ser1424Leu) |
single nucleotide variant |
not provided [RCV001981917] |
Chr10:71738559 [GRCh38] Chr10:73498316 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3746T>C (p.Leu1249Pro) |
single nucleotide variant |
not provided [RCV001881263] |
Chr10:71732017 [GRCh38] Chr10:73491774 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1479G>T (p.Gly493=) |
single nucleotide variant |
not provided [RCV002049649] |
Chr10:71675141 [GRCh38] Chr10:73434898 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.2875G>T (p.Ala959Ser) |
single nucleotide variant |
not provided [RCV002016326] |
Chr10:71705052 [GRCh38] Chr10:73464809 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6155del (p.Thr2052fs) |
deletion |
not provided [RCV001875125] |
Chr10:71791237 [GRCh38] Chr10:73550994 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.738C>G (p.Tyr246Ter) |
single nucleotide variant |
not provided [RCV001897144] |
Chr10:71570903 [GRCh38] Chr10:73330660 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.556del (p.Ile186fs) |
deletion |
not provided [RCV001899088] |
Chr10:71566868 [GRCh38] Chr10:73326625 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8188C>G (p.Pro2730Ala) |
single nucleotide variant |
not provided [RCV001978920] |
Chr10:71807286 [GRCh38] Chr10:73567043 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4783G>A (p.Glu1595Lys) |
single nucleotide variant |
CDH23-related condition [RCV003416575]|not provided [RCV001915737] |
Chr10:71741859 [GRCh38] Chr10:73501616 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5506C>G (p.Leu1836Val) |
single nucleotide variant |
not provided [RCV001990844] |
Chr10:71784894 [GRCh38] Chr10:73544651 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9393del (p.Trp3132fs) |
deletion |
not provided [RCV001953759] |
Chr10:71812492 [GRCh38] Chr10:73572249 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3754G>A (p.Ala1252Thr) |
single nucleotide variant |
not provided [RCV001883749] |
Chr10:71732025 [GRCh38] Chr10:73491782 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002503622]|not provided [RCV001921368] |
Chr10:71805875 [GRCh38] Chr10:73565632 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8044G>C (p.Glu2682Gln) |
single nucleotide variant |
not provided [RCV001995803] |
Chr10:71805977 [GRCh38] Chr10:73565734 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1512C>G (p.Asp504Glu) |
single nucleotide variant |
not provided [RCV001866427] |
Chr10:71675174 [GRCh38] Chr10:73434931 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.761C>T (p.Thr254Met) |
single nucleotide variant |
not provided [RCV002031927] |
Chr10:71577921 [GRCh38] Chr10:73337678 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7011C>G (p.Asp2337Glu) |
single nucleotide variant |
not provided [RCV002013440] |
Chr10:71798535 [GRCh38] Chr10:73558292 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.950C>T (p.Thr317Met) |
single nucleotide variant |
not provided [RCV001930655] |
Chr10:71617209 [GRCh38] Chr10:73376966 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9884C>G (p.Thr3295Ser) |
single nucleotide variant |
not provided [RCV001917945] |
Chr10:71815097 [GRCh38] Chr10:73574854 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1429A>G (p.Thr477Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002561345]|not provided [RCV001954965] |
Chr10:71646597 [GRCh38] Chr10:73406354 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3038G>A (p.Arg1013Gln) |
single nucleotide variant |
not provided [RCV001996159]|not specified [RCV003479388] |
Chr10:71706981 [GRCh38] Chr10:73466738 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7224+19G>A |
single nucleotide variant |
not provided [RCV001932719] |
Chr10:71799299 [GRCh38] Chr10:73559056 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1346C>T (p.Thr449Ile) |
single nucleotide variant |
not provided [RCV001899499] |
Chr10:71646514 [GRCh38] Chr10:73406271 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5287G>A (p.Val1763Met) |
single nucleotide variant |
not provided [RCV002017107] |
Chr10:71779366 [GRCh38] Chr10:73539123 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5188-2A>G |
single nucleotide variant |
not provided [RCV002017139] |
Chr10:71779265 [GRCh38] Chr10:73539022 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.5116C>A (p.Arg1706Ser) |
single nucleotide variant |
not provided [RCV001881567] |
Chr10:71778237 [GRCh38] Chr10:73537994 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1735C>T (p.Gln579Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475258]|not provided [RCV001951481] |
Chr10:71677676 [GRCh38] Chr10:73437433 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.9699G>A (p.Met3233Ile) |
single nucleotide variant |
not provided [RCV001934598] |
Chr10:71813309 [GRCh38] Chr10:73573066 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3375del (p.Ala1126fs) |
deletion |
not provided [RCV001890228] |
Chr10:71724048 [GRCh38] Chr10:73483805 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8192A>C (p.Gln2731Pro) |
single nucleotide variant |
not provided [RCV001952436] |
Chr10:71807290 [GRCh38] Chr10:73567047 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7362+1G>A |
single nucleotide variant |
not provided [RCV002033676] |
Chr10:71799630 [GRCh38] Chr10:73559387 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3106+6G>T |
single nucleotide variant |
not provided [RCV001933748] |
Chr10:71707055 [GRCh38] Chr10:73466812 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8825A>G (p.Asp2942Gly) |
single nucleotide variant |
not provided [RCV002014777] |
Chr10:71809922 [GRCh38] Chr10:73569679 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73375251)_(73375383_?)del |
deletion |
not provided [RCV001972465] |
Chr10:73375251..73375383 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7633A>G (p.Thr2545Ala) |
single nucleotide variant |
not provided [RCV001901298] |
Chr10:71803048 [GRCh38] Chr10:73562805 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4547C>A (p.Thr1516Asn) |
single nucleotide variant |
not provided [RCV001902201] |
Chr10:71740880 [GRCh38] Chr10:73500637 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8260G>C (p.Val2754Leu) |
single nucleotide variant |
not provided [RCV001995243] |
Chr10:71807358 [GRCh38] Chr10:73567115 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6945C>G (p.Leu2315=) |
single nucleotide variant |
not provided [RCV002144799] |
Chr10:71798469 [GRCh38] Chr10:73558226 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4104+11G>C |
single nucleotide variant |
not provided [RCV002186803] |
Chr10:71732386 [GRCh38] Chr10:73492143 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2889G>T (p.Leu963=) |
single nucleotide variant |
not provided [RCV002075360] |
Chr10:71705066 [GRCh38] Chr10:73464823 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7230T>A (p.Ala2410=) |
single nucleotide variant |
not provided [RCV002073886] |
Chr10:71799497 [GRCh38] Chr10:73559254 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4737C>T (p.Asp1579=) |
single nucleotide variant |
not provided [RCV002092010] |
Chr10:71741813 [GRCh38] Chr10:73501570 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8723-20C>T |
single nucleotide variant |
not provided [RCV002105297] |
Chr10:71809800 [GRCh38] Chr10:73569557 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2535C>G (p.Pro845=) |
single nucleotide variant |
not provided [RCV002166149] |
Chr10:71702159 [GRCh38] Chr10:73461916 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4779C>T (p.Asp1593=) |
single nucleotide variant |
not provided [RCV002190278] |
Chr10:71741855 [GRCh38] Chr10:73501612 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4209+15G>C |
single nucleotide variant |
not provided [RCV002111435] |
Chr10:71734673 [GRCh38] Chr10:73494430 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7690T>C (p.Leu2564=) |
single nucleotide variant |
not provided [RCV002130133] |
Chr10:71803238 [GRCh38] Chr10:73562995 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9723C>T (p.His3241=) |
single nucleotide variant |
not provided [RCV002130097] |
Chr10:71813333 [GRCh38] Chr10:73573090 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7317C>T (p.Tyr2439=) |
single nucleotide variant |
not provided [RCV002127179] |
Chr10:71799584 [GRCh38] Chr10:73559341 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5508G>T (p.Leu1836=) |
single nucleotide variant |
not provided [RCV002145134] |
Chr10:71784896 [GRCh38] Chr10:73544653 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9969C>T (p.Phe3323=) |
single nucleotide variant |
not provided [RCV002073629] |
Chr10:71815182 [GRCh38] Chr10:73574939 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3585T>C (p.Ile1195=) |
single nucleotide variant |
not provided [RCV002214666] |
Chr10:71730474 [GRCh38] Chr10:73490231 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1998C>T (p.Asp666=) |
single nucleotide variant |
not provided [RCV002073570] |
Chr10:71687658 [GRCh38] Chr10:73447415 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9319+15T>C |
single nucleotide variant |
not provided [RCV002128282] |
Chr10:71811768 [GRCh38] Chr10:73571525 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4104+15G>A |
single nucleotide variant |
not provided [RCV002132700] |
Chr10:71732390 [GRCh38] Chr10:73492147 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1987-8C>T |
single nucleotide variant |
not provided [RCV002205831] |
Chr10:71687639 [GRCh38] Chr10:73447396 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3681A>C (p.Ser1227=) |
single nucleotide variant |
not provided [RCV002098701] |
Chr10:71730570 [GRCh38] Chr10:73490327 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3579+13G>A |
single nucleotide variant |
not provided [RCV002220252] |
Chr10:71725533 [GRCh38] Chr10:73485290 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3642C>T (p.Ser1214=) |
single nucleotide variant |
not provided [RCV002220715] |
Chr10:71730531 [GRCh38] Chr10:73490288 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7482+11C>T |
single nucleotide variant |
not provided [RCV002125533] |
Chr10:71800766 [GRCh38] Chr10:73560523 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1362T>C (p.Asn454=) |
single nucleotide variant |
not provided [RCV002124416] |
Chr10:71646530 [GRCh38] Chr10:73406287 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2340C>T (p.Asp780=) |
single nucleotide variant |
not provided [RCV002129073] |
Chr10:71695468 [GRCh38] Chr10:73455225 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3144C>T (p.Arg1048=) |
single nucleotide variant |
not provided [RCV002129100] |
Chr10:71709135 [GRCh38] Chr10:73468892 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2103C>G (p.Ser701=) |
single nucleotide variant |
not provided [RCV002166447] |
Chr10:71690511 [GRCh38] Chr10:73450268 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3745C>T (p.Leu1249=) |
single nucleotide variant |
not provided [RCV002109742] |
Chr10:71732016 [GRCh38] Chr10:73491773 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.429+10A>G |
single nucleotide variant |
not provided [RCV002148840] |
Chr10:71511222 [GRCh38] Chr10:73270979 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5139C>T (p.Ala1713=) |
single nucleotide variant |
not provided [RCV002167160] |
Chr10:71778260 [GRCh38] Chr10:73538017 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7140G>C (p.Pro2380=) |
single nucleotide variant |
not provided [RCV002084756] |
Chr10:71799196 [GRCh38] Chr10:73558953 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8208A>C (p.Thr2736=) |
single nucleotide variant |
not provided [RCV002128891] |
Chr10:71807306 [GRCh38] Chr10:73567063 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5151C>T (p.Cys1717=) |
single nucleotide variant |
not provided [RCV002187201] |
Chr10:71778272 [GRCh38] Chr10:73538029 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.337-7T>C |
single nucleotide variant |
not provided [RCV002205313] |
Chr10:71511113 [GRCh38] Chr10:73270870 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1593G>A (p.Leu531=) |
single nucleotide variant |
not provided [RCV002089829] |
Chr10:71677534 [GRCh38] Chr10:73437291 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4806G>T (p.Leu1602=) |
single nucleotide variant |
not provided [RCV002106592] |
Chr10:71741882 [GRCh38] Chr10:73501639 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.741G>A (p.Glu247=) |
single nucleotide variant |
not provided [RCV002207700] |
Chr10:71570906 [GRCh38] Chr10:73330663 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4105-14C>A |
single nucleotide variant |
not provided [RCV002190343] |
Chr10:71734226 [GRCh38] Chr10:73493983 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8722+20G>A |
single nucleotide variant |
not provided [RCV002111634] |
Chr10:71808027 [GRCh38] Chr10:73567784 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.625-8T>C |
single nucleotide variant |
not provided [RCV002207786] |
Chr10:71570782 [GRCh38] Chr10:73330539 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2953+9G>T |
single nucleotide variant |
not provided [RCV002086646] |
Chr10:71705139 [GRCh38] Chr10:73464896 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9645G>A (p.Leu3215=) |
single nucleotide variant |
not provided [RCV002205127] |
Chr10:71813255 [GRCh38] Chr10:73573012 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5712+12A>T |
single nucleotide variant |
not provided [RCV002107633] |
Chr10:71785112 [GRCh38] Chr10:73544869 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4047C>T (p.Arg1349=) |
single nucleotide variant |
not provided [RCV002146442] |
Chr10:71732318 [GRCh38] Chr10:73492075 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1135-15G>A |
single nucleotide variant |
not provided [RCV002104733] |
Chr10:71643846 [GRCh38] Chr10:73403603 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4764G>T (p.Arg1588=) |
single nucleotide variant |
not provided [RCV002206691] |
Chr10:71741840 [GRCh38] Chr10:73501597 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4062C>A (p.Thr1354=) |
single nucleotide variant |
not provided [RCV002155182] |
Chr10:71732333 [GRCh38] Chr10:73492090 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3146A>G (p.Asp1049Gly) |
single nucleotide variant |
not provided [RCV002223394] |
Chr10:71709137 [GRCh38] Chr10:73468894 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8979+9T>C |
single nucleotide variant |
not provided [RCV002112615] |
Chr10:71810085 [GRCh38] Chr10:73569842 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.624+10C>T |
single nucleotide variant |
not provided [RCV002188462] |
Chr10:71566946 [GRCh38] Chr10:73326703 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8637C>T (p.Ser2879=) |
single nucleotide variant |
not provided [RCV002089628] |
Chr10:71807922 [GRCh38] Chr10:73567679 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9279-4C>G |
single nucleotide variant |
not provided [RCV002187235] |
Chr10:71811709 [GRCh38] Chr10:73571466 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.522C>T (p.Pro174=) |
single nucleotide variant |
not provided [RCV002087921] |
Chr10:71566834 [GRCh38] Chr10:73326591 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.267C>T (p.Leu89=) |
single nucleotide variant |
not provided [RCV002167474] |
Chr10:71510203 [GRCh38] Chr10:73269960 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8679C>T (p.Ala2893=) |
single nucleotide variant |
not provided [RCV002146220] |
Chr10:71807964 [GRCh38] Chr10:73567721 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5487C>G (p.Pro1829=) |
single nucleotide variant |
not provided [RCV002169281] |
Chr10:71784405 [GRCh38] Chr10:73544162 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3716-5T>C |
single nucleotide variant |
not provided [RCV002184395] |
Chr10:71731982 [GRCh38] Chr10:73491739 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.-137G>A |
single nucleotide variant |
not provided [RCV002223716] |
Chr10:71397187 [GRCh38] Chr10:73156944 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1135-16C>T |
single nucleotide variant |
not provided [RCV002206575] |
Chr10:71643845 [GRCh38] Chr10:73403602 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9636C>A (p.Gly3212=) |
single nucleotide variant |
not provided [RCV002192981] |
Chr10:71813246 [GRCh38] Chr10:73573003 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4762C>A (p.Arg1588=) |
single nucleotide variant |
not provided [RCV002105184] |
Chr10:71741838 [GRCh38] Chr10:73501595 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.624+11_624+12delinsTG |
indel |
not provided [RCV002190658] |
Chr10:71566947..71566948 [GRCh38] Chr10:73326704..73326705 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5820+7C>G |
single nucleotide variant |
not provided [RCV002205993] |
Chr10:71785745 [GRCh38] Chr10:73545502 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3390T>C (p.Asp1130=) |
single nucleotide variant |
not provided [RCV002095727] |
Chr10:71724065 [GRCh38] Chr10:73483822 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2481C>T (p.Asn827=) |
single nucleotide variant |
not provided [RCV002075706] |
Chr10:71702105 [GRCh38] Chr10:73461862 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.744T>C (p.His248=) |
single nucleotide variant |
not provided [RCV002075707] |
Chr10:71570909 [GRCh38] Chr10:73330666 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6177C>T (p.Ile2059=) |
single nucleotide variant |
not provided [RCV002085878] |
Chr10:71791259 [GRCh38] Chr10:73551016 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5369-20C>T |
single nucleotide variant |
not provided [RCV002110583] |
Chr10:71784267 [GRCh38] Chr10:73544024 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5820+17C>G |
single nucleotide variant |
not provided [RCV002148944] |
Chr10:71785755 [GRCh38] Chr10:73545512 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1654T>C (p.Leu552=) |
single nucleotide variant |
not provided [RCV002190613] |
Chr10:71677595 [GRCh38] Chr10:73437352 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475309]|Usher syndrome type 1D [RCV002248985] |
Chr10:71784972 [GRCh38] Chr10:73544729 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8766C>T (p.Ala2922=) |
single nucleotide variant |
not provided [RCV002130449] |
Chr10:71809863 [GRCh38] Chr10:73569620 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4360-17CT[2] |
microsatellite |
not provided [RCV002208866] |
Chr10:71739627..71739628 [GRCh38] Chr10:73499384..73499385 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3147T>C (p.Asp1049=) |
single nucleotide variant |
not provided [RCV002210896] |
Chr10:71709138 [GRCh38] Chr10:73468895 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8178+7T>C |
single nucleotide variant |
not provided [RCV002145543] |
Chr10:71806288 [GRCh38] Chr10:73566045 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2037C>T (p.Ser679=) |
single nucleotide variant |
not provided [RCV002127029] |
Chr10:71687697 [GRCh38] Chr10:73447454 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7080G>T (p.Val2360=) |
single nucleotide variant |
not provided [RCV002110855] |
Chr10:71799136 [GRCh38] Chr10:73558893 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4245C>T (p.Ser1415=) |
single nucleotide variant |
not provided [RCV002191263] |
Chr10:71738533 [GRCh38] Chr10:73498290 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.612G>C (p.Thr204=) |
single nucleotide variant |
not provided [RCV002189350] |
Chr10:71566924 [GRCh38] Chr10:73326681 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7362+16G>A |
single nucleotide variant |
not provided [RCV002105551] |
Chr10:71799645 [GRCh38] Chr10:73559402 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2176+12del |
deletion |
not provided [RCV002104413] |
Chr10:71690590 [GRCh38] Chr10:73450347 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5187+12G>A |
single nucleotide variant |
not provided [RCV002085180] |
Chr10:71778320 [GRCh38] Chr10:73538077 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4392G>C (p.Ala1464=) |
single nucleotide variant |
not provided [RCV002084819] |
Chr10:71739676 [GRCh38] Chr10:73499433 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2853C>T (p.Thr951=) |
single nucleotide variant |
not provided [RCV002188336] |
Chr10:71705030 [GRCh38] Chr10:73464787 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1641C>T (p.Val547=) |
single nucleotide variant |
not provided [RCV002186945] |
Chr10:71677582 [GRCh38] Chr10:73437339 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2373C>G (p.Thr791=) |
single nucleotide variant |
not provided [RCV002165807] |
Chr10:71695501 [GRCh38] Chr10:73455258 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4360-12T>A |
single nucleotide variant |
not provided [RCV002189539] |
Chr10:71739632 [GRCh38] Chr10:73499389 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4618-10C>T |
single nucleotide variant |
not provided [RCV002168539] |
Chr10:71741684 [GRCh38] Chr10:73501441 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1858+9G>A |
single nucleotide variant |
not provided [RCV002191076] |
Chr10:71679501 [GRCh38] Chr10:73439258 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7800G>A (p.Glu2600=) |
single nucleotide variant |
not provided [RCV002206323] |
Chr10:71803348 [GRCh38] Chr10:73563105 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3966C>T (p.Ile1322=) |
single nucleotide variant |
not provided [RCV002139048] |
Chr10:71732237 [GRCh38] Chr10:73491994 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8035C>T (p.Leu2679=) |
single nucleotide variant |
not provided [RCV002168203] |
Chr10:71805968 [GRCh38] Chr10:73565725 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.849C>T (p.Ile283=) |
single nucleotide variant |
not provided [RCV002109192] |
Chr10:71615520 [GRCh38] Chr10:73375277 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2598C>G (p.Pro866=) |
single nucleotide variant |
not provided [RCV002110856] |
Chr10:71702559 [GRCh38] Chr10:73462316 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7971C>A (p.Gly2657=) |
single nucleotide variant |
not provided [RCV002191270] |
Chr10:71805904 [GRCh38] Chr10:73565661 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7482+8del |
deletion |
not provided [RCV002191423] |
Chr10:71800760 [GRCh38] Chr10:73560517 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3852G>T (p.Ser1284=) |
single nucleotide variant |
not provided [RCV002152340] |
Chr10:71732123 [GRCh38] Chr10:73491880 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3543C>T (p.Tyr1181=) |
single nucleotide variant |
not provided [RCV002156826] |
Chr10:71725484 [GRCh38] Chr10:73485241 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6210C>T (p.Ser2070=) |
single nucleotide variant |
not provided [RCV002072754] |
Chr10:71791292 [GRCh38] Chr10:73551049 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9069C>T (p.Asp3023=) |
single nucleotide variant |
not provided [RCV002189792] |
Chr10:71810561 [GRCh38] Chr10:73570318 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7873-11G>A |
single nucleotide variant |
not provided [RCV002168683] |
Chr10:71805795 [GRCh38] Chr10:73565552 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3849G>T (p.Val1283=) |
single nucleotide variant |
not provided [RCV002167422] |
Chr10:71732120 [GRCh38] Chr10:73491877 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2176+12dup |
duplication |
not provided [RCV002088602] |
Chr10:71690589..71690590 [GRCh38] Chr10:73450346..73450347 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.67+12_67+20del |
deletion |
not provided [RCV002145155] |
Chr10:71439908..71439916 [GRCh38] Chr10:73199665..73199673 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7140G>A (p.Pro2380=) |
single nucleotide variant |
not provided [RCV002108476] |
Chr10:71799196 [GRCh38] Chr10:73558953 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3370-12A>G |
single nucleotide variant |
not provided [RCV002094330] |
Chr10:71724033 [GRCh38] Chr10:73483790 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9840T>C (p.Asp3280=) |
single nucleotide variant |
not provided [RCV002206460] |
Chr10:71815053 [GRCh38] Chr10:73574810 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6732C>T (p.Ser2244=) |
single nucleotide variant |
not provided [RCV002109520] |
Chr10:71797123 [GRCh38] Chr10:73556880 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4207-4A>G |
single nucleotide variant |
not provided [RCV002072567] |
Chr10:71734652 [GRCh38] Chr10:73494409 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4105-13C>T |
single nucleotide variant |
not provided [RCV002174411] |
Chr10:71734227 [GRCh38] Chr10:73493984 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9198+16G>A |
single nucleotide variant |
not provided [RCV002147588] |
Chr10:71811451 [GRCh38] Chr10:73571208 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1392G>T (p.Leu464=) |
single nucleotide variant |
not provided [RCV002091172] |
Chr10:71646560 [GRCh38] Chr10:73406317 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4488+8C>G |
single nucleotide variant |
not provided [RCV002189004] |
Chr10:71739780 [GRCh38] Chr10:73499537 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3795C>T (p.Ile1265=) |
single nucleotide variant |
not provided [RCV002100151] |
Chr10:71732066 [GRCh38] Chr10:73491823 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9477C>A (p.Ile3159=) |
single nucleotide variant |
not provided [RCV002205396] |
Chr10:71812576 [GRCh38] Chr10:73572333 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5924-7G>T |
single nucleotide variant |
not provided [RCV002148056] |
Chr10:71790281 [GRCh38] Chr10:73550038 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3370-19G>A |
single nucleotide variant |
not provided [RCV002080275] |
Chr10:71724026 [GRCh38] Chr10:73483783 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8979+11G>C |
single nucleotide variant |
not provided [RCV002089822] |
Chr10:71810087 [GRCh38] Chr10:73569844 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3107-13C>A |
single nucleotide variant |
not provided [RCV002147755] |
Chr10:71709085 [GRCh38] Chr10:73468842 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3715+9G>A |
single nucleotide variant |
not provided [RCV002193964] |
Chr10:71730613 [GRCh38] Chr10:73490370 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.564A>G (p.Thr188=) |
single nucleotide variant |
not provided [RCV002087052] |
Chr10:71566876 [GRCh38] Chr10:73326633 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1987-11G>A |
single nucleotide variant |
not provided [RCV002165058] |
Chr10:71687636 [GRCh38] Chr10:73447393 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5028A>C (p.Ala1676=) |
single nucleotide variant |
not provided [RCV002185500] |
Chr10:71777862 [GRCh38] Chr10:73537619 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7122C>G (p.Ala2374=) |
single nucleotide variant |
not provided [RCV002144921] |
Chr10:71799178 [GRCh38] Chr10:73558935 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4848C>T (p.Ala1616=) |
single nucleotide variant |
not provided [RCV002071469] |
Chr10:71777682 [GRCh38] Chr10:73537439 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5821-10C>T |
single nucleotide variant |
not provided [RCV002167694] |
Chr10:71788930 [GRCh38] Chr10:73548687 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1887T>C (p.Tyr629=) |
single nucleotide variant |
not provided [RCV002088658] |
Chr10:71682473 [GRCh38] Chr10:73442230 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6399C>T (p.Asp2133=) |
single nucleotide variant |
not provided [RCV002188993] |
Chr10:71793327 [GRCh38] Chr10:73553084 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.882C>G (p.Thr294=) |
single nucleotide variant |
not provided [RCV002075580] |
Chr10:71615553 [GRCh38] Chr10:73375310 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8980-11T>C |
single nucleotide variant |
not provided [RCV002109914] |
Chr10:71810461 [GRCh38] Chr10:73570218 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7293A>C (p.Ser2431=) |
single nucleotide variant |
not provided [RCV002126552] |
Chr10:71799560 [GRCh38] Chr10:73559317 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8928C>T (p.Ile2976=) |
single nucleotide variant |
not provided [RCV002148411] |
Chr10:71810025 [GRCh38] Chr10:73569782 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5370G>A (p.Gly1790=) |
single nucleotide variant |
not provided [RCV002090026] |
Chr10:71784288 [GRCh38] Chr10:73544045 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2176+12C>G |
single nucleotide variant |
not provided [RCV002107264] |
Chr10:71690596 [GRCh38] Chr10:73450353 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4713C>T (p.Asn1571=) |
single nucleotide variant |
not provided [RCV002170046] |
Chr10:71741789 [GRCh38] Chr10:73501546 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9232C>T (p.Leu3078=) |
single nucleotide variant |
not provided [RCV002112244] |
Chr10:71811544 [GRCh38] Chr10:73571301 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9390T>C (p.Pro3130=) |
single nucleotide variant |
not provided [RCV002130389] |
Chr10:71812489 [GRCh38] Chr10:73572246 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8166C>T (p.Phe2722=) |
single nucleotide variant |
not provided [RCV002148129] |
Chr10:71806269 [GRCh38] Chr10:73566026 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1138T>C (p.Leu380=) |
single nucleotide variant |
not provided [RCV002148175] |
Chr10:71643864 [GRCh38] Chr10:73403621 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3999G>T (p.Val1333=) |
single nucleotide variant |
not provided [RCV002210084] |
Chr10:71732270 [GRCh38] Chr10:73492027 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9C>T (p.Arg3=) |
single nucleotide variant |
not provided [RCV002186046] |
Chr10:71439840 [GRCh38] Chr10:73199597 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.67+17C>T |
single nucleotide variant |
not provided [RCV002187865] |
Chr10:71439915 [GRCh38] Chr10:73199672 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1905G>A (p.Gly635=) |
single nucleotide variant |
not provided [RCV002197403] |
Chr10:71682491 [GRCh38] Chr10:73442248 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2060-13T>C |
single nucleotide variant |
not provided [RCV002187974] |
Chr10:71690455 [GRCh38] Chr10:73450212 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3579+15G>A |
single nucleotide variant |
not provided [RCV002130492] |
Chr10:71725535 [GRCh38] Chr10:73485292 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5067+11G>A |
single nucleotide variant |
not provided [RCV002207584] |
Chr10:71777912 [GRCh38] Chr10:73537669 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5589C>T (p.Asn1863=) |
single nucleotide variant |
not provided [RCV002147308] |
Chr10:71784977 [GRCh38] Chr10:73544734 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.945+11G>T |
single nucleotide variant |
not provided [RCV002170940] |
Chr10:71615627 [GRCh38] Chr10:73375384 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.306C>A (p.Thr102=) |
single nucleotide variant |
not provided [RCV002151991] |
Chr10:71510971 [GRCh38] Chr10:73270728 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9834G>A (p.Gly3278=) |
single nucleotide variant |
not provided [RCV002114576] |
Chr10:71815047 [GRCh38] Chr10:73574804 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3471G>C (p.Gly1157=) |
single nucleotide variant |
not provided [RCV002140148] |
Chr10:71725412 [GRCh38] Chr10:73485169 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4360-17C>T |
single nucleotide variant |
not provided [RCV002089323] |
Chr10:71739627 [GRCh38] Chr10:73499384 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8308+12_8308+15del |
microsatellite |
not provided [RCV002211843] |
Chr10:71807414..71807417 [GRCh38] Chr10:73567171..73567174 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9739-20G>C |
single nucleotide variant |
not provided [RCV002080749] |
Chr10:71814932 [GRCh38] Chr10:73574689 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.675C>T (p.Ile225=) |
single nucleotide variant |
not provided [RCV002212674] |
Chr10:71570840 [GRCh38] Chr10:73330597 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9717C>T (p.Ser3239=) |
single nucleotide variant |
not provided [RCV002194356] |
Chr10:71813327 [GRCh38] Chr10:73573084 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8454C>T (p.Ser2818=) |
single nucleotide variant |
not provided [RCV002205054] |
Chr10:71807661 [GRCh38] Chr10:73567418 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3198C>T (p.Tyr1066=) |
single nucleotide variant |
not provided [RCV002116435] |
Chr10:71709189 [GRCh38] Chr10:73468946 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5163C>G (p.Ser1721=) |
single nucleotide variant |
not provided [RCV002153609] |
Chr10:71778284 [GRCh38] Chr10:73538041 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9813G>A (p.Lys3271=) |
single nucleotide variant |
not provided [RCV002076578] |
Chr10:71815026 [GRCh38] Chr10:73574783 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4104+7G>C |
single nucleotide variant |
not provided [RCV002156275] |
Chr10:71732382 [GRCh38] Chr10:73492139 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5388T>C (p.Pro1796=) |
single nucleotide variant |
not provided [RCV002095142] |
Chr10:71784306 [GRCh38] Chr10:73544063 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6114G>A (p.Glu2038=) |
single nucleotide variant |
not provided [RCV002153705] |
Chr10:71791196 [GRCh38] Chr10:73550953 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3060G>C (p.Thr1020=) |
single nucleotide variant |
not provided [RCV002078012] |
Chr10:71707003 [GRCh38] Chr10:73466760 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8547T>C (p.Ala2849=) |
single nucleotide variant |
not provided [RCV002106637] |
Chr10:71807754 [GRCh38] Chr10:73567511 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3107-13C>T |
single nucleotide variant |
not provided [RCV002088016] |
Chr10:71709085 [GRCh38] Chr10:73468842 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6519G>A (p.Glu2173=) |
single nucleotide variant |
not provided [RCV002113526] |
Chr10:71793447 [GRCh38] Chr10:73553204 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2176+11_2176+12del |
deletion |
not provided [RCV002078566] |
Chr10:71690590..71690591 [GRCh38] Chr10:73450347..73450348 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7483-11C>T |
single nucleotide variant |
not provided [RCV002133104] |
Chr10:71802887 [GRCh38] Chr10:73562644 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2571C>T (p.Val857=) |
single nucleotide variant |
not provided [RCV002152549] |
Chr10:71702195 [GRCh38] Chr10:73461952 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6573T>A (p.Thr2191=) |
single nucleotide variant |
not provided [RCV002080300] |
Chr10:71793501 [GRCh38] Chr10:73553258 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4489-6T>C |
single nucleotide variant |
not provided [RCV002134738] |
Chr10:71740816 [GRCh38] Chr10:73500573 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6441C>G (p.Thr2147=) |
single nucleotide variant |
not provided [RCV002080532] |
Chr10:71793369 [GRCh38] Chr10:73553126 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8253A>G (p.Thr2751=) |
single nucleotide variant |
not provided [RCV002080565] |
Chr10:71807351 [GRCh38] Chr10:73567108 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3921G>A (p.Leu1307=) |
single nucleotide variant |
not provided [RCV002176565] |
Chr10:71732192 [GRCh38] Chr10:73491949 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5502+9G>T |
single nucleotide variant |
not provided [RCV002079805] |
Chr10:71784429 [GRCh38] Chr10:73544186 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5815A>C (p.Arg1939=) |
single nucleotide variant |
not provided [RCV002197482] |
Chr10:71785733 [GRCh38] Chr10:73545490 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8895C>G (p.Pro2965=) |
single nucleotide variant |
not provided [RCV002197488] |
Chr10:71809992 [GRCh38] Chr10:73569749 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4278C>G (p.Val1426=) |
single nucleotide variant |
not provided [RCV002146395] |
Chr10:71738566 [GRCh38] Chr10:73498323 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8178+17C>A |
single nucleotide variant |
not provided [RCV002148173] |
Chr10:71806298 [GRCh38] Chr10:73566055 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.289-8del |
deletion |
not provided [RCV002169483] |
Chr10:71510943 [GRCh38] Chr10:73270700 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.8309-15T>C |
single nucleotide variant |
not provided [RCV002113486] |
Chr10:71807501 [GRCh38] Chr10:73567258 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9150G>A (p.Val3050=) |
single nucleotide variant |
not provided [RCV002152628] |
Chr10:71811387 [GRCh38] Chr10:73571144 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.828T>C (p.Val276=) |
single nucleotide variant |
not provided [RCV002152638] |
Chr10:71577988 [GRCh38] Chr10:73337745 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.43T>C (p.Leu15=) |
single nucleotide variant |
not provided [RCV002116667] |
Chr10:71439874 [GRCh38] Chr10:73199631 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7677C>T (p.Asp2559=) |
single nucleotide variant |
not provided [RCV002097348] |
Chr10:71803225 [GRCh38] Chr10:73562982 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.159C>G (p.Thr53=) |
single nucleotide variant |
not provided [RCV002134982] |
Chr10:71510095 [GRCh38] Chr10:73269852 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2588-20T>C |
single nucleotide variant |
not provided [RCV002153761] |
Chr10:71702529 [GRCh38] Chr10:73462286 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.780C>T (p.Ala260=) |
single nucleotide variant |
not provided [RCV002164896] |
Chr10:71577940 [GRCh38] Chr10:73337697 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9934C>T (p.Leu3312=) |
single nucleotide variant |
not provided [RCV002187468] |
Chr10:71815147 [GRCh38] Chr10:73574904 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-20G>C |
single nucleotide variant |
not provided [RCV002072438] |
Chr10:71725352 [GRCh38] Chr10:73485109 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.654C>A (p.Thr218=) |
single nucleotide variant |
not provided [RCV002210203] |
Chr10:71570819 [GRCh38] Chr10:73330576 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2060-12T>A |
single nucleotide variant |
not provided [RCV002193736] |
Chr10:71690456 [GRCh38] Chr10:73450213 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9381-15C>T |
single nucleotide variant |
not provided [RCV002193781] |
Chr10:71812465 [GRCh38] Chr10:73572222 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2290-17C>T |
single nucleotide variant |
not provided [RCV002133471] |
Chr10:71695401 [GRCh38] Chr10:73455158 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3370-5C>T |
single nucleotide variant |
not provided [RCV002200724] |
Chr10:71724040 [GRCh38] Chr10:73483797 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5940G>C (p.Val1980=) |
single nucleotide variant |
not provided [RCV002173392] |
Chr10:71790304 [GRCh38] Chr10:73550061 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9702G>A (p.Val3234=) |
single nucleotide variant |
not provided [RCV002173393] |
Chr10:71813312 [GRCh38] Chr10:73573069 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2763G>A (p.Leu921=) |
single nucleotide variant |
not provided [RCV002174848] |
Chr10:71704940 [GRCh38] Chr10:73464697 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1858+8T>C |
single nucleotide variant |
not provided [RCV002211692] |
Chr10:71679500 [GRCh38] Chr10:73439257 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7257A>G (p.Thr2419=) |
single nucleotide variant |
not provided [RCV002188822] |
Chr10:71799524 [GRCh38] Chr10:73559281 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2847C>A (p.Thr949=) |
single nucleotide variant |
not provided [RCV002146657] |
Chr10:71705024 [GRCh38] Chr10:73464781 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4146C>G (p.Gly1382=) |
single nucleotide variant |
not provided [RCV002208317] |
Chr10:71734281 [GRCh38] Chr10:73494038 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2853C>G (p.Thr951=) |
single nucleotide variant |
not provided [RCV002195392] |
Chr10:71705030 [GRCh38] Chr10:73464787 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8766C>G (p.Ala2922=) |
single nucleotide variant |
not provided [RCV002213882] |
Chr10:71809863 [GRCh38] Chr10:73569620 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6421A>C (p.Arg2141=) |
single nucleotide variant |
not provided [RCV002193395] |
Chr10:71793349 [GRCh38] Chr10:73553106 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6420C>T (p.Tyr2140=) |
single nucleotide variant |
not provided [RCV002125532] |
Chr10:71793348 [GRCh38] Chr10:73553105 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2091C>T (p.Asp697=) |
single nucleotide variant |
not provided [RCV002088687] |
Chr10:71690499 [GRCh38] Chr10:73450256 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1569T>C (p.Tyr523=) |
single nucleotide variant |
not provided [RCV002215179] |
Chr10:71677510 [GRCh38] Chr10:73437267 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9129G>C (p.Arg3043=) |
single nucleotide variant |
not provided [RCV002215774] |
Chr10:71811366 [GRCh38] Chr10:73571123 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9906G>A (p.Glu3302=) |
single nucleotide variant |
not provided [RCV002088766] |
Chr10:71815119 [GRCh38] Chr10:73574876 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.337-16G>A |
single nucleotide variant |
not provided [RCV002126889] |
Chr10:71511104 [GRCh38] Chr10:73270861 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.832+18C>G |
single nucleotide variant |
not provided [RCV002114496] |
Chr10:71578010 [GRCh38] Chr10:73337767 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.624+17G>A |
single nucleotide variant |
not provided [RCV002194720] |
Chr10:71566953 [GRCh38] Chr10:73326710 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7483-8C>T |
single nucleotide variant |
not provided [RCV002213177] |
Chr10:71802890 [GRCh38] Chr10:73562647 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1224G>A (p.Lys408=) |
single nucleotide variant |
not provided [RCV002116900] |
Chr10:71645914 [GRCh38] Chr10:73405671 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.10044C>T (p.Pro3348=) |
single nucleotide variant |
not provided [RCV002095582] |
Chr10:71815257 [GRCh38] Chr10:73575014 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9663T>C (p.Asp3221=) |
single nucleotide variant |
not provided [RCV002107270] |
Chr10:71813273 [GRCh38] Chr10:73573030 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9756G>A (p.Leu3252=) |
single nucleotide variant |
not provided [RCV002115376] |
Chr10:71814969 [GRCh38] Chr10:73574726 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5700C>T (p.Phe1900=) |
single nucleotide variant |
not provided [RCV002116303] |
Chr10:71785088 [GRCh38] Chr10:73544845 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1521G>T (p.Ser507=) |
single nucleotide variant |
not provided [RCV002080008] |
Chr10:71677462 [GRCh38] Chr10:73437219 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7660+18G>A |
single nucleotide variant |
not provided [RCV002093691] |
Chr10:71803093 [GRCh38] Chr10:73562850 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8550G>A (p.Glu2850=) |
single nucleotide variant |
not provided [RCV002105574] |
Chr10:71807757 [GRCh38] Chr10:73567514 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5430C>T (p.Asp1810=) |
single nucleotide variant |
not provided [RCV002172376] |
Chr10:71784348 [GRCh38] Chr10:73544105 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8061C>T (p.Tyr2687=) |
single nucleotide variant |
not provided [RCV002097717] |
Chr10:71805994 [GRCh38] Chr10:73565751 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9511-16C>T |
single nucleotide variant |
not provided [RCV002171403] |
Chr10:71812752 [GRCh38] Chr10:73572509 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8901T>C (p.Arg2967=) |
single nucleotide variant |
not provided [RCV002108915] |
Chr10:71809998 [GRCh38] Chr10:73569755 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5625C>T (p.Ala1875=) |
single nucleotide variant |
not provided [RCV002151560] |
Chr10:71785013 [GRCh38] Chr10:73544770 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2874C>T (p.Ile958=) |
single nucleotide variant |
not provided [RCV002096557] |
Chr10:71705051 [GRCh38] Chr10:73464808 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1782C>T (p.Asn594=) |
single nucleotide variant |
not provided [RCV002134266] |
Chr10:71679416 [GRCh38] Chr10:73439173 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2469C>T (p.Phe823=) |
single nucleotide variant |
not provided [RCV002197159] |
Chr10:71702093 [GRCh38] Chr10:73461850 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8980-19A>G |
single nucleotide variant |
not provided [RCV002172179] |
Chr10:71810453 [GRCh38] Chr10:73570210 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7134G>T (p.Gly2378=) |
single nucleotide variant |
not provided [RCV002134909] |
Chr10:71799190 [GRCh38] Chr10:73558947 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1212C>T (p.Ser404=) |
single nucleotide variant |
not provided [RCV002106347] |
Chr10:71645902 [GRCh38] Chr10:73405659 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1134+16C>T |
single nucleotide variant |
not provided [RCV002173571] |
Chr10:71617409 [GRCh38] Chr10:73377166 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1191C>T (p.His397=) |
single nucleotide variant |
not provided [RCV002134198] |
Chr10:71645881 [GRCh38] Chr10:73405638 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2253G>A (p.Gly751=) |
single nucleotide variant |
not provided [RCV002133103] |
Chr10:71694223 [GRCh38] Chr10:73453980 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9075C>T (p.Asp3025=) |
single nucleotide variant |
not provided [RCV002084556] |
Chr10:71810567 [GRCh38] Chr10:73570324 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3444C>T (p.Asn1148=) |
single nucleotide variant |
not provided [RCV002160356] |
Chr10:71725385 [GRCh38] Chr10:73485142 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6235C>T (p.Leu2079=) |
single nucleotide variant |
not provided [RCV002133729] |
Chr10:71791317 [GRCh38] Chr10:73551074 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.660C>A (p.Ala220=) |
single nucleotide variant |
not provided [RCV002079978] |
Chr10:71570825 [GRCh38] Chr10:73330582 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9279-16C>T |
single nucleotide variant |
not provided [RCV002115296] |
Chr10:71811697 [GRCh38] Chr10:73571454 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1014T>C (p.Val338=) |
single nucleotide variant |
not provided [RCV002106591] |
Chr10:71617273 [GRCh38] Chr10:73377030 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8722+11G>C |
single nucleotide variant |
not provided [RCV002089616] |
Chr10:71808018 [GRCh38] Chr10:73567775 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1135-10C>T |
single nucleotide variant |
not provided [RCV002167421] |
Chr10:71643851 [GRCh38] Chr10:73403608 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7068C>G (p.Ala2356=) |
single nucleotide variant |
not provided [RCV002129232] |
Chr10:71799124 [GRCh38] Chr10:73558881 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4431C>G (p.Gly1477=) |
single nucleotide variant |
not provided [RCV002093143] |
Chr10:71739715 [GRCh38] Chr10:73499472 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1291-7C>T |
single nucleotide variant |
not provided [RCV002195451] |
Chr10:71646452 [GRCh38] Chr10:73406209 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9927C>A (p.Gly3309=) |
single nucleotide variant |
not provided [RCV002107889] |
Chr10:71815140 [GRCh38] Chr10:73574897 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.337-17C>T |
single nucleotide variant |
not provided [RCV002206580] |
Chr10:71511103 [GRCh38] Chr10:73270860 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1677C>T (p.Pro559=) |
single nucleotide variant |
not provided [RCV002208142] |
Chr10:71677618 [GRCh38] Chr10:73437375 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4800C>T (p.Tyr1600=) |
single nucleotide variant |
not provided [RCV002092748] |
Chr10:71741876 [GRCh38] Chr10:73501633 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1141-15G>A |
single nucleotide variant |
not provided [RCV002093186] |
Chr10:71645816 [GRCh38] Chr10:73405573 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9810C>T (p.His3270=) |
single nucleotide variant |
not provided [RCV002112729] |
Chr10:71815023 [GRCh38] Chr10:73574780 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6243C>T (p.Asn2081=) |
single nucleotide variant |
not provided [RCV002173648] |
Chr10:71791325 [GRCh38] Chr10:73551082 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9255C>T (p.Leu3085=) |
single nucleotide variant |
not provided [RCV002194225] |
Chr10:71811567 [GRCh38] Chr10:73571324 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1905G>T (p.Gly635=) |
single nucleotide variant |
not provided [RCV002195556] |
Chr10:71682491 [GRCh38] Chr10:73442248 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9405C>G (p.Pro3135=) |
single nucleotide variant |
not provided [RCV002152357] |
Chr10:71812504 [GRCh38] Chr10:73572261 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5046C>T (p.Thr1682=) |
single nucleotide variant |
not provided [RCV002196637] |
Chr10:71777880 [GRCh38] Chr10:73537637 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2547G>A (p.Glu849=) |
single nucleotide variant |
not provided [RCV002116443] |
Chr10:71702171 [GRCh38] Chr10:73461928 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8682T>C (p.Leu2894=) |
single nucleotide variant |
not provided [RCV002077669] |
Chr10:71807967 [GRCh38] Chr10:73567724 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2953+7G>C |
single nucleotide variant |
not provided [RCV002169201] |
Chr10:71705137 [GRCh38] Chr10:73464894 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8723-18C>T |
single nucleotide variant |
not provided [RCV002094147] |
Chr10:71809802 [GRCh38] Chr10:73569559 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4210-12G>C |
single nucleotide variant |
not provided [RCV002094269] |
Chr10:71738486 [GRCh38] Chr10:73498243 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9093C>G (p.Ile3031Met) |
single nucleotide variant |
not provided [RCV001944932] |
Chr10:71811330 [GRCh38] Chr10:73571087 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9510+9G>A |
single nucleotide variant |
not provided [RCV002071501] |
Chr10:71812618 [GRCh38] Chr10:73572375 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8382G>A (p.Glu2794=) |
single nucleotide variant |
not provided [RCV002077702] |
Chr10:71807589 [GRCh38] Chr10:73567346 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1098C>T (p.Ala366=) |
single nucleotide variant |
not provided [RCV002194922] |
Chr10:71617357 [GRCh38] Chr10:73377114 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.207G>C (p.Val69=) |
single nucleotide variant |
not provided [RCV002172466] |
Chr10:71510143 [GRCh38] Chr10:73269900 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6876G>A (p.Gln2292=) |
single nucleotide variant |
not provided [RCV002116453] |
Chr10:71798400 [GRCh38] Chr10:73558157 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2949C>A (p.Ile983=) |
single nucleotide variant |
not provided [RCV002086125] |
Chr10:71705126 [GRCh38] Chr10:73464883 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9996C>T (p.Ala3332=) |
single nucleotide variant |
not provided [RCV002165006] |
Chr10:71815209 [GRCh38] Chr10:73574966 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6799C>T (p.Leu2267=) |
single nucleotide variant |
not provided [RCV002148189] |
Chr10:71797190 [GRCh38] Chr10:73556947 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2040G>C (p.Val680=) |
single nucleotide variant |
not provided [RCV002206962] |
Chr10:71687700 [GRCh38] Chr10:73447457 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3370-15C>T |
single nucleotide variant |
not provided [RCV002213500] |
Chr10:71724030 [GRCh38] Chr10:73483787 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.849C>A (p.Ile283=) |
single nucleotide variant |
not provided [RCV002110122] |
Chr10:71615520 [GRCh38] Chr10:73375277 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1431C>T (p.Thr477=) |
single nucleotide variant |
not provided [RCV002107168] |
Chr10:71646599 [GRCh38] Chr10:73406356 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4131G>A (p.Val1377=) |
single nucleotide variant |
not provided [RCV002219840] |
Chr10:71734266 [GRCh38] Chr10:73494023 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3930C>T (p.Ala1310=) |
single nucleotide variant |
not provided [RCV002219962] |
Chr10:71732201 [GRCh38] Chr10:73491958 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6829+11C>G |
single nucleotide variant |
not provided [RCV002168131] |
Chr10:71797231 [GRCh38] Chr10:73556988 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1986+8C>T |
single nucleotide variant |
not provided [RCV002131081] |
Chr10:71682580 [GRCh38] Chr10:73442337 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2060-5T>C |
single nucleotide variant |
not provided [RCV002151967] |
Chr10:71690463 [GRCh38] Chr10:73450220 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9380+7G>T |
single nucleotide variant |
not provided [RCV002095718] |
Chr10:71812022 [GRCh38] Chr10:73571779 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4846-12T>G |
single nucleotide variant |
not provided [RCV002133961] |
Chr10:71777668 [GRCh38] Chr10:73537425 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4500T>G (p.Ser1500=) |
single nucleotide variant |
not provided [RCV002173827] |
Chr10:71740833 [GRCh38] Chr10:73500590 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2060-14T>A |
single nucleotide variant |
not provided [RCV002076722] |
Chr10:71690454 [GRCh38] Chr10:73450211 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8070C>T (p.Ile2690=) |
single nucleotide variant |
not provided [RCV002197013] |
Chr10:71806173 [GRCh38] Chr10:73565930 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5502+9G>A |
single nucleotide variant |
not provided [RCV002097123] |
Chr10:71784429 [GRCh38] Chr10:73544186 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8640T>G (p.Leu2880=) |
single nucleotide variant |
not provided [RCV002149860] |
Chr10:71807925 [GRCh38] Chr10:73567682 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.684T>C (p.Asp228=) |
single nucleotide variant |
not provided [RCV002131407] |
Chr10:71570849 [GRCh38] Chr10:73330606 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8064+10_8064+21del |
deletion |
not provided [RCV002212047] |
Chr10:71806004..71806015 [GRCh38] Chr10:73565761..73565772 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4206+16G>A |
single nucleotide variant |
not provided [RCV002110539] |
Chr10:71734357 [GRCh38] Chr10:73494114 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2954-18G>A |
single nucleotide variant |
not provided [RCV002092214] |
Chr10:71706879 [GRCh38] Chr10:73466636 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1758A>G (p.Thr586=) |
single nucleotide variant |
not provided [RCV002114378] |
Chr10:71679392 [GRCh38] Chr10:73439149 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5280G>A (p.Gly1760=) |
single nucleotide variant |
not provided [RCV002176926] |
Chr10:71779359 [GRCh38] Chr10:73539116 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.430-17T>A |
single nucleotide variant |
not provided [RCV002136956] |
Chr10:71566725 [GRCh38] Chr10:73326482 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1554T>C (p.Ile518=) |
single nucleotide variant |
not provided [RCV002136977] |
Chr10:71677495 [GRCh38] Chr10:73437252 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8538C>T (p.Phe2846=) |
single nucleotide variant |
not provided [RCV002199410] |
Chr10:71807745 [GRCh38] Chr10:73567502 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5718G>A (p.Gly1906=) |
single nucleotide variant |
not provided [RCV002121381] |
Chr10:71785636 [GRCh38] Chr10:73545393 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6441C>T (p.Thr2147=) |
single nucleotide variant |
not provided [RCV002081393] |
Chr10:71793369 [GRCh38] Chr10:73553126 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9077+9G>A |
single nucleotide variant |
not provided [RCV002218487] |
Chr10:71810578 [GRCh38] Chr10:73570335 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9634-8T>C |
single nucleotide variant |
not provided [RCV002159713] |
Chr10:71813236 [GRCh38] Chr10:73572993 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7873-18T>C |
single nucleotide variant |
not provided [RCV002117757] |
Chr10:71805788 [GRCh38] Chr10:73565545 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.145+20G>T |
single nucleotide variant |
not provided [RCV002119769] |
Chr10:71446415 [GRCh38] Chr10:73206172 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3141C>T (p.Tyr1047=) |
single nucleotide variant |
not provided [RCV002083417] |
Chr10:71709132 [GRCh38] Chr10:73468889 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1278C>T (p.Arg426=) |
single nucleotide variant |
not provided [RCV002156349] |
Chr10:71645968 [GRCh38] Chr10:73405725 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6045C>T (p.Ser2015=) |
single nucleotide variant |
not provided [RCV002156352] |
Chr10:71790409 [GRCh38] Chr10:73550166 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1636C>A (p.Arg546=) |
single nucleotide variant |
not provided [RCV002156354] |
Chr10:71677577 [GRCh38] Chr10:73437334 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9972G>A (p.Glu3324=) |
single nucleotide variant |
not provided [RCV002121775] |
Chr10:71815185 [GRCh38] Chr10:73574942 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.483G>A (p.Leu161=) |
single nucleotide variant |
not provided [RCV002179318] |
Chr10:71566795 [GRCh38] Chr10:73326552 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9192C>T (p.Ala3064=) |
single nucleotide variant |
not provided [RCV002098375] |
Chr10:71811429 [GRCh38] Chr10:73571186 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8309-10C>T |
single nucleotide variant |
not provided [RCV002179667] |
Chr10:71807506 [GRCh38] Chr10:73567263 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5068-11G>A |
single nucleotide variant |
not provided [RCV002120185] |
Chr10:71778178 [GRCh38] Chr10:73537935 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.625-11C>T |
single nucleotide variant |
not provided [RCV002100604] |
Chr10:71570779 [GRCh38] Chr10:73330536 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7650C>A (p.Gly2550=) |
single nucleotide variant |
not provided [RCV002179743] |
Chr10:71803065 [GRCh38] Chr10:73562822 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.624+15T>C |
single nucleotide variant |
not provided [RCV002137864] |
Chr10:71566951 [GRCh38] Chr10:73326708 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9319+8A>G |
single nucleotide variant |
not provided [RCV002177950] |
Chr10:71811761 [GRCh38] Chr10:73571518 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4671C>T (p.Ile1557=) |
single nucleotide variant |
not provided [RCV002200644] |
Chr10:71741747 [GRCh38] Chr10:73501504 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5424G>A (p.Glu1808=) |
single nucleotide variant |
not provided [RCV002202533] |
Chr10:71784342 [GRCh38] Chr10:73544099 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7362+20C>T |
single nucleotide variant |
not provided [RCV002176294] |
Chr10:71799649 [GRCh38] Chr10:73559406 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5028A>G (p.Ala1676=) |
single nucleotide variant |
not provided [RCV002178060] |
Chr10:71777862 [GRCh38] Chr10:73537619 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1888G>C (p.Glu630Gln) |
single nucleotide variant |
not specified [RCV002222949] |
Chr10:71682474 [GRCh38] Chr10:73442231 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2677C>T (p.Leu893=) |
single nucleotide variant |
not provided [RCV002182007] |
Chr10:71702638 [GRCh38] Chr10:73462395 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.549C>A (p.Ala183=) |
single nucleotide variant |
not provided [RCV002142037] |
Chr10:71566861 [GRCh38] Chr10:73326618 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7003C>T (p.Leu2335=) |
single nucleotide variant |
not provided [RCV002142093] |
Chr10:71798527 [GRCh38] Chr10:73558284 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6759C>T (p.Thr2253=) |
single nucleotide variant |
not provided [RCV002202473] |
Chr10:71797150 [GRCh38] Chr10:73556907 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8005A>G (p.Ile2669Val) |
single nucleotide variant |
not specified [RCV002223098] |
Chr10:71805938 [GRCh38] Chr10:73565695 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2106G>A (p.Arg702=) |
single nucleotide variant |
not provided [RCV002102945] |
Chr10:71690514 [GRCh38] Chr10:73450271 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7055-9G>A |
single nucleotide variant |
not provided [RCV002160993] |
Chr10:71799102 [GRCh38] Chr10:73558859 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1374C>A (p.Pro458=) |
single nucleotide variant |
not provided [RCV002199153] |
Chr10:71646542 [GRCh38] Chr10:73406299 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5701A>C (p.Ile1901Leu) |
single nucleotide variant |
not provided [RCV002222826] |
Chr10:71785089 [GRCh38] Chr10:73544846 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.882C>A (p.Thr294=) |
single nucleotide variant |
not provided [RCV002082817] |
Chr10:71615553 [GRCh38] Chr10:73375310 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2625A>G (p.Thr875=) |
single nucleotide variant |
not provided [RCV002155517] |
Chr10:71702586 [GRCh38] Chr10:73462343 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1215C>A (p.Val405=) |
single nucleotide variant |
not provided [RCV002157414] |
Chr10:71645905 [GRCh38] Chr10:73405662 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9267C>T (p.Tyr3089=) |
single nucleotide variant |
not provided [RCV002157435] |
Chr10:71811579 [GRCh38] Chr10:73571336 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1284C>T (p.Asp428=) |
single nucleotide variant |
not provided [RCV002180525] |
Chr10:71645974 [GRCh38] Chr10:73405731 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8979+17C>A |
single nucleotide variant |
not provided [RCV002164771] |
Chr10:71810093 [GRCh38] Chr10:73569850 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5503-5C>T |
single nucleotide variant |
not provided [RCV002101658] |
Chr10:71784886 [GRCh38] Chr10:73544643 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6830-4A>G |
single nucleotide variant |
not provided [RCV002121318] |
Chr10:71798350 [GRCh38] Chr10:73558107 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4618-9T>C |
single nucleotide variant |
not provided [RCV002083245] |
Chr10:71741685 [GRCh38] Chr10:73501442 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4924C>T (p.Leu1642=) |
single nucleotide variant |
not provided [RCV002220341] |
Chr10:71777758 [GRCh38] Chr10:73537515 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2445C>T (p.Tyr815=) |
single nucleotide variant |
not provided [RCV002181198] |
Chr10:71702069 [GRCh38] Chr10:73461826 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.624+12T>A |
single nucleotide variant |
not provided [RCV002163320] |
Chr10:71566948 [GRCh38] Chr10:73326705 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3261C>G (p.Thr1087=) |
single nucleotide variant |
not provided [RCV002175493] |
Chr10:71712705 [GRCh38] Chr10:73472462 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4632T>C (p.Gly1544=) |
single nucleotide variant |
not provided [RCV002083540] |
Chr10:71741708 [GRCh38] Chr10:73501465 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4845+9T>C |
single nucleotide variant |
not provided [RCV002216734] |
Chr10:71741930 [GRCh38] Chr10:73501687 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002496182]|not provided [RCV003418418]|not specified [RCV002247932] |
Chr10:71751727 [GRCh38] Chr10:73511484 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.9381-6C>T |
single nucleotide variant |
not provided [RCV002198224] |
Chr10:71812474 [GRCh38] Chr10:73572231 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1011G>T (p.Leu337=) |
single nucleotide variant |
not provided [RCV002137802] |
Chr10:71617270 [GRCh38] Chr10:73377027 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6921G>A (p.Glu2307=) |
single nucleotide variant |
not provided [RCV002177678] |
Chr10:71798445 [GRCh38] Chr10:73558202 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5502+12G>A |
single nucleotide variant |
not provided [RCV002216948] |
Chr10:71784432 [GRCh38] Chr10:73544189 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7914G>C (p.Thr2638=) |
single nucleotide variant |
not provided [RCV002143222] |
Chr10:71805847 [GRCh38] Chr10:73565604 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6713-17C>A |
single nucleotide variant |
not provided [RCV002081858] |
Chr10:71797087 [GRCh38] Chr10:73556844 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4407C>T (p.Ile1469=) |
single nucleotide variant |
not provided [RCV002154525] |
Chr10:71739691 [GRCh38] Chr10:73499448 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2588-10G>C |
single nucleotide variant |
not provided [RCV002162061] |
Chr10:71702539 [GRCh38] Chr10:73462296 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9225C>T (p.Leu3075=) |
single nucleotide variant |
not provided [RCV002118267] |
Chr10:71811537 [GRCh38] Chr10:73571294 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6963G>A (p.Val2321=) |
single nucleotide variant |
not provided [RCV002200363] |
Chr10:71798487 [GRCh38] Chr10:73558244 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2955G>C (p.Val985=) |
single nucleotide variant |
not provided [RCV002200375] |
Chr10:71706898 [GRCh38] Chr10:73466655 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9381-19T>C |
single nucleotide variant |
not provided [RCV002143488] |
Chr10:71812461 [GRCh38] Chr10:73572218 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8979+20G>A |
single nucleotide variant |
not provided [RCV002143489] |
Chr10:71810096 [GRCh38] Chr10:73569853 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6118C>T (p.Leu2040=) |
single nucleotide variant |
not provided [RCV002084012] |
Chr10:71791200 [GRCh38] Chr10:73550957 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4920G>A (p.Glu1640=) |
single nucleotide variant |
not provided [RCV002082234] |
Chr10:71777754 [GRCh38] Chr10:73537511 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1596G>T (p.Thr532=) |
single nucleotide variant |
not provided [RCV002183774] |
Chr10:71677537 [GRCh38] Chr10:73437294 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6600C>T (p.Asp2200=) |
single nucleotide variant |
not provided [RCV002082323] |
Chr10:71793528 [GRCh38] Chr10:73553285 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6807G>A (p.Glu2269=) |
single nucleotide variant |
not provided [RCV002099003] |
Chr10:71797198 [GRCh38] Chr10:73556955 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.146-10G>T |
single nucleotide variant |
not provided [RCV002100890] |
Chr10:71510072 [GRCh38] Chr10:73269829 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6253+7A>C |
single nucleotide variant |
not provided [RCV002142121] |
Chr10:71791342 [GRCh38] Chr10:73551099 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1413G>A (p.Glu471=) |
single nucleotide variant |
not provided [RCV002160913] |
Chr10:71646581 [GRCh38] Chr10:73406338 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5532C>T (p.Ile1844=) |
single nucleotide variant |
not provided [RCV002162560] |
Chr10:71784920 [GRCh38] Chr10:73544677 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.754-7T>C |
single nucleotide variant |
not provided [RCV002120647] |
Chr10:71577907 [GRCh38] Chr10:73337664 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4359+7C>T |
single nucleotide variant |
not provided [RCV002142236] |
Chr10:71738654 [GRCh38] Chr10:73498411 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9903C>G (p.Pro3301=) |
single nucleotide variant |
not provided [RCV002160966] |
Chr10:71815116 [GRCh38] Chr10:73574873 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5295C>T (p.Thr1765=) |
single nucleotide variant |
not provided [RCV002155280] |
Chr10:71779374 [GRCh38] Chr10:73539131 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4839C>A (p.Thr1613=) |
single nucleotide variant |
not provided [RCV002099289] |
Chr10:71741915 [GRCh38] Chr10:73501672 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3108T>C (p.Gly1036=) |
single nucleotide variant |
not provided [RCV002184271] |
Chr10:71709099 [GRCh38] Chr10:73468856 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6954G>C (p.Val2318=) |
single nucleotide variant |
not provided [RCV002164565] |
Chr10:71798478 [GRCh38] Chr10:73558235 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1290+13T>A |
single nucleotide variant |
not provided [RCV002164571] |
Chr10:71645993 [GRCh38] Chr10:73405750 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1740G>T (p.Leu580=) |
single nucleotide variant |
not provided [RCV002164639] |
Chr10:71677681 [GRCh38] Chr10:73437438 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1842G>A (p.Leu614=) |
single nucleotide variant |
not provided [RCV002119070] |
Chr10:71679476 [GRCh38] Chr10:73439233 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4489-10C>T |
single nucleotide variant |
not provided [RCV002082798] |
Chr10:71740812 [GRCh38] Chr10:73500569 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1878C>G (p.Pro626=) |
single nucleotide variant |
not provided [RCV002082825] |
Chr10:71682464 [GRCh38] Chr10:73442221 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2059+10C>G |
single nucleotide variant |
not provided [RCV002099484] |
Chr10:71687729 [GRCh38] Chr10:73447486 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1590C>T (p.Thr530=) |
single nucleotide variant |
not provided [RCV002219974] |
Chr10:71677531 [GRCh38] Chr10:73437288 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7014G>T (p.Leu2338=) |
single nucleotide variant |
not provided [RCV002219975] |
Chr10:71798538 [GRCh38] Chr10:73558295 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8322G>A (p.Glu2774=) |
single nucleotide variant |
not provided [RCV002176874] |
Chr10:71807529 [GRCh38] Chr10:73567286 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6573T>C (p.Thr2191=) |
single nucleotide variant |
not provided [RCV002176978] |
Chr10:71793501 [GRCh38] Chr10:73553258 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5646C>T (p.Cys1882=) |
single nucleotide variant |
not provided [RCV002119335] |
Chr10:71785034 [GRCh38] Chr10:73544791 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7611T>C (p.Asp2537=) |
single nucleotide variant |
not provided [RCV002119379] |
Chr10:71803026 [GRCh38] Chr10:73562783 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.624+12T>C |
single nucleotide variant |
not provided [RCV002201490] |
Chr10:71566948 [GRCh38] Chr10:73326705 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2661C>T (p.Asp887=) |
single nucleotide variant |
not provided [RCV002139097] |
Chr10:71702622 [GRCh38] Chr10:73462379 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9796C>T (p.Leu3266=) |
single nucleotide variant |
not provided [RCV002157826] |
Chr10:71815009 [GRCh38] Chr10:73574766 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.429+16dup |
duplication |
not provided [RCV002122750] |
Chr10:71511224..71511225 [GRCh38] Chr10:73270981..73270982 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.945+19C>A |
single nucleotide variant |
not provided [RCV002097947] |
Chr10:71615635 [GRCh38] Chr10:73375392 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5748C>G (p.Arg1916=) |
single nucleotide variant |
not provided [RCV002156007] |
Chr10:71785666 [GRCh38] Chr10:73545423 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7815T>C (p.Asn2605=) |
single nucleotide variant |
not provided [RCV002139169] |
Chr10:71803363 [GRCh38] Chr10:73563120 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6087G>A (p.Arg2029=) |
single nucleotide variant |
not provided [RCV002161157] |
Chr10:71791169 [GRCh38] Chr10:73550926 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5820+10G>C |
single nucleotide variant |
not provided [RCV002218661] |
Chr10:71785748 [GRCh38] Chr10:73545505 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1398C>T (p.Asn466=) |
single nucleotide variant |
not provided [RCV002220480] |
Chr10:71646566 [GRCh38] Chr10:73406323 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4618-6del |
deletion |
not provided [RCV002137456] |
Chr10:71741688 [GRCh38] Chr10:73501445 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9633+15C>G |
single nucleotide variant |
not provided [RCV002102091] |
Chr10:71812905 [GRCh38] Chr10:73572662 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9054C>T (p.Thr3018=) |
single nucleotide variant |
not provided [RCV002201772] |
Chr10:71810546 [GRCh38] Chr10:73570303 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4618-8C>T |
single nucleotide variant |
not provided [RCV002121631] |
Chr10:71741686 [GRCh38] Chr10:73501443 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.193C>T (p.Leu65=) |
single nucleotide variant |
not provided [RCV002216910] |
Chr10:71510129 [GRCh38] Chr10:73269886 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8169G>A (p.Val2723=) |
single nucleotide variant |
not provided [RCV002179461] |
Chr10:71806272 [GRCh38] Chr10:73566029 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.27C>T (p.Cys9=) |
single nucleotide variant |
not provided [RCV002103725] |
Chr10:71439858 [GRCh38] Chr10:73199615 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1858+12del |
deletion |
not provided [RCV002117944] |
Chr10:71679501 [GRCh38] Chr10:73439258 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.7661-10C>T |
single nucleotide variant |
not provided [RCV002202057] |
Chr10:71803199 [GRCh38] Chr10:73562956 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6987G>C (p.Gly2329=) |
single nucleotide variant |
not provided [RCV002100369] |
Chr10:71798511 [GRCh38] Chr10:73558268 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5616T>C (p.His1872=) |
single nucleotide variant |
not provided [RCV002161552] |
Chr10:71785004 [GRCh38] Chr10:73544761 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3228C>A (p.Gly1076=) |
single nucleotide variant |
not provided [RCV002104020] |
Chr10:71712672 [GRCh38] Chr10:73472429 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7224+7G>T |
single nucleotide variant |
not provided [RCV002202117] |
Chr10:71799287 [GRCh38] Chr10:73559044 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9510+11G>C |
single nucleotide variant |
not provided [RCV002217266] |
Chr10:71812620 [GRCh38] Chr10:73572377 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7660+10C>T |
single nucleotide variant |
not provided [RCV002154767] |
Chr10:71803085 [GRCh38] Chr10:73562842 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1350C>A (p.Leu450=) |
single nucleotide variant |
not provided [RCV002082112] |
Chr10:71646518 [GRCh38] Chr10:73406275 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.754-18del |
deletion |
not provided [RCV002098998] |
Chr10:71577894 [GRCh38] Chr10:73337651 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6050-16C>T |
single nucleotide variant |
not provided [RCV002200734] |
Chr10:71791116 [GRCh38] Chr10:73550873 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6570C>A (p.Gly2190=) |
single nucleotide variant |
not provided [RCV002143391] |
Chr10:71793498 [GRCh38] Chr10:73553255 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.471A>C (p.Thr157=) |
single nucleotide variant |
not provided [RCV002102705] |
Chr10:71566783 [GRCh38] Chr10:73326540 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2298C>T (p.Ile766=) |
single nucleotide variant |
not provided [RCV002176393] |
Chr10:71695426 [GRCh38] Chr10:73455183 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8985T>C (p.His2995=) |
single nucleotide variant |
not provided [RCV002082625] |
Chr10:71810477 [GRCh38] Chr10:73570234 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7917C>T (p.Asp2639=) |
single nucleotide variant |
not provided [RCV002120810] |
Chr10:71805850 [GRCh38] Chr10:73565607 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2265C>T (p.His755=) |
single nucleotide variant |
not provided [RCV002141643] |
Chr10:71694235 [GRCh38] Chr10:73453992 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5187+19G>A |
single nucleotide variant |
not provided [RCV002123966] |
Chr10:71778327 [GRCh38] Chr10:73538084 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2398-7C>T |
single nucleotide variant |
not provided [RCV002101302] |
Chr10:71702015 [GRCh38] Chr10:73461772 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2587+16G>A |
single nucleotide variant |
not provided [RCV002138685] |
Chr10:71702227 [GRCh38] Chr10:73461984 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4320T>A (p.Thr1440=) |
single nucleotide variant |
not provided [RCV002162405] |
Chr10:71738608 [GRCh38] Chr10:73498365 [GRCh37] Chr10:10q22.1 |
likely benign |
NC_000010.10:g.(73454017_73455174)_73468962del |
deletion |
Usher syndrome [RCV002222929] |
Chr10:73455174..73468962 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7284T>C (p.Asp2428=) |
single nucleotide variant |
not provided [RCV002158950] |
Chr10:71799551 [GRCh38] Chr10:73559308 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1572G>A (p.Glu524=) |
single nucleotide variant |
not provided [RCV002176797] |
Chr10:71677513 [GRCh38] Chr10:73437270 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6945C>T (p.Leu2315=) |
single nucleotide variant |
not provided [RCV002203238] |
Chr10:71798469 [GRCh38] Chr10:73558226 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.711C>A (p.Ile237=) |
single nucleotide variant |
not provided [RCV002175278] |
Chr10:71570876 [GRCh38] Chr10:73330633 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3009T>G (p.Ser1003=) |
single nucleotide variant |
not provided [RCV002180359] |
Chr10:71706952 [GRCh38] Chr10:73466709 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9380+12A>C |
single nucleotide variant |
not provided [RCV002119640] |
Chr10:71812027 [GRCh38] Chr10:73571784 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1776C>T (p.Pro592=) |
single nucleotide variant |
not provided [RCV002156083] |
Chr10:71679410 [GRCh38] Chr10:73439167 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7962G>A (p.Lys2654=) |
single nucleotide variant |
not provided [RCV002156087] |
Chr10:71805895 [GRCh38] Chr10:73565652 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5202G>A (p.Val1734=) |
single nucleotide variant |
not provided [RCV002203013] |
Chr10:71779281 [GRCh38] Chr10:73539038 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6115C>T (p.Leu2039=) |
single nucleotide variant |
not provided [RCV002161624] |
Chr10:71791197 [GRCh38] Chr10:73550954 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1638G>T (p.Arg546=) |
single nucleotide variant |
not provided [RCV002161679] |
Chr10:71677579 [GRCh38] Chr10:73437336 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2349C>T (p.Tyr783=) |
single nucleotide variant |
not provided [RCV002179099] |
Chr10:71695477 [GRCh38] Chr10:73455234 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5595T>C (p.Pro1865=) |
single nucleotide variant |
not provided [RCV002179355] |
Chr10:71784983 [GRCh38] Chr10:73544740 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6713-9G>T |
single nucleotide variant |
not provided [RCV002158152] |
Chr10:71797095 [GRCh38] Chr10:73556852 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5331G>A (p.Gly1777=) |
single nucleotide variant |
not provided [RCV002155969] |
Chr10:71779410 [GRCh38] Chr10:73539167 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.69C>A (p.Gly23=) |
single nucleotide variant |
not provided [RCV002119621] |
Chr10:71446319 [GRCh38] Chr10:73206076 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.54C>T (p.Ile18=) |
single nucleotide variant |
not provided [RCV002154154] |
Chr10:71439885 [GRCh38] Chr10:73199642 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1752+17C>T |
single nucleotide variant |
not provided [RCV002220766] |
Chr10:71677710 [GRCh38] Chr10:73437467 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5188-7A>G |
single nucleotide variant |
not provided [RCV002104184] |
Chr10:71779260 [GRCh38] Chr10:73539017 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5427G>A (p.Leu1809=) |
single nucleotide variant |
not provided [RCV002154514] |
Chr10:71784345 [GRCh38] Chr10:73544102 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5821-8C>T |
single nucleotide variant |
not provided [RCV002139770] |
Chr10:71788932 [GRCh38] Chr10:73548689 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6142C>T (p.Leu2048=) |
single nucleotide variant |
not provided [RCV002203446] |
Chr10:71791224 [GRCh38] Chr10:73550981 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8289C>T (p.Ile2763=) |
single nucleotide variant |
not provided [RCV002104050] |
Chr10:71807387 [GRCh38] Chr10:73567144 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8346T>C (p.Asp2782=) |
single nucleotide variant |
not provided [RCV002175825] |
Chr10:71807553 [GRCh38] Chr10:73567310 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7661-5G>A |
single nucleotide variant |
not provided [RCV002198337] |
Chr10:71803204 [GRCh38] Chr10:73562961 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8133C>G (p.Ala2711=) |
single nucleotide variant |
not provided [RCV002156576] |
Chr10:71806236 [GRCh38] Chr10:73565993 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1450-11C>T |
single nucleotide variant |
not provided [RCV002219499] |
Chr10:71675101 [GRCh38] Chr10:73434858 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.481T>C (p.Leu161=) |
single nucleotide variant |
not provided [RCV002183841] |
Chr10:71566793 [GRCh38] Chr10:73326550 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9077+11del |
deletion |
not provided [RCV002183876] |
Chr10:71810577 [GRCh38] Chr10:73570334 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3192C>A (p.Ala1064=) |
single nucleotide variant |
not provided [RCV002183943] |
Chr10:71709183 [GRCh38] Chr10:73468940 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2398-10T>C |
single nucleotide variant |
not provided [RCV002157029] |
Chr10:71702012 [GRCh38] Chr10:73461769 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4365C>A (p.Val1455=) |
single nucleotide variant |
not provided [RCV002184027] |
Chr10:71739649 [GRCh38] Chr10:73499406 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6525C>A (p.Leu2175=) |
single nucleotide variant |
not provided [RCV002156849] |
Chr10:71793453 [GRCh38] Chr10:73553210 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1443A>G (p.Thr481=) |
single nucleotide variant |
not provided [RCV002179963] |
Chr10:71646611 [GRCh38] Chr10:73406368 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1380C>T (p.Phe460=) |
single nucleotide variant |
not provided [RCV002204066] |
Chr10:71646548 [GRCh38] Chr10:73406305 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5997C>A (p.Thr1999=) |
single nucleotide variant |
not provided [RCV002136454] |
Chr10:71790361 [GRCh38] Chr10:73550118 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.430-13C>T |
single nucleotide variant |
not provided [RCV002084324] |
Chr10:71566729 [GRCh38] Chr10:73326486 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8265T>C (p.Asp2755=) |
single nucleotide variant |
not provided [RCV002158832] |
Chr10:71807363 [GRCh38] Chr10:73567120 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1404C>T (p.Ser468=) |
single nucleotide variant |
not provided [RCV002099099] |
Chr10:71646572 [GRCh38] Chr10:73406329 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6557C>T (p.Ser2186Leu) |
single nucleotide variant |
not provided [RCV003101253]|not specified [RCV002222909] |
Chr10:71793485 [GRCh38] Chr10:73553242 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7029T>C (p.Tyr2343=) |
single nucleotide variant |
not provided [RCV002157386] |
Chr10:71798553 [GRCh38] Chr10:73558310 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.68-19C>T |
single nucleotide variant |
not provided [RCV002101443] |
Chr10:71446299 [GRCh38] Chr10:73206056 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9096T>C (p.Asp3032=) |
single nucleotide variant |
not provided [RCV002140516] |
Chr10:71811333 [GRCh38] Chr10:73571090 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2166T>C (p.Asn722=) |
single nucleotide variant |
not provided [RCV002083121] |
Chr10:71690574 [GRCh38] Chr10:73450331 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7899C>T (p.Tyr2633=) |
single nucleotide variant |
not provided [RCV002202790] |
Chr10:71805832 [GRCh38] Chr10:73565589 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2526G>C (p.Arg842=) |
single nucleotide variant |
not provided [RCV002142792] |
Chr10:71702150 [GRCh38] Chr10:73461907 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1135-15G>T |
single nucleotide variant |
not provided [RCV003110579] |
Chr10:71643846 [GRCh38] Chr10:73403603 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6076A>G (p.Ile2026Val) |
single nucleotide variant |
not provided [RCV003110651] |
Chr10:71791158 [GRCh38] Chr10:73550915 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73499381)_(73862745_?)dup |
duplication |
Sphingolipid activator protein 1 deficiency [RCV003113123] |
Chr10:73499381..73862745 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9733T>C (p.Ser3245Pro) |
single nucleotide variant |
not provided [RCV003115319] |
Chr10:71813343 [GRCh38] Chr10:73573100 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4845+14G>A |
single nucleotide variant |
not provided [RCV003111960] |
Chr10:71741935 [GRCh38] Chr10:73501692 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9198+4C>G |
single nucleotide variant |
not provided [RCV003115989] |
Chr10:71811439 [GRCh38] Chr10:73571196 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9198+13C>A |
single nucleotide variant |
not provided [RCV003118301] |
Chr10:71811448 [GRCh38] Chr10:73571205 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9805C>T (p.Arg3269Cys) |
single nucleotide variant |
not provided [RCV003118189] |
Chr10:71815018 [GRCh38] Chr10:73574775 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5052C>T (p.Arg1684=) |
single nucleotide variant |
not provided [RCV003112788] |
Chr10:71777886 [GRCh38] Chr10:73537643 [GRCh37] Chr10:10q22.1 |
likely benign |
NC_000010.10:g.(?_73450205)_(73450361_?)del |
deletion |
not provided [RCV003111458] |
Chr10:73450205..73450361 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73464658)_(73464897_?)del |
deletion |
not provided [RCV003111459] |
Chr10:73464658..73464897 [GRCh37] Chr10:10q22.1 |
pathogenic |
NC_000010.10:g.(?_73439124)_(73447496_?)del |
deletion |
not provided [RCV003111460] |
Chr10:73439124..73447496 [GRCh37] Chr10:10q22.1 |
pathogenic |
NC_000010.10:g.(?_73269829)_(73337759_?)del |
deletion |
not provided [RCV003111461] |
Chr10:73269829..73337759 [GRCh37] Chr10:10q22.1 |
pathogenic |
NC_000010.10:g.(?_73537936)_(73539214_?)del |
deletion |
not provided [RCV003111462] |
Chr10:73537936..73539214 [GRCh37] Chr10:10q22.1 |
pathogenic |
NC_000010.10:g.(?_73464648)_(73768229_?)dup |
duplication |
not provided [RCV003111464] |
Chr10:73464648..73768229 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5327A>G (p.Asn1776Ser) |
single nucleotide variant |
not provided [RCV003116220] |
Chr10:71779406 [GRCh38] Chr10:73539163 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73537417)_(73551112_?)dup |
duplication |
not provided [RCV003111465] |
Chr10:73537417..73551112 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NC_000010.10:g.(?_73269819)_(73270989_?)dup |
duplication |
not provided [RCV003111466] |
Chr10:73269819..73270989 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NC_000010.10:g.(?_73466676)_(73467843_?)del |
deletion |
not provided [RCV003111467] |
Chr10:73466676..73467843 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2176+3G>A |
single nucleotide variant |
not provided [RCV003121813] |
Chr10:71690587 [GRCh38] Chr10:73450344 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.146-17T>A |
single nucleotide variant |
not provided [RCV003118572] |
Chr10:71510065 [GRCh38] Chr10:73269822 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8308+4G>A |
single nucleotide variant |
not provided [RCV003121358] |
Chr10:71807410 [GRCh38] Chr10:73567167 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7405G>A (p.Asp2469Asn) |
single nucleotide variant |
not provided [RCV003121396] |
Chr10:71800678 [GRCh38] Chr10:73560435 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6748C>G (p.Leu2250Val) |
single nucleotide variant |
not provided [RCV003120445] |
Chr10:71797139 [GRCh38] Chr10:73556896 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4051_4053delinsGAT (p.Asn1351Asp) |
indel |
not provided [RCV003321438] |
Chr10:71732322..71732324 [GRCh38] Chr10:73492079..73492081 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3580-19C>T |
single nucleotide variant |
not provided [RCV003109172] |
Chr10:71730450 [GRCh38] Chr10:73490207 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3950C>T (p.Ser1317Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003291770] |
Chr10:71732221 [GRCh38] Chr10:73491978 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6506A>T (p.Asp2169Val) |
single nucleotide variant |
not provided [RCV003149335] |
Chr10:71793434 [GRCh38] Chr10:73553191 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8136G>T (p.Leu2712=) |
single nucleotide variant |
not provided [RCV003152278] |
Chr10:71806239 [GRCh38] Chr10:73565996 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4244G>A (p.Ser1415Asn) |
single nucleotide variant |
not provided [RCV003237011] |
Chr10:71738532 [GRCh38] Chr10:73498289 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5351T>A (p.Met1784Lys) |
single nucleotide variant |
not provided [RCV002267323] |
Chr10:71779430 [GRCh38] Chr10:73539187 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3608A>G (p.Asp1203Gly) |
single nucleotide variant |
not provided [RCV002275410] |
Chr10:71730497 [GRCh38] Chr10:73490254 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7741G>A (p.Val2581Met) |
single nucleotide variant |
not provided [RCV002275810] |
Chr10:71803289 [GRCh38] Chr10:73563046 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4453del (p.Leu1485fs) |
deletion |
not provided [RCV002275950] |
Chr10:71739734 [GRCh38] Chr10:73499491 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4364T>G (p.Val1455Gly) |
single nucleotide variant |
not specified [RCV002266531] |
Chr10:71739648 [GRCh38] Chr10:73499405 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1024A>G (p.Asn342Asp) |
single nucleotide variant |
not provided [RCV002260872] |
Chr10:71617283 [GRCh38] Chr10:73377040 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3220+1G>A |
single nucleotide variant |
Usher syndrome type 1 [RCV002267650] |
Chr10:71709212 [GRCh38] Chr10:73468969 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.5820+5G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475322]|not provided [RCV002275951] |
Chr10:71785743 [GRCh38] Chr10:73545500 [GRCh37] Chr10:10q22.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.1439T>A (p.Leu480Gln) |
single nucleotide variant |
not specified [RCV002266529] |
Chr10:71646607 [GRCh38] Chr10:73406364 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3029G>A (p.Arg1010His) |
single nucleotide variant |
not provided [RCV003096043]|not specified [RCV002266530] |
Chr10:71706972 [GRCh38] Chr10:73466729 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7001C>T (p.Thr2334Ile) |
single nucleotide variant |
not specified [RCV002266527] |
Chr10:71798525 [GRCh38] Chr10:73558282 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5369-1G>A |
single nucleotide variant |
Usher syndrome type 1 [RCV002267651] |
Chr10:71784286 [GRCh38] Chr10:73544043 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.9374T>C (p.Phe3125Ser) |
single nucleotide variant |
not provided [RCV002288197] |
Chr10:71812009 [GRCh38] Chr10:73571766 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3142C>T (p.Arg1048Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003101512]|not provided [RCV003101511]|not specified [RCV002266528] |
Chr10:71709133 [GRCh38] Chr10:73468890 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4025A>G (p.Asn1342Ser) |
single nucleotide variant |
not provided [RCV002285955] |
Chr10:71732296 [GRCh38] Chr10:73492053 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8208_8209del (p.Val2737fs) |
deletion |
Usher syndrome type 1D [RCV002290403] |
Chr10:71807306..71807307 [GRCh38] Chr10:73567063..73567064 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.9991T>C (p.Ser3331Pro) |
single nucleotide variant |
not provided [RCV002283122] |
Chr10:71815204 [GRCh38] Chr10:73574961 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5247G>T (p.Glu1749Asp) |
single nucleotide variant |
not specified [RCV002283387] |
Chr10:71779326 [GRCh38] Chr10:73539083 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5237_5238delinsAT (p.Arg1746His) |
indel |
not provided [RCV003096361]|not specified [RCV002283394] |
Chr10:71779316..71779317 [GRCh38] Chr10:73539073..73539074 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.553G>A (p.Gly185Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002283694] |
Chr10:71566865 [GRCh38] Chr10:73326622 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5535C>A (p.Asn1845Lys) |
single nucleotide variant |
Usher syndrome [RCV002274223] |
Chr10:71784923 [GRCh38] Chr10:73544680 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2746G>A (p.Asp916Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002292372]|not provided [RCV003101685] |
Chr10:71704923 [GRCh38] Chr10:73464680 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9380+5G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002463826] |
Chr10:71812020 [GRCh38] Chr10:73571777 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4138G>C (p.Glu1380Gln) |
single nucleotide variant |
not provided [RCV002296350] |
Chr10:71734273 [GRCh38] Chr10:73494030 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9381-105C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002283867] |
Chr10:71812375 [GRCh38] Chr10:73572132 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3076del (p.Leu1026fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002283895] |
Chr10:71707018 [GRCh38] Chr10:73466775 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1550T>C (p.Leu517Pro) |
single nucleotide variant |
not provided [RCV002297197] |
Chr10:71677491 [GRCh38] Chr10:73437248 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.115T>G (p.Tyr39Asp) |
single nucleotide variant |
not provided [RCV002297293] |
Chr10:71446365 [GRCh38] Chr10:73206122 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3388G>A (p.Asp1130Asn) |
single nucleotide variant |
not provided [RCV002296912] |
Chr10:71724063 [GRCh38] Chr10:73483820 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7734T>G (p.Ser2578Arg) |
single nucleotide variant |
not provided [RCV002303384] |
Chr10:71803282 [GRCh38] Chr10:73563039 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6191A>G (p.Asp2064Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002467487] |
Chr10:71791273 [GRCh38] Chr10:73551030 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8608G>A (p.Ala2870Thr) |
single nucleotide variant |
not provided [RCV002681887] |
Chr10:71807893 [GRCh38] Chr10:73567650 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8879T>A (p.Val2960Asp) |
single nucleotide variant |
not provided [RCV002303788] |
Chr10:71809976 [GRCh38] Chr10:73569733 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4796T>C (p.Phe1599Ser) |
single nucleotide variant |
not provided [RCV002304138] |
Chr10:71741872 [GRCh38] Chr10:73501629 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1264G>C (p.Glu422Gln) |
single nucleotide variant |
not provided [RCV002304393] |
Chr10:71645954 [GRCh38] Chr10:73405711 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5480G>T (p.Gly1827Val) |
single nucleotide variant |
not provided [RCV002304491] |
Chr10:71784398 [GRCh38] Chr10:73544155 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7513T>C (p.Cys2505Arg) |
single nucleotide variant |
not provided [RCV002298994] |
Chr10:71802928 [GRCh38] Chr10:73562685 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2309A>G (p.Asp770Gly) |
single nucleotide variant |
not provided [RCV002299032] |
Chr10:71695437 [GRCh38] Chr10:73455194 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4277T>A (p.Val1426Asp) |
single nucleotide variant |
not provided [RCV002296146] |
Chr10:71738565 [GRCh38] Chr10:73498322 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8900G>C (p.Arg2967Pro) |
single nucleotide variant |
not provided [RCV002308903] |
Chr10:71809997 [GRCh38] Chr10:73569754 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8595G>T (p.Leu2865Phe) |
single nucleotide variant |
not provided [RCV002295808] |
Chr10:71807880 [GRCh38] Chr10:73567637 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.739G>A (p.Glu247Lys) |
single nucleotide variant |
not specified [RCV002302565] |
Chr10:71570904 [GRCh38] Chr10:73330661 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3362T>A (p.Ile1121Asn) |
single nucleotide variant |
not provided [RCV002302380] |
Chr10:71712806 [GRCh38] Chr10:73472563 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1377C>A (p.Ile459=) |
single nucleotide variant |
not provided [RCV002994895] |
Chr10:71646545 [GRCh38] Chr10:73406302 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9268T>G (p.Tyr3090Asp) |
single nucleotide variant |
not provided [RCV002614463] |
Chr10:71811580 [GRCh38] Chr10:73571337 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8309-3C>A |
single nucleotide variant |
not provided [RCV002858179] |
Chr10:71807513 [GRCh38] Chr10:73567270 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4068C>T (p.Thr1356=) |
single nucleotide variant |
not provided [RCV002971880] |
Chr10:71732339 [GRCh38] Chr10:73492096 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9375T>C (p.Phe3125=) |
single nucleotide variant |
not provided [RCV002881689] |
Chr10:71812010 [GRCh38] Chr10:73571767 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.258G>C (p.Val86=) |
single nucleotide variant |
not provided [RCV003012153] |
Chr10:71510194 [GRCh38] Chr10:73269951 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2057C>A (p.Ala686Glu) |
single nucleotide variant |
not provided [RCV003033029] |
Chr10:71687717 [GRCh38] Chr10:73447474 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4521G>A (p.Arg1507=) |
single nucleotide variant |
not provided [RCV003075199] |
Chr10:71740854 [GRCh38] Chr10:73500611 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7070A>G (p.Asn2357Ser) |
single nucleotide variant |
not provided [RCV002685716] |
Chr10:71799126 [GRCh38] Chr10:73558883 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3502C>T (p.Arg1168Trp) |
single nucleotide variant |
not provided [RCV002967766] |
Chr10:71725443 [GRCh38] Chr10:73485200 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4584G>A (p.Glu1528=) |
single nucleotide variant |
not provided [RCV002862476] |
Chr10:71740917 [GRCh38] Chr10:73500674 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6249G>C (p.Pro2083=) |
single nucleotide variant |
not provided [RCV002994376] |
Chr10:71791331 [GRCh38] Chr10:73551088 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3189A>G (p.Thr1063=) |
single nucleotide variant |
not provided [RCV002837915] |
Chr10:71709180 [GRCh38] Chr10:73468937 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6830-8C>T |
single nucleotide variant |
not provided [RCV002775129] |
Chr10:71798346 [GRCh38] Chr10:73558103 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1831G>A (p.Asp611Asn) |
single nucleotide variant |
not provided [RCV002995769] |
Chr10:71679465 [GRCh38] Chr10:73439222 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2192C>T (p.Thr731Met) |
single nucleotide variant |
not provided [RCV003074151] |
Chr10:71694162 [GRCh38] Chr10:73453919 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7062C>G (p.Val2354=) |
single nucleotide variant |
not provided [RCV002838600] |
Chr10:71799118 [GRCh38] Chr10:73558875 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9077+14T>C |
single nucleotide variant |
not provided [RCV002751334] |
Chr10:71810583 [GRCh38] Chr10:73570340 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8416T>A (p.Ser2806Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002859231] |
Chr10:71807623 [GRCh38] Chr10:73567380 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4512C>T (p.Thr1504=) |
single nucleotide variant |
not provided [RCV002815305] |
Chr10:71740845 [GRCh38] Chr10:73500602 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9195G>A (p.Leu3065=) |
single nucleotide variant |
not provided [RCV002861381] |
Chr10:71811432 [GRCh38] Chr10:73571189 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1515G>A (p.Arg505=) |
single nucleotide variant |
not provided [RCV002511634] |
Chr10:71677456 [GRCh38] Chr10:73437213 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9353C>T (p.Pro3118Leu) |
single nucleotide variant |
not provided [RCV002685949] |
Chr10:71811988 [GRCh38] Chr10:73571745 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9012del (p.Phe3004fs) |
deletion |
not provided [RCV002880460] |
Chr10:71810502 [GRCh38] Chr10:73570259 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2143G>T (p.Gly715Cys) |
single nucleotide variant |
not provided [RCV003074731] |
Chr10:71690551 [GRCh38] Chr10:73450308 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5854G>A (p.Glu1952Lys) |
single nucleotide variant |
not provided [RCV002614519] |
Chr10:71788973 [GRCh38] Chr10:73548730 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1987-7C>T |
single nucleotide variant |
not provided [RCV002904114] |
Chr10:71687640 [GRCh38] Chr10:73447397 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.113C>T (p.Thr38Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002816982] |
Chr10:71446363 [GRCh38] Chr10:73206120 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.288+4T>A |
single nucleotide variant |
not provided [RCV002756671] |
Chr10:71510228 [GRCh38] Chr10:73269985 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6571_6593del (p.Thr2191fs) |
deletion |
Sensorineural hearing loss disorder [RCV002509884] |
Chr10:71793496..71793518 [GRCh38] Chr10:73553253..73553275 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8793C>T (p.Asp2931=) |
single nucleotide variant |
not provided [RCV002862394] |
Chr10:71809890 [GRCh38] Chr10:73569647 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5515A>T (p.Ile1839Phe) |
single nucleotide variant |
not provided [RCV003015611] |
Chr10:71784903 [GRCh38] Chr10:73544660 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7371C>T (p.Ile2457=) |
single nucleotide variant |
not provided [RCV002843537] |
Chr10:71800644 [GRCh38] Chr10:73560401 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9974G>A (p.Arg3325His) |
single nucleotide variant |
not provided [RCV003077104] |
Chr10:71815187 [GRCh38] Chr10:73574944 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9320-20C>T |
single nucleotide variant |
not provided [RCV002771390] |
Chr10:71811935 [GRCh38] Chr10:73571692 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2540C>A (p.Pro847His) |
single nucleotide variant |
not provided [RCV002842707] |
Chr10:71702164 [GRCh38] Chr10:73461921 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3193G>A (p.Ala1065Thr) |
single nucleotide variant |
not provided [RCV003077074] |
Chr10:71709184 [GRCh38] Chr10:73468941 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8813C>A (p.Ala2938Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002732240] |
Chr10:71809910 [GRCh38] Chr10:73569667 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9076C>T (p.Arg3026Trp) |
single nucleotide variant |
not provided [RCV002613899] |
Chr10:71810568 [GRCh38] Chr10:73570325 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1963G>T (p.Val655Phe) |
single nucleotide variant |
not provided [RCV002904404] |
Chr10:71682549 [GRCh38] Chr10:73442306 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5078C>G (p.Thr1693Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003269355]|not provided [RCV002971219] |
Chr10:71778199 [GRCh38] Chr10:73537956 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4226T>C (p.Leu1409Pro) |
single nucleotide variant |
not provided [RCV002908396] |
Chr10:71738514 [GRCh38] Chr10:73498271 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.766C>A (p.Arg256Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003060716]|not provided [RCV003077006] |
Chr10:71577926 [GRCh38] Chr10:73337683 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3220+16G>A |
single nucleotide variant |
not provided [RCV002780067] |
Chr10:71709227 [GRCh38] Chr10:73468984 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7972A>C (p.Asn2658His) |
single nucleotide variant |
Inborn genetic diseases [RCV002971240]|not provided [RCV002971241] |
Chr10:71805905 [GRCh38] Chr10:73565662 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7068C>T (p.Ala2356=) |
single nucleotide variant |
not provided [RCV002907952] |
Chr10:71799124 [GRCh38] Chr10:73558881 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9825G>A (p.Glu3275=) |
single nucleotide variant |
not provided [RCV003034793] |
Chr10:71815038 [GRCh38] Chr10:73574795 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7051G>T (p.Ala2351Ser) |
single nucleotide variant |
not provided [RCV002756717] |
Chr10:71798575 [GRCh38] Chr10:73558332 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7919A>G (p.Lys2640Arg) |
single nucleotide variant |
not provided [RCV003017775] |
Chr10:71805852 [GRCh38] Chr10:73565609 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.444G>T (p.Gly148=) |
single nucleotide variant |
not provided [RCV003012284] |
Chr10:71566756 [GRCh38] Chr10:73326513 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1393T>A (p.Tyr465Asn) |
single nucleotide variant |
not provided [RCV002775203] |
Chr10:71646561 [GRCh38] Chr10:73406318 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1392G>A (p.Leu464=) |
single nucleotide variant |
not provided [RCV002618159] |
Chr10:71646560 [GRCh38] Chr10:73406317 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8238C>T (p.Leu2746=) |
single nucleotide variant |
not provided [RCV002996850] |
Chr10:71807336 [GRCh38] Chr10:73567093 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6526_6557dup (p.Ser2186_Ala2187insThrProSerArgGlnTer) |
duplication |
not provided [RCV002880871] |
Chr10:71793451..71793452 [GRCh38] Chr10:73553208..73553209 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.6942del (p.Leu2315fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003475443]|not provided [RCV002863225] |
Chr10:71798466 [GRCh38] Chr10:73558223 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.117C>T (p.Tyr39=) |
single nucleotide variant |
not provided [RCV002819495] |
Chr10:71446367 [GRCh38] Chr10:73206124 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1659T>C (p.Asp553=) |
single nucleotide variant |
not provided [RCV003017741] |
Chr10:71677600 [GRCh38] Chr10:73437357 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5675C>G (p.Ala1892Gly) |
single nucleotide variant |
not provided [RCV003075138] |
Chr10:71785063 [GRCh38] Chr10:73544820 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4761A>G (p.Thr1587=) |
single nucleotide variant |
not provided [RCV002996756] |
Chr10:71741837 [GRCh38] Chr10:73501594 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5013C>T (p.Thr1671=) |
single nucleotide variant |
not provided [RCV002843893] |
Chr10:71777847 [GRCh38] Chr10:73537604 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.255C>A (p.Gly85=) |
single nucleotide variant |
not provided [RCV002730330] |
Chr10:71510191 [GRCh38] Chr10:73269948 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5187+10T>A |
single nucleotide variant |
not provided [RCV002995074] |
Chr10:71778318 [GRCh38] Chr10:73538075 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4406T>C (p.Ile1469Thr) |
single nucleotide variant |
not provided [RCV003015956] |
Chr10:71739690 [GRCh38] Chr10:73499447 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4453dup (p.Leu1485fs) |
duplication |
not provided [RCV003035053] |
Chr10:71739733..71739734 [GRCh38] Chr10:73499490..73499491 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1945C>G (p.Pro649Ala) |
single nucleotide variant |
not provided [RCV002726243] |
Chr10:71682531 [GRCh38] Chr10:73442288 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3114C>T (p.Asn1038=) |
single nucleotide variant |
not provided [RCV002996813] |
Chr10:71709105 [GRCh38] Chr10:73468862 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1986T>G (p.Phe662Leu) |
single nucleotide variant |
not provided [RCV002842751] |
Chr10:71682572 [GRCh38] Chr10:73442329 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6802C>T (p.Pro2268Ser) |
single nucleotide variant |
not provided [RCV002775552] |
Chr10:71797193 [GRCh38] Chr10:73556950 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7705C>T (p.Arg2569Trp) |
single nucleotide variant |
not provided [RCV002734776] |
Chr10:71803253 [GRCh38] Chr10:73563010 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8535C>T (p.Arg2845=) |
single nucleotide variant |
not provided [RCV002862817] |
Chr10:71807742 [GRCh38] Chr10:73567499 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8239G>A (p.Val2747Met) |
single nucleotide variant |
not provided [RCV003076179] |
Chr10:71807337 [GRCh38] Chr10:73567094 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5986G>A (p.Ala1996Thr) |
single nucleotide variant |
not provided [RCV002508476] |
Chr10:71790350 [GRCh38] Chr10:73550107 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.430-11C>G |
single nucleotide variant |
not provided [RCV003074794] |
Chr10:71566731 [GRCh38] Chr10:73326488 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6712+2T>C |
single nucleotide variant |
not provided [RCV002858224] |
Chr10:71793642 [GRCh38] Chr10:73553399 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6219C>A (p.Thr2073=) |
single nucleotide variant |
not provided [RCV002880473] |
Chr10:71791301 [GRCh38] Chr10:73551058 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5000A>G (p.Asn1667Ser) |
single nucleotide variant |
not provided [RCV002616886] |
Chr10:71777834 [GRCh38] Chr10:73537591 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.288+2T>C |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475464]|not provided [RCV003015898] |
Chr10:71510226 [GRCh38] Chr10:73269983 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.336+17G>A |
single nucleotide variant |
not provided [RCV002730704] |
Chr10:71511018 [GRCh38] Chr10:73270775 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5053A>G (p.Ile1685Val) |
single nucleotide variant |
not provided [RCV003075221] |
Chr10:71777887 [GRCh38] Chr10:73537644 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2267A>C (p.Asn756Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002772779] |
Chr10:71694237 [GRCh38] Chr10:73453994 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.240G>A (p.Val80=) |
single nucleotide variant |
not provided [RCV003074073] |
Chr10:71510176 [GRCh38] Chr10:73269933 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.1291-13T>C |
single nucleotide variant |
not provided [RCV002685968] |
Chr10:71646446 [GRCh38] Chr10:73406203 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5736del (p.Leu1914fs) |
deletion |
not provided [RCV002971486] |
Chr10:71785653 [GRCh38] Chr10:73545410 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1821C>T (p.Gly607=) |
single nucleotide variant |
not provided [RCV002882055] |
Chr10:71679455 [GRCh38] Chr10:73439212 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7238A>G (p.Glu2413Gly) |
single nucleotide variant |
not provided [RCV002991347] |
Chr10:71799505 [GRCh38] Chr10:73559262 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5187+8C>T |
single nucleotide variant |
not provided [RCV002815456] |
Chr10:71778316 [GRCh38] Chr10:73538073 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9672G>A (p.Arg3224=) |
single nucleotide variant |
not provided [RCV002861540] |
Chr10:71813282 [GRCh38] Chr10:73573039 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7404G>A (p.Lys2468=) |
single nucleotide variant |
not provided [RCV002861566] |
Chr10:71800677 [GRCh38] Chr10:73560434 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1637G>T (p.Arg546Leu) |
single nucleotide variant |
not provided [RCV003073815] |
Chr10:71677578 [GRCh38] Chr10:73437335 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9465C>T (p.Asn3155=) |
single nucleotide variant |
not provided [RCV003013631] |
Chr10:71812564 [GRCh38] Chr10:73572321 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2949C>T (p.Ile983=) |
single nucleotide variant |
not provided [RCV003033957] |
Chr10:71705126 [GRCh38] Chr10:73464883 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8368G>A (p.Asp2790Asn) |
single nucleotide variant |
not provided [RCV003073878] |
Chr10:71807575 [GRCh38] Chr10:73567332 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3106+16C>G |
single nucleotide variant |
not provided [RCV003013657] |
Chr10:71707065 [GRCh38] Chr10:73466822 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5018C>T (p.Ala1673Val) |
single nucleotide variant |
not provided [RCV003074734] |
Chr10:71777852 [GRCh38] Chr10:73537609 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9837C>G (p.Pro3279=) |
single nucleotide variant |
not provided [RCV002862933] |
Chr10:71815050 [GRCh38] Chr10:73574807 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7590C>A (p.Thr2530=) |
single nucleotide variant |
not provided [RCV002858695] |
Chr10:71803005 [GRCh38] Chr10:73562762 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5368+2T>C |
single nucleotide variant |
not provided [RCV002857931] |
Chr10:71779449 [GRCh38] Chr10:73539206 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.370del (p.Asp124fs) |
deletion |
not provided [RCV003013378] |
Chr10:71511150 [GRCh38] Chr10:73270907 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3427C>T (p.His1143Tyr) |
single nucleotide variant |
not provided [RCV003033839] |
Chr10:71724102 [GRCh38] Chr10:73483859 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5891dup (p.Tyr1964Ter) |
duplication |
not provided [RCV002861885] |
Chr10:71789009..71789010 [GRCh38] Chr10:73548766..73548767 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4450C>A (p.Pro1484Thr) |
single nucleotide variant |
not provided [RCV002613533] |
Chr10:71739734 [GRCh38] Chr10:73499491 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7416C>A (p.Ile2472=) |
single nucleotide variant |
not provided [RCV002880886] |
Chr10:71800689 [GRCh38] Chr10:73560446 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.915G>A (p.Leu305=) |
single nucleotide variant |
not provided [RCV002903594] |
Chr10:71615586 [GRCh38] Chr10:73375343 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4767T>A (p.Pro1589=) |
single nucleotide variant |
not provided [RCV002861789] |
Chr10:71741843 [GRCh38] Chr10:73501600 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7293A>T (p.Ser2431=) |
single nucleotide variant |
not provided [RCV002613607] |
Chr10:71799560 [GRCh38] Chr10:73559317 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6445C>G (p.Arg2149Gly) |
single nucleotide variant |
not provided [RCV003034045] |
Chr10:71793373 [GRCh38] Chr10:73553130 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1749C>T (p.Leu583=) |
single nucleotide variant |
not provided [RCV002690182] |
Chr10:71677690 [GRCh38] Chr10:73437447 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6124C>T (p.Leu2042=) |
single nucleotide variant |
not provided [RCV003034384] |
Chr10:71791206 [GRCh38] Chr10:73550963 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.213G>T (p.Gly71=) |
single nucleotide variant |
not provided [RCV002837913] |
Chr10:71510149 [GRCh38] Chr10:73269906 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.571C>T (p.Arg191Trp) |
single nucleotide variant |
not provided [RCV003076008] |
Chr10:71566883 [GRCh38] Chr10:73326640 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5690G>A (p.Arg1897Gln) |
single nucleotide variant |
not provided [RCV002616498] |
Chr10:71785078 [GRCh38] Chr10:73544835 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7872+8T>A |
single nucleotide variant |
not provided [RCV003075873] |
Chr10:71803428 [GRCh38] Chr10:73563185 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3451C>T (p.Arg1151Trp) |
single nucleotide variant |
not provided [RCV003076372] |
Chr10:71725392 [GRCh38] Chr10:73485149 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8353C>T (p.Leu2785=) |
single nucleotide variant |
not provided [RCV003034744] |
Chr10:71807560 [GRCh38] Chr10:73567317 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2060-6del |
deletion |
not provided [RCV003034745] |
Chr10:71690458 [GRCh38] Chr10:73450215 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.7654G>A (p.Gly2552Ser) |
single nucleotide variant |
not provided [RCV002461733] |
Chr10:71803069 [GRCh38] Chr10:73562826 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6929C>T (p.Thr2310Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003073645]|not provided [RCV003066796] |
Chr10:71798453 [GRCh38] Chr10:73558210 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3418C>T (p.Arg1140Cys) |
single nucleotide variant |
not provided [RCV002996492] |
Chr10:71724093 [GRCh38] Chr10:73483850 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2328del (p.Thr777fs) |
deletion |
not provided [RCV002838109] |
Chr10:71695453 [GRCh38] Chr10:73455210 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1859-7A>G |
single nucleotide variant |
not provided [RCV003033929] |
Chr10:71682438 [GRCh38] Chr10:73442195 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9170G>T (p.Arg3057Leu) |
single nucleotide variant |
not provided [RCV002843580] |
Chr10:71811407 [GRCh38] Chr10:73571164 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5820+13G>A |
single nucleotide variant |
not provided [RCV003073772] |
Chr10:71785751 [GRCh38] Chr10:73545508 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4204G>A (p.Val1402Met) |
single nucleotide variant |
not provided [RCV003075278] |
Chr10:71734339 [GRCh38] Chr10:73494096 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4907A>T (p.Gln1636Leu) |
single nucleotide variant |
not provided [RCV003097640] |
Chr10:71777741 [GRCh38] Chr10:73537498 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1752+16G>A |
single nucleotide variant |
not provided [RCV003017285] |
Chr10:71677709 [GRCh38] Chr10:73437466 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8078C>T (p.Ala2693Val) |
single nucleotide variant |
not provided [RCV002996200] |
Chr10:71806181 [GRCh38] Chr10:73565938 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2801C>T (p.Pro934Leu) |
single nucleotide variant |
not provided [RCV002618000] |
Chr10:71704978 [GRCh38] Chr10:73464735 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6050-18G>A |
single nucleotide variant |
not provided [RCV002613663] |
Chr10:71791114 [GRCh38] Chr10:73550871 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4881G>C (p.Glu1627Asp) |
single nucleotide variant |
not provided [RCV002996739] |
Chr10:71777715 [GRCh38] Chr10:73537472 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5015A>G (p.Tyr1672Cys) |
single nucleotide variant |
not provided [RCV003017008] |
Chr10:71777849 [GRCh38] Chr10:73537606 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1179C>A (p.Asn393Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002793677] |
Chr10:71645869 [GRCh38] Chr10:73405626 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7759G>A (p.Gly2587Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002779781] |
Chr10:71803307 [GRCh38] Chr10:73563064 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1842G>C (p.Leu614=) |
single nucleotide variant |
not provided [RCV003017491] |
Chr10:71679476 [GRCh38] Chr10:73439233 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5532C>A (p.Ile1844=) |
single nucleotide variant |
not provided [RCV003016582] |
Chr10:71784920 [GRCh38] Chr10:73544677 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3003T>C (p.Asn1001=) |
single nucleotide variant |
not provided [RCV002908058] |
Chr10:71706946 [GRCh38] Chr10:73466703 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8722+17C>T |
single nucleotide variant |
not provided [RCV003017064] |
Chr10:71808024 [GRCh38] Chr10:73567781 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4419T>C (p.Asn1473=) |
single nucleotide variant |
not provided [RCV002861580] |
Chr10:71739703 [GRCh38] Chr10:73499460 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6928A>G (p.Thr2310Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002689721]|not provided [RCV003111758] |
Chr10:71798452 [GRCh38] Chr10:73558209 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9510+11G>A |
single nucleotide variant |
not provided [RCV002996734] |
Chr10:71812620 [GRCh38] Chr10:73572377 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.833-3C>G |
single nucleotide variant |
not provided [RCV002819370] |
Chr10:71615501 [GRCh38] Chr10:73375258 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8804G>A (p.Arg2935Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003076441]|not provided [RCV003051219] |
Chr10:71809901 [GRCh38] Chr10:73569658 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.420C>T (p.Arg140=) |
single nucleotide variant |
not provided [RCV002858380] |
Chr10:71511203 [GRCh38] Chr10:73270960 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8510A>C (p.Glu2837Ala) |
single nucleotide variant |
not provided [RCV003095402] |
Chr10:71807717 [GRCh38] Chr10:73567474 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4652G>A (p.Arg1551Lys) |
single nucleotide variant |
not provided [RCV002907814] |
Chr10:71741728 [GRCh38] Chr10:73501485 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.723C>T (p.Tyr241=) |
single nucleotide variant |
not provided [RCV002863680] |
Chr10:71570888 [GRCh38] Chr10:73330645 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8300T>A (p.Phe2767Tyr) |
single nucleotide variant |
not provided [RCV002755779] |
Chr10:71807398 [GRCh38] Chr10:73567155 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9656T>C (p.Leu3219Pro) |
single nucleotide variant |
not provided [RCV002756301] |
Chr10:71813266 [GRCh38] Chr10:73573023 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4489-19G>A |
single nucleotide variant |
not provided [RCV002756978] |
Chr10:71740803 [GRCh38] Chr10:73500560 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7698C>T (p.Thr2566=) |
single nucleotide variant |
not provided [RCV003035545] |
Chr10:71803246 [GRCh38] Chr10:73563003 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6041G>A (p.Ser2014Asn) |
single nucleotide variant |
not provided [RCV003055492] |
Chr10:71790405 [GRCh38] Chr10:73550162 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6253+2T>C |
single nucleotide variant |
not provided [RCV003039261] |
Chr10:71791337 [GRCh38] Chr10:73551094 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8610C>G (p.Ala2870=) |
single nucleotide variant |
not provided [RCV002979681] |
Chr10:71807895 [GRCh38] Chr10:73567652 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6486T>C (p.Ile2162=) |
single nucleotide variant |
not provided [RCV002953534] |
Chr10:71793414 [GRCh38] Chr10:73553171 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6450C>T (p.Gly2150=) |
single nucleotide variant |
not provided [RCV003081598] |
Chr10:71793378 [GRCh38] Chr10:73553135 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9228G>C (p.Leu3076=) |
single nucleotide variant |
not provided [RCV003021997] |
Chr10:71811540 [GRCh38] Chr10:73571297 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6552G>A (p.Leu2184=) |
single nucleotide variant |
not provided [RCV003021400] |
Chr10:71793480 [GRCh38] Chr10:73553237 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3579+14C>T |
single nucleotide variant |
not provided [RCV002786106] |
Chr10:71725534 [GRCh38] Chr10:73485291 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5610C>G (p.Val1870=) |
single nucleotide variant |
not provided [RCV002848385] |
Chr10:71784998 [GRCh38] Chr10:73544755 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9306G>T (p.Val3102=) |
single nucleotide variant |
not provided [RCV002953053] |
Chr10:71811740 [GRCh38] Chr10:73571497 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7059G>T (p.Lys2353Asn) |
single nucleotide variant |
not provided [RCV002662946] |
Chr10:71799115 [GRCh38] Chr10:73558872 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.401A>G (p.Asn134Ser) |
single nucleotide variant |
not provided [RCV003003081] |
Chr10:71511184 [GRCh38] Chr10:73270941 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6475A>G (p.Ile2159Val) |
single nucleotide variant |
not provided [RCV002592078] |
Chr10:71793403 [GRCh38] Chr10:73553160 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2176+18A>C |
single nucleotide variant |
not provided [RCV002786126] |
Chr10:71690602 [GRCh38] Chr10:73450359 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5502A>G (p.Thr1834=) |
single nucleotide variant |
not provided [RCV002914272] |
Chr10:71784420 [GRCh38] Chr10:73544177 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4489-7C>T |
single nucleotide variant |
not provided [RCV002825413] |
Chr10:71740815 [GRCh38] Chr10:73500572 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.307G>A (p.Val103Met) |
single nucleotide variant |
not provided [RCV003077710] |
Chr10:71510972 [GRCh38] Chr10:73270729 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8del (p.Arg3fs) |
deletion |
not provided [RCV003039516] |
Chr10:71439839 [GRCh38] Chr10:73199596 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1368C>T (p.Asn456=) |
single nucleotide variant |
not provided [RCV003039088] |
Chr10:71646536 [GRCh38] Chr10:73406293 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4959C>T (p.Ser1653=) |
single nucleotide variant |
not provided [RCV002571650] |
Chr10:71777793 [GRCh38] Chr10:73537550 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6690C>T (p.Ala2230=) |
single nucleotide variant |
not provided [RCV002706581] |
Chr10:71793618 [GRCh38] Chr10:73553375 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7516C>T (p.Arg2506Trp) |
single nucleotide variant |
not provided [RCV002953572] |
Chr10:71802931 [GRCh38] Chr10:73562688 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6867del (p.Asn2289fs) |
deletion |
not provided [RCV003022017] |
Chr10:71798391 [GRCh38] Chr10:73558148 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3171C>T (p.Gly1057=) |
single nucleotide variant |
not provided [RCV003003152] |
Chr10:71709162 [GRCh38] Chr10:73468919 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6712+8G>A |
single nucleotide variant |
not provided [RCV002912803] |
Chr10:71793648 [GRCh38] Chr10:73553405 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1465G>A (p.Ala489Thr) |
single nucleotide variant |
not provided [RCV002823971] |
Chr10:71675127 [GRCh38] Chr10:73434884 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8901T>A (p.Arg2967=) |
single nucleotide variant |
not provided [RCV002786036] |
Chr10:71809998 [GRCh38] Chr10:73569755 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9488G>A (p.Trp3163Ter) |
single nucleotide variant |
not provided [RCV002953360] |
Chr10:71812587 [GRCh38] Chr10:73572344 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2755G>T (p.Glu919Ter) |
single nucleotide variant |
not provided [RCV003055559] |
Chr10:71704932 [GRCh38] Chr10:73464689 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2996T>C (p.Val999Ala) |
single nucleotide variant |
not provided [RCV003081761] |
Chr10:71706939 [GRCh38] Chr10:73466696 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9540C>G (p.Val3180=) |
single nucleotide variant |
not provided [RCV002623039] |
Chr10:71812797 [GRCh38] Chr10:73572554 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1514+11G>T |
single nucleotide variant |
not provided [RCV002640473] |
Chr10:71675187 [GRCh38] Chr10:73434944 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2953+11G>T |
single nucleotide variant |
not provided [RCV002640478] |
Chr10:71705141 [GRCh38] Chr10:73464898 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1450G>A (p.Ala484Thr) |
single nucleotide variant |
not provided [RCV002639625] |
Chr10:71675112 [GRCh38] Chr10:73434869 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7363-22_7363-12del |
deletion |
not provided [RCV003002969] |
Chr10:71800611..71800621 [GRCh38] Chr10:73560368..73560378 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9576C>A (p.Ile3192=) |
single nucleotide variant |
not provided [RCV003039200] |
Chr10:71812833 [GRCh38] Chr10:73572590 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4682G>C (p.Ser1561Thr) |
single nucleotide variant |
not provided [RCV002800499] |
Chr10:71741758 [GRCh38] Chr10:73501515 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9380+17C>A |
single nucleotide variant |
not provided [RCV002824718] |
Chr10:71812032 [GRCh38] Chr10:73571789 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7873-17C>T |
single nucleotide variant |
not provided [RCV003020581] |
Chr10:71805789 [GRCh38] Chr10:73565546 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6168C>G (p.Leu2056=) |
single nucleotide variant |
not provided [RCV003003145] |
Chr10:71791250 [GRCh38] Chr10:73551007 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3059C>T (p.Thr1020Met) |
single nucleotide variant |
not provided [RCV003080793] |
Chr10:71707002 [GRCh38] Chr10:73466759 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8489_8490delinsCC (p.Gln2830Pro) |
indel |
not provided [RCV002695958] |
Chr10:71807696..71807697 [GRCh38] Chr10:73567453..73567454 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9655C>T (p.Leu3219=) |
single nucleotide variant |
not provided [RCV003081293] |
Chr10:71813265 [GRCh38] Chr10:73573022 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.768C>T (p.Arg256=) |
single nucleotide variant |
not provided [RCV002761595] |
Chr10:71577928 [GRCh38] Chr10:73337685 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4309_4310delinsAA (p.Arg1437Lys) |
indel |
not provided [RCV002780400] |
Chr10:71738597..71738598 [GRCh38] Chr10:73498354..73498355 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7483-6A>G |
single nucleotide variant |
not provided [RCV002590694] |
Chr10:71802892 [GRCh38] Chr10:73562649 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5885G>T (p.Ser1962Ile) |
single nucleotide variant |
not provided [RCV003053892] |
Chr10:71789004 [GRCh38] Chr10:73548761 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6631A>G (p.Ile2211Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002710759]|not provided [RCV002735231] |
Chr10:71793559 [GRCh38] Chr10:73553316 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6920A>G (p.Glu2307Gly) |
single nucleotide variant |
not provided [RCV003078192] |
Chr10:71798444 [GRCh38] Chr10:73558201 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3090del (p.Ser1031fs) |
deletion |
not provided [RCV002820677] |
Chr10:71707033 [GRCh38] Chr10:73466790 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2295C>T (p.Asn765=) |
single nucleotide variant |
not provided [RCV002847665] |
Chr10:71695423 [GRCh38] Chr10:73455180 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8285C>T (p.Ala2762Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003078637]|not provided [RCV003078636] |
Chr10:71807383 [GRCh38] Chr10:73567140 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4571C>G (p.Pro1524Arg) |
single nucleotide variant |
not provided [RCV002590884] |
Chr10:71740904 [GRCh38] Chr10:73500661 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6289G>A (p.Asp2097Asn) |
single nucleotide variant |
not provided [RCV002948707] |
Chr10:71793217 [GRCh38] Chr10:73552974 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7558G>A (p.Glu2520Lys) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475515]|not provided [RCV002620854] |
Chr10:71802973 [GRCh38] Chr10:73562730 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6137T>A (p.Ile2046Asn) |
single nucleotide variant |
not provided [RCV003054220] |
Chr10:71791219 [GRCh38] Chr10:73550976 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8575G>A (p.Ala2859Thr) |
single nucleotide variant |
not provided [RCV002636677] |
Chr10:71807860 [GRCh38] Chr10:73567617 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2385T>G (p.Ser795=) |
single nucleotide variant |
not provided [RCV002760732] |
Chr10:71695513 [GRCh38] Chr10:73455270 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1025A>G (p.Asn342Ser) |
single nucleotide variant |
not provided [RCV003037344] |
Chr10:71617284 [GRCh38] Chr10:73377041 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8230G>A (p.Gly2744Ser) |
single nucleotide variant |
not provided [RCV003037346] |
Chr10:71807328 [GRCh38] Chr10:73567085 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.336+12C>T |
single nucleotide variant |
not provided [RCV002847296] |
Chr10:71511013 [GRCh38] Chr10:73270770 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8670C>T (p.Tyr2890=) |
single nucleotide variant |
not provided [RCV002866667] |
Chr10:71807955 [GRCh38] Chr10:73567712 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8866C>T (p.Arg2956Cys) |
single nucleotide variant |
not provided [RCV003037348] |
Chr10:71809963 [GRCh38] Chr10:73569720 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9669G>A (p.Leu3223=) |
single nucleotide variant |
not provided [RCV003020122] |
Chr10:71813279 [GRCh38] Chr10:73573036 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9511-10C>T |
single nucleotide variant |
not provided [RCV003035907] |
Chr10:71812758 [GRCh38] Chr10:73572515 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9441G>C (p.Glu3147Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002758185] |
Chr10:71812540 [GRCh38] Chr10:73572297 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2036C>A (p.Ser679Tyr) |
single nucleotide variant |
not provided [RCV002620242] |
Chr10:71687696 [GRCh38] Chr10:73447453 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9929G>A (p.Arg3310His) |
single nucleotide variant |
Inborn genetic diseases [RCV003250816]|not provided [RCV002638063] |
Chr10:71815142 [GRCh38] Chr10:73574899 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5498C>G (p.Ser1833Cys) |
single nucleotide variant |
not provided [RCV002824152] |
Chr10:71784416 [GRCh38] Chr10:73544173 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2539C>T (p.Pro847Ser) |
single nucleotide variant |
not provided [RCV002619616] |
Chr10:71702163 [GRCh38] Chr10:73461920 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.336+1del |
deletion |
not provided [RCV002510062] |
Chr10:71510998 [GRCh38] Chr10:73270755 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4488+11G>A |
single nucleotide variant |
not provided [RCV002736434] |
Chr10:71739783 [GRCh38] Chr10:73499540 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8099T>C (p.Val2700Ala) |
single nucleotide variant |
not provided [RCV002705788] |
Chr10:71806202 [GRCh38] Chr10:73565959 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.200T>G (p.Phe67Cys) |
single nucleotide variant |
not provided [RCV003054129] |
Chr10:71510136 [GRCh38] Chr10:73269893 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6590C>T (p.Thr2197Met) |
single nucleotide variant |
not provided [RCV002591687] |
Chr10:71793518 [GRCh38] Chr10:73553275 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6725T>C (p.Val2242Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002798170] |
Chr10:71797116 [GRCh38] Chr10:73556873 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.211G>T (p.Gly71Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002912313] |
Chr10:71510147 [GRCh38] Chr10:73269904 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4872T>A (p.Ile1624=) |
single nucleotide variant |
not provided [RCV002734930] |
Chr10:71777706 [GRCh38] Chr10:73537463 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8004A>G (p.Pro2668=) |
single nucleotide variant |
not provided [RCV002976476] |
Chr10:71805937 [GRCh38] Chr10:73565694 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5289G>T (p.Val1763=) |
single nucleotide variant |
not provided [RCV003019196] |
Chr10:71779368 [GRCh38] Chr10:73539125 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3690G>A (p.Val1230=) |
single nucleotide variant |
not provided [RCV003019558] |
Chr10:71730579 [GRCh38] Chr10:73490336 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2454G>A (p.Gln818=) |
single nucleotide variant |
not provided [RCV003018570] |
Chr10:71702078 [GRCh38] Chr10:73461835 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8117A>T (p.Gln2706Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002884208] |
Chr10:71806220 [GRCh38] Chr10:73565977 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3534G>A (p.Val1178=) |
single nucleotide variant |
not provided [RCV003035305] |
Chr10:71725475 [GRCh38] Chr10:73485232 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2199G>C (p.Leu733=) |
single nucleotide variant |
not provided [RCV002866552] |
Chr10:71694169 [GRCh38] Chr10:73453926 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.337-16G>T |
single nucleotide variant |
not provided [RCV002976459] |
Chr10:71511104 [GRCh38] Chr10:73270861 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.489A>T (p.Ala163=) |
single nucleotide variant |
not provided [RCV003019563] |
Chr10:71566801 [GRCh38] Chr10:73326558 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2864G>T (p.Arg955Leu) |
single nucleotide variant |
Usher syndrome type 1D [RCV002761618]|not provided [RCV002780339] |
Chr10:71705041 [GRCh38] Chr10:73464798 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4522AAG[1] (p.Lys1509del) |
microsatellite |
not provided [RCV003036524] |
Chr10:71740854..71740856 [GRCh38] Chr10:73500611..73500613 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5734C>A (p.Arg1912=) |
single nucleotide variant |
not provided [RCV002885278] |
Chr10:71785652 [GRCh38] Chr10:73545409 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5285G>A (p.Arg1762Lys) |
single nucleotide variant |
not provided [RCV002705990] |
Chr10:71779364 [GRCh38] Chr10:73539121 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8722+19T>C |
single nucleotide variant |
not provided [RCV002662395] |
Chr10:71808026 [GRCh38] Chr10:73567783 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6532A>T (p.Ile2178Phe) |
single nucleotide variant |
not provided [RCV003077268] |
Chr10:71793460 [GRCh38] Chr10:73553217 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4109T>C (p.Val1370Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002887837] |
Chr10:71734244 [GRCh38] Chr10:73494001 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6657C>T (p.Asp2219=) |
single nucleotide variant |
not provided [RCV003021332] |
Chr10:71793585 [GRCh38] Chr10:73553342 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6829+9C>T |
single nucleotide variant |
not provided [RCV003017924] |
Chr10:71797229 [GRCh38] Chr10:73556986 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8664C>T (p.Ile2888=) |
single nucleotide variant |
not provided [RCV003054023] |
Chr10:71807949 [GRCh38] Chr10:73567706 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7975del (p.Arg2659fs) |
deletion |
not provided [RCV002885366] |
Chr10:71805907 [GRCh38] Chr10:73565664 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4137T>A (p.Arg1379=) |
single nucleotide variant |
not provided [RCV002658918] |
Chr10:71734272 [GRCh38] Chr10:73494029 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8521G>A (p.Asp2841Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002949779] |
Chr10:71807728 [GRCh38] Chr10:73567485 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6840del (p.Val2281fs) |
deletion |
not provided [RCV002760865] |
Chr10:71798364 [GRCh38] Chr10:73558121 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7660+9C>A |
single nucleotide variant |
not provided [RCV002847848] |
Chr10:71803084 [GRCh38] Chr10:73562841 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5894A>G (p.Gln1965Arg) |
single nucleotide variant |
not provided [RCV003036738] |
Chr10:71789013 [GRCh38] Chr10:73548770 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9644T>G (p.Leu3215Arg) |
single nucleotide variant |
not provided [RCV002796833] |
Chr10:71813254 [GRCh38] Chr10:73573011 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9500C>T (p.Thr3167Met) |
single nucleotide variant |
not provided [RCV002638507] |
Chr10:71812599 [GRCh38] Chr10:73572356 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4216A>G (p.Ile1406Val) |
single nucleotide variant |
not provided [RCV003002179] |
Chr10:71738504 [GRCh38] Chr10:73498261 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7022dup (p.Gly2342fs) |
duplication |
not provided [RCV002848423] |
Chr10:71798541..71798542 [GRCh38] Chr10:73558298..73558299 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3715+9G>T |
single nucleotide variant |
not provided [RCV002824908] |
Chr10:71730613 [GRCh38] Chr10:73490370 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3226G>A (p.Gly1076Ser) |
single nucleotide variant |
not provided [RCV002636527] |
Chr10:71712670 [GRCh38] Chr10:73472427 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.226C>T (p.Arg76Cys) |
single nucleotide variant |
not provided [RCV002636530] |
Chr10:71510162 [GRCh38] Chr10:73269919 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6986G>A (p.Gly2329Glu) |
single nucleotide variant |
not provided [RCV002796638] |
Chr10:71798510 [GRCh38] Chr10:73558267 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5936C>T (p.Thr1979Met) |
single nucleotide variant |
not provided [RCV003079465] |
Chr10:71790300 [GRCh38] Chr10:73550057 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1141-7G>T |
single nucleotide variant |
not provided [RCV002952721] |
Chr10:71645824 [GRCh38] Chr10:73405581 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8562G>T (p.Gly2854=) |
single nucleotide variant |
not provided [RCV003038953] |
Chr10:71807847 [GRCh38] Chr10:73567604 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5586G>A (p.Glu1862=) |
single nucleotide variant |
not provided [RCV002886550] |
Chr10:71784974 [GRCh38] Chr10:73544731 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.10024G>A (p.Asp3342Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002979807]|not provided [RCV002979806] |
Chr10:71815237 [GRCh38] Chr10:73574994 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9319+12C>T |
single nucleotide variant |
not provided [RCV003021050] |
Chr10:71811765 [GRCh38] Chr10:73571522 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5271C>A (p.Gly1757=) |
single nucleotide variant |
not provided [RCV002889212] |
Chr10:71779350 [GRCh38] Chr10:73539107 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6038A>G (p.Asn2013Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002848763] |
Chr10:71790402 [GRCh38] Chr10:73550159 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.10060_10062del (p.Leu3354del) |
deletion |
not provided [RCV002570249] |
Chr10:71815272..71815274 [GRCh38] Chr10:73575029..73575031 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6352A>G (p.Ile2118Val) |
single nucleotide variant |
not provided [RCV003077538] |
Chr10:71793280 [GRCh38] Chr10:73553037 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9780C>A (p.Ser3260Arg) |
single nucleotide variant |
not provided [RCV002885528] |
Chr10:71814993 [GRCh38] Chr10:73574750 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8887G>A (p.Glu2963Lys) |
single nucleotide variant |
not provided [RCV002637585] |
Chr10:71809984 [GRCh38] Chr10:73569741 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2588-16G>A |
single nucleotide variant |
not provided [RCV003052920] |
Chr10:71702533 [GRCh38] Chr10:73462290 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4779C>A (p.Asp1593Glu) |
single nucleotide variant |
not provided [RCV002510089] |
Chr10:71741855 [GRCh38] Chr10:73501612 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.288+7C>G |
single nucleotide variant |
not provided [RCV002823974] |
Chr10:71510231 [GRCh38] Chr10:73269988 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9510+20G>A |
single nucleotide variant |
not provided [RCV003080621] |
Chr10:71812629 [GRCh38] Chr10:73572386 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9738+7_9738+21del |
deletion |
not provided [RCV002998963] |
Chr10:71813355..71813369 [GRCh38] Chr10:73573112..73573126 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.625-10G>T |
single nucleotide variant |
not provided [RCV002695166] |
Chr10:71570780 [GRCh38] Chr10:73330537 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.624+1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475467]|not provided [RCV003021267] |
Chr10:71566937 [GRCh38] Chr10:73326694 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8941A>G (p.Asn2981Asp) |
single nucleotide variant |
not provided [RCV002592821] |
Chr10:71810038 [GRCh38] Chr10:73569795 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4432G>T (p.Glu1478Ter) |
single nucleotide variant |
not provided [RCV002866553] |
Chr10:71739716 [GRCh38] Chr10:73499473 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3573C>A (p.Ser1191=) |
single nucleotide variant |
not provided [RCV003036379] |
Chr10:71725514 [GRCh38] Chr10:73485271 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7220A>G (p.Tyr2407Cys) |
single nucleotide variant |
not provided [RCV002761594] |
Chr10:71799276 [GRCh38] Chr10:73559033 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8110A>G (p.Thr2704Ala) |
single nucleotide variant |
not provided [RCV002569643] |
Chr10:71806213 [GRCh38] Chr10:73565970 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9381-17T>C |
single nucleotide variant |
not provided [RCV003020769] |
Chr10:71812463 [GRCh38] Chr10:73572220 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1835T>A (p.Ile612Asn) |
single nucleotide variant |
not provided [RCV002706762] |
Chr10:71679469 [GRCh38] Chr10:73439226 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9738+14_9738+21dup |
duplication |
not provided [RCV003038846] |
Chr10:71813354..71813355 [GRCh38] Chr10:73573111..73573112 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7144C>G (p.Arg2382Gly) |
single nucleotide variant |
not provided [RCV002948542] |
Chr10:71799200 [GRCh38] Chr10:73558957 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4432G>A (p.Glu1478Lys) |
single nucleotide variant |
not provided [RCV003052975] |
Chr10:71739716 [GRCh38] Chr10:73499473 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1419C>T (p.Val473=) |
single nucleotide variant |
not provided [RCV003020087] |
Chr10:71646587 [GRCh38] Chr10:73406344 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7442C>T (p.Pro2481Leu) |
single nucleotide variant |
not provided [RCV002979006] |
Chr10:71800715 [GRCh38] Chr10:73560472 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8224C>T (p.Pro2742Ser) |
single nucleotide variant |
not provided [RCV003002151] |
Chr10:71807322 [GRCh38] Chr10:73567079 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3059C>G (p.Thr1020Arg) |
single nucleotide variant |
not provided [RCV002800079] |
Chr10:71707002 [GRCh38] Chr10:73466759 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4288G>A (p.Glu1430Lys) |
single nucleotide variant |
not provided [RCV003078209] |
Chr10:71738576 [GRCh38] Chr10:73498333 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9510+19G>A |
single nucleotide variant |
not provided [RCV003078215] |
Chr10:71812628 [GRCh38] Chr10:73572385 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4489-6T>G |
single nucleotide variant |
not provided [RCV002847395] |
Chr10:71740816 [GRCh38] Chr10:73500573 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6366C>G (p.Thr2122=) |
single nucleotide variant |
not provided [RCV002847847] |
Chr10:71793294 [GRCh38] Chr10:73553051 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4338T>C (p.Pro1446=) |
single nucleotide variant |
not provided [RCV002735305] |
Chr10:71738626 [GRCh38] Chr10:73498383 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.10045dup (p.Leu3349fs) |
duplication |
not provided [RCV002761665] |
Chr10:71815252..71815253 [GRCh38] Chr10:73575009..73575010 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6543G>A (p.Val2181=) |
single nucleotide variant |
not provided [RCV002761668] |
Chr10:71793471 [GRCh38] Chr10:73553228 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7873-5C>T |
single nucleotide variant |
not provided [RCV002870704] |
Chr10:71805801 [GRCh38] Chr10:73565558 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1A>T (p.Met1Leu) |
single nucleotide variant |
not provided [RCV002662469] |
Chr10:71439832 [GRCh38] Chr10:73199589 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2098C>T (p.Arg700Cys) |
single nucleotide variant |
not provided [RCV002761317] |
Chr10:71690506 [GRCh38] Chr10:73450263 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4359+5G>C |
single nucleotide variant |
not provided [RCV002848079] |
Chr10:71738652 [GRCh38] Chr10:73498409 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3643C>A (p.Arg1215Ser) |
single nucleotide variant |
not provided [RCV003080605] |
Chr10:71730532 [GRCh38] Chr10:73490289 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9380+12A>G |
single nucleotide variant |
not provided [RCV002621416] |
Chr10:71812027 [GRCh38] Chr10:73571784 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6516C>A (p.Pro2172=) |
single nucleotide variant |
not provided [RCV002847485] |
Chr10:71793444 [GRCh38] Chr10:73553201 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.118C>T (p.Leu40=) |
single nucleotide variant |
not provided [RCV002913919] |
Chr10:71446368 [GRCh38] Chr10:73206125 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4705G>A (p.Glu1569Lys) |
single nucleotide variant |
not provided [RCV002948925] |
Chr10:71741781 [GRCh38] Chr10:73501538 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.10045del (p.Leu3349fs) |
deletion |
not provided [RCV002796354] |
Chr10:71815253 [GRCh38] Chr10:73575010 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8765C>T (p.Ala2922Val) |
single nucleotide variant |
not provided [RCV003100350] |
Chr10:71809862 [GRCh38] Chr10:73569619 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9453C>A (p.Asp3151Glu) |
single nucleotide variant |
not provided [RCV003018411] |
Chr10:71812552 [GRCh38] Chr10:73572309 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8178+16T>A |
single nucleotide variant |
not provided [RCV003019032] |
Chr10:71806297 [GRCh38] Chr10:73566054 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2943C>A (p.Leu981=) |
single nucleotide variant |
not provided [RCV003019532] |
Chr10:71705120 [GRCh38] Chr10:73464877 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3979G>T (p.Ala1327Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002798887] |
Chr10:71732250 [GRCh38] Chr10:73492007 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9501dup (p.Arg3168fs) |
duplication |
not provided [RCV002870754] |
Chr10:71812599..71812600 [GRCh38] Chr10:73572356..73572357 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.10029G>C (p.Val3343=) |
single nucleotide variant |
not provided [RCV002695716] |
Chr10:71815242 [GRCh38] Chr10:73574999 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4209+15G>A |
single nucleotide variant |
not provided [RCV002976407] |
Chr10:71734673 [GRCh38] Chr10:73494430 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2289+1G>C |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475465]|not provided [RCV003021107] |
Chr10:71694260 [GRCh38] Chr10:73454017 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.8874G>A (p.Lys2958=) |
single nucleotide variant |
not provided [RCV003021272] |
Chr10:71809971 [GRCh38] Chr10:73569728 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3462C>T (p.Val1154=) |
single nucleotide variant |
not provided [RCV002734962] |
Chr10:71725403 [GRCh38] Chr10:73485160 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5506C>T (p.Leu1836=) |
single nucleotide variant |
not provided [RCV003019555] |
Chr10:71784894 [GRCh38] Chr10:73544651 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.484G>A (p.Gly162Arg) |
single nucleotide variant |
not provided [RCV003037343] |
Chr10:71566796 [GRCh38] Chr10:73326553 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8159C>A (p.Pro2720His) |
single nucleotide variant |
not provided [RCV003037345] |
Chr10:71806262 [GRCh38] Chr10:73566019 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8734G>A (p.Gly2912Ser) |
single nucleotide variant |
not provided [RCV003037347] |
Chr10:71809831 [GRCh38] Chr10:73569588 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7830C>T (p.Val2610=) |
single nucleotide variant |
not provided [RCV003036620] |
Chr10:71803378 [GRCh38] Chr10:73563135 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7770A>T (p.Pro2590=) |
single nucleotide variant |
not provided [RCV003059090] |
Chr10:71803318 [GRCh38] Chr10:73563075 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5452A>G (p.Asn1818Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002929576] |
Chr10:71784370 [GRCh38] Chr10:73544127 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6232C>A (p.Leu2078Met) |
single nucleotide variant |
not provided [RCV003084588] |
Chr10:71791314 [GRCh38] Chr10:73551071 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8413G>C (p.Ala2805Pro) |
single nucleotide variant |
not provided [RCV002895050] |
Chr10:71807620 [GRCh38] Chr10:73567377 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8722+18_8722+19del |
deletion |
not provided [RCV003084688] |
Chr10:71808025..71808026 [GRCh38] Chr10:73567782..73567783 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9561C>A (p.Tyr3187Ter) |
single nucleotide variant |
not provided [RCV002893892] |
Chr10:71812818 [GRCh38] Chr10:73572575 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4001G>A (p.Arg1334Gln) |
single nucleotide variant |
not provided [RCV003058628] |
Chr10:71732272 [GRCh38] Chr10:73492029 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7225-12C>T |
single nucleotide variant |
not provided [RCV002852926] |
Chr10:71799480 [GRCh38] Chr10:73559237 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3597G>A (p.Glu1199=) |
single nucleotide variant |
not provided [RCV003084698] |
Chr10:71730486 [GRCh38] Chr10:73490243 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6411G>A (p.Gln2137=) |
single nucleotide variant |
not provided [RCV002932165] |
Chr10:71793339 [GRCh38] Chr10:73553096 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8064+17G>C |
single nucleotide variant |
not provided [RCV002575817] |
Chr10:71806014 [GRCh38] Chr10:73565771 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2467T>C (p.Phe823Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002768616] |
Chr10:71702091 [GRCh38] Chr10:73461848 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7363-16A>G |
single nucleotide variant |
not provided [RCV002663466] |
Chr10:71800620 [GRCh38] Chr10:73560377 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6348C>T (p.Phe2116=) |
single nucleotide variant |
not provided [RCV002890715] |
Chr10:71793276 [GRCh38] Chr10:73553033 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3251G>A (p.Gly1084Asp) |
single nucleotide variant |
not provided [RCV002643517] |
Chr10:71712695 [GRCh38] Chr10:73472452 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.603C>G (p.Tyr201Ter) |
single nucleotide variant |
not provided [RCV002575783] |
Chr10:71566915 [GRCh38] Chr10:73326672 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.9049G>A (p.Asp3017Asn) |
single nucleotide variant |
not provided [RCV003085286] |
Chr10:71810541 [GRCh38] Chr10:73570298 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1395C>T (p.Tyr465=) |
single nucleotide variant |
not provided [RCV003026203] |
Chr10:71646563 [GRCh38] Chr10:73406320 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5264C>T (p.Thr1755Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002919776] |
Chr10:71779343 [GRCh38] Chr10:73539100 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5638A>C (p.Ser1880Arg) |
single nucleotide variant |
not provided [RCV002572514] |
Chr10:71785026 [GRCh38] Chr10:73544783 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8073G>T (p.Leu2691Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002854522] |
Chr10:71806176 [GRCh38] Chr10:73565933 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2176+7C>G |
single nucleotide variant |
not provided [RCV003026107] |
Chr10:71690591 [GRCh38] Chr10:73450348 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1616del (p.Gly539fs) |
deletion |
not provided [RCV002954204] |
Chr10:71677553 [GRCh38] Chr10:73437310 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4261A>T (p.Thr1421Ser) |
single nucleotide variant |
not provided [RCV003041497] |
Chr10:71738549 [GRCh38] Chr10:73498306 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1291-3del |
deletion |
not provided [RCV002711376] |
Chr10:71646452 [GRCh38] Chr10:73406209 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.7319G>A (p.Ser2440Asn) |
single nucleotide variant |
not provided [RCV003043569] |
Chr10:71799586 [GRCh38] Chr10:73559343 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2290-6T>C |
single nucleotide variant |
not provided [RCV002829573] |
Chr10:71695412 [GRCh38] Chr10:73455169 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.911C>T (p.Pro304Leu) |
single nucleotide variant |
not provided [RCV003059358] |
Chr10:71615582 [GRCh38] Chr10:73375339 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6454G>A (p.Val2152Ile) |
single nucleotide variant |
not provided [RCV003085890] |
Chr10:71793382 [GRCh38] Chr10:73553139 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7488G>A (p.Val2496=) |
single nucleotide variant |
not provided [RCV003084943] |
Chr10:71802903 [GRCh38] Chr10:73562660 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4503C>T (p.Asp1501=) |
single nucleotide variant |
not provided [RCV003043691] |
Chr10:71740836 [GRCh38] Chr10:73500593 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9969C>A (p.Phe3323Leu) |
single nucleotide variant |
not provided [RCV002645754] |
Chr10:71815182 [GRCh38] Chr10:73574939 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4987G>A (p.Asp1663Asn) |
single nucleotide variant |
not provided [RCV002597248] |
Chr10:71777821 [GRCh38] Chr10:73537578 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.67+19G>T |
single nucleotide variant |
not provided [RCV002667698] |
Chr10:71439917 [GRCh38] Chr10:73199674 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2733+16C>T |
single nucleotide variant |
not provided [RCV002853212] |
Chr10:71702710 [GRCh38] Chr10:73462467 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.617A>G (p.Asn206Ser) |
single nucleotide variant |
not provided [RCV003059914] |
Chr10:71566929 [GRCh38] Chr10:73326686 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8053_8054delinsTT (p.Ala2685Leu) |
indel |
not provided [RCV002932416] |
Chr10:71805986..71805987 [GRCh38] Chr10:73565743..73565744 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.765G>A (p.Val255=) |
single nucleotide variant |
not provided [RCV002791132] |
Chr10:71577925 [GRCh38] Chr10:73337682 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9782dup (p.Gly3262fs) |
duplication |
not provided [RCV002745723] |
Chr10:71814992..71814993 [GRCh38] Chr10:73574749..73574750 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6339G>A (p.Gln2113=) |
single nucleotide variant |
not provided [RCV002871630] |
Chr10:71793267 [GRCh38] Chr10:73553024 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5220T>C (p.Asn1740=) |
single nucleotide variant |
not provided [RCV002700984] |
Chr10:71779299 [GRCh38] Chr10:73539056 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8710G>T (p.Val2904Phe) |
single nucleotide variant |
not provided [RCV003085598] |
Chr10:71807995 [GRCh38] Chr10:73567752 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8569A>C (p.Thr2857Pro) |
single nucleotide variant |
not provided [RCV003084531] |
Chr10:71807854 [GRCh38] Chr10:73567611 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5219A>G (p.Asn1740Ser) |
single nucleotide variant |
not provided [RCV002805596] |
Chr10:71779298 [GRCh38] Chr10:73539055 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4832C>T (p.Thr1611Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002744879] |
Chr10:71741908 [GRCh38] Chr10:73501665 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8922G>A (p.Glu2974=) |
single nucleotide variant |
not provided [RCV003040254] |
Chr10:71810019 [GRCh38] Chr10:73569776 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2643G>A (p.Leu881=) |
single nucleotide variant |
not provided [RCV003023712] |
Chr10:71702604 [GRCh38] Chr10:73462361 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.956T>G (p.Leu319Arg) |
single nucleotide variant |
not provided [RCV003055937] |
Chr10:71617215 [GRCh38] Chr10:73376972 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7849G>A (p.Gly2617Ser) |
single nucleotide variant |
not provided [RCV002595440] |
Chr10:71803397 [GRCh38] Chr10:73563154 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6549G>A (p.Val2183=) |
single nucleotide variant |
not provided [RCV003042796] |
Chr10:71793477 [GRCh38] Chr10:73553234 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5455_5457del (p.Leu1819del) |
deletion |
not provided [RCV002875965] |
Chr10:71784373..71784375 [GRCh38] Chr10:73544130..73544132 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9447G>T (p.Glu3149Asp) |
single nucleotide variant |
not provided [RCV003058525] |
Chr10:71812546 [GRCh38] Chr10:73572303 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7743G>C (p.Val2581=) |
single nucleotide variant |
not provided [RCV002876063] |
Chr10:71803291 [GRCh38] Chr10:73563048 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4210-16C>T |
single nucleotide variant |
not provided [RCV003085671] |
Chr10:71738482 [GRCh38] Chr10:73498239 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6809del (p.Arg2270fs) |
deletion |
not provided [RCV002894856] |
Chr10:71797200 [GRCh38] Chr10:73556957 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7571C>T (p.Ala2524Val) |
single nucleotide variant |
not provided [RCV003082480] |
Chr10:71802986 [GRCh38] Chr10:73562743 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2105G>A (p.Arg702Gln) |
single nucleotide variant |
not provided [RCV003041279] |
Chr10:71690513 [GRCh38] Chr10:73450270 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8534G>T (p.Arg2845Leu) |
single nucleotide variant |
not provided [RCV002766546] |
Chr10:71807741 [GRCh38] Chr10:73567498 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9282C>T (p.His3094=) |
single nucleotide variant |
not provided [RCV003043377] |
Chr10:71811716 [GRCh38] Chr10:73571473 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6167del (p.Leu2056fs) |
deletion |
not provided [RCV002853404] |
Chr10:71791249 [GRCh38] Chr10:73551006 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7371C>A (p.Ile2457=) |
single nucleotide variant |
not provided [RCV003005566] |
Chr10:71800644 [GRCh38] Chr10:73560401 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9145G>A (p.Asp3049Asn) |
single nucleotide variant |
not provided [RCV003005854] |
Chr10:71811382 [GRCh38] Chr10:73571139 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4445C>T (p.Ala1482Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003274245]|not provided [RCV002574557] |
Chr10:71739729 [GRCh38] Chr10:73499486 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4018A>G (p.Ile1340Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003162009]|not provided [RCV002643618] |
Chr10:71732289 [GRCh38] Chr10:73492046 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1221G>A (p.Gly407=) |
single nucleotide variant |
not provided [RCV002666650] |
Chr10:71645911 [GRCh38] Chr10:73405668 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.87C>T (p.Pro29=) |
single nucleotide variant |
not provided [RCV002891024] |
Chr10:71446337 [GRCh38] Chr10:73206094 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2478C>T (p.Leu826=) |
single nucleotide variant |
not provided [RCV002786249] |
Chr10:71702102 [GRCh38] Chr10:73461859 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4360-10C>T |
single nucleotide variant |
not provided [RCV003040267] |
Chr10:71739634 [GRCh38] Chr10:73499391 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7152T>C (p.Ala2384=) |
single nucleotide variant |
not provided [RCV002710212] |
Chr10:71799208 [GRCh38] Chr10:73558965 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7110T>C (p.Phe2370=) |
single nucleotide variant |
not provided [RCV002801209] |
Chr10:71799166 [GRCh38] Chr10:73558923 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7836G>A (p.Val2612=) |
single nucleotide variant |
not provided [RCV002663950] |
Chr10:71803384 [GRCh38] Chr10:73563141 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6636C>G (p.Val2212=) |
single nucleotide variant |
not provided [RCV003005438] |
Chr10:71793564 [GRCh38] Chr10:73553321 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6189T>C (p.Asn2063=) |
single nucleotide variant |
not provided [RCV003083758] |
Chr10:71791271 [GRCh38] Chr10:73551028 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.633C>T (p.Asp211=) |
single nucleotide variant |
not provided [RCV002711426] |
Chr10:71570798 [GRCh38] Chr10:73330555 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2082T>C (p.Asn694=) |
single nucleotide variant |
not provided [RCV002852493] |
Chr10:71690490 [GRCh38] Chr10:73450247 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7872+2T>A |
single nucleotide variant |
not provided [RCV002828047] |
Chr10:71803422 [GRCh38] Chr10:73563179 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8833A>G (p.Ile2945Val) |
single nucleotide variant |
not provided [RCV002508719] |
Chr10:71809930 [GRCh38] Chr10:73569687 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3916G>A (p.Glu1306Lys) |
single nucleotide variant |
not provided [RCV003056481] |
Chr10:71732187 [GRCh38] Chr10:73491944 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2802C>T (p.Pro934=) |
single nucleotide variant |
not provided [RCV003022552] |
Chr10:71704979 [GRCh38] Chr10:73464736 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8504T>C (p.Val2835Ala) |
single nucleotide variant |
not provided [RCV002573100] |
Chr10:71807711 [GRCh38] Chr10:73567468 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2176+1G>A |
single nucleotide variant |
not provided [RCV002931851] |
Chr10:71690585 [GRCh38] Chr10:73450342 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4104+14G>A |
single nucleotide variant |
not provided [RCV002664143] |
Chr10:71732389 [GRCh38] Chr10:73492146 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2177-9C>A |
single nucleotide variant |
not provided [RCV002829015] |
Chr10:71694138 [GRCh38] Chr10:73453895 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7985_7988dup (p.Phe2663fs) |
duplication |
not provided [RCV002914984] |
Chr10:71805917..71805918 [GRCh38] Chr10:73565674..73565675 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4866G>C (p.Val1622=) |
single nucleotide variant |
not provided [RCV003023316] |
Chr10:71777700 [GRCh38] Chr10:73537457 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1035C>T (p.Ala345=) |
single nucleotide variant |
not provided [RCV002766327] |
Chr10:71617294 [GRCh38] Chr10:73377051 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7872+14G>A |
single nucleotide variant |
not provided [RCV003056572] |
Chr10:71803434 [GRCh38] Chr10:73563191 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6712+19dup |
duplication |
not provided [RCV003024387] |
Chr10:71793655..71793656 [GRCh38] Chr10:73553412..73553413 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.9489G>A (p.Trp3163Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475494]|not provided [RCV003058255] |
Chr10:71812588 [GRCh38] Chr10:73572345 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3134T>C (p.Val1045Ala) |
single nucleotide variant |
not provided [RCV003081822] |
Chr10:71709125 [GRCh38] Chr10:73468882 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8877C>G (p.Ile2959Met) |
single nucleotide variant |
not provided [RCV002957490] |
Chr10:71809974 [GRCh38] Chr10:73569731 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7872+13C>T |
single nucleotide variant |
not provided [RCV003081858] |
Chr10:71803433 [GRCh38] Chr10:73563190 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2888T>C (p.Leu963Pro) |
single nucleotide variant |
not provided [RCV002982974] |
Chr10:71705065 [GRCh38] Chr10:73464822 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5434G>C (p.Glu1812Gln) |
single nucleotide variant |
not provided [RCV003024567] |
Chr10:71784352 [GRCh38] Chr10:73544109 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5196G>A (p.Val1732=) |
single nucleotide variant |
not provided [RCV002871686] |
Chr10:71779275 [GRCh38] Chr10:73539032 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6271G>A (p.Val2091Ile) |
single nucleotide variant |
not provided [RCV002914581] |
Chr10:71793199 [GRCh38] Chr10:73552956 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7303G>T (p.Ala2435Ser) |
single nucleotide variant |
not provided [RCV003005060] |
Chr10:71799570 [GRCh38] Chr10:73559327 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6575T>C (p.Val2192Ala) |
single nucleotide variant |
not provided [RCV003039791] |
Chr10:71793503 [GRCh38] Chr10:73553260 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.337G>A (p.Val113Met) |
single nucleotide variant |
not provided [RCV002663781] |
Chr10:71511120 [GRCh38] Chr10:73270877 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6577A>G (p.Ile2193Val) |
single nucleotide variant |
not provided [RCV003082958] |
Chr10:71793505 [GRCh38] Chr10:73553262 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.347G>A (p.Arg116Gln) |
single nucleotide variant |
not provided [RCV003083673] |
Chr10:71511130 [GRCh38] Chr10:73270887 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.348G>A (p.Arg116=) |
single nucleotide variant |
not provided [RCV002576072] |
Chr10:71511131 [GRCh38] Chr10:73270888 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3579+10G>A |
single nucleotide variant |
not provided [RCV002805300] |
Chr10:71725530 [GRCh38] Chr10:73485287 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6512G>T (p.Arg2171Leu) |
single nucleotide variant |
not provided [RCV002745645] |
Chr10:71793440 [GRCh38] Chr10:73553197 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.754-7T>G |
single nucleotide variant |
not provided [RCV002573058] |
Chr10:71577907 [GRCh38] Chr10:73337664 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4859T>G (p.Val1620Gly) |
single nucleotide variant |
not provided [RCV002711649] |
Chr10:71777693 [GRCh38] Chr10:73537450 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7293A>G (p.Ser2431=) |
single nucleotide variant |
not provided [RCV002852713] |
Chr10:71799560 [GRCh38] Chr10:73559317 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2874C>A (p.Ile958=) |
single nucleotide variant |
not provided [RCV002851535] |
Chr10:71705051 [GRCh38] Chr10:73464808 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1427G>C (p.Gly476Ala) |
single nucleotide variant |
not provided [RCV003085097] |
Chr10:71646595 [GRCh38] Chr10:73406352 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8828C>T (p.Thr2943Met) |
single nucleotide variant |
not provided [RCV003059052] |
Chr10:71809925 [GRCh38] Chr10:73569682 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9099G>A (p.Glu3033=) |
single nucleotide variant |
not provided [RCV002626821] |
Chr10:71811336 [GRCh38] Chr10:73571093 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3944A>G (p.Asn1315Ser) |
single nucleotide variant |
not provided [RCV003085703] |
Chr10:71732215 [GRCh38] Chr10:73491972 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.294G>A (p.Lys98=) |
single nucleotide variant |
not provided [RCV003025328] |
Chr10:71510959 [GRCh38] Chr10:73270716 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5675C>T (p.Ala1892Val) |
single nucleotide variant |
not provided [RCV003085704] |
Chr10:71785063 [GRCh38] Chr10:73544820 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8064+15del |
deletion |
not provided [RCV002852499] |
Chr10:71806010 [GRCh38] Chr10:73565767 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2319C>T (p.Asp773=) |
single nucleotide variant |
not provided [RCV003024488] |
Chr10:71695447 [GRCh38] Chr10:73455204 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2769C>T (p.Gly923=) |
single nucleotide variant |
not provided [RCV002711985] |
Chr10:71704946 [GRCh38] Chr10:73464703 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.21C>T (p.Thr7=) |
single nucleotide variant |
not provided [RCV002853053] |
Chr10:71439852 [GRCh38] Chr10:73199609 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3582G>A (p.Val1194=) |
single nucleotide variant |
not provided [RCV002791227] |
Chr10:71730471 [GRCh38] Chr10:73490228 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5187+3G>A |
single nucleotide variant |
not provided [RCV002801014] |
Chr10:71778311 [GRCh38] Chr10:73538068 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4846-20T>C |
single nucleotide variant |
not provided [RCV002741189] |
Chr10:71777660 [GRCh38] Chr10:73537417 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5684G>A (p.Arg1895His) |
single nucleotide variant |
not provided [RCV003083522] |
Chr10:71785072 [GRCh38] Chr10:73544829 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1515-13C>T |
single nucleotide variant |
not provided [RCV003084273] |
Chr10:71677443 [GRCh38] Chr10:73437200 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2939C>A (p.Thr980Lys) |
single nucleotide variant |
not provided [RCV002712019] |
Chr10:71705116 [GRCh38] Chr10:73464873 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6925del (p.Ala2309fs) |
deletion |
not provided [RCV003057759] |
Chr10:71798445 [GRCh38] Chr10:73558202 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2752G>A (p.Asp918Asn) |
single nucleotide variant |
not provided [RCV003058252] |
Chr10:71704929 [GRCh38] Chr10:73464686 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2991G>A (p.Pro997=) |
single nucleotide variant |
not provided [RCV002958371] |
Chr10:71706934 [GRCh38] Chr10:73466691 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9036C>T (p.His3012=) |
single nucleotide variant |
not provided [RCV003008011] |
Chr10:71810528 [GRCh38] Chr10:73570285 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5931del (p.Leu1978fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003475447]|not provided [RCV002872378] |
Chr10:71790295 [GRCh38] Chr10:73550052 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.3000C>T (p.Tyr1000=) |
single nucleotide variant |
not provided [RCV003039731] |
Chr10:71706943 [GRCh38] Chr10:73466700 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1235G>A (p.Arg412His) |
single nucleotide variant |
not provided [RCV002624847] |
Chr10:71645925 [GRCh38] Chr10:73405682 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5149T>A (p.Cys1717Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002802808] |
Chr10:71778270 [GRCh38] Chr10:73538027 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1913A>G (p.Tyr638Cys) |
single nucleotide variant |
not provided [RCV002740815] |
Chr10:71682499 [GRCh38] Chr10:73442256 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5844C>T (p.Phe1948=) |
single nucleotide variant |
not provided [RCV002663227] |
Chr10:71788963 [GRCh38] Chr10:73548720 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5081C>A (p.Ala1694Asp) |
single nucleotide variant |
not provided [RCV003056108] |
Chr10:71778202 [GRCh38] Chr10:73537959 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6025C>G (p.Leu2009Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002742452] |
Chr10:71790389 [GRCh38] Chr10:73550146 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4466A>G (p.Glu1489Gly) |
single nucleotide variant |
not provided [RCV002574419] |
Chr10:71739750 [GRCh38] Chr10:73499507 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5399T>A (p.Val1800Glu) |
single nucleotide variant |
not provided [RCV003058626] |
Chr10:71784317 [GRCh38] Chr10:73544074 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5725A>T (p.Thr1909Ser) |
single nucleotide variant |
not provided [RCV003084708] |
Chr10:71785643 [GRCh38] Chr10:73545400 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6050-8G>C |
single nucleotide variant |
not provided [RCV003057175] |
Chr10:71791124 [GRCh38] Chr10:73550881 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8025T>A (p.Thr2675=) |
single nucleotide variant |
not provided [RCV003041665] |
Chr10:71805958 [GRCh38] Chr10:73565715 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3502C>A (p.Arg1168=) |
single nucleotide variant |
not provided [RCV002711200] |
Chr10:71725443 [GRCh38] Chr10:73485200 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9051T>C (p.Asp3017=) |
single nucleotide variant |
not provided [RCV002596291] |
Chr10:71810543 [GRCh38] Chr10:73570300 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2476del (p.Leu826fs) |
deletion |
not provided [RCV002830078] |
Chr10:71702099 [GRCh38] Chr10:73461856 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.9240C>T (p.Ala3080=) |
single nucleotide variant |
not provided [RCV003057964] |
Chr10:71811552 [GRCh38] Chr10:73571309 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.174A>G (p.Gln58=) |
single nucleotide variant |
not provided [RCV003006046] |
Chr10:71510110 [GRCh38] Chr10:73269867 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9510+3G>A |
single nucleotide variant |
not provided [RCV003084855] |
Chr10:71812612 [GRCh38] Chr10:73572369 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2398-20G>A |
single nucleotide variant |
not provided [RCV002745441] |
Chr10:71702002 [GRCh38] Chr10:73461759 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3183G>C (p.Glu1061Asp) |
single nucleotide variant |
not provided [RCV003084625] |
Chr10:71709174 [GRCh38] Chr10:73468931 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.695T>G (p.Met232Arg) |
single nucleotide variant |
not provided [RCV003058793] |
Chr10:71570860 [GRCh38] Chr10:73330617 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.946-5C>G |
single nucleotide variant |
not provided [RCV002701497] |
Chr10:71617200 [GRCh38] Chr10:73376957 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3955G>A (p.Glu1319Lys) |
single nucleotide variant |
not provided [RCV002928977] |
Chr10:71732226 [GRCh38] Chr10:73491983 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2542C>A (p.His848Asn) |
single nucleotide variant |
not provided [RCV002829947] |
Chr10:71702166 [GRCh38] Chr10:73461923 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3460G>A (p.Val1154Ile) |
single nucleotide variant |
not provided [RCV002710819] |
Chr10:71725401 [GRCh38] Chr10:73485158 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8308+15A>C |
single nucleotide variant |
not provided [RCV003084530] |
Chr10:71807421 [GRCh38] Chr10:73567178 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4206+13A>G |
single nucleotide variant |
not provided [RCV003025553] |
Chr10:71734354 [GRCh38] Chr10:73494111 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5989G>T (p.Val1997Leu) |
single nucleotide variant |
not provided [RCV003025798] |
Chr10:71790353 [GRCh38] Chr10:73550110 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7578C>G (p.Thr2526=) |
single nucleotide variant |
not provided [RCV002643083] |
Chr10:71802993 [GRCh38] Chr10:73562750 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1184C>G (p.Ser395Cys) |
single nucleotide variant |
not provided [RCV002917795] |
Chr10:71645874 [GRCh38] Chr10:73405631 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4359+15G>A |
single nucleotide variant |
not provided [RCV002765700] |
Chr10:71738662 [GRCh38] Chr10:73498419 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7224+3G>A |
single nucleotide variant |
not provided [RCV003058524] |
Chr10:71799283 [GRCh38] Chr10:73559040 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.800G>A (p.Arg267His) |
single nucleotide variant |
not provided [RCV002596177] |
Chr10:71577960 [GRCh38] Chr10:73337717 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.876G>A (p.Val292=) |
single nucleotide variant |
not provided [RCV002875604] |
Chr10:71615547 [GRCh38] Chr10:73375304 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1347T>C (p.Thr449=) |
single nucleotide variant |
not provided [RCV003007674] |
Chr10:71646515 [GRCh38] Chr10:73406272 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.522dup (p.Ser175fs) |
duplication |
not provided [RCV003043137] |
Chr10:71566828..71566829 [GRCh38] Chr10:73326585..73326586 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.6804A>G (p.Pro2268=) |
single nucleotide variant |
not provided [RCV002626867] |
Chr10:71797195 [GRCh38] Chr10:73556952 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.542A>C (p.Asp181Ala) |
single nucleotide variant |
not provided [RCV003023510] |
Chr10:71566854 [GRCh38] Chr10:73326611 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7777G>C (p.Gly2593Arg) |
single nucleotide variant |
not provided [RCV003057655] |
Chr10:71803325 [GRCh38] Chr10:73563082 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.228C>T (p.Arg76=) |
single nucleotide variant |
not provided [RCV003084650] |
Chr10:71510164 [GRCh38] Chr10:73269921 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6511C>T (p.Arg2171Cys) |
single nucleotide variant |
not provided [RCV003058253] |
Chr10:71793439 [GRCh38] Chr10:73553196 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.26G>T (p.Cys9Phe) |
single nucleotide variant |
not provided [RCV002596407] |
Chr10:71439857 [GRCh38] Chr10:73199614 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2289+50G>T |
single nucleotide variant |
not provided [RCV003059078] |
Chr10:71694309 [GRCh38] Chr10:73454066 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2733+7C>G |
single nucleotide variant |
not provided [RCV003057799] |
Chr10:71702701 [GRCh38] Chr10:73462458 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5403A>G (p.Leu1801=) |
single nucleotide variant |
not provided [RCV003059091] |
Chr10:71784321 [GRCh38] Chr10:73544078 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9010T>G (p.Phe3004Val) |
single nucleotide variant |
not provided [RCV003025605] |
Chr10:71810502 [GRCh38] Chr10:73570259 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4803C>A (p.His1601Gln) |
single nucleotide variant |
not provided [RCV002666826] |
Chr10:71741879 [GRCh38] Chr10:73501636 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4625G>C (p.Gly1542Ala) |
single nucleotide variant |
not provided [RCV002595342] |
Chr10:71741701 [GRCh38] Chr10:73501458 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2190C>G (p.Thr730=) |
single nucleotide variant |
not provided [RCV003006492] |
Chr10:71694160 [GRCh38] Chr10:73453917 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7121C>T (p.Ala2374Val) |
single nucleotide variant |
not provided [RCV003082820] |
Chr10:71799177 [GRCh38] Chr10:73558934 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7559dup (p.Asn2521fs) |
duplication |
not provided [RCV002765820] |
Chr10:71802973..71802974 [GRCh38] Chr10:73562730..73562731 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7036C>T (p.Leu2346=) |
single nucleotide variant |
not provided [RCV003005917] |
Chr10:71798560 [GRCh38] Chr10:73558317 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3670A>G (p.Ile1224Val) |
single nucleotide variant |
not provided [RCV002740536] |
Chr10:71730559 [GRCh38] Chr10:73490316 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6884C>T (p.Pro2295Leu) |
single nucleotide variant |
not provided [RCV002710159] |
Chr10:71798408 [GRCh38] Chr10:73558165 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3230C>G (p.Pro1077Arg) |
single nucleotide variant |
not provided [RCV003041659] |
Chr10:71712674 [GRCh38] Chr10:73472431 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8065-5C>T |
single nucleotide variant |
not provided [RCV003042888] |
Chr10:71806163 [GRCh38] Chr10:73565920 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1420del (p.Thr474fs) |
deletion |
not provided [RCV002958513] |
Chr10:71646588 [GRCh38] Chr10:73406345 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2060-6C>T |
single nucleotide variant |
not provided [RCV002745309] |
Chr10:71690462 [GRCh38] Chr10:73450219 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2414del (p.Pro805fs) |
deletion |
not provided [RCV002917892] |
Chr10:71702036 [GRCh38] Chr10:73461793 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7857C>A (p.Ile2619=) |
single nucleotide variant |
not provided [RCV002852569] |
Chr10:71803405 [GRCh38] Chr10:73563162 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9636C>T (p.Gly3212=) |
single nucleotide variant |
not provided [RCV002786218] |
Chr10:71813246 [GRCh38] Chr10:73573003 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4513C>G (p.Pro1505Ala) |
single nucleotide variant |
not provided [RCV002800702] |
Chr10:71740846 [GRCh38] Chr10:73500603 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7989C>G (p.Phe2663Leu) |
single nucleotide variant |
not provided [RCV002806580] |
Chr10:71805922 [GRCh38] Chr10:73565679 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6885C>G (p.Pro2295=) |
single nucleotide variant |
not provided [RCV003048686] |
Chr10:71798409 [GRCh38] Chr10:73558166 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9433C>T (p.Gln3145Ter) |
single nucleotide variant |
not provided [RCV002810746] |
Chr10:71812532 [GRCh38] Chr10:73572289 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7398G>A (p.Glu2466=) |
single nucleotide variant |
not provided [RCV002810748] |
Chr10:71800671 [GRCh38] Chr10:73560428 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8031G>A (p.Gln2677=) |
single nucleotide variant |
not provided [RCV002938453] |
Chr10:71805964 [GRCh38] Chr10:73565721 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.584A>G (p.Tyr195Cys) |
single nucleotide variant |
not provided [RCV002810605] |
Chr10:71566896 [GRCh38] Chr10:73326653 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5923+20G>A |
single nucleotide variant |
not provided [RCV002651866] |
Chr10:71789062 [GRCh38] Chr10:73548819 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3133G>A (p.Val1045Met) |
single nucleotide variant |
not provided [RCV002651901] |
Chr10:71709124 [GRCh38] Chr10:73468881 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1149C>A (p.Asn383Lys) |
single nucleotide variant |
not provided [RCV003090682] |
Chr10:71645839 [GRCh38] Chr10:73405596 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1029C>T (p.Asp343=) |
single nucleotide variant |
not provided [RCV003026981] |
Chr10:71617288 [GRCh38] Chr10:73377045 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8723-2A>G |
single nucleotide variant |
not provided [RCV002630901] |
Chr10:71809818 [GRCh38] Chr10:73569575 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4844C>T (p.Ser1615Leu) |
single nucleotide variant |
not provided [RCV002649818] |
Chr10:71741920 [GRCh38] Chr10:73501677 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6499A>G (p.Ile2167Val) |
single nucleotide variant |
not provided [RCV003049330] |
Chr10:71793427 [GRCh38] Chr10:73553184 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6545G>A (p.Ser2182Asn) |
single nucleotide variant |
not provided [RCV002746709] |
Chr10:71793473 [GRCh38] Chr10:73553230 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1458C>G (p.Asp486Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002808265] |
Chr10:71675120 [GRCh38] Chr10:73434877 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9749C>T (p.Thr3250Ile) |
single nucleotide variant |
not provided [RCV003065341] |
Chr10:71814962 [GRCh38] Chr10:73574719 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7146G>A (p.Arg2382=) |
single nucleotide variant |
not provided [RCV002721011] |
Chr10:71799202 [GRCh38] Chr10:73558959 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.351G>A (p.Lys117=) |
single nucleotide variant |
not provided [RCV002721274] |
Chr10:71511134 [GRCh38] Chr10:73270891 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5427_5428delinsTC (p.Asp1810His) |
indel |
not provided [RCV003047459] |
Chr10:71784345..71784346 [GRCh38] Chr10:73544102..73544103 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.237A>G (p.Ala79=) |
single nucleotide variant |
not provided [RCV002900230] |
Chr10:71510173 [GRCh38] Chr10:73269930 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9320-13del |
deletion |
not provided [RCV002581013] |
Chr10:71811940 [GRCh38] Chr10:73571697 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2358C>T (p.Asn786=) |
single nucleotide variant |
not provided [RCV003064023] |
Chr10:71695486 [GRCh38] Chr10:73455243 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9185T>A (p.Met3062Lys) |
single nucleotide variant |
not provided [RCV003091074] |
Chr10:71811422 [GRCh38] Chr10:73571179 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1634G>A (p.Gly545Asp) |
single nucleotide variant |
not provided [RCV002967291] |
Chr10:71677575 [GRCh38] Chr10:73437332 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9794G>C (p.Ser3265Thr) |
single nucleotide variant |
not provided [RCV003031878] |
Chr10:71815007 [GRCh38] Chr10:73574764 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2242G>A (p.Ala748Thr) |
single nucleotide variant |
not provided [RCV003065025] |
Chr10:71694212 [GRCh38] Chr10:73453969 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6622_6626del (p.Glu2208fs) |
deletion |
not provided [RCV002721200] |
Chr10:71793548..71793552 [GRCh38] Chr10:73553305..73553309 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.5883A>G (p.Lys1961=) |
single nucleotide variant |
not provided [RCV002791993] |
Chr10:71789002 [GRCh38] Chr10:73548759 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6916C>T (p.Leu2306=) |
single nucleotide variant |
not provided [RCV003045750] |
Chr10:71798440 [GRCh38] Chr10:73558197 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4786C>A (p.Arg1596Ser) |
single nucleotide variant |
not provided [RCV002716260] |
Chr10:71741862 [GRCh38] Chr10:73501619 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.862T>C (p.Tyr288His) |
single nucleotide variant |
Inborn genetic diseases [RCV002812393] |
Chr10:71615533 [GRCh38] Chr10:73375290 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7482+20G>A |
single nucleotide variant |
not provided [RCV002633066] |
Chr10:71800775 [GRCh38] Chr10:73560532 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1535C>T (p.Thr512Met) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475509]|not provided [RCV003091234] |
Chr10:71677476 [GRCh38] Chr10:73437233 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5686G>A (p.Glu1896Lys) |
single nucleotide variant |
not provided [RCV003065758] |
Chr10:71785074 [GRCh38] Chr10:73544831 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7810G>A (p.Val2604Ile) |
single nucleotide variant |
not provided [RCV003065030] |
Chr10:71803358 [GRCh38] Chr10:73563115 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6796G>A (p.Asp2266Asn) |
single nucleotide variant |
not provided [RCV003061452] |
Chr10:71797187 [GRCh38] Chr10:73556944 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5615A>G (p.His1872Arg) |
single nucleotide variant |
not provided [RCV003065417] |
Chr10:71785003 [GRCh38] Chr10:73544760 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5765A>G (p.Tyr1922Cys) |
single nucleotide variant |
not provided [RCV003065964] |
Chr10:71785683 [GRCh38] Chr10:73545440 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6743G>A (p.Arg2248Gln) |
single nucleotide variant |
not provided [RCV002602587] |
Chr10:71797134 [GRCh38] Chr10:73556891 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4180G>A (p.Gly1394Ser) |
single nucleotide variant |
not provided [RCV003062273] |
Chr10:71734315 [GRCh38] Chr10:73494072 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9073G>T (p.Asp3025Tyr) |
single nucleotide variant |
not provided [RCV002676103] |
Chr10:71810565 [GRCh38] Chr10:73570322 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9363C>T (p.Asn3121=) |
single nucleotide variant |
not provided [RCV002900482] |
Chr10:71811998 [GRCh38] Chr10:73571755 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9671G>A (p.Arg3224Gln) |
single nucleotide variant |
not provided [RCV003091852] |
Chr10:71813281 [GRCh38] Chr10:73573038 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8717C>G (p.Thr2906Ser) |
single nucleotide variant |
not provided [RCV003030337] |
Chr10:71808002 [GRCh38] Chr10:73567759 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.521C>G (p.Pro174Arg) |
single nucleotide variant |
not provided [RCV002632339] |
Chr10:71566833 [GRCh38] Chr10:73326590 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6499A>C (p.Ile2167Leu) |
single nucleotide variant |
not provided [RCV002650246] |
Chr10:71793427 [GRCh38] Chr10:73553184 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7087G>C (p.Glu2363Gln) |
single nucleotide variant |
not provided [RCV002812041] |
Chr10:71799143 [GRCh38] Chr10:73558900 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1793A>G (p.Tyr598Cys) |
single nucleotide variant |
not provided [RCV003091618] |
Chr10:71679427 [GRCh38] Chr10:73439184 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5821-7C>T |
single nucleotide variant |
not provided [RCV003030417] |
Chr10:71788933 [GRCh38] Chr10:73548690 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1891C>T (p.Gln631Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475438]|not provided [RCV002834991] |
Chr10:71682477 [GRCh38] Chr10:73442234 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.1827C>G (p.Tyr609Ter) |
single nucleotide variant |
not provided [RCV003029674] |
Chr10:71679461 [GRCh38] Chr10:73439218 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.9866C>T (p.Thr3289Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003091772]|not provided [RCV003091771] |
Chr10:71815079 [GRCh38] Chr10:73574836 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8255G>A (p.Gly2752Asp) |
single nucleotide variant |
not provided [RCV003030302] |
Chr10:71807353 [GRCh38] Chr10:73567110 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4246C>A (p.Pro1416Thr) |
single nucleotide variant |
not provided [RCV003048977] |
Chr10:71738534 [GRCh38] Chr10:73498291 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3430+11C>T |
single nucleotide variant |
not provided [RCV003091308] |
Chr10:71724116 [GRCh38] Chr10:73483873 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6013G>A (p.Ala2005Thr) |
single nucleotide variant |
not provided [RCV002602491] |
Chr10:71790377 [GRCh38] Chr10:73550134 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6057G>A (p.Val2019=) |
single nucleotide variant |
not provided [RCV003031561] |
Chr10:71791139 [GRCh38] Chr10:73550896 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.592A>G (p.Thr198Ala) |
single nucleotide variant |
not provided [RCV002715060] |
Chr10:71566904 [GRCh38] Chr10:73326661 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8585G>A (p.Gly2862Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002896490] |
Chr10:71807870 [GRCh38] Chr10:73567627 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6170T>C (p.Ile2057Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003011521]|not provided [RCV003011522] |
Chr10:71791252 [GRCh38] Chr10:73551009 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1225G>A (p.Ala409Thr) |
single nucleotide variant |
not provided [RCV002627690] |
Chr10:71645915 [GRCh38] Chr10:73405672 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.918C>T (p.Tyr306=) |
single nucleotide variant |
not provided [RCV002646626] |
Chr10:71615589 [GRCh38] Chr10:73375346 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8079C>T (p.Ala2693=) |
single nucleotide variant |
not provided [RCV002717293] |
Chr10:71806182 [GRCh38] Chr10:73565939 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9739-11G>A |
single nucleotide variant |
not provided [RCV003046818] |
Chr10:71814941 [GRCh38] Chr10:73574698 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6049+9T>A |
single nucleotide variant |
not provided [RCV003044568] |
Chr10:71790422 [GRCh38] Chr10:73550179 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8979+19C>T |
single nucleotide variant |
not provided [RCV003060140] |
Chr10:71810095 [GRCh38] Chr10:73569852 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6528C>T (p.Asn2176=) |
single nucleotide variant |
not provided [RCV003044816] |
Chr10:71793456 [GRCh38] Chr10:73553213 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.494del (p.Gly165fs) |
deletion |
not provided [RCV003045064] |
Chr10:71566802 [GRCh38] Chr10:73326559 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2575T>C (p.Ser859Pro) |
single nucleotide variant |
not provided [RCV002832826] |
Chr10:71702199 [GRCh38] Chr10:73461956 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3762del (p.Lys1255fs) |
deletion |
not provided [RCV002856186] |
Chr10:71732030 [GRCh38] Chr10:73491787 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8700T>C (p.Asp2900=) |
single nucleotide variant |
not provided [RCV002598444] |
Chr10:71807985 [GRCh38] Chr10:73567742 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.826G>A (p.Val276Ile) |
single nucleotide variant |
not provided [RCV002599324] |
Chr10:71577986 [GRCh38] Chr10:73337743 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2895G>C (p.Val965=) |
single nucleotide variant |
not provided [RCV002834033] |
Chr10:71705072 [GRCh38] Chr10:73464829 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9686T>C (p.Phe3229Ser) |
single nucleotide variant |
not provided [RCV002806693] |
Chr10:71813296 [GRCh38] Chr10:73573053 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9954C>G (p.Ala3318=) |
single nucleotide variant |
not provided [RCV003027632] |
Chr10:71815167 [GRCh38] Chr10:73574924 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2290-20C>T |
single nucleotide variant |
not provided [RCV002629689] |
Chr10:71695398 [GRCh38] Chr10:73455155 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7832_7833del (p.Phe2611fs) |
deletion |
not provided [RCV002834723] |
Chr10:71803379..71803380 [GRCh38] Chr10:73563136..73563137 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4408G>A (p.Val1470Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003170582]|not provided [RCV002937797] |
Chr10:71739692 [GRCh38] Chr10:73499449 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.1428G>A (p.Gly476=) |
single nucleotide variant |
not provided [RCV003061141] |
Chr10:71646596 [GRCh38] Chr10:73406353 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5923+8C>A |
single nucleotide variant |
not provided [RCV003028045] |
Chr10:71789050 [GRCh38] Chr10:73548807 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5566A>G (p.Met1856Val) |
single nucleotide variant |
not provided [RCV002630011] |
Chr10:71784954 [GRCh38] Chr10:73544711 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7006C>A (p.Leu2336Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002897893] |
Chr10:71798530 [GRCh38] Chr10:73558287 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4960C>T (p.Leu1654Phe) |
single nucleotide variant |
not provided [RCV003061444] |
Chr10:71777794 [GRCh38] Chr10:73537551 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9581A>T (p.Glu3194Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002936327] |
Chr10:71812838 [GRCh38] Chr10:73572595 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.288+6A>T |
single nucleotide variant |
not provided [RCV002962370] |
Chr10:71510230 [GRCh38] Chr10:73269987 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9279-7T>C |
single nucleotide variant |
not provided [RCV003087937] |
Chr10:71811706 [GRCh38] Chr10:73571463 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5468C>T (p.Ala1823Val) |
single nucleotide variant |
not provided [RCV003087939] |
Chr10:71784386 [GRCh38] Chr10:73544143 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5402del (p.Leu1801fs) |
deletion |
not provided [RCV002857677] |
Chr10:71784320 [GRCh38] Chr10:73544077 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.945+1G>C |
single nucleotide variant |
not provided [RCV002899408] |
Chr10:71615617 [GRCh38] Chr10:73375374 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7873-9T>A |
single nucleotide variant |
not provided [RCV003063122] |
Chr10:71805797 [GRCh38] Chr10:73565554 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6565C>T (p.Pro2189Ser) |
single nucleotide variant |
not provided [RCV002770201] |
Chr10:71793493 [GRCh38] Chr10:73553250 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9176C>T (p.Pro3059Leu) |
single nucleotide variant |
not provided [RCV003086844] |
Chr10:71811413 [GRCh38] Chr10:73571170 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.193dup (p.Leu65fs) |
duplication |
not provided [RCV003062270] |
Chr10:71510124..71510125 [GRCh38] Chr10:73269881..73269882 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3862C>T (p.Gln1288Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475492]|not provided [RCV003062272] |
Chr10:71732133 [GRCh38] Chr10:73491890 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3580-20C>G |
single nucleotide variant |
not provided [RCV002629857] |
Chr10:71730449 [GRCh38] Chr10:73490206 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.258G>A (p.Val86=) |
single nucleotide variant |
not provided [RCV003011492] |
Chr10:71510194 [GRCh38] Chr10:73269951 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3948C>T (p.Ala1316=) |
single nucleotide variant |
not provided [RCV003009843] |
Chr10:71732219 [GRCh38] Chr10:73491976 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.625-11C>G |
single nucleotide variant |
not provided [RCV003062866] |
Chr10:71570779 [GRCh38] Chr10:73330536 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7661-7C>T |
single nucleotide variant |
not provided [RCV002630632] |
Chr10:71803202 [GRCh38] Chr10:73562959 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1326C>T (p.Gly442=) |
single nucleotide variant |
not provided [RCV002877459] |
Chr10:71646494 [GRCh38] Chr10:73406251 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1604C>T (p.Ala535Val) |
single nucleotide variant |
not provided [RCV002715852] |
Chr10:71677545 [GRCh38] Chr10:73437302 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8299T>G (p.Phe2767Val) |
single nucleotide variant |
not provided [RCV002647750] |
Chr10:71807397 [GRCh38] Chr10:73567154 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3912C>T (p.Leu1304=) |
single nucleotide variant |
not provided [RCV003043821] |
Chr10:71732183 [GRCh38] Chr10:73491940 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4870A>G (p.Ile1624Val) |
single nucleotide variant |
not provided [RCV002833742] |
Chr10:71777704 [GRCh38] Chr10:73537461 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.114A>G (p.Thr38=) |
single nucleotide variant |
not provided [RCV002898740] |
Chr10:71446364 [GRCh38] Chr10:73206121 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9783A>T (p.Pro3261=) |
single nucleotide variant |
not provided [RCV002579125] |
Chr10:71814996 [GRCh38] Chr10:73574753 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3879C>T (p.Asn1293=) |
single nucleotide variant |
not provided [RCV002835046] |
Chr10:71732150 [GRCh38] Chr10:73491907 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4797C>G (p.Phe1599Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002580050]|not provided [RCV002580051] |
Chr10:71741873 [GRCh38] Chr10:73501630 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9507C>T (p.Thr3169=) |
single nucleotide variant |
not provided [RCV003029832] |
Chr10:71812606 [GRCh38] Chr10:73572363 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7845C>G (p.Pro2615=) |
single nucleotide variant |
not provided [RCV002856693] |
Chr10:71803393 [GRCh38] Chr10:73563150 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_001164375.3(C10orf105):c.*3278G>C |
single nucleotide variant |
not provided [RCV002898783] |
Chr10:71712658 [GRCh38] Chr10:73472415 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.129C>T (p.Ser43=) |
single nucleotide variant |
not provided [RCV002629842] |
Chr10:71446379 [GRCh38] Chr10:73206136 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7362+8G>C |
single nucleotide variant |
not provided [RCV002717030] |
Chr10:71799637 [GRCh38] Chr10:73559394 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7567C>T (p.Pro2523Ser) |
single nucleotide variant |
not provided [RCV003063462] |
Chr10:71802982 [GRCh38] Chr10:73562739 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8178+13A>C |
single nucleotide variant |
not provided [RCV003030682] |
Chr10:71806294 [GRCh38] Chr10:73566051 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7264C>T (p.Leu2422=) |
single nucleotide variant |
not provided [RCV002746806] |
Chr10:71799531 [GRCh38] Chr10:73559288 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8346T>A (p.Asp2782Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002792797] |
Chr10:71807553 [GRCh38] Chr10:73567310 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1703G>T (p.Gly568Val) |
single nucleotide variant |
not provided [RCV003063061] |
Chr10:71677644 [GRCh38] Chr10:73437401 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5480G>A (p.Gly1827Glu) |
single nucleotide variant |
not provided [RCV002746581] |
Chr10:71784398 [GRCh38] Chr10:73544155 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7183A>G (p.Ile2395Val) |
single nucleotide variant |
not provided [RCV002671394] |
Chr10:71799239 [GRCh38] Chr10:73558996 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5361C>G (p.Asp1787Glu) |
single nucleotide variant |
not provided [RCV002833870] |
Chr10:71779440 [GRCh38] Chr10:73539197 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2734-12C>T |
single nucleotide variant |
not provided [RCV002857803] |
Chr10:71704899 [GRCh38] Chr10:73464656 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2059+1G>T |
single nucleotide variant |
not provided [RCV002810098] |
Chr10:71687720 [GRCh38] Chr10:73447477 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6155C>T (p.Thr2052Met) |
single nucleotide variant |
not provided [RCV003063553] |
Chr10:71791237 [GRCh38] Chr10:73550994 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.268C>A (p.Arg90=) |
single nucleotide variant |
not provided [RCV002811350] |
Chr10:71510204 [GRCh38] Chr10:73269961 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5085C>T (p.Ala1695=) |
single nucleotide variant |
not provided [RCV002962796] |
Chr10:71778206 [GRCh38] Chr10:73537963 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8106C>A (p.Tyr2702Ter) |
single nucleotide variant |
not provided [RCV003011326] |
Chr10:71806209 [GRCh38] Chr10:73565966 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8944A>G (p.Ile2982Val) |
single nucleotide variant |
not provided [RCV002672278] |
Chr10:71810041 [GRCh38] Chr10:73569798 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5457G>A (p.Leu1819=) |
single nucleotide variant |
not provided [RCV002900103] |
Chr10:71784375 [GRCh38] Chr10:73544132 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7248T>G (p.Pro2416=) |
single nucleotide variant |
not provided [RCV002811091] |
Chr10:71799515 [GRCh38] Chr10:73559272 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7224+10C>G |
single nucleotide variant |
not provided [RCV003027751] |
Chr10:71799290 [GRCh38] Chr10:73559047 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.346C>G (p.Arg116Gly) |
single nucleotide variant |
not provided [RCV002578510] |
Chr10:71511129 [GRCh38] Chr10:73270886 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1616G>A (p.Gly539Asp) |
single nucleotide variant |
not provided [RCV003062271] |
Chr10:71677557 [GRCh38] Chr10:73437314 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4359+8A>G |
single nucleotide variant |
not provided [RCV002810179] |
Chr10:71738655 [GRCh38] Chr10:73498412 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3740G>A (p.Arg1247His) |
single nucleotide variant |
not provided [RCV002628351] |
Chr10:71732011 [GRCh38] Chr10:73491768 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5713-15C>T |
single nucleotide variant |
not provided [RCV002832762] |
Chr10:71785616 [GRCh38] Chr10:73545373 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2177-14del |
deletion |
not provided [RCV002835291] |
Chr10:71694132 [GRCh38] Chr10:73453889 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8839G>A (p.Gly2947Ser) |
single nucleotide variant |
not provided [RCV003060464] |
Chr10:71809936 [GRCh38] Chr10:73569693 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6439A>G (p.Thr2147Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002935811] |
Chr10:71793367 [GRCh38] Chr10:73553124 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7097A>G (p.His2366Arg) |
single nucleotide variant |
not provided [RCV003059962] |
Chr10:71799153 [GRCh38] Chr10:73558910 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.762G>T (p.Thr254=) |
single nucleotide variant |
not provided [RCV002835228] |
Chr10:71577922 [GRCh38] Chr10:73337679 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3715+13G>A |
single nucleotide variant |
not provided [RCV003064197] |
Chr10:71730617 [GRCh38] Chr10:73490374 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1977C>T (p.Ile659=) |
single nucleotide variant |
not provided [RCV003030857] |
Chr10:71682563 [GRCh38] Chr10:73442320 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9859G>A (p.Gly3287Ser) |
single nucleotide variant |
not provided [RCV002962177] |
Chr10:71815072 [GRCh38] Chr10:73574829 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6007C>G (p.Leu2003Val) |
single nucleotide variant |
not provided [RCV003029405] |
Chr10:71790371 [GRCh38] Chr10:73550128 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.625-7_625-4del |
microsatellite |
not provided [RCV002835288] |
Chr10:71570781..71570784 [GRCh38] Chr10:73330538..73330541 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1582C>T (p.Arg528Cys) |
single nucleotide variant |
not provided [RCV002632632] |
Chr10:71677523 [GRCh38] Chr10:73437280 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8916G>C (p.Glu2972Asp) |
single nucleotide variant |
not provided [RCV002770935] |
Chr10:71810013 [GRCh38] Chr10:73569770 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9278+13C>G |
single nucleotide variant |
not provided [RCV002811183] |
Chr10:71811603 [GRCh38] Chr10:73571360 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2612C>G (p.Thr871Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002939511]|not provided [RCV003108195] |
Chr10:71702573 [GRCh38] Chr10:73462330 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.408C>T (p.Pro136=) |
single nucleotide variant |
not provided [RCV002720023] |
Chr10:71511191 [GRCh38] Chr10:73270948 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9728C>T (p.Ser3243Phe) |
single nucleotide variant |
not provided [RCV002632315] |
Chr10:71813338 [GRCh38] Chr10:73573095 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6004C>A (p.Leu2002Met) |
single nucleotide variant |
not provided [RCV003086233] |
Chr10:71790368 [GRCh38] Chr10:73550125 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.96C>T (p.Thr32=) |
single nucleotide variant |
not provided [RCV003009853] |
Chr10:71446346 [GRCh38] Chr10:73206103 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5187+4G>T |
single nucleotide variant |
not provided [RCV002598637] |
Chr10:71778312 [GRCh38] Chr10:73538069 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.429+12_429+13inv |
inversion |
not provided [RCV002650731] |
Chr10:71511224..71511225 [GRCh38] Chr10:73270981..73270982 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7511A>G (p.Asp2504Gly) |
single nucleotide variant |
not provided [RCV003026420] |
Chr10:71802926 [GRCh38] Chr10:73562683 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8377C>T (p.Arg2793Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV003155514]|not provided [RCV003087390] |
Chr10:71807584 [GRCh38] Chr10:73567341 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.8009G>T (p.Ser2670Ile) |
single nucleotide variant |
not provided [RCV002631459] |
Chr10:71805942 [GRCh38] Chr10:73565699 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7465C>T (p.Arg2489Cys) |
single nucleotide variant |
not provided [RCV003087719] |
Chr10:71800738 [GRCh38] Chr10:73560495 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2951A>G (p.His984Arg) |
single nucleotide variant |
not provided [RCV002629387] |
Chr10:71705128 [GRCh38] Chr10:73464885 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2956_2967del (p.Leu986_Asn989del) |
deletion |
not provided [RCV002857719] |
Chr10:71706899..71706910 [GRCh38] Chr10:73466656..73466667 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1752+6_1752+10dup |
duplication |
not provided [RCV003026975] |
Chr10:71677698..71677699 [GRCh38] Chr10:73437455..73437456 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1054G>A (p.Glu352Lys) |
single nucleotide variant |
not provided [RCV003086776] |
Chr10:71617313 [GRCh38] Chr10:73377070 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6684G>A (p.Glu2228=) |
single nucleotide variant |
not provided [RCV002715600] |
Chr10:71793612 [GRCh38] Chr10:73553369 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5920G>A (p.Ala1974Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003088108]|not provided [RCV003088107] |
Chr10:71789039 [GRCh38] Chr10:73548796 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2056G>A (p.Ala686Thr) |
single nucleotide variant |
not provided [RCV002810494] |
Chr10:71687716 [GRCh38] Chr10:73447473 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3220+15C>A |
single nucleotide variant |
not provided [RCV002877142] |
Chr10:71709226 [GRCh38] Chr10:73468983 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4426A>G (p.Ile1476Val) |
single nucleotide variant |
not provided [RCV002577801] |
Chr10:71739710 [GRCh38] Chr10:73499467 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5247G>A (p.Glu1749=) |
single nucleotide variant |
not provided [RCV003065804] |
Chr10:71779326 [GRCh38] Chr10:73539083 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3483A>G (p.Arg1161=) |
single nucleotide variant |
not provided [RCV003045749] |
Chr10:71725424 [GRCh38] Chr10:73485181 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3633G>T (p.Gln1211His) |
single nucleotide variant |
Inborn genetic diseases [RCV003269463]|not provided [RCV002579238] |
Chr10:71730522 [GRCh38] Chr10:73490279 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2269C>T (p.Gln757Ter) |
single nucleotide variant |
not provided [RCV002832915] |
Chr10:71694239 [GRCh38] Chr10:73453996 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.810C>G (p.Gly270=) |
single nucleotide variant |
not provided [RCV003047108] |
Chr10:71577970 [GRCh38] Chr10:73337727 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3053A>G (p.Asn1018Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002675638]|not provided [RCV002653570] |
Chr10:71706996 [GRCh38] Chr10:73466753 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4206+3G>A |
single nucleotide variant |
not provided [RCV002676052] |
Chr10:71734344 [GRCh38] Chr10:73494101 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2954-18G>T |
single nucleotide variant |
not provided [RCV003086405] |
Chr10:71706879 [GRCh38] Chr10:73466636 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7686G>A (p.Ser2562=) |
single nucleotide variant |
not provided [RCV003061157] |
Chr10:71803234 [GRCh38] Chr10:73562991 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7197C>A (p.Asn2399Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002809356] |
Chr10:71799253 [GRCh38] Chr10:73559010 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.67+10G>T |
single nucleotide variant |
not provided [RCV003030959] |
Chr10:71439908 [GRCh38] Chr10:73199665 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9820G>A (p.Val3274Met) |
single nucleotide variant |
not provided [RCV002599884] |
Chr10:71815033 [GRCh38] Chr10:73574790 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9261C>G (p.Asn3087Lys) |
single nucleotide variant |
not provided [RCV003047560] |
Chr10:71811573 [GRCh38] Chr10:73571330 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9278+12C>A |
single nucleotide variant |
not provided [RCV002632753] |
Chr10:71811602 [GRCh38] Chr10:73571359 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3135G>C (p.Val1045=) |
single nucleotide variant |
not provided [RCV003047987] |
Chr10:71709126 [GRCh38] Chr10:73468883 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4072G>A (p.Ala1358Thr) |
single nucleotide variant |
not provided [RCV003091909] |
Chr10:71732343 [GRCh38] Chr10:73492100 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475493]|not provided [RCV003062274] |
Chr10:71778222 [GRCh38] Chr10:73537979 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6829+6G>A |
single nucleotide variant |
not provided [RCV003060979] |
Chr10:71797226 [GRCh38] Chr10:73556983 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9713C>T (p.Ser3238Phe) |
single nucleotide variant |
not provided [RCV003087927] |
Chr10:71813323 [GRCh38] Chr10:73573080 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1656G>A (p.Leu552=) |
single nucleotide variant |
not provided [RCV002810281] |
Chr10:71677597 [GRCh38] Chr10:73437354 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4217T>A (p.Ile1406Asn) |
single nucleotide variant |
not provided [RCV002811487] |
Chr10:71738505 [GRCh38] Chr10:73498262 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7885C>T (p.Arg2629Cys) |
single nucleotide variant |
not provided [RCV002714800] |
Chr10:71805818 [GRCh38] Chr10:73565575 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6974dup (p.Leu2327fs) |
duplication |
not provided [RCV002810750] |
Chr10:71798496..71798497 [GRCh38] Chr10:73558253..73558254 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2733+8T>C |
single nucleotide variant |
not provided [RCV002811142] |
Chr10:71702702 [GRCh38] Chr10:73462459 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7672G>T (p.Val2558Leu) |
single nucleotide variant |
not provided [RCV002597529] |
Chr10:71803220 [GRCh38] Chr10:73562977 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2841G>T (p.Val947=) |
single nucleotide variant |
not provided [RCV002598352] |
Chr10:71705018 [GRCh38] Chr10:73464775 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6033C>T (p.Asp2011=) |
single nucleotide variant |
not provided [RCV003010117] |
Chr10:71790397 [GRCh38] Chr10:73550154 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9319+3_9319+6del |
deletion |
not provided [RCV003067670] |
Chr10:71811754..71811757 [GRCh38] Chr10:73571511..73571514 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5067+13T>C |
single nucleotide variant |
not provided [RCV003092866] |
Chr10:71777914 [GRCh38] Chr10:73537671 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9077G>A (p.Arg3026Gln) |
single nucleotide variant |
not provided [RCV002943763] |
Chr10:71810569 [GRCh38] Chr10:73570326 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6733C>T (p.Pro2245Ser) |
single nucleotide variant |
not provided [RCV003066795] |
Chr10:71797124 [GRCh38] Chr10:73556881 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2953+11G>A |
single nucleotide variant |
not provided [RCV002634055] |
Chr10:71705141 [GRCh38] Chr10:73464898 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3353G>T (p.Gly1118Val) |
single nucleotide variant |
not provided [RCV003092201] |
Chr10:71712797 [GRCh38] Chr10:73472554 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.205G>T (p.Val69Leu) |
single nucleotide variant |
not provided [RCV002635662] |
Chr10:71510141 [GRCh38] Chr10:73269898 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2396C>T (p.Thr799Met) |
single nucleotide variant |
not provided [RCV003092362] |
Chr10:71695524 [GRCh38] Chr10:73455281 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9511-10C>G |
single nucleotide variant |
not provided [RCV002604281] |
Chr10:71812758 [GRCh38] Chr10:73572515 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3327C>T (p.Ala1109=) |
single nucleotide variant |
not provided [RCV002605353] |
Chr10:71712771 [GRCh38] Chr10:73472528 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1736A>T (p.Gln579Leu) |
single nucleotide variant |
not provided [RCV002657991] |
Chr10:71677677 [GRCh38] Chr10:73437434 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5641G>A (p.Gly1881Ser) |
single nucleotide variant |
not provided [RCV002582990] |
Chr10:71785029 [GRCh38] Chr10:73544786 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9836C>T (p.Pro3279Leu) |
single nucleotide variant |
not provided [RCV002584184] |
Chr10:71815049 [GRCh38] Chr10:73574806 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6847G>C (p.Val2283Leu) |
single nucleotide variant |
not provided [RCV003052317] |
Chr10:71798371 [GRCh38] Chr10:73558128 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5928C>T (p.Thr1976=) |
single nucleotide variant |
not provided [RCV002654293] |
Chr10:71790292 [GRCh38] Chr10:73550049 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2060-17C>T |
single nucleotide variant |
not provided [RCV002606458] |
Chr10:71690451 [GRCh38] Chr10:73450208 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5147A>T (p.Gln1716Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002657218] |
Chr10:71778268 [GRCh38] Chr10:73538025 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6066G>T (p.Arg2022Ser) |
single nucleotide variant |
not provided [RCV002604741] |
Chr10:71791148 [GRCh38] Chr10:73550905 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5654G>A (p.Arg1885His) |
single nucleotide variant |
not provided [RCV002603325] |
Chr10:71785042 [GRCh38] Chr10:73544799 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.826G>C (p.Val276Leu) |
single nucleotide variant |
not provided [RCV002583114] |
Chr10:71577986 [GRCh38] Chr10:73337743 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7886G>A (p.Arg2629His) |
single nucleotide variant |
not provided [RCV002654170] |
Chr10:71805819 [GRCh38] Chr10:73565576 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4105-10T>C |
single nucleotide variant |
not provided [RCV002814489] |
Chr10:71734230 [GRCh38] Chr10:73493987 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9319+18del |
deletion |
not provided [RCV003069535] |
Chr10:71811771 [GRCh38] Chr10:73571528 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4215C>T (p.Tyr1405=) |
single nucleotide variant |
not provided [RCV003092713] |
Chr10:71738503 [GRCh38] Chr10:73498260 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9209T>A (p.Ile3070Asn) |
single nucleotide variant |
not provided [RCV002942584] |
Chr10:71811521 [GRCh38] Chr10:73571278 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.145+19T>C |
single nucleotide variant |
not provided [RCV003068857] |
Chr10:71446414 [GRCh38] Chr10:73206171 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1135-2A>C |
single nucleotide variant |
not provided [RCV003069101] |
Chr10:71643859 [GRCh38] Chr10:73403616 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.9494G>C (p.Ser3165Thr) |
single nucleotide variant |
not provided [RCV002604696] |
Chr10:71812593 [GRCh38] Chr10:73572350 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8710G>C (p.Val2904Leu) |
single nucleotide variant |
not provided [RCV002634540] |
Chr10:71807995 [GRCh38] Chr10:73567752 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4846-10T>C |
single nucleotide variant |
not provided [RCV003049549] |
Chr10:71777670 [GRCh38] Chr10:73537427 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9148G>A (p.Val3050Met) |
single nucleotide variant |
not provided [RCV003066797] |
Chr10:71811385 [GRCh38] Chr10:73571142 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3778G>A (p.Glu1260Lys) |
single nucleotide variant |
not provided [RCV003068989] |
Chr10:71732049 [GRCh38] Chr10:73491806 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4359+18A>C |
single nucleotide variant |
not provided [RCV002657867] |
Chr10:71738665 [GRCh38] Chr10:73498422 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1944C>A (p.Asn648Lys) |
single nucleotide variant |
not provided [RCV003050765] |
Chr10:71682530 [GRCh38] Chr10:73442287 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4279A>G (p.Ser1427Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003274201]|not provided [RCV003067485] |
Chr10:71738567 [GRCh38] Chr10:73498324 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4324A>C (p.Lys1442Gln) |
single nucleotide variant |
not provided [RCV003093602] |
Chr10:71738612 [GRCh38] Chr10:73498369 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7482+8G>T |
single nucleotide variant |
not provided [RCV002605511] |
Chr10:71800763 [GRCh38] Chr10:73560520 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4689G>C (p.Leu1563=) |
single nucleotide variant |
not provided [RCV002609254] |
Chr10:71741765 [GRCh38] Chr10:73501522 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1141-18T>G |
single nucleotide variant |
not provided [RCV002609575] |
Chr10:71645813 [GRCh38] Chr10:73405570 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.288+9T>C |
single nucleotide variant |
not provided [RCV003071581] |
Chr10:71510233 [GRCh38] Chr10:73269990 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8842A>G (p.Ile2948Val) |
single nucleotide variant |
not provided [RCV003068511] |
Chr10:71809939 [GRCh38] Chr10:73569696 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6493G>A (p.Asp2165Asn) |
single nucleotide variant |
not provided [RCV002585005] |
Chr10:71793421 [GRCh38] Chr10:73553178 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7122C>T (p.Ala2374=) |
single nucleotide variant |
not provided [RCV003070408] |
Chr10:71799178 [GRCh38] Chr10:73558935 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4891G>A (p.Ala1631Thr) |
single nucleotide variant |
not provided [RCV003071686] |
Chr10:71777725 [GRCh38] Chr10:73537482 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6856G>T (p.Val2286Phe) |
single nucleotide variant |
not provided [RCV002609789] |
Chr10:71798380 [GRCh38] Chr10:73558137 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3750G>A (p.Ser1250=) |
single nucleotide variant |
not provided [RCV003051063] |
Chr10:71732021 [GRCh38] Chr10:73491778 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9766C>T (p.Pro3256Ser) |
single nucleotide variant |
not provided [RCV002586912] |
Chr10:71814979 [GRCh38] Chr10:73574736 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1873C>T (p.Arg625Cys) |
single nucleotide variant |
not provided [RCV003066508] |
Chr10:71682459 [GRCh38] Chr10:73442216 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1449+5G>A |
single nucleotide variant |
not provided [RCV003073022] |
Chr10:71646622 [GRCh38] Chr10:73406379 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7591A>G (p.Met2531Val) |
single nucleotide variant |
not provided [RCV003071921] |
Chr10:71803006 [GRCh38] Chr10:73562763 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8560+16C>G |
single nucleotide variant |
not provided [RCV002610111] |
Chr10:71807783 [GRCh38] Chr10:73567540 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6025C>T (p.Leu2009Phe) |
single nucleotide variant |
not provided [RCV003068791] |
Chr10:71790389 [GRCh38] Chr10:73550146 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7551C>A (p.Ser2517Arg) |
single nucleotide variant |
not provided [RCV002721848] |
Chr10:71802966 [GRCh38] Chr10:73562723 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.591C>A (p.Thr197=) |
single nucleotide variant |
not provided [RCV003067941] |
Chr10:71566903 [GRCh38] Chr10:73326660 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1514+18_1514+19delinsTT |
indel |
not provided [RCV003052696] |
Chr10:71675194..71675195 [GRCh38] Chr10:73434951..73434952 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1646T>C (p.Ile549Thr) |
single nucleotide variant |
not provided [RCV003070896] |
Chr10:71677587 [GRCh38] Chr10:73437344 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3170G>A (p.Gly1057Asp) |
single nucleotide variant |
not provided [RCV002589964] |
Chr10:71709161 [GRCh38] Chr10:73468918 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2939C>G (p.Thr980Arg) |
single nucleotide variant |
not provided [RCV002585342] |
Chr10:71705116 [GRCh38] Chr10:73464873 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2784C>T (p.Arg928=) |
single nucleotide variant |
not provided [RCV002606044] |
Chr10:71704961 [GRCh38] Chr10:73464718 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5043C>T (p.Asn1681=) |
single nucleotide variant |
not provided [RCV002608820] |
Chr10:71777877 [GRCh38] Chr10:73537634 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4531C>G (p.His1511Asp) |
single nucleotide variant |
not provided [RCV002610490] |
Chr10:71740864 [GRCh38] Chr10:73500621 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3030C>T (p.Arg1010=) |
single nucleotide variant |
not provided [RCV003066750] |
Chr10:71706973 [GRCh38] Chr10:73466730 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3471G>A (p.Gly1157=) |
single nucleotide variant |
not provided [RCV003073339] |
Chr10:71725412 [GRCh38] Chr10:73485169 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8305G>A (p.Ala2769Thr) |
single nucleotide variant |
not provided [RCV002587341] |
Chr10:71807403 [GRCh38] Chr10:73567160 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7909G>A (p.Ala2637Thr) |
single nucleotide variant |
not provided [RCV003073434] |
Chr10:71805842 [GRCh38] Chr10:73565599 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1319A>G (p.His440Arg) |
single nucleotide variant |
not provided [RCV003066176] |
Chr10:71646487 [GRCh38] Chr10:73406244 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8675G>A (p.Arg2892Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003377849]|not provided [RCV003050764] |
Chr10:71807960 [GRCh38] Chr10:73567717 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7072C>T (p.Arg2358Trp) |
single nucleotide variant |
not provided [RCV002588386] |
Chr10:71799128 [GRCh38] Chr10:73558885 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6993C>G (p.Val2331=) |
single nucleotide variant |
not provided [RCV003050222] |
Chr10:71798517 [GRCh38] Chr10:73558274 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7977G>C (p.Arg2659=) |
single nucleotide variant |
not provided [RCV002584738] |
Chr10:71805910 [GRCh38] Chr10:73565667 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1720G>A (p.Glu574Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003294478]|not provided [RCV003069974] |
Chr10:71677661 [GRCh38] Chr10:73437418 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8516T>C (p.Ile2839Thr) |
single nucleotide variant |
not provided [RCV003072431] |
Chr10:71807723 [GRCh38] Chr10:73567480 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4135C>T (p.Arg1379Cys) |
single nucleotide variant |
not provided [RCV002588419] |
Chr10:71734270 [GRCh38] Chr10:73494027 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3121G>A (p.Gly1041Arg) |
single nucleotide variant |
not provided [RCV002583548] |
Chr10:71709112 [GRCh38] Chr10:73468869 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4359+12A>G |
single nucleotide variant |
not provided [RCV003067643] |
Chr10:71738659 [GRCh38] Chr10:73498416 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9502C>T (p.Arg3168Cys) |
single nucleotide variant |
not provided [RCV002603224] |
Chr10:71812601 [GRCh38] Chr10:73572358 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5511G>A (p.Val1837=) |
single nucleotide variant |
not provided [RCV003049809] |
Chr10:71784899 [GRCh38] Chr10:73544656 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9169C>T (p.Arg3057Trp) |
single nucleotide variant |
not provided [RCV002584908] |
Chr10:71811406 [GRCh38] Chr10:73571163 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8920_8921delinsTT (p.Glu2974Leu) |
indel |
not provided [RCV003067671] |
Chr10:71810017..71810018 [GRCh38] Chr10:73569774..73569775 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4329C>T (p.Ala1443=) |
single nucleotide variant |
not provided [RCV003071455] |
Chr10:71738617 [GRCh38] Chr10:73498374 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9859G>C (p.Gly3287Arg) |
single nucleotide variant |
not provided [RCV002588600] |
Chr10:71815072 [GRCh38] Chr10:73574829 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.243G>A (p.Glu81=) |
single nucleotide variant |
not provided [RCV002609224] |
Chr10:71510179 [GRCh38] Chr10:73269936 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7444G>A (p.Gly2482Arg) |
single nucleotide variant |
not provided [RCV003067902] |
Chr10:71800717 [GRCh38] Chr10:73560474 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3369+9_3369+31dup |
duplication |
not provided [RCV002586785] |
Chr10:71712812..71712813 [GRCh38] Chr10:73472569..73472570 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9634-10C>T |
single nucleotide variant |
not provided [RCV002611240] |
Chr10:71813234 [GRCh38] Chr10:73572991 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7277C>A (p.Ala2426Asp) |
single nucleotide variant |
not provided [RCV002814653] |
Chr10:71799544 [GRCh38] Chr10:73559301 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.475C>T (p.Pro159Ser) |
single nucleotide variant |
not provided [RCV002657896] |
Chr10:71566787 [GRCh38] Chr10:73326544 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3509G>A (p.Arg1170Gln) |
single nucleotide variant |
not provided [RCV003066794] |
Chr10:71725450 [GRCh38] Chr10:73485207 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8561-19C>T |
single nucleotide variant |
not provided [RCV003069782] |
Chr10:71807827 [GRCh38] Chr10:73567584 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7615G>A (p.Gly2539Ser) |
single nucleotide variant |
not provided [RCV002589116] |
Chr10:71803030 [GRCh38] Chr10:73562787 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8979+8A>G |
single nucleotide variant |
not provided [RCV002722095] |
Chr10:71810084 [GRCh38] Chr10:73569841 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8000A>G (p.Asp2667Gly) |
single nucleotide variant |
not provided [RCV002589300] |
Chr10:71805933 [GRCh38] Chr10:73565690 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8704G>A (p.Gly2902Ser) |
single nucleotide variant |
not provided [RCV003068381] |
Chr10:71807989 [GRCh38] Chr10:73567746 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3136G>A (p.Gly1046Ser) |
single nucleotide variant |
not provided [RCV002611854] |
Chr10:71709127 [GRCh38] Chr10:73468884 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.611C>T (p.Thr204Met) |
single nucleotide variant |
not provided [RCV002654831] |
Chr10:71566923 [GRCh38] Chr10:73326680 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_001164375.3(C10orf105):c.170C>T (p.Thr57Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002678593] |
Chr10:71716168 [GRCh38] Chr10:73475925 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7622A>G (p.Asn2541Ser) |
single nucleotide variant |
not provided [RCV003070171] |
Chr10:71803037 [GRCh38] Chr10:73562794 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5503-16_5503-14del |
deletion |
not provided [RCV002585769] |
Chr10:71784873..71784875 [GRCh38] Chr10:73544630..73544632 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6932C>G (p.Pro2311Arg) |
single nucleotide variant |
not provided [RCV002611983] |
Chr10:71798456 [GRCh38] Chr10:73558213 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9077+3G>A |
single nucleotide variant |
not provided [RCV002585797] |
Chr10:71810572 [GRCh38] Chr10:73570329 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9687T>G (p.Phe3229Leu) |
single nucleotide variant |
not provided [RCV003072694] |
Chr10:71813297 [GRCh38] Chr10:73573054 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7956C>T (p.Phe2652=) |
single nucleotide variant |
not provided [RCV002612154] |
Chr10:71805889 [GRCh38] Chr10:73565646 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6001C>A (p.Gln2001Lys) |
single nucleotide variant |
not provided [RCV003067264] |
Chr10:71790365 [GRCh38] Chr10:73550122 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1924A>T (p.Met642Leu) |
single nucleotide variant |
not provided [RCV003067271] |
Chr10:71682510 [GRCh38] Chr10:73442267 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6464C>T (p.Ser2155Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002606630]|not provided [RCV002606631] |
Chr10:71793392 [GRCh38] Chr10:73553149 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2839G>T (p.Val947Leu) |
single nucleotide variant |
not provided [RCV002612198] |
Chr10:71705016 [GRCh38] Chr10:73464773 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8905C>T (p.Arg2969Cys) |
single nucleotide variant |
not provided [RCV002589851] |
Chr10:71810002 [GRCh38] Chr10:73569759 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.492G>A (p.Gly164=) |
single nucleotide variant |
not provided [RCV003073065] |
Chr10:71566804 [GRCh38] Chr10:73326561 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4547C>T (p.Thr1516Ile) |
single nucleotide variant |
not provided [RCV003073105] |
Chr10:71740880 [GRCh38] Chr10:73500637 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7315T>A (p.Tyr2439Asn) |
single nucleotide variant |
not provided [RCV002942280] |
Chr10:71799582 [GRCh38] Chr10:73559339 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4272G>A (p.Ser1424=) |
single nucleotide variant |
not provided [RCV003071060] |
Chr10:71738560 [GRCh38] Chr10:73498317 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8179-16C>A |
single nucleotide variant |
not provided [RCV003071068] |
Chr10:71807261 [GRCh38] Chr10:73567018 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3106+20C>T |
single nucleotide variant |
not provided [RCV003073411] |
Chr10:71707069 [GRCh38] Chr10:73466826 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.443G>A (p.Gly148Glu) |
single nucleotide variant |
not provided [RCV002612744] |
Chr10:71566755 [GRCh38] Chr10:73326512 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6965A>T (p.Asp2322Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV003155559] |
Chr10:71798489 [GRCh38] Chr10:73558246 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.9278+2T>A |
single nucleotide variant |
Usher syndrome [RCV003155611] |
Chr10:71811592 [GRCh38] Chr10:73571349 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7826C>T (p.Pro2609Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV003155560] |
Chr10:71803374 [GRCh38] Chr10:73563131 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.5959G>A (p.Ala1987Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003211576] |
Chr10:71790323 [GRCh38] Chr10:73550080 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.474C>A (p.Asp158Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003377941]|not provided [RCV003227338] |
Chr10:71566786 [GRCh38] Chr10:73326543 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8464dup (p.Asp2822fs) |
duplication |
not provided [RCV003229243] |
Chr10:71807670..71807671 [GRCh38] Chr10:73567427..73567428 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.9128G>A (p.Arg3043Gln) |
single nucleotide variant |
not provided [RCV003219079] |
Chr10:71811365 [GRCh38] Chr10:73571122 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg) |
single nucleotide variant |
Usher syndrome [RCV003226842]|not provided [RCV003481472] |
Chr10:71645842 [GRCh38] Chr10:73405599 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.3484G>A (p.Gly1162Arg) |
single nucleotide variant |
not provided [RCV003144764] |
Chr10:71725425 [GRCh38] Chr10:73485182 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8089G>A (p.Gly2697Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003206144] |
Chr10:71806192 [GRCh38] Chr10:73565949 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8336T>C (p.Leu2779Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003206542] |
Chr10:71807543 [GRCh38] Chr10:73567300 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1154T>C (p.Met385Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003197990] |
Chr10:71645844 [GRCh38] Chr10:73405601 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.7712T>C (p.Leu2571Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV003140413] |
Chr10:71803260 [GRCh38] Chr10:73563017 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.2936G>A (p.Ser979Asn) |
single nucleotide variant |
not provided [RCV003221632] |
Chr10:71705113 [GRCh38] Chr10:73464870 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5048T>C (p.Phe1683Ser) |
single nucleotide variant |
not provided [RCV003221732] |
Chr10:71777882 [GRCh38] Chr10:73537639 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.5728G>C (p.Val1910Leu) |
single nucleotide variant |
not provided [RCV003318770] |
Chr10:71785646 [GRCh38] Chr10:73545403 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) |
copy number gain |
Distal trisomy 10q [RCV003319593] |
Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3 |
pathogenic |
NM_022124.6(CDH23):c.5067+1G>A |
single nucleotide variant |
Usher syndrome [RCV003324223] |
Chr10:71777902 [GRCh38] Chr10:73537659 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.289-1G>A |
single nucleotide variant |
not provided [RCV003326791] |
Chr10:71510953 [GRCh38] Chr10:73270710 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.5131G>T (p.Val1711Phe) |
single nucleotide variant |
not provided [RCV003326792] |
Chr10:71778252 [GRCh38] Chr10:73538009 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1106T>C (p.Leu369Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV003340817] |
Chr10:71617365 [GRCh38] Chr10:73377122 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.280G>C (p.Asp94His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV003340818] |
Chr10:71510216 [GRCh38] Chr10:73269973 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3796A>G (p.Ile1266Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003364702] |
Chr10:71732067 [GRCh38] Chr10:73491824 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6656A>T (p.Asp2219Val) |
single nucleotide variant |
not specified [RCV003330471] |
Chr10:71793584 [GRCh38] Chr10:73553341 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.139C>T (p.Pro47Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003381629] |
Chr10:71446389 [GRCh38] Chr10:73206146 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.763G>A (p.Val255Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003379253] |
Chr10:71577923 [GRCh38] Chr10:73337680 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6713-19G>T |
single nucleotide variant |
not provided [RCV003571738] |
Chr10:71797085 [GRCh38] Chr10:73556842 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7568del (p.Pro2523fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474504] |
Chr10:71802982 [GRCh38] Chr10:73562739 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7258del (p.Ile2420fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474519] |
Chr10:71799524 [GRCh38] Chr10:73559281 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.5534A>G (p.Asn1845Ser) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474483] |
Chr10:71784922 [GRCh38] Chr10:73544679 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7101G>A (p.Trp2367Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474486] |
Chr10:71799157 [GRCh38] Chr10:73558914 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.5277_5283del (p.Gly1760fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474497] |
Chr10:71779354..71779360 [GRCh38] Chr10:73539111..73539117 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6676_6677insTT (p.Asn2226fs) |
insertion |
Pituitary adenoma 5, multiple types [RCV003474510] |
Chr10:71793604..71793605 [GRCh38] Chr10:73553361..73553362 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7624_7630del (p.Asn2541_Gly2542insTer) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474515] |
Chr10:71803038..71803044 [GRCh38] Chr10:73562795..73562801 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2397+1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474517] |
Chr10:71695526 [GRCh38] Chr10:73455283 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.1859-2A>G |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474541] |
Chr10:71682443 [GRCh38] Chr10:73442200 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.5188-1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474548] |
Chr10:71779266 [GRCh38] Chr10:73539023 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2953+1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475616] |
Chr10:71705131 [GRCh38] Chr10:73464888 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.5369-4C>G |
single nucleotide variant |
not provided [RCV003569282] |
Chr10:71784283 [GRCh38] Chr10:73544040 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7873-1G>A |
single nucleotide variant |
not provided [RCV003542977] |
Chr10:71805805 [GRCh38] Chr10:73565562 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3430+19G>T |
single nucleotide variant |
not provided [RCV003726067] |
Chr10:71724124 [GRCh38] Chr10:73483881 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1065G>C (p.Val355=) |
single nucleotide variant |
not provided [RCV003569453] |
Chr10:71617324 [GRCh38] Chr10:73377081 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7695G>A (p.Val2565=) |
single nucleotide variant |
not provided [RCV003569551] |
Chr10:71803243 [GRCh38] Chr10:73563000 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2176+19A>C |
single nucleotide variant |
not provided [RCV003569585] |
Chr10:71690603 [GRCh38] Chr10:73450360 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4209+1G>A |
single nucleotide variant |
not provided [RCV003710691] |
Chr10:71734659 [GRCh38] Chr10:73494416 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.5369-8A>T |
single nucleotide variant |
not provided [RCV003569545] |
Chr10:71784279 [GRCh38] Chr10:73544036 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4839C>T (p.Thr1613=) |
single nucleotide variant |
not provided [RCV003543082] |
Chr10:71741915 [GRCh38] Chr10:73501672 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4206+12C>G |
single nucleotide variant |
not provided [RCV003712892] |
Chr10:71734353 [GRCh38] Chr10:73494110 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5502+2T>G |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474506] |
Chr10:71784422 [GRCh38] Chr10:73544179 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6377delinsCGT (p.Arg2126fs) |
indel |
Pituitary adenoma 5, multiple types [RCV003474481] |
Chr10:71793305 [GRCh38] Chr10:73553062 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4720_4721del (p.Met1574fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474545] |
Chr10:71741796..71741797 [GRCh38] Chr10:73501553..73501554 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7875G>A (p.Glu2625=) |
single nucleotide variant |
not provided [RCV003571439] |
Chr10:71805808 [GRCh38] Chr10:73565565 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.624+17G>T |
single nucleotide variant |
not provided [RCV003570030] |
Chr10:71566953 [GRCh38] Chr10:73326710 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7353C>T (p.Asn2451=) |
single nucleotide variant |
not provided [RCV003874304] |
Chr10:71799620 [GRCh38] Chr10:73559377 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4548C>T (p.Thr1516=) |
single nucleotide variant |
not provided [RCV003569774] |
Chr10:71740881 [GRCh38] Chr10:73500638 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1141-14C>T |
single nucleotide variant |
not provided [RCV003571747] |
Chr10:71645817 [GRCh38] Chr10:73405574 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9180T>C (p.Asp3060=) |
single nucleotide variant |
not provided [RCV003569756] |
Chr10:71811417 [GRCh38] Chr10:73571174 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8560+20G>A |
single nucleotide variant |
not provided [RCV003569693] |
Chr10:71807787 [GRCh38] Chr10:73567544 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3716-10C>G |
single nucleotide variant |
not provided [RCV003663329] |
Chr10:71731977 [GRCh38] Chr10:73491734 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8722+4G>A |
single nucleotide variant |
not provided [RCV003456706] |
Chr10:71808011 [GRCh38] Chr10:73567768 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8561-16C>A |
single nucleotide variant |
not provided [RCV003543217] |
Chr10:71807830 [GRCh38] Chr10:73567587 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3168G>A (p.Val1056=) |
single nucleotide variant |
not provided [RCV003571291] |
Chr10:71709159 [GRCh38] Chr10:73468916 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3474C>T (p.Leu1158=) |
single nucleotide variant |
not provided [RCV003733465] |
Chr10:71725415 [GRCh38] Chr10:73485172 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6829+16G>A |
single nucleotide variant |
not provided [RCV003570001] |
Chr10:71797236 [GRCh38] Chr10:73556993 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3716-4A>C |
single nucleotide variant |
not provided [RCV003734656] |
Chr10:71731983 [GRCh38] Chr10:73491740 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5178T>C (p.Ser1726=) |
single nucleotide variant |
not provided [RCV003571489] |
Chr10:71778299 [GRCh38] Chr10:73538056 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3715+10G>T |
single nucleotide variant |
not provided [RCV003671707] |
Chr10:71730614 [GRCh38] Chr10:73490371 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.67+18C>T |
single nucleotide variant |
not provided [RCV003875159] |
Chr10:71439916 [GRCh38] Chr10:73199673 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3580-4A>G |
single nucleotide variant |
not provided [RCV003734876] |
Chr10:71730465 [GRCh38] Chr10:73490222 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3370-18T>C |
single nucleotide variant |
not provided [RCV003735708] |
Chr10:71724027 [GRCh38] Chr10:73483784 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7225-18C>T |
single nucleotide variant |
not provided [RCV003875656] |
Chr10:71799474 [GRCh38] Chr10:73559231 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6978C>T (p.Gly2326=) |
single nucleotide variant |
not provided [RCV003570186] |
Chr10:71798502 [GRCh38] Chr10:73558259 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4164A>G (p.Thr1388=) |
single nucleotide variant |
not provided [RCV003686518] |
Chr10:71734299 [GRCh38] Chr10:73494056 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4206+14_4206+40del |
deletion |
not provided [RCV003681932] |
Chr10:71734352..71734378 [GRCh38] Chr10:73494109..73494135 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7660+19A>G |
single nucleotide variant |
not provided [RCV003570846] |
Chr10:71803094 [GRCh38] Chr10:73562851 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4194G>T (p.Val1398=) |
single nucleotide variant |
not provided [RCV003688060] |
Chr10:71734329 [GRCh38] Chr10:73494086 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4104+17A>G |
single nucleotide variant |
not provided [RCV003692696] |
Chr10:71732392 [GRCh38] Chr10:73492149 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3579+19T>C |
single nucleotide variant |
not provided [RCV003695536] |
Chr10:71725539 [GRCh38] Chr10:73485296 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1859-13C>T |
single nucleotide variant |
not provided [RCV003875191] |
Chr10:71682432 [GRCh38] Chr10:73442189 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5188-17C>A |
single nucleotide variant |
not provided [RCV003571577] |
Chr10:71779250 [GRCh38] Chr10:73539007 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-18G>T |
single nucleotide variant |
not provided [RCV003671545] |
Chr10:71725354 [GRCh38] Chr10:73485111 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3561C>T (p.Pro1187=) |
single nucleotide variant |
not provided [RCV003690336] |
Chr10:71725502 [GRCh38] Chr10:73485259 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1753-13C>T |
single nucleotide variant |
not provided [RCV003874860] |
Chr10:71679374 [GRCh38] Chr10:73439131 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2244A>T (p.Ala748=) |
single nucleotide variant |
not provided [RCV003872801] |
Chr10:71694214 [GRCh38] Chr10:73453971 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5610C>A (p.Val1870=) |
single nucleotide variant |
not provided [RCV003570760] |
Chr10:71784998 [GRCh38] Chr10:73544755 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2290-20C>A |
single nucleotide variant |
not provided [RCV003875135] |
Chr10:71695398 [GRCh38] Chr10:73455155 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5068-5C>T |
single nucleotide variant |
not provided [RCV003543175] |
Chr10:71778184 [GRCh38] Chr10:73537941 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8069del (p.Ile2690fs) |
deletion |
not provided [RCV003875163] |
Chr10:71806172 [GRCh38] Chr10:73565929 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2953+18C>A |
single nucleotide variant |
not provided [RCV003569303] |
Chr10:71705148 [GRCh38] Chr10:73464905 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3855C>T (p.Ala1285=) |
single nucleotide variant |
not provided [RCV003692724] |
Chr10:71732126 [GRCh38] Chr10:73491883 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3413G>A (p.Trp1138Ter) |
single nucleotide variant |
not provided [RCV003693313] |
Chr10:71724088 [GRCh38] Chr10:73483845 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.369G>T (p.Gly123=) |
single nucleotide variant |
not provided [RCV003874823] |
Chr10:71511152 [GRCh38] Chr10:73270909 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8444del (p.Arg2815fs) |
deletion |
not provided [RCV003571013] |
Chr10:71807651 [GRCh38] Chr10:73567408 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.5502+13G>A |
single nucleotide variant |
not provided [RCV003874824] |
Chr10:71784433 [GRCh38] Chr10:73544190 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5188-11C>A |
single nucleotide variant |
not provided [RCV003569196] |
Chr10:71779256 [GRCh38] Chr10:73539013 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.946-20T>C |
single nucleotide variant |
not provided [RCV003570936] |
Chr10:71617185 [GRCh38] Chr10:73376942 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3950dup (p.Tyr1318fs) |
duplication |
not provided [RCV003694517] |
Chr10:71732220..71732221 [GRCh38] Chr10:73491977..73491978 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7480C>T (p.Gln2494Ter) |
single nucleotide variant |
not provided [RCV003570957] |
Chr10:71800753 [GRCh38] Chr10:73560510 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3370-20C>T |
single nucleotide variant |
not provided [RCV003731342] |
Chr10:71724025 [GRCh38] Chr10:73483782 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2954-8C>T |
single nucleotide variant |
not provided [RCV003543613] |
Chr10:71706889 [GRCh38] Chr10:73466646 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-15T>C |
single nucleotide variant |
not provided [RCV003677687] |
Chr10:71725357 [GRCh38] Chr10:73485114 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3579+20G>C |
single nucleotide variant |
not provided [RCV003678232] |
Chr10:71725540 [GRCh38] Chr10:73485297 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4101C>T (p.Ile1367=) |
single nucleotide variant |
not provided [RCV003701241] |
Chr10:71732372 [GRCh38] Chr10:73492129 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3897C>T (p.Val1299=) |
single nucleotide variant |
not provided [RCV003701441] |
Chr10:71732168 [GRCh38] Chr10:73491925 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3370-9C>T |
single nucleotide variant |
not provided [RCV003670486] |
Chr10:71724036 [GRCh38] Chr10:73483793 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4489-10del |
deletion |
not provided [RCV003569014] |
Chr10:71740811 [GRCh38] Chr10:73500568 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3539C>G (p.Ala1180Gly) |
single nucleotide variant |
not provided [RCV003703306] |
Chr10:71725480 [GRCh38] Chr10:73485237 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.334G>C (p.Gly112Arg) |
single nucleotide variant |
not specified [RCV003479807] |
Chr10:71510999 [GRCh38] Chr10:73270756 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1179C>T (p.Asn393=) |
single nucleotide variant |
not provided [RCV003686187] |
Chr10:71645869 [GRCh38] Chr10:73405626 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4173A>G (p.Ala1391=) |
single nucleotide variant |
not provided [RCV003707560] |
Chr10:71734308 [GRCh38] Chr10:73494065 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6569G>A (p.Gly2190Asp) |
single nucleotide variant |
not provided [RCV003443322] |
Chr10:71793497 [GRCh38] Chr10:73553254 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.8443del (p.Arg2815fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474502] |
Chr10:71807647 [GRCh38] Chr10:73567404 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8352del (p.Leu2785fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474508] |
Chr10:71807559 [GRCh38] Chr10:73567316 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8590G>T (p.Glu2864Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474521] |
Chr10:71807875 [GRCh38] Chr10:73567632 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7841del (p.Pro2614fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474535] |
Chr10:71803387 [GRCh38] Chr10:73563144 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.9471_9474del (p.Ser3157fs) |
microsatellite |
Pituitary adenoma 5, multiple types [RCV003474507] |
Chr10:71812566..71812569 [GRCh38] Chr10:73572323..73572326 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.1936del (p.Ala646fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474518] |
Chr10:71682522 [GRCh38] Chr10:73442279 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4428del (p.Ile1476fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474530] |
Chr10:71739711 [GRCh38] Chr10:73499468 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4101_4104+3del |
deletion |
Pituitary adenoma 5, multiple types [RCV003474527] |
Chr10:71732372..71732378 [GRCh38] Chr10:73492129..73492135 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6675dup (p.Asn2226fs) |
duplication |
Pituitary adenoma 5, multiple types [RCV003475612] |
Chr10:71793600..71793601 [GRCh38] Chr10:73553357..73553358 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.1341C>A (p.Tyr447Ter) |
single nucleotide variant |
Combined PSAP deficiency [RCV003484982] |
Chr10:71819474 [GRCh38] Chr10:73579231 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7224+9C>T |
single nucleotide variant |
not provided [RCV003872689] |
Chr10:71799289 [GRCh38] Chr10:73559046 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3580-17T>C |
single nucleotide variant |
not provided [RCV003872706] |
Chr10:71730452 [GRCh38] Chr10:73490209 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474478] |
Chr10:71734330 [GRCh38] Chr10:73494087 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9319+1G>T |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474485] |
Chr10:71811754 [GRCh38] Chr10:73571511 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3720_3733del (p.Asp1240fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474534] |
Chr10:71731989..71732002 [GRCh38] Chr10:73491746..73491759 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6311_6344delinsCCA (p.Leu2104fs) |
indel |
Pituitary adenoma 5, multiple types [RCV003474537] |
Chr10:71793239..71793272 [GRCh38] Chr10:73552996..73553029 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2587+1G>C |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475618] |
Chr10:71702212 [GRCh38] Chr10:73461969 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2394del (p.Thr799fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003475620] |
Chr10:71695521 [GRCh38] Chr10:73455278 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4471dup (p.Asp1491fs) |
duplication |
Pituitary adenoma 5, multiple types [RCV003475622] |
Chr10:71739753..71739754 [GRCh38] Chr10:73499510..73499511 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2385_2386del (p.Asp796fs) |
deletion |
not provided [RCV003872656] |
Chr10:71695513..71695514 [GRCh38] Chr10:73455270..73455271 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3292_3295dup (p.Arg1099fs) |
duplication |
Pituitary adenoma 5, multiple types [RCV003474480] |
Chr10:71712734..71712735 [GRCh38] Chr10:73472491..73472492 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.5820+2T>C |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474492] |
Chr10:71785740 [GRCh38] Chr10:73545497 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.345_346del (p.Arg116fs) |
microsatellite |
Pituitary adenoma 5, multiple types [RCV003474503] |
Chr10:71511125..71511126 [GRCh38] Chr10:73270882..73270883 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2161_2166delinsGTGA (p.Ile721fs) |
indel |
Pituitary adenoma 5, multiple types [RCV003474522] |
Chr10:71690569..71690574 [GRCh38] Chr10:73450326..73450331 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.67+1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474538] |
Chr10:71439899 [GRCh38] Chr10:73199656 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8722+1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474516] |
Chr10:71808008 [GRCh38] Chr10:73567765 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6944_6945del (p.Leu2315fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474524] |
Chr10:71798467..71798468 [GRCh38] Chr10:73558224..73558225 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6346_6347del (p.Phe2116fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474525] |
Chr10:71793274..71793275 [GRCh38] Chr10:73553031..73553032 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4207-2A>G |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474529] |
Chr10:71734654 [GRCh38] Chr10:73494411 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7022del (p.Pro2341fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474531] |
Chr10:71798542 [GRCh38] Chr10:73558299 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3634C>T (p.Gln1212Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474539] |
Chr10:71730523 [GRCh38] Chr10:73490280 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8309-1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474526] |
Chr10:71807515 [GRCh38] Chr10:73567272 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.9738+1G>T |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475615] |
Chr10:71813349 [GRCh38] Chr10:73573106 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 |
copy number gain |
not provided [RCV003484798] |
Chr10:42709645..100834951 [GRCh37] Chr10:10q11.21-24.2 |
pathogenic |
GRCh37/hg19 10q22.1(chr10:73048012-73382032)x3 |
copy number gain |
not provided [RCV003484802] |
Chr10:73048012..73382032 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q22.1(chr10:73321269-74612651)x1 |
copy number loss |
not provided [RCV003483098] |
Chr10:73321269..74612651 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.1623_1626dup (p.Thr543fs) |
duplication |
Usher syndrome [RCV003389526] |
Chr10:71677563..71677564 [GRCh38] Chr10:73437320..73437321 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3591C>A (p.Tyr1197Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474487] |
Chr10:71730480 [GRCh38] Chr10:73490237 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.9264G>A (p.Trp3088Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474498] |
Chr10:71811576 [GRCh38] Chr10:73571333 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3486dup (p.Pro1163fs) |
duplication |
Pituitary adenoma 5, multiple types [RCV003474505] |
Chr10:71725424..71725425 [GRCh38] Chr10:73485181..73485182 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6516del (p.Glu2173fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474496] |
Chr10:71793441 [GRCh38] Chr10:73553198 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3397G>T (p.Glu1133Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474544] |
Chr10:71724072 [GRCh38] Chr10:73483829 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6464C>A (p.Ser2155Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474511] |
Chr10:71793392 [GRCh38] Chr10:73553149 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.1987-1G>T |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474513] |
Chr10:71687646 [GRCh38] Chr10:73447403 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4440del (p.Phe1480fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474532] |
Chr10:71739722 [GRCh38] Chr10:73499479 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6620del (p.Leu2207fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474542] |
Chr10:71793548 [GRCh38] Chr10:73553305 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4300del (p.Val1434fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003475611] |
Chr10:71738588 [GRCh38] Chr10:73498345 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7483-1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475617] |
Chr10:71802897 [GRCh38] Chr10:73562654 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8764del (p.Ala2922fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003475619] |
Chr10:71809860 [GRCh38] Chr10:73569617 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.1570G>A (p.Glu524Lys) |
single nucleotide variant |
Usher syndrome [RCV003389515] |
Chr10:71677511 [GRCh38] Chr10:73437268 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.1316A>T (p.Asp439Val) |
single nucleotide variant |
not provided [RCV003481979] |
Chr10:71646484 [GRCh38] Chr10:73406241 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.702dup (p.Ile235fs) |
duplication |
Pituitary adenoma 5, multiple types [RCV003474479] |
Chr10:71570863..71570864 [GRCh38] Chr10:73330620..73330621 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.5976del (p.Asp1993fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474489] |
Chr10:71790339 [GRCh38] Chr10:73550096 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4332G>A (p.Trp1444Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474493] |
Chr10:71738620 [GRCh38] Chr10:73498377 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8532_8533del (p.Arg2845fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474546] |
Chr10:71807738..71807739 [GRCh38] Chr10:73567495..73567496 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4863C>G (p.Tyr1621Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474523] |
Chr10:71777697 [GRCh38] Chr10:73537454 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2527del (p.Glu843fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474547] |
Chr10:71702149 [GRCh38] Chr10:73461906 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2954-2A>G |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475614] |
Chr10:71706895 [GRCh38] Chr10:73466652 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.6821_6822del (p.Val2274fs) |
microsatellite |
Pituitary adenoma 5, multiple types [RCV003475621] |
Chr10:71797209..71797210 [GRCh38] Chr10:73556966..73556967 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.1120_1123del (p.Val374fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474490] |
Chr10:71617378..71617381 [GRCh38] Chr10:73377135..73377138 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.1447delinsTTT (p.Leu483fs) |
indel |
Pituitary adenoma 5, multiple types [RCV003474494] |
Chr10:71646615 [GRCh38] Chr10:73406372 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.9109C>T (p.Gln3037Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474495] |
Chr10:71811346 [GRCh38] Chr10:73571103 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.9700del (p.Val3234fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474501] |
Chr10:71813309 [GRCh38] Chr10:73573066 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.860_863dup (p.Tyr288Ter) |
duplication |
Pituitary adenoma 5, multiple types [RCV003474509] |
Chr10:71615530..71615531 [GRCh38] Chr10:73375287..73375288 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.489del (p.Gly165fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474514] |
Chr10:71566801 [GRCh38] Chr10:73326558 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4426del (p.Ile1476fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474484] |
Chr10:71739710 [GRCh38] Chr10:73499467 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.7908C>A (p.Tyr2636Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474533] |
Chr10:71805841 [GRCh38] Chr10:73565598 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2844dup (p.Thr949fs) |
duplication |
Pituitary adenoma 5, multiple types [RCV003474543] |
Chr10:71705020..71705021 [GRCh38] Chr10:73464777..73464778 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3769G>T (p.Glu1257Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474536] |
Chr10:71732040 [GRCh38] Chr10:73491797 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.66G>A (p.Trp22Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475624] |
Chr10:71439897 [GRCh38] Chr10:73199654 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.1950del (p.Leu651fs) |
deletion |
CDH23-related condition [RCV003408706] |
Chr10:71682536 [GRCh38] Chr10:73442293 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.9381-2A>G |
single nucleotide variant |
CDH23-related condition [RCV003397746]|Pituitary adenoma 5, multiple types [RCV003475574] |
Chr10:71812478 [GRCh38] Chr10:73572235 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.8_9del (p.Arg3fs) |
microsatellite |
Usher syndrome [RCV003389522] |
Chr10:71439837..71439838 [GRCh38] Chr10:73199594..73199595 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.5902G>A (p.Val1968Met) |
single nucleotide variant |
CDH23-related condition [RCV003412276] |
Chr10:71789021 [GRCh38] Chr10:73548778 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6713-1G>A |
single nucleotide variant |
CDH23-related condition [RCV003404591] |
Chr10:71797103 [GRCh38] Chr10:73556860 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2878dup (p.Glu960fs) |
duplication |
Usher syndrome [RCV003389543] |
Chr10:71705053..71705054 [GRCh38] Chr10:73464810..73464811 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2741C>A (p.Ala914Asp) |
single nucleotide variant |
not provided [RCV003417483] |
Chr10:71704918 [GRCh38] Chr10:73464675 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3106+14C>T |
single nucleotide variant |
not provided [RCV003417484] |
Chr10:71707063 [GRCh38] Chr10:73466820 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_001164375.3(C10orf105):c.*490C>T |
single nucleotide variant |
not provided [RCV003417485] |
Chr10:71715446 [GRCh38] Chr10:73475203 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_001164375.3(C10orf105):c.78C>T (p.Pro26=) |
single nucleotide variant |
not provided [RCV003417486] |
Chr10:71716260 [GRCh38] Chr10:73476017 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9634G>A (p.Gly3212Ser) |
single nucleotide variant |
not provided [RCV003417487] |
Chr10:71813244 [GRCh38] Chr10:73573001 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9939G>A (p.Glu3313=) |
single nucleotide variant |
not provided [RCV003417488] |
Chr10:71815152 [GRCh38] Chr10:73574909 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1868_1891dup (p.Glu630_Gln631insLeuSerArgProLeuAspTyrGlu) |
duplication |
Usher syndrome [RCV003389520] |
Chr10:71682453..71682454 [GRCh38] Chr10:73442210..73442211 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.2066C>T (p.Thr689Met) |
single nucleotide variant |
CDH23-related condition [RCV003414130] |
Chr10:71690474 [GRCh38] Chr10:73450231 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9121C>G (p.Leu3041Val) |
single nucleotide variant |
Usher syndrome type 1D [RCV003389603] |
Chr10:71811358 [GRCh38] Chr10:73571115 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8177C>T (p.Pro2726Leu) |
single nucleotide variant |
not specified [RCV003388493] |
Chr10:71806280 [GRCh38] Chr10:73566037 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.6801A>G (p.Leu2267=) |
single nucleotide variant |
not provided [RCV003714676] |
Chr10:71797192 [GRCh38] Chr10:73556949 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2060-16C>A |
single nucleotide variant |
not provided [RCV003662853] |
Chr10:71690452 [GRCh38] Chr10:73450209 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.430-19_430-16del |
deletion |
not provided [RCV003547172] |
Chr10:71566720..71566723 [GRCh38] Chr10:73326477..73326480 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.672C>T (p.Ile224=) |
single nucleotide variant |
not provided [RCV003544626] |
Chr10:71570837 [GRCh38] Chr10:73330594 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1269C>G (p.Thr423=) |
single nucleotide variant |
not provided [RCV003572989] |
Chr10:71645959 [GRCh38] Chr10:73405716 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.68-16G>T |
single nucleotide variant |
not provided [RCV003716199] |
Chr10:71446302 [GRCh38] Chr10:73206059 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.429+15G>A |
single nucleotide variant |
not provided [RCV003824730] |
Chr10:71511227 [GRCh38] Chr10:73270984 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4104+17A>C |
single nucleotide variant |
not provided [RCV003551981] |
Chr10:71732392 [GRCh38] Chr10:73492149 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3579+13G>T |
single nucleotide variant |
not provided [RCV003572993] |
Chr10:71725533 [GRCh38] Chr10:73485290 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8309-20T>C |
single nucleotide variant |
not provided [RCV003662539] |
Chr10:71807496 [GRCh38] Chr10:73567253 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3801C>G (p.Thr1267=) |
single nucleotide variant |
not provided [RCV003566560] |
Chr10:71732072 [GRCh38] Chr10:73491829 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5995A>T (p.Thr1999Ser) |
single nucleotide variant |
not provided [RCV003690080] |
Chr10:71790359 [GRCh38] Chr10:73550116 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.946-14A>T |
single nucleotide variant |
not provided [RCV003663109] |
Chr10:71617191 [GRCh38] Chr10:73376948 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7668C>T (p.Phe2556=) |
single nucleotide variant |
not provided [RCV003713017] |
Chr10:71803216 [GRCh38] Chr10:73562973 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1450-9C>T |
single nucleotide variant |
not provided [RCV003544827] |
Chr10:71675103 [GRCh38] Chr10:73434860 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2600del (p.Pro867fs) |
deletion |
not provided [RCV003716283] |
Chr10:71702557 [GRCh38] Chr10:73462314 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3462C>A (p.Val1154=) |
single nucleotide variant |
not provided [RCV003574604] |
Chr10:71725403 [GRCh38] Chr10:73485160 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9141C>A (p.Val3047=) |
single nucleotide variant |
not provided [RCV003686812] |
Chr10:71811378 [GRCh38] Chr10:73571135 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.145+11dup |
duplication |
not provided [RCV003661377] |
Chr10:71446401..71446402 [GRCh38] Chr10:73206158..73206159 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.1450-7G>A |
single nucleotide variant |
not provided [RCV003713823] |
Chr10:71675105 [GRCh38] Chr10:73434862 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.522C>A (p.Pro174=) |
single nucleotide variant |
not provided [RCV003824743] |
Chr10:71566834 [GRCh38] Chr10:73326591 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.67+9A>G |
single nucleotide variant |
not provided [RCV003572383] |
Chr10:71439907 [GRCh38] Chr10:73199664 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2130C>T (p.Ile710=) |
single nucleotide variant |
not provided [RCV003661460] |
Chr10:71690538 [GRCh38] Chr10:73450295 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5859T>C (p.Asn1953=) |
single nucleotide variant |
not provided [RCV003713149] |
Chr10:71788978 [GRCh38] Chr10:73548735 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5712+11G>A |
single nucleotide variant |
not provided [RCV003713815] |
Chr10:71785111 [GRCh38] Chr10:73544868 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6090G>A (p.Glu2030=) |
single nucleotide variant |
not provided [RCV003545781] |
Chr10:71791172 [GRCh38] Chr10:73550929 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6660T>A (p.Thr2220=) |
single nucleotide variant |
not provided [RCV003686979] |
Chr10:71793588 [GRCh38] Chr10:73553345 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3060G>A (p.Thr1020=) |
single nucleotide variant |
not provided [RCV003575923] |
Chr10:71707003 [GRCh38] Chr10:73466760 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9537T>C (p.Ala3179=) |
single nucleotide variant |
not provided [RCV003687014] |
Chr10:71812794 [GRCh38] Chr10:73572551 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4207-14G>C |
single nucleotide variant |
not provided [RCV003878646] |
Chr10:71734642 [GRCh38] Chr10:73494399 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6173C>A (p.Thr2058Asn) |
single nucleotide variant |
not provided [RCV003573314] |
Chr10:71791255 [GRCh38] Chr10:73551012 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6594C>T (p.Ala2198=) |
single nucleotide variant |
not provided [RCV003661582] |
Chr10:71793522 [GRCh38] Chr10:73553279 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9381-9C>A |
single nucleotide variant |
not provided [RCV003547419] |
Chr10:71812471 [GRCh38] Chr10:73572228 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4618-16C>T |
single nucleotide variant |
not provided [RCV003879392] |
Chr10:71741678 [GRCh38] Chr10:73501435 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5068-7C>T |
single nucleotide variant |
not provided [RCV003662928] |
Chr10:71778182 [GRCh38] Chr10:73537939 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.642G>A (p.Arg214=) |
single nucleotide variant |
not provided [RCV003879950] |
Chr10:71570807 [GRCh38] Chr10:73330564 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1424_1425dup (p.Gly476fs) |
duplication |
not provided [RCV003543939] |
Chr10:71646590..71646591 [GRCh38] Chr10:73406347..73406348 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3157A>C (p.Arg1053=) |
single nucleotide variant |
not provided [RCV003543957] |
Chr10:71709148 [GRCh38] Chr10:73468905 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7011C>T (p.Asp2337=) |
single nucleotide variant |
not provided [RCV003572721] |
Chr10:71798535 [GRCh38] Chr10:73558292 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8722+18A>T |
single nucleotide variant |
not provided [RCV003687920] |
Chr10:71808025 [GRCh38] Chr10:73567782 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5775C>T (p.Thr1925=) |
single nucleotide variant |
not provided [RCV003686530] |
Chr10:71785693 [GRCh38] Chr10:73545450 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9417C>T (p.Asn3139=) |
single nucleotide variant |
not provided [RCV003572119] |
Chr10:71812516 [GRCh38] Chr10:73572273 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3220+17C>T |
single nucleotide variant |
not provided [RCV003714976] |
Chr10:71709228 [GRCh38] Chr10:73468985 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1290+15A>G |
single nucleotide variant |
not provided [RCV003879386] |
Chr10:71645995 [GRCh38] Chr10:73405752 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2760C>G (p.Gly920=) |
single nucleotide variant |
not provided [RCV003547511] |
Chr10:71704937 [GRCh38] Chr10:73464694 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3103dup (p.Thr1035fs) |
duplication |
not provided [RCV003690558] |
Chr10:71707045..71707046 [GRCh38] Chr10:73466802..73466803 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2829C>T (p.Ser943=) |
single nucleotide variant |
not provided [RCV003686837] |
Chr10:71705006 [GRCh38] Chr10:73464763 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4918G>T (p.Glu1640Ter) |
single nucleotide variant |
not provided [RCV003544214] |
Chr10:71777752 [GRCh38] Chr10:73537509 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4524G>A (p.Lys1508=) |
single nucleotide variant |
not provided [RCV003573072] |
Chr10:71740857 [GRCh38] Chr10:73500614 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1152C>T (p.Ser384=) |
single nucleotide variant |
not provided [RCV003686950] |
Chr10:71645842 [GRCh38] Chr10:73405599 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6254-18C>T |
single nucleotide variant |
not provided [RCV003686932] |
Chr10:71793164 [GRCh38] Chr10:73552921 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7023A>G (p.Pro2341=) |
single nucleotide variant |
not provided [RCV003573200] |
Chr10:71798547 [GRCh38] Chr10:73558304 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8308+14G>T |
single nucleotide variant |
not provided [RCV003689366] |
Chr10:71807420 [GRCh38] Chr10:73567177 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3430+20G>T |
single nucleotide variant |
not provided [RCV003557033] |
Chr10:71724125 [GRCh38] Chr10:73483882 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3177C>T (p.Asp1059=) |
single nucleotide variant |
not provided [RCV003714108] |
Chr10:71709168 [GRCh38] Chr10:73468925 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8318_8319del (p.Glu2773fs) |
deletion |
not provided [RCV003574112] |
Chr10:71807525..71807526 [GRCh38] Chr10:73567282..73567283 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8133C>A (p.Ala2711=) |
single nucleotide variant |
not provided [RCV003547487] |
Chr10:71806236 [GRCh38] Chr10:73565993 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3541_3559del (p.Tyr1181fs) |
deletion |
not provided [RCV003565166] |
Chr10:71725478..71725496 [GRCh38] Chr10:73485235..73485253 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_001164375.3(C10orf105):c.*3291A>T |
single nucleotide variant |
not provided [RCV003663464] |
Chr10:71712645 [GRCh38] Chr10:73472402 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8727C>T (p.Ser2909=) |
single nucleotide variant |
not provided [RCV003686804] |
Chr10:71809824 [GRCh38] Chr10:73569581 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.754-6G>T |
single nucleotide variant |
not provided [RCV003544739] |
Chr10:71577908 [GRCh38] Chr10:73337665 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2290-1G>A |
single nucleotide variant |
not provided [RCV003660350] |
Chr10:71695417 [GRCh38] Chr10:73455174 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.1374C>T (p.Pro458=) |
single nucleotide variant |
not provided [RCV003572400] |
Chr10:71646542 [GRCh38] Chr10:73406299 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3220+13C>T |
single nucleotide variant |
not provided [RCV003876785] |
Chr10:71709224 [GRCh38] Chr10:73468981 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5740C>T (p.Leu1914=) |
single nucleotide variant |
not provided [RCV003572801] |
Chr10:71785658 [GRCh38] Chr10:73545415 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5923+20G>T |
single nucleotide variant |
not provided [RCV003687968] |
Chr10:71789062 [GRCh38] Chr10:73548819 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.946-1G>A |
single nucleotide variant |
not provided [RCV003547607] |
Chr10:71617204 [GRCh38] Chr10:73376961 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3430+9G>A |
single nucleotide variant |
not provided [RCV003575723] |
Chr10:71724114 [GRCh38] Chr10:73483871 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3715+16G>A |
single nucleotide variant |
not provided [RCV003575887] |
Chr10:71730620 [GRCh38] Chr10:73490377 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3481C>A (p.Arg1161=) |
single nucleotide variant |
not provided [RCV003576292] |
Chr10:71725422 [GRCh38] Chr10:73485179 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6713-10_6713-6del |
microsatellite |
not provided [RCV003688208] |
Chr10:71797088..71797092 [GRCh38] Chr10:73556845..73556849 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1141-11T>C |
single nucleotide variant |
not provided [RCV003689692] |
Chr10:71645820 [GRCh38] Chr10:73405577 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3834C>T (p.Ser1278=) |
single nucleotide variant |
not provided [RCV003579189] |
Chr10:71732105 [GRCh38] Chr10:73491862 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9739-17G>A |
single nucleotide variant |
not provided [RCV003715676] |
Chr10:71814935 [GRCh38] Chr10:73574692 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5664C>T (p.Phe1888=) |
single nucleotide variant |
not provided [RCV003687491] |
Chr10:71785052 [GRCh38] Chr10:73544809 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3106+12G>A |
single nucleotide variant |
not provided [RCV003572167] |
Chr10:71707061 [GRCh38] Chr10:73466818 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.946-4A>C |
single nucleotide variant |
not provided [RCV003687692] |
Chr10:71617201 [GRCh38] Chr10:73376958 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5196G>C (p.Val1732=) |
single nucleotide variant |
not provided [RCV003689688] |
Chr10:71779275 [GRCh38] Chr10:73539032 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.8020C>T (p.Gln2674Ter) |
single nucleotide variant |
not provided [RCV003544389] |
Chr10:71805953 [GRCh38] Chr10:73565710 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.1859-17T>C |
single nucleotide variant |
not provided [RCV003575863] |
Chr10:71682428 [GRCh38] Chr10:73442185 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4617+18del |
deletion |
not provided [RCV003544299] |
Chr10:71740965 [GRCh38] Chr10:73500722 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.8979+8A>T |
single nucleotide variant |
not provided [RCV003688248] |
Chr10:71810084 [GRCh38] Chr10:73569841 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2211_2212del (p.Glu737fs) |
microsatellite |
not provided [RCV003545975] |
Chr10:71694177..71694178 [GRCh38] Chr10:73453934..73453935 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.8661C>T (p.Ala2887=) |
single nucleotide variant |
not provided [RCV003661684] |
Chr10:71807946 [GRCh38] Chr10:73567703 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1880del (p.Leu627fs) |
deletion |
not provided [RCV003662968] |
Chr10:71682466 [GRCh38] Chr10:73442223 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.2733+14A>C |
single nucleotide variant |
not provided [RCV003687202] |
Chr10:71702708 [GRCh38] Chr10:73462465 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2226C>A (p.Tyr742Ter) |
single nucleotide variant |
not provided [RCV003687345] |
Chr10:71694196 [GRCh38] Chr10:73453953 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.7054+14C>G |
single nucleotide variant |
not provided [RCV003572709] |
Chr10:71798592 [GRCh38] Chr10:73558349 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9278+18_9278+19del |
deletion |
not provided [RCV003687009] |
Chr10:71811608..71811609 [GRCh38] Chr10:73571365..73571366 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.945+20C>T |
single nucleotide variant |
not provided [RCV003714615] |
Chr10:71615636 [GRCh38] Chr10:73375393 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4575A>G (p.Pro1525=) |
single nucleotide variant |
not provided [RCV003547416] |
Chr10:71740908 [GRCh38] Chr10:73500665 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.753+15C>T |
single nucleotide variant |
not provided [RCV003824926] |
Chr10:71570933 [GRCh38] Chr10:73330690 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3715+17G>A |
single nucleotide variant |
not provided [RCV003549171] |
Chr10:71730621 [GRCh38] Chr10:73490378 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3430+2T>C |
single nucleotide variant |
not provided [RCV003545395] |
Chr10:71724107 [GRCh38] Chr10:73483864 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8179-10C>T |
single nucleotide variant |
not provided [RCV003687298] |
Chr10:71807267 [GRCh38] Chr10:73567024 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9633+1G>A |
single nucleotide variant |
not provided [RCV003689200] |
Chr10:71812891 [GRCh38] Chr10:73572648 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3888C>T (p.Phe1296=) |
single nucleotide variant |
not provided [RCV003551965] |
Chr10:71732159 [GRCh38] Chr10:73491916 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9003G>T (p.Arg3001=) |
single nucleotide variant |
not provided [RCV003716215] |
Chr10:71810495 [GRCh38] Chr10:73570252 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6135C>T (p.Asp2045=) |
single nucleotide variant |
not provided [RCV003715293] |
Chr10:71791217 [GRCh38] Chr10:73550974 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.832+1G>A |
single nucleotide variant |
not provided [RCV003574486] |
Chr10:71577993 [GRCh38] Chr10:73337750 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.8178+17_8178+19del |
microsatellite |
not provided [RCV003824977] |
Chr10:71806295..71806297 [GRCh38] Chr10:73566052..73566054 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5868C>A (p.His1956Gln) |
single nucleotide variant |
not provided [RCV003663471] |
Chr10:71788987 [GRCh38] Chr10:73548744 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9027G>C (p.Leu3009=) |
single nucleotide variant |
not provided [RCV003545263] |
Chr10:71810519 [GRCh38] Chr10:73570276 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5070T>G (p.Gly1690=) |
single nucleotide variant |
not provided [RCV003573989] |
Chr10:71778191 [GRCh38] Chr10:73537948 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-20G>T |
single nucleotide variant |
not provided [RCV003557411] |
Chr10:71725352 [GRCh38] Chr10:73485109 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3822G>A (p.Glu1274=) |
single nucleotide variant |
not provided [RCV003544724] |
Chr10:71732093 [GRCh38] Chr10:73491850 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5821-7dup |
duplication |
not provided [RCV003690028] |
Chr10:71788929..71788930 [GRCh38] Chr10:73548686..73548687 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.5142A>G (p.Thr1714=) |
single nucleotide variant |
not provided [RCV003543943] |
Chr10:71778263 [GRCh38] Chr10:73538020 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3715+1G>A |
single nucleotide variant |
not provided [RCV003561557] |
Chr10:71730605 [GRCh38] Chr10:73490362 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3615C>T (p.Ala1205=) |
single nucleotide variant |
not provided [RCV003877233] |
Chr10:71730504 [GRCh38] Chr10:73490261 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6660T>G (p.Thr2220=) |
single nucleotide variant |
not provided [RCV003574687] |
Chr10:71793588 [GRCh38] Chr10:73553345 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4617+20C>A |
single nucleotide variant |
not provided [RCV003575943] |
Chr10:71740970 [GRCh38] Chr10:73500727 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.1140+18G>A |
single nucleotide variant |
not provided [RCV003877420] |
Chr10:71643884 [GRCh38] Chr10:73403641 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3106+7C>G |
single nucleotide variant |
not provided [RCV003877384] |
Chr10:71707056 [GRCh38] Chr10:73466813 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3243A>C (p.Arg1081=) |
single nucleotide variant |
not provided [RCV003690176] |
Chr10:71712687 [GRCh38] Chr10:73472444 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9320-13C>T |
single nucleotide variant |
not provided [RCV003715578] |
Chr10:71811942 [GRCh38] Chr10:73571699 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9651G>A (p.Val3217=) |
single nucleotide variant |
not provided [RCV003662519] |
Chr10:71813261 [GRCh38] Chr10:73573018 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-19G>T |
single nucleotide variant |
not provided [RCV003567165] |
Chr10:71725353 [GRCh38] Chr10:73485110 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5924-13C>T |
single nucleotide variant |
not provided [RCV003661200] |
Chr10:71790275 [GRCh38] Chr10:73550032 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.6050-5G>C |
single nucleotide variant |
not provided [RCV003546979] |
Chr10:71791127 [GRCh38] Chr10:73550884 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3828G>A (p.Lys1276=) |
single nucleotide variant |
not provided [RCV003574497] |
Chr10:71732099 [GRCh38] Chr10:73491856 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.2059+19G>T |
single nucleotide variant |
not provided [RCV003686803] |
Chr10:71687738 [GRCh38] Chr10:73447495 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.7623T>C (p.Asn2541=) |
single nucleotide variant |
not provided [RCV003689717] |
Chr10:71803038 [GRCh38] Chr10:73562795 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9199-13C>T |
single nucleotide variant |
not provided [RCV003575209] |
Chr10:71811498 [GRCh38] Chr10:73571255 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.5187+14A>C |
single nucleotide variant |
not provided [RCV003716335] |
Chr10:71778322 [GRCh38] Chr10:73538079 [GRCh37] Chr10:10q22.1 |
likely benign |