| NM_001371986.1(UNC80):c.7098G>C (p.Leu2366=) |
single nucleotide variant |
not provided [RCV000914432] |
Chr2:209945098 [GRCh38]
Chr2:210809822 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1063del (p.Tyr355fs) |
deletion |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001809472]|not provided [RCV000521806] |
Chr2:209813704 [GRCh38]
Chr2:210678428 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.8771_8772del (p.Lys2924fs) |
deletion |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000578280] |
Chr2:209976302..209976303 [GRCh38]
Chr2:210841026..210841027 [GRCh37]
Chr2:2q34 |
pathogenic |
| GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 |
copy number gain |
See cases [RCV000051119] |
Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3 |
pathogenic |
| GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] |
Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34 |
pathogenic |
| GRCh38/hg38 2q33.2-35(chr2:203010732-214671878)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|See cases [RCV000052607] |
Chr2:203010732..214671878 [GRCh38]
Chr2:203875455..215536602 [GRCh37]
Chr2:203583700..215244847 [NCBI36]
Chr2:2q33.2-35 |
pathogenic |
| GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 |
copy number gain |
See cases [RCV000052958] |
Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3 |
pathogenic |
| GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 |
copy number gain |
See cases [RCV000052959] |
Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3 |
pathogenic |
| GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] |
Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3 |
pathogenic |
| NM_032504.1(UNC80):c.881C>T (p.Ser294Phe) |
single nucleotide variant |
Malignant melanoma [RCV000065383] |
Chr2:209793802 [GRCh38]
Chr2:210658526 [GRCh37]
Chr2:210366771 [NCBI36]
Chr2:2q34 |
not provided |
| NM_032504.1(UNC80):c.3460+2984C>T |
single nucleotide variant |
Lung cancer [RCV000091846] |
Chr2:209845430 [GRCh38]
Chr2:210710154 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_032504.1(UNC80):c.3769C>A (p.Arg1257Ser) |
single nucleotide variant |
Lung cancer [RCV000091847] |
Chr2:209872893 [GRCh38]
Chr2:210737617 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9725C>A (p.Thr3242Asn) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001728119] |
Chr2:209995345 [GRCh38]
Chr2:210860069 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1418G>A (p.Gly473Glu) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001333340]|not provided [RCV001865781] |
Chr2:209816991 [GRCh38]
Chr2:210681715 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6723C>T (p.Gly2241=) |
single nucleotide variant |
not provided [RCV001964112] |
Chr2:209941297 [GRCh38]
Chr2:210806021 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1544C>A (p.Thr515Asn) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001333341]|Inborn genetic diseases [RCV002546627] |
Chr2:209817117 [GRCh38]
Chr2:210681841 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4099G>C (p.Glu1367Gln) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001333346]|not provided [RCV002546629] |
Chr2:209881083 [GRCh38]
Chr2:210745807 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4189G>T (p.Val1397Phe) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001333347] |
Chr2:209888173 [GRCh38]
Chr2:210752897 [GRCh37]
Chr2:2q34 |
uncertain significance |
| GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1 |
copy number loss |
See cases [RCV000139325] |
Chr2:207058886..211245603 [GRCh38]
Chr2:207923610..212110328 [GRCh37]
Chr2:207631855..211818573 [NCBI36]
Chr2:2q33.3-34 |
pathogenic |
| GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 |
copy number gain |
See cases [RCV000139446] |
Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2 |
pathogenic |
| GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1 |
copy number loss |
See cases [RCV000139629] |
Chr2:204906843..210031449 [GRCh38]
Chr2:205771566..210896173 [GRCh37]
Chr2:205479811..210604418 [NCBI36]
Chr2:2q33.3-34 |
pathogenic |
| GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 |
copy number loss |
See cases [RCV000141254] |
Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35 |
pathogenic |
| GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 |
copy number loss |
See cases [RCV000141076] |
Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34 |
pathogenic |
| GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 |
copy number gain |
See cases [RCV000142307] |
Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3 |
pathogenic |
| GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 |
copy number loss |
See cases [RCV000143301] |
Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34 |
pathogenic |
| NM_001371986.1(UNC80):c.3270A>C (p.Ser1090=) |
single nucleotide variant |
not provided [RCV002186069] |
Chr2:209840561 [GRCh38]
Chr2:210705285 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000258922]|Inborn genetic diseases [RCV002518797]|Intellectual disability [RCV001252621]|Neurodevelopmental delay [RCV002274004]|UNC80-related condition [RCV003909897]|not provided [RCV000963427]|not specified [RCV003987484] |
Chr2:209819105 [GRCh38]
Chr2:210683829 [GRCh37]
Chr2:2q34 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371986.1(UNC80):c.6805G>A (p.Asp2269Asn) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000258928]|not provided [RCV001855047] |
Chr2:209941379 [GRCh38]
Chr2:210806103 [GRCh37]
Chr2:2q34 |
likely pathogenic|uncertain significance |
| NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter) |
single nucleotide variant |
Encephalopathy [RCV000203562]|Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000207471]|UNC80-related condition [RCV003401100]|not provided [RCV003556261] |
Chr2:209813719 [GRCh38]
Chr2:210678443 [GRCh37]
Chr2:2q34 |
pathogenic|likely pathogenic |
| NM_001371986.1(UNC80):c.565G>A (p.Val189Met) |
single nucleotide variant |
Encephalopathy [RCV000203565]|Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000207459] |
Chr2:209777524 [GRCh38]
Chr2:210642248 [GRCh37]
Chr2:2q34 |
pathogenic|likely pathogenic |
| NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter) |
single nucleotide variant |
Encephalopathy [RCV000203568]|Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000207466] |
Chr2:209872917 [GRCh38]
Chr2:210737641 [GRCh37]
Chr2:2q34 |
pathogenic|likely pathogenic |
| NM_001371986.1(UNC80):c.8528C>T (p.Ala2843Val) |
single nucleotide variant |
UNC80-related condition [RCV003905314]|not provided [RCV000519127] |
Chr2:209973211 [GRCh38]
Chr2:210837935 [GRCh37]
Chr2:2q34 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371986.1(UNC80):c.5296C>T (p.Pro1766Ser) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000207456]|not provided [RCV001753625] |
Chr2:209918616 [GRCh38]
Chr2:210783340 [GRCh37]
Chr2:2q34 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371986.1(UNC80):c.7955T>A (p.Leu2652Ter) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000207460] |
Chr2:209967586 [GRCh38]
Chr2:210832310 [GRCh37]
Chr2:2q34 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001371986.1(UNC80):c.7805G>C (p.Arg2602Thr) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000207464] |
Chr2:209959707 [GRCh38]
Chr2:210824431 [GRCh37]
Chr2:2q34 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001371986.1(UNC80):c.151C>T (p.Arg51Ter) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000207465] |
Chr2:209775898 [GRCh38]
Chr2:210640622 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.2033del (p.Asn678fs) |
deletion |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000207469] |
Chr2:209820379 [GRCh38]
Chr2:210685103 [GRCh37]
Chr2:2q34 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001371986.1(UNC80):c.3877G>C (p.Glu1293Gln) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000764356]|Inborn genetic diseases [RCV000210574]|not provided [RCV000953187] |
Chr2:209877990 [GRCh38]
Chr2:210742714 [GRCh37]
Chr2:2q34 |
likely pathogenic|benign|uncertain significance |
| NM_001371986.1(UNC80):c.4144G>T (p.Glu1382Ter) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000496112] |
Chr2:209888128 [GRCh38]
Chr2:210752852 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.8698del (p.Trp2900fs) |
deletion |
not provided [RCV000392264] |
Chr2:209976227 [GRCh38]
Chr2:210840951 [GRCh37]
Chr2:2q34 |
pathogenic|likely pathogenic |
| NM_001371986.1(UNC80):c.2273G>C (p.Gly758Ala) |
single nucleotide variant |
not provided [RCV000522595] |
Chr2:209820621 [GRCh38]
Chr2:210685345 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2736C>A (p.Cys912Ter) |
single nucleotide variant |
not provided [RCV000579044] |
Chr2:209831552 [GRCh38]
Chr2:210696276 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.672C>T (p.Pro224=) |
single nucleotide variant |
UNC80-related condition [RCV003928232]|not provided [RCV000948619]|not specified [RCV000731019] |
Chr2:209786137 [GRCh38]
Chr2:210650861 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.3809A>G (p.Asn1270Ser) |
single nucleotide variant |
not provided [RCV000735098] |
Chr2:209872939 [GRCh38]
Chr2:210737663 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8772+2T>G |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000535565] |
Chr2:209976305 [GRCh38]
Chr2:210841029 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.7429del (p.Leu2477fs) |
deletion |
not provided [RCV000729680] |
Chr2:209954240 [GRCh38]
Chr2:210818964 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2012G>A (p.Arg671His) |
single nucleotide variant |
not provided [RCV000733694] |
Chr2:209820360 [GRCh38]
Chr2:210685084 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8461A>G (p.Ser2821Gly) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001329502]|not provided [RCV000733699] |
Chr2:209973144 [GRCh38]
Chr2:210837868 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.691G>A (p.Ala231Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002535109]|not provided [RCV000729217] |
Chr2:209786156 [GRCh38]
Chr2:210650880 [GRCh37]
Chr2:2q34 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371986.1(UNC80):c.4141C>G (p.Pro1381Ala) |
single nucleotide variant |
UNC80-related condition [RCV003947919]|not provided [RCV000729220] |
Chr2:209888125 [GRCh38]
Chr2:210752849 [GRCh37]
Chr2:2q34 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371986.1(UNC80):c.400G>A (p.Gly134Ser) |
single nucleotide variant |
Global developmental delay [RCV000449532]|not provided [RCV001851118] |
Chr2:209777359 [GRCh38]
Chr2:210642083 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9616C>T (p.Pro3206Ser) |
single nucleotide variant |
not provided [RCV000438438] |
Chr2:209994172 [GRCh38]
Chr2:210858896 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.600+5G>A |
single nucleotide variant |
UNC80-related condition [RCV003902469]|not provided [RCV000418910] |
Chr2:209777564 [GRCh38]
Chr2:210642288 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.3250+9A>G |
single nucleotide variant |
UNC80-related condition [RCV003932546]|not provided [RCV000422402] |
Chr2:209839439 [GRCh38]
Chr2:210704163 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 |
copy number gain |
See cases [RCV000448271] |
Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35 |
pathogenic |
| NM_001371986.1(UNC80):c.6373C>T (p.Arg2125Ter) |
single nucleotide variant |
not provided [RCV000486440] |
Chr2:209937538 [GRCh38]
Chr2:210802262 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.6893G>A (p.Trp2298Ter) |
single nucleotide variant |
not provided [RCV000486717] |
Chr2:209941467 [GRCh38]
Chr2:210806191 [GRCh37]
Chr2:2q34 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001371986.1(UNC80):c.8269G>T (p.Asp2757Tyr) |
single nucleotide variant |
not provided [RCV000498933] |
Chr2:209972213 [GRCh38]
Chr2:210836937 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.2399del (p.Leu800fs) |
deletion |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000496182] |
Chr2:209825972 [GRCh38]
Chr2:210690696 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.2527C>T (p.Arg843Ter) |
single nucleotide variant |
UNC80-Related Disorder [RCV000509402]|not provided [RCV000497405] |
Chr2:209829280 [GRCh38]
Chr2:210694004 [GRCh37]
Chr2:2q34 |
pathogenic|not provided |
| NM_001371986.1(UNC80):c.653T>C (p.Met218Thr) |
single nucleotide variant |
UNC80-Related Disorder [RCV000509542]|not provided [RCV000497922] |
Chr2:209786118 [GRCh38]
Chr2:210650842 [GRCh37]
Chr2:2q34 |
likely pathogenic|not provided |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001371986.1(UNC80):c.1513C>T (p.Arg505Ter) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003152719]|Hypotonia, infantile, with psychomotor retardation and characteristic facies [RCV000616574]|not provided [RCV001868020] |
Chr2:209817086 [GRCh38]
Chr2:210681810 [GRCh37]
Chr2:2q34 |
pathogenic|likely pathogenic |
| NM_001371986.1(UNC80):c.9503C>T (p.Pro3168Leu) |
single nucleotide variant |
UNC80-related condition [RCV003905287]|not provided [RCV000514665] |
Chr2:209993421 [GRCh38]
Chr2:210858145 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.9867T>A (p.His3289Gln) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000764357]|Inborn genetic diseases [RCV002528260]|not provided [RCV000519070] |
Chr2:209995487 [GRCh38]
Chr2:210860211 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9613G>T (p.Ala3205Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003295852] |
Chr2:209994169 [GRCh38]
Chr2:210858893 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9752C>G (p.Thr3251Arg) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002496979]|UNC80-related condition [RCV003902821]|not provided [RCV000514534] |
Chr2:209995372 [GRCh38]
Chr2:210860096 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.5161C>T (p.Arg1721Cys) |
single nucleotide variant |
not provided [RCV000656247] |
Chr2:209917908 [GRCh38]
Chr2:210782632 [GRCh37]
Chr2:2q34 |
likely pathogenic|uncertain significance |
| NM_001371986.1(UNC80):c.757C>G (p.Arg253Gly) |
single nucleotide variant |
not provided [RCV000597967] |
Chr2:209789564 [GRCh38]
Chr2:210654288 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3981T>C (p.Thr1327=) |
single nucleotide variant |
not provided [RCV003825432] |
Chr2:209880965 [GRCh38]
Chr2:210745689 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9448C>T (p.Arg3150Cys) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000662029]|Inborn genetic diseases [RCV002530590]|not provided [RCV001861724] |
Chr2:209993366 [GRCh38]
Chr2:210858090 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1653_1654dup (p.Asp552fs) |
duplication |
not provided [RCV000657514] |
Chr2:209817911..209817912 [GRCh38]
Chr2:210682635..210682636 [GRCh37]
Chr2:2q34 |
pathogenic|likely pathogenic |
| GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 |
copy number gain |
not provided [RCV000682166] |
Chr2:205169148..219149293 [GRCh37]
Chr2:2q33.3-35 |
pathogenic |
| NM_001371986.1(UNC80):c.3493G>C (p.Asp1165His) |
single nucleotide variant |
not provided [RCV001813865] |
Chr2:209849489 [GRCh38]
Chr2:210714213 [GRCh37]
Chr2:2q34 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| Single allele |
deletion |
Trichorhinophalangeal dysplasia type I [RCV000735898] |
Chr2:209425211..211567929 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.416C>T (p.Ser139Phe) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001728132] |
Chr2:209777375 [GRCh38]
Chr2:210642099 [GRCh37]
Chr2:2q34 |
uncertain significance |
| GRCh37/hg19 2q34(chr2:210860556-210893422)x3 |
copy number gain |
not provided [RCV000740859] |
Chr2:210860556..210893422 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.4116G>A (p.Leu1372=) |
single nucleotide variant |
not provided [RCV000915858] |
Chr2:209888100 [GRCh38]
Chr2:210752824 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.3882T>C (p.Ser1294=) |
single nucleotide variant |
not provided [RCV001531948] |
Chr2:209877995 [GRCh38]
Chr2:210742719 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9958G>A (p.Asp3320Asn) |
single nucleotide variant |
not provided [RCV001531950] |
Chr2:209995578 [GRCh38]
Chr2:210860302 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9614C>G (p.Ala3205Gly) |
single nucleotide variant |
not provided [RCV000893586] |
Chr2:209994170 [GRCh38]
Chr2:210858894 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.3455-13A>G |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002243429]|not provided [RCV001689484] |
Chr2:209849438 [GRCh38]
Chr2:210714162 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.6882C>T (p.Ser2294=) |
single nucleotide variant |
not provided [RCV000936079] |
Chr2:209941456 [GRCh38]
Chr2:210806180 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4890+7T>G |
single nucleotide variant |
not provided [RCV000894313] |
Chr2:209912674 [GRCh38]
Chr2:210777398 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.2028G>A (p.Ala676=) |
single nucleotide variant |
not provided [RCV001534677] |
Chr2:209820376 [GRCh38]
Chr2:210685100 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.404C>T (p.Thr135Ile) |
single nucleotide variant |
not provided [RCV000762315] |
Chr2:209777363 [GRCh38]
Chr2:210642087 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.4923G>T (p.Leu1641=) |
single nucleotide variant |
not provided [RCV000762316] |
Chr2:209913834 [GRCh38]
Chr2:210778558 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3853C>T (p.Arg1285Ter) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000986991]|not provided [RCV001858658] |
Chr2:209877966 [GRCh38]
Chr2:210742690 [GRCh37]
Chr2:2q34 |
pathogenic |
| GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 |
copy number gain |
See cases [RCV000790568] |
Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3 |
pathogenic |
| NM_001371986.1(UNC80):c.1112C>T (p.Pro371Leu) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003141919]|not provided [RCV000997651] |
Chr2:209813753 [GRCh38]
Chr2:210678477 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3206G>A (p.Arg1069Gln) |
single nucleotide variant |
not provided [RCV000997652] |
Chr2:209839386 [GRCh38]
Chr2:210704110 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1659C>G (p.Pro553=) |
single nucleotide variant |
UNC80-related condition [RCV003906035]|not provided [RCV000972222] |
Chr2:209817918 [GRCh38]
Chr2:210682642 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.1725G>A (p.Ala575=) |
single nucleotide variant |
UNC80-related condition [RCV003918488]|not provided [RCV000972223] |
Chr2:209819024 [GRCh38]
Chr2:210683748 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.2006G>C (p.Ser669Thr) |
single nucleotide variant |
UNC80-related condition [RCV003918489]|not provided [RCV000972224] |
Chr2:209820354 [GRCh38]
Chr2:210685078 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.3000T>C (p.Cys1000=) |
single nucleotide variant |
UNC80-related condition [RCV003960847]|not provided [RCV000972225] |
Chr2:209834969 [GRCh38]
Chr2:210699693 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.3078A>G (p.Lys1026=) |
single nucleotide variant |
UNC80-related condition [RCV003918490]|not provided [RCV000972226] |
Chr2:209839258 [GRCh38]
Chr2:210703982 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.3202T>G (p.Ser1068Ala) |
single nucleotide variant |
UNC80-related condition [RCV003906036]|not provided [RCV000972227] |
Chr2:209839382 [GRCh38]
Chr2:210704106 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.3264G>A (p.Lys1088=) |
single nucleotide variant |
UNC80-related condition [RCV003918491]|not provided [RCV000972228] |
Chr2:209840555 [GRCh38]
Chr2:210705279 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.9945G>A (p.Thr3315=) |
single nucleotide variant |
UNC80-related condition [RCV003920626]|not provided [RCV000885125] |
Chr2:209995565 [GRCh38]
Chr2:210860289 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.2382C>T (p.Ile794=) |
single nucleotide variant |
not provided [RCV000885134] |
Chr2:209825957 [GRCh38]
Chr2:210690681 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3873C>T (p.His1291=) |
single nucleotide variant |
not provided [RCV000923847] |
Chr2:209877986 [GRCh38]
Chr2:210742710 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2231A>G (p.Glu744Gly) |
single nucleotide variant |
UNC80-related condition [RCV003908395]|not provided [RCV000879808] |
Chr2:209820579 [GRCh38]
Chr2:210685303 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.3243C>T (p.Leu1081=) |
single nucleotide variant |
UNC80-related condition [RCV003983263]|not provided [RCV000904988] |
Chr2:209839423 [GRCh38]
Chr2:210704147 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.9885C>G (p.Gly3295=) |
single nucleotide variant |
UNC80-related condition [RCV003903017]|not provided [RCV000922913] |
Chr2:209995505 [GRCh38]
Chr2:210860229 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1938C>T (p.His646=) |
single nucleotide variant |
not provided [RCV000905035] |
Chr2:209819237 [GRCh38]
Chr2:210683961 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6165C>T (p.Thr2055=) |
single nucleotide variant |
UNC80-related condition [RCV003910813]|not provided [RCV000905036] |
Chr2:209933992 [GRCh38]
Chr2:210798716 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.6090C>T (p.Tyr2030=) |
single nucleotide variant |
not provided [RCV000884312] |
Chr2:209933917 [GRCh38]
Chr2:210798641 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.6555C>T (p.His2185=) |
single nucleotide variant |
not provided [RCV000903632] |
Chr2:209939561 [GRCh38]
Chr2:210804285 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2394G>A (p.Lys798=) |
single nucleotide variant |
not provided [RCV000892355] |
Chr2:209825969 [GRCh38]
Chr2:210690693 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.9702C>T (p.Pro3234=) |
single nucleotide variant |
not provided [RCV000927662] |
Chr2:209994258 [GRCh38]
Chr2:210858982 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1707C>T (p.Ile569=) |
single nucleotide variant |
not provided [RCV000923844] |
Chr2:209819006 [GRCh38]
Chr2:210683730 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.391C>T (p.Arg131Trp) |
single nucleotide variant |
UNC80-related condition [RCV003926273]|not provided [RCV000966146] |
Chr2:209777350 [GRCh38]
Chr2:210642074 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.5307C>T (p.Ser1769=) |
single nucleotide variant |
UNC80-related condition [RCV003962842]|not provided [RCV000967980] |
Chr2:209918627 [GRCh38]
Chr2:210783351 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.9078G>A (p.Ser3026=) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002479001]|not provided [RCV000882912] |
Chr2:209978668 [GRCh38]
Chr2:210843392 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.651C>T (p.Pro217=) |
single nucleotide variant |
not provided [RCV000902996] |
Chr2:209786116 [GRCh38]
Chr2:210650840 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8902C>T (p.Leu2968=) |
single nucleotide variant |
not provided [RCV000904766] |
Chr2:209977042 [GRCh38]
Chr2:210841766 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2346T>A (p.Pro782=) |
single nucleotide variant |
not provided [RCV000924521] |
Chr2:209825921 [GRCh38]
Chr2:210690645 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4851A>G (p.Gly1617=) |
single nucleotide variant |
not provided [RCV000883042] |
Chr2:209912628 [GRCh38]
Chr2:210777352 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4572G>A (p.Ser1524=) |
single nucleotide variant |
UNC80-related condition [RCV003943191]|not provided [RCV000969933] |
Chr2:209896404 [GRCh38]
Chr2:210761128 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5421A>T (p.Glu1807Asp) |
single nucleotide variant |
not specified [RCV000785016] |
Chr2:209921577 [GRCh38]
Chr2:210786301 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.601-5C>A |
single nucleotide variant |
not provided [RCV000895598] |
Chr2:209786061 [GRCh38]
Chr2:210650785 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8304C>T (p.Thr2768=) |
single nucleotide variant |
not provided [RCV000882367] |
Chr2:209972248 [GRCh38]
Chr2:210836972 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1620C>G (p.Ser540=) |
single nucleotide variant |
UNC80-related condition [RCV003928501]|not provided [RCV000970917] |
Chr2:209817879 [GRCh38]
Chr2:210682603 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.1014A>G (p.Leu338=) |
single nucleotide variant |
not provided [RCV000948620] |
Chr2:209813655 [GRCh38]
Chr2:210678379 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.960G>A (p.Pro320=) |
single nucleotide variant |
not provided [RCV000926719] |
Chr2:209813601 [GRCh38]
Chr2:210678325 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6060C>G (p.Thr2020=) |
single nucleotide variant |
not provided [RCV000926720] |
Chr2:209933887 [GRCh38]
Chr2:210798611 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4699C>T (p.Leu1567=) |
single nucleotide variant |
not provided [RCV000901731] |
Chr2:209904882 [GRCh38]
Chr2:210769606 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4203T>C (p.Asn1401=) |
single nucleotide variant |
not provided [RCV000894312] |
Chr2:209888187 [GRCh38]
Chr2:210752911 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6024C>T (p.Thr2008=) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003141895]|not provided [RCV000914537] |
Chr2:209933851 [GRCh38]
Chr2:210798575 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.4863C>T (p.Ser1621=) |
single nucleotide variant |
not provided [RCV000892056] |
Chr2:209912640 [GRCh38]
Chr2:210777364 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3969A>G (p.Leu1323=) |
single nucleotide variant |
not provided [RCV000918545] |
Chr2:209878082 [GRCh38]
Chr2:210742806 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.765T>C (p.Cys255=) |
single nucleotide variant |
UNC80-related condition [RCV003978245]|not provided [RCV000953186] |
Chr2:209789572 [GRCh38]
Chr2:210654296 [GRCh37]
Chr2:2q34 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001371986.1(UNC80):c.8967C>T (p.Thr2989=) |
single nucleotide variant |
not provided [RCV000953342] |
Chr2:209978557 [GRCh38]
Chr2:210843281 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5520G>A (p.Pro1840=) |
single nucleotide variant |
not provided [RCV000939284] |
Chr2:209921676 [GRCh38]
Chr2:210786400 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8880C>T (p.Leu2960=) |
single nucleotide variant |
not provided [RCV000880017] |
Chr2:209977020 [GRCh38]
Chr2:210841744 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4821G>A (p.Lys1607=) |
single nucleotide variant |
not provided [RCV000896283] |
Chr2:209912598 [GRCh38]
Chr2:210777322 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9453A>G (p.Gln3151=) |
single nucleotide variant |
not provided [RCV000943750] |
Chr2:209993371 [GRCh38]
Chr2:210858095 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5469C>T (p.Pro1823=) |
single nucleotide variant |
not provided [RCV000909160] |
Chr2:209921625 [GRCh38]
Chr2:210786349 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8412G>A (p.Gln2804=) |
single nucleotide variant |
not provided [RCV000937198] |
Chr2:209973095 [GRCh38]
Chr2:210837819 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4545G>A (p.Ala1515=) |
single nucleotide variant |
not provided [RCV000916376] |
Chr2:209896377 [GRCh38]
Chr2:210761101 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1392A>G (p.Thr464=) |
single nucleotide variant |
not provided [RCV000916501] |
Chr2:209816965 [GRCh38]
Chr2:210681689 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.180C>T (p.Gly60=) |
single nucleotide variant |
not provided [RCV000946668] |
Chr2:209775927 [GRCh38]
Chr2:210640651 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.6148G>C (p.Val2050Leu) |
single nucleotide variant |
not provided [RCV000946669] |
Chr2:209933975 [GRCh38]
Chr2:210798699 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.9144G>A (p.Val3048=) |
single nucleotide variant |
not provided [RCV000919996] |
Chr2:209982204 [GRCh38]
Chr2:210846928 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2616G>A (p.Pro872=) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002501369]|UNC80-related condition [RCV003955802]|not provided [RCV000880078] |
Chr2:209829369 [GRCh38]
Chr2:210694093 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3765C>T (p.Arg1255=) |
single nucleotide variant |
not provided [RCV000928514] |
Chr2:209872895 [GRCh38]
Chr2:210737619 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6750C>T (p.Asp2250=) |
single nucleotide variant |
not provided [RCV000929880] |
Chr2:209941324 [GRCh38]
Chr2:210806048 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9807T>C (p.Pro3269=) |
single nucleotide variant |
not provided [RCV000880580] |
Chr2:209995427 [GRCh38]
Chr2:210860151 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.9933G>A (p.Glu3311=) |
single nucleotide variant |
not provided [RCV000974503] |
Chr2:209995553 [GRCh38]
Chr2:210860277 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.6274-10A>T |
single nucleotide variant |
not provided [RCV000915703] |
Chr2:209936834 [GRCh38]
Chr2:210801558 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5289G>A (p.Pro1763=) |
single nucleotide variant |
not provided [RCV000915721] |
Chr2:209918609 [GRCh38]
Chr2:210783333 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1818G>A (p.Pro606=) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001809869]|not provided [RCV000914042]|not specified [RCV003987739] |
Chr2:209819117 [GRCh38]
Chr2:210683841 [GRCh37]
Chr2:2q34 |
benign|likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.5618G>A (p.Arg1873His) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000986992]|not provided [RCV001858659] |
Chr2:209922339 [GRCh38]
Chr2:210787063 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1357del (p.Arg453fs) |
deletion |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001029753] |
Chr2:209816929 [GRCh38]
Chr2:210681653 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| Single allele |
duplication |
Neurodevelopmental disorder [RCV000787403] |
Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2 |
pathogenic |
| NM_001371986.1(UNC80):c.3273C>T (p.Ser1091=) |
single nucleotide variant |
not provided [RCV000943105] |
Chr2:209840564 [GRCh38]
Chr2:210705288 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9449G>A (p.Arg3150His) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001334363]|not provided [RCV000981843] |
Chr2:209993367 [GRCh38]
Chr2:210858091 [GRCh37]
Chr2:2q34 |
benign|uncertain significance |
| NM_001371986.1(UNC80):c.6702G>A (p.Leu2234=) |
single nucleotide variant |
UNC80-related condition [RCV003950513]|not provided [RCV000898407] |
Chr2:209941276 [GRCh38]
Chr2:210806000 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8002T>C (p.Leu2668=) |
single nucleotide variant |
not provided [RCV000917134] |
Chr2:209967633 [GRCh38]
Chr2:210832357 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1713C>T (p.Thr571=) |
single nucleotide variant |
not provided [RCV000940533] |
Chr2:209819012 [GRCh38]
Chr2:210683736 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6357C>T (p.Tyr2119=) |
single nucleotide variant |
not provided [RCV000960238] |
Chr2:209936927 [GRCh38]
Chr2:210801651 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.8314C>T (p.Arg2772Ter) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000845229] |
Chr2:209972258 [GRCh38]
Chr2:210836982 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.520C>T (p.Arg174Ter) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000845230]|not provided [RCV002536162] |
Chr2:209777479 [GRCh38]
Chr2:210642203 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.1681_1682del (p.Thr561fs) |
microsatellite |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000845231] |
Chr2:209817938..209817939 [GRCh38]
Chr2:210682662..210682663 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.5869C>T (p.Arg1957Ter) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000845232]|See cases [RCV002252254]|not provided [RCV002272373] |
Chr2:209929933 [GRCh38]
Chr2:210794657 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.8256+2T>G |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000845233] |
Chr2:209970959 [GRCh38]
Chr2:210835683 [GRCh37]
Chr2:2q34 |
pathogenic|likely pathogenic |
| NM_001371986.1(UNC80):c.601-1G>A |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000845234]|not provided [RCV001869285] |
Chr2:209786065 [GRCh38]
Chr2:210650789 [GRCh37]
Chr2:2q34 |
pathogenic|likely pathogenic |
| NM_001371986.1(UNC80):c.5570_5571del (p.Val1857fs) |
microsatellite |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003331058]|not provided [RCV001169938] |
Chr2:209922289..209922290 [GRCh38]
Chr2:210787013..210787014 [GRCh37]
Chr2:2q34 |
pathogenic|likely pathogenic |
| NM_001371986.1(UNC80):c.5127C>T (p.Asn1709=) |
single nucleotide variant |
UNC80-related condition [RCV003902925]|not provided [RCV000914043] |
Chr2:209917874 [GRCh38]
Chr2:210782598 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001270111]|UNC80-related condition [RCV003930808]|not provided [RCV000891725] |
Chr2:209995380 [GRCh38]
Chr2:210860104 [GRCh37]
Chr2:2q34 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001371986.1(UNC80):c.3276C>T (p.Leu1092=) |
single nucleotide variant |
not provided [RCV000936610] |
Chr2:209840567 [GRCh38]
Chr2:210705291 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8602C>G (p.Leu2868Val) |
single nucleotide variant |
not provided [RCV002001625] |
Chr2:209976133 [GRCh38]
Chr2:210840857 [GRCh37]
Chr2:2q34 |
uncertain significance |
| GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 |
copy number gain |
not provided [RCV001005349] |
Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34 |
pathogenic |
| NM_001371986.1(UNC80):c.8009G>A (p.Arg2670Gln) |
single nucleotide variant |
not provided [RCV000997653] |
Chr2:209969770 [GRCh38]
Chr2:210834494 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9179T>C (p.Ile3060Thr) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001249750]|not provided [RCV001773569] |
Chr2:209982239 [GRCh38]
Chr2:210846963 [GRCh37]
Chr2:2q34 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371986.1(UNC80):c.5429A>C (p.Lys1810Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003290055] |
Chr2:209921585 [GRCh38]
Chr2:210786309 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3854G>A (p.Arg1285Gln) |
single nucleotide variant |
not provided [RCV003105100] |
Chr2:209877967 [GRCh38]
Chr2:210742691 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3200G>A (p.Arg1067His) |
single nucleotide variant |
not provided [RCV003105214] |
Chr2:209839380 [GRCh38]
Chr2:210704104 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8588C>T (p.Ala2863Val) |
single nucleotide variant |
not provided [RCV003107213] |
Chr2:209976119 [GRCh38]
Chr2:210840843 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2046C>T (p.Cys682=) |
single nucleotide variant |
not provided [RCV003107217] |
Chr2:209820394 [GRCh38]
Chr2:210685118 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6783G>A (p.Gly2261=) |
single nucleotide variant |
not provided [RCV000933529] |
Chr2:209941357 [GRCh38]
Chr2:210806081 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7506A>G (p.Gly2502=) |
single nucleotide variant |
not provided [RCV000927433] |
Chr2:209957692 [GRCh38]
Chr2:210822416 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3358-10C>T |
single nucleotide variant |
not provided [RCV000962956] |
Chr2:209842340 [GRCh38]
Chr2:210707064 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1585G>T (p.Ala529Ser) |
single nucleotide variant |
UNC80-related condition [RCV003918487]|not provided [RCV000972221] |
Chr2:209817844 [GRCh38]
Chr2:210682568 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.5268C>T (p.Ser1756=) |
single nucleotide variant |
not provided [RCV000887379] |
Chr2:209918588 [GRCh38]
Chr2:210783312 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3081T>C (p.Asp1027=) |
single nucleotide variant |
not provided [RCV000941034] |
Chr2:209839261 [GRCh38]
Chr2:210703985 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1851C>T (p.Asn617=) |
single nucleotide variant |
not provided [RCV000923216] |
Chr2:209819150 [GRCh38]
Chr2:210683874 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1917C>T (p.Asp639=) |
single nucleotide variant |
not provided [RCV000980830] |
Chr2:209819216 [GRCh38]
Chr2:210683940 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.92+7G>A |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001262237]|UNC80-related condition [RCV003930551]|not provided [RCV000881864] |
Chr2:209772171 [GRCh38]
Chr2:210636895 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.8275C>A (p.Pro2759Thr) |
single nucleotide variant |
not provided [RCV000906126] |
Chr2:209972219 [GRCh38]
Chr2:210836943 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.8968G>A (p.Val2990Met) |
single nucleotide variant |
not provided [RCV000920128] |
Chr2:209978558 [GRCh38]
Chr2:210843282 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.934T>G (p.Ser312Ala) |
single nucleotide variant |
not provided [RCV000917173] |
Chr2:209793855 [GRCh38]
Chr2:210658579 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8589G>A (p.Ala2863=) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002489428]|UNC80-related condition [RCV003936199]|not provided [RCV000974942] |
Chr2:209976120 [GRCh38]
Chr2:210840844 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.2874C>G (p.Ala958=) |
single nucleotide variant |
not provided [RCV000942316] |
Chr2:209834100 [GRCh38]
Chr2:210698824 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9597A>G (p.Leu3199=) |
single nucleotide variant |
not provided [RCV000939395] |
Chr2:209994153 [GRCh38]
Chr2:210858877 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3999C>T (p.Cys1333=) |
single nucleotide variant |
not provided [RCV000917370] |
Chr2:209880983 [GRCh38]
Chr2:210745707 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7963T>C (p.Leu2655=) |
single nucleotide variant |
not provided [RCV000938529] |
Chr2:209967594 [GRCh38]
Chr2:210832318 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.725-10G>A |
single nucleotide variant |
not provided [RCV000924429] |
Chr2:209789522 [GRCh38]
Chr2:210654246 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8166T>C (p.Asp2722=) |
single nucleotide variant |
UNC80-related condition [RCV003933144]|not provided [RCV000926721] |
Chr2:209970867 [GRCh38]
Chr2:210835591 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8381-9G>A |
single nucleotide variant |
not provided [RCV000979288] |
Chr2:209973055 [GRCh38]
Chr2:210837779 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4677C>G (p.Ala1559=) |
single nucleotide variant |
not provided [RCV000930068] |
Chr2:209904860 [GRCh38]
Chr2:210769584 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2942+8G>A |
single nucleotide variant |
not provided [RCV000907535] |
Chr2:209834176 [GRCh38]
Chr2:210698900 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7263G>T (p.Ala2421=) |
single nucleotide variant |
not provided [RCV000926904] |
Chr2:209945920 [GRCh38]
Chr2:210810644 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7533G>A (p.Ser2511=) |
single nucleotide variant |
not provided [RCV000902531] |
Chr2:209957719 [GRCh38]
Chr2:210822443 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1642A>G (p.Ser548Gly) |
single nucleotide variant |
not provided [RCV000933493] |
Chr2:209817901 [GRCh38]
Chr2:210682625 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.2281G>A (p.Gly761Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002560159]|not provided [RCV001863053]|not specified [RCV001192974] |
Chr2:209820629 [GRCh38]
Chr2:210685353 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7470C>T (p.Ala2490=) |
single nucleotide variant |
not provided [RCV000957563] |
Chr2:209957656 [GRCh38]
Chr2:210822380 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.4543G>A (p.Ala1515Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002540863]|not provided [RCV000913695] |
Chr2:209896375 [GRCh38]
Chr2:210761099 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7806-7A>T |
single nucleotide variant |
not provided [RCV000913805] |
Chr2:209967430 [GRCh38]
Chr2:210832154 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2220T>A (p.Gly740=) |
single nucleotide variant |
UNC80-related condition [RCV003933184]|not provided [RCV000934207] |
Chr2:209820568 [GRCh38]
Chr2:210685292 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.3926C>T (p.Thr1309Ile) |
single nucleotide variant |
not provided [RCV000958291] |
Chr2:209878039 [GRCh38]
Chr2:210742763 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.5030-5del |
deletion |
not provided [RCV000890760] |
Chr2:209917772 [GRCh38]
Chr2:210782496 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.9509-8A>G |
single nucleotide variant |
not provided [RCV000935255] |
Chr2:209994057 [GRCh38]
Chr2:210858781 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9141C>T (p.Ser3047=) |
single nucleotide variant |
not provided [RCV000890437] |
Chr2:209982201 [GRCh38]
Chr2:210846925 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.3358-1G>C |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV000986990] |
Chr2:209842349 [GRCh38]
Chr2:210707073 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.4481-5T>C |
single nucleotide variant |
UNC80-related condition [RCV003923165]|not provided [RCV000911647] |
Chr2:209896308 [GRCh38]
Chr2:210761032 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.2571T>C (p.Asn857=) |
single nucleotide variant |
not provided [RCV000935046] |
Chr2:209829324 [GRCh38]
Chr2:210694048 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8939-9A>G |
single nucleotide variant |
not provided [RCV000912782] |
Chr2:209978520 [GRCh38]
Chr2:210843244 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7415C>T (p.Thr2472Met) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001728118] |
Chr2:209954228 [GRCh38]
Chr2:210818952 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2228AAG[1] (p.Glu744del) |
microsatellite |
not provided [RCV002469590] |
Chr2:209820574..209820576 [GRCh38]
Chr2:210685298..210685300 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2431C>T (p.Arg811Ter) |
single nucleotide variant |
not provided [RCV002469816] |
Chr2:209826006 [GRCh38]
Chr2:210690730 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.2287G>A (p.Gly763Ser) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003233259] |
Chr2:209820635 [GRCh38]
Chr2:210685359 [GRCh37]
Chr2:2q34 |
not provided |
| NM_001371986.1(UNC80):c.3977-1G>T |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002465422] |
Chr2:209880960 [GRCh38]
Chr2:210745684 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs) |
deletion |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001029754] |
Chr2:209959602..209959603 [GRCh38]
Chr2:210824326..210824327 [GRCh37]
Chr2:2q34 |
pathogenic|likely pathogenic |
| NM_001371986.1(UNC80):c.9069G>A (p.Gln3023=) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002243367]|not provided [RCV001654946] |
Chr2:209978659 [GRCh38]
Chr2:210843383 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.3977-4C>A |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002243333]|not provided [RCV001617150] |
Chr2:209880957 [GRCh38]
Chr2:210745681 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.9224C>T (p.Pro3075Leu) |
single nucleotide variant |
not provided [RCV001863054]|not specified [RCV001192975] |
Chr2:209982284 [GRCh38]
Chr2:210847008 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4581+5G>T |
single nucleotide variant |
not provided [RCV001091189] |
Chr2:209896418 [GRCh38]
Chr2:210761142 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8723G>A (p.Arg2908Gln) |
single nucleotide variant |
not provided [RCV001531949] |
Chr2:209976254 [GRCh38]
Chr2:210840978 [GRCh37]
Chr2:2q34 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001371986.1(UNC80):c.8251A>T (p.Ile2751Leu) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001533168] |
Chr2:209970952 [GRCh38]
Chr2:210835676 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9877G>A (p.Glu3293Lys) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001837021]|Inborn genetic diseases [RCV002539601]|not provided [RCV001665297] |
Chr2:209995497 [GRCh38]
Chr2:210860221 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8511C>A (p.Cys2837Ter) |
single nucleotide variant |
not provided [RCV001091190] |
Chr2:209973194 [GRCh38]
Chr2:210837918 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.7394C>T (p.Ala2465Val) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001249708]|not provided [RCV001879759] |
Chr2:209954207 [GRCh38]
Chr2:210818931 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4565A>G (p.Asn1522Ser) |
single nucleotide variant |
Microcephaly [RCV001252800] |
Chr2:209896397 [GRCh38]
Chr2:210761121 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6646+1del |
deletion |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001253599] |
Chr2:209939652 [GRCh38]
Chr2:210804376 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.3161C>T (p.Thr1054Met) |
single nucleotide variant |
Inborn genetic diseases [RCV001267342]|not provided [RCV001880142] |
Chr2:209839341 [GRCh38]
Chr2:210704065 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8535A>G (p.Lys2845=) |
single nucleotide variant |
not provided [RCV002084522] |
Chr2:209973218 [GRCh38]
Chr2:210837942 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.152G>A (p.Arg51Gln) |
single nucleotide variant |
not provided [RCV002001624] |
Chr2:209775899 [GRCh38]
Chr2:210640623 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9472A>C (p.Thr3158Pro) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001334364] |
Chr2:209993390 [GRCh38]
Chr2:210858114 [GRCh37]
Chr2:2q34 |
uncertain significance |
| GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1 |
copy number loss |
not provided [RCV001258576] |
Chr2:204445619..212580788 [GRCh37]
Chr2:2q33.2-34 |
pathogenic |
| NM_001371986.1(UNC80):c.9116A>T (p.Glu3039Val) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001261621] |
Chr2:209978706 [GRCh38]
Chr2:210843430 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3405T>A (p.Ser1135Arg) |
single nucleotide variant |
not provided [RCV001888917] |
Chr2:209842397 [GRCh38]
Chr2:210707121 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2667C>A (p.Asn889Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003365627]|not provided [RCV002001475] |
Chr2:209831483 [GRCh38]
Chr2:210696207 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7189+4A>G |
single nucleotide variant |
not provided [RCV002284924] |
Chr2:209945193 [GRCh38]
Chr2:210809917 [GRCh37]
Chr2:2q34 |
uncertain significance |
| GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 |
copy number gain |
See cases [RCV001263052] |
Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3 |
pathogenic |
| NM_001371986.1(UNC80):c.3160A>C (p.Thr1054Pro) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001329498]|not provided [RCV001859263] |
Chr2:209839340 [GRCh38]
Chr2:210704064 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2213G>A (p.Gly738Glu) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001329495]|not provided [RCV001859261] |
Chr2:209820561 [GRCh38]
Chr2:210685285 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3042-1G>T |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001329497] |
Chr2:209839221 [GRCh38]
Chr2:210703945 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.3020G>C (p.Arg1007Pro) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001329496]|Inborn genetic diseases [RCV002546327]|not provided [RCV001859262] |
Chr2:209834989 [GRCh38]
Chr2:210699713 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9191G>A (p.Arg3064Gln) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001329505]|Inborn genetic diseases [RCV002546329]|not provided [RCV001863200] |
Chr2:209982251 [GRCh38]
Chr2:210846975 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9888G>C (p.Met3296Ile) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001334366]|Inborn genetic diseases [RCV003284212]|not provided [RCV001859324] |
Chr2:209995508 [GRCh38]
Chr2:210860232 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2436_2444del (p.Leu813_Gly815del) |
deletion |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001333344] |
Chr2:209826009..209826017 [GRCh38]
Chr2:210690733..210690741 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5860A>G (p.Thr1954Ala) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001334358]|not provided [RCV002547323] |
Chr2:209929924 [GRCh38]
Chr2:210794648 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7937C>T (p.Pro2646Leu) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001334361]|not provided [RCV002546681] |
Chr2:209967568 [GRCh38]
Chr2:210832292 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1313T>C (p.Leu438Pro) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001333339]|not provided [RCV001358347] |
Chr2:209815369 [GRCh38]
Chr2:210680093 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3589A>G (p.Ile1197Val) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001329500]|not provided [RCV001871799] |
Chr2:209849585 [GRCh38]
Chr2:210714309 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7880G>A (p.Arg2627Gln) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001329501]|Inborn genetic diseases [RCV002546328]|not provided [RCV001859264] |
Chr2:209967511 [GRCh38]
Chr2:210832235 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.9875A>G (p.Glu3292Gly) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001334365]|not provided [RCV001859323] |
Chr2:209995495 [GRCh38]
Chr2:210860219 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5050G>T (p.Ala1684Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002547638]|not provided [RCV001356603] |
Chr2:209917797 [GRCh38]
Chr2:210782521 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3350G>C (p.Ser1117Thr) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001333345]|Inborn genetic diseases [RCV002546628]|See cases [RCV002252363]|not provided [RCV001865782] |
Chr2:209840641 [GRCh38]
Chr2:210705365 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.9274G>A (p.Asp3092Asn) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001330148] |
Chr2:209984872 [GRCh38]
Chr2:210849596 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4781A>T (p.Glu1594Val) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001334357] |
Chr2:209904964 [GRCh38]
Chr2:210769688 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5467C>T (p.Pro1823Ser) |
single nucleotide variant |
not provided [RCV001963897] |
Chr2:209921623 [GRCh38]
Chr2:210786347 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1910A>G (p.His637Arg) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001329494]|not provided [RCV003106194] |
Chr2:209819209 [GRCh38]
Chr2:210683933 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3283C>T (p.Leu1095=) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001329499]|not provided [RCV003669231] |
Chr2:209840574 [GRCh38]
Chr2:210705298 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.1696C>T (p.Arg566Ter) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001329493] |
Chr2:209818995 [GRCh38]
Chr2:210683719 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.8773-16T>C |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001329503] |
Chr2:209976897 [GRCh38]
Chr2:210841621 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8815C>T (p.Arg2939Trp) |
single nucleotide variant |
not provided [RCV002578267] |
Chr2:209976955 [GRCh38]
Chr2:210841679 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001283842]|not provided [RCV001871648] |
Chr2:209777368 [GRCh38]
Chr2:210642092 [GRCh37]
Chr2:2q34 |
pathogenic|likely pathogenic |
| NM_001371986.1(UNC80):c.673G>A (p.Gly225Arg) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001334359]|not provided [RCV002293525] |
Chr2:209786138 [GRCh38]
Chr2:210650862 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7888A>G (p.Ile2630Val) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001334360]|not provided [RCV001859322] |
Chr2:209967519 [GRCh38]
Chr2:210832243 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8326A>T (p.Met2776Leu) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001334362] |
Chr2:209972270 [GRCh38]
Chr2:210836994 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1685T>A (p.Val562Asp) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001333343] |
Chr2:209817944 [GRCh38]
Chr2:210682668 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1221C>T (p.Asn407=) |
single nucleotide variant |
UNC80-related condition [RCV003940913]|not provided [RCV001513728] |
Chr2:209815277 [GRCh38]
Chr2:210680001 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.2295C>T (p.Gly765=) |
single nucleotide variant |
not provided [RCV001651876] |
Chr2:209820643 [GRCh38]
Chr2:210685367 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.1280G>A (p.Arg427His) |
single nucleotide variant |
not provided [RCV001592200] |
Chr2:209815336 [GRCh38]
Chr2:210680060 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9576G>A (p.Ala3192=) |
single nucleotide variant |
not provided [RCV001460864] |
Chr2:209994132 [GRCh38]
Chr2:210858856 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2398T>C (p.Leu800=) |
single nucleotide variant |
not provided [RCV003109113] |
Chr2:209825973 [GRCh38]
Chr2:210690697 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7891A>G (p.Met2631Val) |
single nucleotide variant |
not provided [RCV003108367] |
Chr2:209967522 [GRCh38]
Chr2:210832246 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9782C>T (p.Pro3261Leu) |
single nucleotide variant |
not provided [RCV003108611] |
Chr2:209995402 [GRCh38]
Chr2:210860126 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9119-8C>T |
single nucleotide variant |
not provided [RCV003108645] |
Chr2:209982171 [GRCh38]
Chr2:210846895 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5663-10C>T |
single nucleotide variant |
not provided [RCV003108925] |
Chr2:209926833 [GRCh38]
Chr2:210791557 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6726G>A (p.Met2242Ile) |
single nucleotide variant |
not specified [RCV002248926] |
Chr2:209941300 [GRCh38]
Chr2:210806024 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6359A>G (p.Asn2120Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003241685] |
Chr2:209936929 [GRCh38]
Chr2:210801653 [GRCh37]
Chr2:2q34 |
uncertain significance |
| GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) |
copy number loss |
Chromosome 2q32-q33 deletion syndrome [RCV002280608] |
Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001371986.1(UNC80):c.4582-2A>G |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001784007] |
Chr2:209904763 [GRCh38]
Chr2:210769487 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.2914C>T (p.Gln972Ter) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001785115] |
Chr2:209834140 [GRCh38]
Chr2:210698864 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.579del (p.Leu195fs) |
deletion |
not provided [RCV001765124] |
Chr2:209777538 [GRCh38]
Chr2:210642262 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4508C>T (p.Pro1503Leu) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003136141]|not provided [RCV001773354] |
Chr2:209896340 [GRCh38]
Chr2:210761064 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3550C>T (p.Arg1184Cys) |
single nucleotide variant |
not provided [RCV001774135] |
Chr2:209849546 [GRCh38]
Chr2:210714270 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3759_3764dup (p.Gly1254_Arg1255dup) |
duplication |
not provided [RCV001752859] |
Chr2:209872886..209872887 [GRCh38]
Chr2:210737610..210737611 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4517A>T (p.Glu1506Val) |
single nucleotide variant |
not provided [RCV001771258] |
Chr2:209896349 [GRCh38]
Chr2:210761073 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7218A>G (p.Thr2406=) |
single nucleotide variant |
not provided [RCV002074076] |
Chr2:209945875 [GRCh38]
Chr2:210810599 [GRCh37]
Chr2:2q34 |
pathogenic|benign |
| NM_001371986.1(UNC80):c.2331+1G>T |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001785116] |
Chr2:209820680 [GRCh38]
Chr2:210685404 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.2776-3C>G |
single nucleotide variant |
Moderate global developmental delay [RCV001800166] |
Chr2:209833999 [GRCh38]
Chr2:210698723 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.7870C>T (p.Arg2624Cys) |
single nucleotide variant |
not provided [RCV001797350] |
Chr2:209967501 [GRCh38]
Chr2:210832225 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2534C>T (p.Thr845Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002541077]|not provided [RCV001776824] |
Chr2:209829287 [GRCh38]
Chr2:210694011 [GRCh37]
Chr2:2q34 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371986.1(UNC80):c.5036T>C (p.Met1679Thr) |
single nucleotide variant |
not provided [RCV001816288] |
Chr2:209917783 [GRCh38]
Chr2:210782507 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8321A>T (p.Glu2774Val) |
single nucleotide variant |
not provided [RCV001816289] |
Chr2:209972265 [GRCh38]
Chr2:210836989 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3059G>C (p.Gly1020Ala) |
single nucleotide variant |
not provided [RCV001949786] |
Chr2:209839239 [GRCh38]
Chr2:210703963 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7685T>C (p.Leu2562Ser) |
single nucleotide variant |
not provided [RCV001987875] |
Chr2:209959587 [GRCh38]
Chr2:210824311 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.70A>G (p.Thr24Ala) |
single nucleotide variant |
not provided [RCV001988095] |
Chr2:209772142 [GRCh38]
Chr2:210636866 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5960C>T (p.Pro1987Leu) |
single nucleotide variant |
not provided [RCV001864420] |
Chr2:209931020 [GRCh38]
Chr2:210795744 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8940dup (p.Tyr2981fs) |
duplication |
not provided [RCV001949692] |
Chr2:209978528..209978529 [GRCh38]
Chr2:210843252..210843253 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.1799G>A (p.Cys600Tyr) |
single nucleotide variant |
not provided [RCV001988785] |
Chr2:209819098 [GRCh38]
Chr2:210683822 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2518A>G (p.Met840Val) |
single nucleotide variant |
not provided [RCV001912069] |
Chr2:209829271 [GRCh38]
Chr2:210693995 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2090AGA[1] (p.Lys698del) |
microsatellite |
not provided [RCV001987633] |
Chr2:209820437..209820439 [GRCh38]
Chr2:210685161..210685163 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2470C>T (p.Arg824Ter) |
single nucleotide variant |
not provided [RCV001863944] |
Chr2:209826045 [GRCh38]
Chr2:210690769 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.3485C>T (p.Pro1162Leu) |
single nucleotide variant |
not provided [RCV002008878] |
Chr2:209849481 [GRCh38]
Chr2:210714205 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6465+3G>A |
single nucleotide variant |
not provided [RCV001874815] |
Chr2:209937633 [GRCh38]
Chr2:210802357 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.142-3C>T |
single nucleotide variant |
not provided [RCV001987700] |
Chr2:209775886 [GRCh38]
Chr2:210640610 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7287-1G>A |
single nucleotide variant |
not provided [RCV001970579] |
Chr2:209954099 [GRCh38]
Chr2:210818823 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.5534A>T (p.Glu1845Val) |
single nucleotide variant |
not provided [RCV002025735] |
Chr2:209922255 [GRCh38]
Chr2:210786979 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2712G>C (p.Met904Ile) |
single nucleotide variant |
not provided [RCV001988716] |
Chr2:209831528 [GRCh38]
Chr2:210696252 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4000G>A (p.Gly1334Ser) |
single nucleotide variant |
not provided [RCV001947480] |
Chr2:209880984 [GRCh38]
Chr2:210745708 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3088C>T (p.Arg1030Cys) |
single nucleotide variant |
not provided [RCV001863510] |
Chr2:209839268 [GRCh38]
Chr2:210703992 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2929G>A (p.Ala977Thr) |
single nucleotide variant |
not provided [RCV001863972] |
Chr2:209834155 [GRCh38]
Chr2:210698879 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6428T>C (p.Met2143Thr) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002486642]|not provided [RCV002045305] |
Chr2:209937593 [GRCh38]
Chr2:210802317 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.724+20A>G |
single nucleotide variant |
not provided [RCV001915044] |
Chr2:209786209 [GRCh38]
Chr2:210650933 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.250C>T (p.His84Tyr) |
single nucleotide variant |
not provided [RCV001950646] |
Chr2:209775997 [GRCh38]
Chr2:210640721 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.505G>A (p.Glu169Lys) |
single nucleotide variant |
not provided [RCV001874949] |
Chr2:209777464 [GRCh38]
Chr2:210642188 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1273A>G (p.Asn425Asp) |
single nucleotide variant |
not provided [RCV001864622] |
Chr2:209815329 [GRCh38]
Chr2:210680053 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.173T>C (p.Leu58Pro) |
single nucleotide variant |
not provided [RCV002024144] |
Chr2:209775920 [GRCh38]
Chr2:210640644 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7112A>T (p.Gln2371Leu) |
single nucleotide variant |
not provided [RCV001970863] |
Chr2:209945112 [GRCh38]
Chr2:210809836 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1940A>G (p.Lys647Arg) |
single nucleotide variant |
not provided [RCV001929929] |
Chr2:209819239 [GRCh38]
Chr2:210683963 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8797C>A (p.His2933Asn) |
single nucleotide variant |
not provided [RCV001930028] |
Chr2:209976937 [GRCh38]
Chr2:210841661 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4100_4110+59del |
deletion |
not provided [RCV001984418] |
Chr2:209881081..209881150 [GRCh38]
Chr2:210745805..210745874 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.6800C>T (p.Pro2267Leu) |
single nucleotide variant |
not provided [RCV001968660] |
Chr2:209941374 [GRCh38]
Chr2:210806098 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9238G>A (p.Gly3080Ser) |
single nucleotide variant |
not provided [RCV001896028] |
Chr2:209982298 [GRCh38]
Chr2:210847022 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9214A>G (p.Met3072Val) |
single nucleotide variant |
not provided [RCV002045664] |
Chr2:209982274 [GRCh38]
Chr2:210846998 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9094C>T (p.Arg3032Trp) |
single nucleotide variant |
not provided [RCV001893067] |
Chr2:209978684 [GRCh38]
Chr2:210843408 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6095A>G (p.Glu2032Gly) |
single nucleotide variant |
not provided [RCV001895186] |
Chr2:209933922 [GRCh38]
Chr2:210798646 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3806G>T (p.Trp1269Leu) |
single nucleotide variant |
not provided [RCV001896781] |
Chr2:209872936 [GRCh38]
Chr2:210737660 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7052A>G (p.Asp2351Gly) |
single nucleotide variant |
not provided [RCV002025296] |
Chr2:209945052 [GRCh38]
Chr2:210809776 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6858C>A (p.His2286Gln) |
single nucleotide variant |
not provided [RCV001964366] |
Chr2:209941432 [GRCh38]
Chr2:210806156 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.872G>A (p.Arg291Gln) |
single nucleotide variant |
not provided [RCV001864187] |
Chr2:209793793 [GRCh38]
Chr2:210658517 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2737G>A (p.Ala913Thr) |
single nucleotide variant |
not provided [RCV001971302] |
Chr2:209831553 [GRCh38]
Chr2:210696277 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4621A>G (p.Thr1541Ala) |
single nucleotide variant |
not provided [RCV002023570] |
Chr2:209904804 [GRCh38]
Chr2:210769528 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1412G>A (p.Arg471Lys) |
single nucleotide variant |
not provided [RCV001966746] |
Chr2:209816985 [GRCh38]
Chr2:210681709 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.398G>C (p.Gly133Ala) |
single nucleotide variant |
not provided [RCV001908004] |
Chr2:209777357 [GRCh38]
Chr2:210642081 [GRCh37]
Chr2:2q34 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371986.1(UNC80):c.973C>T (p.Arg325Cys) |
single nucleotide variant |
not provided [RCV001863591] |
Chr2:209813614 [GRCh38]
Chr2:210678338 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5687C>T (p.Thr1896Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002573387]|not provided [RCV001970932] |
Chr2:209926867 [GRCh38]
Chr2:210791591 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2336A>C (p.Glu779Ala) |
single nucleotide variant |
not provided [RCV001950111] |
Chr2:209825911 [GRCh38]
Chr2:210690635 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.820del (p.Thr274fs) |
deletion |
not provided [RCV001914575] |
Chr2:209793739 [GRCh38]
Chr2:210658463 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.5216C>T (p.Pro1739Leu) |
single nucleotide variant |
not provided [RCV001945723] |
Chr2:209918536 [GRCh38]
Chr2:210783260 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.798G>A (p.Glu266=) |
single nucleotide variant |
not provided [RCV002024905] |
Chr2:209789605 [GRCh38]
Chr2:210654329 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2248G>A (p.Gly750Arg) |
single nucleotide variant |
not provided [RCV002008631] |
Chr2:209820596 [GRCh38]
Chr2:210685320 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8587+8C>A |
single nucleotide variant |
not provided [RCV001864352] |
Chr2:209973278 [GRCh38]
Chr2:210838002 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.5842C>G (p.Leu1948Val) |
single nucleotide variant |
not provided [RCV001970880] |
Chr2:209929906 [GRCh38]
Chr2:210794630 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9030C>T (p.Gly3010=) |
single nucleotide variant |
not provided [RCV001864052] |
Chr2:209978620 [GRCh38]
Chr2:210843344 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.5111C>A (p.Thr1704Asn) |
single nucleotide variant |
not provided [RCV002025504] |
Chr2:209917858 [GRCh38]
Chr2:210782582 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6883G>A (p.Gly2295Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002545865]|not provided [RCV001863857] |
Chr2:209941457 [GRCh38]
Chr2:210806181 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7540G>T (p.Val2514Leu) |
single nucleotide variant |
not provided [RCV002044914] |
Chr2:209957726 [GRCh38]
Chr2:210822450 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3761del (p.Gly1254fs) |
deletion |
not provided [RCV001914721] |
Chr2:209872888 [GRCh38]
Chr2:210737612 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.397G>A (p.Gly133Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002558476]|not provided [RCV001928711] |
Chr2:209777356 [GRCh38]
Chr2:210642080 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5519C>T (p.Pro1840Leu) |
single nucleotide variant |
not provided [RCV002044470] |
Chr2:209921675 [GRCh38]
Chr2:210786399 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5907+1G>A |
single nucleotide variant |
not provided [RCV002025184] |
Chr2:209929972 [GRCh38]
Chr2:210794696 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.496T>C (p.Ser166Pro) |
single nucleotide variant |
not provided [RCV002008106] |
Chr2:209777455 [GRCh38]
Chr2:210642179 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9745G>A (p.Glu3249Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002569280]|not provided [RCV001970480] |
Chr2:209995365 [GRCh38]
Chr2:210860089 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2597T>C (p.Leu866Pro) |
single nucleotide variant |
not provided [RCV001948500] |
Chr2:209829350 [GRCh38]
Chr2:210694074 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.610C>T (p.Leu204Phe) |
single nucleotide variant |
not provided [RCV002043794] |
Chr2:209786075 [GRCh38]
Chr2:210650799 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6712A>T (p.Met2238Leu) |
single nucleotide variant |
not provided [RCV001927911] |
Chr2:209941286 [GRCh38]
Chr2:210806010 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5690C>T (p.Pro1897Leu) |
single nucleotide variant |
not provided [RCV001909417] |
Chr2:209926870 [GRCh38]
Chr2:210791594 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7948C>G (p.Leu2650Val) |
single nucleotide variant |
not provided [RCV002003456] |
Chr2:209967579 [GRCh38]
Chr2:210832303 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8854C>G (p.Pro2952Ala) |
single nucleotide variant |
not provided [RCV001928105] |
Chr2:209976994 [GRCh38]
Chr2:210841718 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.299-10T>C |
single nucleotide variant |
not provided [RCV001873922] |
Chr2:209777248 [GRCh38]
Chr2:210641972 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2471G>A (p.Arg824Gln) |
single nucleotide variant |
not provided [RCV002039960] |
Chr2:209826046 [GRCh38]
Chr2:210690770 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8959A>G (p.Ile2987Val) |
single nucleotide variant |
not provided [RCV001968239] |
Chr2:209978549 [GRCh38]
Chr2:210843273 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1133T>C (p.Leu378Pro) |
single nucleotide variant |
not provided [RCV002006252] |
Chr2:209813774 [GRCh38]
Chr2:210678498 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9881A>G (p.Asn3294Ser) |
single nucleotide variant |
not provided [RCV001891131] |
Chr2:209995501 [GRCh38]
Chr2:210860225 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9017G>T (p.Arg3006Leu) |
single nucleotide variant |
not provided [RCV001891169] |
Chr2:209978607 [GRCh38]
Chr2:210843331 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5925G>T (p.Met1975Ile) |
single nucleotide variant |
not provided [RCV001912433] |
Chr2:209930985 [GRCh38]
Chr2:210795709 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6850G>A (p.Ala2284Thr) |
single nucleotide variant |
not provided [RCV002023215] |
Chr2:209941424 [GRCh38]
Chr2:210806148 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3514G>A (p.Val1172Met) |
single nucleotide variant |
not provided [RCV001872131] |
Chr2:209849510 [GRCh38]
Chr2:210714234 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1201-10C>A |
single nucleotide variant |
not provided [RCV002043058] |
Chr2:209815247 [GRCh38]
Chr2:210679971 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8014G>C (p.Val2672Leu) |
single nucleotide variant |
not provided [RCV001965236] |
Chr2:209969775 [GRCh38]
Chr2:210834499 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1981T>C (p.Tyr661His) |
single nucleotide variant |
not provided [RCV002004065] |
Chr2:209820329 [GRCh38]
Chr2:210685053 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4633T>C (p.Tyr1545His) |
single nucleotide variant |
not provided [RCV001891347] |
Chr2:209904816 [GRCh38]
Chr2:210769540 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9718T>C (p.Phe3240Leu) |
single nucleotide variant |
not provided [RCV001983528] |
Chr2:209995338 [GRCh38]
Chr2:210860062 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4627G>T (p.Val1543Phe) |
single nucleotide variant |
not provided [RCV001894253] |
Chr2:209904810 [GRCh38]
Chr2:210769534 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3514G>T (p.Val1172Leu) |
single nucleotide variant |
not provided [RCV001893966] |
Chr2:209849510 [GRCh38]
Chr2:210714234 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9574G>A (p.Ala3192Thr) |
single nucleotide variant |
not provided [RCV001910107] |
Chr2:209994130 [GRCh38]
Chr2:210858854 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.6801G>A (p.Pro2267=) |
single nucleotide variant |
not provided [RCV002043154] |
Chr2:209941375 [GRCh38]
Chr2:210806099 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.106C>G (p.Pro36Ala) |
single nucleotide variant |
not provided [RCV001983741] |
Chr2:209773107 [GRCh38]
Chr2:210637831 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2692G>A (p.Gly898Ser) |
single nucleotide variant |
not provided [RCV001947259] |
Chr2:209831508 [GRCh38]
Chr2:210696232 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9460C>T (p.Arg3154Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002551061]|not provided [RCV001870628] |
Chr2:209993378 [GRCh38]
Chr2:210858102 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6751G>A (p.Glu2251Lys) |
single nucleotide variant |
not provided [RCV002001465] |
Chr2:209941325 [GRCh38]
Chr2:210806049 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.9026C>T (p.Thr3009Met) |
single nucleotide variant |
not provided [RCV002021006] |
Chr2:209978616 [GRCh38]
Chr2:210843340 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5211+8A>G |
single nucleotide variant |
not provided [RCV001908262] |
Chr2:209917966 [GRCh38]
Chr2:210782690 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.8993G>A (p.Arg2998His) |
single nucleotide variant |
not provided [RCV002004508] |
Chr2:209978583 [GRCh38]
Chr2:210843307 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5105C>T (p.Pro1702Leu) |
single nucleotide variant |
not provided [RCV001945781] |
Chr2:209917852 [GRCh38]
Chr2:210782576 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8027C>T (p.Pro2676Leu) |
single nucleotide variant |
not provided [RCV002004566] |
Chr2:209969788 [GRCh38]
Chr2:210834512 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8504C>G (p.Ala2835Gly) |
single nucleotide variant |
not provided [RCV001911849] |
Chr2:209973187 [GRCh38]
Chr2:210837911 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4511G>C (p.Ser1504Thr) |
single nucleotide variant |
not provided [RCV002042473] |
Chr2:209896343 [GRCh38]
Chr2:210761067 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5815G>A (p.Val1939Met) |
single nucleotide variant |
not provided [RCV002004573] |
Chr2:209929879 [GRCh38]
Chr2:210794603 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6032A>G (p.Glu2011Gly) |
single nucleotide variant |
not provided [RCV001893193] |
Chr2:209933859 [GRCh38]
Chr2:210798583 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8306A>G (p.Asn2769Ser) |
single nucleotide variant |
not provided [RCV001945866] |
Chr2:209972250 [GRCh38]
Chr2:210836974 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3373G>T (p.Ala1125Ser) |
single nucleotide variant |
not provided [RCV001945897] |
Chr2:209842365 [GRCh38]
Chr2:210707089 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5641C>T (p.Arg1881Cys) |
single nucleotide variant |
not provided [RCV002004738] |
Chr2:209922362 [GRCh38]
Chr2:210787086 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2234G>C (p.Gly745Ala) |
single nucleotide variant |
not provided [RCV001984059] |
Chr2:209820582 [GRCh38]
Chr2:210685306 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.383A>G (p.Asn128Ser) |
single nucleotide variant |
not provided [RCV002041124] |
Chr2:209777342 [GRCh38]
Chr2:210642066 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3274C>T (p.Leu1092Phe) |
single nucleotide variant |
not provided [RCV001926812] |
Chr2:209840565 [GRCh38]
Chr2:210705289 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.298+2T>C |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002498069]|Inborn genetic diseases [RCV002548907]|not provided [RCV002021805] |
Chr2:209776047 [GRCh38]
Chr2:210640771 [GRCh37]
Chr2:2q34 |
likely pathogenic|uncertain significance |
| NM_001371986.1(UNC80):c.9497C>T (p.Thr3166Met) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002471222]|not provided [RCV002041263] |
Chr2:209993415 [GRCh38]
Chr2:210858139 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6927C>G (p.Asp2309Glu) |
single nucleotide variant |
not provided [RCV001985241] |
Chr2:209943391 [GRCh38]
Chr2:210808115 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3251G>A (p.Gly1084Glu) |
single nucleotide variant |
not provided [RCV001910892] |
Chr2:209840542 [GRCh38]
Chr2:210705266 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.902C>T (p.Ser301Phe) |
single nucleotide variant |
not provided [RCV001964586] |
Chr2:209793823 [GRCh38]
Chr2:210658547 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.8675G>A (p.Arg2892Gln) |
single nucleotide variant |
not provided [RCV001985161] |
Chr2:209976206 [GRCh38]
Chr2:210840930 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8795A>C (p.Asn2932Thr) |
single nucleotide variant |
not provided [RCV002023562] |
Chr2:209976935 [GRCh38]
Chr2:210841659 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7574T>C (p.Leu2525Pro) |
single nucleotide variant |
not provided [RCV001894934] |
Chr2:209959142 [GRCh38]
Chr2:210823866 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9520C>T (p.Arg3174Ter) |
single nucleotide variant |
not provided [RCV001949379] |
Chr2:209994076 [GRCh38]
Chr2:210858800 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.-52_45dup (p.Arg16Ter) |
duplication |
not provided [RCV002039883] |
Chr2:209772013..209772014 [GRCh38]
Chr2:210636737..210636738 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7030G>A (p.Ala2344Thr) |
single nucleotide variant |
not provided [RCV001892843] |
Chr2:209943494 [GRCh38]
Chr2:210808218 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1858C>T (p.Arg620Ter) |
single nucleotide variant |
not provided [RCV001911822] |
Chr2:209819157 [GRCh38]
Chr2:210683881 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.2528G>A (p.Arg843Gln) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003136200]|not provided [RCV002044564] |
Chr2:209829281 [GRCh38]
Chr2:210694005 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4161A>T (p.Arg1387Ser) |
single nucleotide variant |
not provided [RCV001891123] |
Chr2:209888145 [GRCh38]
Chr2:210752869 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6856C>A (p.His2286Asn) |
single nucleotide variant |
not provided [RCV001983190] |
Chr2:209941430 [GRCh38]
Chr2:210806154 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9934C>A (p.Leu3312Met) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV001839144] |
Chr2:209995554 [GRCh38]
Chr2:210860278 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6977A>G (p.Gln2326Arg) |
single nucleotide variant |
not provided [RCV002023047] |
Chr2:209943441 [GRCh38]
Chr2:210808165 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9521G>T (p.Arg3174Leu) |
single nucleotide variant |
not provided [RCV002043949] |
Chr2:209994077 [GRCh38]
Chr2:210858801 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3724CAC[3] (p.His1243dup) |
microsatellite |
not provided [RCV001986956] |
Chr2:209872853..209872854 [GRCh38]
Chr2:210737577..210737578 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5243C>G (p.Pro1748Arg) |
single nucleotide variant |
not provided [RCV001928493] |
Chr2:209918563 [GRCh38]
Chr2:210783287 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7855C>A (p.Gln2619Lys) |
single nucleotide variant |
not provided [RCV002003879] |
Chr2:209967486 [GRCh38]
Chr2:210832210 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2950G>A (p.Ala984Thr) |
single nucleotide variant |
not provided [RCV002003982] |
Chr2:209834919 [GRCh38]
Chr2:210699643 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.724+6T>G |
single nucleotide variant |
not provided [RCV002043604] |
Chr2:209786195 [GRCh38]
Chr2:210650919 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1069C>G (p.Gln357Glu) |
single nucleotide variant |
not provided [RCV002007893] |
Chr2:209813710 [GRCh38]
Chr2:210678434 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4768A>G (p.Lys1590Glu) |
single nucleotide variant |
not provided [RCV001983496] |
Chr2:209904951 [GRCh38]
Chr2:210769675 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7532C>T (p.Ser2511Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002554283]|not provided [RCV001912773] |
Chr2:209957718 [GRCh38]
Chr2:210822442 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2176A>G (p.Thr726Ala) |
single nucleotide variant |
not provided [RCV001969550] |
Chr2:209820524 [GRCh38]
Chr2:210685248 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2750A>G (p.His917Arg) |
single nucleotide variant |
not provided [RCV002024684] |
Chr2:209831566 [GRCh38]
Chr2:210696290 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7338G>T (p.Lys2446Asn) |
single nucleotide variant |
not provided [RCV001983628] |
Chr2:209954151 [GRCh38]
Chr2:210818875 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.715A>G (p.Ile239Val) |
single nucleotide variant |
not provided [RCV002040595] |
Chr2:209786180 [GRCh38]
Chr2:210650904 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.386A>G (p.Asn129Ser) |
single nucleotide variant |
not provided [RCV001946174] |
Chr2:209777345 [GRCh38]
Chr2:210642069 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5179C>T (p.Arg1727Trp) |
single nucleotide variant |
not provided [RCV002005942] |
Chr2:209917926 [GRCh38]
Chr2:210782650 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3110G>C (p.Ser1037Thr) |
single nucleotide variant |
not provided [RCV001894298] |
Chr2:209839290 [GRCh38]
Chr2:210704014 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5371C>T (p.Arg1791Cys) |
single nucleotide variant |
not provided [RCV001872227] |
Chr2:209921527 [GRCh38]
Chr2:210786251 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8543G>A (p.Arg2848His) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003138010]|not provided [RCV001983772] |
Chr2:209973226 [GRCh38]
Chr2:210837950 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.757C>T (p.Arg253Trp) |
single nucleotide variant |
not provided [RCV001913449] |
Chr2:209789564 [GRCh38]
Chr2:210654288 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6995G>A (p.Arg2332Gln) |
single nucleotide variant |
not provided [RCV001890132] |
Chr2:209943459 [GRCh38]
Chr2:210808183 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8077A>G (p.Ile2693Val) |
single nucleotide variant |
not provided [RCV002004510] |
Chr2:209969838 [GRCh38]
Chr2:210834562 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5182A>G (p.Met1728Val) |
single nucleotide variant |
not provided [RCV001969704] |
Chr2:209917929 [GRCh38]
Chr2:210782653 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1843T>C (p.Cys615Arg) |
single nucleotide variant |
not provided [RCV002002885] |
Chr2:209819142 [GRCh38]
Chr2:210683866 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8542C>T (p.Arg2848Cys) |
single nucleotide variant |
not provided [RCV002041492] |
Chr2:209973225 [GRCh38]
Chr2:210837949 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4667G>A (p.Arg1556His) |
single nucleotide variant |
not provided [RCV002022768] |
Chr2:209904850 [GRCh38]
Chr2:210769574 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5972C>G (p.Ser1991Cys) |
single nucleotide variant |
not provided [RCV001870928] |
Chr2:209931032 [GRCh38]
Chr2:210795756 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8380G>C (p.Asp2794His) |
single nucleotide variant |
not provided [RCV001969332] |
Chr2:209972324 [GRCh38]
Chr2:210837048 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.373C>A (p.Gln125Lys) |
single nucleotide variant |
not provided [RCV001890703] |
Chr2:209777332 [GRCh38]
Chr2:210642056 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5477A>G (p.Gln1826Arg) |
single nucleotide variant |
not provided [RCV002003359] |
Chr2:209921633 [GRCh38]
Chr2:210786357 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3428A>C (p.Glu1143Ala) |
single nucleotide variant |
UNC80-related condition [RCV003958412]|not provided [RCV001909506] |
Chr2:209842420 [GRCh38]
Chr2:210707144 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.5994G>T (p.Leu1998Phe) |
single nucleotide variant |
not provided [RCV002040864] |
Chr2:209931054 [GRCh38]
Chr2:210795778 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3329G>A (p.Arg1110Gln) |
single nucleotide variant |
not provided [RCV001986466] |
Chr2:209840620 [GRCh38]
Chr2:210705344 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1064A>G (p.Tyr355Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002551138]|not provided [RCV001872722] |
Chr2:209813705 [GRCh38]
Chr2:210678429 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1996C>G (p.His666Asp) |
single nucleotide variant |
not provided [RCV001893122] |
Chr2:209820344 [GRCh38]
Chr2:210685068 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2063T>C (p.Val688Ala) |
single nucleotide variant |
not provided [RCV001912195] |
Chr2:209820411 [GRCh38]
Chr2:210685135 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.994G>A (p.Val332Ile) |
single nucleotide variant |
not provided [RCV002021902] |
Chr2:209813635 [GRCh38]
Chr2:210678359 [GRCh37]
Chr2:2q34 |
uncertain significance |
| GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) |
copy number gain |
not specified [RCV002053265] |
Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35 |
pathogenic |
| NM_001371986.1(UNC80):c.6645_6646+3dup |
duplication |
not provided [RCV001968727] |
Chr2:209939649..209939650 [GRCh38]
Chr2:210804373..210804374 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.911C>T (p.Ser304Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002579528]|not provided [RCV002021954] |
Chr2:209793832 [GRCh38]
Chr2:210658556 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4807A>C (p.Thr1603Pro) |
single nucleotide variant |
not provided [RCV001948201] |
Chr2:209912584 [GRCh38]
Chr2:210777308 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1357C>T (p.Arg453Ter) |
single nucleotide variant |
not provided [RCV002007403] |
Chr2:209816930 [GRCh38]
Chr2:210681654 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.1351G>T (p.Glu451Ter) |
single nucleotide variant |
not provided [RCV002007412] |
Chr2:209816924 [GRCh38]
Chr2:210681648 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.7147A>G (p.Ile2383Val) |
single nucleotide variant |
not provided [RCV002043828] |
Chr2:209945147 [GRCh38]
Chr2:210809871 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6141G>T (p.Gln2047His) |
single nucleotide variant |
not provided [RCV002023953] |
Chr2:209933968 [GRCh38]
Chr2:210798692 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6565C>T (p.Leu2189Phe) |
single nucleotide variant |
not provided [RCV002007096] |
Chr2:209939571 [GRCh38]
Chr2:210804295 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9586A>G (p.Thr3196Ala) |
single nucleotide variant |
not provided [RCV002042705] |
Chr2:209994142 [GRCh38]
Chr2:210858866 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1135C>T (p.Pro379Ser) |
single nucleotide variant |
not provided [RCV002022195] |
Chr2:209813776 [GRCh38]
Chr2:210678500 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9167T>C (p.Leu3056Pro) |
single nucleotide variant |
not provided [RCV001889625] |
Chr2:209982227 [GRCh38]
Chr2:210846951 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7042G>C (p.Glu2348Gln) |
single nucleotide variant |
not provided [RCV001927826] |
Chr2:209943506 [GRCh38]
Chr2:210808230 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2404T>C (p.Cys802Arg) |
single nucleotide variant |
not provided [RCV002005100] |
Chr2:209825979 [GRCh38]
Chr2:210690703 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7216A>C (p.Thr2406Pro) |
single nucleotide variant |
not provided [RCV001912553] |
Chr2:209945873 [GRCh38]
Chr2:210810597 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8324G>A (p.Gly2775Glu) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003333184]|Inborn genetic diseases [RCV002550406]|not provided [RCV001964511] |
Chr2:209972268 [GRCh38]
Chr2:210836992 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5840G>A (p.Cys1947Tyr) |
single nucleotide variant |
not provided [RCV002022775] |
Chr2:209929904 [GRCh38]
Chr2:210794628 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6298C>T (p.Pro2100Ser) |
single nucleotide variant |
not provided [RCV001913331] |
Chr2:209936868 [GRCh38]
Chr2:210801592 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6445C>T (p.Gln2149Ter) |
single nucleotide variant |
not provided [RCV001872617] |
Chr2:209937610 [GRCh38]
Chr2:210802334 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.7525A>G (p.Thr2509Ala) |
single nucleotide variant |
not provided [RCV001946039] |
Chr2:209957711 [GRCh38]
Chr2:210822435 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3031A>T (p.Thr1011Ser) |
single nucleotide variant |
not provided [RCV002002863] |
Chr2:209835000 [GRCh38]
Chr2:210699724 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2084A>G (p.Asn695Ser) |
single nucleotide variant |
not provided [RCV002040428] |
Chr2:209820432 [GRCh38]
Chr2:210685156 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5719G>A (p.Ala1907Thr) |
single nucleotide variant |
not provided [RCV002042201] |
Chr2:209926899 [GRCh38]
Chr2:210791623 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6217G>A (p.Asp2073Asn) |
single nucleotide variant |
not provided [RCV001891558] |
Chr2:209935752 [GRCh38]
Chr2:210800476 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2023G>A (p.Val675Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003264322]|not provided [RCV001985038] |
Chr2:209820371 [GRCh38]
Chr2:210685095 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3850G>A (p.Val1284Ile) |
single nucleotide variant |
not provided [RCV001985383] |
Chr2:209877963 [GRCh38]
Chr2:210742687 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9286G>A (p.Gly3096Ser) |
single nucleotide variant |
not provided [RCV002003021] |
Chr2:209984884 [GRCh38]
Chr2:210849608 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1079G>C (p.Arg360Pro) |
single nucleotide variant |
not provided [RCV002039771] |
Chr2:209813720 [GRCh38]
Chr2:210678444 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5476C>T (p.Gln1826Ter) |
single nucleotide variant |
not provided [RCV001941746] |
Chr2:209921632 [GRCh38]
Chr2:210786356 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.3694C>T (p.Arg1232Cys) |
single nucleotide variant |
not provided [RCV001963669] |
Chr2:209872824 [GRCh38]
Chr2:210737548 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9460C>G (p.Arg3154Gly) |
single nucleotide variant |
not provided [RCV001962600] |
Chr2:209993378 [GRCh38]
Chr2:210858102 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5622C>T (p.Arg1874=) |
single nucleotide variant |
not provided [RCV001978029] |
Chr2:209922343 [GRCh38]
Chr2:210787067 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.7586+5A>C |
single nucleotide variant |
Inborn genetic diseases [RCV002657727]|not provided [RCV002020322] |
Chr2:209959159 [GRCh38]
Chr2:210823883 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.827A>G (p.Gln276Arg) |
single nucleotide variant |
not provided [RCV001963708] |
Chr2:209793748 [GRCh38]
Chr2:210658472 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3452T>G (p.Leu1151Arg) |
single nucleotide variant |
not provided [RCV002000654] |
Chr2:209842444 [GRCh38]
Chr2:210707168 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5861C>T (p.Thr1954Met) |
single nucleotide variant |
not provided [RCV001941228] |
Chr2:209929925 [GRCh38]
Chr2:210794649 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.854C>T (p.Thr285Ile) |
single nucleotide variant |
not provided [RCV001963333] |
Chr2:209793775 [GRCh38]
Chr2:210658499 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8067G>C (p.Gln2689His) |
single nucleotide variant |
not provided [RCV001944462] |
Chr2:209969828 [GRCh38]
Chr2:210834552 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2237G>A (p.Gly746Glu) |
single nucleotide variant |
not provided [RCV001867270] |
Chr2:209820585 [GRCh38]
Chr2:210685309 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7655G>A (p.Arg2552Gln) |
single nucleotide variant |
not provided [RCV001933862] |
Chr2:209959557 [GRCh38]
Chr2:210824281 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6772G>A (p.Val2258Ile) |
single nucleotide variant |
not provided [RCV001936710] |
Chr2:209941346 [GRCh38]
Chr2:210806070 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9802G>C (p.Asp3268His) |
single nucleotide variant |
Inborn genetic diseases [RCV002563518]|UNC80-related condition [RCV003893006]|not provided [RCV001997058] |
Chr2:209995422 [GRCh38]
Chr2:210860146 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9148A>G (p.Ser3050Gly) |
single nucleotide variant |
not provided [RCV001923931] |
Chr2:209982208 [GRCh38]
Chr2:210846932 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1261G>C (p.Val421Leu) |
single nucleotide variant |
not provided [RCV001962472] |
Chr2:209815317 [GRCh38]
Chr2:210680041 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4544C>T (p.Ala1515Val) |
single nucleotide variant |
Neurodevelopmental delay [RCV002274229]|not provided [RCV001887729] |
Chr2:209896376 [GRCh38]
Chr2:210761100 [GRCh37]
Chr2:2q34 |
likely pathogenic|uncertain significance |
| NM_001371986.1(UNC80):c.44G>A (p.Gly15Asp) |
single nucleotide variant |
not provided [RCV001944637] |
Chr2:209772116 [GRCh38]
Chr2:210636840 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8387C>T (p.Pro2796Leu) |
single nucleotide variant |
not provided [RCV001980699] |
Chr2:209973070 [GRCh38]
Chr2:210837794 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9944C>T (p.Thr3315Met) |
single nucleotide variant |
not provided [RCV001939192] |
Chr2:209995564 [GRCh38]
Chr2:210860288 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6950G>A (p.Arg2317His) |
single nucleotide variant |
Inborn genetic diseases [RCV002554334]|not provided [RCV001917926] |
Chr2:209943414 [GRCh38]
Chr2:210808138 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9432G>C (p.Gln3144His) |
single nucleotide variant |
not provided [RCV001867350] |
Chr2:209993350 [GRCh38]
Chr2:210858074 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3782A>G (p.Asn1261Ser) |
single nucleotide variant |
not provided [RCV001991204] |
Chr2:209872912 [GRCh38]
Chr2:210737636 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1645G>A (p.Asp549Asn) |
single nucleotide variant |
not provided [RCV002000877] |
Chr2:209817904 [GRCh38]
Chr2:210682628 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4658A>G (p.His1553Arg) |
single nucleotide variant |
not provided [RCV002038188] |
Chr2:209904841 [GRCh38]
Chr2:210769565 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6838G>A (p.Val2280Ile) |
single nucleotide variant |
not provided [RCV001888580] |
Chr2:209941412 [GRCh38]
Chr2:210806136 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NC_000002.11:g.(?_210636797)_(210658603_?)dup |
duplication |
not provided [RCV001943226] |
Chr2:210636797..210658603 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.217T>A (p.Ser73Thr) |
single nucleotide variant |
not provided [RCV001888589] |
Chr2:209775964 [GRCh38]
Chr2:210640688 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1210A>G (p.Met404Val) |
single nucleotide variant |
not provided [RCV001999608] |
Chr2:209815266 [GRCh38]
Chr2:210679990 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2339G>A (p.Ser780Asn) |
single nucleotide variant |
not provided [RCV002011865] |
Chr2:209825914 [GRCh38]
Chr2:210690638 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4547A>G (p.Glu1516Gly) |
single nucleotide variant |
not provided [RCV002031114] |
Chr2:209896379 [GRCh38]
Chr2:210761103 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7763G>A (p.Arg2588Gln) |
single nucleotide variant |
not provided [RCV001998947] |
Chr2:209959665 [GRCh38]
Chr2:210824389 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6852G>A (p.Ala2284=) |
single nucleotide variant |
not provided [RCV001885877] |
Chr2:209941426 [GRCh38]
Chr2:210806150 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.190G>A (p.Ala64Thr) |
single nucleotide variant |
not provided [RCV001961741] |
Chr2:209775937 [GRCh38]
Chr2:210640661 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.448C>A (p.His150Asn) |
single nucleotide variant |
not provided [RCV001954661] |
Chr2:209777407 [GRCh38]
Chr2:210642131 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5648C>T (p.Ala1883Val) |
single nucleotide variant |
not provided [RCV001902234] |
Chr2:209922369 [GRCh38]
Chr2:210787093 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4771A>G (p.Lys1591Glu) |
single nucleotide variant |
not provided [RCV002038152] |
Chr2:209904954 [GRCh38]
Chr2:210769678 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4793A>G (p.Lys1598Arg) |
single nucleotide variant |
not provided [RCV002038560] |
Chr2:209912570 [GRCh38]
Chr2:210777294 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6956C>T (p.Ala2319Val) |
single nucleotide variant |
not provided [RCV001944291] |
Chr2:209943420 [GRCh38]
Chr2:210808144 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1020_1021delinsTT (p.Gln340_Pro341delinsHisSer) |
indel |
not provided [RCV001944377] |
Chr2:209813661..209813662 [GRCh38]
Chr2:210678385..210678386 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4890+3A>G |
single nucleotide variant |
not provided [RCV001961981] |
Chr2:209912670 [GRCh38]
Chr2:210777394 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4765G>T (p.Gly1589Cys) |
single nucleotide variant |
not provided [RCV001888644] |
Chr2:209904948 [GRCh38]
Chr2:210769672 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2701G>A (p.Val901Ile) |
single nucleotide variant |
not provided [RCV001960240] |
Chr2:209831517 [GRCh38]
Chr2:210696241 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2973C>T (p.Gly991=) |
single nucleotide variant |
not provided [RCV001887819] |
Chr2:209834942 [GRCh38]
Chr2:210699666 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6583C>T (p.Arg2195Cys) |
single nucleotide variant |
not provided [RCV001996512] |
Chr2:209939589 [GRCh38]
Chr2:210804313 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1962+3A>G |
single nucleotide variant |
not provided [RCV001941190] |
Chr2:209819264 [GRCh38]
Chr2:210683988 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5379T>A (p.His1793Gln) |
single nucleotide variant |
not provided [RCV001961900] |
Chr2:209921535 [GRCh38]
Chr2:210786259 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6601C>T (p.Arg2201Cys) |
single nucleotide variant |
not provided [RCV001875170] |
Chr2:209939607 [GRCh38]
Chr2:210804331 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6491T>C (p.Val2164Ala) |
single nucleotide variant |
not provided [RCV002009578] |
Chr2:209939497 [GRCh38]
Chr2:210804221 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4649_4651del (p.Cys1550del) |
deletion |
not provided [RCV002038271] |
Chr2:209904830..209904832 [GRCh38]
Chr2:210769554..210769556 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6670G>A (p.Asp2224Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002548956]|not provided [RCV002038664] |
Chr2:209941244 [GRCh38]
Chr2:210805968 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9536T>C (p.Ile3179Thr) |
single nucleotide variant |
not provided [RCV001904742] |
Chr2:209994092 [GRCh38]
Chr2:210858816 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.950T>C (p.Val317Ala) |
single nucleotide variant |
not provided [RCV001996593] |
Chr2:209813591 [GRCh38]
Chr2:210678315 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1465C>T (p.Arg489Cys) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002490216]|not provided [RCV001925315] |
Chr2:209817038 [GRCh38]
Chr2:210681762 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9032C>T (p.Thr3011Met) |
single nucleotide variant |
not provided [RCV002000997] |
Chr2:209978622 [GRCh38]
Chr2:210843346 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5054T>C (p.Val1685Ala) |
single nucleotide variant |
not provided [RCV001942897] |
Chr2:209917801 [GRCh38]
Chr2:210782525 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3001C>T (p.Arg1001Cys) |
single nucleotide variant |
not provided [RCV001940004] |
Chr2:209834970 [GRCh38]
Chr2:210699694 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3227G>A (p.Arg1076Gln) |
single nucleotide variant |
not provided [RCV001989119] |
Chr2:209839407 [GRCh38]
Chr2:210704131 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5024C>A (p.Ala1675Glu) |
single nucleotide variant |
not provided [RCV002012327] |
Chr2:209913935 [GRCh38]
Chr2:210778659 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2951C>T (p.Ala984Val) |
single nucleotide variant |
not provided [RCV001878204] |
Chr2:209834920 [GRCh38]
Chr2:210699644 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9403C>T (p.Arg3135Cys) |
single nucleotide variant |
not provided [RCV001919924] |
Chr2:209993321 [GRCh38]
Chr2:210858045 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4004G>A (p.Cys1335Tyr) |
single nucleotide variant |
not provided [RCV002039206] |
Chr2:209880988 [GRCh38]
Chr2:210745712 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3190C>T (p.Arg1064Ter) |
single nucleotide variant |
not provided [RCV001878299] |
Chr2:209839370 [GRCh38]
Chr2:210704094 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.8727C>T (p.Thr2909=) |
single nucleotide variant |
not provided [RCV001921528] |
Chr2:209976258 [GRCh38]
Chr2:210840982 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5591G>A (p.Ser1864Asn) |
single nucleotide variant |
not provided [RCV001904536] |
Chr2:209922312 [GRCh38]
Chr2:210787036 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7586+5A>G |
single nucleotide variant |
not provided [RCV001887027] |
Chr2:209959159 [GRCh38]
Chr2:210823883 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6381T>G (p.Ile2127Met) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002484926]|not provided [RCV002000653] |
Chr2:209937546 [GRCh38]
Chr2:210802270 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3695G>A (p.Arg1232His) |
single nucleotide variant |
not provided [RCV001923763] |
Chr2:209872825 [GRCh38]
Chr2:210737549 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2277_2288del (p.Gly763_Gly766del) |
deletion |
not provided [RCV001866800] |
Chr2:209820616..209820627 [GRCh38]
Chr2:210685340..210685351 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8822A>T (p.His2941Leu) |
single nucleotide variant |
not provided [RCV001934587] |
Chr2:209976962 [GRCh38]
Chr2:210841686 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5185G>C (p.Glu1729Gln) |
single nucleotide variant |
not provided [RCV001979516] |
Chr2:209917932 [GRCh38]
Chr2:210782656 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9587C>G (p.Thr3196Arg) |
single nucleotide variant |
not provided [RCV002038771] |
Chr2:209994143 [GRCh38]
Chr2:210858867 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5650G>A (p.Val1884Ile) |
single nucleotide variant |
not provided [RCV001885833] |
Chr2:209922371 [GRCh38]
Chr2:210787095 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.510A>C (p.Glu170Asp) |
single nucleotide variant |
not provided [RCV001938018] |
Chr2:209777469 [GRCh38]
Chr2:210642193 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2586G>T (p.Leu862Phe) |
single nucleotide variant |
not provided [RCV001887569] |
Chr2:209829339 [GRCh38]
Chr2:210694063 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1795C>T (p.Leu599Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003264273]|not provided [RCV001943732] |
Chr2:209819094 [GRCh38]
Chr2:210683818 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3509A>T (p.Lys1170Ile) |
single nucleotide variant |
not provided [RCV002019624] |
Chr2:209849505 [GRCh38]
Chr2:210714229 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9523T>C (p.Ser3175Pro) |
single nucleotide variant |
not provided [RCV001954110] |
Chr2:209994079 [GRCh38]
Chr2:210858803 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7862T>G (p.Met2621Arg) |
single nucleotide variant |
not provided [RCV001923600] |
Chr2:209967493 [GRCh38]
Chr2:210832217 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9510G>A (p.Ala3170=) |
single nucleotide variant |
not provided [RCV001938152] |
Chr2:209994066 [GRCh38]
Chr2:210858790 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5996T>C (p.Val1999Ala) |
single nucleotide variant |
not provided [RCV002001108] |
Chr2:209933823 [GRCh38]
Chr2:210798547 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2615C>T (p.Pro872Leu) |
single nucleotide variant |
UNC80-related condition [RCV003892188]|not provided [RCV002029308] |
Chr2:209829368 [GRCh38]
Chr2:210694092 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4581T>C (p.His1527=) |
single nucleotide variant |
not provided [RCV001933566] |
Chr2:209896413 [GRCh38]
Chr2:210761137 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7723C>T (p.Pro2575Ser) |
single nucleotide variant |
not provided [RCV001992070] |
Chr2:209959625 [GRCh38]
Chr2:210824349 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8249A>C (p.Gln2750Pro) |
single nucleotide variant |
not provided [RCV001953002] |
Chr2:209970950 [GRCh38]
Chr2:210835674 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3904G>C (p.Gly1302Arg) |
single nucleotide variant |
not provided [RCV001936326] |
Chr2:209878017 [GRCh38]
Chr2:210742741 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4063C>T (p.Arg1355Ter) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003317562]|not provided [RCV001972678] |
Chr2:209881047 [GRCh38]
Chr2:210745771 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.9017G>A (p.Arg3006His) |
single nucleotide variant |
not provided [RCV001989639] |
Chr2:209978607 [GRCh38]
Chr2:210843331 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NC_000002.11:g.(?_210777264)_(210777411_?)del |
deletion |
not provided [RCV001955790] |
Chr2:210777264..210777411 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1321A>T (p.Asn441Tyr) |
single nucleotide variant |
not provided [RCV001956995] |
Chr2:209815377 [GRCh38]
Chr2:210680101 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9680C>T (p.Ala3227Val) |
single nucleotide variant |
not provided [RCV001917842] |
Chr2:209994236 [GRCh38]
Chr2:210858960 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4227C>A (p.His1409Gln) |
single nucleotide variant |
not provided [RCV002011704] |
Chr2:209888211 [GRCh38]
Chr2:210752935 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5372G>A (p.Arg1791His) |
single nucleotide variant |
not provided [RCV001954331] |
Chr2:209921528 [GRCh38]
Chr2:210786252 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9055A>C (p.Ser3019Arg) |
single nucleotide variant |
not provided [RCV001935090] |
Chr2:209978645 [GRCh38]
Chr2:210843369 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3041+2dup |
duplication |
not provided [RCV001882278] |
Chr2:209835011..209835012 [GRCh38]
Chr2:210699735..210699736 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7298T>C (p.Leu2433Pro) |
single nucleotide variant |
not provided [RCV002029489] |
Chr2:209954111 [GRCh38]
Chr2:210818835 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8876C>T (p.Ser2959Leu) |
single nucleotide variant |
not provided [RCV002030714] |
Chr2:209977016 [GRCh38]
Chr2:210841740 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6614A>T (p.Asp2205Val) |
single nucleotide variant |
not provided [RCV001898057] |
Chr2:209939620 [GRCh38]
Chr2:210804344 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6973C>T (p.His2325Tyr) |
single nucleotide variant |
not provided [RCV001902060] |
Chr2:209943437 [GRCh38]
Chr2:210808161 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1216T>G (p.Cys406Gly) |
single nucleotide variant |
not provided [RCV001993888] |
Chr2:209815272 [GRCh38]
Chr2:210679996 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4075T>C (p.Ser1359Pro) |
single nucleotide variant |
not provided [RCV002051008] |
Chr2:209881059 [GRCh38]
Chr2:210745783 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.9509C>T (p.Ala3170Val) |
single nucleotide variant |
not provided [RCV001882355] |
Chr2:209994065 [GRCh38]
Chr2:210858789 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8615A>G (p.Glu2872Gly) |
single nucleotide variant |
not provided [RCV001976720] |
Chr2:209976146 [GRCh38]
Chr2:210840870 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9502C>G (p.Pro3168Ala) |
single nucleotide variant |
not provided [RCV001902130] |
Chr2:209993420 [GRCh38]
Chr2:210858144 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4124G>T (p.Cys1375Phe) |
single nucleotide variant |
not provided [RCV001996202] |
Chr2:209888108 [GRCh38]
Chr2:210752832 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5185G>A (p.Glu1729Lys) |
single nucleotide variant |
not provided [RCV001866351] |
Chr2:209917932 [GRCh38]
Chr2:210782656 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2710A>G (p.Met904Val) |
single nucleotide variant |
not provided [RCV001935234] |
Chr2:209831526 [GRCh38]
Chr2:210696250 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1859G>A (p.Arg620Gln) |
single nucleotide variant |
not provided [RCV001864727] |
Chr2:209819158 [GRCh38]
Chr2:210683882 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4627G>A (p.Val1543Ile) |
single nucleotide variant |
not provided [RCV001932828] |
Chr2:209904810 [GRCh38]
Chr2:210769534 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3994A>G (p.Lys1332Glu) |
single nucleotide variant |
not provided [RCV001935921] |
Chr2:209880978 [GRCh38]
Chr2:210745702 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4495A>C (p.Ser1499Arg) |
single nucleotide variant |
not provided [RCV001903899] |
Chr2:209896327 [GRCh38]
Chr2:210761051 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7883G>A (p.Arg2628His) |
single nucleotide variant |
not provided [RCV001930175] |
Chr2:209967514 [GRCh38]
Chr2:210832238 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1568G>A (p.Arg523Gln) |
single nucleotide variant |
not provided [RCV002027368] |
Chr2:209817827 [GRCh38]
Chr2:210682551 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5995-3T>C |
single nucleotide variant |
not provided [RCV002028680] |
Chr2:209933819 [GRCh38]
Chr2:210798543 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9739_9741del (p.Lys3247del) |
deletion |
not provided [RCV001921974] |
Chr2:209995359..209995361 [GRCh38]
Chr2:210860083..210860085 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3977-4_3977-3delinsAC |
indel |
not provided [RCV001995197] |
Chr2:209880957..209880958 [GRCh38]
Chr2:210745681..210745682 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1817C>T (p.Pro606Leu) |
single nucleotide variant |
not provided [RCV001957814] |
Chr2:209819116 [GRCh38]
Chr2:210683840 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1346G>T (p.Arg449Leu) |
single nucleotide variant |
not provided [RCV001954723] |
Chr2:209816919 [GRCh38]
Chr2:210681643 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4762C>T (p.Arg1588Trp) |
single nucleotide variant |
not provided [RCV001954747] |
Chr2:209904945 [GRCh38]
Chr2:210769669 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7228A>G (p.Ser2410Gly) |
single nucleotide variant |
not provided [RCV002047449] |
Chr2:209945885 [GRCh38]
Chr2:210810609 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1463C>T (p.Thr488Met) |
single nucleotide variant |
not provided [RCV002049981] |
Chr2:209817036 [GRCh38]
Chr2:210681760 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8716A>C (p.Ile2906Leu) |
single nucleotide variant |
not provided [RCV001930441] |
Chr2:209976247 [GRCh38]
Chr2:210840971 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3778G>A (p.Gly1260Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002560450]|not provided [RCV001921473] |
Chr2:209872908 [GRCh38]
Chr2:210737632 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7768A>G (p.Ile2590Val) |
single nucleotide variant |
not provided [RCV002013658] |
Chr2:209959670 [GRCh38]
Chr2:210824394 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4012G>T (p.Ala1338Ser) |
single nucleotide variant |
not provided [RCV001993058] |
Chr2:209880996 [GRCh38]
Chr2:210745720 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5312G>A (p.Ser1771Asn) |
single nucleotide variant |
not provided [RCV001995915] |
Chr2:209918632 [GRCh38]
Chr2:210783356 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2267A>T (p.Asp756Val) |
single nucleotide variant |
not provided [RCV001957972] |
Chr2:209820615 [GRCh38]
Chr2:210685339 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9013T>A (p.Ser3005Thr) |
single nucleotide variant |
not provided [RCV002033162] |
Chr2:209978603 [GRCh38]
Chr2:210843327 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4187_4188delinsAT (p.Gly1396Asp) |
indel |
not provided [RCV001865010] |
Chr2:209888171..209888172 [GRCh38]
Chr2:210752895..210752896 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7700C>A (p.Thr2567Asn) |
single nucleotide variant |
not provided [RCV002011087] |
Chr2:209959602 [GRCh38]
Chr2:210824326 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6770A>G (p.Asn2257Ser) |
single nucleotide variant |
not provided [RCV002047504] |
Chr2:209941344 [GRCh38]
Chr2:210806068 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3998G>A (p.Cys1333Tyr) |
single nucleotide variant |
not provided [RCV001866673] |
Chr2:209880982 [GRCh38]
Chr2:210745706 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4066G>A (p.Glu1356Lys) |
single nucleotide variant |
not provided [RCV002026372] |
Chr2:209881050 [GRCh38]
Chr2:210745774 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8564C>A (p.Ser2855Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002554161]|not provided [RCV001881963] |
Chr2:209973247 [GRCh38]
Chr2:210837971 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4094G>A (p.Arg1365His) |
single nucleotide variant |
not provided [RCV001995381] |
Chr2:209881078 [GRCh38]
Chr2:210745802 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5211+6G>C |
single nucleotide variant |
not provided [RCV002049043] |
Chr2:209917964 [GRCh38]
Chr2:210782688 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2608A>G (p.Met870Val) |
single nucleotide variant |
not provided [RCV002050366] |
Chr2:209829361 [GRCh38]
Chr2:210694085 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3193C>T (p.Arg1065Cys) |
single nucleotide variant |
not provided [RCV001880845] |
Chr2:209839373 [GRCh38]
Chr2:210704097 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2277AGGTGGAGG[3] (p.Gly764_Gly766dup) |
microsatellite |
not provided [RCV001935625] |
Chr2:209820619..209820620 [GRCh38]
Chr2:210685343..210685344 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3463A>C (p.Ser1155Arg) |
single nucleotide variant |
not provided [RCV002047705] |
Chr2:209849459 [GRCh38]
Chr2:210714183 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1609G>A (p.Ala537Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003289335]|not provided [RCV001976250] |
Chr2:209817868 [GRCh38]
Chr2:210682592 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7871G>A (p.Arg2624His) |
single nucleotide variant |
not provided [RCV002011432] |
Chr2:209967502 [GRCh38]
Chr2:210832226 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.938+5C>T |
single nucleotide variant |
not provided [RCV002029210] |
Chr2:209793864 [GRCh38]
Chr2:210658588 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5995-2A>G |
single nucleotide variant |
not provided [RCV002015420] |
Chr2:209933820 [GRCh38]
Chr2:210798544 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.7801A>T (p.Met2601Leu) |
single nucleotide variant |
not provided [RCV001978414] |
Chr2:209959703 [GRCh38]
Chr2:210824427 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5617C>T (p.Arg1873Cys) |
single nucleotide variant |
not provided [RCV001955251] |
Chr2:209922338 [GRCh38]
Chr2:210787062 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8287G>A (p.Val2763Met) |
single nucleotide variant |
not provided [RCV002012613] |
Chr2:209972231 [GRCh38]
Chr2:210836955 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1237C>T (p.Leu413Phe) |
single nucleotide variant |
not provided [RCV002026642] |
Chr2:209815293 [GRCh38]
Chr2:210680017 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4782+5_4782+8del |
microsatellite |
not provided [RCV001877314] |
Chr2:209904964..209904967 [GRCh38]
Chr2:210769688..210769691 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5959C>T (p.Pro1987Ser) |
single nucleotide variant |
not provided [RCV002026650] |
Chr2:209931019 [GRCh38]
Chr2:210795743 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2395T>G (p.Ser799Ala) |
single nucleotide variant |
not provided [RCV001916281] |
Chr2:209825970 [GRCh38]
Chr2:210690694 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5995-4C>G |
single nucleotide variant |
not provided [RCV002030506] |
Chr2:209933818 [GRCh38]
Chr2:210798542 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.1871A>T (p.Asp624Val) |
single nucleotide variant |
not provided [RCV001916308] |
Chr2:209819170 [GRCh38]
Chr2:210683894 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1514G>A (p.Arg505Gln) |
single nucleotide variant |
not provided [RCV001878654] |
Chr2:209817087 [GRCh38]
Chr2:210681811 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6505T>C (p.Phe2169Leu) |
single nucleotide variant |
not provided [RCV001979350] |
Chr2:209939511 [GRCh38]
Chr2:210804235 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4666C>T (p.Arg1556Cys) |
single nucleotide variant |
not provided [RCV001937790] |
Chr2:209904849 [GRCh38]
Chr2:210769573 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1437C>G (p.His479Gln) |
single nucleotide variant |
not provided [RCV001979943] |
Chr2:209817010 [GRCh38]
Chr2:210681734 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1438G>A (p.Glu480Lys) |
single nucleotide variant |
not provided [RCV001998125] |
Chr2:209817011 [GRCh38]
Chr2:210681735 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.26G>C (p.Gly9Ala) |
single nucleotide variant |
not provided [RCV001907447] |
Chr2:209772098 [GRCh38]
Chr2:210636822 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7287-9C>T |
single nucleotide variant |
not provided [RCV002028083] |
Chr2:209954091 [GRCh38]
Chr2:210818815 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.5504C>T (p.Thr1835Met) |
single nucleotide variant |
not provided [RCV001932336] |
Chr2:209921660 [GRCh38]
Chr2:210786384 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9008C>G (p.Thr3003Ser) |
single nucleotide variant |
not provided [RCV001932322] |
Chr2:209978598 [GRCh38]
Chr2:210843322 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.286C>T (p.Arg96Ter) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002272515]|not provided [RCV001900410] |
Chr2:209776033 [GRCh38]
Chr2:210640757 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.6379A>C (p.Ile2127Leu) |
single nucleotide variant |
not provided [RCV002034904] |
Chr2:209937544 [GRCh38]
Chr2:210802268 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9272T>G (p.Leu3091Arg) |
single nucleotide variant |
not provided [RCV002019965] |
Chr2:209984870 [GRCh38]
Chr2:210849594 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2899G>T (p.Val967Leu) |
single nucleotide variant |
not provided [RCV001999399] |
Chr2:209834125 [GRCh38]
Chr2:210698849 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.783T>A (p.Asp261Glu) |
single nucleotide variant |
not provided [RCV001935030] |
Chr2:209789590 [GRCh38]
Chr2:210654314 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5173T>C (p.Trp1725Arg) |
single nucleotide variant |
not provided [RCV002048037] |
Chr2:209917920 [GRCh38]
Chr2:210782644 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2707G>A (p.Ala903Thr) |
single nucleotide variant |
not provided [RCV001867226] |
Chr2:209831523 [GRCh38]
Chr2:210696247 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7181A>G (p.Lys2394Arg) |
single nucleotide variant |
not provided [RCV001870533] |
Chr2:209945181 [GRCh38]
Chr2:210809905 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9350_9356del (p.Asn3117fs) |
deletion |
not provided [RCV001994671] |
Chr2:209992201..209992207 [GRCh38]
Chr2:210856925..210856931 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.723A>G (p.Thr241=) |
single nucleotide variant |
not provided [RCV002015268] |
Chr2:209786188 [GRCh38]
Chr2:210650912 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6721G>A (p.Gly2241Ser) |
single nucleotide variant |
not provided [RCV001904617] |
Chr2:209941295 [GRCh38]
Chr2:210806019 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6949C>T (p.Arg2317Cys) |
single nucleotide variant |
not provided [RCV001940877] |
Chr2:209943413 [GRCh38]
Chr2:210808137 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.840C>G (p.Ile280Met) |
single nucleotide variant |
not provided [RCV001975326] |
Chr2:209793761 [GRCh38]
Chr2:210658485 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4846G>T (p.Glu1616Ter) |
single nucleotide variant |
not provided [RCV001972815] |
Chr2:209912623 [GRCh38]
Chr2:210777347 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.37G>A (p.Asp13Asn) |
single nucleotide variant |
not provided [RCV001867284] |
Chr2:209772109 [GRCh38]
Chr2:210636833 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2462A>G (p.Gln821Arg) |
single nucleotide variant |
not provided [RCV001953093] |
Chr2:209826037 [GRCh38]
Chr2:210690761 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8587+6T>C |
single nucleotide variant |
not provided [RCV001933791] |
Chr2:209973276 [GRCh38]
Chr2:210838000 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4571C>T (p.Ser1524Leu) |
single nucleotide variant |
not provided [RCV001902802] |
Chr2:209896403 [GRCh38]
Chr2:210761127 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3199C>T (p.Arg1067Cys) |
single nucleotide variant |
not provided [RCV001982369] |
Chr2:209839379 [GRCh38]
Chr2:210704103 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2331G>A (p.Lys777=) |
single nucleotide variant |
not provided [RCV002010525] |
Chr2:209820679 [GRCh38]
Chr2:210685403 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9866A>G (p.His3289Arg) |
single nucleotide variant |
not provided [RCV001903897] |
Chr2:209995486 [GRCh38]
Chr2:210860210 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9073G>C (p.Ala3025Pro) |
single nucleotide variant |
not provided [RCV001904661] |
Chr2:209978663 [GRCh38]
Chr2:210843387 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6555C>G (p.His2185Gln) |
single nucleotide variant |
not provided [RCV002017700] |
Chr2:209939561 [GRCh38]
Chr2:210804285 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.299-13T>G |
single nucleotide variant |
not provided [RCV001933881] |
Chr2:209777245 [GRCh38]
Chr2:210641969 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3010A>C (p.Met1004Leu) |
single nucleotide variant |
not provided [RCV002014489] |
Chr2:209834979 [GRCh38]
Chr2:210699703 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3956A>G (p.Glu1319Gly) |
single nucleotide variant |
not provided [RCV001955961] |
Chr2:209878069 [GRCh38]
Chr2:210742793 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.706A>C (p.Ile236Leu) |
single nucleotide variant |
not provided [RCV001922599] |
Chr2:209786171 [GRCh38]
Chr2:210650895 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5309G>A (p.Gly1770Glu) |
single nucleotide variant |
not provided [RCV001905277] |
Chr2:209918629 [GRCh38]
Chr2:210783353 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7882C>T (p.Arg2628Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002552768]|not provided [RCV001885831] |
Chr2:209967513 [GRCh38]
Chr2:210832237 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7661A>G (p.Glu2554Gly) |
single nucleotide variant |
not provided [RCV002027220] |
Chr2:209959563 [GRCh38]
Chr2:210824287 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7777G>A (p.Glu2593Lys) |
single nucleotide variant |
not provided [RCV001879082] |
Chr2:209959679 [GRCh38]
Chr2:210824403 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6313A>G (p.Thr2105Ala) |
single nucleotide variant |
not provided [RCV002013289] |
Chr2:209936883 [GRCh38]
Chr2:210801607 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4807A>G (p.Thr1603Ala) |
single nucleotide variant |
not provided [RCV001902099] |
Chr2:209912584 [GRCh38]
Chr2:210777308 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2479G>A (p.Ala827Thr) |
single nucleotide variant |
not provided [RCV001956906] |
Chr2:209829232 [GRCh38]
Chr2:210693956 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3376G>A (p.Val1126Met) |
single nucleotide variant |
not provided [RCV002015490] |
Chr2:209842368 [GRCh38]
Chr2:210707092 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1756G>A (p.Val586Ile) |
single nucleotide variant |
not provided [RCV002014664] |
Chr2:209819055 [GRCh38]
Chr2:210683779 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3536G>A (p.Arg1179Gln) |
single nucleotide variant |
not provided [RCV002036285] |
Chr2:209849532 [GRCh38]
Chr2:210714256 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5593A>G (p.Thr1865Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003382805]|not provided [RCV002013479] |
Chr2:209922314 [GRCh38]
Chr2:210787038 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3685C>T (p.Arg1229Cys) |
single nucleotide variant |
not provided [RCV002015580] |
Chr2:209872815 [GRCh38]
Chr2:210737539 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3916G>A (p.Asp1306Asn) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003136358]|not provided [RCV001996634] |
Chr2:209878029 [GRCh38]
Chr2:210742753 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7906A>G (p.Ile2636Val) |
single nucleotide variant |
not provided [RCV002026114] |
Chr2:209967537 [GRCh38]
Chr2:210832261 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1796T>C (p.Leu599Pro) |
single nucleotide variant |
not provided [RCV002010935] |
Chr2:209819095 [GRCh38]
Chr2:210683819 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1936C>T (p.His646Tyr) |
single nucleotide variant |
not provided [RCV002032128]|not specified [RCV002246662] |
Chr2:209819235 [GRCh38]
Chr2:210683959 [GRCh37]
Chr2:2q34 |
benign|uncertain significance |
| NM_001371986.1(UNC80):c.5162G>A (p.Arg1721His) |
single nucleotide variant |
not provided [RCV002032145] |
Chr2:209917909 [GRCh38]
Chr2:210782633 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2933G>A (p.Gly978Asp) |
single nucleotide variant |
not provided [RCV002019108] |
Chr2:209834159 [GRCh38]
Chr2:210698883 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3357+12A>G |
single nucleotide variant |
not provided [RCV001864913] |
Chr2:209840660 [GRCh38]
Chr2:210705384 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2909A>G (p.Asn970Ser) |
single nucleotide variant |
not provided [RCV001898496] |
Chr2:209834135 [GRCh38]
Chr2:210698859 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7550+6T>G |
single nucleotide variant |
not provided [RCV001866604] |
Chr2:209957742 [GRCh38]
Chr2:210822466 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1816C>T (p.Pro606Ser) |
single nucleotide variant |
not provided [RCV001989111] |
Chr2:209819115 [GRCh38]
Chr2:210683839 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.938G>A (p.Arg313Lys) |
single nucleotide variant |
not provided [RCV001878142] |
Chr2:209793859 [GRCh38]
Chr2:210658583 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NC_000002.11:g.(?_203420070)_(211811277_?)del |
deletion |
Primary pulmonary hypertension [RCV002016799] |
Chr2:203420070..211811277 [GRCh37]
Chr2:2q33.2-34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1171C>T (p.Pro391Ser) |
single nucleotide variant |
not provided [RCV001866758] |
Chr2:209813812 [GRCh38]
Chr2:210678536 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7921G>A (p.Ala2641Thr) |
single nucleotide variant |
not provided [RCV001878273] |
Chr2:209967552 [GRCh38]
Chr2:210832276 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8719G>A (p.Val2907Met) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002490087]|not provided [RCV001879648] |
Chr2:209976250 [GRCh38]
Chr2:210840974 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5147C>T (p.Thr1716Met) |
single nucleotide variant |
not provided [RCV002048972] |
Chr2:209917894 [GRCh38]
Chr2:210782618 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4885C>T (p.Leu1629Phe) |
single nucleotide variant |
not provided [RCV001881076] |
Chr2:209912662 [GRCh38]
Chr2:210777386 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.865T>C (p.Cys289Arg) |
single nucleotide variant |
not provided [RCV001995329] |
Chr2:209793786 [GRCh38]
Chr2:210658510 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2918A>T (p.Glu973Val) |
single nucleotide variant |
not provided [RCV002033492] |
Chr2:209834144 [GRCh38]
Chr2:210698868 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9284A>G (p.Gln3095Arg) |
single nucleotide variant |
not provided [RCV001904456] |
Chr2:209984882 [GRCh38]
Chr2:210849606 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9038C>T (p.Thr3013Ile) |
single nucleotide variant |
not provided [RCV001905643] |
Chr2:209978628 [GRCh38]
Chr2:210843352 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5788C>T (p.Arg1930Trp) |
single nucleotide variant |
not provided [RCV001886152] |
Chr2:209926968 [GRCh38]
Chr2:210791692 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.297A>G (p.Leu99=) |
single nucleotide variant |
not provided [RCV001905042] |
Chr2:209776044 [GRCh38]
Chr2:210640768 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4613T>C (p.Phe1538Ser) |
single nucleotide variant |
not provided [RCV001979890] |
Chr2:209904796 [GRCh38]
Chr2:210769520 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2572G>A (p.Val858Ile) |
single nucleotide variant |
not provided [RCV001997513] |
Chr2:209829325 [GRCh38]
Chr2:210694049 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7130C>A (p.Thr2377Asn) |
single nucleotide variant |
not provided [RCV002018716] |
Chr2:209945130 [GRCh38]
Chr2:210809854 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7135G>A (p.Asp2379Asn) |
single nucleotide variant |
not provided [RCV002049181] |
Chr2:209945135 [GRCh38]
Chr2:210809859 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9074C>T (p.Ala3025Val) |
single nucleotide variant |
not provided [RCV001902641] |
Chr2:209978664 [GRCh38]
Chr2:210843388 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3089G>A (p.Arg1030His) |
single nucleotide variant |
Inborn genetic diseases [RCV002553620]|not provided [RCV001882086] |
Chr2:209839269 [GRCh38]
Chr2:210703993 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.256C>T (p.Leu86Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002573490]|not provided [RCV001990761] |
Chr2:209776003 [GRCh38]
Chr2:210640727 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8822A>G (p.His2941Arg) |
single nucleotide variant |
not provided [RCV001978419] |
Chr2:209976962 [GRCh38]
Chr2:210841686 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1571G>C (p.Gly524Ala) |
single nucleotide variant |
not provided [RCV001904890] |
Chr2:209817830 [GRCh38]
Chr2:210682554 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9119-1_9119insGAG |
insertion |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002489942]|not provided [RCV002049403] |
Chr2:209982176..209982177 [GRCh38]
Chr2:210846900..210846901 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5996T>A (p.Val1999Glu) |
single nucleotide variant |
not provided [RCV001921012] |
Chr2:209933823 [GRCh38]
Chr2:210798547 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3315T>G (p.Ile1105Met) |
single nucleotide variant |
not provided [RCV001977197] |
Chr2:209840606 [GRCh38]
Chr2:210705330 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4511G>T (p.Ser1504Ile) |
single nucleotide variant |
not provided [RCV002034114] |
Chr2:209896343 [GRCh38]
Chr2:210761067 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5530+3G>T |
single nucleotide variant |
not provided [RCV001897819] |
Chr2:209921689 [GRCh38]
Chr2:210786413 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7921G>T (p.Ala2641Ser) |
single nucleotide variant |
not provided [RCV002048591] |
Chr2:209967552 [GRCh38]
Chr2:210832276 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NC_000002.11:g.(?_210636797)_(211542709_?)dup |
duplication |
not provided [RCV001923323] |
Chr2:210636797..211542709 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3977-5_3977-4delinsAA |
indel |
not provided [RCV001939889] |
Chr2:209880956..209880957 [GRCh38]
Chr2:210745680..210745681 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9667G>A (p.Ala3223Thr) |
single nucleotide variant |
not provided [RCV001999010] |
Chr2:209994223 [GRCh38]
Chr2:210858947 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8816G>A (p.Arg2939Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002642078]|not provided [RCV002010402] |
Chr2:209976956 [GRCh38]
Chr2:210841680 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9643G>A (p.Glu3215Lys) |
single nucleotide variant |
not provided [RCV002017837] |
Chr2:209994199 [GRCh38]
Chr2:210858923 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2939A>G (p.Lys980Arg) |
single nucleotide variant |
not provided [RCV002017868] |
Chr2:209834165 [GRCh38]
Chr2:210698889 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4163A>G (p.Tyr1388Cys) |
single nucleotide variant |
not provided [RCV001980626] |
Chr2:209888147 [GRCh38]
Chr2:210752871 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1657C>T (p.Pro553Ser) |
single nucleotide variant |
not provided [RCV001960315] |
Chr2:209817916 [GRCh38]
Chr2:210682640 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.601-5C>G |
single nucleotide variant |
not provided [RCV001925099] |
Chr2:209786061 [GRCh38]
Chr2:210650785 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.9913T>C (p.Phe3305Leu) |
single nucleotide variant |
not provided [RCV002036122] |
Chr2:209995533 [GRCh38]
Chr2:210860257 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4028C>T (p.Ala1343Val) |
single nucleotide variant |
not provided [RCV002036134] |
Chr2:209881012 [GRCh38]
Chr2:210745736 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8948G>A (p.Gly2983Asp) |
single nucleotide variant |
not provided [RCV001907146] |
Chr2:209978538 [GRCh38]
Chr2:210843262 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9159A>C (p.Glu3053Asp) |
single nucleotide variant |
not provided [RCV001940514] |
Chr2:209982219 [GRCh38]
Chr2:210846943 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2260G>A (p.Gly754Arg) |
single nucleotide variant |
not provided [RCV001926172] |
Chr2:209820608 [GRCh38]
Chr2:210685332 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8380+1G>T |
single nucleotide variant |
not provided [RCV001959337] |
Chr2:209972325 [GRCh38]
Chr2:210837049 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.959C>T (p.Pro320Leu) |
single nucleotide variant |
not provided [RCV002035010] |
Chr2:209813600 [GRCh38]
Chr2:210678324 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1822A>G (p.Met608Val) |
single nucleotide variant |
not provided [RCV001884585] |
Chr2:209819121 [GRCh38]
Chr2:210683845 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3211C>T (p.Arg1071Cys) |
single nucleotide variant |
not provided [RCV001959470] |
Chr2:209839391 [GRCh38]
Chr2:210704115 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6266T>C (p.Leu2089Pro) |
single nucleotide variant |
not provided [RCV001959433] |
Chr2:209935801 [GRCh38]
Chr2:210800525 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3400G>A (p.Gly1134Arg) |
single nucleotide variant |
not provided [RCV001997732] |
Chr2:209842392 [GRCh38]
Chr2:210707116 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3954G>T (p.Glu1318Asp) |
single nucleotide variant |
not provided [RCV001981086] |
Chr2:209878067 [GRCh38]
Chr2:210742791 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6350T>C (p.Ile2117Thr) |
single nucleotide variant |
not provided [RCV001998675] |
Chr2:209936920 [GRCh38]
Chr2:210801644 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1136C>A (p.Pro379His) |
single nucleotide variant |
not provided [RCV001961009] |
Chr2:209813777 [GRCh38]
Chr2:210678501 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9404G>T (p.Arg3135Leu) |
single nucleotide variant |
not provided [RCV001923656] |
Chr2:209993322 [GRCh38]
Chr2:210858046 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2776-3C>T |
single nucleotide variant |
not provided [RCV001884834] |
Chr2:209833999 [GRCh38]
Chr2:210698723 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6040A>G (p.Met2014Val) |
single nucleotide variant |
not provided [RCV001998722] |
Chr2:209933867 [GRCh38]
Chr2:210798591 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5269G>A (p.Val1757Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003170472]|not provided [RCV001999093] |
Chr2:209918589 [GRCh38]
Chr2:210783313 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7287-2A>C |
single nucleotide variant |
not provided [RCV001973729] |
Chr2:209954098 [GRCh38]
Chr2:210818822 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.7856A>C (p.Gln2619Pro) |
single nucleotide variant |
not provided [RCV001952752] |
Chr2:209967487 [GRCh38]
Chr2:210832211 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.601-7C>G |
single nucleotide variant |
not provided [RCV002011429] |
Chr2:209786059 [GRCh38]
Chr2:210650783 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.7526C>T (p.Thr2509Ile) |
single nucleotide variant |
not provided [RCV001901549] |
Chr2:209957712 [GRCh38]
Chr2:210822436 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9033G>A (p.Thr3011=) |
single nucleotide variant |
not provided [RCV002016303] |
Chr2:209978623 [GRCh38]
Chr2:210843347 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.5953G>A (p.Asp1985Asn) |
single nucleotide variant |
not provided [RCV002019005] |
Chr2:209931013 [GRCh38]
Chr2:210795737 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.458A>T (p.Glu153Val) |
single nucleotide variant |
not provided [RCV002030522] |
Chr2:209777417 [GRCh38]
Chr2:210642141 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9095G>A (p.Arg3032Gln) |
single nucleotide variant |
not provided [RCV002051354] |
Chr2:209978685 [GRCh38]
Chr2:210843409 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8843G>A (p.Arg2948Gln) |
single nucleotide variant |
not provided [RCV002013279] |
Chr2:209976983 [GRCh38]
Chr2:210841707 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2816A>G (p.Lys939Arg) |
single nucleotide variant |
not provided [RCV002049724] |
Chr2:209834042 [GRCh38]
Chr2:210698766 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8812G>A (p.Ala2938Thr) |
single nucleotide variant |
not provided [RCV002046992] |
Chr2:209976952 [GRCh38]
Chr2:210841676 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4652A>G (p.Tyr1551Cys) |
single nucleotide variant |
not provided [RCV001898121] |
Chr2:209904835 [GRCh38]
Chr2:210769559 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7645C>T (p.Arg2549Ter) |
single nucleotide variant |
not provided [RCV001951098] |
Chr2:209959547 [GRCh38]
Chr2:210824271 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.1079G>T (p.Arg360Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002557602]|not provided [RCV001915997] |
Chr2:209813720 [GRCh38]
Chr2:210678444 [GRCh37]
Chr2:2q34 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371986.1(UNC80):c.7000C>A (p.Pro2334Thr) |
single nucleotide variant |
not provided [RCV002012614] |
Chr2:209943464 [GRCh38]
Chr2:210808188 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9517A>G (p.Lys3173Glu) |
single nucleotide variant |
not provided [RCV001952147] |
Chr2:209994073 [GRCh38]
Chr2:210858797 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.355A>T (p.Met119Leu) |
single nucleotide variant |
not provided [RCV001954804] |
Chr2:209777314 [GRCh38]
Chr2:210642038 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6732C>T (p.Ser2244=) |
single nucleotide variant |
not provided [RCV001921421] |
Chr2:209941306 [GRCh38]
Chr2:210806030 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.4110+1G>C |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002225960]|not provided [RCV002046331] |
Chr2:209881095 [GRCh38]
Chr2:210745819 [GRCh37]
Chr2:2q34 |
likely pathogenic|not provided |
| NM_001371986.1(UNC80):c.2045G>T (p.Cys682Phe) |
single nucleotide variant |
not provided [RCV002013579] |
Chr2:209820393 [GRCh38]
Chr2:210685117 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4195G>A (p.Asp1399Asn) |
single nucleotide variant |
not provided [RCV001956895] |
Chr2:209888179 [GRCh38]
Chr2:210752903 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3019C>T (p.Arg1007Cys) |
single nucleotide variant |
not provided [RCV001937475] |
Chr2:209834988 [GRCh38]
Chr2:210699712 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5620C>T (p.Arg1874Cys) |
single nucleotide variant |
not provided [RCV001897489] |
Chr2:209922341 [GRCh38]
Chr2:210787065 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1564C>T (p.Arg522Trp) |
single nucleotide variant |
not provided [RCV001932636] |
Chr2:209817823 [GRCh38]
Chr2:210682547 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3042C>T (p.His1014=) |
single nucleotide variant |
not provided [RCV002049952] |
Chr2:209839222 [GRCh38]
Chr2:210703946 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.50G>T (p.Gly17Val) |
single nucleotide variant |
not provided [RCV002049997] |
Chr2:209772122 [GRCh38]
Chr2:210636846 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2449C>T (p.Arg817Cys) |
single nucleotide variant |
not provided [RCV001920647] |
Chr2:209826024 [GRCh38]
Chr2:210690748 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1255T>A (p.Ser419Thr) |
single nucleotide variant |
not provided [RCV001958235] |
Chr2:209815311 [GRCh38]
Chr2:210680035 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2935A>G (p.Ser979Gly) |
single nucleotide variant |
not provided [RCV001897609] |
Chr2:209834161 [GRCh38]
Chr2:210698885 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6273+4G>A |
single nucleotide variant |
not provided [RCV002028513] |
Chr2:209935812 [GRCh38]
Chr2:210800536 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5000G>C (p.Ser1667Thr) |
single nucleotide variant |
not provided [RCV001900346] |
Chr2:209913911 [GRCh38]
Chr2:210778635 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6250A>T (p.Thr2084Ser) |
single nucleotide variant |
not provided [RCV001921774] |
Chr2:209935785 [GRCh38]
Chr2:210800509 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3020G>A (p.Arg1007His) |
single nucleotide variant |
not provided [RCV001870027] |
Chr2:209834989 [GRCh38]
Chr2:210699713 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1829A>G (p.His610Arg) |
single nucleotide variant |
not provided [RCV001903364] |
Chr2:209819128 [GRCh38]
Chr2:210683852 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6293A>G (p.Asn2098Ser) |
single nucleotide variant |
not provided [RCV001978258] |
Chr2:209936863 [GRCh38]
Chr2:210801587 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9728A>C (p.Glu3243Ala) |
single nucleotide variant |
not provided [RCV001938006] |
Chr2:209995348 [GRCh38]
Chr2:210860072 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6851C>T (p.Ala2284Val) |
single nucleotide variant |
not provided [RCV001877728] |
Chr2:209941425 [GRCh38]
Chr2:210806149 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9433A>G (p.Thr3145Ala) |
single nucleotide variant |
not provided [RCV002029392] |
Chr2:209993351 [GRCh38]
Chr2:210858075 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1904C>T (p.Thr635Ile) |
single nucleotide variant |
not provided [RCV001936487] |
Chr2:209819203 [GRCh38]
Chr2:210683927 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4622C>T (p.Thr1541Ile) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003333201]|Inborn genetic diseases [RCV002657706]|UNC80-related condition [RCV003395349]|not provided [RCV002047669] |
Chr2:209904805 [GRCh38]
Chr2:210769529 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9679_9697del (p.Ala3227fs) |
deletion |
not provided [RCV001975377] |
Chr2:209994234..209994252 [GRCh38]
Chr2:210858958..210858976 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2388A>G (p.Ile796Met) |
single nucleotide variant |
not provided [RCV001995413] |
Chr2:209825963 [GRCh38]
Chr2:210690687 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.398G>T (p.Gly133Val) |
single nucleotide variant |
not provided [RCV001989477] |
Chr2:209777357 [GRCh38]
Chr2:210642081 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5070C>T (p.Ala1690=) |
single nucleotide variant |
UNC80-related condition [RCV003958586]|not provided [RCV002210357] |
Chr2:209917817 [GRCh38]
Chr2:210782541 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6273+16_6273+30del |
deletion |
not provided [RCV002087209] |
Chr2:209935820..209935834 [GRCh38]
Chr2:210800544..210800558 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3357+15A>G |
single nucleotide variant |
not provided [RCV002126351] |
Chr2:209840663 [GRCh38]
Chr2:210705387 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8381-20T>G |
single nucleotide variant |
not provided [RCV002186019] |
Chr2:209973044 [GRCh38]
Chr2:210837768 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7713G>A (p.Lys2571=) |
single nucleotide variant |
not provided [RCV002107026] |
Chr2:209959615 [GRCh38]
Chr2:210824339 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7550+13G>A |
single nucleotide variant |
not provided [RCV002170264] |
Chr2:209957749 [GRCh38]
Chr2:210822473 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5745A>G (p.Ala1915=) |
single nucleotide variant |
UNC80-related condition [RCV003895946]|not provided [RCV002126598] |
Chr2:209926925 [GRCh38]
Chr2:210791649 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3357+20T>C |
single nucleotide variant |
not provided [RCV002089099] |
Chr2:209840668 [GRCh38]
Chr2:210705392 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8565C>A (p.Ser2855=) |
single nucleotide variant |
not provided [RCV002190943] |
Chr2:209973248 [GRCh38]
Chr2:210837972 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1201-14C>G |
single nucleotide variant |
not provided [RCV002128316] |
Chr2:209815243 [GRCh38]
Chr2:210679967 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7368A>G (p.Thr2456=) |
single nucleotide variant |
not provided [RCV002110111] |
Chr2:209954181 [GRCh38]
Chr2:210818905 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3358-11del |
deletion |
not provided [RCV002092164] |
Chr2:209842331 [GRCh38]
Chr2:210707055 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.5985C>T (p.Phe1995=) |
single nucleotide variant |
not provided [RCV002090328] |
Chr2:209931045 [GRCh38]
Chr2:210795769 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7407T>C (p.Ala2469=) |
single nucleotide variant |
not provided [RCV002107548] |
Chr2:209954220 [GRCh38]
Chr2:210818944 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5212-17dup |
duplication |
not provided [RCV002125710] |
Chr2:209918514..209918515 [GRCh38]
Chr2:210783238..210783239 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8484C>T (p.Phe2828=) |
single nucleotide variant |
not provided [RCV002190801] |
Chr2:209973167 [GRCh38]
Chr2:210837891 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6030C>T (p.Cys2010=) |
single nucleotide variant |
not provided [RCV002166662] |
Chr2:209933857 [GRCh38]
Chr2:210798581 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3149C>T (p.Thr1050Ile) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003138084]|not provided [RCV002147153] |
Chr2:209839329 [GRCh38]
Chr2:210704053 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.298+11C>T |
single nucleotide variant |
not provided [RCV002106129] |
Chr2:209776056 [GRCh38]
Chr2:210640780 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8745G>A (p.Val2915=) |
single nucleotide variant |
not provided [RCV002111299] |
Chr2:209976276 [GRCh38]
Chr2:210841000 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2091G>A (p.Lys697=) |
single nucleotide variant |
not provided [RCV002125957] |
Chr2:209820439 [GRCh38]
Chr2:210685163 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9397-14C>G |
single nucleotide variant |
not provided [RCV002186726] |
Chr2:209993301 [GRCh38]
Chr2:210858025 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8718C>T (p.Ile2906=) |
single nucleotide variant |
not provided [RCV002145713] |
Chr2:209976249 [GRCh38]
Chr2:210840973 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.600+11A>T |
single nucleotide variant |
not provided [RCV002127475] |
Chr2:209777570 [GRCh38]
Chr2:210642294 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.7699A>T (p.Thr2567Ser) |
single nucleotide variant |
not provided [RCV002224940] |
Chr2:209959601 [GRCh38]
Chr2:210824325 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3333C>G (p.Leu1111=) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002243524]|not provided [RCV002146466] |
Chr2:209840624 [GRCh38]
Chr2:210705348 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.9396+20G>A |
single nucleotide variant |
not provided [RCV002089386] |
Chr2:209992267 [GRCh38]
Chr2:210856991 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3358-11dup |
duplication |
not provided [RCV002074766] |
Chr2:209842330..209842331 [GRCh38]
Chr2:210707054..210707055 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.6436G>A (p.Glu2146Lys) |
single nucleotide variant |
not provided [RCV002224939] |
Chr2:209937601 [GRCh38]
Chr2:210802325 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6646+20T>G |
single nucleotide variant |
not provided [RCV002187224] |
Chr2:209939672 [GRCh38]
Chr2:210804396 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4155G>A (p.Arg1385=) |
single nucleotide variant |
not provided [RCV002205370] |
Chr2:209888139 [GRCh38]
Chr2:210752863 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.299-9C>T |
single nucleotide variant |
not provided [RCV002148074] |
Chr2:209777249 [GRCh38]
Chr2:210641973 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5046G>A (p.Leu1682=) |
single nucleotide variant |
not provided [RCV002111475] |
Chr2:209917793 [GRCh38]
Chr2:210782517 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3251-13A>C |
single nucleotide variant |
not provided [RCV002169939] |
Chr2:209840529 [GRCh38]
Chr2:210705253 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.9397-13C>G |
single nucleotide variant |
not provided [RCV002149287] |
Chr2:209993302 [GRCh38]
Chr2:210858026 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7050+27dup |
duplication |
not provided [RCV002128811] |
Chr2:209943532..209943533 [GRCh38]
Chr2:210808256..210808257 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.6758T>C (p.Met2253Thr) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002507937]|not provided [RCV002075433] |
Chr2:209941332 [GRCh38]
Chr2:210806056 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.4209C>T (p.Asp1403=) |
single nucleotide variant |
not provided [RCV002170092] |
Chr2:209888193 [GRCh38]
Chr2:210752917 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.156G>A (p.Val52=) |
single nucleotide variant |
not provided [RCV002105091] |
Chr2:209775903 [GRCh38]
Chr2:210640627 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.903C>G (p.Ser301=) |
single nucleotide variant |
UNC80-related condition [RCV003895935]|not provided [RCV002128413] |
Chr2:209793824 [GRCh38]
Chr2:210658548 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8358C>G (p.Leu2786=) |
single nucleotide variant |
not provided [RCV002168615] |
Chr2:209972302 [GRCh38]
Chr2:210837026 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2052T>G (p.Leu684=) |
single nucleotide variant |
not provided [RCV002084585] |
Chr2:209820400 [GRCh38]
Chr2:210685124 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1200+18C>G |
single nucleotide variant |
not provided [RCV002165407] |
Chr2:209813859 [GRCh38]
Chr2:210678583 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6585C>A (p.Arg2195=) |
single nucleotide variant |
not provided [RCV002104508] |
Chr2:209939591 [GRCh38]
Chr2:210804315 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6699G>A (p.Gln2233=) |
single nucleotide variant |
not provided [RCV002107328] |
Chr2:209941273 [GRCh38]
Chr2:210805997 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3465T>C (p.Ser1155=) |
single nucleotide variant |
not provided [RCV002189278] |
Chr2:209849461 [GRCh38]
Chr2:210714185 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3285G>A (p.Leu1095=) |
single nucleotide variant |
not provided [RCV002091146] |
Chr2:209840576 [GRCh38]
Chr2:210705300 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2626+15A>G |
single nucleotide variant |
not provided [RCV002086631] |
Chr2:209829394 [GRCh38]
Chr2:210694118 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7587-17C>T |
single nucleotide variant |
not provided [RCV002109015] |
Chr2:209959472 [GRCh38]
Chr2:210824196 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4890+20_4890+22del |
deletion |
not provided [RCV002187254] |
Chr2:209912685..209912687 [GRCh38]
Chr2:210777409..210777411 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6312A>C (p.Ser2104=) |
single nucleotide variant |
not provided [RCV002209218] |
Chr2:209936882 [GRCh38]
Chr2:210801606 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8007-14A>G |
single nucleotide variant |
not provided [RCV002207744] |
Chr2:209969754 [GRCh38]
Chr2:210834478 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7551-17G>C |
single nucleotide variant |
not provided [RCV002145935] |
Chr2:209959102 [GRCh38]
Chr2:210823826 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7550+12C>T |
single nucleotide variant |
not provided [RCV002128682] |
Chr2:209957748 [GRCh38]
Chr2:210822472 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7833G>A (p.Leu2611=) |
single nucleotide variant |
not provided [RCV002147191] |
Chr2:209967464 [GRCh38]
Chr2:210832188 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3455-12C>A |
single nucleotide variant |
not provided [RCV002129107] |
Chr2:209849439 [GRCh38]
Chr2:210714163 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4582-19del |
deletion |
not provided [RCV002148150] |
Chr2:209904746 [GRCh38]
Chr2:210769470 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.807G>A (p.Gln269=) |
single nucleotide variant |
not provided [RCV002168459] |
Chr2:209793728 [GRCh38]
Chr2:210658452 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.939-12G>A |
single nucleotide variant |
not provided [RCV002146112] |
Chr2:209813568 [GRCh38]
Chr2:210678292 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1553-14C>G |
single nucleotide variant |
not provided [RCV002208116] |
Chr2:209817798 [GRCh38]
Chr2:210682522 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2942+10T>C |
single nucleotide variant |
not provided [RCV002125277] |
Chr2:209834178 [GRCh38]
Chr2:210698902 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3627+17A>C |
single nucleotide variant |
not provided [RCV002129867] |
Chr2:209849640 [GRCh38]
Chr2:210714364 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.3250+46C>A |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002245249] |
Chr2:209839476 [GRCh38]
Chr2:210704200 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.7806-17AT[7] |
microsatellite |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002500057]|not provided [RCV002125033] |
Chr2:209967419..209967420 [GRCh38]
Chr2:210832143..210832144 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.9666C>T (p.Pro3222=) |
single nucleotide variant |
not provided [RCV002126176] |
Chr2:209994222 [GRCh38]
Chr2:210858946 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8130+8G>T |
single nucleotide variant |
not provided [RCV002089740] |
Chr2:209969899 [GRCh38]
Chr2:210834623 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9315-4G>A |
single nucleotide variant |
not provided [RCV002144968] |
Chr2:209992162 [GRCh38]
Chr2:210856886 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8006+8T>C |
single nucleotide variant |
UNC80-related condition [RCV003893269]|not provided [RCV002104697] |
Chr2:209967645 [GRCh38]
Chr2:210832369 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5530+12dup |
duplication |
not provided [RCV002084942] |
Chr2:209921697..209921698 [GRCh38]
Chr2:210786421..210786422 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3041+11T>C |
single nucleotide variant |
not provided [RCV002187274] |
Chr2:209835021 [GRCh38]
Chr2:210699745 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8773-18G>A |
single nucleotide variant |
not provided [RCV002188434] |
Chr2:209976895 [GRCh38]
Chr2:210841619 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8824A>G (p.Ile2942Val) |
single nucleotide variant |
not provided [RCV002191702] |
Chr2:209976964 [GRCh38]
Chr2:210841688 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.54C>T (p.Ile18=) |
single nucleotide variant |
not provided [RCV002127972] |
Chr2:209772126 [GRCh38]
Chr2:210636850 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2874C>T (p.Ala958=) |
single nucleotide variant |
not provided [RCV002075196] |
Chr2:209834100 [GRCh38]
Chr2:210698824 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5625G>T (p.Gly1875=) |
single nucleotide variant |
not provided [RCV002089870] |
Chr2:209922346 [GRCh38]
Chr2:210787070 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8587+12del |
deletion |
not provided [RCV002167711] |
Chr2:209973282 [GRCh38]
Chr2:210838006 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7805+11C>T |
single nucleotide variant |
not provided [RCV002191916] |
Chr2:209959718 [GRCh38]
Chr2:210824442 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.938+8A>T |
single nucleotide variant |
not provided [RCV002192309] |
Chr2:209793867 [GRCh38]
Chr2:210658591 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7805+7G>A |
single nucleotide variant |
not provided [RCV002152346] |
Chr2:209959714 [GRCh38]
Chr2:210824438 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1173C>T (p.Pro391=) |
single nucleotide variant |
not provided [RCV002135111] |
Chr2:209813814 [GRCh38]
Chr2:210678538 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4035G>A (p.Gln1345=) |
single nucleotide variant |
not provided [RCV002173517] |
Chr2:209881019 [GRCh38]
Chr2:210745743 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6771C>T (p.Asn2257=) |
single nucleotide variant |
not provided [RCV002189429] |
Chr2:209941345 [GRCh38]
Chr2:210806069 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1761C>T (p.Gly587=) |
single nucleotide variant |
not provided [RCV002131194] |
Chr2:209819060 [GRCh38]
Chr2:210683784 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5373C>T (p.Arg1791=) |
single nucleotide variant |
not provided [RCV002095744] |
Chr2:209921529 [GRCh38]
Chr2:210786253 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.984C>T (p.Thr328=) |
single nucleotide variant |
not provided [RCV002215960] |
Chr2:209813625 [GRCh38]
Chr2:210678349 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9804C>T (p.Asp3268=) |
single nucleotide variant |
not provided [RCV002197637] |
Chr2:209995424 [GRCh38]
Chr2:210860148 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5499A>G (p.Thr1833=) |
single nucleotide variant |
not provided [RCV002096101] |
Chr2:209921655 [GRCh38]
Chr2:210786379 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9702C>A (p.Pro3234=) |
single nucleotide variant |
not provided [RCV002186704] |
Chr2:209994258 [GRCh38]
Chr2:210858982 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2577G>T (p.Val859=) |
single nucleotide variant |
not provided [RCV002193426] |
Chr2:209829330 [GRCh38]
Chr2:210694054 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6179-4G>A |
single nucleotide variant |
not provided [RCV002076782] |
Chr2:209935710 [GRCh38]
Chr2:210800434 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6993C>T (p.His2331=) |
single nucleotide variant |
not provided [RCV002211878] |
Chr2:209943457 [GRCh38]
Chr2:210808181 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8006+17G>A |
single nucleotide variant |
not provided [RCV002171054] |
Chr2:209967654 [GRCh38]
Chr2:210832378 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8587+11TC[9] |
microsatellite |
not provided [RCV002134384] |
Chr2:209973280..209973281 [GRCh38]
Chr2:210838004..210838005 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3628-5C>T |
single nucleotide variant |
not provided [RCV002197435] |
Chr2:209872753 [GRCh38]
Chr2:210737477 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1336-20T>C |
single nucleotide variant |
not provided [RCV002184948] |
Chr2:209816889 [GRCh38]
Chr2:210681613 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9102T>C (p.Asp3034=) |
single nucleotide variant |
not provided [RCV002171887] |
Chr2:209978692 [GRCh38]
Chr2:210843416 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1962+14A>C |
single nucleotide variant |
not provided [RCV002212799] |
Chr2:209819275 [GRCh38]
Chr2:210683999 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2943-10A>T |
single nucleotide variant |
UNC80-related condition [RCV003893176]|not provided [RCV002211503] |
Chr2:209834902 [GRCh38]
Chr2:210699626 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2331+9G>A |
single nucleotide variant |
not provided [RCV002170287] |
Chr2:209820688 [GRCh38]
Chr2:210685412 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5397C>A (p.Ile1799=) |
single nucleotide variant |
not provided [RCV002093039] |
Chr2:209921553 [GRCh38]
Chr2:210786277 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.601-9C>T |
single nucleotide variant |
not provided [RCV002193213] |
Chr2:209786057 [GRCh38]
Chr2:210650781 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5172C>T (p.Val1724=) |
single nucleotide variant |
not provided [RCV002132808] |
Chr2:209917919 [GRCh38]
Chr2:210782643 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6780C>T (p.Asn2260=) |
single nucleotide variant |
not provided [RCV002096826] |
Chr2:209941354 [GRCh38]
Chr2:210806078 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4276+7A>G |
single nucleotide variant |
not provided [RCV002194514] |
Chr2:209888267 [GRCh38]
Chr2:210752991 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1773T>C (p.Phe591=) |
single nucleotide variant |
not provided [RCV002149591] |
Chr2:209819072 [GRCh38]
Chr2:210683796 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5109G>A (p.Glu1703=) |
single nucleotide variant |
not provided [RCV002113623] |
Chr2:209917856 [GRCh38]
Chr2:210782580 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9027G>A (p.Thr3009=) |
single nucleotide variant |
not provided [RCV002115005] |
Chr2:209978617 [GRCh38]
Chr2:210843341 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.799-16T>C |
single nucleotide variant |
not provided [RCV002174493] |
Chr2:209793704 [GRCh38]
Chr2:210658428 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4891-12A>G |
single nucleotide variant |
not provided [RCV002086983] |
Chr2:209913790 [GRCh38]
Chr2:210778514 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6582C>T (p.Leu2194=) |
single nucleotide variant |
not provided [RCV002194795] |
Chr2:209939588 [GRCh38]
Chr2:210804312 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.313T>C (p.Leu105=) |
single nucleotide variant |
not provided [RCV002172736] |
Chr2:209777272 [GRCh38]
Chr2:210641996 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6837C>T (p.Thr2279=) |
single nucleotide variant |
not provided [RCV002096353] |
Chr2:209941411 [GRCh38]
Chr2:210806135 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3372T>G (p.Ser1124Arg) |
single nucleotide variant |
not provided [RCV002212099] |
Chr2:209842364 [GRCh38]
Chr2:210707088 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.9118+15A>G |
single nucleotide variant |
not provided [RCV002173127] |
Chr2:209978723 [GRCh38]
Chr2:210843447 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8939-10C>T |
single nucleotide variant |
not provided [RCV002152629] |
Chr2:209978519 [GRCh38]
Chr2:210843243 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2460C>A (p.His820Gln) |
single nucleotide variant |
not provided [RCV002096985] |
Chr2:209826035 [GRCh38]
Chr2:210690759 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7551-14T>C |
single nucleotide variant |
not provided [RCV002134977] |
Chr2:209959105 [GRCh38]
Chr2:210823829 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2022C>T (p.Asp674=) |
single nucleotide variant |
not provided [RCV002079199] |
Chr2:209820370 [GRCh38]
Chr2:210685094 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.813T>C (p.Val271=) |
single nucleotide variant |
not provided [RCV002215084] |
Chr2:209793734 [GRCh38]
Chr2:210658458 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4581+11A>G |
single nucleotide variant |
not provided [RCV002153239] |
Chr2:209896424 [GRCh38]
Chr2:210761148 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3841-13C>G |
single nucleotide variant |
not provided [RCV002087221] |
Chr2:209877941 [GRCh38]
Chr2:210742665 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8954C>T (p.Thr2985Ile) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002226415] |
Chr2:209978544 [GRCh38]
Chr2:210843268 [GRCh37]
Chr2:2q34 |
not provided |
| NM_001371986.1(UNC80):c.8061A>C (p.Thr2687=) |
single nucleotide variant |
not provided [RCV002196415] |
Chr2:209969822 [GRCh38]
Chr2:210834546 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5807-4G>C |
single nucleotide variant |
not provided [RCV002194052] |
Chr2:209929867 [GRCh38]
Chr2:210794591 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8587+10_8587+13dup |
duplication |
not provided [RCV002188840] |
Chr2:209973277..209973278 [GRCh38]
Chr2:210838001..210838002 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7805+12G>A |
single nucleotide variant |
not provided [RCV002208531] |
Chr2:209959719 [GRCh38]
Chr2:210824443 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6213G>A (p.Glu2071=) |
single nucleotide variant |
not provided [RCV002172022] |
Chr2:209935748 [GRCh38]
Chr2:210800472 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6552C>G (p.Ser2184=) |
single nucleotide variant |
not provided [RCV002212477] |
Chr2:209939558 [GRCh38]
Chr2:210804282 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4111-12C>T |
single nucleotide variant |
not provided [RCV002133601] |
Chr2:209888083 [GRCh38]
Chr2:210752807 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9315-17C>A |
single nucleotide variant |
not provided [RCV002175085] |
Chr2:209992149 [GRCh38]
Chr2:210856873 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1553-12T>C |
single nucleotide variant |
not provided [RCV002128348] |
Chr2:209817800 [GRCh38]
Chr2:210682524 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9339T>A (p.Pro3113=) |
single nucleotide variant |
not provided [RCV002195485] |
Chr2:209992190 [GRCh38]
Chr2:210856914 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8939-11G>A |
single nucleotide variant |
not provided [RCV002171751] |
Chr2:209978518 [GRCh38]
Chr2:210843242 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7805+12G>T |
single nucleotide variant |
not provided [RCV002134189] |
Chr2:209959719 [GRCh38]
Chr2:210824443 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8089C>T (p.Leu2697=) |
single nucleotide variant |
not provided [RCV002197342] |
Chr2:209969850 [GRCh38]
Chr2:210834574 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8007-18_8007-17delinsTT |
indel |
not provided [RCV002128420] |
Chr2:209969750..209969751 [GRCh38]
Chr2:210834474..210834475 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4581+16A>C |
single nucleotide variant |
not provided [RCV002112213] |
Chr2:209896429 [GRCh38]
Chr2:210761153 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.724+15C>A |
single nucleotide variant |
not provided [RCV002151008] |
Chr2:209786204 [GRCh38]
Chr2:210650928 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3250+15G>T |
single nucleotide variant |
not provided [RCV002212062] |
Chr2:209839445 [GRCh38]
Chr2:210704169 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.298+14A>G |
single nucleotide variant |
not provided [RCV002133306] |
Chr2:209776059 [GRCh38]
Chr2:210640783 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8442C>T (p.Leu2814=) |
single nucleotide variant |
not provided [RCV002185959] |
Chr2:209973125 [GRCh38]
Chr2:210837849 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8938+11A>C |
single nucleotide variant |
not provided [RCV002152809] |
Chr2:209977089 [GRCh38]
Chr2:210841813 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5211+14C>G |
single nucleotide variant |
not provided [RCV002114667] |
Chr2:209917972 [GRCh38]
Chr2:210782696 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2332-7G>T |
single nucleotide variant |
not provided [RCV002095800] |
Chr2:209825900 [GRCh38]
Chr2:210690624 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.8877G>C (p.Ser2959=) |
single nucleotide variant |
not provided [RCV002172102] |
Chr2:209977017 [GRCh38]
Chr2:210841741 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8343C>T (p.Leu2781=) |
single nucleotide variant |
not provided [RCV002094875] |
Chr2:209972287 [GRCh38]
Chr2:210837011 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4678C>T (p.Arg1560Ter) |
single nucleotide variant |
not provided [RCV002214205] |
Chr2:209904861 [GRCh38]
Chr2:210769585 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.8604C>T (p.Leu2868=) |
single nucleotide variant |
not provided [RCV002209206] |
Chr2:209976135 [GRCh38]
Chr2:210840859 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9396+12C>A |
single nucleotide variant |
not provided [RCV002115107] |
Chr2:209992259 [GRCh38]
Chr2:210856983 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3627+21del |
deletion |
not provided [RCV002188172] |
Chr2:209849641 [GRCh38]
Chr2:210714365 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.1455G>A (p.Val485=) |
single nucleotide variant |
not provided [RCV002147435] |
Chr2:209817028 [GRCh38]
Chr2:210681752 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5211+18C>T |
single nucleotide variant |
not provided [RCV002172237] |
Chr2:209917976 [GRCh38]
Chr2:210782700 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1473A>G (p.Thr491=) |
single nucleotide variant |
not provided [RCV002133693] |
Chr2:209817046 [GRCh38]
Chr2:210681770 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9257+9C>T |
single nucleotide variant |
not provided [RCV002084604] |
Chr2:209982326 [GRCh38]
Chr2:210847050 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6647-10G>A |
single nucleotide variant |
not provided [RCV002079983] |
Chr2:209941211 [GRCh38]
Chr2:210805935 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1552+7A>G |
single nucleotide variant |
not provided [RCV002170748] |
Chr2:209817132 [GRCh38]
Chr2:210681856 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9314+12A>G |
single nucleotide variant |
not provided [RCV002193266] |
Chr2:209984924 [GRCh38]
Chr2:210849648 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.299-17G>A |
single nucleotide variant |
not provided [RCV002172983] |
Chr2:209777241 [GRCh38]
Chr2:210641965 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2332-13del |
deletion |
not provided [RCV002079993] |
Chr2:209825893 [GRCh38]
Chr2:210690617 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5212-8A>T |
single nucleotide variant |
not provided [RCV002096630] |
Chr2:209918524 [GRCh38]
Chr2:210783248 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5691G>A (p.Pro1897=) |
single nucleotide variant |
not provided [RCV002206502] |
Chr2:209926871 [GRCh38]
Chr2:210791595 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.93-18T>C |
single nucleotide variant |
not provided [RCV002170489] |
Chr2:209773076 [GRCh38]
Chr2:210637800 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5862G>T (p.Thr1954=) |
single nucleotide variant |
not provided [RCV002106791] |
Chr2:209929926 [GRCh38]
Chr2:210794650 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2436G>A (p.Gly812=) |
single nucleotide variant |
not provided [RCV002071298] |
Chr2:209826011 [GRCh38]
Chr2:210690735 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1608C>T (p.Ser536=) |
single nucleotide variant |
not provided [RCV002193069] |
Chr2:209817867 [GRCh38]
Chr2:210682591 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1336-13C>G |
single nucleotide variant |
not provided [RCV002172392] |
Chr2:209816896 [GRCh38]
Chr2:210681620 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4263C>T (p.Val1421=) |
single nucleotide variant |
UNC80-related condition [RCV003970881]|not provided [RCV002115325] |
Chr2:209888247 [GRCh38]
Chr2:210752971 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5531-17C>A |
single nucleotide variant |
not provided [RCV002194180] |
Chr2:209922235 [GRCh38]
Chr2:210786959 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6363+12G>T |
single nucleotide variant |
not provided [RCV002205517] |
Chr2:209936945 [GRCh38]
Chr2:210801669 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5343+19C>G |
single nucleotide variant |
not provided [RCV002146468] |
Chr2:209918682 [GRCh38]
Chr2:210783406 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9126T>C (p.Ser3042=) |
single nucleotide variant |
not provided [RCV002146502] |
Chr2:209982186 [GRCh38]
Chr2:210846910 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1611C>G (p.Ala537=) |
single nucleotide variant |
not provided [RCV002194337] |
Chr2:209817870 [GRCh38]
Chr2:210682594 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8587+11TC[5] |
microsatellite |
not provided [RCV002132085] |
Chr2:209973281..209973286 [GRCh38]
Chr2:210838005..210838010 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.3609A>G (p.Leu1203=) |
single nucleotide variant |
not provided [RCV002174131] |
Chr2:209849605 [GRCh38]
Chr2:210714329 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6627A>C (p.Ser2209=) |
single nucleotide variant |
not provided [RCV002212136] |
Chr2:209939633 [GRCh38]
Chr2:210804357 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.2736C>T (p.Cys912=) |
single nucleotide variant |
not provided [RCV002193764] |
Chr2:209831552 [GRCh38]
Chr2:210696276 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8730A>C (p.Arg2910=) |
single nucleotide variant |
not provided [RCV002150578] |
Chr2:209976261 [GRCh38]
Chr2:210840985 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4481-10del |
deletion |
not provided [RCV002151891] |
Chr2:209896299 [GRCh38]
Chr2:210761023 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.4704C>T (p.Leu1568=) |
single nucleotide variant |
not provided [RCV002173192] |
Chr2:209904887 [GRCh38]
Chr2:210769611 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9396+19C>T |
single nucleotide variant |
not provided [RCV002153052] |
Chr2:209992266 [GRCh38]
Chr2:210856990 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4276+9A>G |
single nucleotide variant |
not provided [RCV002196693] |
Chr2:209888269 [GRCh38]
Chr2:210752993 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7272C>T (p.Pro2424=) |
single nucleotide variant |
not provided [RCV002091677] |
Chr2:209945929 [GRCh38]
Chr2:210810653 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3900G>C (p.Leu1300=) |
single nucleotide variant |
not provided [RCV002211547] |
Chr2:209878013 [GRCh38]
Chr2:210742737 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3840+10C>T |
single nucleotide variant |
not provided [RCV002088564] |
Chr2:209872980 [GRCh38]
Chr2:210737704 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8982C>T (p.Thr2994=) |
single nucleotide variant |
not provided [RCV002188873] |
Chr2:209978572 [GRCh38]
Chr2:210843296 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6546A>G (p.Lys2182=) |
single nucleotide variant |
not provided [RCV002131059] |
Chr2:209939552 [GRCh38]
Chr2:210804276 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7764G>T (p.Arg2588=) |
single nucleotide variant |
not provided [RCV002174467] |
Chr2:209959666 [GRCh38]
Chr2:210824390 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7050+10C>T |
single nucleotide variant |
not provided [RCV002192113] |
Chr2:209943524 [GRCh38]
Chr2:210808248 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.159G>A (p.Leu53=) |
single nucleotide variant |
not provided [RCV002075448] |
Chr2:209775906 [GRCh38]
Chr2:210640630 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1200+15G>T |
single nucleotide variant |
not provided [RCV002093739] |
Chr2:209813856 [GRCh38]
Chr2:210678580 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8451G>A (p.Pro2817=) |
single nucleotide variant |
not provided [RCV002132764] |
Chr2:209973134 [GRCh38]
Chr2:210837858 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6705G>A (p.Leu2235=) |
single nucleotide variant |
not provided [RCV002195736] |
Chr2:209941279 [GRCh38]
Chr2:210806003 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8006+15G>T |
single nucleotide variant |
not provided [RCV002214906] |
Chr2:209967652 [GRCh38]
Chr2:210832376 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6729G>C (p.Pro2243=) |
single nucleotide variant |
not provided [RCV002214907] |
Chr2:209941303 [GRCh38]
Chr2:210806027 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5616C>T (p.Phe1872=) |
single nucleotide variant |
not provided [RCV002151098] |
Chr2:209922337 [GRCh38]
Chr2:210787061 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2332-11G>C |
single nucleotide variant |
not provided [RCV002210438] |
Chr2:209825896 [GRCh38]
Chr2:210690620 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.7989T>C (p.His2663=) |
single nucleotide variant |
not provided [RCV002113686] |
Chr2:209967620 [GRCh38]
Chr2:210832344 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.375G>A (p.Gln125=) |
single nucleotide variant |
not provided [RCV002172663] |
Chr2:209777334 [GRCh38]
Chr2:210642058 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1552+14C>T |
single nucleotide variant |
not provided [RCV002210623] |
Chr2:209817139 [GRCh38]
Chr2:210681863 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8772+9T>C |
single nucleotide variant |
not provided [RCV002212433] |
Chr2:209976312 [GRCh38]
Chr2:210841036 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4767C>A (p.Gly1589=) |
single nucleotide variant |
not provided [RCV002185579] |
Chr2:209904950 [GRCh38]
Chr2:210769674 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3840+14T>A |
single nucleotide variant |
not provided [RCV002150345] |
Chr2:209872984 [GRCh38]
Chr2:210737708 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1470C>T (p.Ser490=) |
single nucleotide variant |
not provided [RCV002095152] |
Chr2:209817043 [GRCh38]
Chr2:210681767 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2627-17G>A |
single nucleotide variant |
not provided [RCV002115695] |
Chr2:209831426 [GRCh38]
Chr2:210696150 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.1553-16C>G |
single nucleotide variant |
not provided [RCV002150231] |
Chr2:209817796 [GRCh38]
Chr2:210682520 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.725-11C>T |
single nucleotide variant |
not provided [RCV002195221] |
Chr2:209789521 [GRCh38]
Chr2:210654245 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6646+9C>G |
single nucleotide variant |
not provided [RCV002196438] |
Chr2:209939661 [GRCh38]
Chr2:210804385 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2931A>G (p.Ala977=) |
single nucleotide variant |
not provided [RCV002190858] |
Chr2:209834157 [GRCh38]
Chr2:210698881 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7458-15C>T |
single nucleotide variant |
not provided [RCV002149883] |
Chr2:209957629 [GRCh38]
Chr2:210822353 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.8211G>A (p.Leu2737=) |
single nucleotide variant |
not provided [RCV002093949] |
Chr2:209970912 [GRCh38]
Chr2:210835636 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2835C>T (p.Val945=) |
single nucleotide variant |
not provided [RCV002218029] |
Chr2:209834061 [GRCh38]
Chr2:210698785 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.3915C>T (p.Tyr1305=) |
single nucleotide variant |
not provided [RCV002203359] |
Chr2:209878028 [GRCh38]
Chr2:210742752 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7413G>A (p.Ala2471=) |
single nucleotide variant |
not provided [RCV002103774] |
Chr2:209954226 [GRCh38]
Chr2:210818950 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.993C>T (p.Asp331=) |
single nucleotide variant |
not provided [RCV002197697] |
Chr2:209813634 [GRCh38]
Chr2:210678358 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9258-10C>T |
single nucleotide variant |
not provided [RCV002083262] |
Chr2:209984846 [GRCh38]
Chr2:210849570 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.624G>T (p.Leu208=) |
single nucleotide variant |
not provided [RCV002137363] |
Chr2:209786089 [GRCh38]
Chr2:210650813 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1336-7A>G |
single nucleotide variant |
not provided [RCV002137364] |
Chr2:209816902 [GRCh38]
Chr2:210681626 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7587-5C>T |
single nucleotide variant |
not provided [RCV002181025] |
Chr2:209959484 [GRCh38]
Chr2:210824208 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8588-17C>G |
single nucleotide variant |
not provided [RCV002155827] |
Chr2:209976102 [GRCh38]
Chr2:210840826 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1437C>T (p.His479=) |
single nucleotide variant |
not provided [RCV002203539] |
Chr2:209817010 [GRCh38]
Chr2:210681734 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.897G>A (p.Leu299=) |
single nucleotide variant |
not provided [RCV002137296] |
Chr2:209793818 [GRCh38]
Chr2:210658542 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9257+14G>A |
single nucleotide variant |
not provided [RCV002139111] |
Chr2:209982331 [GRCh38]
Chr2:210847055 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4782+16T>C |
single nucleotide variant |
not provided [RCV002218711] |
Chr2:209904981 [GRCh38]
Chr2:210769705 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.894T>C (p.Ser298=) |
single nucleotide variant |
not provided [RCV002083614] |
Chr2:209793815 [GRCh38]
Chr2:210658539 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6364-14T>C |
single nucleotide variant |
not provided [RCV002156346] |
Chr2:209937515 [GRCh38]
Chr2:210802239 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8006+14C>T |
single nucleotide variant |
not provided [RCV002141276] |
Chr2:209967651 [GRCh38]
Chr2:210832375 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2776-12G>T |
single nucleotide variant |
not provided [RCV002137782] |
Chr2:209833990 [GRCh38]
Chr2:210698714 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5212-15G>C |
single nucleotide variant |
not provided [RCV002123976] |
Chr2:209918517 [GRCh38]
Chr2:210783241 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6466-17G>T |
single nucleotide variant |
not provided [RCV002123977] |
Chr2:209939455 [GRCh38]
Chr2:210804179 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2626+16C>G |
single nucleotide variant |
not provided [RCV002156798] |
Chr2:209829395 [GRCh38]
Chr2:210694119 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4176C>T (p.Ile1392=) |
single nucleotide variant |
not provided [RCV002179992] |
Chr2:209888160 [GRCh38]
Chr2:210752884 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6027C>T (p.Pro2009=) |
single nucleotide variant |
not provided [RCV002124069] |
Chr2:209933854 [GRCh38]
Chr2:210798578 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3906T>A (p.Gly1302=) |
single nucleotide variant |
not provided [RCV002141919] |
Chr2:209878019 [GRCh38]
Chr2:210742743 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2627-14C>T |
single nucleotide variant |
not provided [RCV002082341] |
Chr2:209831429 [GRCh38]
Chr2:210696153 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3041+9C>A |
single nucleotide variant |
not provided [RCV002100797] |
Chr2:209835019 [GRCh38]
Chr2:210699743 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8109G>T (p.Leu2703=) |
single nucleotide variant |
UNC80-related condition [RCV003958798]|not provided [RCV002155138] |
Chr2:209969870 [GRCh38]
Chr2:210834594 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2595G>A (p.Leu865=) |
single nucleotide variant |
not provided [RCV002101061] |
Chr2:209829348 [GRCh38]
Chr2:210694072 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4086C>T (p.Pro1362=) |
single nucleotide variant |
not provided [RCV002202446] |
Chr2:209881070 [GRCh38]
Chr2:210745794 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7050+27del |
deletion |
not provided [RCV002202468] |
Chr2:209943533 [GRCh38]
Chr2:210808257 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.963C>T (p.Cys321=) |
single nucleotide variant |
not provided [RCV002118839] |
Chr2:209813604 [GRCh38]
Chr2:210678328 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.690C>T (p.Thr230=) |
single nucleotide variant |
not provided [RCV002140086] |
Chr2:209786155 [GRCh38]
Chr2:210650879 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.720T>C (p.Ile240=) |
single nucleotide variant |
not provided [RCV002157150] |
Chr2:209786185 [GRCh38]
Chr2:210650909 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3251-11C>G |
single nucleotide variant |
not provided [RCV002082849] |
Chr2:209840531 [GRCh38]
Chr2:210705255 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9509-15C>G |
single nucleotide variant |
not provided [RCV002120993] |
Chr2:209994050 [GRCh38]
Chr2:210858774 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6582C>G (p.Leu2194=) |
single nucleotide variant |
not provided [RCV002180480] |
Chr2:209939588 [GRCh38]
Chr2:210804312 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3627+15G>T |
single nucleotide variant |
not provided [RCV002155627] |
Chr2:209849638 [GRCh38]
Chr2:210714362 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2667C>T (p.Asn889=) |
single nucleotide variant |
not provided [RCV002180926] |
Chr2:209831483 [GRCh38]
Chr2:210696207 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9258-11C>A |
single nucleotide variant |
not provided [RCV002218416] |
Chr2:209984845 [GRCh38]
Chr2:210849569 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7938G>A (p.Pro2646=) |
single nucleotide variant |
UNC80-related condition [RCV003951297]|not provided [RCV002181034] |
Chr2:209967569 [GRCh38]
Chr2:210832293 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2627-9G>A |
single nucleotide variant |
not provided [RCV002141108] |
Chr2:209831434 [GRCh38]
Chr2:210696158 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8547G>A (p.Arg2849=) |
single nucleotide variant |
not provided [RCV002182778] |
Chr2:209973230 [GRCh38]
Chr2:210837954 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5994+7T>C |
single nucleotide variant |
not provided [RCV002097976] |
Chr2:209931061 [GRCh38]
Chr2:210795785 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.798+14A>G |
single nucleotide variant |
not provided [RCV002177273] |
Chr2:209789619 [GRCh38]
Chr2:210654343 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1336-18C>T |
single nucleotide variant |
not provided [RCV002139222] |
Chr2:209816891 [GRCh38]
Chr2:210681615 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3738C>T (p.Ile1246=) |
single nucleotide variant |
not provided [RCV002163275] |
Chr2:209872868 [GRCh38]
Chr2:210737592 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4038T>G (p.Leu1346=) |
single nucleotide variant |
not provided [RCV002117766] |
Chr2:209881022 [GRCh38]
Chr2:210745746 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9219T>G (p.Ser3073=) |
single nucleotide variant |
not provided [RCV002100064] |
Chr2:209982279 [GRCh38]
Chr2:210847003 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2775+18C>T |
single nucleotide variant |
not provided [RCV002141317] |
Chr2:209831609 [GRCh38]
Chr2:210696333 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9369G>A (p.Pro3123=) |
single nucleotide variant |
not provided [RCV002216835] |
Chr2:209992220 [GRCh38]
Chr2:210856944 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9257+11A>G |
single nucleotide variant |
not provided [RCV002121712] |
Chr2:209982328 [GRCh38]
Chr2:210847052 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9825C>T (p.Leu3275=) |
single nucleotide variant |
not provided [RCV002183175] |
Chr2:209995445 [GRCh38]
Chr2:210860169 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9903A>C (p.Leu3301=) |
single nucleotide variant |
not provided [RCV002143155] |
Chr2:209995523 [GRCh38]
Chr2:210860247 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9258-8T>A |
single nucleotide variant |
not provided [RCV002154396] |
Chr2:209984848 [GRCh38]
Chr2:210849572 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1953T>C (p.Leu651=) |
single nucleotide variant |
not provided [RCV002204085] |
Chr2:209819252 [GRCh38]
Chr2:210683976 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9142G>A (p.Val3048Met) |
single nucleotide variant |
UNC80-related condition [RCV003933367]|not provided [RCV002083894] |
Chr2:209982202 [GRCh38]
Chr2:210846926 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9234G>A (p.Glu3078=) |
single nucleotide variant |
not provided [RCV002154490] |
Chr2:209982294 [GRCh38]
Chr2:210847018 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9414A>G (p.Leu3138=) |
single nucleotide variant |
not provided [RCV002179683] |
Chr2:209993332 [GRCh38]
Chr2:210858056 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5806+20G>T |
single nucleotide variant |
not provided [RCV002156549] |
Chr2:209927006 [GRCh38]
Chr2:210791730 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8919G>A (p.Glu2973=) |
single nucleotide variant |
not provided [RCV002136129] |
Chr2:209977059 [GRCh38]
Chr2:210841783 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8103G>A (p.Arg2701=) |
single nucleotide variant |
not provided [RCV002154736] |
Chr2:209969864 [GRCh38]
Chr2:210834588 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1689G>A (p.Lys563=) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003138074]|not provided [RCV002219240] |
Chr2:209817948 [GRCh38]
Chr2:210682672 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.7134C>T (p.Thr2378=) |
single nucleotide variant |
not provided [RCV002143623] |
Chr2:209945134 [GRCh38]
Chr2:210809858 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.174G>T (p.Leu58=) |
single nucleotide variant |
not provided [RCV002118447] |
Chr2:209775921 [GRCh38]
Chr2:210640645 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6179-8A>G |
single nucleotide variant |
not provided [RCV002176185] |
Chr2:209935706 [GRCh38]
Chr2:210800430 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1755C>T (p.Asn585=) |
single nucleotide variant |
not provided [RCV002200582] |
Chr2:209819054 [GRCh38]
Chr2:210683778 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8298A>T (p.Pro2766=) |
single nucleotide variant |
not provided [RCV002204574] |
Chr2:209972242 [GRCh38]
Chr2:210836966 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8938+17G>A |
single nucleotide variant |
not provided [RCV002183755] |
Chr2:209977095 [GRCh38]
Chr2:210841819 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5806+20G>A |
single nucleotide variant |
not provided [RCV002120573] |
Chr2:209927006 [GRCh38]
Chr2:210791730 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8904A>G (p.Leu2968=) |
single nucleotide variant |
not provided [RCV002164287] |
Chr2:209977044 [GRCh38]
Chr2:210841768 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8257-9_8257-8delinsTA |
indel |
not provided [RCV002200855] |
Chr2:209972192..209972193 [GRCh38]
Chr2:210836916..210836917 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9569C>T (p.Thr3190Ile) |
single nucleotide variant |
not provided [RCV002122510] |
Chr2:209994125 [GRCh38]
Chr2:210858849 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5344-19T>A |
single nucleotide variant |
not provided [RCV002158957] |
Chr2:209921481 [GRCh38]
Chr2:210786205 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8314C>A (p.Arg2772=) |
single nucleotide variant |
not provided [RCV002164314] |
Chr2:209972258 [GRCh38]
Chr2:210836982 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6501G>A (p.Val2167=) |
single nucleotide variant |
not provided [RCV002136676] |
Chr2:209939507 [GRCh38]
Chr2:210804231 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1281T>G (p.Arg427=) |
single nucleotide variant |
not provided [RCV002082678] |
Chr2:209815337 [GRCh38]
Chr2:210680061 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3372T>A (p.Ser1124Arg) |
single nucleotide variant |
See cases [RCV002252427] |
Chr2:209842364 [GRCh38]
Chr2:210707088 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4763G>A (p.Arg1588Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003081101]|UNC80-related condition [RCV003933655]|not provided [RCV002176521] |
Chr2:209904946 [GRCh38]
Chr2:210769670 [GRCh37]
Chr2:2q34 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001371986.1(UNC80):c.8829C>T (p.Ala2943=) |
single nucleotide variant |
not provided [RCV002120835] |
Chr2:209976969 [GRCh38]
Chr2:210841693 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7806-17AT[8] |
microsatellite |
UNC80-related condition [RCV003903391]|not provided [RCV002122680] |
Chr2:209967419..209967420 [GRCh38]
Chr2:210832143..210832144 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.6471C>T (p.Phe2157=) |
single nucleotide variant |
not provided [RCV002202978] |
Chr2:209939477 [GRCh38]
Chr2:210804201 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.298+11C>G |
single nucleotide variant |
not provided [RCV002218060] |
Chr2:209776056 [GRCh38]
Chr2:210640780 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.1200+13C>T |
single nucleotide variant |
not provided [RCV002201370] |
Chr2:209813854 [GRCh38]
Chr2:210678578 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2235A>G (p.Gly745=) |
single nucleotide variant |
not provided [RCV002162576] |
Chr2:209820583 [GRCh38]
Chr2:210685307 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8587+16C>T |
single nucleotide variant |
not provided [RCV002082964] |
Chr2:209973286 [GRCh38]
Chr2:210838010 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.7263G>A (p.Ala2421=) |
single nucleotide variant |
not provided [RCV002157519] |
Chr2:209945920 [GRCh38]
Chr2:210810644 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.5730A>T (p.Pro1910=) |
single nucleotide variant |
not provided [RCV002137157] |
Chr2:209926910 [GRCh38]
Chr2:210791634 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9314+17A>G |
single nucleotide variant |
not provided [RCV002155789] |
Chr2:209984929 [GRCh38]
Chr2:210849653 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7314C>T (p.Ala2438=) |
single nucleotide variant |
not provided [RCV002160874] |
Chr2:209954127 [GRCh38]
Chr2:210818851 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2775+17T>A |
single nucleotide variant |
not provided [RCV002122694] |
Chr2:209831608 [GRCh38]
Chr2:210696332 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.4704C>A (p.Leu1568=) |
single nucleotide variant |
not provided [RCV002162974] |
Chr2:209904887 [GRCh38]
Chr2:210769611 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5688G>A (p.Thr1896=) |
single nucleotide variant |
not provided [RCV002101818] |
Chr2:209926868 [GRCh38]
Chr2:210791592 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8808T>G (p.Leu2936=) |
single nucleotide variant |
not provided [RCV002182629] |
Chr2:209976948 [GRCh38]
Chr2:210841672 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1464G>A (p.Thr488=) |
single nucleotide variant |
not provided [RCV002142830] |
Chr2:209817037 [GRCh38]
Chr2:210681761 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8205A>G (p.Pro2735=) |
single nucleotide variant |
not provided [RCV002161507] |
Chr2:209970906 [GRCh38]
Chr2:210835630 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1694-11C>A |
single nucleotide variant |
not provided [RCV002156481] |
Chr2:209818982 [GRCh38]
Chr2:210683706 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3105C>A (p.Ser1035=) |
single nucleotide variant |
not provided [RCV002158274] |
Chr2:209839285 [GRCh38]
Chr2:210704009 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.7161C>G (p.Val2387=) |
single nucleotide variant |
not provided [RCV002083803] |
Chr2:209945161 [GRCh38]
Chr2:210809885 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3168C>A (p.Ala1056=) |
single nucleotide variant |
not provided [RCV002121812] |
Chr2:209839348 [GRCh38]
Chr2:210704072 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.58C>T (p.Leu20=) |
single nucleotide variant |
not provided [RCV002203582] |
Chr2:209772130 [GRCh38]
Chr2:210636854 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.9258-15C>G |
single nucleotide variant |
not provided [RCV002200556] |
Chr2:209984841 [GRCh38]
Chr2:210849565 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7734G>A (p.Lys2578=) |
single nucleotide variant |
not provided [RCV002102598] |
Chr2:209959636 [GRCh38]
Chr2:210824360 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5217G>A (p.Pro1739=) |
single nucleotide variant |
not provided [RCV002198701] |
Chr2:209918537 [GRCh38]
Chr2:210783261 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5994+14G>C |
single nucleotide variant |
not provided [RCV002136450] |
Chr2:209931068 [GRCh38]
Chr2:210795792 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8523G>A (p.Gly2841=) |
single nucleotide variant |
not provided [RCV002181438] |
Chr2:209973206 [GRCh38]
Chr2:210837930 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5523A>G (p.Glu1841=) |
single nucleotide variant |
not provided [RCV002160196] |
Chr2:209921679 [GRCh38]
Chr2:210786403 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4056C>T (p.Thr1352=) |
single nucleotide variant |
not provided [RCV002181552] |
Chr2:209881040 [GRCh38]
Chr2:210745764 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2685T>C (p.Asn895=) |
single nucleotide variant |
not provided [RCV002118779] |
Chr2:209831501 [GRCh38]
Chr2:210696225 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5106G>A (p.Pro1702=) |
single nucleotide variant |
not provided [RCV002099206] |
Chr2:209917853 [GRCh38]
Chr2:210782577 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2229A>G (p.Glu743=) |
single nucleotide variant |
not provided [RCV002082590] |
Chr2:209820577 [GRCh38]
Chr2:210685301 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6363+17G>C |
single nucleotide variant |
not provided [RCV002202574] |
Chr2:209936950 [GRCh38]
Chr2:210801674 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8751G>A (p.Leu2917=) |
single nucleotide variant |
not provided [RCV002162293] |
Chr2:209976282 [GRCh38]
Chr2:210841006 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7190-17A>G |
single nucleotide variant |
not provided [RCV002201172] |
Chr2:209945830 [GRCh38]
Chr2:210810554 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5344-17C>G |
single nucleotide variant |
not provided [RCV002176636] |
Chr2:209921483 [GRCh38]
Chr2:210786207 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5076C>T (p.Ser1692=) |
single nucleotide variant |
not provided [RCV002099438] |
Chr2:209917823 [GRCh38]
Chr2:210782547 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7458-7G>A |
single nucleotide variant |
not provided [RCV002180686] |
Chr2:209957637 [GRCh38]
Chr2:210822361 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.601-17C>T |
single nucleotide variant |
not provided [RCV002159158] |
Chr2:209786049 [GRCh38]
Chr2:210650773 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9897G>A (p.Pro3299=) |
single nucleotide variant |
not provided [RCV002201498] |
Chr2:209995517 [GRCh38]
Chr2:210860241 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3366C>T (p.Phe1122=) |
single nucleotide variant |
not provided [RCV002197655] |
Chr2:209842358 [GRCh38]
Chr2:210707082 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6273+10A>C |
single nucleotide variant |
not provided [RCV002157911] |
Chr2:209935818 [GRCh38]
Chr2:210800542 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9118+12C>T |
single nucleotide variant |
not provided [RCV002216893] |
Chr2:209978720 [GRCh38]
Chr2:210843444 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4539C>T (p.Ala1513=) |
single nucleotide variant |
not provided [RCV002100272] |
Chr2:209896371 [GRCh38]
Chr2:210761095 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4890+7T>C |
single nucleotide variant |
UNC80-related condition [RCV003893111]|not provided [RCV002159527] |
Chr2:209912674 [GRCh38]
Chr2:210777398 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1003C>T (p.Leu335=) |
single nucleotide variant |
not provided [RCV002161870] |
Chr2:209813644 [GRCh38]
Chr2:210678368 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7434G>A (p.Leu2478=) |
single nucleotide variant |
not provided [RCV002117782] |
Chr2:209954247 [GRCh38]
Chr2:210818971 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.8939-12C>T |
single nucleotide variant |
not provided [RCV002203675] |
Chr2:209978517 [GRCh38]
Chr2:210843241 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5030-8G>C |
single nucleotide variant |
not provided [RCV002183412] |
Chr2:209917769 [GRCh38]
Chr2:210782493 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.831T>C (p.Ser277=) |
single nucleotide variant |
not provided [RCV002203840] |
Chr2:209793752 [GRCh38]
Chr2:210658476 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9397-4T>C |
single nucleotide variant |
not provided [RCV002177854] |
Chr2:209993311 [GRCh38]
Chr2:210858035 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.783T>C (p.Asp261=) |
single nucleotide variant |
not provided [RCV002103876] |
Chr2:209789590 [GRCh38]
Chr2:210654314 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6364-5C>T |
single nucleotide variant |
not provided [RCV002143449] |
Chr2:209937524 [GRCh38]
Chr2:210802248 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2331+9G>T |
single nucleotide variant |
not provided [RCV002081717] |
Chr2:209820688 [GRCh38]
Chr2:210685412 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6204A>G (p.Gly2068=) |
single nucleotide variant |
not provided [RCV002102333] |
Chr2:209935739 [GRCh38]
Chr2:210800463 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6646+19T>G |
single nucleotide variant |
not provided [RCV002139726] |
Chr2:209939671 [GRCh38]
Chr2:210804395 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9081G>A (p.Gln3027=) |
single nucleotide variant |
not provided [RCV002202219] |
Chr2:209978671 [GRCh38]
Chr2:210843395 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3162G>A (p.Thr1054=) |
single nucleotide variant |
not provided [RCV002156781] |
Chr2:209839342 [GRCh38]
Chr2:210704066 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8006+15G>A |
single nucleotide variant |
not provided [RCV002183701] |
Chr2:209967652 [GRCh38]
Chr2:210832376 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9504G>A (p.Pro3168=) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002505855]|not provided [RCV002181616] |
Chr2:209993422 [GRCh38]
Chr2:210858146 [GRCh37]
Chr2:2q34 |
benign|likely benign |
| NM_001371986.1(UNC80):c.5653A>T (p.Ser1885Cys) |
single nucleotide variant |
not provided [RCV002118566] |
Chr2:209922374 [GRCh38]
Chr2:210787098 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5235C>T (p.Phe1745=) |
single nucleotide variant |
not provided [RCV002184046] |
Chr2:209918555 [GRCh38]
Chr2:210783279 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6906C>A (p.Thr2302=) |
single nucleotide variant |
not provided [RCV002184071] |
Chr2:209941480 [GRCh38]
Chr2:210806204 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7704G>A (p.Glu2568=) |
single nucleotide variant |
not provided [RCV002098902] |
Chr2:209959606 [GRCh38]
Chr2:210824330 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9471C>T (p.Thr3157=) |
single nucleotide variant |
not provided [RCV002217757] |
Chr2:209993389 [GRCh38]
Chr2:210858113 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5662+18C>T |
single nucleotide variant |
not provided [RCV002123863] |
Chr2:209922401 [GRCh38]
Chr2:210787125 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7457+18A>C |
single nucleotide variant |
not provided [RCV002142007] |
Chr2:209954288 [GRCh38]
Chr2:210819012 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3535C>A (p.Arg1179=) |
single nucleotide variant |
not provided [RCV002204671] |
Chr2:209849531 [GRCh38]
Chr2:210714255 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7458-20G>A |
single nucleotide variant |
not provided [RCV002217866] |
Chr2:209957624 [GRCh38]
Chr2:210822348 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8256+15C>T |
single nucleotide variant |
not provided [RCV002202838] |
Chr2:209970972 [GRCh38]
Chr2:210835696 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7416G>A (p.Thr2472=) |
single nucleotide variant |
not provided [RCV002160937] |
Chr2:209954229 [GRCh38]
Chr2:210818953 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9297C>T (p.Ala3099=) |
single nucleotide variant |
not provided [RCV002199402] |
Chr2:209984895 [GRCh38]
Chr2:210849619 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6465+14T>C |
single nucleotide variant |
not provided [RCV002201281] |
Chr2:209937644 [GRCh38]
Chr2:210802368 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4481-14T>C |
single nucleotide variant |
not provided [RCV002202602] |
Chr2:209896299 [GRCh38]
Chr2:210761023 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6465+12C>T |
single nucleotide variant |
not provided [RCV002184498] |
Chr2:209937642 [GRCh38]
Chr2:210802366 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5577A>G (p.Pro1859=) |
single nucleotide variant |
not provided [RCV002182322] |
Chr2:209922298 [GRCh38]
Chr2:210787022 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8811C>T (p.Ser2937=) |
single nucleotide variant |
UNC80-related condition [RCV003911318]|not provided [RCV002083045] |
Chr2:209976951 [GRCh38]
Chr2:210841675 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3250+15_3250+16del |
deletion |
not provided [RCV002122389] |
Chr2:209839444..209839445 [GRCh38]
Chr2:210704168..210704169 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.207C>A (p.Ile69=) |
single nucleotide variant |
not provided [RCV002176833] |
Chr2:209775954 [GRCh38]
Chr2:210640678 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4891-12A>T |
single nucleotide variant |
not provided [RCV002138759] |
Chr2:209913790 [GRCh38]
Chr2:210778514 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5810G>C (p.Ser1937Thr) |
single nucleotide variant |
not provided [RCV003110539] |
Chr2:209929874 [GRCh38]
Chr2:210794598 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1825C>T (p.Pro609Ser) |
single nucleotide variant |
not provided [RCV003110232] |
Chr2:209819124 [GRCh38]
Chr2:210683848 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7561C>G (p.Gln2521Glu) |
single nucleotide variant |
not provided [RCV003112527] |
Chr2:209959129 [GRCh38]
Chr2:210823853 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5082G>A (p.Met1694Ile) |
single nucleotide variant |
not provided [RCV003115328] |
Chr2:209917829 [GRCh38]
Chr2:210782553 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3073C>T (p.Arg1025Trp) |
single nucleotide variant |
not provided [RCV003115455] |
Chr2:209839253 [GRCh38]
Chr2:210703977 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2004C>T (p.Ile668=) |
single nucleotide variant |
not provided [RCV003116074] |
Chr2:209820352 [GRCh38]
Chr2:210685076 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6216C>T (p.Cys2072=) |
single nucleotide variant |
not provided [RCV003114970] |
Chr2:209935751 [GRCh38]
Chr2:210800475 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9693C>T (p.Ser3231=) |
single nucleotide variant |
not provided [RCV003115670] |
Chr2:209994249 [GRCh38]
Chr2:210858973 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4206A>G (p.Glu1402=) |
single nucleotide variant |
not provided [RCV003121219] |
Chr2:209888190 [GRCh38]
Chr2:210752914 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4560C>T (p.His1520=) |
single nucleotide variant |
not provided [RCV003121220] |
Chr2:209896392 [GRCh38]
Chr2:210761116 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3875G>C (p.Gly1292Ala) |
single nucleotide variant |
not provided [RCV003118834] |
Chr2:209877988 [GRCh38]
Chr2:210742712 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NC_000002.11:g.(?_210636797)_(213403254_?)del |
deletion |
not provided [RCV003122874] |
Chr2:210636797..213403254 [GRCh37]
Chr2:2q34 |
pathogenic |
| NC_000002.11:g.(?_210737462)_(210737714_?)del |
deletion |
not provided [RCV003122875] |
Chr2:210737462..210737714 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NC_000002.11:g.(?_210737462)_(210745838_?)del |
deletion |
not provided [RCV003122876] |
Chr2:210737462..210745838 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8780C>T (p.Ala2927Val) |
single nucleotide variant |
not provided [RCV003121178] |
Chr2:209976920 [GRCh38]
Chr2:210841644 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3653C>T (p.Ala1218Val) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003148248] |
Chr2:209872783 [GRCh38]
Chr2:210737507 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6976C>T (p.Gln2326Ter) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002273328] |
Chr2:209943440 [GRCh38]
Chr2:210808164 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.9119-36A>G |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002245265] |
Chr2:209982143 [GRCh38]
Chr2:210846867 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.1217G>C (p.Cys406Ser) |
single nucleotide variant |
not provided [RCV003156544] |
Chr2:209815273 [GRCh38]
Chr2:210679997 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8772+1G>A |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002273297]|not provided [RCV003101549] |
Chr2:209976304 [GRCh38]
Chr2:210841028 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.6481C>A (p.Leu2161Met) |
single nucleotide variant |
not provided [RCV002273515] |
Chr2:209939487 [GRCh38]
Chr2:210804211 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1006C>T (p.Arg336Cys) |
single nucleotide variant |
not provided [RCV002273665] |
Chr2:209813647 [GRCh38]
Chr2:210678371 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7435del (p.Tyr2479fs) |
deletion |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002294556] |
Chr2:209954248 [GRCh38]
Chr2:210818972 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.8008C>T (p.Arg2670Ter) |
single nucleotide variant |
not provided [RCV002283273] |
Chr2:209969769 [GRCh38]
Chr2:210834493 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.9458C>T (p.Ala3153Val) |
single nucleotide variant |
not provided [RCV002297583] |
Chr2:209993376 [GRCh38]
Chr2:210858100 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6571G>C (p.Glu2191Gln) |
single nucleotide variant |
not provided [RCV002297578] |
Chr2:209939577 [GRCh38]
Chr2:210804301 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4156C>T (p.His1386Tyr) |
single nucleotide variant |
not provided [RCV002297273] |
Chr2:209888140 [GRCh38]
Chr2:210752864 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8513C>G (p.Ser2838Cys) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002471797] |
Chr2:209973196 [GRCh38]
Chr2:210837920 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5402A>G (p.Lys1801Arg) |
single nucleotide variant |
not provided [RCV002302389] |
Chr2:209921558 [GRCh38]
Chr2:210786282 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2332-19_2332-16del |
deletion |
not provided [RCV003012469] |
Chr2:209825888..209825891 [GRCh38]
Chr2:210690612..210690615 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6116T>G (p.Leu2039Arg) |
single nucleotide variant |
not provided [RCV002303973] |
Chr2:209933943 [GRCh38]
Chr2:210798667 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7334A>G (p.Gln2445Arg) |
single nucleotide variant |
not provided [RCV002304959] |
Chr2:209954147 [GRCh38]
Chr2:210818871 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8806C>A (p.Leu2936Ile) |
single nucleotide variant |
not provided [RCV002299136] |
Chr2:209976946 [GRCh38]
Chr2:210841670 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5518C>T (p.Pro1840Ser) |
single nucleotide variant |
not provided [RCV002296750] |
Chr2:209921674 [GRCh38]
Chr2:210786398 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1897G>C (p.Glu633Gln) |
single nucleotide variant |
not provided [RCV002295456] |
Chr2:209819196 [GRCh38]
Chr2:210683920 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8933G>C (p.Gly2978Ala) |
single nucleotide variant |
not provided [RCV002295633] |
Chr2:209977073 [GRCh38]
Chr2:210841797 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4742A>C (p.Asn1581Thr) |
single nucleotide variant |
not provided [RCV002301167] |
Chr2:209904925 [GRCh38]
Chr2:210769649 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7871G>T (p.Arg2624Leu) |
single nucleotide variant |
not provided [RCV002295617] |
Chr2:209967502 [GRCh38]
Chr2:210832226 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1778A>G (p.Asn593Ser) |
single nucleotide variant |
not provided [RCV002301072] |
Chr2:209819077 [GRCh38]
Chr2:210683801 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2957G>A (p.Ser986Asn) |
single nucleotide variant |
not provided [RCV002296265] |
Chr2:209834926 [GRCh38]
Chr2:210699650 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2692G>C (p.Gly898Arg) |
single nucleotide variant |
not provided [RCV002295515] |
Chr2:209831508 [GRCh38]
Chr2:210696232 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2000A>T (p.Asp667Val) |
single nucleotide variant |
not provided [RCV002303131] |
Chr2:209820348 [GRCh38]
Chr2:210685072 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5132T>G (p.Val1711Gly) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV002300685] |
Chr2:209917879 [GRCh38]
Chr2:210782603 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5501G>C (p.Cys1834Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002859599] |
Chr2:209921657 [GRCh38]
Chr2:210786381 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.93-8T>C |
single nucleotide variant |
not provided [RCV002838325] |
Chr2:209773086 [GRCh38]
Chr2:210637810 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9407C>T (p.Pro3136Leu) |
single nucleotide variant |
not provided [RCV002862849] |
Chr2:209993325 [GRCh38]
Chr2:210858049 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6530T>C (p.Ile2177Thr) |
single nucleotide variant |
not provided [RCV002839549] |
Chr2:209939536 [GRCh38]
Chr2:210804260 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7412C>T (p.Ala2471Val) |
single nucleotide variant |
not provided [RCV002730631] |
Chr2:209954225 [GRCh38]
Chr2:210818949 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7330C>T (p.Leu2444=) |
single nucleotide variant |
not provided [RCV003032791] |
Chr2:209954143 [GRCh38]
Chr2:210818867 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.847A>G (p.Lys283Glu) |
single nucleotide variant |
not provided [RCV002842275] |
Chr2:209793768 [GRCh38]
Chr2:210658492 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2017T>C (p.Cys673Arg) |
single nucleotide variant |
not provided [RCV002861561] |
Chr2:209820365 [GRCh38]
Chr2:210685089 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4212A>G (p.Ser1404=) |
single nucleotide variant |
not provided [RCV002615908] |
Chr2:209888196 [GRCh38]
Chr2:210752920 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9351C>G (p.Asn3117Lys) |
single nucleotide variant |
not provided [RCV003012236] |
Chr2:209992202 [GRCh38]
Chr2:210856926 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3014C>A (p.Ser1005Tyr) |
single nucleotide variant |
not provided [RCV002995383] |
Chr2:209834983 [GRCh38]
Chr2:210699707 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.725-5T>C |
single nucleotide variant |
not provided [RCV002726920] |
Chr2:209789527 [GRCh38]
Chr2:210654251 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2743A>G (p.Thr915Ala) |
single nucleotide variant |
not provided [RCV002727088] |
Chr2:209831559 [GRCh38]
Chr2:210696283 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6647-4A>G |
single nucleotide variant |
not provided [RCV002750907] |
Chr2:209941217 [GRCh38]
Chr2:210805941 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4715G>A (p.Ser1572Asn) |
single nucleotide variant |
not provided [RCV003013695] |
Chr2:209904898 [GRCh38]
Chr2:210769622 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8919G>C (p.Glu2973Asp) |
single nucleotide variant |
not provided [RCV002967830] |
Chr2:209977059 [GRCh38]
Chr2:210841783 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2632G>T (p.Ala878Ser) |
single nucleotide variant |
not provided [RCV002750943] |
Chr2:209831448 [GRCh38]
Chr2:210696172 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8588-10C>T |
single nucleotide variant |
not provided [RCV002903934] |
Chr2:209976109 [GRCh38]
Chr2:210840833 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7141T>G (p.Leu2381Val) |
single nucleotide variant |
not provided [RCV002971358] |
Chr2:209945141 [GRCh38]
Chr2:210809865 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3578A>G (p.Glu1193Gly) |
single nucleotide variant |
not provided [RCV003016098] |
Chr2:209849574 [GRCh38]
Chr2:210714298 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6594A>G (p.Ser2198=) |
single nucleotide variant |
not provided [RCV003014670] |
Chr2:209939600 [GRCh38]
Chr2:210804324 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1978G>C (p.Val660Leu) |
single nucleotide variant |
not provided [RCV002730514] |
Chr2:209820326 [GRCh38]
Chr2:210685050 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7627A>C (p.Arg2543=) |
single nucleotide variant |
not provided [RCV002686049] |
Chr2:209959529 [GRCh38]
Chr2:210824253 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.591C>G (p.His197Gln) |
single nucleotide variant |
not provided [RCV002815284] |
Chr2:209777550 [GRCh38]
Chr2:210642274 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7148T>G (p.Ile2383Ser) |
single nucleotide variant |
not provided [RCV002613518] |
Chr2:209945148 [GRCh38]
Chr2:210809872 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3840+11G>C |
single nucleotide variant |
not provided [RCV002771531] |
Chr2:209872981 [GRCh38]
Chr2:210737705 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3042-6C>G |
single nucleotide variant |
not provided [RCV003013512] |
Chr2:209839216 [GRCh38]
Chr2:210703940 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4243C>A (p.Leu1415Ile) |
single nucleotide variant |
not provided [RCV002751040] |
Chr2:209888227 [GRCh38]
Chr2:210752951 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8596G>A (p.Val2866Met) |
single nucleotide variant |
not provided [RCV002616883] |
Chr2:209976127 [GRCh38]
Chr2:210840851 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6148G>A (p.Val2050Met) |
single nucleotide variant |
not provided [RCV002904072] |
Chr2:209933975 [GRCh38]
Chr2:210798699 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5531-9G>A |
single nucleotide variant |
not provided [RCV002996897] |
Chr2:209922243 [GRCh38]
Chr2:210786967 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9765_9766dup (p.Ala3256fs) |
duplication |
not provided [RCV003013202] |
Chr2:209995383..209995384 [GRCh38]
Chr2:210860107..210860108 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6328A>G (p.Met2110Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002778021] |
Chr2:209936898 [GRCh38]
Chr2:210801622 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8388A>G (p.Pro2796=) |
single nucleotide variant |
not provided [RCV002780145] |
Chr2:209973071 [GRCh38]
Chr2:210837795 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7493A>C (p.Gln2498Pro) |
single nucleotide variant |
not provided [RCV002614622] |
Chr2:209957679 [GRCh38]
Chr2:210822403 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5085G>A (p.Leu1695=) |
single nucleotide variant |
not provided [RCV002863082] |
Chr2:209917832 [GRCh38]
Chr2:210782556 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4783-10G>A |
single nucleotide variant |
not provided [RCV002948190] |
Chr2:209912550 [GRCh38]
Chr2:210777274 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3535C>T (p.Arg1179Ter) |
single nucleotide variant |
not provided [RCV002636157] |
Chr2:209849531 [GRCh38]
Chr2:210714255 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.1201-7T>C |
single nucleotide variant |
not provided [RCV002881872] |
Chr2:209815250 [GRCh38]
Chr2:210679974 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4192C>T (p.Leu1398=) |
single nucleotide variant |
not provided [RCV003076083] |
Chr2:209888176 [GRCh38]
Chr2:210752900 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9188G>A (p.Arg3063Lys) |
single nucleotide variant |
not provided [RCV002756101] |
Chr2:209982248 [GRCh38]
Chr2:210846972 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3072G>A (p.Gly1024=) |
single nucleotide variant |
not provided [RCV002843254] |
Chr2:209839252 [GRCh38]
Chr2:210703976 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4691C>A (p.Ala1564Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002865895] |
Chr2:209904874 [GRCh38]
Chr2:210769598 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6369T>C (p.Tyr2123=) |
single nucleotide variant |
not provided [RCV002866139] |
Chr2:209937534 [GRCh38]
Chr2:210802258 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6466-10T>G |
single nucleotide variant |
not provided [RCV003035200] |
Chr2:209939462 [GRCh38]
Chr2:210804186 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5994+18A>G |
single nucleotide variant |
not provided [RCV002750450] |
Chr2:209931072 [GRCh38]
Chr2:210795796 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9019T>C (p.Ser3007Pro) |
single nucleotide variant |
not provided [RCV003015965] |
Chr2:209978609 [GRCh38]
Chr2:210843333 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9724A>G (p.Thr3242Ala) |
single nucleotide variant |
not provided [RCV003017063] |
Chr2:209995344 [GRCh38]
Chr2:210860068 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2322C>A (p.Asn774Lys) |
single nucleotide variant |
not provided [RCV002975509] |
Chr2:209820670 [GRCh38]
Chr2:210685394 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9637A>G (p.Met3213Val) |
single nucleotide variant |
not provided [RCV002794887] |
Chr2:209994193 [GRCh38]
Chr2:210858917 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5806+15A>G |
single nucleotide variant |
not provided [RCV002618721] |
Chr2:209927001 [GRCh38]
Chr2:210791725 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.492C>G (p.Ser164Arg) |
single nucleotide variant |
not provided [RCV002842163] |
Chr2:209777451 [GRCh38]
Chr2:210642175 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8625C>G (p.Leu2875=) |
single nucleotide variant |
not provided [RCV002730474] |
Chr2:209976156 [GRCh38]
Chr2:210840880 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2518A>T (p.Met840Leu) |
single nucleotide variant |
not provided [RCV003016795] |
Chr2:209829271 [GRCh38]
Chr2:210693995 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4532G>A (p.Ser1511Asn) |
single nucleotide variant |
not provided [RCV002842628] |
Chr2:209896364 [GRCh38]
Chr2:210761088 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.925C>T (p.Pro309Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003017137]|not provided [RCV003026251] |
Chr2:209793846 [GRCh38]
Chr2:210658570 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5594C>G (p.Thr1865Ser) |
single nucleotide variant |
not provided [RCV003013703] |
Chr2:209922315 [GRCh38]
Chr2:210787039 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3G>A (p.Met1Ile) |
single nucleotide variant |
not provided [RCV002880284] |
Chr2:209772075 [GRCh38]
Chr2:210636799 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6036G>A (p.Trp2012Ter) |
single nucleotide variant |
not provided [RCV002881412] |
Chr2:209933863 [GRCh38]
Chr2:210798587 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.5212-5A>G |
single nucleotide variant |
not provided [RCV002681655] |
Chr2:209918527 [GRCh38]
Chr2:210783251 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5662+19G>C |
single nucleotide variant |
not provided [RCV002881777] |
Chr2:209922402 [GRCh38]
Chr2:210787126 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9658T>C (p.Ser3220Pro) |
single nucleotide variant |
not provided [RCV002685987] |
Chr2:209994214 [GRCh38]
Chr2:210858938 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.425G>A (p.Gly142Asp) |
single nucleotide variant |
not provided [RCV002904720] |
Chr2:209777384 [GRCh38]
Chr2:210642108 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7754G>A (p.Gly2585Glu) |
single nucleotide variant |
not provided [RCV003016248] |
Chr2:209959656 [GRCh38]
Chr2:210824380 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.753A>G (p.Gln251=) |
single nucleotide variant |
not provided [RCV002751539] |
Chr2:209789560 [GRCh38]
Chr2:210654284 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.962G>T (p.Cys321Phe) |
single nucleotide variant |
not provided [RCV002995644] |
Chr2:209813603 [GRCh38]
Chr2:210678327 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7707C>G (p.Phe2569Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002905260] |
Chr2:209959609 [GRCh38]
Chr2:210824333 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2790C>T (p.Asp930=) |
single nucleotide variant |
not provided [RCV002881608] |
Chr2:209834016 [GRCh38]
Chr2:210698740 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1346G>A (p.Arg449His) |
single nucleotide variant |
Inborn genetic diseases [RCV002727756] |
Chr2:209816919 [GRCh38]
Chr2:210681643 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3313A>G (p.Ile1105Val) |
single nucleotide variant |
not provided [RCV003014995] |
Chr2:209840604 [GRCh38]
Chr2:210705328 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9461G>A (p.Arg3154Gln) |
single nucleotide variant |
not provided [RCV002775926] |
Chr2:209993379 [GRCh38]
Chr2:210858103 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2958C>A (p.Ser986Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002906630] |
Chr2:209834927 [GRCh38]
Chr2:210699651 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8587+11TC[7] |
microsatellite |
not provided [RCV002770956] |
Chr2:209973281..209973282 [GRCh38]
Chr2:210838005..210838006 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7797T>G (p.Ser2599=) |
single nucleotide variant |
not provided [RCV002880290] |
Chr2:209959699 [GRCh38]
Chr2:210824423 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1889G>A (p.Ser630Asn) |
single nucleotide variant |
not provided [RCV002731270] |
Chr2:209819188 [GRCh38]
Chr2:210683912 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4111-18T>G |
single nucleotide variant |
not provided [RCV002750405] |
Chr2:209888077 [GRCh38]
Chr2:210752801 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5976C>T (p.His1992=) |
single nucleotide variant |
not provided [RCV002776285] |
Chr2:209931036 [GRCh38]
Chr2:210795760 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8435A>G (p.Asn2812Ser) |
single nucleotide variant |
not provided [RCV002816570] |
Chr2:209973118 [GRCh38]
Chr2:210837842 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7390A>C (p.Ile2464Leu) |
single nucleotide variant |
not provided [RCV002816498] |
Chr2:209954203 [GRCh38]
Chr2:210818927 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3690C>T (p.Cys1230=) |
single nucleotide variant |
not provided [RCV002750629] |
Chr2:209872820 [GRCh38]
Chr2:210737544 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3002G>A (p.Arg1001His) |
single nucleotide variant |
not provided [RCV002904668] |
Chr2:209834971 [GRCh38]
Chr2:210699695 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9652C>T (p.Leu3218Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002752365] |
Chr2:209994208 [GRCh38]
Chr2:210858932 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7614G>A (p.Gly2538=) |
single nucleotide variant |
not provided [RCV002838255] |
Chr2:209959516 [GRCh38]
Chr2:210824240 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3840+6C>T |
single nucleotide variant |
not provided [RCV002947882] |
Chr2:209872976 [GRCh38]
Chr2:210737700 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6466-16C>T |
single nucleotide variant |
not provided [RCV002862520] |
Chr2:209939456 [GRCh38]
Chr2:210804180 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1513C>A (p.Arg505=) |
single nucleotide variant |
not provided [RCV002863243] |
Chr2:209817086 [GRCh38]
Chr2:210681810 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2211T>C (p.Ala737=) |
single nucleotide variant |
not provided [RCV003017072] |
Chr2:209820559 [GRCh38]
Chr2:210685283 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5211+8A>C |
single nucleotide variant |
not provided [RCV002908809] |
Chr2:209917966 [GRCh38]
Chr2:210782690 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4758T>C (p.Ala1586=) |
single nucleotide variant |
not provided [RCV002754941] |
Chr2:209904941 [GRCh38]
Chr2:210769665 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9118+4G>A |
single nucleotide variant |
not provided [RCV002618136] |
Chr2:209978712 [GRCh38]
Chr2:210843436 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1649T>C (p.Leu550Pro) |
single nucleotide variant |
not provided [RCV002904798] |
Chr2:209817908 [GRCh38]
Chr2:210682632 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6314C>A (p.Thr2105Lys) |
single nucleotide variant |
not provided [RCV002730452] |
Chr2:209936884 [GRCh38]
Chr2:210801608 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8861C>G (p.Pro2954Arg) |
single nucleotide variant |
not provided [RCV002613662] |
Chr2:209977001 [GRCh38]
Chr2:210841725 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7418C>A (p.Ser2473Tyr) |
single nucleotide variant |
not provided [RCV003013133] |
Chr2:209954231 [GRCh38]
Chr2:210818955 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6295A>G (p.Ile2099Val) |
single nucleotide variant |
not provided [RCV003032317] |
Chr2:209936865 [GRCh38]
Chr2:210801589 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1243T>C (p.Ser415Pro) |
single nucleotide variant |
not provided [RCV002756278] |
Chr2:209815299 [GRCh38]
Chr2:210680023 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6274-10A>G |
single nucleotide variant |
not provided [RCV002862265] |
Chr2:209936834 [GRCh38]
Chr2:210801558 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1733A>G (p.Asn578Ser) |
single nucleotide variant |
not provided [RCV002838404] |
Chr2:209819032 [GRCh38]
Chr2:210683756 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5806+20G>C |
single nucleotide variant |
not provided [RCV003033094] |
Chr2:209927006 [GRCh38]
Chr2:210791730 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6274-13G>C |
single nucleotide variant |
not provided [RCV002617473] |
Chr2:209936831 [GRCh38]
Chr2:210801555 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5249C>A (p.Pro1750Gln) |
single nucleotide variant |
not provided [RCV002842930] |
Chr2:209918569 [GRCh38]
Chr2:210783293 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3184T>A (p.Ser1062Thr) |
single nucleotide variant |
not provided [RCV002974883] |
Chr2:209839364 [GRCh38]
Chr2:210704088 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4154G>A (p.Arg1385Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002883049] |
Chr2:209888138 [GRCh38]
Chr2:210752862 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2934C>G (p.Gly978=) |
single nucleotide variant |
not provided [RCV002880538] |
Chr2:209834160 [GRCh38]
Chr2:210698884 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2115G>A (p.Glu705=) |
single nucleotide variant |
not provided [RCV002975081] |
Chr2:209820463 [GRCh38]
Chr2:210685187 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4160G>C (p.Arg1387Thr) |
single nucleotide variant |
not provided [RCV003012196] |
Chr2:209888144 [GRCh38]
Chr2:210752868 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3396G>A (p.Gly1132=) |
single nucleotide variant |
not provided [RCV002771620] |
Chr2:209842388 [GRCh38]
Chr2:210707112 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9584C>T (p.Ala3195Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002708267] |
Chr2:209994140 [GRCh38]
Chr2:210858864 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1090G>A (p.Glu364Lys) |
single nucleotide variant |
not provided [RCV002572118] |
Chr2:209813731 [GRCh38]
Chr2:210678455 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9118+4G>T |
single nucleotide variant |
not provided [RCV002706462] |
Chr2:209978712 [GRCh38]
Chr2:210843436 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6578TCC[1] (p.Leu2194del) |
microsatellite |
not provided [RCV002871170] |
Chr2:209939582..209939584 [GRCh38]
Chr2:210804306..210804308 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4779A>C (p.Lys1593Asn) |
single nucleotide variant |
not provided [RCV003002960] |
Chr2:209904962 [GRCh38]
Chr2:210769686 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7168G>A (p.Glu2390Lys) |
single nucleotide variant |
not provided [RCV002820516] |
Chr2:209945168 [GRCh38]
Chr2:210809892 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8120G>T (p.Cys2707Phe) |
single nucleotide variant |
not provided [RCV002706417] |
Chr2:209969881 [GRCh38]
Chr2:210834605 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2690A>G (p.Glu897Gly) |
single nucleotide variant |
not provided [RCV002639386] |
Chr2:209831506 [GRCh38]
Chr2:210696230 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5907+18T>G |
single nucleotide variant |
not provided [RCV002639941] |
Chr2:209929989 [GRCh38]
Chr2:210794713 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1694-5A>G |
single nucleotide variant |
not provided [RCV002663142] |
Chr2:209818988 [GRCh38]
Chr2:210683712 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1997A>G (p.His666Arg) |
single nucleotide variant |
not provided [RCV003003259] |
Chr2:209820345 [GRCh38]
Chr2:210685069 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.137G>C (p.Cys46Ser) |
single nucleotide variant |
not provided [RCV002825586] |
Chr2:209773138 [GRCh38]
Chr2:210637862 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8676G>C (p.Arg2892=) |
single nucleotide variant |
not provided [RCV002825429] |
Chr2:209976207 [GRCh38]
Chr2:210840931 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4276+17G>T |
single nucleotide variant |
not provided [RCV002695725] |
Chr2:209888277 [GRCh38]
Chr2:210753001 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4127G>T (p.Arg1376Ile) |
single nucleotide variant |
not provided [RCV002927892] |
Chr2:209888111 [GRCh38]
Chr2:210752835 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1857T>G (p.Pro619=) |
single nucleotide variant |
not provided [RCV002569984] |
Chr2:209819156 [GRCh38]
Chr2:210683880 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.504C>T (p.Asp168=) |
single nucleotide variant |
not provided [RCV002662978] |
Chr2:209777463 [GRCh38]
Chr2:210642187 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2232_2246del (p.Glu744_Gly748del) |
deletion |
not provided [RCV003039140] |
Chr2:209820577..209820591 [GRCh38]
Chr2:210685301..210685315 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2574A>C (p.Val858=) |
single nucleotide variant |
not provided [RCV002889722] |
Chr2:209829327 [GRCh38]
Chr2:210694051 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7935G>A (p.Arg2645=) |
single nucleotide variant |
not provided [RCV003002166] |
Chr2:209967566 [GRCh38]
Chr2:210832290 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.4111G>T (p.Asp1371Tyr) |
single nucleotide variant |
not provided [RCV003055602] |
Chr2:209888095 [GRCh38]
Chr2:210752819 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.939-1G>A |
single nucleotide variant |
not provided [RCV002889534] |
Chr2:209813579 [GRCh38]
Chr2:210678303 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.884T>C (p.Phe295Ser) |
single nucleotide variant |
not provided [RCV002953471] |
Chr2:209793805 [GRCh38]
Chr2:210658529 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3258G>T (p.Trp1086Cys) |
single nucleotide variant |
not provided [RCV003035977] |
Chr2:209840549 [GRCh38]
Chr2:210705273 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4782+12A>T |
single nucleotide variant |
not provided [RCV003002777] |
Chr2:209904977 [GRCh38]
Chr2:210769701 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6316C>T (p.His2106Tyr) |
single nucleotide variant |
not provided [RCV002825182] |
Chr2:209936886 [GRCh38]
Chr2:210801610 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.938+2T>C |
single nucleotide variant |
not provided [RCV003017789] |
Chr2:209793861 [GRCh38]
Chr2:210658585 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.1330A>G (p.Lys444Glu) |
single nucleotide variant |
not provided [RCV003002862] |
Chr2:209815386 [GRCh38]
Chr2:210680110 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.544A>G (p.Met182Val) |
single nucleotide variant |
not provided [RCV003055456] |
Chr2:209777503 [GRCh38]
Chr2:210642227 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9577C>T (p.Leu3193Phe) |
single nucleotide variant |
not provided [RCV003022048] |
Chr2:209994133 [GRCh38]
Chr2:210858857 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9509-4G>C |
single nucleotide variant |
Inborn genetic diseases [RCV002708119]|not provided [RCV003565578] |
Chr2:209994061 [GRCh38]
Chr2:210858785 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.444C>A (p.Phe148Leu) |
single nucleotide variant |
not provided [RCV002824238] |
Chr2:209777403 [GRCh38]
Chr2:210642127 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2331+10_2331+26del |
deletion |
not provided [RCV002926757] |
Chr2:209820689..209820705 [GRCh38]
Chr2:210685413..210685429 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9404G>A (p.Arg3135His) |
single nucleotide variant |
not provided [RCV002593058] |
Chr2:209993322 [GRCh38]
Chr2:210858046 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3840+19T>C |
single nucleotide variant |
not provided [RCV002622840] |
Chr2:209872989 [GRCh38]
Chr2:210737713 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3227G>T (p.Arg1076Leu) |
single nucleotide variant |
not provided [RCV002662762] |
Chr2:209839407 [GRCh38]
Chr2:210704131 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.501T>A (p.Asn167Lys) |
single nucleotide variant |
not provided [RCV002846241] |
Chr2:209777460 [GRCh38]
Chr2:210642184 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1141C>T (p.Pro381Ser) |
single nucleotide variant |
not provided [RCV003039540] |
Chr2:209813782 [GRCh38]
Chr2:210678506 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8416C>T (p.Leu2806=) |
single nucleotide variant |
not provided [RCV002662415] |
Chr2:209973099 [GRCh38]
Chr2:210837823 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1152C>T (p.Ser384=) |
single nucleotide variant |
not provided [RCV002638734] |
Chr2:209813793 [GRCh38]
Chr2:210678517 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2243_2266del (p.Gly748_Gly755del) |
deletion |
Inborn genetic diseases [RCV002798456] |
Chr2:209820581..209820604 [GRCh38]
Chr2:210685305..210685328 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1085T>C (p.Met362Thr) |
single nucleotide variant |
not provided [RCV002914247] |
Chr2:209813726 [GRCh38]
Chr2:210678450 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6870C>A (p.Leu2290=) |
single nucleotide variant |
not provided [RCV002659157] |
Chr2:209941444 [GRCh38]
Chr2:210806168 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7251C>T (p.Val2417=) |
single nucleotide variant |
not provided [RCV002847096] |
Chr2:209945908 [GRCh38]
Chr2:210810632 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9816C>T (p.Phe3272=) |
single nucleotide variant |
not provided [RCV002795273] |
Chr2:209995436 [GRCh38]
Chr2:210860160 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2027C>G (p.Ala676Gly) |
single nucleotide variant |
not provided [RCV002823734] |
Chr2:209820375 [GRCh38]
Chr2:210685099 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8753G>A (p.Arg2918His) |
single nucleotide variant |
not provided [RCV002735254] |
Chr2:209976284 [GRCh38]
Chr2:210841008 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9078G>T (p.Ser3026=) |
single nucleotide variant |
not provided [RCV003019949] |
Chr2:209978668 [GRCh38]
Chr2:210843392 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.996T>C (p.Val332=) |
single nucleotide variant |
not provided [RCV002691103] |
Chr2:209813637 [GRCh38]
Chr2:210678361 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3221C>T (p.Ser1074Phe) |
single nucleotide variant |
not provided [RCV002846523] |
Chr2:209839401 [GRCh38]
Chr2:210704125 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8934A>T (p.Gly2978=) |
single nucleotide variant |
not provided [RCV002569671] |
Chr2:209977074 [GRCh38]
Chr2:210841798 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2513A>T (p.Asp838Val) |
single nucleotide variant |
not provided [RCV002909765] |
Chr2:209829266 [GRCh38]
Chr2:210693990 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5642G>A (p.Arg1881His) |
single nucleotide variant |
Inborn genetic diseases [RCV002790308]|not provided [RCV002781160] |
Chr2:209922363 [GRCh38]
Chr2:210787087 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7550+9C>T |
single nucleotide variant |
not provided [RCV002824032] |
Chr2:209957745 [GRCh38]
Chr2:210822469 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9710G>A (p.Ser3237Asn) |
single nucleotide variant |
not provided [RCV002691141] |
Chr2:209995330 [GRCh38]
Chr2:210860054 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6849C>T (p.Thr2283=) |
single nucleotide variant |
not provided [RCV002621586] |
Chr2:209941423 [GRCh38]
Chr2:210806147 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1007G>A (p.Arg336His) |
single nucleotide variant |
not provided [RCV002619592] |
Chr2:209813648 [GRCh38]
Chr2:210678372 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2374A>G (p.Met792Val) |
single nucleotide variant |
not provided [RCV002846328] |
Chr2:209825949 [GRCh38]
Chr2:210690673 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4852A>G (p.Lys1618Glu) |
single nucleotide variant |
not provided [RCV003019846] |
Chr2:209912629 [GRCh38]
Chr2:210777353 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7636C>T (p.Leu2546=) |
single nucleotide variant |
not provided [RCV002694873] |
Chr2:209959538 [GRCh38]
Chr2:210824262 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9241A>C (p.Met3081Leu) |
single nucleotide variant |
not provided [RCV002820485] |
Chr2:209982301 [GRCh38]
Chr2:210847025 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2619C>A (p.Val873=) |
single nucleotide variant |
not provided [RCV003019065] |
Chr2:209829372 [GRCh38]
Chr2:210694096 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.336C>T (p.Leu112=) |
single nucleotide variant |
not provided [RCV002796688] |
Chr2:209777295 [GRCh38]
Chr2:210642019 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2764C>T (p.Pro922Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003289552]|not provided [RCV002621348] |
Chr2:209831580 [GRCh38]
Chr2:210696304 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2523G>T (p.Gln841His) |
single nucleotide variant |
not provided [RCV002591526] |
Chr2:209829276 [GRCh38]
Chr2:210694000 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3807G>C (p.Trp1269Cys) |
single nucleotide variant |
not provided [RCV002705209] |
Chr2:209872937 [GRCh38]
Chr2:210737661 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8845C>T (p.Arg2949Cys) |
single nucleotide variant |
not provided [RCV002659097] |
Chr2:209976985 [GRCh38]
Chr2:210841709 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3357+8G>C |
single nucleotide variant |
not provided [RCV002659514] |
Chr2:209840656 [GRCh38]
Chr2:210705380 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3455-18A>G |
single nucleotide variant |
not provided [RCV003035306] |
Chr2:209849433 [GRCh38]
Chr2:210714157 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5388A>G (p.Ala1796=) |
single nucleotide variant |
not provided [RCV002999021] |
Chr2:209921544 [GRCh38]
Chr2:210786268 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6961G>A (p.Glu2321Lys) |
single nucleotide variant |
not provided [RCV002949702] |
Chr2:209943425 [GRCh38]
Chr2:210808149 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1208C>T (p.Thr403Ile) |
single nucleotide variant |
not provided [RCV002923484] |
Chr2:209815264 [GRCh38]
Chr2:210679988 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5752C>T (p.Leu1918Phe) |
single nucleotide variant |
not provided [RCV002735016] |
Chr2:209926932 [GRCh38]
Chr2:210791656 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1433T>C (p.Leu478Pro) |
single nucleotide variant |
not provided [RCV002820963] |
Chr2:209817006 [GRCh38]
Chr2:210681730 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9318G>A (p.Val3106=) |
single nucleotide variant |
not provided [RCV002590680] |
Chr2:209992169 [GRCh38]
Chr2:210856893 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1569A>T (p.Arg523=) |
single nucleotide variant |
not provided [RCV003035736] |
Chr2:209817828 [GRCh38]
Chr2:210682552 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2839A>G (p.Arg947Gly) |
single nucleotide variant |
not provided [RCV002795963] |
Chr2:209834065 [GRCh38]
Chr2:210698789 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4658A>T (p.His1553Leu) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003138324]|not provided [RCV002658604] |
Chr2:209904841 [GRCh38]
Chr2:210769565 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.131C>T (p.Ala44Val) |
single nucleotide variant |
not provided [RCV003036129] |
Chr2:209773132 [GRCh38]
Chr2:210637856 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.798+17C>A |
single nucleotide variant |
not provided [RCV002706782] |
Chr2:209789622 [GRCh38]
Chr2:210654346 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9508+7C>T |
single nucleotide variant |
not provided [RCV002820683] |
Chr2:209993433 [GRCh38]
Chr2:210858157 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2971G>A (p.Gly991Ser) |
single nucleotide variant |
not provided [RCV002639144] |
Chr2:209834940 [GRCh38]
Chr2:210699664 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9273C>T (p.Leu3091=) |
single nucleotide variant |
not provided [RCV002639884] |
Chr2:209984871 [GRCh38]
Chr2:210849595 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5077G>A (p.Asp1693Asn) |
single nucleotide variant |
not provided [RCV003035469] |
Chr2:209917824 [GRCh38]
Chr2:210782548 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7050+16G>A |
single nucleotide variant |
not provided [RCV002846962] |
Chr2:209943530 [GRCh38]
Chr2:210808254 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.71C>A (p.Thr24Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002869724] |
Chr2:209772143 [GRCh38]
Chr2:210636867 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8323G>T (p.Gly2775Trp) |
single nucleotide variant |
not provided [RCV002760884] |
Chr2:209972267 [GRCh38]
Chr2:210836991 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.422G>A (p.Trp141Ter) |
single nucleotide variant |
UNC80-related condition [RCV003409904]|not provided [RCV002695250] |
Chr2:209777381 [GRCh38]
Chr2:210642105 [GRCh37]
Chr2:2q34 |
pathogenic|likely pathogenic |
| NM_001371986.1(UNC80):c.5288C>T (p.Pro1763Leu) |
single nucleotide variant |
not provided [RCV003077366] |
Chr2:209918608 [GRCh38]
Chr2:210783332 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7229G>C (p.Ser2410Thr) |
single nucleotide variant |
not provided [RCV002796610] |
Chr2:209945886 [GRCh38]
Chr2:210810610 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8865G>T (p.Leu2955Phe) |
single nucleotide variant |
not provided [RCV002824128] |
Chr2:209977005 [GRCh38]
Chr2:210841729 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7587G>A (p.Arg2529=) |
single nucleotide variant |
not provided [RCV002592744] |
Chr2:209959489 [GRCh38]
Chr2:210824213 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8234G>A (p.Arg2745Gln) |
single nucleotide variant |
not provided [RCV002622736] |
Chr2:209970935 [GRCh38]
Chr2:210835659 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5151C>G (p.Leu1717=) |
single nucleotide variant |
not provided [RCV003002791] |
Chr2:209917898 [GRCh38]
Chr2:210782622 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6364-6A>C |
single nucleotide variant |
not provided [RCV002781423] |
Chr2:209937523 [GRCh38]
Chr2:210802247 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8233C>T (p.Arg2745Trp) |
single nucleotide variant |
not provided [RCV002621171] |
Chr2:209970934 [GRCh38]
Chr2:210835658 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2036T>C (p.Ile679Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002798050] |
Chr2:209820384 [GRCh38]
Chr2:210685108 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6947T>A (p.Leu2316Gln) |
single nucleotide variant |
not provided [RCV002796646] |
Chr2:209943411 [GRCh38]
Chr2:210808135 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1059G>A (p.Met353Ile) |
single nucleotide variant |
not provided [RCV002927043] |
Chr2:209813700 [GRCh38]
Chr2:210678424 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4566del (p.Asn1522fs) |
deletion |
not provided [RCV002621869] |
Chr2:209896398 [GRCh38]
Chr2:210761122 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.2434G>A (p.Gly812Arg) |
single nucleotide variant |
not provided [RCV003021427] |
Chr2:209826009 [GRCh38]
Chr2:210690733 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8360C>T (p.Thr2787Ile) |
single nucleotide variant |
not provided [RCV003019796] |
Chr2:209972304 [GRCh38]
Chr2:210837028 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3686G>A (p.Arg1229His) |
single nucleotide variant |
not provided [RCV002760971] |
Chr2:209872816 [GRCh38]
Chr2:210737540 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2443G>A (p.Gly815Arg) |
single nucleotide variant |
not provided [RCV002952576] |
Chr2:209826018 [GRCh38]
Chr2:210690742 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9742G>A (p.Glu3248Lys) |
single nucleotide variant |
not provided [RCV002846598] |
Chr2:209995362 [GRCh38]
Chr2:210860086 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1180G>C (p.Val394Leu) |
single nucleotide variant |
not provided [RCV002735940] |
Chr2:209813821 [GRCh38]
Chr2:210678545 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6274-17T>G |
single nucleotide variant |
not provided [RCV002590599] |
Chr2:209936827 [GRCh38]
Chr2:210801551 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3175G>A (p.Gly1059Arg) |
single nucleotide variant |
not provided [RCV003020484] |
Chr2:209839355 [GRCh38]
Chr2:210704079 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6473C>A (p.Thr2158Asn) |
single nucleotide variant |
not provided [RCV003020736] |
Chr2:209939479 [GRCh38]
Chr2:210804203 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5789G>A (p.Arg1930Gln) |
single nucleotide variant |
not provided [RCV003002068] |
Chr2:209926969 [GRCh38]
Chr2:210791693 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2943-14C>T |
single nucleotide variant |
not provided [RCV002690967] |
Chr2:209834898 [GRCh38]
Chr2:210699622 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1767A>G (p.Ala589=) |
single nucleotide variant |
not provided [RCV002886602] |
Chr2:209819066 [GRCh38]
Chr2:210683790 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5208T>A (p.Phe1736Leu) |
single nucleotide variant |
not provided [RCV003018551] |
Chr2:209917955 [GRCh38]
Chr2:210782679 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7186T>C (p.Leu2396=) |
single nucleotide variant |
not provided [RCV002662378] |
Chr2:209945186 [GRCh38]
Chr2:210809910 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3043G>A (p.Asp1015Asn) |
single nucleotide variant |
not provided [RCV002619026] |
Chr2:209839223 [GRCh38]
Chr2:210703947 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1817del (p.Pro606fs) |
deletion |
not provided [RCV003035724] |
Chr2:209819114 [GRCh38]
Chr2:210683838 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.8486T>C (p.Met2829Thr) |
single nucleotide variant |
not provided [RCV003018868] |
Chr2:209973169 [GRCh38]
Chr2:210837893 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1079G>A (p.Arg360Gln) |
single nucleotide variant |
not provided [RCV002639296] |
Chr2:209813720 [GRCh38]
Chr2:210678444 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1116G>A (p.Glu372=) |
single nucleotide variant |
not provided [RCV002824616] |
Chr2:209813757 [GRCh38]
Chr2:210678481 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3891A>G (p.Pro1297=) |
single nucleotide variant |
not provided [RCV002824617] |
Chr2:209878004 [GRCh38]
Chr2:210742728 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5913del (p.Glu1971fs) |
deletion |
not provided [RCV003038835] |
Chr2:209930973 [GRCh38]
Chr2:210795697 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.7761T>G (p.Pro2587=) |
single nucleotide variant |
not provided [RCV002639092] |
Chr2:209959663 [GRCh38]
Chr2:210824387 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6374G>A (p.Arg2125Gln) |
single nucleotide variant |
not provided [RCV002761424] |
Chr2:209937539 [GRCh38]
Chr2:210802263 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7206C>T (p.Asn2402=) |
single nucleotide variant |
not provided [RCV002871111] |
Chr2:209945863 [GRCh38]
Chr2:210810587 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4239C>G (p.His1413Gln) |
single nucleotide variant |
not provided [RCV002796092] |
Chr2:209888223 [GRCh38]
Chr2:210752947 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2432G>A (p.Arg811Gln) |
single nucleotide variant |
not provided [RCV002690854] |
Chr2:209826007 [GRCh38]
Chr2:210690731 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8900A>G (p.Glu2967Gly) |
single nucleotide variant |
not provided [RCV002824494] |
Chr2:209977040 [GRCh38]
Chr2:210841764 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1442A>G (p.Asp481Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002888857] |
Chr2:209817015 [GRCh38]
Chr2:210681739 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2071T>C (p.Cys691Arg) |
single nucleotide variant |
not provided [RCV003002538] |
Chr2:209820419 [GRCh38]
Chr2:210685143 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5029+16C>G |
single nucleotide variant |
not provided [RCV002820551] |
Chr2:209913956 [GRCh38]
Chr2:210778680 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2246_2260del (p.Asp749_Gly753del) |
deletion |
not provided [RCV002999903] |
Chr2:209820581..209820595 [GRCh38]
Chr2:210685305..210685319 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6127A>T (p.Met2043Leu) |
single nucleotide variant |
not provided [RCV003036721] |
Chr2:209933954 [GRCh38]
Chr2:210798678 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4050T>C (p.Ile1350=) |
single nucleotide variant |
not provided [RCV002620658] |
Chr2:209881034 [GRCh38]
Chr2:210745758 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2277A>T (p.Gly759=) |
single nucleotide variant |
not provided [RCV002866584] |
Chr2:209820625 [GRCh38]
Chr2:210685349 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2222G>A (p.Gly741Glu) |
single nucleotide variant |
not provided [RCV002736567] |
Chr2:209820570 [GRCh38]
Chr2:210685294 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9508+15_9508+16del |
microsatellite |
not provided [RCV002824361] |
Chr2:209993438..209993439 [GRCh38]
Chr2:210858162..210858163 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7465A>G (p.Thr2489Ala) |
single nucleotide variant |
not provided [RCV002639923] |
Chr2:209957651 [GRCh38]
Chr2:210822375 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9742G>C (p.Glu3248Gln) |
single nucleotide variant |
not provided [RCV003036381] |
Chr2:209995362 [GRCh38]
Chr2:210860086 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3773T>C (p.Ile1258Thr) |
single nucleotide variant |
not provided [RCV003018306] |
Chr2:209872903 [GRCh38]
Chr2:210737627 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6915+20C>T |
single nucleotide variant |
not provided [RCV002639231] |
Chr2:209941509 [GRCh38]
Chr2:210806233 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8043T>A (p.Ile2681=) |
single nucleotide variant |
not provided [RCV002870720] |
Chr2:209969804 [GRCh38]
Chr2:210834528 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1279C>T (p.Arg427Cys) |
single nucleotide variant |
not provided [RCV002706700] |
Chr2:209815335 [GRCh38]
Chr2:210680059 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8013G>T (p.Gln2671His) |
single nucleotide variant |
not provided [RCV002824946] |
Chr2:209969774 [GRCh38]
Chr2:210834498 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3330A>G (p.Arg1110=) |
single nucleotide variant |
not provided [RCV002658964] |
Chr2:209840621 [GRCh38]
Chr2:210705345 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2428C>A (p.His810Asn) |
single nucleotide variant |
not provided [RCV002796368] |
Chr2:209826003 [GRCh38]
Chr2:210690727 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3957G>A (p.Glu1319=) |
single nucleotide variant |
not provided [RCV002639248] |
Chr2:209878070 [GRCh38]
Chr2:210742794 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5227A>T (p.Ile1743Phe) |
single nucleotide variant |
not provided [RCV002825076] |
Chr2:209918547 [GRCh38]
Chr2:210783271 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1628A>G (p.His543Arg) |
single nucleotide variant |
not provided [RCV002998896] |
Chr2:209817887 [GRCh38]
Chr2:210682611 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3762A>G (p.Gly1254=) |
single nucleotide variant |
not provided [RCV002571062] |
Chr2:209872892 [GRCh38]
Chr2:210737616 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9450C>G (p.Arg3150=) |
single nucleotide variant |
not provided [RCV002948350] |
Chr2:209993368 [GRCh38]
Chr2:210858092 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9601G>A (p.Gly3201Ser) |
single nucleotide variant |
not provided [RCV002780226] |
Chr2:209994157 [GRCh38]
Chr2:210858881 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4006C>T (p.Pro1336Ser) |
single nucleotide variant |
not provided [RCV003054959] |
Chr2:209880990 [GRCh38]
Chr2:210745714 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5966A>C (p.Gln1989Pro) |
single nucleotide variant |
not provided [RCV002695391] |
Chr2:209931026 [GRCh38]
Chr2:210795750 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1022C>T (p.Pro341Leu) |
single nucleotide variant |
not provided [RCV002820958] |
Chr2:209813663 [GRCh38]
Chr2:210678387 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1233A>G (p.Lys411=) |
single nucleotide variant |
not provided [RCV003017964] |
Chr2:209815289 [GRCh38]
Chr2:210680013 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2464G>A (p.Val822Ile) |
single nucleotide variant |
not provided [RCV002796482] |
Chr2:209826039 [GRCh38]
Chr2:210690763 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1200+14G>A |
single nucleotide variant |
not provided [RCV002573636] |
Chr2:209813855 [GRCh38]
Chr2:210678579 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4945C>G (p.Leu1649Val) |
single nucleotide variant |
not provided [RCV002666901] |
Chr2:209913856 [GRCh38]
Chr2:210778580 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7287-8G>A |
single nucleotide variant |
not provided [RCV002790840] |
Chr2:209954092 [GRCh38]
Chr2:210818816 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1159G>A (p.Val387Met) |
single nucleotide variant |
not provided [RCV003005251] |
Chr2:209813800 [GRCh38]
Chr2:210678524 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7278A>G (p.Ser2426=) |
single nucleotide variant |
not provided [RCV002711915] |
Chr2:209945935 [GRCh38]
Chr2:210810659 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2014A>G (p.Ile672Val) |
single nucleotide variant |
not provided [RCV002918418] |
Chr2:209820362 [GRCh38]
Chr2:210685086 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5994+17del |
deletion |
not provided [RCV002876231] |
Chr2:209931071 [GRCh38]
Chr2:210795795 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2500C>T (p.Leu834=) |
single nucleotide variant |
not provided [RCV003007747] |
Chr2:209829253 [GRCh38]
Chr2:210693977 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.234G>A (p.Val78=) |
single nucleotide variant |
not provided [RCV003026201] |
Chr2:209775981 [GRCh38]
Chr2:210640705 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9708+13G>T |
single nucleotide variant |
not provided [RCV002875698] |
Chr2:209994277 [GRCh38]
Chr2:210859001 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7022C>G (p.Ala2341Gly) |
single nucleotide variant |
not provided [RCV003059345] |
Chr2:209943486 [GRCh38]
Chr2:210808210 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1290A>G (p.Ala430=) |
single nucleotide variant |
not provided [RCV002932398] |
Chr2:209815346 [GRCh38]
Chr2:210680070 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5656G>A (p.Ala1886Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003088209]|not provided [RCV003082272] |
Chr2:209922377 [GRCh38]
Chr2:210787101 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4137G>A (p.Leu1379=) |
single nucleotide variant |
not provided [RCV002667107] |
Chr2:209888121 [GRCh38]
Chr2:210752845 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9441C>G (p.Pro3147=) |
single nucleotide variant |
not provided [RCV002667110] |
Chr2:209993359 [GRCh38]
Chr2:210858083 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6999G>A (p.Lys2333=) |
single nucleotide variant |
not provided [RCV003043172] |
Chr2:209943463 [GRCh38]
Chr2:210808187 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1335+19_1335+28del |
deletion |
not provided [RCV002626882] |
Chr2:209815408..209815417 [GRCh38]
Chr2:210680132..210680141 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3723G>A (p.Gly1241=) |
single nucleotide variant |
not provided [RCV002791088] |
Chr2:209872853 [GRCh38]
Chr2:210737577 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9681G>A (p.Ala3227=) |
single nucleotide variant |
not provided [RCV002643721] |
Chr2:209994237 [GRCh38]
Chr2:210858961 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.494G>T (p.Ser165Ile) |
single nucleotide variant |
not provided [RCV002701008] |
Chr2:209777453 [GRCh38]
Chr2:210642177 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6192G>T (p.Leu2064Phe) |
single nucleotide variant |
not provided [RCV003041617] |
Chr2:209935727 [GRCh38]
Chr2:210800451 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7693A>G (p.Ile2565Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002919590] |
Chr2:209959595 [GRCh38]
Chr2:210824319 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5765A>T (p.His1922Leu) |
single nucleotide variant |
not provided [RCV002959111] |
Chr2:209926945 [GRCh38]
Chr2:210791669 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3845T>C (p.Ile1282Thr) |
single nucleotide variant |
not provided [RCV002790606] |
Chr2:209877958 [GRCh38]
Chr2:210742682 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3558A>G (p.Gln1186=) |
single nucleotide variant |
not provided [RCV003007474] |
Chr2:209849554 [GRCh38]
Chr2:210714278 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4679G>A (p.Arg1560Gln) |
single nucleotide variant |
not provided [RCV002667780] |
Chr2:209904862 [GRCh38]
Chr2:210769586 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5571G>C (p.Val1857=) |
single nucleotide variant |
not provided [RCV002597006] |
Chr2:209922292 [GRCh38]
Chr2:210787016 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6113A>G (p.Asp2038Gly) |
single nucleotide variant |
not provided [RCV003043297] |
Chr2:209933940 [GRCh38]
Chr2:210798664 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4905G>A (p.Ser1635=) |
single nucleotide variant |
not provided [RCV002851683] |
Chr2:209913816 [GRCh38]
Chr2:210778540 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2082G>T (p.Lys694Asn) |
single nucleotide variant |
not provided [RCV002932464] |
Chr2:209820430 [GRCh38]
Chr2:210685154 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1035G>C (p.Glu345Asp) |
single nucleotide variant |
not provided [RCV003008175] |
Chr2:209813676 [GRCh38]
Chr2:210678400 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9144G>T (p.Val3048=) |
single nucleotide variant |
not provided [RCV002597263] |
Chr2:209982204 [GRCh38]
Chr2:210846928 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8160T>G (p.Val2720=) |
single nucleotide variant |
not provided [RCV002642439] |
Chr2:209970861 [GRCh38]
Chr2:210835585 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7190-11del |
deletion |
not provided [RCV002790105] |
Chr2:209945832 [GRCh38]
Chr2:210810556 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.2332-11G>A |
single nucleotide variant |
not provided [RCV002745552] |
Chr2:209825896 [GRCh38]
Chr2:210690620 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.467G>T (p.Gly156Val) |
single nucleotide variant |
not provided [RCV002918718] |
Chr2:209777426 [GRCh38]
Chr2:210642150 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3719A>C (p.Lys1240Thr) |
single nucleotide variant |
not provided [RCV002701184] |
Chr2:209872849 [GRCh38]
Chr2:210737573 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7892T>C (p.Met2631Thr) |
single nucleotide variant |
not provided [RCV002663838] |
Chr2:209967523 [GRCh38]
Chr2:210832247 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7105T>C (p.Leu2369=) |
single nucleotide variant |
not provided [RCV002851767] |
Chr2:209945105 [GRCh38]
Chr2:210809829 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2344C>A (p.Pro782Thr) |
single nucleotide variant |
not provided [RCV003023763] |
Chr2:209825919 [GRCh38]
Chr2:210690643 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4271A>C (p.Lys1424Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002744095] |
Chr2:209888255 [GRCh38]
Chr2:210752979 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4540G>A (p.Gly1514Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003164775]|not provided [RCV002573824] |
Chr2:209896372 [GRCh38]
Chr2:210761096 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1963-14C>T |
single nucleotide variant |
not provided [RCV002765763] |
Chr2:209820297 [GRCh38]
Chr2:210685021 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.100T>C (p.Leu34=) |
single nucleotide variant |
not provided [RCV003006006] |
Chr2:209773101 [GRCh38]
Chr2:210637825 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9612_9615dup (p.Pro3206fs) |
duplication |
not provided [RCV002871709] |
Chr2:209994165..209994166 [GRCh38]
Chr2:210858889..210858890 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.4706A>G (p.Tyr1569Cys) |
single nucleotide variant |
not provided [RCV003023543] |
Chr2:209904889 [GRCh38]
Chr2:210769613 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1108C>T (p.Pro370Ser) |
single nucleotide variant |
not provided [RCV002802130] |
Chr2:209813749 [GRCh38]
Chr2:210678473 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3841-7del |
deletion |
not provided [RCV003006336] |
Chr2:209877947 [GRCh38]
Chr2:210742671 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4997T>C (p.Leu1666Pro) |
single nucleotide variant |
not provided [RCV002642916] |
Chr2:209913908 [GRCh38]
Chr2:210778632 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3269C>T (p.Ser1090Leu) |
single nucleotide variant |
not provided [RCV002957243] |
Chr2:209840560 [GRCh38]
Chr2:210705284 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9608G>A (p.Ser3203Asn) |
single nucleotide variant |
not provided [RCV002801412] |
Chr2:209994164 [GRCh38]
Chr2:210858888 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3467T>G (p.Phe1156Cys) |
single nucleotide variant |
not provided [RCV002594105] |
Chr2:209849463 [GRCh38]
Chr2:210714187 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8143G>T (p.Val2715Leu) |
single nucleotide variant |
not provided [RCV002572513] |
Chr2:209970844 [GRCh38]
Chr2:210835568 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1645G>C (p.Asp549His) |
single nucleotide variant |
not provided [RCV003024666] |
Chr2:209817904 [GRCh38]
Chr2:210682628 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1449G>A (p.Leu483=) |
single nucleotide variant |
not provided [RCV003022586] |
Chr2:209817022 [GRCh38]
Chr2:210681746 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9103G>A (p.Glu3035Lys) |
single nucleotide variant |
not provided [RCV002786565] |
Chr2:209978693 [GRCh38]
Chr2:210843417 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5177C>T (p.Pro1726Leu) |
single nucleotide variant |
not provided [RCV002593896] |
Chr2:209917924 [GRCh38]
Chr2:210782648 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1086G>T (p.Met362Ile) |
single nucleotide variant |
not provided [RCV003023133] |
Chr2:209813727 [GRCh38]
Chr2:210678451 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9673G>A (p.Val3225Ile) |
single nucleotide variant |
not provided [RCV002850948] |
Chr2:209994229 [GRCh38]
Chr2:210858953 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.667C>T (p.Gln223Ter) |
single nucleotide variant |
not provided [RCV003022253] |
Chr2:209786132 [GRCh38]
Chr2:210650856 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.8587+18C>G |
single nucleotide variant |
not provided [RCV002851536] |
Chr2:209973288 [GRCh38]
Chr2:210838012 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.298+3T>C |
single nucleotide variant |
not provided [RCV003057372] |
Chr2:209776048 [GRCh38]
Chr2:210640772 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7856A>T (p.Gln2619Leu) |
single nucleotide variant |
not provided [RCV003059600] |
Chr2:209967487 [GRCh38]
Chr2:210832211 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.476G>A (p.Gly159Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002928254]|not provided [RCV002914953] |
Chr2:209777435 [GRCh38]
Chr2:210642159 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4582G>T (p.Val1528Leu) |
single nucleotide variant |
not provided [RCV002982528] |
Chr2:209904765 [GRCh38]
Chr2:210769489 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9054C>G (p.Asp3018Glu) |
single nucleotide variant |
not provided [RCV003023937] |
Chr2:209978644 [GRCh38]
Chr2:210843368 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6273+18C>T |
single nucleotide variant |
not provided [RCV002643576] |
Chr2:209935826 [GRCh38]
Chr2:210800550 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9879_9881del (p.Glu3293_Asn3294delinsAsp) |
deletion |
not provided [RCV002667546] |
Chr2:209995498..209995500 [GRCh38]
Chr2:210860222..210860224 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2537T>C (p.Met846Thr) |
single nucleotide variant |
not provided [RCV002825746] |
Chr2:209829290 [GRCh38]
Chr2:210694014 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1688A>C (p.Lys563Thr) |
single nucleotide variant |
not provided [RCV003059288] |
Chr2:209817947 [GRCh38]
Chr2:210682671 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9575C>T (p.Ala3192Val) |
single nucleotide variant |
not provided [RCV002593830] |
Chr2:209994131 [GRCh38]
Chr2:210858855 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.724+16A>G |
single nucleotide variant |
not provided [RCV002918942] |
Chr2:209786205 [GRCh38]
Chr2:210650929 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6166G>T (p.Ala2056Ser) |
single nucleotide variant |
not provided [RCV003057008] |
Chr2:209933993 [GRCh38]
Chr2:210798717 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.92+5G>T |
single nucleotide variant |
not provided [RCV003058156] |
Chr2:209772169 [GRCh38]
Chr2:210636893 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.393G>A (p.Arg131=) |
single nucleotide variant |
not provided [RCV002700812] |
Chr2:209777352 [GRCh38]
Chr2:210642076 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8226T>C (p.Ala2742=) |
single nucleotide variant |
not provided [RCV003025310] |
Chr2:209970927 [GRCh38]
Chr2:210835651 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.975C>G (p.Arg325=) |
single nucleotide variant |
not provided [RCV003040828] |
Chr2:209813616 [GRCh38]
Chr2:210678340 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1200+15G>A |
single nucleotide variant |
not provided [RCV003042001] |
Chr2:209813856 [GRCh38]
Chr2:210678580 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6462A>G (p.Lys2154=) |
single nucleotide variant |
not provided [RCV003040596] |
Chr2:209937627 [GRCh38]
Chr2:210802351 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6465+11A>G |
single nucleotide variant |
not provided [RCV003007540] |
Chr2:209937641 [GRCh38]
Chr2:210802365 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7225A>T (p.Ile2409Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002891507] |
Chr2:209945882 [GRCh38]
Chr2:210810606 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2358T>C (p.His786=) |
single nucleotide variant |
not provided [RCV002595761] |
Chr2:209825933 [GRCh38]
Chr2:210690657 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9564C>T (p.Ala3188=) |
single nucleotide variant |
not provided [RCV002643239] |
Chr2:209994120 [GRCh38]
Chr2:210858844 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.606T>C (p.Ser202=) |
single nucleotide variant |
not provided [RCV002741940] |
Chr2:209786071 [GRCh38]
Chr2:210650795 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2331+13C>T |
single nucleotide variant |
not provided [RCV002663698] |
Chr2:209820692 [GRCh38]
Chr2:210685416 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9663T>C (p.Ser3221=) |
single nucleotide variant |
not provided [RCV002786156] |
Chr2:209994219 [GRCh38]
Chr2:210858943 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1380A>G (p.Pro460=) |
single nucleotide variant |
not provided [RCV003040174] |
Chr2:209816953 [GRCh38]
Chr2:210681677 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.777T>C (p.Asn259=) |
single nucleotide variant |
not provided [RCV002711822] |
Chr2:209789584 [GRCh38]
Chr2:210654308 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2942+1G>A |
single nucleotide variant |
not provided [RCV003025165] |
Chr2:209834169 [GRCh38]
Chr2:210698893 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.9345A>G (p.Gln3115=) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003140126]|UNC80-related condition [RCV003918934]|not provided [RCV002623838] |
Chr2:209992196 [GRCh38]
Chr2:210856920 [GRCh37]
Chr2:2q34 |
likely benign|uncertain significance |
| NM_001371986.1(UNC80):c.6433C>T (p.Pro2145Ser) |
single nucleotide variant |
not provided [RCV003055868] |
Chr2:209937598 [GRCh38]
Chr2:210802322 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1479C>T (p.Ser493=) |
single nucleotide variant |
not provided [RCV002741082] |
Chr2:209817052 [GRCh38]
Chr2:210681776 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4996C>T (p.Leu1666Phe) |
single nucleotide variant |
not provided [RCV002711094] |
Chr2:209913907 [GRCh38]
Chr2:210778631 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.204C>T (p.Ala68=) |
single nucleotide variant |
not provided [RCV003084400] |
Chr2:209775951 [GRCh38]
Chr2:210640675 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5995-5dup |
duplication |
not provided [RCV002932175] |
Chr2:209933815..209933816 [GRCh38]
Chr2:210798539..210798540 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5641C>A (p.Arg1881Ser) |
single nucleotide variant |
not provided [RCV003022475] |
Chr2:209922362 [GRCh38]
Chr2:210787086 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8209C>G (p.Leu2737Val) |
single nucleotide variant |
not provided [RCV002828405] |
Chr2:209970910 [GRCh38]
Chr2:210835634 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.410G>A (p.Arg137Gln) |
single nucleotide variant |
not provided [RCV002625670] |
Chr2:209777369 [GRCh38]
Chr2:210642093 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4842T>C (p.Asn1614=) |
single nucleotide variant |
not provided [RCV003057417] |
Chr2:209912619 [GRCh38]
Chr2:210777343 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5730A>C (p.Pro1910=) |
single nucleotide variant |
not provided [RCV003042160] |
Chr2:209926910 [GRCh38]
Chr2:210791634 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7272C>A (p.Pro2424=) |
single nucleotide variant |
not provided [RCV002876092] |
Chr2:209945929 [GRCh38]
Chr2:210810653 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4542C>T (p.Gly1514=) |
single nucleotide variant |
not provided [RCV002572345] |
Chr2:209896374 [GRCh38]
Chr2:210761098 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6738T>C (p.Phe2246=) |
single nucleotide variant |
not provided [RCV003025061] |
Chr2:209941312 [GRCh38]
Chr2:210806036 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5061G>A (p.Val1687=) |
single nucleotide variant |
not provided [RCV003057596] |
Chr2:209917808 [GRCh38]
Chr2:210782532 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2168G>A (p.Gly723Glu) |
single nucleotide variant |
not provided [RCV002711295] |
Chr2:209820516 [GRCh38]
Chr2:210685240 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6647-12A>G |
single nucleotide variant |
not provided [RCV002700200] |
Chr2:209941209 [GRCh38]
Chr2:210805933 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4963G>A (p.Gly1655Arg) |
single nucleotide variant |
not provided [RCV003085065] |
Chr2:209913874 [GRCh38]
Chr2:210778598 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6274-16G>A |
single nucleotide variant |
not provided [RCV002596525] |
Chr2:209936828 [GRCh38]
Chr2:210801552 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3701A>G (p.Asn1234Ser) |
single nucleotide variant |
not provided [RCV003041750] |
Chr2:209872831 [GRCh38]
Chr2:210737555 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1200+10A>G |
single nucleotide variant |
not provided [RCV002853287] |
Chr2:209813851 [GRCh38]
Chr2:210678575 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5275A>G (p.Met1759Val) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003138295]|not provided [RCV002596937] |
Chr2:209918595 [GRCh38]
Chr2:210783319 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6356A>G (p.Tyr2119Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002826048] |
Chr2:209936926 [GRCh38]
Chr2:210801650 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1440G>A (p.Glu480=) |
single nucleotide variant |
not provided [RCV002765743] |
Chr2:209817013 [GRCh38]
Chr2:210681737 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8175C>T (p.Pro2725=) |
single nucleotide variant |
not provided [RCV002700698] |
Chr2:209970876 [GRCh38]
Chr2:210835600 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7031C>A (p.Ala2344Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002712599] |
Chr2:209943495 [GRCh38]
Chr2:210808219 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3516G>A (p.Val1172=) |
single nucleotide variant |
not provided [RCV002642202] |
Chr2:209849512 [GRCh38]
Chr2:210714236 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2706C>T (p.Ser902=) |
single nucleotide variant |
not provided [RCV002573763] |
Chr2:209831522 [GRCh38]
Chr2:210696246 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3304C>A (p.Leu1102Ile) |
single nucleotide variant |
not provided [RCV002982313] |
Chr2:209840595 [GRCh38]
Chr2:210705319 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.518A>G (p.Asn173Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002710445]|not provided [RCV002701477] |
Chr2:209777477 [GRCh38]
Chr2:210642201 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2943-11C>T |
single nucleotide variant |
not provided [RCV002594794] |
Chr2:209834901 [GRCh38]
Chr2:210699625 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3072G>C (p.Gly1024=) |
single nucleotide variant |
not provided [RCV002710946] |
Chr2:209839252 [GRCh38]
Chr2:210703976 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2541G>A (p.Arg847=) |
single nucleotide variant |
not provided [RCV002876223] |
Chr2:209829294 [GRCh38]
Chr2:210694018 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8973C>T (p.Gly2991=) |
single nucleotide variant |
not provided [RCV003082876] |
Chr2:209978563 [GRCh38]
Chr2:210843287 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3487A>G (p.Asn1163Asp) |
single nucleotide variant |
not provided [RCV002801150] |
Chr2:209849483 [GRCh38]
Chr2:210714207 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2923A>C (p.Lys975Gln) |
single nucleotide variant |
not provided [RCV002701009] |
Chr2:209834149 [GRCh38]
Chr2:210698873 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1565G>A (p.Arg522Gln) |
single nucleotide variant |
not provided [RCV002800649] |
Chr2:209817824 [GRCh38]
Chr2:210682548 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6976C>A (p.Gln2326Lys) |
single nucleotide variant |
not provided [RCV002802190] |
Chr2:209943440 [GRCh38]
Chr2:210808164 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.501T>C (p.Asn167=) |
single nucleotide variant |
not provided [RCV003084478] |
Chr2:209777460 [GRCh38]
Chr2:210642184 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5662+19G>A |
single nucleotide variant |
not provided [RCV002575354] |
Chr2:209922402 [GRCh38]
Chr2:210787126 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7806-7_7806-4del |
deletion |
not provided [RCV003040747] |
Chr2:209967429..209967432 [GRCh38]
Chr2:210832153..210832156 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7654C>T (p.Arg2552Trp) |
single nucleotide variant |
not provided [RCV002642481] |
Chr2:209959556 [GRCh38]
Chr2:210824280 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2316T>C (p.Asp772=) |
single nucleotide variant |
not provided [RCV002939003] |
Chr2:209820664 [GRCh38]
Chr2:210685388 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9397-11A>G |
single nucleotide variant |
not provided [RCV002600882] |
Chr2:209993304 [GRCh38]
Chr2:210858028 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.435C>T (p.Ser145=) |
single nucleotide variant |
not provided [RCV003091763] |
Chr2:209777394 [GRCh38]
Chr2:210642118 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5715A>G (p.Pro1905=) |
single nucleotide variant |
UNC80-related condition [RCV003963695]|not provided [RCV002628026] |
Chr2:209926895 [GRCh38]
Chr2:210791619 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3819G>A (p.Lys1273=) |
single nucleotide variant |
not provided [RCV002580105] |
Chr2:209872949 [GRCh38]
Chr2:210737673 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6178+18T>C |
single nucleotide variant |
not provided [RCV002937464] |
Chr2:209934023 [GRCh38]
Chr2:210798747 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8256+11C>G |
single nucleotide variant |
not provided [RCV002720567] |
Chr2:209970968 [GRCh38]
Chr2:210835692 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.693A>G (p.Ala231=) |
single nucleotide variant |
not provided [RCV002600952] |
Chr2:209786158 [GRCh38]
Chr2:210650882 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2707G>T (p.Ala903Ser) |
single nucleotide variant |
not provided [RCV002810908] |
Chr2:209831523 [GRCh38]
Chr2:210696247 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5265A>G (p.Pro1755=) |
single nucleotide variant |
not provided [RCV002580240] |
Chr2:209918585 [GRCh38]
Chr2:210783309 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7837C>T (p.Leu2613=) |
single nucleotide variant |
not provided [RCV003030048] |
Chr2:209967468 [GRCh38]
Chr2:210832192 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7288C>T (p.Leu2430Phe) |
single nucleotide variant |
not provided [RCV002922035] |
Chr2:209954101 [GRCh38]
Chr2:210818825 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6627A>G (p.Ser2209=) |
single nucleotide variant |
not provided [RCV003030992] |
Chr2:209939633 [GRCh38]
Chr2:210804357 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7899G>A (p.Met2633Ile) |
single nucleotide variant |
not provided [RCV002988394] |
Chr2:209967530 [GRCh38]
Chr2:210832254 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4938A>G (p.Ala1646=) |
single nucleotide variant |
not provided [RCV002631304] |
Chr2:209913849 [GRCh38]
Chr2:210778573 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9501G>A (p.Lys3167=) |
single nucleotide variant |
not provided [RCV003028298] |
Chr2:209993419 [GRCh38]
Chr2:210858143 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1274A>G (p.Asn425Ser) |
single nucleotide variant |
not provided [RCV003026660] |
Chr2:209815330 [GRCh38]
Chr2:210680054 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5029+14A>T |
single nucleotide variant |
not provided [RCV003030886] |
Chr2:209913954 [GRCh38]
Chr2:210778678 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5182A>C (p.Met1728Leu) |
single nucleotide variant |
not provided [RCV002601234] |
Chr2:209917929 [GRCh38]
Chr2:210782653 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5603G>A (p.Arg1868Lys) |
single nucleotide variant |
not provided [RCV003090345] |
Chr2:209922324 [GRCh38]
Chr2:210787048 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2850C>T (p.Ala950=) |
single nucleotide variant |
not provided [RCV002806883] |
Chr2:209834076 [GRCh38]
Chr2:210698800 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8415G>A (p.Leu2805=) |
single nucleotide variant |
not provided [RCV002717245] |
Chr2:209973098 [GRCh38]
Chr2:210837822 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7447G>A (p.Val2483Ile) |
single nucleotide variant |
not provided [RCV002900523] |
Chr2:209954260 [GRCh38]
Chr2:210818984 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3628-17T>C |
single nucleotide variant |
not provided [RCV003009550] |
Chr2:209872741 [GRCh38]
Chr2:210737465 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7726C>T (p.Arg2576Trp) |
single nucleotide variant |
not provided [RCV003031098] |
Chr2:209959628 [GRCh38]
Chr2:210824352 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3251-19T>C |
single nucleotide variant |
not provided [RCV002600702] |
Chr2:209840523 [GRCh38]
Chr2:210705247 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7762C>T (p.Arg2588Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002940821] |
Chr2:209959664 [GRCh38]
Chr2:210824388 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1963-7T>C |
single nucleotide variant |
not provided [RCV002598383] |
Chr2:209820304 [GRCh38]
Chr2:210685028 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2782T>G (p.Tyr928Asp) |
single nucleotide variant |
not provided [RCV002806027] |
Chr2:209834008 [GRCh38]
Chr2:210698732 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.689C>A (p.Thr230Asn) |
single nucleotide variant |
not provided [RCV002746006] |
Chr2:209786154 [GRCh38]
Chr2:210650878 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2943-9T>C |
single nucleotide variant |
not provided [RCV002600769] |
Chr2:209834903 [GRCh38]
Chr2:210699627 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5577A>T (p.Pro1859=) |
single nucleotide variant |
not provided [RCV003048981] |
Chr2:209922298 [GRCh38]
Chr2:210787022 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4214A>G (p.Lys1405Arg) |
single nucleotide variant |
not provided [RCV002600810] |
Chr2:209888198 [GRCh38]
Chr2:210752922 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6391C>G (p.Arg2131Gly) |
single nucleotide variant |
not provided [RCV003010263] |
Chr2:209937556 [GRCh38]
Chr2:210802280 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8007-19C>T |
single nucleotide variant |
not provided [RCV002576632] |
Chr2:209969749 [GRCh38]
Chr2:210834473 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6184A>T (p.Lys2062Ter) |
single nucleotide variant |
not provided [RCV002895857] |
Chr2:209935719 [GRCh38]
Chr2:210800443 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.3045T>C (p.Asp1015=) |
single nucleotide variant |
UNC80-related condition [RCV003973439]|not provided [RCV002597961] |
Chr2:209839225 [GRCh38]
Chr2:210703949 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5530+7T>C |
single nucleotide variant |
not provided [RCV003027339] |
Chr2:209921693 [GRCh38]
Chr2:210786417 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9642C>T (p.Asp3214=) |
single nucleotide variant |
not provided [RCV002598671] |
Chr2:209994198 [GRCh38]
Chr2:210858922 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1358G>A (p.Arg453Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002717470] |
Chr2:209816931 [GRCh38]
Chr2:210681655 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7759C>T (p.Pro2587Ser) |
single nucleotide variant |
not provided [RCV002833017] |
Chr2:209959661 [GRCh38]
Chr2:210824385 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4957A>G (p.Met1653Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002896587] |
Chr2:209913868 [GRCh38]
Chr2:210778592 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.724+20A>C |
single nucleotide variant |
not provided [RCV002671531] |
Chr2:209786209 [GRCh38]
Chr2:210650933 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.564C>T (p.Phe188=) |
single nucleotide variant |
not provided [RCV002578870] |
Chr2:209777523 [GRCh38]
Chr2:210642247 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4569G>C (p.Met1523Ile) |
single nucleotide variant |
not provided [RCV003045083] |
Chr2:209896401 [GRCh38]
Chr2:210761125 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.69G>T (p.Gln23His) |
single nucleotide variant |
not provided [RCV002577078] |
Chr2:209772141 [GRCh38]
Chr2:210636865 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6273+3A>T |
single nucleotide variant |
not provided [RCV003044628] |
Chr2:209935811 [GRCh38]
Chr2:210800535 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3868T>C (p.Cys1290Arg) |
single nucleotide variant |
not provided [RCV003045292] |
Chr2:209877981 [GRCh38]
Chr2:210742705 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6787C>T (p.Leu2263=) |
single nucleotide variant |
not provided [RCV002577342] |
Chr2:209941361 [GRCh38]
Chr2:210806085 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3042-7C>T |
single nucleotide variant |
not provided [RCV002833589] |
Chr2:209839215 [GRCh38]
Chr2:210703939 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3257G>T (p.Trp1086Leu) |
single nucleotide variant |
not provided [RCV002833836] |
Chr2:209840548 [GRCh38]
Chr2:210705272 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3840C>T (p.Asp1280=) |
single nucleotide variant |
not provided [RCV002600134] |
Chr2:209872970 [GRCh38]
Chr2:210737694 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9950C>A (p.Ala3317Glu) |
single nucleotide variant |
not provided [RCV002792037] |
Chr2:209995570 [GRCh38]
Chr2:210860294 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4779A>G (p.Lys1593=) |
single nucleotide variant |
not provided [RCV002672127] |
Chr2:209904962 [GRCh38]
Chr2:210769686 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6433C>A (p.Pro2145Thr) |
single nucleotide variant |
not provided [RCV002832983] |
Chr2:209937598 [GRCh38]
Chr2:210802322 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8570G>A (p.Ser2857Asn) |
single nucleotide variant |
not provided [RCV002629023] |
Chr2:209973253 [GRCh38]
Chr2:210837977 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9359T>G (p.Val3120Gly) |
single nucleotide variant |
not provided [RCV002806382] |
Chr2:209992210 [GRCh38]
Chr2:210856934 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.798+16T>C |
single nucleotide variant |
not provided [RCV002833232] |
Chr2:209789621 [GRCh38]
Chr2:210654345 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6363G>A (p.Lys2121=) |
single nucleotide variant |
not provided [RCV003046056] |
Chr2:209936933 [GRCh38]
Chr2:210801657 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9036C>T (p.Gly3012=) |
single nucleotide variant |
not provided [RCV002646550] |
Chr2:209978626 [GRCh38]
Chr2:210843350 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3874G>A (p.Gly1292Arg) |
single nucleotide variant |
not provided [RCV002577178] |
Chr2:209877987 [GRCh38]
Chr2:210742711 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2887C>T (p.Pro963Ser) |
single nucleotide variant |
not provided [RCV002807171] |
Chr2:209834113 [GRCh38]
Chr2:210698837 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.727A>G (p.Lys243Glu) |
single nucleotide variant |
not provided [RCV002833912] |
Chr2:209789534 [GRCh38]
Chr2:210654258 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6900C>T (p.Leu2300=) |
single nucleotide variant |
not provided [RCV002857715] |
Chr2:209941474 [GRCh38]
Chr2:210806198 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5706_5710del (p.Gln1903fs) |
deletion |
not provided [RCV002899048] |
Chr2:209926885..209926889 [GRCh38]
Chr2:210791609..210791613 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.5035A>G (p.Met1679Val) |
single nucleotide variant |
not provided [RCV003086897] |
Chr2:209917782 [GRCh38]
Chr2:210782506 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2943G>A (p.Arg981=) |
single nucleotide variant |
not provided [RCV003026286] |
Chr2:209834912 [GRCh38]
Chr2:210699636 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7323A>G (p.Pro2441=) |
single nucleotide variant |
not provided [RCV002714815] |
Chr2:209954136 [GRCh38]
Chr2:210818860 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2755T>C (p.Leu919=) |
single nucleotide variant |
not provided [RCV002716639] |
Chr2:209831571 [GRCh38]
Chr2:210696295 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9311C>G (p.Ser3104Cys) |
single nucleotide variant |
not provided [RCV003011218] |
Chr2:209984909 [GRCh38]
Chr2:210849633 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2856C>T (p.Ser952=) |
single nucleotide variant |
not provided [RCV002628551] |
Chr2:209834082 [GRCh38]
Chr2:210698806 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2637G>A (p.Gly879=) |
single nucleotide variant |
not provided [RCV003010472] |
Chr2:209831453 [GRCh38]
Chr2:210696177 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7286+15T>G |
single nucleotide variant |
not provided [RCV002578676] |
Chr2:209945958 [GRCh38]
Chr2:210810682 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9722C>G (p.Pro3241Arg) |
single nucleotide variant |
not provided [RCV003030056] |
Chr2:209995342 [GRCh38]
Chr2:210860066 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.725-11del |
deletion |
not provided [RCV003047783] |
Chr2:209789520 [GRCh38]
Chr2:210654244 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2844A>G (p.Arg948=) |
single nucleotide variant |
not provided [RCV003048054] |
Chr2:209834070 [GRCh38]
Chr2:210698794 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8588-9G>C |
single nucleotide variant |
not provided [RCV002650371] |
Chr2:209976110 [GRCh38]
Chr2:210840834 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9222A>G (p.Val3074=) |
single nucleotide variant |
not provided [RCV002645939] |
Chr2:209982282 [GRCh38]
Chr2:210847006 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3121G>A (p.Asp1041Asn) |
single nucleotide variant |
not provided [RCV002922106] |
Chr2:209839301 [GRCh38]
Chr2:210704025 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8928T>G (p.His2976Gln) |
single nucleotide variant |
not provided [RCV002631258] |
Chr2:209977068 [GRCh38]
Chr2:210841792 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2591C>G (p.Ala864Gly) |
single nucleotide variant |
not provided [RCV002806796] |
Chr2:209829344 [GRCh38]
Chr2:210694068 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8577A>G (p.Ala2859=) |
single nucleotide variant |
not provided [RCV002834636] |
Chr2:209973260 [GRCh38]
Chr2:210837984 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7539G>A (p.Gly2513=) |
single nucleotide variant |
not provided [RCV002630287] |
Chr2:209957725 [GRCh38]
Chr2:210822449 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1918G>A (p.Gly640Arg) |
single nucleotide variant |
not provided [RCV003086955] |
Chr2:209819217 [GRCh38]
Chr2:210683941 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2332-12C>T |
single nucleotide variant |
not provided [RCV002598052] |
Chr2:209825895 [GRCh38]
Chr2:210690619 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5171T>C (p.Val1724Ala) |
single nucleotide variant |
not provided [RCV003009999] |
Chr2:209917918 [GRCh38]
Chr2:210782642 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.950T>A (p.Val317Glu) |
single nucleotide variant |
not provided [RCV002810828] |
Chr2:209813591 [GRCh38]
Chr2:210678315 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4582-9G>A |
single nucleotide variant |
not provided [RCV002806884] |
Chr2:209904756 [GRCh38]
Chr2:210769480 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2332-13T>C |
single nucleotide variant |
not provided [RCV002833573] |
Chr2:209825894 [GRCh38]
Chr2:210690618 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3894C>A (p.Ala1298=) |
single nucleotide variant |
not provided [RCV002877366] |
Chr2:209878007 [GRCh38]
Chr2:210742731 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.190G>C (p.Ala64Pro) |
single nucleotide variant |
not provided [RCV003047063] |
Chr2:209775937 [GRCh38]
Chr2:210640661 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5190A>G (p.Glu1730=) |
single nucleotide variant |
not provided [RCV002598127] |
Chr2:209917937 [GRCh38]
Chr2:210782661 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.676G>A (p.Val226Ile) |
single nucleotide variant |
not provided [RCV002576992] |
Chr2:209786141 [GRCh38]
Chr2:210650865 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2002A>G (p.Ile668Val) |
single nucleotide variant |
not provided [RCV002600478] |
Chr2:209820350 [GRCh38]
Chr2:210685074 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2157A>G (p.Lys719=) |
single nucleotide variant |
not provided [RCV002671599] |
Chr2:209820505 [GRCh38]
Chr2:210685229 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5029+1G>A |
single nucleotide variant |
not provided [RCV003048108] |
Chr2:209913941 [GRCh38]
Chr2:210778665 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.5427G>A (p.Lys1809=) |
single nucleotide variant |
not provided [RCV003027288] |
Chr2:209921583 [GRCh38]
Chr2:210786307 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7050+19A>G |
single nucleotide variant |
not provided [RCV002580885] |
Chr2:209943533 [GRCh38]
Chr2:210808257 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3042-8G>A |
single nucleotide variant |
not provided [RCV002877498] |
Chr2:209839214 [GRCh38]
Chr2:210703938 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7782dup (p.Leu2595fs) |
duplication |
not provided [RCV002895368] |
Chr2:209959683..209959684 [GRCh38]
Chr2:210824407..210824408 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.6669C>T (p.Leu2223=) |
single nucleotide variant |
not provided [RCV002671668] |
Chr2:209941243 [GRCh38]
Chr2:210805967 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2480C>G (p.Ala827Gly) |
single nucleotide variant |
not provided [RCV002720562] |
Chr2:209829233 [GRCh38]
Chr2:210693957 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7190-10G>A |
single nucleotide variant |
not provided [RCV002628082] |
Chr2:209945837 [GRCh38]
Chr2:210810561 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9409C>G (p.Leu3137Val) |
single nucleotide variant |
not provided [RCV002599705] |
Chr2:209993327 [GRCh38]
Chr2:210858051 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3840+11G>A |
single nucleotide variant |
not provided [RCV002675522] |
Chr2:209872981 [GRCh38]
Chr2:210737705 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7890C>T (p.Ile2630=) |
single nucleotide variant |
not provided [RCV002720592] |
Chr2:209967521 [GRCh38]
Chr2:210832245 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1157T>C (p.Met386Thr) |
single nucleotide variant |
not provided [RCV002577499] |
Chr2:209813798 [GRCh38]
Chr2:210678522 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2584T>C (p.Leu862=) |
single nucleotide variant |
not provided [RCV002770417] |
Chr2:209829337 [GRCh38]
Chr2:210694061 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2952G>A (p.Ala984=) |
single nucleotide variant |
not provided [RCV002578774] |
Chr2:209834921 [GRCh38]
Chr2:210699645 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3041+10G>A |
single nucleotide variant |
not provided [RCV002581021] |
Chr2:209835020 [GRCh38]
Chr2:210699744 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3041+9C>T |
single nucleotide variant |
not provided [RCV003045397] |
Chr2:209835019 [GRCh38]
Chr2:210699743 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8014G>A (p.Val2672Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003170853]|not provided [RCV003009949] |
Chr2:209969775 [GRCh38]
Chr2:210834499 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8427A>G (p.Thr2809=) |
single nucleotide variant |
not provided [RCV003046155] |
Chr2:209973110 [GRCh38]
Chr2:210837834 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9257+17A>G |
single nucleotide variant |
not provided [RCV003045149] |
Chr2:209982334 [GRCh38]
Chr2:210847058 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8587+11TC[6] |
microsatellite |
not provided [RCV002579898] |
Chr2:209973281..209973284 [GRCh38]
Chr2:210838005..210838008 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.798+18A>G |
single nucleotide variant |
not provided [RCV002857419] |
Chr2:209789623 [GRCh38]
Chr2:210654347 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8465C>T (p.Thr2822Ile) |
single nucleotide variant |
not provided [RCV002602561] |
Chr2:209973148 [GRCh38]
Chr2:210837872 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5499A>T (p.Thr1833=) |
single nucleotide variant |
not provided [RCV002628296] |
Chr2:209921655 [GRCh38]
Chr2:210786379 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5807-13T>A |
single nucleotide variant |
not provided [RCV002895590] |
Chr2:209929858 [GRCh38]
Chr2:210794582 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5758A>G (p.Ile1920Val) |
single nucleotide variant |
not provided [RCV002834353] |
Chr2:209926938 [GRCh38]
Chr2:210791662 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2730A>G (p.Thr910=) |
single nucleotide variant |
not provided [RCV002599903] |
Chr2:209831546 [GRCh38]
Chr2:210696270 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.2493C>G (p.Leu831=) |
single nucleotide variant |
not provided [RCV002835277] |
Chr2:209829246 [GRCh38]
Chr2:210693970 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5104C>T (p.Pro1702Ser) |
single nucleotide variant |
not provided [RCV003029761] |
Chr2:209917851 [GRCh38]
Chr2:210782575 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5530+14A>G |
single nucleotide variant |
not provided [RCV002857502] |
Chr2:209921700 [GRCh38]
Chr2:210786424 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2540G>A (p.Arg847Lys) |
single nucleotide variant |
not provided [RCV003046795] |
Chr2:209829293 [GRCh38]
Chr2:210694017 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9622A>G (p.Arg3208Gly) |
single nucleotide variant |
not provided [RCV002601190] |
Chr2:209994178 [GRCh38]
Chr2:210858902 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1684G>A (p.Val562Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002602386]|not provided [RCV002602387] |
Chr2:209817943 [GRCh38]
Chr2:210682667 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5344-17C>A |
single nucleotide variant |
not provided [RCV002580424] |
Chr2:209921483 [GRCh38]
Chr2:210786207 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9127A>G (p.Ile3043Val) |
single nucleotide variant |
not provided [RCV002675851] |
Chr2:209982187 [GRCh38]
Chr2:210846911 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3951T>C (p.Asp1317=) |
single nucleotide variant |
not provided [RCV002745992] |
Chr2:209878064 [GRCh38]
Chr2:210742788 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1225G>A (p.Glu409Lys) |
single nucleotide variant |
not provided [RCV002627508] |
Chr2:209815281 [GRCh38]
Chr2:210680005 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6916-19A>G |
single nucleotide variant |
not provided [RCV002577072] |
Chr2:209943361 [GRCh38]
Chr2:210808085 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2338A>G (p.Ser780Gly) |
single nucleotide variant |
not provided [RCV003051768] |
Chr2:209825913 [GRCh38]
Chr2:210690637 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3903G>A (p.Leu1301=) |
single nucleotide variant |
not provided [RCV003066077] |
Chr2:209878016 [GRCh38]
Chr2:210742740 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2296G>A (p.Gly766Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002655769] |
Chr2:209820644 [GRCh38]
Chr2:210685368 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7402G>A (p.Ala2468Thr) |
single nucleotide variant |
not provided [RCV002943461] |
Chr2:209954215 [GRCh38]
Chr2:210818939 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7315T>A (p.Leu2439Ile) |
single nucleotide variant |
not provided [RCV003069151] |
Chr2:209954128 [GRCh38]
Chr2:210818852 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8641T>C (p.Trp2881Arg) |
single nucleotide variant |
not provided [RCV003092612] |
Chr2:209976172 [GRCh38]
Chr2:210840896 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7806-17AT[5] |
microsatellite |
UNC80-related condition [RCV003916485]|not provided [RCV002582979] |
Chr2:209967420..209967421 [GRCh38]
Chr2:210832144..210832145 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9892A>G (p.Asn3298Asp) |
single nucleotide variant |
not provided [RCV002721996] |
Chr2:209995512 [GRCh38]
Chr2:210860236 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2327A>T (p.Glu776Val) |
single nucleotide variant |
not provided [RCV002635004] |
Chr2:209820675 [GRCh38]
Chr2:210685399 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2188G>A (p.Gly730Arg) |
single nucleotide variant |
not provided [RCV002583998] |
Chr2:209820536 [GRCh38]
Chr2:210685260 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7662G>A (p.Glu2554=) |
single nucleotide variant |
not provided [RCV002815055] |
Chr2:209959564 [GRCh38]
Chr2:210824288 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9119-19A>G |
single nucleotide variant |
not provided [RCV002583795] |
Chr2:209982160 [GRCh38]
Chr2:210846884 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3011T>C (p.Met1004Thr) |
single nucleotide variant |
not provided [RCV002680722] |
Chr2:209834980 [GRCh38]
Chr2:210699704 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3191G>A (p.Arg1064Gln) |
single nucleotide variant |
not provided [RCV002584559] |
Chr2:209839371 [GRCh38]
Chr2:210704095 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1553-14C>T |
single nucleotide variant |
not provided [RCV002725410] |
Chr2:209817798 [GRCh38]
Chr2:210682522 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9408T>A (p.Pro3136=) |
single nucleotide variant |
not provided [RCV002605206] |
Chr2:209993326 [GRCh38]
Chr2:210858050 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1408C>T (p.Arg470Trp) |
single nucleotide variant |
not provided [RCV002721409] |
Chr2:209816981 [GRCh38]
Chr2:210681705 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9010A>G (p.Met3004Val) |
single nucleotide variant |
not provided [RCV003093554] |
Chr2:209978600 [GRCh38]
Chr2:210843324 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6778A>G (p.Asn2260Asp) |
single nucleotide variant |
not provided [RCV002814398] |
Chr2:209941352 [GRCh38]
Chr2:210806076 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2992G>A (p.Glu998Lys) |
single nucleotide variant |
not provided [RCV002814424] |
Chr2:209834961 [GRCh38]
Chr2:210699685 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2775+14C>T |
single nucleotide variant |
not provided [RCV002584502] |
Chr2:209831605 [GRCh38]
Chr2:210696329 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3513C>T (p.Asn1171=) |
single nucleotide variant |
not provided [RCV002582361] |
Chr2:209849509 [GRCh38]
Chr2:210714233 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1221C>G (p.Asn407Lys) |
single nucleotide variant |
not provided [RCV002814868] |
Chr2:209815277 [GRCh38]
Chr2:210680001 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7190-7C>G |
single nucleotide variant |
not provided [RCV002722125] |
Chr2:209945840 [GRCh38]
Chr2:210810564 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6628C>T (p.Leu2210Phe) |
single nucleotide variant |
not provided [RCV002725298] |
Chr2:209939634 [GRCh38]
Chr2:210804358 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1963-20G>A |
single nucleotide variant |
not provided [RCV002814313] |
Chr2:209820291 [GRCh38]
Chr2:210685015 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6658C>T (p.Leu2220=) |
single nucleotide variant |
not provided [RCV002725335] |
Chr2:209941232 [GRCh38]
Chr2:210805956 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2695A>G (p.Ile899Val) |
single nucleotide variant |
not provided [RCV002607430] |
Chr2:209831511 [GRCh38]
Chr2:210696235 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.299-10T>G |
single nucleotide variant |
not provided [RCV002944300] |
Chr2:209777248 [GRCh38]
Chr2:210641972 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5094G>A (p.Glu1698=) |
single nucleotide variant |
not provided [RCV002607452] |
Chr2:209917841 [GRCh38]
Chr2:210782565 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9708+1G>A |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003134636]|not provided [RCV003072780] |
Chr2:209994265 [GRCh38]
Chr2:210858989 [GRCh37]
Chr2:2q34 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371986.1(UNC80):c.3024C>T (p.Pro1008=) |
single nucleotide variant |
not provided [RCV002608487] |
Chr2:209834993 [GRCh38]
Chr2:210699717 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5080A>G (p.Met1694Val) |
single nucleotide variant |
not provided [RCV002589492] |
Chr2:209917827 [GRCh38]
Chr2:210782551 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3455-14_3455-13inv |
inversion |
not provided [RCV002610045] |
Chr2:209849437..209849438 [GRCh38]
Chr2:210714161..210714162 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6363+10del |
deletion |
not provided [RCV003069454] |
Chr2:209936942 [GRCh38]
Chr2:210801666 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2060G>A (p.Gly687Asp) |
single nucleotide variant |
not provided [RCV002608674] |
Chr2:209820408 [GRCh38]
Chr2:210685132 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5662+7C>G |
single nucleotide variant |
not provided [RCV003071937] |
Chr2:209922390 [GRCh38]
Chr2:210787114 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8857C>A (p.Arg2953Ser) |
single nucleotide variant |
not provided [RCV002603501] |
Chr2:209976997 [GRCh38]
Chr2:210841721 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7824C>T (p.His2608=) |
single nucleotide variant |
not provided [RCV002587141] |
Chr2:209967455 [GRCh38]
Chr2:210832179 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5901T>C (p.Asn1967=) |
single nucleotide variant |
not provided [RCV002587180] |
Chr2:209929965 [GRCh38]
Chr2:210794689 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5806+6G>A |
single nucleotide variant |
not provided [RCV003073294] |
Chr2:209926992 [GRCh38]
Chr2:210791716 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6916-8T>G |
single nucleotide variant |
not provided [RCV002590090] |
Chr2:209943372 [GRCh38]
Chr2:210808096 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2437C>T (p.Leu813Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002814095] |
Chr2:209826012 [GRCh38]
Chr2:210690736 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1552+12G>C |
single nucleotide variant |
not provided [RCV002635762] |
Chr2:209817137 [GRCh38]
Chr2:210681861 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8877G>A (p.Ser2959=) |
single nucleotide variant |
not provided [RCV002586335] |
Chr2:209977017 [GRCh38]
Chr2:210841741 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4111-19C>G |
single nucleotide variant |
not provided [RCV002943380] |
Chr2:209888076 [GRCh38]
Chr2:210752800 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7806-14T>C |
single nucleotide variant |
not provided [RCV002587310] |
Chr2:209967423 [GRCh38]
Chr2:210832147 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1745C>T (p.Ala582Val) |
single nucleotide variant |
not provided [RCV002608105] |
Chr2:209819044 [GRCh38]
Chr2:210683768 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5024C>T (p.Ala1675Val) |
single nucleotide variant |
not provided [RCV002942796] |
Chr2:209913935 [GRCh38]
Chr2:210778659 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9540G>T (p.Glu3180Asp) |
single nucleotide variant |
not provided [RCV002608184] |
Chr2:209994096 [GRCh38]
Chr2:210858820 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8588-17C>T |
single nucleotide variant |
not provided [RCV002612974] |
Chr2:209976102 [GRCh38]
Chr2:210840826 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5578T>C (p.Ser1860Pro) |
single nucleotide variant |
not provided [RCV003067663] |
Chr2:209922299 [GRCh38]
Chr2:210787023 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7347G>T (p.Arg2449Ser) |
single nucleotide variant |
not provided [RCV002588522] |
Chr2:209954160 [GRCh38]
Chr2:210818884 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7707C>A (p.Phe2569Leu) |
single nucleotide variant |
not provided [RCV002653150] |
Chr2:209959609 [GRCh38]
Chr2:210824333 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8197C>T (p.Leu2733Phe) |
single nucleotide variant |
not provided [RCV002604625] |
Chr2:209970898 [GRCh38]
Chr2:210835622 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.222A>G (p.Arg74=) |
single nucleotide variant |
not provided [RCV002607606] |
Chr2:209775969 [GRCh38]
Chr2:210640693 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3143A>G (p.Gln1048Arg) |
single nucleotide variant |
not provided [RCV002588856] |
Chr2:209839323 [GRCh38]
Chr2:210704047 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2892G>A (p.Gly964=) |
single nucleotide variant |
not provided [RCV002609525] |
Chr2:209834118 [GRCh38]
Chr2:210698842 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6495G>A (p.Gly2165=) |
single nucleotide variant |
not provided [RCV003050193] |
Chr2:209939501 [GRCh38]
Chr2:210804225 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1119A>G (p.Pro373=) |
single nucleotide variant |
not provided [RCV002589232] |
Chr2:209813760 [GRCh38]
Chr2:210678484 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5165A>C (p.Tyr1722Ser) |
single nucleotide variant |
not provided [RCV002606560] |
Chr2:209917912 [GRCh38]
Chr2:210782636 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7457+11T>C |
single nucleotide variant |
not provided [RCV002608457] |
Chr2:209954281 [GRCh38]
Chr2:210819005 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3435G>T (p.Glu1145Asp) |
single nucleotide variant |
not provided [RCV002586224] |
Chr2:209842427 [GRCh38]
Chr2:210707151 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6063G>C (p.Leu2021=) |
single nucleotide variant |
not provided [RCV003073062] |
Chr2:209933890 [GRCh38]
Chr2:210798614 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9094C>G (p.Arg3032Gly) |
single nucleotide variant |
not provided [RCV002589978] |
Chr2:209978684 [GRCh38]
Chr2:210843408 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7159G>A (p.Val2387Ile) |
single nucleotide variant |
not provided [RCV002590129] |
Chr2:209945159 [GRCh38]
Chr2:210809883 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2898G>C (p.Lys966Asn) |
single nucleotide variant |
not provided [RCV003071115] |
Chr2:209834124 [GRCh38]
Chr2:210698848 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2891G>T (p.Gly964Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003215163] |
Chr2:209834117 [GRCh38]
Chr2:210698841 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2242G>A (p.Gly748Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003198641] |
Chr2:209820590 [GRCh38]
Chr2:210685314 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3512A>G (p.Asn1171Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003210728] |
Chr2:209849508 [GRCh38]
Chr2:210714232 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8437G>A (p.Val2813Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003200340] |
Chr2:209973120 [GRCh38]
Chr2:210837844 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3979A>G (p.Thr1327Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003211518] |
Chr2:209880963 [GRCh38]
Chr2:210745687 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.713A>G (p.Asn238Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003174941] |
Chr2:209786178 [GRCh38]
Chr2:210650902 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9070C>G (p.Gln3024Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003198902] |
Chr2:209978660 [GRCh38]
Chr2:210843384 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6303A>T (p.Glu2101Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003214715]|not provided [RCV003669364] |
Chr2:209936873 [GRCh38]
Chr2:210801597 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6680A>G (p.Gln2227Arg) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003139237] |
Chr2:209941254 [GRCh38]
Chr2:210805978 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4229_4240del (p.Ser1410_His1413del) |
deletion |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003139238] |
Chr2:209888208..209888219 [GRCh38]
Chr2:210752932..210752943 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7843C>G (p.Pro2615Ala) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003139239] |
Chr2:209967474 [GRCh38]
Chr2:210832198 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9418C>T (p.Arg3140Cys) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003139240] |
Chr2:209993336 [GRCh38]
Chr2:210858060 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.764G>A (p.Cys255Tyr) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003139241] |
Chr2:209789571 [GRCh38]
Chr2:210654295 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.106C>A (p.Pro36Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003198758] |
Chr2:209773107 [GRCh38]
Chr2:210637831 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4534A>G (p.Asn1512Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003212759] |
Chr2:209896366 [GRCh38]
Chr2:210761090 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7222del (p.Ser2408fs) |
deletion |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003133075] |
Chr2:209945876 [GRCh38]
Chr2:210810600 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.7169A>T (p.Glu2390Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003265908] |
Chr2:209945169 [GRCh38]
Chr2:210809893 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8459T>C (p.Ile2820Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003262498] |
Chr2:209973142 [GRCh38]
Chr2:210837866 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.899C>A (p.Ser300Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003310010] |
Chr2:209793820 [GRCh38]
Chr2:210658544 [GRCh37]
Chr2:2q34 |
uncertain significance |
| GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 |
copy number gain |
See cases [RCV003329558] |
Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1 |
pathogenic |
| NM_001371986.1(UNC80):c.3848G>T (p.Gly1283Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003386851] |
Chr2:209877961 [GRCh38]
Chr2:210742685 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.8939-14C>G |
single nucleotide variant |
not provided [RCV003691798] |
Chr2:209978515 [GRCh38]
Chr2:210843239 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1164A>G (p.Ala388=) |
single nucleotide variant |
not provided [RCV003873037] |
Chr2:209813805 [GRCh38]
Chr2:210678529 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5343+19C>T |
single nucleotide variant |
not provided [RCV003690919] |
Chr2:209918682 [GRCh38]
Chr2:210783406 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6192G>A (p.Leu2064=) |
single nucleotide variant |
not provided [RCV003569724] |
Chr2:209935727 [GRCh38]
Chr2:210800451 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4891-1G>A |
single nucleotide variant |
not provided [RCV003571252] |
Chr2:209913801 [GRCh38]
Chr2:210778525 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.7674C>T (p.Pro2558=) |
single nucleotide variant |
not provided [RCV003875379] |
Chr2:209959576 [GRCh38]
Chr2:210824300 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3993T>A (p.Ser1331=) |
single nucleotide variant |
not provided [RCV003875396] |
Chr2:209880977 [GRCh38]
Chr2:210745701 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4595T>C (p.Leu1532Pro) |
single nucleotide variant |
not provided [RCV003570797] |
Chr2:209904778 [GRCh38]
Chr2:210769502 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3579G>A (p.Glu1193=) |
single nucleotide variant |
not provided [RCV003570946] |
Chr2:209849575 [GRCh38]
Chr2:210714299 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2466A>T (p.Val822=) |
single nucleotide variant |
not provided [RCV003542996] |
Chr2:209826041 [GRCh38]
Chr2:210690765 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8091G>A (p.Leu2697=) |
single nucleotide variant |
not provided [RCV003571651] |
Chr2:209969852 [GRCh38]
Chr2:210834576 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2154C>T (p.Phe718=) |
single nucleotide variant |
not provided [RCV003570948] |
Chr2:209820502 [GRCh38]
Chr2:210685226 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6364-15A>T |
single nucleotide variant |
not provided [RCV003571702] |
Chr2:209937514 [GRCh38]
Chr2:210802238 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1228dup (p.Glu410fs) |
duplication |
not provided [RCV003686231] |
Chr2:209815282..209815283 [GRCh38]
Chr2:210680006..210680007 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.7392T>A (p.Ile2464=) |
single nucleotide variant |
not specified [RCV003479691] |
Chr2:209954205 [GRCh38]
Chr2:210818929 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5539G>T (p.Val1847Phe) |
single nucleotide variant |
not specified [RCV003479689] |
Chr2:209922260 [GRCh38]
Chr2:210786984 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9118+20C>G |
single nucleotide variant |
not provided [RCV003691330] |
Chr2:209978728 [GRCh38]
Chr2:210843452 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7395G>A (p.Ala2465=) |
single nucleotide variant |
not provided [RCV003440147] |
Chr2:209954208 [GRCh38]
Chr2:210818932 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2018G>A (p.Cys673Tyr) |
single nucleotide variant |
not provided [RCV003443435] |
Chr2:209820366 [GRCh38]
Chr2:210685090 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3205C>T (p.Arg1069Ter) |
single nucleotide variant |
not provided [RCV003441608] |
Chr2:209839385 [GRCh38]
Chr2:210704109 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.3687C>A (p.Arg1229=) |
single nucleotide variant |
not provided [RCV003440146] |
Chr2:209872817 [GRCh38]
Chr2:210737541 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8218_8219insTGAA (p.Ser2740fs) |
insertion |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003389309] |
Chr2:209970918..209970919 [GRCh38]
Chr2:210835642..210835643 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.6647-17G>C |
single nucleotide variant |
not provided [RCV003575221] |
Chr2:209941204 [GRCh38]
Chr2:210805928 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8673G>A (p.Leu2891=) |
single nucleotide variant |
not provided [RCV003696694] |
Chr2:209976204 [GRCh38]
Chr2:210840928 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1335+13G>A |
single nucleotide variant |
not provided [RCV003579135] |
Chr2:209815404 [GRCh38]
Chr2:210680128 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1668C>T (p.Ser556=) |
single nucleotide variant |
not provided [RCV003713260] |
Chr2:209817927 [GRCh38]
Chr2:210682651 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4662C>T (p.His1554=) |
single nucleotide variant |
not provided [RCV003661494] |
Chr2:209904845 [GRCh38]
Chr2:210769569 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.601-6C>G |
single nucleotide variant |
not provided [RCV003849028] |
Chr2:209786060 [GRCh38]
Chr2:210650784 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.601-15T>G |
single nucleotide variant |
not provided [RCV003715973] |
Chr2:209786051 [GRCh38]
Chr2:210650775 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7551-9G>A |
single nucleotide variant |
not provided [RCV003579521] |
Chr2:209959110 [GRCh38]
Chr2:210823834 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7089T>C (p.Ala2363=) |
single nucleotide variant |
not provided [RCV003687297] |
Chr2:209945089 [GRCh38]
Chr2:210809813 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5095T>A (p.Phe1699Ile) |
single nucleotide variant |
not provided [RCV003692082] |
Chr2:209917842 [GRCh38]
Chr2:210782566 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7065T>C (p.Asn2355=) |
single nucleotide variant |
not provided [RCV003713467] |
Chr2:209945065 [GRCh38]
Chr2:210809789 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.601-5C>T |
single nucleotide variant |
not provided [RCV003714954] |
Chr2:209786061 [GRCh38]
Chr2:210650785 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7593C>T (p.Asn2531=) |
single nucleotide variant |
not provided [RCV003879583] |
Chr2:209959495 [GRCh38]
Chr2:210824219 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8124C>T (p.Val2708=) |
single nucleotide variant |
not provided [RCV003695812] |
Chr2:209969885 [GRCh38]
Chr2:210834609 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1407A>G (p.Pro469=) |
single nucleotide variant |
not provided [RCV003687634] |
Chr2:209816980 [GRCh38]
Chr2:210681704 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.600+11A>C |
single nucleotide variant |
not provided [RCV003696437] |
Chr2:209777570 [GRCh38]
Chr2:210642294 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3455-17_3455-10del |
deletion |
not provided [RCV003578741] |
Chr2:209849429..209849436 [GRCh38]
Chr2:210714153..210714160 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3809A>T (p.Asn1270Ile) |
single nucleotide variant |
not provided [RCV003696395] |
Chr2:209872939 [GRCh38]
Chr2:210737663 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6570G>A (p.Gln2190=) |
single nucleotide variant |
not provided [RCV003738985] |
Chr2:209939576 [GRCh38]
Chr2:210804300 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9111T>C (p.Asp3037=) |
single nucleotide variant |
not provided [RCV003575685] |
Chr2:209978701 [GRCh38]
Chr2:210843425 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5030-8G>A |
single nucleotide variant |
not provided [RCV003575589] |
Chr2:209917769 [GRCh38]
Chr2:210782493 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6646_6646+1insTCATT |
insertion |
not provided [RCV003692547] |
Chr2:209939652..209939653 [GRCh38]
Chr2:210804376..210804377 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.4197C>T (p.Asp1399=) |
single nucleotide variant |
not provided [RCV003661345] |
Chr2:209888181 [GRCh38]
Chr2:210752905 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4110+19G>A |
single nucleotide variant |
not provided [RCV003826894] |
Chr2:209881113 [GRCh38]
Chr2:210745837 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7788T>C (p.Asp2596=) |
single nucleotide variant |
not provided [RCV003547259] |
Chr2:209959690 [GRCh38]
Chr2:210824414 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3646A>C (p.Arg1216=) |
single nucleotide variant |
not provided [RCV003662133] |
Chr2:209872776 [GRCh38]
Chr2:210737500 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4251A>C (p.Ser1417=) |
single nucleotide variant |
not provided [RCV003882151] |
Chr2:209888235 [GRCh38]
Chr2:210752959 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.799-13C>T |
single nucleotide variant |
not provided [RCV003693937] |
Chr2:209793707 [GRCh38]
Chr2:210658431 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6364-16T>C |
single nucleotide variant |
not provided [RCV003830668] |
Chr2:209937513 [GRCh38]
Chr2:210802237 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1078C>A (p.Arg360=) |
single nucleotide variant |
not provided [RCV003544495] |
Chr2:209813719 [GRCh38]
Chr2:210678443 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1986T>G (p.Leu662=) |
single nucleotide variant |
not provided [RCV003695660] |
Chr2:209820334 [GRCh38]
Chr2:210685058 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5700T>C (p.His1900=) |
single nucleotide variant |
not provided [RCV003715454] |
Chr2:209926880 [GRCh38]
Chr2:210791604 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8400G>A (p.Gln2800=) |
single nucleotide variant |
not provided [RCV003827838] |
Chr2:209973083 [GRCh38]
Chr2:210837807 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7074C>T (p.Ser2358=) |
single nucleotide variant |
not provided [RCV003663030] |
Chr2:209945074 [GRCh38]
Chr2:210809798 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5097C>T (p.Phe1699=) |
single nucleotide variant |
not provided [RCV003544106] |
Chr2:209917844 [GRCh38]
Chr2:210782568 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4173G>A (p.Lys1391=) |
single nucleotide variant |
not provided [RCV003572794] |
Chr2:209888157 [GRCh38]
Chr2:210752881 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9168C>T (p.Leu3056=) |
single nucleotide variant |
not provided [RCV003576225] |
Chr2:209982228 [GRCh38]
Chr2:210846952 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9510G>T (p.Ala3170=) |
single nucleotide variant |
not provided [RCV003738719] |
Chr2:209994066 [GRCh38]
Chr2:210858790 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5531-5G>C |
single nucleotide variant |
not provided [RCV003687828] |
Chr2:209922247 [GRCh38]
Chr2:210786971 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7286+11C>T |
single nucleotide variant |
not provided [RCV003830206] |
Chr2:209945954 [GRCh38]
Chr2:210810678 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6647-20G>A |
single nucleotide variant |
not provided [RCV003713332] |
Chr2:209941201 [GRCh38]
Chr2:210805925 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3444C>T (p.Phe1148=) |
single nucleotide variant |
not provided [RCV003690815] |
Chr2:209842436 [GRCh38]
Chr2:210707160 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4609_4610del (p.Ser1537fs) |
microsatellite |
not provided [RCV003690073] |
Chr2:209904790..209904791 [GRCh38]
Chr2:210769514..210769515 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.5310G>T (p.Gly1770=) |
single nucleotide variant |
not provided [RCV003694061] |
Chr2:209918630 [GRCh38]
Chr2:210783354 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8381-8C>T |
single nucleotide variant |
not provided [RCV003713022] |
Chr2:209973056 [GRCh38]
Chr2:210837780 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8938+16A>G |
single nucleotide variant |
not provided [RCV003545491] |
Chr2:209977094 [GRCh38]
Chr2:210841818 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7457+8C>G |
single nucleotide variant |
not provided [RCV003692936] |
Chr2:209954278 [GRCh38]
Chr2:210819002 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2626+10G>A |
single nucleotide variant |
not provided [RCV003693758] |
Chr2:209829389 [GRCh38]
Chr2:210694113 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5029+20A>C |
single nucleotide variant |
not provided [RCV003695006] |
Chr2:209913960 [GRCh38]
Chr2:210778684 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9495A>G (p.Lys3165=) |
single nucleotide variant |
not provided [RCV003830761] |
Chr2:209993413 [GRCh38]
Chr2:210858137 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1552+2T>C |
single nucleotide variant |
not provided [RCV003877713] |
Chr2:209817127 [GRCh38]
Chr2:210681851 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.4276+1G>T |
single nucleotide variant |
not provided [RCV003546422] |
Chr2:209888261 [GRCh38]
Chr2:210752985 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.6978G>A (p.Gln2326=) |
single nucleotide variant |
not provided [RCV003573941] |
Chr2:209943442 [GRCh38]
Chr2:210808166 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1066C>T (p.Leu356=) |
single nucleotide variant |
not provided [RCV003547338] |
Chr2:209813707 [GRCh38]
Chr2:210678431 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8289G>A (p.Val2763=) |
single nucleotide variant |
not provided [RCV003547339] |
Chr2:209972233 [GRCh38]
Chr2:210836957 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.690C>G (p.Thr230=) |
single nucleotide variant |
not provided [RCV003713180] |
Chr2:209786155 [GRCh38]
Chr2:210650879 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7550+18_7550+20dup |
duplication |
not provided [RCV003547742] |
Chr2:209957751..209957752 [GRCh38]
Chr2:210822475..210822476 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9004G>A (p.Ala3002Thr) |
single nucleotide variant |
not provided [RCV003663049] |
Chr2:209978594 [GRCh38]
Chr2:210843318 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3455-24_3455-9del |
deletion |
not provided [RCV003690885] |
Chr2:209849426..209849441 [GRCh38]
Chr2:210714150..210714165 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5642_5657dup (p.Glu1887fs) |
duplication |
not provided [RCV003574610] |
Chr2:209922354..209922355 [GRCh38]
Chr2:210787078..210787079 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.3816_3817del (p.Lys1273fs) |
deletion |
not provided [RCV003690403] |
Chr2:209872946..209872947 [GRCh38]
Chr2:210737670..210737671 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.1201-12_1201-9del |
deletion |
not provided [RCV003691117] |
Chr2:209815243..209815246 [GRCh38]
Chr2:210679967..210679970 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3153A>G (p.Ser1051=) |
single nucleotide variant |
not provided [RCV003876961] |
Chr2:209839333 [GRCh38]
Chr2:210704057 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8487G>C (p.Met2829Ile) |
single nucleotide variant |
not provided [RCV003544682] |
Chr2:209973170 [GRCh38]
Chr2:210837894 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1677A>G (p.Glu559=) |
single nucleotide variant |
not provided [RCV003545127] |
Chr2:209817936 [GRCh38]
Chr2:210682660 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3930G>A (p.Lys1310=) |
single nucleotide variant |
not provided [RCV003712840] |
Chr2:209878043 [GRCh38]
Chr2:210742767 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6646+2_6646+3insTTGATCCTCAAG |
insertion |
not provided [RCV003692548] |
Chr2:209939654..209939655 [GRCh38]
Chr2:210804378..210804379 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.1923C>G (p.Thr641=) |
single nucleotide variant |
not provided [RCV003824719] |
Chr2:209819222 [GRCh38]
Chr2:210683946 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7344G>A (p.Lys2448=) |
single nucleotide variant |
not provided [RCV003828367] |
Chr2:209954157 [GRCh38]
Chr2:210818881 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4566C>T (p.Asn1522=) |
single nucleotide variant |
not provided [RCV003688000] |
Chr2:209896398 [GRCh38]
Chr2:210761122 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8130+16G>T |
single nucleotide variant |
not provided [RCV003692993] |
Chr2:209969907 [GRCh38]
Chr2:210834631 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5418G>A (p.Glu1806=) |
single nucleotide variant |
not provided [RCV003713177] |
Chr2:209921574 [GRCh38]
Chr2:210786298 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4809A>G (p.Thr1603=) |
single nucleotide variant |
not provided [RCV003659674] |
Chr2:209912586 [GRCh38]
Chr2:210777310 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8313G>A (p.Glu2771=) |
single nucleotide variant |
not provided [RCV003851510] |
Chr2:209972257 [GRCh38]
Chr2:210836981 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1920G>A (p.Gly640=) |
single nucleotide variant |
not provided [RCV003833120] |
Chr2:209819219 [GRCh38]
Chr2:210683943 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1857T>A (p.Pro619=) |
single nucleotide variant |
not provided [RCV003835206] |
Chr2:209819156 [GRCh38]
Chr2:210683880 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3977-12T>A |
single nucleotide variant |
not provided [RCV003580885] |
Chr2:209880949 [GRCh38]
Chr2:210745673 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3358-10C>A |
single nucleotide variant |
not provided [RCV003851630] |
Chr2:209842340 [GRCh38]
Chr2:210707064 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2547T>C (p.Tyr849=) |
single nucleotide variant |
not provided [RCV003832197] |
Chr2:209829300 [GRCh38]
Chr2:210694024 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1200+20T>C |
single nucleotide variant |
not provided [RCV003697276] |
Chr2:209813861 [GRCh38]
Chr2:210678585 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1201-6A>G |
single nucleotide variant |
not provided [RCV003698201] |
Chr2:209815251 [GRCh38]
Chr2:210679975 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3120T>C (p.Ser1040=) |
single nucleotide variant |
not provided [RCV003849940] |
Chr2:209839300 [GRCh38]
Chr2:210704024 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6033G>A (p.Glu2011=) |
single nucleotide variant |
not provided [RCV003697481] |
Chr2:209933860 [GRCh38]
Chr2:210798584 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6729G>A (p.Pro2243=) |
single nucleotide variant |
not provided [RCV003717608] |
Chr2:209941303 [GRCh38]
Chr2:210806027 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6915+15C>T |
single nucleotide variant |
not provided [RCV003850121] |
Chr2:209941504 [GRCh38]
Chr2:210806228 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8436T>C (p.Asn2812=) |
single nucleotide variant |
not provided [RCV003726595] |
Chr2:209973119 [GRCh38]
Chr2:210837843 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6534C>G (p.Pro2178=) |
single nucleotide variant |
UNC80-related condition [RCV003956530]|not provided [RCV003726682] |
Chr2:209939540 [GRCh38]
Chr2:210804264 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3226C>T (p.Arg1076Ter) |
single nucleotide variant |
not provided [RCV003724209] |
Chr2:209839406 [GRCh38]
Chr2:210704130 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.1581T>C (p.Asp527=) |
single nucleotide variant |
not provided [RCV003701363] |
Chr2:209817840 [GRCh38]
Chr2:210682564 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9810T>C (p.Asp3270=) |
single nucleotide variant |
not provided [RCV003817223] |
Chr2:209995430 [GRCh38]
Chr2:210860154 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7806-11A>G |
single nucleotide variant |
not provided [RCV003673393] |
Chr2:209967426 [GRCh38]
Chr2:210832150 [GRCh37]
Chr2:2q34 |
likely benign |
| NC_000002.12:g.209818993_209818994del |
deletion |
not provided [RCV003697378] |
Chr2:209818992..209818993 [GRCh38]
Chr2:210683716..210683717 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.5289G>T (p.Pro1763=) |
single nucleotide variant |
not provided [RCV003702778] |
Chr2:209918609 [GRCh38]
Chr2:210783333 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5742T>C (p.Cys1914=) |
single nucleotide variant |
not provided [RCV003840459] |
Chr2:209926922 [GRCh38]
Chr2:210791646 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9849T>C (p.His3283=) |
single nucleotide variant |
not provided [RCV003668219] |
Chr2:209995469 [GRCh38]
Chr2:210860193 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3933dup (p.Arg1312fs) |
duplication |
not provided [RCV003549117] |
Chr2:209878044..209878045 [GRCh38]
Chr2:210742768..210742769 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.90C>T (p.Thr30=) |
single nucleotide variant |
not provided [RCV003664511] |
Chr2:209772162 [GRCh38]
Chr2:210636886 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5952A>T (p.Gly1984=) |
single nucleotide variant |
not provided [RCV003726822] |
Chr2:209931012 [GRCh38]
Chr2:210795736 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7752T>G (p.Ala2584=) |
single nucleotide variant |
not provided [RCV003703576] |
Chr2:209959654 [GRCh38]
Chr2:210824378 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4014C>T (p.Ala1338=) |
single nucleotide variant |
not provided [RCV003673382] |
Chr2:209880998 [GRCh38]
Chr2:210745722 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3328C>T (p.Arg1110Ter) |
single nucleotide variant |
not provided [RCV003674065] |
Chr2:209840619 [GRCh38]
Chr2:210705343 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.938+9T>C |
single nucleotide variant |
not provided [RCV003816325] |
Chr2:209793868 [GRCh38]
Chr2:210658592 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2040G>T (p.Val680=) |
single nucleotide variant |
not provided [RCV003673332] |
Chr2:209820388 [GRCh38]
Chr2:210685112 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7408C>G (p.Leu2470Val) |
single nucleotide variant |
not provided [RCV003697144] |
Chr2:209954221 [GRCh38]
Chr2:210818945 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.92+8G>T |
single nucleotide variant |
not provided [RCV003673050] |
Chr2:209772172 [GRCh38]
Chr2:210636896 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4110+11G>A |
single nucleotide variant |
not provided [RCV003659281] |
Chr2:209881105 [GRCh38]
Chr2:210745829 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2055A>G (p.Gln685=) |
single nucleotide variant |
not provided [RCV003670330] |
Chr2:209820403 [GRCh38]
Chr2:210685127 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1626C>T (p.Ser542=) |
single nucleotide variant |
not provided [RCV003855423] |
Chr2:209817885 [GRCh38]
Chr2:210682609 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1899G>A (p.Glu633=) |
single nucleotide variant |
not provided [RCV003856494] |
Chr2:209819198 [GRCh38]
Chr2:210683922 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8406G>A (p.Glu2802=) |
single nucleotide variant |
not provided [RCV003674146] |
Chr2:209973089 [GRCh38]
Chr2:210837813 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3774T>C (p.Ile1258=) |
single nucleotide variant |
not provided [RCV003672764] |
Chr2:209872904 [GRCh38]
Chr2:210737628 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8380+5_8380+8dup |
duplication |
not provided [RCV003836816] |
Chr2:209972327..209972328 [GRCh38]
Chr2:210837051..210837052 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6337C>T (p.Arg2113Ter) |
single nucleotide variant |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [RCV003756644] |
Chr2:209936907 [GRCh38]
Chr2:210801631 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.2019_2020del (p.Cys673_Asp674delinsTer) |
microsatellite |
not provided [RCV003561922] |
Chr2:209820365..209820366 [GRCh38]
Chr2:210685089..210685090 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.3730G>A (p.Val1244Met) |
single nucleotide variant |
not provided [RCV003666360] |
Chr2:209872860 [GRCh38]
Chr2:210737584 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7422A>G (p.Leu2474=) |
single nucleotide variant |
not provided [RCV003703098] |
Chr2:209954235 [GRCh38]
Chr2:210818959 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4962C>T (p.Tyr1654=) |
single nucleotide variant |
not provided [RCV003726302] |
Chr2:209913873 [GRCh38]
Chr2:210778597 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6647-7C>T |
single nucleotide variant |
not provided [RCV003580084] |
Chr2:209941214 [GRCh38]
Chr2:210805938 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1113G>A (p.Pro371=) |
single nucleotide variant |
not provided [RCV003816749] |
Chr2:209813754 [GRCh38]
Chr2:210678478 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2139G>A (p.Glu713=) |
single nucleotide variant |
not provided [RCV003561640] |
Chr2:209820487 [GRCh38]
Chr2:210685211 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.51C>G (p.Gly17=) |
single nucleotide variant |
not provided [RCV003700117] |
Chr2:209772123 [GRCh38]
Chr2:210636847 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5250G>A (p.Pro1750=) |
single nucleotide variant |
not provided [RCV003815131] |
Chr2:209918570 [GRCh38]
Chr2:210783294 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8130+20T>G |
single nucleotide variant |
not provided [RCV003558291] |
Chr2:209969911 [GRCh38]
Chr2:210834635 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4985G>A (p.Trp1662Ter) |
single nucleotide variant |
not provided [RCV003667925] |
Chr2:209913896 [GRCh38]
Chr2:210778620 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.9042C>A (p.Val3014=) |
single nucleotide variant |
not provided [RCV003549687] |
Chr2:209978632 [GRCh38]
Chr2:210843356 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4104T>G (p.Pro1368=) |
single nucleotide variant |
not provided [RCV003560680] |
Chr2:209881088 [GRCh38]
Chr2:210745812 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5029+12C>A |
single nucleotide variant |
not provided [RCV003672217] |
Chr2:209913952 [GRCh38]
Chr2:210778676 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9393G>A (p.Arg3131=) |
single nucleotide variant |
not provided [RCV003672626] |
Chr2:209992244 [GRCh38]
Chr2:210856968 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8939-17T>C |
single nucleotide variant |
not provided [RCV003700408] |
Chr2:209978512 [GRCh38]
Chr2:210843236 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9397-15G>A |
single nucleotide variant |
not provided [RCV003811920] |
Chr2:209993300 [GRCh38]
Chr2:210858024 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3720A>G (p.Lys1240=) |
single nucleotide variant |
not provided [RCV003814726] |
Chr2:209872850 [GRCh38]
Chr2:210737574 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1605G>C (p.Leu535=) |
single nucleotide variant |
not provided [RCV003672729] |
Chr2:209817864 [GRCh38]
Chr2:210682588 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4770G>A (p.Lys1590=) |
single nucleotide variant |
not provided [RCV003669873] |
Chr2:209904953 [GRCh38]
Chr2:210769677 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3331C>T (p.Leu1111Phe) |
single nucleotide variant |
not provided [RCV003832894] |
Chr2:209840622 [GRCh38]
Chr2:210705346 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.9396+11C>G |
single nucleotide variant |
not provided [RCV003699797] |
Chr2:209992258 [GRCh38]
Chr2:210856982 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.462C>T (p.Asn154=) |
single nucleotide variant |
not provided [RCV003817345] |
Chr2:209777421 [GRCh38]
Chr2:210642145 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4038T>C (p.Leu1346=) |
single nucleotide variant |
not provided [RCV003671313] |
Chr2:209881022 [GRCh38]
Chr2:210745746 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2626+16C>T |
single nucleotide variant |
not provided [RCV003834706] |
Chr2:209829395 [GRCh38]
Chr2:210694119 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3454+12G>A |
single nucleotide variant |
not provided [RCV003673147] |
Chr2:209842458 [GRCh38]
Chr2:210707182 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6466-6C>T |
single nucleotide variant |
not provided [RCV003698587] |
Chr2:209939466 [GRCh38]
Chr2:210804190 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1791G>A (p.Arg597=) |
single nucleotide variant |
not provided [RCV003549831] |
Chr2:209819090 [GRCh38]
Chr2:210683814 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6916-14G>A |
single nucleotide variant |
not provided [RCV003851871] |
Chr2:209943366 [GRCh38]
Chr2:210808090 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8322G>A (p.Glu2774=) |
single nucleotide variant |
not provided [RCV003724182] |
Chr2:209972266 [GRCh38]
Chr2:210836990 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4521A>G (p.Pro1507=) |
single nucleotide variant |
not provided [RCV003723560] |
Chr2:209896353 [GRCh38]
Chr2:210761077 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6179-11A>C |
single nucleotide variant |
not provided [RCV003667328] |
Chr2:209935703 [GRCh38]
Chr2:210800427 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7806-5T>A |
single nucleotide variant |
not provided [RCV003559431] |
Chr2:209967432 [GRCh38]
Chr2:210832156 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8325G>A (p.Gly2775=) |
single nucleotide variant |
not provided [RCV003664130] |
Chr2:209972269 [GRCh38]
Chr2:210836993 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5148G>A (p.Thr1716=) |
single nucleotide variant |
not provided [RCV003837439] |
Chr2:209917895 [GRCh38]
Chr2:210782619 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6924C>T (p.Ser2308=) |
single nucleotide variant |
not provided [RCV003548332] |
Chr2:209943388 [GRCh38]
Chr2:210808112 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4782+19A>C |
single nucleotide variant |
not provided [RCV003814628] |
Chr2:209904984 [GRCh38]
Chr2:210769708 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.372C>G (p.Pro124=) |
single nucleotide variant |
not provided [RCV003668297] |
Chr2:209777331 [GRCh38]
Chr2:210642055 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3449G>A (p.Arg1150His) |
single nucleotide variant |
not provided [RCV003815864] |
Chr2:209842441 [GRCh38]
Chr2:210707165 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7068G>A (p.Gly2356=) |
single nucleotide variant |
not provided [RCV003717348] |
Chr2:209945068 [GRCh38]
Chr2:210809792 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8130+15G>T |
single nucleotide variant |
not provided [RCV003667274] |
Chr2:209969906 [GRCh38]
Chr2:210834630 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9901C>T (p.Leu3301=) |
single nucleotide variant |
not provided [RCV003665459] |
Chr2:209995521 [GRCh38]
Chr2:210860245 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3849C>T (p.Gly1283=) |
single nucleotide variant |
not provided [RCV003838869] |
Chr2:209877962 [GRCh38]
Chr2:210742686 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9509-20T>C |
single nucleotide variant |
not provided [RCV003698243] |
Chr2:209994045 [GRCh38]
Chr2:210858769 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7286+17A>T |
single nucleotide variant |
not provided [RCV003665516] |
Chr2:209945960 [GRCh38]
Chr2:210810684 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9088C>T (p.Leu3030=) |
single nucleotide variant |
not provided [RCV003667400] |
Chr2:209978678 [GRCh38]
Chr2:210843402 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9228G>A (p.Gln3076=) |
single nucleotide variant |
not provided [RCV003724319] |
Chr2:209982288 [GRCh38]
Chr2:210847012 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8625C>T (p.Leu2875=) |
single nucleotide variant |
not provided [RCV003814619] |
Chr2:209976156 [GRCh38]
Chr2:210840880 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3537A>G (p.Arg1179=) |
single nucleotide variant |
not provided [RCV003850989] |
Chr2:209849533 [GRCh38]
Chr2:210714257 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1209C>T (p.Thr403=) |
single nucleotide variant |
not provided [RCV003666536] |
Chr2:209815265 [GRCh38]
Chr2:210679989 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7051-14T>C |
single nucleotide variant |
not provided [RCV003666026] |
Chr2:209945037 [GRCh38]
Chr2:210809761 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5806+16_5806+24del |
deletion |
not provided [RCV003704581] |
Chr2:209927000..209927008 [GRCh38]
Chr2:210791724..210791732 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8440C>G (p.Leu2814Val) |
single nucleotide variant |
not provided [RCV003842763] |
Chr2:209973123 [GRCh38]
Chr2:210837847 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.3246C>T (p.Pro1082=) |
single nucleotide variant |
not provided [RCV003565006] |
Chr2:209839426 [GRCh38]
Chr2:210704150 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1458C>T (p.Ser486=) |
single nucleotide variant |
not provided [RCV003705033] |
Chr2:209817031 [GRCh38]
Chr2:210681755 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2805C>A (p.Val935=) |
single nucleotide variant |
not provided [RCV003678600] |
Chr2:209834031 [GRCh38]
Chr2:210698755 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1552+14C>G |
single nucleotide variant |
not provided [RCV003551883] |
Chr2:209817139 [GRCh38]
Chr2:210681863 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6915+10A>G |
single nucleotide variant |
not provided [RCV003728345] |
Chr2:209941499 [GRCh38]
Chr2:210806223 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9858T>C (p.Thr3286=) |
single nucleotide variant |
not provided [RCV003823969] |
Chr2:209995478 [GRCh38]
Chr2:210860202 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2943-5C>T |
single nucleotide variant |
not provided [RCV003710391] |
Chr2:209834907 [GRCh38]
Chr2:210699631 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9396+19C>G |
single nucleotide variant |
not provided [RCV003552233] |
Chr2:209992266 [GRCh38]
Chr2:210856990 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3977-19dup |
duplication |
not provided [RCV003709399] |
Chr2:209880941..209880942 [GRCh38]
Chr2:210745665..210745666 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4002T>C (p.Gly1334=) |
single nucleotide variant |
not provided [RCV003553308] |
Chr2:209880986 [GRCh38]
Chr2:210745710 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5457C>T (p.Ile1819=) |
single nucleotide variant |
not provided [RCV003553343] |
Chr2:209921613 [GRCh38]
Chr2:210786337 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2479-17_2479-16del |
deletion |
not provided [RCV003567904] |
Chr2:209829213..209829214 [GRCh38]
Chr2:210693937..210693938 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2331+15C>T |
single nucleotide variant |
not provided [RCV003709572] |
Chr2:209820694 [GRCh38]
Chr2:210685418 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4953G>A (p.Glu1651=) |
single nucleotide variant |
not provided [RCV003566997] |
Chr2:209913864 [GRCh38]
Chr2:210778588 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8415G>T (p.Leu2805=) |
single nucleotide variant |
not provided [RCV003818900] |
Chr2:209973098 [GRCh38]
Chr2:210837822 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3696T>A (p.Arg1232=) |
single nucleotide variant |
not provided [RCV003682793] |
Chr2:209872826 [GRCh38]
Chr2:210737550 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9521G>A (p.Arg3174Gln) |
single nucleotide variant |
not provided [RCV003858546] |
Chr2:209994077 [GRCh38]
Chr2:210858801 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6273+19A>C |
single nucleotide variant |
not provided [RCV003563896] |
Chr2:209935827 [GRCh38]
Chr2:210800551 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1693+20dup |
duplication |
not provided [RCV003563012] |
Chr2:209817971..209817972 [GRCh38]
Chr2:210682695..210682696 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.601-4dup |
duplication |
not provided [RCV003864230] |
Chr2:209786056..209786057 [GRCh38]
Chr2:210650780..210650781 [GRCh37]
Chr2:2q34 |
benign |
| NM_001371986.1(UNC80):c.6216C>A (p.Cys2072Ter) |
single nucleotide variant |
not provided [RCV003711406] |
Chr2:209935751 [GRCh38]
Chr2:210800475 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.7653T>C (p.Ala2551=) |
single nucleotide variant |
not provided [RCV003705895] |
Chr2:209959555 [GRCh38]
Chr2:210824279 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1694-6T>C |
single nucleotide variant |
not provided [RCV003707970] |
Chr2:209818987 [GRCh38]
Chr2:210683711 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5029+13C>A |
single nucleotide variant |
not provided [RCV003845097] |
Chr2:209913953 [GRCh38]
Chr2:210778677 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.609C>T (p.Asp203=) |
single nucleotide variant |
not provided [RCV003842543] |
Chr2:209786074 [GRCh38]
Chr2:210650798 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7230T>C (p.Ser2410=) |
single nucleotide variant |
not provided [RCV003705329] |
Chr2:209945887 [GRCh38]
Chr2:210810611 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.799-11del |
deletion |
not provided [RCV003680482] |
Chr2:209793709 [GRCh38]
Chr2:210658433 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3042-15T>G |
single nucleotide variant |
not provided [RCV003542039] |
Chr2:209839207 [GRCh38]
Chr2:210703931 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6126G>A (p.Thr2042=) |
single nucleotide variant |
not provided [RCV003841696] |
Chr2:209933953 [GRCh38]
Chr2:210798677 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9255G>A (p.Gln3085=) |
single nucleotide variant |
not provided [RCV003678265] |
Chr2:209982315 [GRCh38]
Chr2:210847039 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3123C>T (p.Asp1041=) |
single nucleotide variant |
not provided [RCV003734139] |
Chr2:209839303 [GRCh38]
Chr2:210704027 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5832A>G (p.Leu1944=) |
single nucleotide variant |
not provided [RCV003710765] |
Chr2:209929896 [GRCh38]
Chr2:210794620 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5247G>T (p.Ser1749=) |
single nucleotide variant |
not provided [RCV003676197] |
Chr2:209918567 [GRCh38]
Chr2:210783291 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4782+11G>T |
single nucleotide variant |
not provided [RCV003861105] |
Chr2:209904976 [GRCh38]
Chr2:210769700 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.497C>G (p.Ser166Cys) |
single nucleotide variant |
not provided [RCV003679363] |
Chr2:209777456 [GRCh38]
Chr2:210642180 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6703C>T (p.Leu2235=) |
single nucleotide variant |
not provided [RCV003863592] |
Chr2:209941277 [GRCh38]
Chr2:210806001 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4077T>C (p.Ser1359=) |
single nucleotide variant |
not provided [RCV003711786] |
Chr2:209881061 [GRCh38]
Chr2:210745785 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.92+10G>A |
single nucleotide variant |
not provided [RCV003844026] |
Chr2:209772174 [GRCh38]
Chr2:210636898 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6915+11C>A |
single nucleotide variant |
not provided [RCV003680843] |
Chr2:209941500 [GRCh38]
Chr2:210806224 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9508+13G>A |
single nucleotide variant |
not provided [RCV003860912] |
Chr2:209993439 [GRCh38]
Chr2:210858163 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.105G>A (p.Arg35=) |
single nucleotide variant |
not provided [RCV003706494] |
Chr2:209773106 [GRCh38]
Chr2:210637830 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3455-4A>G |
single nucleotide variant |
not provided [RCV003551878] |
Chr2:209849447 [GRCh38]
Chr2:210714171 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2187C>T (p.Phe729=) |
single nucleotide variant |
not provided [RCV003819345] |
Chr2:209820535 [GRCh38]
Chr2:210685259 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8529G>A (p.Ala2843=) |
single nucleotide variant |
not provided [RCV003707564] |
Chr2:209973212 [GRCh38]
Chr2:210837936 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9621T>C (p.Ser3207=) |
single nucleotide variant |
not provided [RCV003824266] |
Chr2:209994177 [GRCh38]
Chr2:210858901 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7728G>T (p.Arg2576=) |
single nucleotide variant |
not provided [RCV003867343] |
Chr2:209959630 [GRCh38]
Chr2:210824354 [GRCh37]
Chr2:2q34 |
likely benign |
| GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1 |
copy number loss |
not specified [RCV003986210] |
Chr2:204110688..211638554 [GRCh37]
Chr2:2q33.2-34 |
pathogenic |
| NM_001371986.1(UNC80):c.82C>A (p.Arg28=) |
single nucleotide variant |
not provided [RCV003721017] |
Chr2:209772154 [GRCh38]
Chr2:210636878 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5908-7_5908-5del |
microsatellite |
not provided [RCV003685210] |
Chr2:209930956..209930958 [GRCh38]
Chr2:210795680..210795682 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2918A>G (p.Glu973Gly) |
single nucleotide variant |
not provided [RCV003711592] |
Chr2:209834144 [GRCh38]
Chr2:210698868 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7185A>G (p.Ser2395=) |
single nucleotide variant |
not provided [RCV003684105] |
Chr2:209945185 [GRCh38]
Chr2:210809909 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4782+12A>G |
single nucleotide variant |
not provided [RCV003568427] |
Chr2:209904977 [GRCh38]
Chr2:210769701 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9894C>T (p.Asn3298=) |
single nucleotide variant |
not provided [RCV003685850] |
Chr2:209995514 [GRCh38]
Chr2:210860238 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8175C>A (p.Pro2725=) |
single nucleotide variant |
not provided [RCV003722568] |
Chr2:209970876 [GRCh38]
Chr2:210835600 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.390G>A (p.Glu130=) |
single nucleotide variant |
not provided [RCV003871016] |
Chr2:209777349 [GRCh38]
Chr2:210642073 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9118+10T>C |
single nucleotide variant |
not provided [RCV003722638] |
Chr2:209978718 [GRCh38]
Chr2:210843442 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6366C>T (p.Thr2122=) |
single nucleotide variant |
not provided [RCV003737153] |
Chr2:209937531 [GRCh38]
Chr2:210802255 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5859A>G (p.Ser1953=) |
single nucleotide variant |
not provided [RCV003682983] |
Chr2:209929923 [GRCh38]
Chr2:210794647 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1693+11G>A |
single nucleotide variant |
not provided [RCV003719182] |
Chr2:209817963 [GRCh38]
Chr2:210682687 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7869T>C (p.Ser2623=) |
single nucleotide variant |
not provided [RCV003710509] |
Chr2:209967500 [GRCh38]
Chr2:210832224 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3888C>T (p.Ser1296=) |
single nucleotide variant |
not provided [RCV003684156] |
Chr2:209878001 [GRCh38]
Chr2:210742725 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8908del (p.Ile2970fs) |
deletion |
not provided [RCV003868191] |
Chr2:209977044 [GRCh38]
Chr2:210841768 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.7752T>C (p.Ala2584=) |
single nucleotide variant |
not provided [RCV003554734] |
Chr2:209959654 [GRCh38]
Chr2:210824378 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4893G>A (p.Val1631=) |
single nucleotide variant |
not provided [RCV003720193] |
Chr2:209913804 [GRCh38]
Chr2:210778528 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2775+8G>A |
single nucleotide variant |
not provided [RCV003841192] |
Chr2:209831599 [GRCh38]
Chr2:210696323 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7041G>A (p.Leu2347=) |
single nucleotide variant |
not provided [RCV003842614] |
Chr2:209943505 [GRCh38]
Chr2:210808229 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7551-1G>C |
single nucleotide variant |
not provided [RCV003552747] |
Chr2:209959118 [GRCh38]
Chr2:210823842 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.6606T>C (p.Ser2202=) |
single nucleotide variant |
not provided [RCV003685262] |
Chr2:209939612 [GRCh38]
Chr2:210804336 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3250+7G>A |
single nucleotide variant |
not provided [RCV003684608] |
Chr2:209839437 [GRCh38]
Chr2:210704161 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.8773-12C>T |
single nucleotide variant |
not provided [RCV003868044] |
Chr2:209976901 [GRCh38]
Chr2:210841625 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8784A>G (p.Gln2928=) |
single nucleotide variant |
not provided [RCV003685346] |
Chr2:209976924 [GRCh38]
Chr2:210841648 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5469C>G (p.Pro1823=) |
single nucleotide variant |
not provided [RCV003737895] |
Chr2:209921625 [GRCh38]
Chr2:210786349 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5412G>A (p.Gln1804=) |
single nucleotide variant |
not provided [RCV003567651] |
Chr2:209921568 [GRCh38]
Chr2:210786292 [GRCh37]
Chr2:2q34 |
likely benign |
| GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 |
copy number loss |
not specified [RCV003986323] |
Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34 |
pathogenic |
| NM_001371986.1(UNC80):c.5505G>C (p.Thr1835=) |
single nucleotide variant |
not provided [RCV003720048] |
Chr2:209921661 [GRCh38]
Chr2:210786385 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9303C>A (p.Gly3101=) |
single nucleotide variant |
not provided [RCV003718863] |
Chr2:209984901 [GRCh38]
Chr2:210849625 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6274-12C>T |
single nucleotide variant |
not provided [RCV003859199] |
Chr2:209936832 [GRCh38]
Chr2:210801556 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7806-16T>C |
single nucleotide variant |
not provided [RCV003681865] |
Chr2:209967421 [GRCh38]
Chr2:210832145 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1137C>T (p.Pro379=) |
single nucleotide variant |
not provided [RCV003720946] |
Chr2:209813778 [GRCh38]
Chr2:210678502 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8694C>A (p.Ala2898=) |
single nucleotide variant |
not provided [RCV003867070] |
Chr2:209976225 [GRCh38]
Chr2:210840949 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5111C>T (p.Thr1704Ile) |
single nucleotide variant |
not provided [RCV003684833] |
Chr2:209917858 [GRCh38]
Chr2:210782582 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.5344-18G>A |
single nucleotide variant |
not provided [RCV003820656] |
Chr2:209921482 [GRCh38]
Chr2:210786206 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1336-10A>G |
single nucleotide variant |
not provided [RCV003680389] |
Chr2:209816899 [GRCh38]
Chr2:210681623 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7722G>T (p.Gly2574=) |
single nucleotide variant |
not provided [RCV003684024] |
Chr2:209959624 [GRCh38]
Chr2:210824348 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9552G>A (p.Glu3184=) |
single nucleotide variant |
not provided [RCV003721362] |
Chr2:209994108 [GRCh38]
Chr2:210858832 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5310G>A (p.Gly1770=) |
single nucleotide variant |
not provided [RCV003859667] |
Chr2:209918630 [GRCh38]
Chr2:210783354 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2626+9A>G |
single nucleotide variant |
not provided [RCV003707894] |
Chr2:209829388 [GRCh38]
Chr2:210694112 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9643G>T (p.Glu3215Ter) |
single nucleotide variant |
not provided [RCV003721217] |
Chr2:209994199 [GRCh38]
Chr2:210858923 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.3564G>A (p.Leu1188=) |
single nucleotide variant |
not provided [RCV003684177] |
Chr2:209849560 [GRCh38]
Chr2:210714284 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5958T>C (p.Phe1986=) |
single nucleotide variant |
not provided [RCV003723023] |
Chr2:209931018 [GRCh38]
Chr2:210795742 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5683C>T (p.His1895Tyr) |
single nucleotide variant |
not provided [RCV003843607] |
Chr2:209926863 [GRCh38]
Chr2:210791587 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.724+19C>G |
single nucleotide variant |
not provided [RCV003853380] |
Chr2:209786208 [GRCh38]
Chr2:210650932 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3426T>C (p.Asp1142=) |
single nucleotide variant |
not provided [RCV003678976] |
Chr2:209842418 [GRCh38]
Chr2:210707142 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1200+9A>T |
single nucleotide variant |
not provided [RCV003721614] |
Chr2:209813850 [GRCh38]
Chr2:210678574 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.600+14C>G |
single nucleotide variant |
not provided [RCV003563902] |
Chr2:209777573 [GRCh38]
Chr2:210642297 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.207C>T (p.Ile69=) |
single nucleotide variant |
not provided [RCV003565341] |
Chr2:209775954 [GRCh38]
Chr2:210640678 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6072G>C (p.Leu2024=) |
single nucleotide variant |
not provided [RCV003681241] |
Chr2:209933899 [GRCh38]
Chr2:210798623 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.583C>T (p.Leu195=) |
single nucleotide variant |
not provided [RCV003853774] |
Chr2:209777542 [GRCh38]
Chr2:210642266 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3954G>A (p.Glu1318=) |
single nucleotide variant |
not provided [RCV003684446] |
Chr2:209878067 [GRCh38]
Chr2:210742791 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7295T>A (p.Met2432Lys) |
single nucleotide variant |
not provided [RCV003684456] |
Chr2:209954108 [GRCh38]
Chr2:210818832 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7545C>T (p.Asn2515=) |
single nucleotide variant |
not provided [RCV003870753] |
Chr2:209957731 [GRCh38]
Chr2:210822455 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6102C>G (p.Leu2034=) |
single nucleotide variant |
not provided [RCV003728877] |
Chr2:209933929 [GRCh38]
Chr2:210798653 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9522A>G (p.Arg3174=) |
single nucleotide variant |
not provided [RCV003707014] |
Chr2:209994078 [GRCh38]
Chr2:210858802 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.804C>T (p.Leu268=) |
single nucleotide variant |
not provided [RCV003685411] |
Chr2:209793725 [GRCh38]
Chr2:210658449 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.543C>T (p.Ser181=) |
single nucleotide variant |
not provided [RCV003685410] |
Chr2:209777502 [GRCh38]
Chr2:210642226 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1553-19G>A |
single nucleotide variant |
not provided [RCV003541965] |
Chr2:209817793 [GRCh38]
Chr2:210682517 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1335+13G>T |
single nucleotide variant |
not provided [RCV003685651] |
Chr2:209815404 [GRCh38]
Chr2:210680128 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6987T>A (p.Ile2329=) |
single nucleotide variant |
not provided [RCV003870478] |
Chr2:209943451 [GRCh38]
Chr2:210808175 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.226G>A (p.Glu76Lys) |
single nucleotide variant |
not provided [RCV003679693] |
Chr2:209775973 [GRCh38]
Chr2:210640697 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.7332A>G (p.Leu2444=) |
single nucleotide variant |
not provided [RCV003864669] |
Chr2:209954145 [GRCh38]
Chr2:210818869 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6466-14_6466-12del |
deletion |
not provided [RCV003683637] |
Chr2:209939457..209939459 [GRCh38]
Chr2:210804181..210804183 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2370A>G (p.Leu790=) |
single nucleotide variant |
not provided [RCV003563136] |
Chr2:209825945 [GRCh38]
Chr2:210690669 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3041+13G>A |
single nucleotide variant |
not provided [RCV003820275] |
Chr2:209835023 [GRCh38]
Chr2:210699747 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1427T>C (p.Phe476Ser) |
single nucleotide variant |
not provided [RCV003860647] |
Chr2:209817000 [GRCh38]
Chr2:210681724 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6391C>A (p.Arg2131=) |
single nucleotide variant |
not provided [RCV003862595] |
Chr2:209937556 [GRCh38]
Chr2:210802280 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.4512C>T (p.Ser1504=) |
single nucleotide variant |
not provided [RCV003710345] |
Chr2:209896344 [GRCh38]
Chr2:210761068 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3828C>T (p.Tyr1276=) |
single nucleotide variant |
not provided [RCV003680948] |
Chr2:209872958 [GRCh38]
Chr2:210737682 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3628-11A>G |
single nucleotide variant |
not provided [RCV003846017] |
Chr2:209872747 [GRCh38]
Chr2:210737471 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2478+1G>A |
single nucleotide variant |
not provided [RCV003711389] |
Chr2:209826054 [GRCh38]
Chr2:210690778 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.6915+7A>G |
single nucleotide variant |
UNC80-related condition [RCV003966719]|not provided [RCV003853191] |
Chr2:209941496 [GRCh38]
Chr2:210806220 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5531-10T>C |
single nucleotide variant |
not provided [RCV003728188] |
Chr2:209922242 [GRCh38]
Chr2:210786966 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7620C>T (p.Gly2540=) |
single nucleotide variant |
not provided [RCV003565801] |
Chr2:209959522 [GRCh38]
Chr2:210824246 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9132C>T (p.Ser3044=) |
single nucleotide variant |
not provided [RCV003679855] |
Chr2:209982192 [GRCh38]
Chr2:210846916 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2478+15G>C |
single nucleotide variant |
not provided [RCV003554585] |
Chr2:209826068 [GRCh38]
Chr2:210690792 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3894del (p.Asn1299fs) |
deletion |
not provided [RCV003554586] |
Chr2:209878006 [GRCh38]
Chr2:210742730 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.3105C>T (p.Ser1035=) |
single nucleotide variant |
not provided [RCV003861367] |
Chr2:209839285 [GRCh38]
Chr2:210704009 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2016C>T (p.Ile672=) |
single nucleotide variant |
not provided [RCV003679912] |
Chr2:209820364 [GRCh38]
Chr2:210685088 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.6475C>T (p.Arg2159Ter) |
single nucleotide variant |
not provided [RCV003674720] |
Chr2:209939481 [GRCh38]
Chr2:210804205 [GRCh37]
Chr2:2q34 |
pathogenic |
| NM_001371986.1(UNC80):c.6465+8A>G |
single nucleotide variant |
not provided [RCV003864385] |
Chr2:209937638 [GRCh38]
Chr2:210802362 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.9708+12A>G |
single nucleotide variant |
not provided [RCV003683059] |
Chr2:209994276 [GRCh38]
Chr2:210859000 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.724+19C>T |
single nucleotide variant |
not provided [RCV003710786] |
Chr2:209786208 [GRCh38]
Chr2:210650932 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5799A>G (p.Gly1933=) |
single nucleotide variant |
not provided [RCV003676244] |
Chr2:209926979 [GRCh38]
Chr2:210791703 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.6465+13G>A |
single nucleotide variant |
not provided [RCV003859714] |
Chr2:209937643 [GRCh38]
Chr2:210802367 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2627-15G>A |
single nucleotide variant |
not provided [RCV003708331] |
Chr2:209831428 [GRCh38]
Chr2:210696152 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5862G>A (p.Thr1954=) |
single nucleotide variant |
not provided [RCV003824237] |
Chr2:209929926 [GRCh38]
Chr2:210794650 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.321T>A (p.Val107=) |
single nucleotide variant |
not provided [RCV003680453] |
Chr2:209777280 [GRCh38]
Chr2:210642004 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2942+19C>T |
single nucleotide variant |
not provided [RCV003705645] |
Chr2:209834187 [GRCh38]
Chr2:210698911 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1587C>T (p.Ala529=) |
single nucleotide variant |
not provided [RCV003712495] |
Chr2:209817846 [GRCh38]
Chr2:210682570 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4482A>G (p.Glu1494=) |
single nucleotide variant |
not provided [RCV003568067] |
Chr2:209896314 [GRCh38]
Chr2:210761038 [GRCh37]
Chr2:2q34 |
uncertain significance |
| NM_001371986.1(UNC80):c.2627-8C>T |
single nucleotide variant |
not provided [RCV003681635] |
Chr2:209831435 [GRCh38]
Chr2:210696159 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3099C>T (p.Phe1033=) |
single nucleotide variant |
not provided [RCV003820181] |
Chr2:209839279 [GRCh38]
Chr2:210704003 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.141+7G>C |
single nucleotide variant |
not provided [RCV003677504] |
Chr2:209773149 [GRCh38]
Chr2:210637873 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5662+9T>C |
single nucleotide variant |
not provided [RCV003821389] |
Chr2:209922392 [GRCh38]
Chr2:210787116 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4488T>C (p.Ser1496=) |
single nucleotide variant |
not provided [RCV003845039] |
Chr2:209896320 [GRCh38]
Chr2:210761044 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2421T>C (p.Gly807=) |
single nucleotide variant |
not provided [RCV003727446] |
Chr2:209825996 [GRCh38]
Chr2:210690720 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.7586+10G>A |
single nucleotide variant |
not provided [RCV003554986] |
Chr2:209959164 [GRCh38]
Chr2:210823888 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.5344-11T>C |
single nucleotide variant |
not provided [RCV003675153] |
Chr2:209921489 [GRCh38]
Chr2:210786213 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8776C>T (p.Leu2926=) |
single nucleotide variant |
UNC80-related condition [RCV003956457]|not provided [RCV003677587] |
Chr2:209976916 [GRCh38]
Chr2:210841640 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2479-5T>C |
single nucleotide variant |
not provided [RCV003568181] |
Chr2:209829227 [GRCh38]
Chr2:210693951 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3358-20_3358-19insA |
insertion |
not provided [RCV003552056] |
Chr2:209842330..209842331 [GRCh38]
Chr2:210707054..210707055 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1077G>A (p.Leu359=) |
single nucleotide variant |
not provided [RCV003710077] |
Chr2:209813718 [GRCh38]
Chr2:210678442 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8394G>A (p.Leu2798=) |
single nucleotide variant |
not provided [RCV003541972] |
Chr2:209973077 [GRCh38]
Chr2:210837801 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8939-1G>A |
single nucleotide variant |
not provided [RCV003676613] |
Chr2:209978528 [GRCh38]
Chr2:210843252 [GRCh37]
Chr2:2q34 |
likely pathogenic |
| NM_001371986.1(UNC80):c.477G>A (p.Gly159=) |
single nucleotide variant |
not provided [RCV003677621] |
Chr2:209777436 [GRCh38]
Chr2:210642160 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2664C>T (p.Asp888=) |
single nucleotide variant |
not provided [RCV003733029] |
Chr2:209831480 [GRCh38]
Chr2:210696204 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3237T>A (p.Leu1079=) |
single nucleotide variant |
not provided [RCV003675313] |
Chr2:209839417 [GRCh38]
Chr2:210704141 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4890+10C>T |
single nucleotide variant |
not provided [RCV003705873] |
Chr2:209912677 [GRCh38]
Chr2:210777401 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3840+20C>T |
single nucleotide variant |
not provided [RCV003709841] |
Chr2:209872990 [GRCh38]
Chr2:210737714 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1020G>T (p.Gln340His) |
single nucleotide variant |
UNC80-related condition [RCV003952075] |
Chr2:209813661 [GRCh38]
Chr2:210678385 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.8244A>G (p.Ala2748=) |
single nucleotide variant |
UNC80-related condition [RCV003893948] |
Chr2:209970945 [GRCh38]
Chr2:210835669 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.2700C>T (p.Ile900=) |
single nucleotide variant |
UNC80-related condition [RCV003914766] |
Chr2:209831516 [GRCh38]
Chr2:210696240 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4926A>G (p.Leu1642=) |
single nucleotide variant |
UNC80-related condition [RCV003929411] |
Chr2:209913837 [GRCh38]
Chr2:210778561 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.601-8C>T |
single nucleotide variant |
UNC80-related condition [RCV003956979] |
Chr2:209786058 [GRCh38]
Chr2:210650782 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.4726C>T (p.Leu1576=) |
single nucleotide variant |
UNC80-related condition [RCV003927401] |
Chr2:209904909 [GRCh38]
Chr2:210769633 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.3977-5C>A |
single nucleotide variant |
UNC80-related condition [RCV003981401] |
Chr2:209880956 [GRCh38]
Chr2:210745680 [GRCh37]
Chr2:2q34 |
likely benign |
| NM_001371986.1(UNC80):c.1021C>T (p.Pro341Ser) |
single nucleotide variant |
UNC80-related condition [RCV003959039] |
Chr2:209813662 [GRCh38]
Chr2:210678386 [GRCh37]
Chr2:2q34 |
likely benign |
