| GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] |
Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2 |
pathogenic |
| GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 |
copy number gain |
See cases [RCV000052295] |
Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33 |
pathogenic |
| GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 |
copy number gain |
See cases [RCV000052294] |
Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33 |
pathogenic |
| NM_001160103.1(ZC3H14):c.1250C>A (p.Thr417Lys) |
single nucleotide variant |
Malignant melanoma [RCV000062806] |
Chr14:88578111 [GRCh38]
Chr14:89044455 [GRCh37]
Chr14:88114208 [NCBI36]
Chr14:14q31.3 |
not provided |
| NM_024824.5(ZC3H14):c.1522G>A (p.Val508Ile) |
single nucleotide variant |
not provided [RCV000118882] |
Chr14:88602835 [GRCh38]
Chr14:89069179 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1023-4T>G |
single nucleotide variant |
not specified [RCV000118883] |
Chr14:88575836 [GRCh38]
Chr14:89042180 [GRCh37]
Chr14:14q31.3 |
benign|likely benign |
| NM_024824.5(ZC3H14):c.2206G>A (p.Glu736Lys) |
single nucleotide variant |
not provided [RCV000118884] |
Chr14:88611746 [GRCh38]
Chr14:89078090 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.432-3T>C |
single nucleotide variant |
Intellectual disability, autosomal recessive 56 [RCV002492402]|ZC3H14-related condition [RCV003925164]|not provided [RCV000960677]|not specified [RCV000118885] |
Chr14:88572575 [GRCh38]
Chr14:89038919 [GRCh37]
Chr14:14q31.3 |
benign|likely benign |
| NM_024824.5(ZC3H14):c.1232C>T (p.Pro411Leu) |
single nucleotide variant |
Intellectual disability, autosomal recessive 56 [RCV001332563] |
Chr14:88578093 [GRCh38]
Chr14:89044437 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 |
copy number gain |
See cases [RCV000134000] |
Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33 |
pathogenic |
| GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 |
copy number gain |
See cases [RCV000135543] |
Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh38/hg38 14q31.3(chr14:88463741-88715010)x1 |
copy number loss |
See cases [RCV000136929] |
Chr14:88463741..88715010 [GRCh38]
Chr14:88930085..89181354 [GRCh37]
Chr14:87999838..88251107 [NCBI36]
Chr14:14q31.3 |
uncertain significance |
| GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 |
copy number gain |
See cases [RCV000138230] |
Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33 |
pathogenic |
| GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 |
copy number gain |
See cases [RCV000143373] |
Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33 |
pathogenic |
| NM_024824.5(ZC3H14):c.171C>G (p.Asn57Lys) |
single nucleotide variant |
not specified [RCV000192730] |
Chr14:88568130 [GRCh38]
Chr14:89034474 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.2129C>T (p.Pro710Leu) |
single nucleotide variant |
not provided [RCV000761891]|not specified [RCV000193628] |
Chr14:88610865 [GRCh38]
Chr14:89077209 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.2130G>A (p.Pro710=) |
single nucleotide variant |
not provided [RCV001815217]|not specified [RCV000194677] |
Chr14:88610866 [GRCh38]
Chr14:89077210 [GRCh37]
Chr14:14q31.3 |
likely benign|uncertain significance |
| NM_024824.5(ZC3H14):c.79+19G>T |
single nucleotide variant |
not specified [RCV000195108] |
Chr14:88563712 [GRCh38]
Chr14:89030056 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.48G>A (p.Lys16=) |
single nucleotide variant |
not provided [RCV000896216]|not specified [RCV000192714] |
Chr14:88563662 [GRCh38]
Chr14:89030006 [GRCh37]
Chr14:14q31.3 |
likely benign|uncertain significance |
| NM_024824.5(ZC3H14):c.1304C>T (p.Ser435Phe) |
single nucleotide variant |
not provided [RCV000883291]|not specified [RCV000193653] |
Chr14:88596758 [GRCh38]
Chr14:89063102 [GRCh37]
Chr14:14q31.3 |
benign|likely benign|uncertain significance |
| NM_024824.5(ZC3H14):c.1563G>A (p.Thr521=) |
single nucleotide variant |
not specified [RCV000194714] |
Chr14:88602876 [GRCh38]
Chr14:89069220 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1230C>T (p.Pro410=) |
single nucleotide variant |
not specified [RCV000192634] |
Chr14:88578091 [GRCh38]
Chr14:89044435 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.736C>G (p.Gln246Glu) |
single nucleotide variant |
not specified [RCV000194117] |
Chr14:88572882 [GRCh38]
Chr14:89039226 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.2204+17_2204+41del |
deletion |
Intellectual disability, autosomal recessive 56 [RCV000240871]|not provided [RCV000966173] |
Chr14:88610948..88610972 [GRCh38]
Chr14:89077292..89077316 [GRCh37]
Chr14:14q31.3 |
pathogenic|benign|conflicting interpretations of pathogenicity |
| NM_024824.5(ZC3H14):c.460C>T (p.Arg154Ter) |
single nucleotide variant |
Intellectual disability, autosomal recessive 56 [RCV000240944] |
Chr14:88572606 [GRCh38]
Chr14:89038950 [GRCh37]
Chr14:14q31.3 |
pathogenic |
| NM_024824.5(ZC3H14):c.1273A>C (p.Asn425His) |
single nucleotide variant |
not specified [RCV004275301] |
Chr14:88578134 [GRCh38]
Chr14:89044478 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1424C>T (p.Ser475Phe) |
single nucleotide variant |
Intellectual disability, autosomal recessive 56 [RCV001169918] |
Chr14:88601993 [GRCh38]
Chr14:89068337 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_024824.5(ZC3H14):c.998C>T (p.Ser333Phe) |
single nucleotide variant |
not provided [RCV000732389] |
Chr14:88574829 [GRCh38]
Chr14:89041173 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 |
copy number gain |
See cases [RCV000446256] |
Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 |
copy number gain |
See cases [RCV000448557] |
Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) |
copy number gain |
See cases [RCV000512041] |
Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| NM_024824.5(ZC3H14):c.818A>G (p.Tyr273Cys) |
single nucleotide variant |
not specified [RCV000500967] |
Chr14:88572964 [GRCh38]
Chr14:89039308 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.264C>T (p.Thr88=) |
single nucleotide variant |
not specified [RCV000503629] |
Chr14:88572058 [GRCh38]
Chr14:89038402 [GRCh37]
Chr14:14q31.3 |
likely benign |
| GRCh37/hg19 14q31.3(chr14:88865689-89340231)x1 |
copy number loss |
See cases [RCV000510258] |
Chr14:88865689..89340231 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.2005+12_2005+15del |
deletion |
not specified [RCV000504003] |
Chr14:88609413..88609416 [GRCh38]
Chr14:89075757..89075760 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.971G>A (p.Arg324Gln) |
single nucleotide variant |
not specified [RCV000504210] |
Chr14:88574802 [GRCh38]
Chr14:89041146 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.825G>A (p.Pro275=) |
single nucleotide variant |
not specified [RCV000502111] |
Chr14:88572971 [GRCh38]
Chr14:89039315 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_024824.5(ZC3H14):c.1432G>A (p.Val478Ile) |
single nucleotide variant |
not provided [RCV000921642]|not specified [RCV000502421] |
Chr14:88602001 [GRCh38]
Chr14:89068345 [GRCh37]
Chr14:14q31.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_024824.5(ZC3H14):c.1868+34_1868+64del |
microsatellite |
not specified [RCV000502626] |
Chr14:88607346..88607376 [GRCh38]
Chr14:89073690..89073720 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1260T>G (p.Asp420Glu) |
single nucleotide variant |
ZC3H14-related condition [RCV003902802]|not specified [RCV000500521] |
Chr14:88578121 [GRCh38]
Chr14:89044465 [GRCh37]
Chr14:14q31.3 |
likely benign|uncertain significance |
| NM_024824.5(ZC3H14):c.744T>C (p.Asp248=) |
single nucleotide variant |
not provided [RCV000951126]|not specified [RCV000500572] |
Chr14:88572890 [GRCh38]
Chr14:89039234 [GRCh37]
Chr14:14q31.3 |
benign|likely benign |
| NM_024824.5(ZC3H14):c.2171G>A (p.Arg724Gln) |
single nucleotide variant |
not specified [RCV004305775] |
Chr14:88610907 [GRCh38]
Chr14:89077251 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.5624C>G (p.Thr1875Ser) |
single nucleotide variant |
not specified [RCV004324196] |
Chr14:88618246 [GRCh38]
Chr14:89084590 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.4539A>C (p.Lys1513Asn) |
single nucleotide variant |
not specified [RCV004307242] |
Chr14:88627039 [GRCh38]
Chr14:89093383 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.4694T>A (p.Leu1565Gln) |
single nucleotide variant |
not specified [RCV004284398] |
Chr14:88626884 [GRCh38]
Chr14:89093228 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 |
copy number gain |
See cases [RCV000512497] |
Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33 |
pathogenic |
| NM_024824.5(ZC3H14):c.235+14_235+15insATT |
insertion |
not provided [RCV000514163] |
Chr14:88571138..88571139 [GRCh38]
Chr14:89037482..89037483 [GRCh37]
Chr14:14q31.3 |
likely benign |
| GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1 |
copy number loss |
not provided [RCV000683625] |
Chr14:84783137..96908198 [GRCh37]
Chr14:14q31.2-32.2 |
pathogenic |
| GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 |
copy number gain |
not provided [RCV000738412] |
Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 |
copy number gain |
not provided [RCV000738413] |
Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 |
copy number gain |
not provided [RCV000738414] |
Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| NM_024824.5(ZC3H14):c.441C>T (p.Tyr147=) |
single nucleotide variant |
not provided [RCV000891541] |
Chr14:88572587 [GRCh38]
Chr14:89038931 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_024824.5(ZC3H14):c.294C>T (p.Asn98=) |
single nucleotide variant |
not provided [RCV000761890] |
Chr14:88572088 [GRCh38]
Chr14:89038432 [GRCh37]
Chr14:14q31.3 |
likely benign |
| GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1 |
copy number loss |
not provided [RCV003312295] |
Chr14:88401076..94725706 [GRCh37]
Chr14:14q31.3-32.13 |
pathogenic |
| NM_024824.5(ZC3H14):c.853A>T (p.Ser285Cys) |
single nucleotide variant |
Intellectual disability, autosomal recessive 56 [RCV001333229]|not provided [RCV000903549] |
Chr14:88572999 [GRCh38]
Chr14:89039343 [GRCh37]
Chr14:14q31.3 |
likely benign|uncertain significance |
| NM_024824.5(ZC3H14):c.922T>A (p.Phe308Ile) |
single nucleotide variant |
not specified [RCV004295538] |
Chr14:88574753 [GRCh38]
Chr14:89041097 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.2118A>G (p.Gln706=) |
single nucleotide variant |
not provided [RCV000947589] |
Chr14:88610854 [GRCh38]
Chr14:89077198 [GRCh37]
Chr14:14q31.3 |
benign |
| NM_024824.5(ZC3H14):c.189C>T (p.Thr63=) |
single nucleotide variant |
not provided [RCV000908660] |
Chr14:88568148 [GRCh38]
Chr14:89034492 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_183387.3(EML5):c.5203-25dup |
duplication |
not specified [RCV000454930] |
Chr14:88620934..88620935 [GRCh38]
Chr14:89087278..89087279 [GRCh37]
Chr14:14q31.3 |
benign |
| NC_000014.8:g.(?_88852143)_(89343774_?)dup |
duplication |
Bardet-Biedl syndrome [RCV000800032] |
Chr14:88385799..88877430 [GRCh38]
Chr14:88852143..89343774 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| GRCh37/hg19 14q31.3(chr14:88843652-89040286)x3 |
copy number gain |
not provided [RCV000849822] |
Chr14:88843652..89040286 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1 |
copy number loss |
not provided [RCV000847566] |
Chr14:77274990..89803137 [GRCh37]
Chr14:14q24.3-32.11 |
pathogenic |
| NM_183387.3(EML5):c.5449G>C (p.Gly1817Arg) |
single nucleotide variant |
not specified [RCV004321748] |
Chr14:88618739 [GRCh38]
Chr14:89085083 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.282C>T (p.Asn94=) |
single nucleotide variant |
not provided [RCV000933521] |
Chr14:88572076 [GRCh38]
Chr14:89038420 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_024824.5(ZC3H14):c.286C>G (p.Pro96Ala) |
single nucleotide variant |
not provided [RCV000885399] |
Chr14:88572080 [GRCh38]
Chr14:89038424 [GRCh37]
Chr14:14q31.3 |
benign |
| NM_024824.5(ZC3H14):c.1990C>T (p.Leu664=) |
single nucleotide variant |
not provided [RCV000888919] |
Chr14:88609388 [GRCh38]
Chr14:89075732 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_183387.3(EML5):c.5360C>A (p.Ala1787Glu) |
single nucleotide variant |
not provided [RCV000880677] |
Chr14:88620769 [GRCh38]
Chr14:89087113 [GRCh37]
Chr14:14q31.3 |
benign |
| NM_024824.5(ZC3H14):c.2204+4A>C |
single nucleotide variant |
ZC3H14-related condition [RCV003940675]|not provided [RCV000890821] |
Chr14:88610944 [GRCh38]
Chr14:89077288 [GRCh37]
Chr14:14q31.3 |
benign |
| NM_024824.5(ZC3H14):c.2204+10C>G |
single nucleotide variant |
ZC3H14-related condition [RCV003940676]|not provided [RCV000890822] |
Chr14:88610950 [GRCh38]
Chr14:89077294 [GRCh37]
Chr14:14q31.3 |
benign |
| NM_024824.5(ZC3H14):c.963C>T (p.Tyr321=) |
single nucleotide variant |
not provided [RCV000912967] |
Chr14:88574794 [GRCh38]
Chr14:89041138 [GRCh37]
Chr14:14q31.3 |
benign |
| GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 |
copy number gain |
not provided [RCV002472581] |
Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33 |
pathogenic |
| GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1 |
copy number loss |
Deletion syndrome [RCV001004048] |
Chr14:84783523..96907490 [GRCh37]
Chr14:14q31.2-32.2 |
pathogenic |
| NM_024824.5(ZC3H14):c.1279+9T>C |
single nucleotide variant |
Intellectual disability [RCV001261367]|ZC3H14-related condition [RCV003908482] |
Chr14:88578149 [GRCh38]
Chr14:89044493 [GRCh37]
Chr14:14q31.3 |
likely benign|uncertain significance |
| NM_024824.5(ZC3H14):c.311G>A (p.Arg104Gln) |
single nucleotide variant |
Intellectual disability, autosomal recessive 56 [RCV001333228] |
Chr14:88572105 [GRCh38]
Chr14:89038449 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1133A>G (p.Lys378Arg) |
single nucleotide variant |
Intellectual disability, autosomal recessive 56 [RCV001333227]|not specified [RCV004035759] |
Chr14:88577994 [GRCh38]
Chr14:89044338 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1280-1856A>G |
single nucleotide variant |
Intellectual disability, autosomal recessive 56 [RCV001330855] |
Chr14:88594878 [GRCh38]
Chr14:89061222 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1354+15A>G |
single nucleotide variant |
Intellectual disability, autosomal recessive 56 [RCV002245257] |
Chr14:88596823 [GRCh38]
Chr14:89063167 [GRCh37]
Chr14:14q31.3 |
benign |
| NM_024824.5(ZC3H14):c.79+14dup |
duplication |
not specified [RCV001819177] |
Chr14:88563700..88563701 [GRCh38]
Chr14:89030044..89030045 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1071G>A (p.Lys357=) |
single nucleotide variant |
ZC3H14-related condition [RCV003911031]|not provided [RCV003394274]|not specified [RCV001819494] |
Chr14:88575888 [GRCh38]
Chr14:89042232 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_024824.5(ZC3H14):c.842C>T (p.Ser281Leu) |
single nucleotide variant |
not specified [RCV001819675] |
Chr14:88572988 [GRCh38]
Chr14:89039332 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| GRCh37/hg19 14q31.3(chr14:88910135-89320435) |
copy number loss |
not specified [RCV002053120] |
Chr14:88910135..89320435 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| GRCh37/hg19 14q31.2-31.3(chr14:84325247-89218538) |
copy number loss |
not specified [RCV002053116] |
Chr14:84325247..89218538 [GRCh37]
Chr14:14q31.2-31.3 |
uncertain significance |
| GRCh37/hg19 14q31.3(chr14:88988441-89305352)x1 |
copy number loss |
not provided [RCV001833075] |
Chr14:88988441..89305352 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741) |
copy number loss |
not specified [RCV002053117] |
Chr14:88345625..94773741 [GRCh37]
Chr14:14q31.3-32.13 |
pathogenic |
| NM_024824.5(ZC3H14):c.1280-1960T>A |
single nucleotide variant |
not provided [RCV002211275] |
Chr14:88594774 [GRCh38]
Chr14:89061118 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NC_000014.8:g.(?_88391407)_(89343754_?)dup |
duplication |
Leber congenital amaurosis 3 [RCV003119911] |
Chr14:88391407..89343754 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 |
copy number gain |
See cases [RCV002286356] |
Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33 |
pathogenic |
| GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3 |
copy number gain |
not provided [RCV002472541] |
Chr14:81593708..97059276 [GRCh37]
Chr14:14q31.1-32.2 |
likely pathogenic |
| NM_183387.3(EML5):c.4706G>A (p.Arg1569Gln) |
single nucleotide variant |
not specified [RCV004202476] |
Chr14:88626872 [GRCh38]
Chr14:89093216 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.2116C>A (p.Gln706Lys) |
single nucleotide variant |
not specified [RCV004130882] |
Chr14:88610852 [GRCh38]
Chr14:89077196 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| GRCh37/hg19 14q31.3-32.11(chr14:85366999-90760040)x3 |
copy number gain |
not provided [RCV002475532] |
Chr14:85366999..90760040 [GRCh37]
Chr14:14q31.3-32.11 |
uncertain significance |
| NM_183387.3(EML5):c.4844C>T (p.Ala1615Val) |
single nucleotide variant |
not specified [RCV004152475] |
Chr14:88625024 [GRCh38]
Chr14:89091368 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1963A>G (p.Thr655Ala) |
single nucleotide variant |
not specified [RCV004132314] |
Chr14:88609361 [GRCh38]
Chr14:89075705 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1378G>T (p.Val460Phe) |
single nucleotide variant |
not specified [RCV004148478] |
Chr14:88601947 [GRCh38]
Chr14:89068291 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1307G>A (p.Arg436Gln) |
single nucleotide variant |
not specified [RCV004126663] |
Chr14:88596761 [GRCh38]
Chr14:89063105 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.5570A>G (p.Tyr1857Cys) |
single nucleotide variant |
not specified [RCV004242056] |
Chr14:88618300 [GRCh38]
Chr14:89084644 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.4555G>A (p.Gly1519Ser) |
single nucleotide variant |
not specified [RCV004150897] |
Chr14:88627023 [GRCh38]
Chr14:89093367 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.2176G>A (p.Ala726Thr) |
single nucleotide variant |
not specified [RCV004168004] |
Chr14:88610912 [GRCh38]
Chr14:89077256 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.2033G>A (p.Ser678Asn) |
single nucleotide variant |
not specified [RCV004079867] |
Chr14:88609739 [GRCh38]
Chr14:89076083 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1610A>T (p.Glu537Val) |
single nucleotide variant |
not specified [RCV004091049] |
Chr14:88602923 [GRCh38]
Chr14:89069267 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1987G>A (p.Val663Ile) |
single nucleotide variant |
not specified [RCV004081512] |
Chr14:88609385 [GRCh38]
Chr14:89075729 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.250A>G (p.Lys84Glu) |
single nucleotide variant |
not specified [RCV004225689] |
Chr14:88572044 [GRCh38]
Chr14:89038388 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.5417A>G (p.Glu1806Gly) |
single nucleotide variant |
not specified [RCV004115777] |
Chr14:88618771 [GRCh38]
Chr14:89085115 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.5597T>C (p.Met1866Thr) |
single nucleotide variant |
not specified [RCV004231595] |
Chr14:88618273 [GRCh38]
Chr14:89084617 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.5468T>C (p.Ile1823Thr) |
single nucleotide variant |
not specified [RCV004162836] |
Chr14:88618720 [GRCh38]
Chr14:89085064 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1894G>A (p.Glu632Lys) |
single nucleotide variant |
not specified [RCV004180046] |
Chr14:88609292 [GRCh38]
Chr14:89075636 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1455G>C (p.Glu485Asp) |
single nucleotide variant |
not specified [RCV004277808] |
Chr14:88602024 [GRCh38]
Chr14:89068368 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.839A>C (p.Asn280Thr) |
single nucleotide variant |
not specified [RCV004285057] |
Chr14:88572985 [GRCh38]
Chr14:89039329 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.4746C>G (p.Asn1582Lys) |
single nucleotide variant |
not specified [RCV004322620] |
Chr14:88625122 [GRCh38]
Chr14:89091466 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.634A>G (p.Ile212Val) |
single nucleotide variant |
not specified [RCV004256751] |
Chr14:88572780 [GRCh38]
Chr14:89039124 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1748C>T (p.Ala583Val) |
single nucleotide variant |
not specified [RCV004348554] |
Chr14:88607243 [GRCh38]
Chr14:89073587 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1234A>G (p.Ile412Val) |
single nucleotide variant |
not specified [RCV004350405] |
Chr14:88578095 [GRCh38]
Chr14:89044439 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.815C>T (p.Thr272Met) |
single nucleotide variant |
not specified [RCV004343292] |
Chr14:88572961 [GRCh38]
Chr14:89039305 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.439T>C (p.Tyr147His) |
single nucleotide variant |
not specified [RCV004363721] |
Chr14:88572585 [GRCh38]
Chr14:89038929 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1280-1664C>G |
single nucleotide variant |
not provided [RCV003393540] |
Chr14:88595070 [GRCh38]
Chr14:89061414 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_024824.5(ZC3H14):c.1929T>C (p.Tyr643=) |
single nucleotide variant |
not provided [RCV003393542] |
Chr14:88609327 [GRCh38]
Chr14:89075671 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_024824.5(ZC3H14):c.1968T>C (p.His656=) |
single nucleotide variant |
not provided [RCV003393543] |
Chr14:88609366 [GRCh38]
Chr14:89075710 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_183387.3(EML5):c.4993C>T (p.Arg1665Cys) |
single nucleotide variant |
not specified [RCV004358354] |
Chr14:88622624 [GRCh38]
Chr14:89088968 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.5588A>G (p.Lys1863Arg) |
single nucleotide variant |
not specified [RCV004339522] |
Chr14:88618282 [GRCh38]
Chr14:89084626 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 |
copy number gain |
not provided [RCV003485036] |
Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33 |
pathogenic |
| GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 |
copy number gain |
not provided [RCV003485051] |
Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33 |
pathogenic |
| NM_024824.5(ZC3H14):c.1571del (p.Gly524fs) |
deletion |
not specified [RCV003405061] |
Chr14:88602883 [GRCh38]
Chr14:89069227 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1187C>T (p.Ala396Val) |
single nucleotide variant |
not provided [RCV003393539] |
Chr14:88578048 [GRCh38]
Chr14:89044392 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1539T>C (p.Pro513=) |
single nucleotide variant |
not provided [RCV003393541] |
Chr14:88602852 [GRCh38]
Chr14:89069196 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_024824.5(ZC3H14):c.2184A>G (p.Lys728=) |
single nucleotide variant |
not provided [RCV003393544] |
Chr14:88610920 [GRCh38]
Chr14:89077264 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_183387.3(EML5):c.4812C>T (p.Ile1604=) |
single nucleotide variant |
not provided [RCV003393545] |
Chr14:88625056 [GRCh38]
Chr14:89091400 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_024824.5(ZC3H14):c.1746C>T (p.Asn582=) |
single nucleotide variant |
not provided [RCV003886880] |
Chr14:88603059 [GRCh38]
Chr14:89069403 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_024824.5(ZC3H14):c.153G>C (p.Leu51=) |
single nucleotide variant |
ZC3H14-related condition [RCV003894415] |
Chr14:88568112 [GRCh38]
Chr14:89034456 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_024824.5(ZC3H14):c.714G>A (p.Gln238=) |
single nucleotide variant |
ZC3H14-related condition [RCV003929789] |
Chr14:88572860 [GRCh38]
Chr14:89039204 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_024824.5(ZC3H14):c.429C>T (p.Val143=) |
single nucleotide variant |
ZC3H14-related condition [RCV003977044] |
Chr14:88572223 [GRCh38]
Chr14:89038567 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_024824.5(ZC3H14):c.51G>A (p.Gly17=) |
single nucleotide variant |
ZC3H14-related condition [RCV003942296] |
Chr14:88563665 [GRCh38]
Chr14:89030009 [GRCh37]
Chr14:14q31.3 |
likely benign |
| NM_183387.3(EML5):c.4723G>A (p.Ala1575Thr) |
single nucleotide variant |
not specified [RCV004382606] |
Chr14:88626855 [GRCh38]
Chr14:89093199 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.5911A>G (p.Lys1971Glu) |
single nucleotide variant |
not specified [RCV004382617] |
Chr14:88615841 [GRCh38]
Chr14:89082185 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.4846A>C (p.Met1616Leu) |
single nucleotide variant |
not specified [RCV004382608] |
Chr14:88625022 [GRCh38]
Chr14:89091366 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.5207T>C (p.Met1736Thr) |
single nucleotide variant |
not specified [RCV004382612] |
Chr14:88620922 [GRCh38]
Chr14:89087266 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.4817C>T (p.Ala1606Val) |
single nucleotide variant |
not specified [RCV004382607] |
Chr14:88625051 [GRCh38]
Chr14:89091395 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.5237C>T (p.Ala1746Val) |
single nucleotide variant |
not specified [RCV004382613] |
Chr14:88620892 [GRCh38]
Chr14:89087236 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.5495T>C (p.Phe1832Ser) |
single nucleotide variant |
not specified [RCV004382614] |
Chr14:88618693 [GRCh38]
Chr14:89085037 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.5561G>T (p.Arg1854Leu) |
single nucleotide variant |
not specified [RCV004382615] |
Chr14:88618309 [GRCh38]
Chr14:89084653 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.5807A>T (p.Lys1936Ile) |
single nucleotide variant |
not specified [RCV004382616] |
Chr14:88616232 [GRCh38]
Chr14:89082576 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.5019G>T (p.Lys1673Asn) |
single nucleotide variant |
not specified [RCV004382610] |
Chr14:88621296 [GRCh38]
Chr14:89087640 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.4952G>A (p.Arg1651His) |
single nucleotide variant |
not specified [RCV004382609] |
Chr14:88622665 [GRCh38]
Chr14:89089009 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_183387.3(EML5):c.5174C>T (p.Thr1725Ile) |
single nucleotide variant |
not specified [RCV004382611] |
Chr14:88621141 [GRCh38]
Chr14:89087485 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1096G>A (p.Val366Ile) |
single nucleotide variant |
not specified [RCV004481258] |
Chr14:88575913 [GRCh38]
Chr14:89042257 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.1544G>C (p.Ser515Thr) |
single nucleotide variant |
not specified [RCV004481259] |
Chr14:88602857 [GRCh38]
Chr14:89069201 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.2048G>A (p.Arg683His) |
single nucleotide variant |
not specified [RCV004481261] |
Chr14:88609754 [GRCh38]
Chr14:89076098 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.368G>A (p.Arg123Lys) |
single nucleotide variant |
not specified [RCV004481262] |
Chr14:88572162 [GRCh38]
Chr14:89038506 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.696G>T (p.Leu232Phe) |
single nucleotide variant |
not specified [RCV004481263] |
Chr14:88572842 [GRCh38]
Chr14:89039186 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
| NM_024824.5(ZC3H14):c.955G>A (p.Asp319Asn) |
single nucleotide variant |
not specified [RCV004481264] |
Chr14:88574786 [GRCh38]
Chr14:89041130 [GRCh37]
Chr14:14q31.3 |
uncertain significance |
