NM_001982.4(ERBB3):c.1184-9A>G |
single nucleotide variant |
Lethal congenital contracture syndrome 2 [RCV000013400] |
Chr12:56092977 [GRCh38] Chr12:56486761 [GRCh37] Chr12:12q13.2 |
pathogenic |
NM_001982.3(ERBB3):c.1638G>A (p.Glu546=) |
single nucleotide variant |
Malignant melanoma [RCV000070107] |
Chr12:56094123 [GRCh38] Chr12:56487907 [GRCh37] Chr12:54774174 [NCBI36] Chr12:12q13.2 |
not provided |
NM_001982.3(ERBB3):c.1639G>A (p.Ala547Thr) |
single nucleotide variant |
Malignant melanoma [RCV000070108] |
Chr12:56094124 [GRCh38] Chr12:56487908 [GRCh37] Chr12:54774175 [NCBI36] Chr12:12q13.2 |
not provided |
NM_001982.4(ERBB3):c.3789G>A (p.Met1263Ile) |
single nucleotide variant |
not provided [RCV001508695] |
Chr12:56101815 [GRCh38] Chr12:56495599 [GRCh37] Chr12:54781866 [NCBI36] Chr12:12q13.2 |
uncertain significance|not provided |
NM_001982.3(ERBB3):c.3145A>G (p.Ser1049Gly) |
single nucleotide variant |
Malignant melanoma [RCV000062558] |
Chr12:56100189 [GRCh38] Chr12:56493973 [GRCh37] Chr12:54780240 [NCBI36] Chr12:12q13.2 |
not provided |
NM_001982.4(ERBB3):c.2802G>C (p.Gln934His) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149124] |
Chr12:56098868 [GRCh38] Chr12:56492652 [GRCh37] Chr12:12q13.2 |
uncertain significance |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3 |
copy number gain |
See cases [RCV000141435] |
Chr12:53420606..56202942 [GRCh38] Chr12:53814390..56596726 [GRCh37] Chr12:52100657..54882993 [NCBI36] Chr12:12q13.13-13.3 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr) |
single nucleotide variant |
Erythroleukemia, familial, susceptibility to [RCV000239667]|not specified [RCV003323478] |
Chr12:56102035 [GRCh38] Chr12:56495819 [GRCh37] Chr12:12q13.2 |
likely pathogenic|uncertain significance |
NM_001982.4(ERBB3):c.221T>G (p.Leu74Arg) |
single nucleotide variant |
not provided [RCV000722675] |
Chr12:56083889 [GRCh38] Chr12:56477673 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.3567AGA[2] (p.Glu1191del) |
microsatellite |
Lethal congenital contracture syndrome 1 [RCV000626162] |
Chr12:56101591..56101593 [GRCh38] Chr12:56495375..56495377 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.2274+1G>A |
single nucleotide variant |
not provided [RCV000415949] |
Chr12:56096847 [GRCh38] Chr12:56490631 [GRCh37] Chr12:12q13.2 |
likely pathogenic |
GRCh37/hg19 12q13.2(chr12:55975308-56593032)x3 |
copy number gain |
See cases [RCV000446219] |
Chr12:55975308..56593032 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.890A>T (p.Asp297Val) |
single nucleotide variant |
Breast neoplasm [RCV000435426]|Gastric adenocarcinoma [RCV000434468]|Malignant neoplasm of body of uterus [RCV000442973]|Transitional cell carcinoma of the bladder [RCV000427382]|Uterine carcinosarcoma [RCV000441987] |
Chr12:56088558 [GRCh38] Chr12:56482342 [GRCh37] Chr12:12q13.2 |
likely pathogenic |
NM_001982.4(ERBB3):c.310G>T (p.Val104Leu) |
single nucleotide variant |
Breast neoplasm [RCV000425620]|Gallbladder carcinoma [RCV000432050]|Gastric adenocarcinoma [RCV000443475]|Malignant neoplasm of body of uterus [RCV000443618]|Neoplasm of the large intestine [RCV000424621]|Neoplasm of uterine cervix [RCV000443705]|Transitional cell carcinoma of the bladder [RCV000421354]|Uterine carcinosarcoma [RCV000436217] |
Chr12:56085070 [GRCh38] Chr12:56478854 [GRCh37] Chr12:12q13.2 |
likely pathogenic |
NM_001982.4(ERBB3):c.785C>A (p.Pro262His) |
single nucleotide variant |
Neoplasm [RCV000424878] |
Chr12:56088073 [GRCh38] Chr12:56481857 [GRCh37] Chr12:12q13.2 |
likely pathogenic |
NM_001982.4(ERBB3):c.2426A>G (p.Gln809Arg) |
single nucleotide variant |
Neoplasm [RCV000435577] |
Chr12:56097196 [GRCh38] Chr12:56490980 [GRCh37] Chr12:12q13.2 |
likely pathogenic |
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) |
single nucleotide variant |
Breast neoplasm [RCV000429939]|Gallbladder carcinoma [RCV000441492]|Gastric adenocarcinoma [RCV000418579]|Malignant neoplasm of body of uterus [RCV000434002]|Malignant tumor of urinary bladder [RCV003332171]|Neoplasm of the large intestine [RCV000430165]|Neoplasm of uterine cervix [RCV000424151]|Transitional cell carcinoma of the bladder [RCV000440793]|Uterine carcinosarcoma [RCV000422734] |
Chr12:56085070 [GRCh38] Chr12:56478854 [GRCh37] Chr12:12q13.2 |
pathogenic|likely pathogenic |
NM_001982.4(ERBB3):c.889G>A (p.Asp297Asn) |
single nucleotide variant |
Breast neoplasm [RCV000435793]|Gastric adenocarcinoma [RCV000429499]|Malignant neoplasm of body of uterus [RCV000424484]|Transitional cell carcinoma of the bladder [RCV000435185]|Uterine carcinosarcoma [RCV000418815] |
Chr12:56088557 [GRCh38] Chr12:56482341 [GRCh37] Chr12:12q13.2 |
likely pathogenic |
NM_001982.4(ERBB3):c.889G>T (p.Asp297Tyr) |
single nucleotide variant |
Breast neoplasm [RCV000440744]|Gastric adenocarcinoma [RCV000423102]|Malignant neoplasm of body of uterus [RCV000433369]|Transitional cell carcinoma of the bladder [RCV000424195]|Uterine carcinosarcoma [RCV000443967] |
Chr12:56088557 [GRCh38] Chr12:56482341 [GRCh37] Chr12:12q13.2 |
likely pathogenic |
NM_001982.4(ERBB3):c.850G>A (p.Gly284Arg) |
single nucleotide variant |
Colonic neoplasm [RCV000430351]|Neoplasm of stomach [RCV000440625] |
Chr12:56088138 [GRCh38] Chr12:56481922 [GRCh37] Chr12:12q13.2 |
likely pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_001982.4(ERBB3):c.2938-3_2938-2del |
microsatellite |
Lethal congenital contracture syndrome 2 [RCV003317818] |
Chr12:56099832..56099833 [GRCh38] Chr12:56493616..56493617 [GRCh37] Chr12:12q13.2 |
likely pathogenic |
NM_001982.4(ERBB3):c.2695G>A (p.Val899Met) |
single nucleotide variant |
Visceral neuropathy, familial, 1, autosomal recessive [RCV001799812] |
Chr12:56098761 [GRCh38] Chr12:56492545 [GRCh37] Chr12:12q13.2 |
pathogenic|likely pathogenic |
NM_001982.4(ERBB3):c.83-46G>T |
single nucleotide variant |
not provided [RCV001540066] |
Chr12:56083705 [GRCh38] Chr12:56477489 [GRCh37] Chr12:12q13.2 |
benign |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_001982.4(ERBB3):c.2617-239_2617-238del |
deletion |
not provided [RCV001643367] |
Chr12:56098249..56098250 [GRCh38] Chr12:56492033..56492034 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.3355A>T (p.Ser1119Cys) |
single nucleotide variant |
not provided [RCV001535328] |
Chr12:56101214 [GRCh38] Chr12:56494998 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.3811G>A (p.Gly1271Ser) |
single nucleotide variant |
not provided [RCV000897308] |
Chr12:56101837 [GRCh38] Chr12:56495621 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.421+123G>T |
single nucleotide variant |
not provided [RCV000761833] |
Chr12:56085304 [GRCh38] Chr12:56479088 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.1914-7C>G |
single nucleotide variant |
Visceral neuropathy, familial, 1, autosomal recessive [RCV003313825] |
Chr12:56095658 [GRCh38] Chr12:56489442 [GRCh37] Chr12:12q13.2 |
pathogenic |
NM_001982.4(ERBB3):c.3297del (p.His1100fs) |
deletion |
Visceral neuropathy, familial, 1, autosomal recessive [RCV001799810] |
Chr12:56101153 [GRCh38] Chr12:56494937 [GRCh37] Chr12:12q13.2 |
pathogenic |
NM_001982.4(ERBB3):c.89C>T (p.Pro30Leu) |
single nucleotide variant |
not provided [RCV000994933] |
Chr12:56083757 [GRCh38] Chr12:56477541 [GRCh37] Chr12:12q13.2 |
likely benign|uncertain significance |
NM_001982.4(ERBB3):c.3229C>T (p.Arg1077Trp) |
single nucleotide variant |
not provided [RCV000994934] |
Chr12:56101088 [GRCh38] Chr12:56494872 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.1209G>A (p.Pro403=) |
single nucleotide variant |
not provided [RCV000927364] |
Chr12:56093011 [GRCh38] Chr12:56486795 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.231G>A (p.Leu77=) |
single nucleotide variant |
not provided [RCV000926604] |
Chr12:56083899 [GRCh38] Chr12:56477683 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.3391G>A (p.Ala1131Thr) |
single nucleotide variant |
not provided [RCV000973490] |
Chr12:56101250 [GRCh38] Chr12:56495034 [GRCh37] Chr12:12q13.2 |
benign|likely benign |
NM_001982.4(ERBB3):c.2532A>T (p.Ser844=) |
single nucleotide variant |
not provided [RCV000936635] |
Chr12:56097856 [GRCh38] Chr12:56491640 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.78G>A (p.Gln26=) |
single nucleotide variant |
not provided [RCV000884340] |
Chr12:56080378 [GRCh38] Chr12:56474162 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.258T>C (p.Tyr86=) |
single nucleotide variant |
not provided [RCV000916183] |
Chr12:56085018 [GRCh38] Chr12:56478802 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.2359A>C (p.Thr787Pro) |
single nucleotide variant |
Visceral neuropathy, familial, 1, autosomal recessive [RCV001799811] |
Chr12:56097129 [GRCh38] Chr12:56490913 [GRCh37] Chr12:12q13.2 |
pathogenic|likely pathogenic |
NM_001982.4(ERBB3):c.2241G>C (p.Lys747Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003166073]|Lethal congenital contracture syndrome 2 [RCV000784951] |
Chr12:56096813 [GRCh38] Chr12:56490597 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.3471C>T (p.Asn1157=) |
single nucleotide variant |
not provided [RCV000895743] |
Chr12:56101330 [GRCh38] Chr12:56495114 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.1467G>A (p.Pro489=) |
single nucleotide variant |
not provided [RCV000980810] |
Chr12:56093537 [GRCh38] Chr12:56487321 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.3369C>T (p.Ser1123=) |
single nucleotide variant |
not provided [RCV000923345] |
Chr12:56101228 [GRCh38] Chr12:56495012 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.3529C>A (p.Leu1177Ile) |
single nucleotide variant |
not provided [RCV000888138] |
Chr12:56101555 [GRCh38] Chr12:56495339 [GRCh37] Chr12:12q13.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_001982.4(ERBB3):c.1154A>G (p.Asn385Ser) |
single nucleotide variant |
not provided [RCV000897307] |
Chr12:56092791 [GRCh38] Chr12:56486575 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.2942_2945del |
microsatellite |
Visceral neuropathy, familial, 1, autosomal recessive [RCV003313826] |
Chr12:56099836..56099839 [GRCh38] Chr12:56493620..56493623 [GRCh37] Chr12:12q13.2 |
pathogenic |
NM_001982.4(ERBB3):c.1543G>A (p.Gly515Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003270776] |
Chr12:56093826 [GRCh38] Chr12:56487610 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.1614-10C>T |
single nucleotide variant |
not provided [RCV000979257] |
Chr12:56094089 [GRCh38] Chr12:56487873 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.3425C>T (p.Pro1142Leu) |
single nucleotide variant |
Lethal congenital contracture syndrome 2 [RCV000985171]|not provided [RCV003145245] |
Chr12:56101284 [GRCh38] Chr12:56495068 [GRCh37] Chr12:12q13.2 |
likely pathogenic|uncertain significance |
NM_001982.4(ERBB3):c.235-172G>A |
single nucleotide variant |
not provided [RCV001722969] |
Chr12:56084823 [GRCh38] Chr12:56478607 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.235-97A>G |
single nucleotide variant |
not provided [RCV001608584] |
Chr12:56084898 [GRCh38] Chr12:56478682 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.2616+16G>C |
single nucleotide variant |
Lethal congenital contracture syndrome 2 [RCV001661291]|Visceral neuropathy, familial [RCV001661292]|not provided [RCV001751807] |
Chr12:56097956 [GRCh38] Chr12:56491740 [GRCh37] Chr12:12q13.2 |
benign|likely benign |
NM_001982.4(ERBB3):c.2616+261A>G |
single nucleotide variant |
not provided [RCV001654241] |
Chr12:56098201 [GRCh38] Chr12:56491985 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.3348G>A (p.Arg1116=) |
single nucleotide variant |
Lethal congenital contracture syndrome 2 [RCV001658383]|Visceral neuropathy, familial [RCV001658384]|not provided [RCV001654523] |
Chr12:56101207 [GRCh38] Chr12:56494991 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.235-165A>G |
single nucleotide variant |
not provided [RCV001680332] |
Chr12:56084830 [GRCh38] Chr12:56478614 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.3289T>C (p.Ser1097Pro) |
single nucleotide variant |
not provided [RCV000885555] |
Chr12:56101148 [GRCh38] Chr12:56494932 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.3380G>A (p.Arg1127His) |
single nucleotide variant |
not provided [RCV000885647] |
Chr12:56101239 [GRCh38] Chr12:56495023 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.2041T>C (p.Leu681=) |
single nucleotide variant |
not provided [RCV000909567] |
Chr12:56095792 [GRCh38] Chr12:56489576 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.422-7A>T |
single nucleotide variant |
not provided [RCV000962262] |
Chr12:56086524 [GRCh38] Chr12:56480308 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.1590G>C (p.Val530=) |
single nucleotide variant |
not provided [RCV000911222] |
Chr12:56093873 [GRCh38] Chr12:56487657 [GRCh37] Chr12:12q13.2 |
benign|likely benign |
NM_001982.4(ERBB3):c.3129+9A>C |
single nucleotide variant |
Lethal congenital contracture syndrome 2 [RCV001658316]|Visceral neuropathy, familial [RCV001658317]|not provided [RCV001613774] |
Chr12:56100038 [GRCh38] Chr12:56493822 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.547+34C>A |
single nucleotide variant |
not provided [RCV001676383] |
Chr12:56086690 [GRCh38] Chr12:56480474 [GRCh37] Chr12:12q13.2 |
benign |
NC_000012.12:g.56080024T>C |
single nucleotide variant |
not provided [RCV001717261] |
Chr12:56080024 [GRCh38] Chr12:56473808 [GRCh37] Chr12:12q13.2 |
benign |
NC_000012.12:g.56079996G>A |
single nucleotide variant |
not provided [RCV001619505] |
Chr12:56079996 [GRCh38] Chr12:56473780 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.82+213T>C |
single nucleotide variant |
not provided [RCV001717342] |
Chr12:56080595 [GRCh38] Chr12:56474379 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.1860-293dup |
duplication |
not provided [RCV001598048] |
Chr12:56094951..56094952 [GRCh38] Chr12:56488735..56488736 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.1109+207G>A |
single nucleotide variant |
not provided [RCV001663316] |
Chr12:56089075 [GRCh38] Chr12:56482859 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.2616+156T>G |
single nucleotide variant |
not provided [RCV001717274] |
Chr12:56098096 [GRCh38] Chr12:56491880 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.235-121A>C |
single nucleotide variant |
not provided [RCV001598843] |
Chr12:56084874 [GRCh38] Chr12:56478658 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.2617-238del |
deletion |
not provided [RCV001677396] |
Chr12:56098249 [GRCh38] Chr12:56492033 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.1860-128G>A |
single nucleotide variant |
not provided [RCV001636068] |
Chr12:56095129 [GRCh38] Chr12:56488913 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.234+8A>T |
single nucleotide variant |
Lethal congenital contracture syndrome 2 [RCV001661289]|Visceral neuropathy, familial [RCV001661290]|not provided [RCV001713672] |
Chr12:56083910 [GRCh38] Chr12:56477694 [GRCh37] Chr12:12q13.2 |
benign |
NC_000012.12:g.56080106T>A |
single nucleotide variant |
not provided [RCV001691727] |
Chr12:56080106 [GRCh38] Chr12:56473890 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.875-147T>G |
single nucleotide variant |
not provided [RCV001650211] |
Chr12:56088396 [GRCh38] Chr12:56482180 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.234+316A>C |
single nucleotide variant |
not provided [RCV001709943] |
Chr12:56084218 [GRCh38] Chr12:56478002 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.547+208G>A |
single nucleotide variant |
not provided [RCV001681455] |
Chr12:56086864 [GRCh38] Chr12:56480648 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.3502+17A>C |
single nucleotide variant |
not provided [RCV001614886] |
Chr12:56101378 [GRCh38] Chr12:56495162 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.1347T>C (p.Ile449=) |
single nucleotide variant |
not provided [RCV001684113] |
Chr12:56093417 [GRCh38] Chr12:56487201 [GRCh37] Chr12:12q13.2 |
benign |
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3 |
copy number gain |
not provided [RCV001006505] |
Chr12:55552371..62126304 [GRCh37] Chr12:12q13.2-14.1 |
pathogenic |
GRCh37/hg19 12q13.2(chr12:56333246-56558418)x3 |
copy number gain |
not provided [RCV001259615] |
Chr12:56333246..56558418 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.1253T>C (p.Ile418Thr) |
single nucleotide variant |
Lethal congenital contracture syndrome 2 [RCV001257435] |
Chr12:56093055 [GRCh38] Chr12:56486839 [GRCh37] Chr12:12q13.2 |
likely pathogenic |
NM_001982.4(ERBB3):c.3944del (p.Ser1315fs) |
deletion |
Lethal congenital contracture syndrome 2 [RCV001332068] |
Chr12:56101970 [GRCh38] Chr12:56495754 [GRCh37] Chr12:12q13.2 |
pathogenic |
NM_001982.4(ERBB3):c.1530G>A (p.Trp510Ter) |
single nucleotide variant |
Lethal congenital contracture syndrome 2 [RCV001336414] |
Chr12:56093813 [GRCh38] Chr12:56487597 [GRCh37] Chr12:12q13.2 |
pathogenic |
NM_001982.4(ERBB3):c.4027dup (p.Ter1343LeuextTer?) |
duplication |
Lethal congenital contracture syndrome 2 [RCV001336415] |
Chr12:56102052..56102053 [GRCh38] Chr12:56495836..56495837 [GRCh37] Chr12:12q13.2 |
pathogenic |
NM_001982.4(ERBB3):c.2993A>G (p.Lys998Arg) |
single nucleotide variant |
not provided [RCV001508693] |
Chr12:56099893 [GRCh38] Chr12:56493677 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.532G>A (p.Asp178Asn) |
single nucleotide variant |
not provided [RCV001508691] |
Chr12:56086641 [GRCh38] Chr12:56480425 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.2107A>C (p.Ile703Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003161039]|not provided [RCV001508692] |
Chr12:56096554 [GRCh38] Chr12:56490338 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.3503-7C>T |
single nucleotide variant |
not provided [RCV001670398] |
Chr12:56101522 [GRCh38] Chr12:56495306 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.547+143G>A |
single nucleotide variant |
not provided [RCV001539417] |
Chr12:56086799 [GRCh38] Chr12:56480583 [GRCh37] Chr12:12q13.2 |
benign |
NM_001982.4(ERBB3):c.3757G>A (p.Gly1253Ser) |
single nucleotide variant |
not provided [RCV001508694] |
Chr12:56101783 [GRCh38] Chr12:56495567 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.422-229C>T |
single nucleotide variant |
not provided [RCV001769845] |
Chr12:56086302 [GRCh38] Chr12:56480086 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.547+326A>T |
single nucleotide variant |
not provided [RCV001774943] |
Chr12:56086982 [GRCh38] Chr12:56480766 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.732+38G>C |
single nucleotide variant |
not provided [RCV001774945] |
Chr12:56087951 [GRCh38] Chr12:56481735 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001005915.1(ERBB3):c.-193A>T |
single nucleotide variant |
not provided [RCV001774920] |
Chr12:56080108 [GRCh38] Chr12:56473892 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.421+249C>T |
single nucleotide variant |
not provided [RCV001753157] |
Chr12:56085430 [GRCh38] Chr12:56479214 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.1109+202A>G |
single nucleotide variant |
not provided [RCV001759356] |
Chr12:56089070 [GRCh38] Chr12:56482854 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.733-30A>G |
single nucleotide variant |
not provided [RCV001766202] |
Chr12:56087991 [GRCh38] Chr12:56481775 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.2460+202del |
deletion |
not provided [RCV001768097] |
Chr12:56097432 [GRCh38] Chr12:56491216 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.2839+282C>G |
single nucleotide variant |
not provided [RCV001757647] |
Chr12:56099187 [GRCh38] Chr12:56492971 [GRCh37] Chr12:12q13.2 |
likely benign |
NC_000012.11:g.(?_56396006)_(56750355_?)dup |
duplication |
Sulfite oxidase deficiency [RCV001913847] |
Chr12:56396006..56750355 [GRCh37] Chr12:12q13.2-13.3 |
uncertain significance |
GRCh37/hg19 12q13.2-13.3(chr12:56333262-57010442) |
copy number gain |
not specified [RCV002052997] |
Chr12:56333262..57010442 [GRCh37] Chr12:12q13.2-13.3 |
uncertain significance |
GRCh37/hg19 12q13.2(chr12:55975308-56593032) |
copy number gain |
not specified [RCV002052996] |
Chr12:55975308..56593032 [GRCh37] Chr12:12q13.2 |
uncertain significance |
Single allele |
duplication |
not specified [RCV002286382] |
Chr12:55986511..56885590 [GRCh38] Chr12:12q13.2-13.3 |
uncertain significance |
NM_001982.4(ERBB3):c.3344G>T (p.Cys1115Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002860409] |
Chr12:56101203 [GRCh38] Chr12:56494987 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.124G>A (p.Ala42Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002992518] |
Chr12:56083792 [GRCh38] Chr12:56477576 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.290T>C (p.Leu97Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002836920] |
Chr12:56085050 [GRCh38] Chr12:56478834 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.1703C>G (p.Ser568Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002860908] |
Chr12:56094188 [GRCh38] Chr12:56487972 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.394C>T (p.Arg132Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002739048] |
Chr12:56085154 [GRCh38] Chr12:56478938 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.1468C>T (p.Arg490Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002757133] |
Chr12:56093538 [GRCh38] Chr12:56487322 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.2615A>T (p.Lys872Met) |
single nucleotide variant |
Lethal congenital contracture syndrome 2 [RCV002795930] |
Chr12:56097939 [GRCh38] Chr12:56491723 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.1099G>A (p.Gly367Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002737750] |
Chr12:56088858 [GRCh38] Chr12:56482642 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.829C>T (p.His277Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002708626] |
Chr12:56088117 [GRCh38] Chr12:56481901 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.2920C>T (p.Arg974Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002709504] |
Chr12:56099728 [GRCh38] Chr12:56493512 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.1574G>C (p.Arg525Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002850327] |
Chr12:56093857 [GRCh38] Chr12:56487641 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.1181C>A (p.Thr394Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002915399] |
Chr12:56092818 [GRCh38] Chr12:56486602 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.2212C>G (p.Pro738Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002984430] |
Chr12:56096784 [GRCh38] Chr12:56490568 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.1390T>C (p.Tyr464His) |
single nucleotide variant |
Inborn genetic diseases [RCV002656588] |
Chr12:56093460 [GRCh38] Chr12:56487244 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.3760A>G (p.Thr1254Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002679963] |
Chr12:56101786 [GRCh38] Chr12:56495570 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.1466C>T (p.Pro489Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003180839] |
Chr12:56093536 [GRCh38] Chr12:56487320 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.121G>A (p.Asp41Asn) |
single nucleotide variant |
not provided [RCV003147108] |
Chr12:56083789 [GRCh38] Chr12:56477573 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.2050G>A (p.Gly684Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003204200] |
Chr12:56095801 [GRCh38] Chr12:56489585 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.3674T>C (p.Met1225Thr) |
single nucleotide variant |
not provided [RCV003147105] |
Chr12:56101700 [GRCh38] Chr12:56495484 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.1540_1543delinsATCA (p.Pro514_Gly515delinsIleSer) |
indel |
not provided [RCV003147106] |
Chr12:56093823..56093826 [GRCh38] Chr12:56487607..56487610 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.3679G>A (p.Val1227Met) |
single nucleotide variant |
not provided [RCV003147107] |
Chr12:56101705 [GRCh38] Chr12:56495489 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.776G>A (p.Cys259Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003309012] |
Chr12:56088064 [GRCh38] Chr12:56481848 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.1219C>T (p.His407Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003285558] |
Chr12:56093021 [GRCh38] Chr12:56486805 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.650A>C (p.His217Pro) |
single nucleotide variant |
Lethal congenital contracture syndrome 2 [RCV003337982] |
Chr12:56087831 [GRCh38] Chr12:56481615 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.3328G>A (p.Glu1110Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003346025] |
Chr12:56101187 [GRCh38] Chr12:56494971 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.1117T>C (p.Trp373Arg) |
single nucleotide variant |
ERBB3-related condition [RCV003419214] |
Chr12:56092754 [GRCh38] Chr12:56486538 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.2782G>A (p.Glu928Lys) |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV003332948] |
Chr12:56098848 [GRCh38] Chr12:56492632 [GRCh37] Chr12:12q13.2 |
pathogenic |
NM_001982.4(ERBB3):c.3727C>A (p.Leu1243Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003373840] |
Chr12:56101753 [GRCh38] Chr12:56495537 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.307C>T (p.Arg103Cys) |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV003332947] |
Chr12:56085067 [GRCh38] Chr12:56478851 [GRCh37] Chr12:12q13.2 |
pathogenic |
NM_001982.4(ERBB3):c.180G>A (p.Met60Ile) |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV003332988] |
Chr12:56083848 [GRCh38] Chr12:56477632 [GRCh37] Chr12:12q13.2 |
pathogenic |
NM_001982.4(ERBB3):c.3557T>C (p.Leu1186Pro) |
single nucleotide variant |
not provided [RCV003482073] |
Chr12:56101583 [GRCh38] Chr12:56495367 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.611C>T (p.Thr204Ile) |
single nucleotide variant |
not provided [RCV003391873] |
Chr12:56087640 [GRCh38] Chr12:56481424 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.2607T>C (p.Ser869=) |
single nucleotide variant |
not provided [RCV003391874] |
Chr12:56097931 [GRCh38] Chr12:56491715 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_001982.4(ERBB3):c.3466G>A (p.Val1156Ile) |
single nucleotide variant |
not provided [RCV003482072] |
Chr12:56101325 [GRCh38] Chr12:56495109 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.1881_1891del (p.Asp628fs) |
deletion |
ERBB3-related condition [RCV003405841] |
Chr12:56095278..56095288 [GRCh38] Chr12:56489062..56489072 [GRCh37] Chr12:12q13.2 |
likely pathogenic |
NM_001982.4(ERBB3):c.1663G>C (p.Glu555Gln) |
single nucleotide variant |
not provided [RCV003482071] |
Chr12:56094148 [GRCh38] Chr12:56487932 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_001982.4(ERBB3):c.1330C>T (p.Arg444Ter) |
single nucleotide variant |
ERBB3-related condition [RCV003410370] |
Chr12:56093400 [GRCh38] Chr12:56487184 [GRCh37] Chr12:12q13.2 |
likely pathogenic |
NM_001982.4(ERBB3):c.3202-2A>G |
single nucleotide variant |
Lethal congenital contracture syndrome 2 [RCV003388436] |
Chr12:56101059 [GRCh38] Chr12:56494843 [GRCh37] Chr12:12q13.2 |
likely pathogenic |