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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). | Kjaer KW, etal., J Med Genet. 2005 Apr;42(4):292-8. |
3. | Expression of P-cadherin distinct from that of E-cadherin in re-epithelialization in neonatal rat skin. | Koizumi M, etal., Dev Growth Differ. 2005 Feb;47(2):75-85. |
4. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
5. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
6. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
7. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:1427864 | PMID:1924379 | PMID:2702654 | PMID:2793940 | PMID:7534041 | PMID:7538474 | PMID:7806582 | PMID:8056851 | PMID:8074995 | PMID:8125298 | PMID:8227214 | PMID:8660921 |
PMID:9069116 | PMID:9250159 | PMID:9359492 | PMID:9615235 | PMID:9815605 | PMID:10381631 | PMID:10460003 | PMID:10655458 | PMID:10910767 | PMID:11066045 | PMID:11106563 | PMID:11401672 |
PMID:11544476 | PMID:11889072 | PMID:11891861 | PMID:11909859 | PMID:12021924 | PMID:12112590 | PMID:12417987 | PMID:12445216 | PMID:12477932 | PMID:12800191 | PMID:12876286 | PMID:12919105 |
PMID:15146197 | PMID:15375751 | PMID:15489334 | PMID:15817166 | PMID:15967043 | PMID:16007225 | PMID:16115928 | PMID:17342797 | PMID:18074863 | PMID:18199584 | PMID:18230143 | PMID:18329483 |
PMID:18330089 | PMID:18637117 | PMID:18637128 | PMID:18811693 | PMID:18829530 | PMID:18927288 | PMID:19043399 | PMID:19076794 | PMID:19469909 | PMID:19528483 | PMID:19846933 | PMID:19882246 |
PMID:19901964 | PMID:19915572 | PMID:20118984 | PMID:20140736 | PMID:20203473 | PMID:20204300 | PMID:20338046 | PMID:20385540 | PMID:20473917 | PMID:20621328 | PMID:20668551 | PMID:20844743 |
PMID:20852590 | PMID:20860798 | PMID:21317933 | PMID:21703417 | PMID:21781454 | PMID:21873635 | PMID:22209340 | PMID:22348569 | PMID:22389315 | PMID:22531681 | PMID:22613680 | PMID:22696062 |
PMID:23143461 | PMID:23180380 | PMID:23334344 | PMID:23398382 | PMID:23405208 | PMID:23682078 | PMID:23740836 | PMID:24139214 | PMID:24189400 | PMID:24559158 | PMID:24636838 | PMID:25023983 |
PMID:25269858 | PMID:25322858 | PMID:25337260 | PMID:25849494 | PMID:26285159 | PMID:26299056 | PMID:26618866 | PMID:26771841 | PMID:26885695 | PMID:27223886 | PMID:27386845 | PMID:27399126 |
PMID:27456782 | PMID:27545624 | PMID:27576135 | PMID:27684187 | PMID:28084338 | PMID:28295003 | PMID:28514442 | PMID:29161242 | PMID:29338041 | PMID:29438669 | PMID:29571991 | PMID:30006753 |
PMID:30631154 | PMID:30710256 | PMID:31560841 | PMID:31621118 | PMID:31696509 | PMID:31927556 | PMID:31932471 | PMID:31980649 | PMID:32156745 | PMID:32341236 | PMID:32572153 | PMID:32816889 |
PMID:32920119 | PMID:32988879 | PMID:33413178 | PMID:33517284 | PMID:33961781 | PMID:34216280 | PMID:34709727 | PMID:34825969 | PMID:34919784 | PMID:35305877 | PMID:35563773 | PMID:35853629 |
PMID:38003666 |
CDH3 (Homo sapiens - human) |
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Cdh3 (Mus musculus - house mouse) |
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Cdh3 (Rattus norvegicus - Norway rat) |
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Cdh3 (Chinchilla lanigera - long-tailed chinchilla) |
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CDH3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CDH3 (Canis lupus familiaris - dog) |
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Cdh3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CDH3 (Sus scrofa - pig) |
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CDH3 (Chlorocebus sabaeus - green monkey) |
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Cdh3 (Heterocephalus glaber - naked mole-rat) |
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.
Variants in CDH3
653 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_001793.6(CDH3):c.981del (p.Met327fs) | deletion | Congenital hypotrichosis with juvenile macular dystrophy [RCV000019205]|Hypotrichosis with juvenile macular dystrophy [RCV001002926] | Chr16:68681081 [GRCh38] Chr16:68714984 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.830del (p.Gly277fs) | deletion | Congenital hypotrichosis with juvenile macular dystrophy [RCV002243655]|EEM syndrome [RCV000019208]|Macular dystrophy [RCV000505148]|not provided [RCV001851938] | Chr16:68679936 [GRCh38] Chr16:68713839 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.1000G>A (p.Glu334Lys) | single nucleotide variant | not provided [RCV000729242] | Chr16:68682305 [GRCh38] Chr16:68716208 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1508G>A (p.Arg503His) | single nucleotide variant | Congenital hypotrichosis with juvenile macular dystrophy [RCV000019206]|not provided [RCV001386870] | Chr16:68685288 [GRCh38] Chr16:68719191 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.965A>T (p.Asn322Ile) | single nucleotide variant | EEM syndrome [RCV000019207] | Chr16:68681065 [GRCh38] Chr16:68714968 [GRCh37] Chr16:16q22.1 |
pathogenic |
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 | copy number gain | See cases [RCV000052405] | Chr16:56883592..71279975 [GRCh38] Chr16:56917504..71313878 [GRCh37] Chr16:55475005..69871379 [NCBI36] Chr16:16q13-22.2 |
pathogenic |
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 | copy number gain | See cases [RCV000052408] | Chr16:58456122..74708723 [GRCh38] Chr16:58490026..74742621 [GRCh37] Chr16:57047527..73300122 [NCBI36] Chr16:16q21-23.1 |
pathogenic |
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 | copy number gain | See cases [RCV000052421] | Chr16:65313395..90081985 [GRCh38] Chr16:65347298..90148393 [GRCh37] Chr16:63904799..88675894 [NCBI36] Chr16:16q21-24.3 |
pathogenic |
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] | Chr16:63318997..70555249 [GRCh38] Chr16:63352901..70589152 [GRCh37] Chr16:61910402..69146653 [NCBI36] Chr16:16q21-22.1 |
pathogenic |
GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1 | copy number loss | See cases [RCV000053337] | Chr16:68698941..74353205 [GRCh38] Chr16:68732844..74387103 [GRCh37] Chr16:67290345..72944604 [NCBI36] Chr16:16q22.1-23.1 |
pathogenic |
GRCh38/hg38 16q22.1(chr16:68611956-68888428)x3 | copy number gain | See cases [RCV000053866] | Chr16:68611956..68888428 [GRCh38] Chr16:68645859..68922331 [GRCh37] Chr16:67203360..67479832 [NCBI36] Chr16:16q22.1 |
uncertain significance |
NM_001793.4(CDH3):c.1196A>G (p.Glu399Gly) | single nucleotide variant | Malignant melanoma [RCV000063082] | Chr16:68684596 [GRCh38] Chr16:68718499 [GRCh37] Chr16:67276000 [NCBI36] Chr16:16q22.1 |
not provided |
NM_001793.6(CDH3):c.1285G>A (p.Val429Ile) | single nucleotide variant | EEM syndrome [RCV001119081]|not provided [RCV000086951] | Chr16:68684685 [GRCh38] Chr16:68718588 [GRCh37] Chr16:16q22.1 |
benign|likely benign|not provided |
NM_001793.6(CDH3):c.2178G>A (p.Pro726=) | single nucleotide variant | not provided [RCV000079720] | Chr16:68695821 [GRCh38] Chr16:68729724 [GRCh37] Chr16:16q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001793.6(CDH3):c.2239C>A (p.Arg747=) | single nucleotide variant | Congenital hypotrichosis with juvenile macular dystrophy [RCV001554866]|EEM syndrome [RCV000277967]|not provided [RCV000841447]|not specified [RCV000079721] | Chr16:68695882 [GRCh38] Chr16:68729785 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.1436T>C (p.Leu479Pro) | single nucleotide variant | EEM syndrome [RCV000385875]|not provided [RCV000894059]|not specified [RCV000174054] | Chr16:68685216 [GRCh38] Chr16:68719119 [GRCh37] Chr16:16q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001793.6(CDH3):c.235G>A (p.Glu79Lys) | single nucleotide variant | Malignant tumor of prostate [RCV000149118]|not provided [RCV001036583] | Chr16:68676459 [GRCh38] Chr16:68710362 [GRCh37] Chr16:16q22.1 |
pathogenic|uncertain significance |
NM_001793.6(CDH3):c.77C>T (p.Pro26Leu) | single nucleotide variant | not provided [RCV001312561] | Chr16:68645667 [GRCh38] Chr16:68679570 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.65C>A (p.Ala22Glu) | single nucleotide variant | Inborn genetic diseases [RCV002543596]|not provided [RCV001312416] | Chr16:68645655 [GRCh38] Chr16:68679558 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1443C>T (p.Asp481=) | single nucleotide variant | EEM syndrome [RCV000293983]|not provided [RCV000174055] | Chr16:68685223 [GRCh38] Chr16:68719126 [GRCh37] Chr16:16q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001793.6(CDH3):c.2003-10A>G | single nucleotide variant | not provided [RCV000174719] | Chr16:68695245 [GRCh38] Chr16:68729148 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2475C>T (p.Gly825=) | single nucleotide variant | not provided [RCV000175030] | Chr16:68698385 [GRCh38] Chr16:68732288 [GRCh37] Chr16:16q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 | copy number gain | See cases [RCV000135863] | Chr16:62925929..84585795 [GRCh38] Chr16:62959833..84619401 [GRCh37] Chr16:61517334..83176902 [NCBI36] Chr16:16q21-24.1 |
pathogenic |
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 | copy number gain | See cases [RCV000139426] | Chr16:65511483..90096995 [GRCh38] Chr16:65545386..90163403 [GRCh37] Chr16:64102887..88690904 [NCBI36] Chr16:16q21-24.3 |
pathogenic |
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 | copy number gain | See cases [RCV000142578] | Chr16:64389378..90081985 [GRCh38] Chr16:64423281..90148393 [GRCh37] Chr16:62980782..88675894 [NCBI36] Chr16:16q21-24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 | copy number gain | See cases [RCV000143425] | Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3 |
pathogenic |
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 | copy number gain | See cases [RCV000143742] | Chr16:65957829..83611443 [GRCh38] Chr16:65991732..83645048 [GRCh37] Chr16:64549233..82202549 [NCBI36] Chr16:16q21-23.3 |
pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 | copy number loss | Ductal breast carcinoma [RCV000207138] | Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3 |
uncertain significance |
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 | copy number loss | Ductal breast carcinoma [RCV000207067] | Chr16:55359026..70884455 [GRCh37] Chr16:16q12.2-22.2 |
likely pathogenic|uncertain significance |
Single allele | complex | Ductal breast carcinoma [RCV000207314] | Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3 |
uncertain significance |
NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln) | single nucleotide variant | EEM syndrome [RCV000326141]|not provided [RCV000388300] | Chr16:68695294 [GRCh38] Chr16:68729197 [GRCh37] Chr16:16q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001793.6(CDH3):c.1500C>T (p.Thr500=) | single nucleotide variant | EEM syndrome [RCV000337378]|not provided [RCV000966450]|not specified [RCV000336413] | Chr16:68685280 [GRCh38] Chr16:68719183 [GRCh37] Chr16:16q22.1 |
benign|likely benign|uncertain significance |
NM_001793.6(CDH3):c.1085G>A (p.Trp362Ter) | single nucleotide variant | not provided [RCV000353473] | Chr16:68682390 [GRCh38] Chr16:68716293 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.805A>C (p.Met269Leu) | single nucleotide variant | EEM syndrome [RCV000356369]|not provided [RCV000658749]|not specified [RCV000326394] | Chr16:68679912 [GRCh38] Chr16:68713815 [GRCh37] Chr16:16q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001793.6(CDH3):c.111C>T (p.Thr37=) | single nucleotide variant | not provided [RCV001494129] | Chr16:68645701 [GRCh38] Chr16:68679604 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1796-11G>T | single nucleotide variant | EEM syndrome [RCV000265334]|not provided [RCV002521063] | Chr16:68691709 [GRCh38] Chr16:68725612 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.5(CDH3):c.-72T>C | single nucleotide variant | EEM syndrome [RCV000284698] | Chr16:68645308 [GRCh38] Chr16:68679211 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.*485A>G | single nucleotide variant | EEM syndrome [RCV000302243] | Chr16:68698885 [GRCh38] Chr16:68732788 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.5(CDH3):c.-193G>T | single nucleotide variant | EEM syndrome [RCV000285842] | Chr16:68645187 [GRCh38] Chr16:68679090 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1011G>C (p.Val337=) | single nucleotide variant | EEM syndrome [RCV000268017]|not provided [RCV000592013] | Chr16:68682316 [GRCh38] Chr16:68716219 [GRCh37] Chr16:16q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001793.6(CDH3):c.1956G>A (p.Lys652=) | single nucleotide variant | Congenital hypotrichosis with juvenile macular dystrophy [RCV001554865]|EEM syndrome [RCV000268784]|not provided [RCV000836655] | Chr16:68691880 [GRCh38] Chr16:68725783 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.4(CDH3):c.-983A>G | single nucleotide variant | EEM syndrome [RCV000286393] | Chr16:68644397 [GRCh38] Chr16:68678300 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1689G>C (p.Gln563His) | single nucleotide variant | EEM syndrome [RCV000305316]|not provided [RCV000836749] | Chr16:68687630 [GRCh38] Chr16:68721533 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.100G>A (p.Ala34Thr) | single nucleotide variant | EEM syndrome [RCV000288285]|not provided [RCV001850702] | Chr16:68645690 [GRCh38] Chr16:68679593 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.813C>A (p.Thr271=) | single nucleotide variant | Congenital hypotrichosis with juvenile macular dystrophy [RCV001554863]|EEM syndrome [RCV000259290]|not provided [RCV000836653] | Chr16:68679920 [GRCh38] Chr16:68713823 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.1339G>A (p.Val447Ile) | single nucleotide variant | EEM syndrome [RCV000295157]|not provided [RCV001054282] | Chr16:68684739 [GRCh38] Chr16:68718642 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1593G>A (p.Thr531=) | single nucleotide variant | EEM syndrome [RCV000297660]|not provided [RCV001499034] | Chr16:68687534 [GRCh38] Chr16:68721437 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.6(CDH3):c.*87G>C | single nucleotide variant | EEM syndrome [RCV000280279] | Chr16:68698487 [GRCh38] Chr16:68732390 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.720G>A (p.Thr240=) | single nucleotide variant | Congenital hypotrichosis with juvenile macular dystrophy [RCV001554738]|EEM syndrome [RCV000299306]|not provided [RCV000836363] | Chr16:68679827 [GRCh38] Chr16:68713730 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.5(CDH3):c.-302C>T | single nucleotide variant | EEM syndrome [RCV000263804] | Chr16:68645078 [GRCh38] Chr16:68678981 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2419G>A (p.Asp807Asn) | single nucleotide variant | EEM syndrome [RCV000281554]|not provided [RCV001850704] | Chr16:68698329 [GRCh38] Chr16:68732232 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1932C>T (p.Val644=) | single nucleotide variant | EEM syndrome [RCV000365694]|not provided [RCV000729044] | Chr16:68691856 [GRCh38] Chr16:68725759 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.612C>A (p.Ile204=) | single nucleotide variant | EEM syndrome [RCV000366913]|not provided [RCV001516431] | Chr16:68678827 [GRCh38] Chr16:68712730 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.2421T>G (p.Asp807Glu) | single nucleotide variant | not provided [RCV000339901] | Chr16:68698331 [GRCh38] Chr16:68732234 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.5(CDH3):c.-141C>G | single nucleotide variant | EEM syndrome [RCV000324359] | Chr16:68645239 [GRCh38] Chr16:68679142 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.-36C>T | single nucleotide variant | EEM syndrome [RCV000346627] | Chr16:68645344 [GRCh38] Chr16:68679247 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.4(CDH3):c.-628G>A | single nucleotide variant | EEM syndrome [RCV000371366] | Chr16:68644752 [GRCh38] Chr16:68678655 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2484C>T (p.Asp828=) | single nucleotide variant | EEM syndrome [RCV000372482]|not provided [RCV001474844] | Chr16:68698394 [GRCh38] Chr16:68732297 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.5(CDH3):c.-267C>T | single nucleotide variant | EEM syndrome [RCV000373279] | Chr16:68645113 [GRCh38] Chr16:68679016 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.5(CDH3):c.-282G>T | single nucleotide variant | EEM syndrome [RCV000316650] | Chr16:68645098 [GRCh38] Chr16:68679001 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.345T>C (p.Ser115=) | single nucleotide variant | not provided [RCV000901196]|not specified [RCV000384605] | Chr16:68678232 [GRCh38] Chr16:68712135 [GRCh37] Chr16:16q22.1 |
benign|likely benign |
NM_001793.6(CDH3):c.1240G>A (p.Ala414Thr) | single nucleotide variant | EEM syndrome [RCV000328884]|Inborn genetic diseases [RCV002521062]|not provided [RCV001850703] | Chr16:68684640 [GRCh38] Chr16:68718543 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.-11T>C | single nucleotide variant | EEM syndrome [RCV000401003] | Chr16:68645369 [GRCh38] Chr16:68679272 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.4(CDH3):c.-621G>A | single nucleotide variant | EEM syndrome [RCV000274484] | Chr16:68644759 [GRCh38] Chr16:68678662 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1848C>T (p.Asp616=) | single nucleotide variant | EEM syndrome [RCV000308643]|not provided [RCV000910243] | Chr16:68691772 [GRCh38] Chr16:68725675 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.4(CDH3):c.-629dup | duplication | EEM syndrome [RCV000308578] | Chr16:68644735..68644736 [GRCh38] Chr16:68678638..68678639 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.1430G>A (p.Arg477His) | single nucleotide variant | EEM syndrome [RCV000352422]|not provided [RCV001517328] | Chr16:68685210 [GRCh38] Chr16:68719113 [GRCh37] Chr16:16q22.1 |
benign|likely benign |
NM_001793.4(CDH3):c.-1085A>G | single nucleotide variant | EEM syndrome [RCV000402081] | Chr16:68644295 [GRCh38] Chr16:68678198 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.166A>G (p.Met56Val) | single nucleotide variant | EEM syndrome [RCV000345052]|not provided [RCV001229759] | Chr16:68676390 [GRCh38] Chr16:68710293 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2280+7C>T | single nucleotide variant | EEM syndrome [RCV000330709]|not provided [RCV000949813] | Chr16:68695930 [GRCh38] Chr16:68729833 [GRCh37] Chr16:16q22.1 |
benign|likely benign |
NM_001793.5(CDH3):c.-537A>G | single nucleotide variant | EEM syndrome [RCV000331655] | Chr16:68644843 [GRCh38] Chr16:68678746 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.1178G>A (p.Arg393Lys) | single nucleotide variant | EEM syndrome [RCV000377521]|not provided [RCV000733024] | Chr16:68682483 [GRCh38] Chr16:68716386 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.119C>A (p.Ala40Glu) | single nucleotide variant | not provided [RCV000391563] | Chr16:68645709 [GRCh38] Chr16:68679612 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.*595G>A | single nucleotide variant | EEM syndrome [RCV000310512] | Chr16:68698995 [GRCh38] Chr16:68732898 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.5(CDH3):c.-140G>T | single nucleotide variant | EEM syndrome [RCV000376671] | Chr16:68645240 [GRCh38] Chr16:68679143 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2364C>T (p.Asp788=) | single nucleotide variant | not provided [RCV000392878] | Chr16:68698274 [GRCh38] Chr16:68732177 [GRCh37] Chr16:16q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001793.5(CDH3):c.-399G>C | single nucleotide variant | EEM syndrome [RCV000356119] | Chr16:68644981 [GRCh38] Chr16:68678884 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1257G>A (p.Lys419=) | single nucleotide variant | EEM syndrome [RCV000381149]|not provided [RCV000947710] | Chr16:68684657 [GRCh38] Chr16:68718560 [GRCh37] Chr16:16q22.1 |
benign|likely benign |
NM_001793.4(CDH3):c.-633_-627AAAAAGA[1] | microsatellite | EEM syndrome [RCV000403396] | Chr16:68644746..68644752 [GRCh38] Chr16:68678649..68678655 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1681G>A (p.Val561Met) | single nucleotide variant | EEM syndrome [RCV000407632]|not provided [RCV000595748] | Chr16:68687622 [GRCh38] Chr16:68721525 [GRCh37] Chr16:16q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001793.6(CDH3):c.1571-7C>G | single nucleotide variant | EEM syndrome [RCV000407662]|not provided [RCV001764289] | Chr16:68687505 [GRCh38] Chr16:68721408 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2430C>T (p.Asn810=) | single nucleotide variant | not provided [RCV000361911] | Chr16:68698340 [GRCh38] Chr16:68732243 [GRCh37] Chr16:16q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001793.6(CDH3):c.390+5G>A | single nucleotide variant | EEM syndrome [RCV000314614]|not provided [RCV000914847] | Chr16:68678282 [GRCh38] Chr16:68712185 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.6(CDH3):c.1626T>C (p.Asn542=) | single nucleotide variant | Congenital hypotrichosis with juvenile macular dystrophy [RCV001554864]|EEM syndrome [RCV000336277]|not provided [RCV000836654] | Chr16:68687567 [GRCh38] Chr16:68721470 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.886C>G (p.Leu296Val) | single nucleotide variant | EEM syndrome [RCV000360247] | Chr16:68680986 [GRCh38] Chr16:68714889 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1081G>T (p.Ala361Ser) | single nucleotide variant | Inborn genetic diseases [RCV002522013]|not provided [RCV000327556] | Chr16:68682386 [GRCh38] Chr16:68716289 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2444G>A (p.Arg815His) | single nucleotide variant | EEM syndrome [RCV000338880] | Chr16:68698354 [GRCh38] Chr16:68732257 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.4(CDH3):c.-679T>C | single nucleotide variant | EEM syndrome [RCV000339062] | Chr16:68644701 [GRCh38] Chr16:68678604 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.867+6T>C | single nucleotide variant | EEM syndrome [RCV000317257]|not provided [RCV001302479] | Chr16:68679980 [GRCh38] Chr16:68713883 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.*498G>A | single nucleotide variant | EEM syndrome [RCV000340745] | Chr16:68698898 [GRCh38] Chr16:68732801 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2361C>T (p.Ser787=) | single nucleotide variant | EEM syndrome [RCV000387607]|not provided [RCV001416002] | Chr16:68698271 [GRCh38] Chr16:68732174 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.6(CDH3):c.*154G>T | single nucleotide variant | EEM syndrome [RCV000341921]|not provided [RCV001683287] | Chr16:68698554 [GRCh38] Chr16:68732457 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.*405G>A | single nucleotide variant | EEM syndrome [RCV000390035] | Chr16:68698805 [GRCh38] Chr16:68732708 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1785C>T (p.Val595=) | single nucleotide variant | EEM syndrome [RCV001116137]|not provided [RCV000334252] | Chr16:68687726 [GRCh38] Chr16:68721629 [GRCh37] Chr16:16q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001793.4(CDH3):c.-634_-633insG | insertion | EEM syndrome [RCV000314275] | Chr16:68644746..68644747 [GRCh38] Chr16:68678649..68678650 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.4(CDH3):c.-635_-634insG | insertion | EEM syndrome [RCV000365625] | Chr16:68644745..68644746 [GRCh38] Chr16:68678648..68678649 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1043G>A (p.Arg348Lys) | single nucleotide variant | EEM syndrome [RCV000320834] | Chr16:68682348 [GRCh38] Chr16:68716251 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2070A>G (p.Pro690=) | single nucleotide variant | EEM syndrome [RCV000388706] | Chr16:68695322 [GRCh38] Chr16:68729225 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.318G>A (p.Lys106=) | single nucleotide variant | EEM syndrome [RCV000407393]|not provided [RCV002521061] | Chr16:68678205 [GRCh38] Chr16:68712108 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.6(CDH3):c.691G>C (p.Gly231Arg) | single nucleotide variant | EEM syndrome [RCV000407443] | Chr16:68678906 [GRCh38] Chr16:68712809 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.4(CDH3):c.-646_-645insA | insertion | EEM syndrome [RCV000390892] | Chr16:68644734..68644735 [GRCh38] Chr16:68678637..68678638 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.*529G>A | single nucleotide variant | EEM syndrome [RCV000390962] | Chr16:68698929 [GRCh38] Chr16:68732832 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1740G>C (p.Gln580His) | single nucleotide variant | EEM syndrome [RCV000357708] | Chr16:68687681 [GRCh38] Chr16:68721584 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1183-12C>T | single nucleotide variant | EEM syndrome [RCV000290318] | Chr16:68684571 [GRCh38] Chr16:68718474 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.821G>A (p.Arg274Gln) | single nucleotide variant | not provided [RCV000591960] | Chr16:68679928 [GRCh38] Chr16:68713831 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1704G>A (p.Thr568=) | single nucleotide variant | not provided [RCV000597821] | Chr16:68687645 [GRCh38] Chr16:68721548 [GRCh37] Chr16:16q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001793.6(CDH3):c.1652G>A (p.Arg551His) | single nucleotide variant | EEM syndrome [RCV001121045]|not provided [RCV000591331] | Chr16:68687593 [GRCh38] Chr16:68721496 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.918C>T (p.Asp306=) | single nucleotide variant | EEM syndrome [RCV001116026]|not provided [RCV000733939] | Chr16:68681018 [GRCh38] Chr16:68714921 [GRCh37] Chr16:16q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001793.6(CDH3):c.895C>T (p.Gln299Ter) | single nucleotide variant | not provided [RCV000729245] | Chr16:68680995 [GRCh38] Chr16:68714898 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.410G>A (p.Arg137Lys) | single nucleotide variant | not provided [RCV001307623]|not specified [RCV000413821] | Chr16:68678520 [GRCh38] Chr16:68712423 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 | copy number gain | See cases [RCV000446110] | Chr16:46464488..90155062 [GRCh37] Chr16:16q11.2-24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 | copy number gain | See cases [RCV000446684] | Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_001793.6(CDH3):c.2233C>T (p.Arg745Cys) | single nucleotide variant | not provided [RCV000479232] | Chr16:68695876 [GRCh38] Chr16:68729779 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 | copy number gain | See cases [RCV000511622] | Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3 |
uncertain significance |
NM_001793.6(CDH3):c.2305C>A (p.Pro769Thr) | single nucleotide variant | EEM syndrome [RCV000625862] | Chr16:68698215 [GRCh38] Chr16:68732118 [GRCh37] Chr16:16q22.1 |
likely pathogenic|uncertain significance |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 | copy number gain | See cases [RCV000512138] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_001793.6(CDH3):c.1222G>A (p.Val408Ile) | single nucleotide variant | Inborn genetic diseases [RCV002532523]|not provided [RCV000596619] | Chr16:68684622 [GRCh38] Chr16:68718525 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) | copy number gain | See cases [RCV000511296] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_001793.6(CDH3):c.101C>T (p.Ala34Val) | single nucleotide variant | not provided [RCV000597193] | Chr16:68645691 [GRCh38] Chr16:68679594 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] | Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] | Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 | copy number gain | See cases [RCV000512511] | Chr16:57051473..89797669 [GRCh37] Chr16:16q13-24.3 |
pathogenic |
NM_001793.6(CDH3):c.1087C>T (p.Arg363Cys) | single nucleotide variant | EEM syndrome [RCV001117477]|not provided [RCV000922226]|not specified [RCV000596107] | Chr16:68682392 [GRCh38] Chr16:68716295 [GRCh37] Chr16:16q22.1 |
benign|likely benign |
NM_001793.6(CDH3):c.2356G>A (p.Gly786Ser) | single nucleotide variant | EEM syndrome [RCV001119176]|not provided [RCV000512996] | Chr16:68698266 [GRCh38] Chr16:68732169 [GRCh37] Chr16:16q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 | copy number gain | not provided [RCV000683820] | Chr16:54416050..72453266 [GRCh37] Chr16:16q12.2-22.2 |
pathogenic |
NM_001793.6(CDH3):c.335C>T (p.Ala112Val) | single nucleotide variant | Retinal dystrophy [RCV000678534] | Chr16:68678222 [GRCh38] Chr16:68712125 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16q22.1(chr16:68417085-68914451)x3 | copy number gain | not provided [RCV000683826] | Chr16:68417085..68914451 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2281-45A>C | single nucleotide variant | Congenital hypotrichosis with juvenile macular dystrophy [RCV001554868]|EEM syndrome [RCV001554867]|not provided [RCV001685530] | Chr16:68698146 [GRCh38] Chr16:68732049 [GRCh37] Chr16:16q22.1 |
benign |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 | copy number gain | not provided [RCV000738918] | Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 | copy number gain | not provided [RCV000738915] | Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 | copy number gain | not provided [RCV000738917] | Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_001793.6(CDH3):c.2281-44G>T | single nucleotide variant | not provided [RCV001659039]|not specified [RCV001726608] | Chr16:68698147 [GRCh38] Chr16:68732050 [GRCh37] Chr16:16q22.1 |
benign|likely benign |
NM_001793.6(CDH3):c.52T>C (p.Trp18Arg) | single nucleotide variant | not provided [RCV003312348] | Chr16:68645642 [GRCh38] Chr16:68679545 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2059dup (p.Leu687fs) | duplication | not provided [RCV001054787] | Chr16:68695307..68695308 [GRCh38] Chr16:68729210..68729211 [GRCh37] Chr16:16q22.1 |
pathogenic |
GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1 | copy number loss | not provided [RCV001006797] | Chr16:65669673..70180183 [GRCh37] Chr16:16q21-22.1 |
pathogenic |
NM_001793.6(CDH3):c.109A>T (p.Thr37Ser) | single nucleotide variant | EEM syndrome [RCV001117370]|Inborn genetic diseases [RCV002556498]|not provided [RCV001521567] | Chr16:68645699 [GRCh38] Chr16:68679602 [GRCh37] Chr16:16q22.1 |
benign|likely benign|uncertain significance |
NM_001793.6(CDH3):c.1221C>T (p.Tyr407=) | single nucleotide variant | EEM syndrome [RCV001117479]|not provided [RCV001448118] | Chr16:68684621 [GRCh38] Chr16:68718524 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.6(CDH3):c.1776G>A (p.Thr592=) | single nucleotide variant | not provided [RCV000904319] | Chr16:68687717 [GRCh38] Chr16:68721620 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.2058C>T (p.Pro686=) | single nucleotide variant | EEM syndrome [RCV001117571]|not provided [RCV000879141]|not specified [RCV001700326] | Chr16:68695310 [GRCh38] Chr16:68729213 [GRCh37] Chr16:16q22.1 |
benign|likely benign |
NM_001793.6(CDH3):c.2211C>T (p.Thr737=) | single nucleotide variant | not provided [RCV000904554] | Chr16:68695854 [GRCh38] Chr16:68729757 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.141C>G (p.Pro47=) | single nucleotide variant | EEM syndrome [RCV001117371]|not provided [RCV000906319] | Chr16:68645731 [GRCh38] Chr16:68679634 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.1775C>T (p.Thr592Met) | single nucleotide variant | Inborn genetic diseases [RCV002551380]|not provided [RCV001037399] | Chr16:68687716 [GRCh38] Chr16:68721619 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.6(CDH3):c.937G>A (p.Val313Met) | single nucleotide variant | not provided [RCV001870704] | Chr16:68681037 [GRCh38] Chr16:68714940 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2076T>G (p.Asp692Glu) | single nucleotide variant | not provided [RCV001046590] | Chr16:68695328 [GRCh38] Chr16:68729231 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NC_000016.10:g.(?_68645380)_(68698400_?)dup | duplication | not provided [RCV001033545] | Chr16:68679283..68732303 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.307C>T (p.Arg103Ter) | single nucleotide variant | Retinal dystrophy [RCV001073805]|not provided [RCV001784631] | Chr16:68678194 [GRCh38] Chr16:68712097 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.1716G>A (p.Leu572=) | single nucleotide variant | not provided [RCV000910242] | Chr16:68687657 [GRCh38] Chr16:68721560 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.474C>T (p.Phe158=) | single nucleotide variant | not provided [RCV000919338] | Chr16:68678584 [GRCh38] Chr16:68712487 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2418C>T (p.Tyr806=) | single nucleotide variant | not provided [RCV000976739] | Chr16:68698328 [GRCh38] Chr16:68732231 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1014T>G (p.Pro338=) | single nucleotide variant | not provided [RCV000924282] | Chr16:68682319 [GRCh38] Chr16:68716222 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.55C>T (p.Leu19=) | single nucleotide variant | not provided [RCV000963686] | Chr16:68645645 [GRCh38] Chr16:68679548 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.369C>A (p.Pro123=) | single nucleotide variant | not provided [RCV000900978] | Chr16:68678256 [GRCh38] Chr16:68712159 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1083G>A (p.Ala361=) | single nucleotide variant | not provided [RCV000940005] | Chr16:68682388 [GRCh38] Chr16:68716291 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1063G>T (p.Asp355Tyr) | single nucleotide variant | Congenital hypotrichosis with juvenile macular dystrophy [RCV000824812]|not provided [RCV002536035] | Chr16:68682368 [GRCh38] Chr16:68716271 [GRCh37] Chr16:16q22.1 |
pathogenic|likely pathogenic |
NM_001793.6(CDH3):c.2469C>T (p.Tyr823=) | single nucleotide variant | EEM syndrome [RCV001121167]|not provided [RCV000915385] | Chr16:68698379 [GRCh38] Chr16:68732282 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.6(CDH3):c.1918T>G (p.Cys640Gly) | single nucleotide variant | Congenital hypotrichosis with juvenile macular dystrophy [RCV000985062] | Chr16:68691842 [GRCh38] Chr16:68725745 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
NM_001793.6(CDH3):c.247-38A>G | single nucleotide variant | Congenital hypotrichosis with juvenile macular dystrophy [RCV001554735]|EEM syndrome [RCV001554734]|not provided [RCV000836748] | Chr16:68678096 [GRCh38] Chr16:68711999 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.3G>A (p.Met1Ile) | single nucleotide variant | Retinitis pigmentosa [RCV000787809] | Chr16:68645382 [GRCh38] Chr16:68679285 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
NM_001793.6(CDH3):c.390+37T>C | single nucleotide variant | Congenital hypotrichosis with juvenile macular dystrophy [RCV001554737]|EEM syndrome [RCV001554736]|not provided [RCV000836652] | Chr16:68678314 [GRCh38] Chr16:68712217 [GRCh37] Chr16:16q22.1 |
benign |
GRCh37/hg19 16q22.1(chr16:68655923-68905837)x3 | copy number gain | not provided [RCV000848611] | Chr16:68655923..68905837 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.854G>T (p.Gly285Val) | single nucleotide variant | EEM syndrome [RCV001116024]|not provided [RCV001862893] | Chr16:68679961 [GRCh38] Chr16:68713864 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1808T>C (p.Val603Ala) | single nucleotide variant | EEM syndrome [RCV001116138]|EEM syndrome [RCV002482215]|not provided [RCV001213708] | Chr16:68691732 [GRCh38] Chr16:68725635 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.*195G>T | single nucleotide variant | EEM syndrome [RCV001116250]|not provided [RCV001664693] | Chr16:68698595 [GRCh38] Chr16:68732498 [GRCh37] Chr16:16q22.1 |
benign|likely benign |
NM_001793.6(CDH3):c.324T>C (p.Asp108=) | single nucleotide variant | EEM syndrome [RCV001118980] | Chr16:68678211 [GRCh38] Chr16:68712114 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.651G>C (p.Gln217His) | single nucleotide variant | EEM syndrome [RCV001118982] | Chr16:68678866 [GRCh38] Chr16:68712769 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.654C>T (p.Asp218=) | single nucleotide variant | EEM syndrome [RCV001118983]|not provided [RCV001423142] | Chr16:68678869 [GRCh38] Chr16:68712772 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.6(CDH3):c.1119C>T (p.Asp373=) | single nucleotide variant | EEM syndrome [RCV001117478] | Chr16:68682424 [GRCh38] Chr16:68716327 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1722C>T (p.Pro574=) | single nucleotide variant | not provided [RCV000919685] | Chr16:68687663 [GRCh38] Chr16:68721566 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1795+1G>C | single nucleotide variant | Congenital hypotrichosis with juvenile macular dystrophy [RCV000824709] | Chr16:68687737 [GRCh38] Chr16:68721640 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.46-11C>T | single nucleotide variant | EEM syndrome [RCV001117369] | Chr16:68645625 [GRCh38] Chr16:68679528 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.798C>T (p.His266=) | single nucleotide variant | EEM syndrome [RCV001120951]|not provided [RCV002069966] | Chr16:68679905 [GRCh38] Chr16:68713808 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.6(CDH3):c.1284G>A (p.Val428=) | single nucleotide variant | EEM syndrome [RCV001119080] | Chr16:68684684 [GRCh38] Chr16:68718587 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2340C>T (p.Phe780=) | single nucleotide variant | EEM syndrome [RCV001119175] | Chr16:68698250 [GRCh38] Chr16:68732153 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1291G>C (p.Val431Leu) | single nucleotide variant | not provided [RCV001240209] | Chr16:68684691 [GRCh38] Chr16:68718594 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1270A>G (p.Thr424Ala) | single nucleotide variant | not provided [RCV001201989] | Chr16:68684670 [GRCh38] Chr16:68718573 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.656C>G (p.Thr219Ser) | single nucleotide variant | not provided [RCV000996289] | Chr16:68678871 [GRCh38] Chr16:68712774 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16q22.1(chr16:68679283-69221649)x3 | copy number gain | not provided [RCV000996431] | Chr16:68679283..69221649 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1050G>A (p.Thr350=) | single nucleotide variant | EEM syndrome [RCV001117476]|not provided [RCV001487376] | Chr16:68682355 [GRCh38] Chr16:68716258 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.6(CDH3):c.2061C>T (p.Leu687=) | single nucleotide variant | EEM syndrome [RCV001117572]|not provided [RCV002556503] | Chr16:68695313 [GRCh38] Chr16:68729216 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.6(CDH3):c.*535G>A | single nucleotide variant | EEM syndrome [RCV001117695] | Chr16:68698935 [GRCh38] Chr16:68732838 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.*180G>C | single nucleotide variant | EEM syndrome [RCV001116249] | Chr16:68698580 [GRCh38] Chr16:68732483 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1685G>A (p.Arg562His) | single nucleotide variant | not provided [RCV001246694] | Chr16:68687626 [GRCh38] Chr16:68721529 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2389T>A (p.Ser797Thr) | single nucleotide variant | not provided [RCV001202045] | Chr16:68698299 [GRCh38] Chr16:68732202 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2281-274G>A | single nucleotide variant | not provided [RCV001665286] | Chr16:68697917 [GRCh38] Chr16:68731820 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.160+117G>A | single nucleotide variant | Congenital hypotrichosis with juvenile macular dystrophy [RCV001554733]|EEM syndrome [RCV001554732]|not provided [RCV001709742] | Chr16:68645867 [GRCh38] Chr16:68679770 [GRCh37] Chr16:16q22.1 |
benign |
NC_000016.9:g.(?_68349883)_(68732303_?)del | deletion | not provided [RCV003107474] | Chr16:68349883..68732303 [GRCh37] Chr16:16q22.1 |
pathogenic |
NC_000016.9:g.(?_68721395)_(68721659_?)del | deletion | not provided [RCV003107475] | Chr16:68721395..68721659 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NC_000016.9:g.(?_68718466)_(68721659_?)del | deletion | not provided [RCV003107476] | Chr16:68718466..68721659 [GRCh37] Chr16:16q22.1 |
pathogenic |
NC_000016.9:g.(?_68721395)_(68725849_?)del | deletion | not provided [RCV003107477] | Chr16:68721395..68725849 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NC_000016.9:g.(?_68721395)_(68732303_?)del | deletion | not provided [RCV003107478] | Chr16:68721395..68732303 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NC_000016.9:g.(?_68710268)_(68867402_?)del | deletion | not provided [RCV003107479] | Chr16:68710268..68867402 [GRCh37] Chr16:16q22.1 |
pathogenic |
NC_000016.9:g.(?_68710268)_(68716410_?)del | deletion | not provided [RCV003107480] | Chr16:68710268..68716410 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.1571-75G>A | single nucleotide variant | not provided [RCV001662901] | Chr16:68687437 [GRCh38] Chr16:68721340 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.1796-187C>T | single nucleotide variant | not provided [RCV001567431] | Chr16:68691533 [GRCh38] Chr16:68725436 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2134-154G>A | single nucleotide variant | not provided [RCV001595278] | Chr16:68695623 [GRCh38] Chr16:68729526 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.546+35C>G | single nucleotide variant | not provided [RCV001561217] | Chr16:68678691 [GRCh38] Chr16:68712594 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.692-248C>T | single nucleotide variant | not provided [RCV001598033] | Chr16:68679551 [GRCh38] Chr16:68713454 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.2003-220C>T | single nucleotide variant | not provided [RCV001639215] | Chr16:68695035 [GRCh38] Chr16:68728938 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.1183-158A>G | single nucleotide variant | not provided [RCV001592090] | Chr16:68684425 [GRCh38] Chr16:68718328 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2003-182C>A | single nucleotide variant | not provided [RCV001639506] | Chr16:68695073 [GRCh38] Chr16:68728976 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.161-123T>C | single nucleotide variant | not provided [RCV001672243] | Chr16:68676262 [GRCh38] Chr16:68710165 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.1570+79C>T | single nucleotide variant | not provided [RCV001559736] | Chr16:68685429 [GRCh38] Chr16:68719332 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1942C>T (p.Pro648Ser) | single nucleotide variant | not provided [RCV000887061] | Chr16:68691866 [GRCh38] Chr16:68725769 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.285C>A (p.Ile95=) | single nucleotide variant | not provided [RCV000921312] | Chr16:68678172 [GRCh38] Chr16:68712075 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.558C>T (p.His186=) | single nucleotide variant | not provided [RCV000939024] | Chr16:68678773 [GRCh38] Chr16:68712676 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1730C>T (p.Ser577Phe) | single nucleotide variant | not provided [RCV001241926] | Chr16:68687671 [GRCh38] Chr16:68721574 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1703C>T (p.Thr568Met) | single nucleotide variant | not provided [RCV001235682] | Chr16:68687644 [GRCh38] Chr16:68721547 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1381G>T (p.Val461Phe) | single nucleotide variant | not provided [RCV001242156] | Chr16:68684781 [GRCh38] Chr16:68718684 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2431G>A (p.Glu811Lys) | single nucleotide variant | not provided [RCV001242157] | Chr16:68698341 [GRCh38] Chr16:68732244 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.989C>A (p.Pro330His) | single nucleotide variant | not provided [RCV001207779] | Chr16:68681089 [GRCh38] Chr16:68714992 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.547-3C>T | single nucleotide variant | not provided [RCV001242783] | Chr16:68678759 [GRCh38] Chr16:68712662 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1419G>T (p.Lys473Asn) | single nucleotide variant | not provided [RCV001236192] | Chr16:68684819 [GRCh38] Chr16:68718722 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1504G>A (p.Asp502Asn) | single nucleotide variant | not provided [RCV001227466] | Chr16:68685284 [GRCh38] Chr16:68719187 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.*523G>A | single nucleotide variant | EEM syndrome [RCV001116251] | Chr16:68698923 [GRCh38] Chr16:68732826 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NC_000016.10:g.(?_68676385)_(68679974_?)dup | duplication | not provided [RCV001031144] | Chr16:68710288..68713877 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
NM_001793.6(CDH3):c.2368G>C (p.Ala790Pro) | single nucleotide variant | not provided [RCV001057620] | Chr16:68698278 [GRCh38] Chr16:68732181 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2260A>G (p.Ile754Val) | single nucleotide variant | not provided [RCV001206313] | Chr16:68695903 [GRCh38] Chr16:68729806 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.34C>T (p.Leu12Phe) | single nucleotide variant | EEM syndrome [RCV001117367]|Inborn genetic diseases [RCV002558161]|not provided [RCV001247426] | Chr16:68645413 [GRCh38] Chr16:68679316 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.45+6C>T | single nucleotide variant | EEM syndrome [RCV001117368]|not provided [RCV001862898] | Chr16:68645430 [GRCh38] Chr16:68679333 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.146A>G (p.Gln49Arg) | single nucleotide variant | not provided [RCV001064971] | Chr16:68645736 [GRCh38] Chr16:68679639 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2159G>A (p.Arg720Gln) | single nucleotide variant | not provided [RCV001225434] | Chr16:68695802 [GRCh38] Chr16:68729705 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.920G>C (p.Gly307Ala) | single nucleotide variant | not provided [RCV001225435] | Chr16:68681020 [GRCh38] Chr16:68714923 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1632T>G (p.His544Gln) | single nucleotide variant | EEM syndrome [RCV001121044] | Chr16:68687573 [GRCh38] Chr16:68721476 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.*2C>T | single nucleotide variant | EEM syndrome [RCV001121168] | Chr16:68698402 [GRCh38] Chr16:68732305 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.*87G>T | single nucleotide variant | EEM syndrome [RCV001121170] | Chr16:68698487 [GRCh38] Chr16:68732390 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1117G>A (p.Asp373Asn) | single nucleotide variant | not provided [RCV000957446] | Chr16:68682422 [GRCh38] Chr16:68716325 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1984G>A (p.Ala662Thr) | single nucleotide variant | EEM syndrome [RCV001116139]|not provided [RCV000935013] | Chr16:68691908 [GRCh38] Chr16:68725811 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.6(CDH3):c.45+79C>A | single nucleotide variant | not provided [RCV001561777] | Chr16:68645503 [GRCh38] Chr16:68679406 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1570+177C>T | single nucleotide variant | not provided [RCV001659561] | Chr16:68685527 [GRCh38] Chr16:68719430 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.997-120G>A | single nucleotide variant | not provided [RCV001556919] | Chr16:68682182 [GRCh38] Chr16:68716085 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1796-44G>A | single nucleotide variant | not provided [RCV001556955] | Chr16:68691676 [GRCh38] Chr16:68725579 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2003-257G>C | single nucleotide variant | not provided [RCV001572287] | Chr16:68694998 [GRCh38] Chr16:68728901 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2002+180G>A | single nucleotide variant | not provided [RCV001551610] | Chr16:68692106 [GRCh38] Chr16:68726009 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.997-26T>C | single nucleotide variant | not provided [RCV001636464] | Chr16:68682276 [GRCh38] Chr16:68716179 [GRCh37] Chr16:16q22.1 |
benign |
GRCh37/hg19 16q22.1(chr16:68326200-68970975)x3 | copy number gain | not provided [RCV002472657] | Chr16:68326200..68970975 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1183-119T>C | single nucleotide variant | not provided [RCV001594633] | Chr16:68684464 [GRCh38] Chr16:68718367 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.2134-155C>T | single nucleotide variant | not provided [RCV001596231] | Chr16:68695622 [GRCh38] Chr16:68729525 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.2281-288T>C | single nucleotide variant | not provided [RCV001598784] | Chr16:68697903 [GRCh38] Chr16:68731806 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.246+50A>G | single nucleotide variant | not provided [RCV001658949] | Chr16:68676520 [GRCh38] Chr16:68710423 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.547-12T>C | single nucleotide variant | EEM syndrome [RCV001118981]|not provided [RCV002069931] | Chr16:68678750 [GRCh38] Chr16:68712653 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.6(CDH3):c.*142C>T | single nucleotide variant | EEM syndrome [RCV001121171] | Chr16:68698542 [GRCh38] Chr16:68732445 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.*3G>T | single nucleotide variant | EEM syndrome [RCV001121169] | Chr16:68698403 [GRCh38] Chr16:68732306 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.*149G>T | single nucleotide variant | EEM syndrome [RCV001121172] | Chr16:68698549 [GRCh38] Chr16:68732452 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1373C>G (p.Pro458Arg) | single nucleotide variant | not provided [RCV001064498] | Chr16:68684773 [GRCh38] Chr16:68718676 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1796-137A>G | single nucleotide variant | not provided [RCV001695286] | Chr16:68691583 [GRCh38] Chr16:68725486 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.820C>T (p.Arg274Trp) | single nucleotide variant | EEM syndrome [RCV001120952]|Inborn genetic diseases [RCV002556601]|not provided [RCV001856586] | Chr16:68679927 [GRCh38] Chr16:68713830 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1424+23A>G | single nucleotide variant | not provided [RCV001609753] | Chr16:68684847 [GRCh38] Chr16:68718750 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.997-139G>A | single nucleotide variant | not provided [RCV001710886] | Chr16:68682163 [GRCh38] Chr16:68716066 [GRCh37] Chr16:16q22.1 |
benign |
GRCh37/hg19 16q22.1(chr16:68671740-68906494)x3 | copy number gain | not provided [RCV001006798] | Chr16:68671740..68906494 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.298C>T (p.Arg100Cys) | single nucleotide variant | not provided [RCV001068842] | Chr16:68678185 [GRCh38] Chr16:68712088 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1570+297T>G | single nucleotide variant | not provided [RCV001666249] | Chr16:68685647 [GRCh38] Chr16:68719550 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.2003-46A>G | single nucleotide variant | not provided [RCV001666376] | Chr16:68695209 [GRCh38] Chr16:68729112 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.2443C>T (p.Arg815Cys) | single nucleotide variant | not provided [RCV001057794] | Chr16:68698353 [GRCh38] Chr16:68732256 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.247-194dup | duplication | not provided [RCV001547424] | Chr16:68677926..68677927 [GRCh38] Chr16:68711829..68711830 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2395G>A (p.Ala799Thr) | single nucleotide variant | not provided [RCV001212249] | Chr16:68698305 [GRCh38] Chr16:68732208 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2239_2240delinsAA (p.Arg747Lys) | indel | not provided [RCV001235626] | Chr16:68695882..68695883 [GRCh38] Chr16:68729785..68729786 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2401G>A (p.Asp801Asn) | single nucleotide variant | not provided [RCV001047462] | Chr16:68698311 [GRCh38] Chr16:68732214 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2138A>G (p.Tyr713Cys) | single nucleotide variant | not provided [RCV001237198] | Chr16:68695781 [GRCh38] Chr16:68729684 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1423A>C (p.Ser475Arg) | single nucleotide variant | not provided [RCV001237243] | Chr16:68684823 [GRCh38] Chr16:68718726 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.190G>T (p.Ala64Ser) | single nucleotide variant | Inborn genetic diseases [RCV002553198]|not provided [RCV001049329] | Chr16:68676414 [GRCh38] Chr16:68710317 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1649C>T (p.Pro550Leu) | single nucleotide variant | not provided [RCV001208553] | Chr16:68687590 [GRCh38] Chr16:68721493 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2155C>T (p.His719Tyr) | single nucleotide variant | not provided [RCV001208648] | Chr16:68695798 [GRCh38] Chr16:68729701 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NC_000016.10:g.(?_68645380)_(68645750_?)dup | duplication | not provided [RCV001033854] | Chr16:68679283..68679653 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.868-6C>G | single nucleotide variant | not provided [RCV001205359] | Chr16:68680962 [GRCh38] Chr16:68714865 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.830G>A (p.Gly277Asp) | single nucleotide variant | Hypotrichosis with juvenile macular dystrophy [RCV001002925] | Chr16:68679937 [GRCh38] Chr16:68713840 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
NM_001793.6(CDH3):c.2200G>A (p.Val734Met) | single nucleotide variant | Retinitis pigmentosa [RCV001002927]|not provided [RCV002551699] | Chr16:68695843 [GRCh38] Chr16:68729746 [GRCh37] Chr16:16q22.1 |
likely pathogenic|uncertain significance |
NM_001793.6(CDH3):c.2263G>A (p.Gly755Ser) | single nucleotide variant | not provided [RCV001035029] | Chr16:68695906 [GRCh38] Chr16:68729809 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2002+5G>A | single nucleotide variant | not provided [RCV001043593] | Chr16:68691931 [GRCh38] Chr16:68725834 [GRCh37] Chr16:16q22.1 |
likely pathogenic|uncertain significance |
NM_001793.6(CDH3):c.956T>C (p.Leu319Pro) | single nucleotide variant | not provided [RCV001044699] | Chr16:68681056 [GRCh38] Chr16:68714959 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2362G>A (p.Asp788Asn) | single nucleotide variant | EEM syndrome [RCV001119177]|not provided [RCV001045345] | Chr16:68698272 [GRCh38] Chr16:68732175 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1682T>C (p.Val561Ala) | single nucleotide variant | not provided [RCV001204106] | Chr16:68687623 [GRCh38] Chr16:68721526 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2342A>T (p.Asp781Val) | single nucleotide variant | not provided [RCV001232524] | Chr16:68698252 [GRCh38] Chr16:68732155 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.909G>T (p.Met303Ile) | single nucleotide variant | EEM syndrome [RCV001116025]|not provided [RCV001522875] | Chr16:68681009 [GRCh38] Chr16:68714912 [GRCh37] Chr16:16q22.1 |
benign|uncertain significance |
NM_001793.6(CDH3):c.996+13C>T | single nucleotide variant | EEM syndrome [RCV001116027]|not provided [RCV001509662] | Chr16:68681109 [GRCh38] Chr16:68715012 [GRCh37] Chr16:16q22.1 |
benign|likely benign |
NM_001793.6(CDH3):c.1049C>T (p.Thr350Met) | single nucleotide variant | not provided [RCV001204422] | Chr16:68682354 [GRCh38] Chr16:68716257 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1648C>T (p.Pro550Ser) | single nucleotide variant | Inborn genetic diseases [RCV003166458]|not provided [RCV001235681] | Chr16:68687589 [GRCh38] Chr16:68721492 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2024T>G (p.Leu675Trp) | single nucleotide variant | not provided [RCV001046607] | Chr16:68695276 [GRCh38] Chr16:68729179 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 | copy number gain | not provided [RCV001249359] | Chr16:61524229..90155062 [GRCh37] Chr16:16q21-24.3 |
not provided |
NM_001793.6(CDH3):c.2107G>A (p.Glu703Lys) | single nucleotide variant | not provided [RCV001212751] | Chr16:68695359 [GRCh38] Chr16:68729262 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.747C>A (p.Tyr249Ter) | single nucleotide variant | Hypotrichosis with juvenile macular dystrophy [RCV001002924]|not provided [RCV003321770] | Chr16:68679854 [GRCh38] Chr16:68713757 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.2251C>A (p.Pro751Thr) | single nucleotide variant | EEM syndrome [RCV001119174] | Chr16:68695894 [GRCh38] Chr16:68729797 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1372C>G (p.Pro458Ala) | single nucleotide variant | not provided [RCV001063680] | Chr16:68684772 [GRCh38] Chr16:68718675 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2115G>A (p.Gly705=) | single nucleotide variant | EEM syndrome [RCV001117573]|not provided [RCV001515115] | Chr16:68695367 [GRCh38] Chr16:68729270 [GRCh37] Chr16:16q22.1 |
benign|uncertain significance |
NM_001793.6(CDH3):c.2227A>G (p.Met743Val) | single nucleotide variant | EEM syndrome [RCV001117574]|not provided [RCV001313226] | Chr16:68695870 [GRCh38] Chr16:68729773 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NC_000016.10:g.(?_68645380)_(68867220_?)dup | duplication | not provided [RCV001032650] | Chr16:68679283..68901123 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2087del (p.Asp696fs) | deletion | EEM syndrome [RCV001196535] | Chr16:68695339 [GRCh38] Chr16:68729242 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
GRCh37/hg19 16q22.1(chr16:68689253-69168290)x3 | copy number gain | not provided [RCV001259861] | Chr16:68689253..69168290 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16q22.1(chr16:68658776-68937123)x3 | copy number gain | not provided [RCV001259863] | Chr16:68658776..68937123 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2305C>T (p.Pro769Ser) | single nucleotide variant | Inborn genetic diseases [RCV002545051]|not provided [RCV001312862] | Chr16:68698215 [GRCh38] Chr16:68732118 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16q22.1(chr16:68584803-68737019)x3 | copy number gain | not provided [RCV001259858] | Chr16:68584803..68737019 [GRCh37] Chr16:16q22.1 |
likely benign |
GRCh37/hg19 16q22.1(chr16:68572832-68817937)x1 | copy number loss | not provided [RCV001259859] | Chr16:68572832..68817937 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
NM_001793.6(CDH3):c.420G>C (p.Lys140Asn) | single nucleotide variant | not provided [RCV001301050] | Chr16:68678530 [GRCh38] Chr16:68712433 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.863G>A (p.Arg288Gln) | single nucleotide variant | not provided [RCV001320058] | Chr16:68679970 [GRCh38] Chr16:68713873 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2174G>A (p.Arg725Lys) | single nucleotide variant | not provided [RCV001342464] | Chr16:68695817 [GRCh38] Chr16:68729720 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1237G>A (p.Glu413Lys) | single nucleotide variant | not provided [RCV001301987] | Chr16:68684637 [GRCh38] Chr16:68718540 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2092G>A (p.Val698Ile) | single nucleotide variant | not provided [RCV001317831] | Chr16:68695344 [GRCh38] Chr16:68729247 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2218C>G (p.Pro740Ala) | single nucleotide variant | not provided [RCV001321406] | Chr16:68695861 [GRCh38] Chr16:68729764 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2191C>T (p.Arg731Cys) | single nucleotide variant | not provided [RCV001340923] | Chr16:68695834 [GRCh38] Chr16:68729737 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1795G>T (p.Gly599Cys) | single nucleotide variant | not provided [RCV001342815] | Chr16:68687736 [GRCh38] Chr16:68721639 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.308G>A (p.Arg103Gln) | single nucleotide variant | not provided [RCV001295547] | Chr16:68678195 [GRCh38] Chr16:68712098 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2323G>T (p.Asp775Tyr) | single nucleotide variant | not provided [RCV001341410] | Chr16:68698233 [GRCh38] Chr16:68732136 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2147C>T (p.Thr716Ile) | single nucleotide variant | not provided [RCV001298512] | Chr16:68695790 [GRCh38] Chr16:68729693 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.837C>T (p.Ile279=) | single nucleotide variant | not provided [RCV001392856] | Chr16:68679944 [GRCh38] Chr16:68713847 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1082C>T (p.Ala361Val) | single nucleotide variant | not provided [RCV001361798] | Chr16:68682387 [GRCh38] Chr16:68716290 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2192G>A (p.Arg731His) | single nucleotide variant | not provided [RCV001367779] | Chr16:68695835 [GRCh38] Chr16:68729738 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1634G>T (p.Gly545Val) | single nucleotide variant | not provided [RCV001359564] | Chr16:68687575 [GRCh38] Chr16:68721478 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.173G>A (p.Cys58Tyr) | single nucleotide variant | not provided [RCV001296441] | Chr16:68676397 [GRCh38] Chr16:68710300 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2280+6G>C | single nucleotide variant | not provided [RCV001348344] | Chr16:68695929 [GRCh38] Chr16:68729832 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NC_000016.9:g.(?_68679283)_(68901123_?)dup | duplication | not provided [RCV001304389] | Chr16:68679283..68901123 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1370A>G (p.Glu457Gly) | single nucleotide variant | not provided [RCV001362516] | Chr16:68684770 [GRCh38] Chr16:68718673 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1199C>G (p.Ala400Gly) | single nucleotide variant | EEM syndrome [RCV002476652]|not provided [RCV001362599] | Chr16:68684599 [GRCh38] Chr16:68718502 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.799G>A (p.Asp267Asn) | single nucleotide variant | Inborn genetic diseases [RCV002550011]|not provided [RCV001360684] | Chr16:68679906 [GRCh38] Chr16:68713809 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2323G>A (p.Asp775Asn) | single nucleotide variant | not provided [RCV001362097] | Chr16:68698233 [GRCh38] Chr16:68732136 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1182+62G>A | single nucleotide variant | not provided [RCV001581550] | Chr16:68682549 [GRCh38] Chr16:68716452 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1211A>G (p.His404Arg) | single nucleotide variant | not provided [RCV001362612] | Chr16:68684611 [GRCh38] Chr16:68718514 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.139C>A (p.Pro47Thr) | single nucleotide variant | not provided [RCV001371160] | Chr16:68645729 [GRCh38] Chr16:68679632 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1121G>A (p.Gly374Glu) | single nucleotide variant | not provided [RCV001339790] | Chr16:68682426 [GRCh38] Chr16:68716329 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1111G>A (p.Gly371Ser) | single nucleotide variant | Inborn genetic diseases [RCV002547018]|not provided [RCV001344771] | Chr16:68682416 [GRCh38] Chr16:68716319 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2386A>G (p.Thr796Ala) | single nucleotide variant | not provided [RCV001309690] | Chr16:68698296 [GRCh38] Chr16:68732199 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2059C>G (p.Leu687Val) | single nucleotide variant | not provided [RCV001370179] | Chr16:68695311 [GRCh38] Chr16:68729214 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.456C>G (p.Ser152Arg) | single nucleotide variant | not provided [RCV001297207] | Chr16:68678566 [GRCh38] Chr16:68712469 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1551G>A (p.Met517Ile) | single nucleotide variant | not provided [RCV001343995] | Chr16:68685331 [GRCh38] Chr16:68719234 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.841G>A (p.Val281Ile) | single nucleotide variant | not provided [RCV001323146] | Chr16:68679948 [GRCh38] Chr16:68713851 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.774_779del (p.His258_Ser259del) | deletion | not provided [RCV001347062] | Chr16:68679878..68679883 [GRCh38] Chr16:68713781..68713786 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.862C>T (p.Arg288Trp) | single nucleotide variant | not provided [RCV001374035] | Chr16:68679969 [GRCh38] Chr16:68713872 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2083C>T (p.Arg695Cys) | single nucleotide variant | not provided [RCV001318961] | Chr16:68695335 [GRCh38] Chr16:68729238 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.478G>A (p.Val160Ile) | single nucleotide variant | not provided [RCV001368991] | Chr16:68678588 [GRCh38] Chr16:68712491 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1624A>G (p.Asn542Asp) | single nucleotide variant | not provided [RCV001341175] | Chr16:68687565 [GRCh38] Chr16:68721468 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.191C>T (p.Ala64Val) | single nucleotide variant | not provided [RCV001347543] | Chr16:68676415 [GRCh38] Chr16:68710318 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1592C>T (p.Thr531Met) | single nucleotide variant | not provided [RCV001325898] | Chr16:68687533 [GRCh38] Chr16:68721436 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NC_000016.9:g.(?_68679283)_(68679653_?)dup | duplication | not provided [RCV001319328] | Chr16:68679283..68679653 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2341G>A (p.Asp781Asn) | single nucleotide variant | not provided [RCV001302376] | Chr16:68698251 [GRCh38] Chr16:68732154 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1301T>C (p.Val434Ala) | single nucleotide variant | not provided [RCV001344331] | Chr16:68684701 [GRCh38] Chr16:68718604 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2041C>T (p.Arg681Trp) | single nucleotide variant | not provided [RCV001316158] | Chr16:68695293 [GRCh38] Chr16:68729196 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2365G>A (p.Ala789Thr) | single nucleotide variant | not provided [RCV001322502] | Chr16:68698275 [GRCh38] Chr16:68732178 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.299G>A (p.Arg100His) | single nucleotide variant | not provided [RCV001344599] | Chr16:68678186 [GRCh38] Chr16:68712089 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1193T>C (p.Phe398Ser) | single nucleotide variant | not provided [RCV001323739] | Chr16:68684593 [GRCh38] Chr16:68718496 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2245G>T (p.Ala749Ser) | single nucleotide variant | not provided [RCV001366327] | Chr16:68695888 [GRCh38] Chr16:68729791 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2364C>A (p.Asp788Glu) | single nucleotide variant | not provided [RCV001324778] | Chr16:68698274 [GRCh38] Chr16:68732177 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1934A>C (p.Glu645Ala) | single nucleotide variant | not provided [RCV001325367] | Chr16:68691858 [GRCh38] Chr16:68725761 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2404C>A (p.Gln802Lys) | single nucleotide variant | not provided [RCV001318003] | Chr16:68698314 [GRCh38] Chr16:68732217 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1093A>G (p.Thr365Ala) | single nucleotide variant | not provided [RCV001318044] | Chr16:68682398 [GRCh38] Chr16:68716301 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1066G>C (p.Ala356Pro) | single nucleotide variant | not provided [RCV001315033] | Chr16:68682371 [GRCh38] Chr16:68716274 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1120G>A (p.Gly374Arg) | single nucleotide variant | not provided [RCV001325891] | Chr16:68682425 [GRCh38] Chr16:68716328 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.434T>C (p.Ile145Thr) | single nucleotide variant | not provided [RCV001316926] | Chr16:68678544 [GRCh38] Chr16:68712447 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.520G>A (p.Asp174Asn) | single nucleotide variant | not provided [RCV001369212] | Chr16:68678630 [GRCh38] Chr16:68712533 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2086G>A (p.Asp696Asn) | single nucleotide variant | not provided [RCV001358907] | Chr16:68695338 [GRCh38] Chr16:68729241 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2240G>A (p.Arg747Gln) | single nucleotide variant | not provided [RCV001306177] | Chr16:68695883 [GRCh38] Chr16:68729786 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1105A>G (p.Met369Val) | single nucleotide variant | not provided [RCV001349337] | Chr16:68682410 [GRCh38] Chr16:68716313 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1933G>A (p.Glu645Lys) | single nucleotide variant | not provided [RCV001339571] | Chr16:68691857 [GRCh38] Chr16:68725760 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2234G>A (p.Arg745His) | single nucleotide variant | not provided [RCV001303941] | Chr16:68695877 [GRCh38] Chr16:68729780 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.582A>C (p.Ser194=) | single nucleotide variant | not provided [RCV001514258] | Chr16:68678797 [GRCh38] Chr16:68712700 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.1566C>T (p.Asp522=) | single nucleotide variant | not provided [RCV001457588] | Chr16:68685346 [GRCh38] Chr16:68719249 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.507G>A (p.Leu169=) | single nucleotide variant | not provided [RCV001500354] | Chr16:68678617 [GRCh38] Chr16:68712520 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2394C>T (p.Ser798=) | single nucleotide variant | not provided [RCV001480299] | Chr16:68698304 [GRCh38] Chr16:68732207 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.456C>T (p.Ser152=) | single nucleotide variant | not provided [RCV001452300] | Chr16:68678566 [GRCh38] Chr16:68712469 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1893G>A (p.Thr631=) | single nucleotide variant | not provided [RCV001418416] | Chr16:68691817 [GRCh38] Chr16:68725720 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2070A>C (p.Pro690=) | single nucleotide variant | not provided [RCV001405726] | Chr16:68695322 [GRCh38] Chr16:68729225 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2355C>T (p.Ser785=) | single nucleotide variant | not provided [RCV001480140] | Chr16:68698265 [GRCh38] Chr16:68732168 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1603C>T (p.Leu535=) | single nucleotide variant | not provided [RCV001474361] | Chr16:68687544 [GRCh38] Chr16:68721447 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2130C>T (p.Asp710=) | single nucleotide variant | not provided [RCV001477159] | Chr16:68695382 [GRCh38] Chr16:68729285 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.997-11C>T | single nucleotide variant | not provided [RCV001475841] | Chr16:68682291 [GRCh38] Chr16:68716194 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1677C>T (p.Ser559=) | single nucleotide variant | not provided [RCV001480643] | Chr16:68687618 [GRCh38] Chr16:68721521 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2281-4G>A | single nucleotide variant | not provided [RCV001456883] | Chr16:68698187 [GRCh38] Chr16:68732090 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1842A>G (p.Thr614=) | single nucleotide variant | not provided [RCV001416040] | Chr16:68691766 [GRCh38] Chr16:68725669 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2091C>T (p.Asn697=) | single nucleotide variant | not provided [RCV001493290] | Chr16:68695343 [GRCh38] Chr16:68729246 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1641C>T (p.Val547=) | single nucleotide variant | not provided [RCV001493329] | Chr16:68687582 [GRCh38] Chr16:68721485 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.45+12C>G | single nucleotide variant | not provided [RCV001454080] | Chr16:68645436 [GRCh38] Chr16:68679339 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1593G>T (p.Thr531=) | single nucleotide variant | not provided [RCV001443329] | Chr16:68687534 [GRCh38] Chr16:68721437 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.391-10T>C | single nucleotide variant | not provided [RCV001406912] | Chr16:68678491 [GRCh38] Chr16:68712394 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1788C>T (p.Asn596=) | single nucleotide variant | not provided [RCV001412012] | Chr16:68687729 [GRCh38] Chr16:68721632 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.315C>T (p.His105=) | single nucleotide variant | not provided [RCV001409967] | Chr16:68678202 [GRCh38] Chr16:68712105 [GRCh37] Chr16:16q22.1 |
likely benign |
NC_000016.9:g.(?_68710288)_(68729826_?)del | deletion | not provided [RCV001389615] | Chr16:68710288..68729826 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.1065C>T (p.Asp355=) | single nucleotide variant | not provided [RCV001430749] | Chr16:68682370 [GRCh38] Chr16:68716273 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1944T>G (p.Pro648=) | single nucleotide variant | not provided [RCV001446757] | Chr16:68691868 [GRCh38] Chr16:68725771 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.162A>G (p.Val54=) | single nucleotide variant | not provided [RCV001405356] | Chr16:68676386 [GRCh38] Chr16:68710289 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2244A>G (p.Pro748=) | single nucleotide variant | not provided [RCV001417289] | Chr16:68695887 [GRCh38] Chr16:68729790 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.708G>A (p.Gln236=) | single nucleotide variant | not provided [RCV001426095] | Chr16:68679815 [GRCh38] Chr16:68713718 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1519C>T (p.Gln507Ter) | single nucleotide variant | not provided [RCV001383806] | Chr16:68685299 [GRCh38] Chr16:68719202 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.1479G>A (p.Gly493=) | single nucleotide variant | not provided [RCV001408043] | Chr16:68685259 [GRCh38] Chr16:68719162 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1074C>T (p.Asn358=) | single nucleotide variant | not provided [RCV001405804] | Chr16:68682379 [GRCh38] Chr16:68716282 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.546+7A>C | single nucleotide variant | not provided [RCV001415989] | Chr16:68678663 [GRCh38] Chr16:68712566 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.46-2A>G | single nucleotide variant | not provided [RCV001377191] | Chr16:68645634 [GRCh38] Chr16:68679537 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
NM_001793.6(CDH3):c.525G>A (p.Arg175=) | single nucleotide variant | not provided [RCV001437904] | Chr16:68678635 [GRCh38] Chr16:68712538 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1758C>T (p.Asp586=) | single nucleotide variant | not provided [RCV001424074] | Chr16:68687699 [GRCh38] Chr16:68721602 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1764C>T (p.Asp588=) | single nucleotide variant | not provided [RCV001417966] | Chr16:68687705 [GRCh38] Chr16:68721608 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1182+12C>T | single nucleotide variant | not provided [RCV001404035] | Chr16:68682499 [GRCh38] Chr16:68716402 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1831_1832del (p.Lys611fs) | deletion | not provided [RCV001390869] | Chr16:68691755..68691756 [GRCh38] Chr16:68725658..68725659 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.2292G>A (p.Ala764=) | single nucleotide variant | not provided [RCV001448123] | Chr16:68698202 [GRCh38] Chr16:68732105 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1182+19C>T | single nucleotide variant | not provided [RCV001435299] | Chr16:68682506 [GRCh38] Chr16:68716409 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2374C>T (p.Leu792=) | single nucleotide variant | not provided [RCV001411532] | Chr16:68698284 [GRCh38] Chr16:68732187 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1818G>A (p.Leu606=) | single nucleotide variant | not provided [RCV001489841] | Chr16:68691742 [GRCh38] Chr16:68725645 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1404C>T (p.Asp468=) | single nucleotide variant | not provided [RCV001478411] | Chr16:68684804 [GRCh38] Chr16:68718707 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2370G>A (p.Ala790=) | single nucleotide variant | not provided [RCV001498969] | Chr16:68698280 [GRCh38] Chr16:68732183 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1861C>T (p.Leu621=) | single nucleotide variant | not provided [RCV001457533] | Chr16:68691785 [GRCh38] Chr16:68725688 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.549C>T (p.Leu183=) | single nucleotide variant | not provided [RCV001506144] | Chr16:68678764 [GRCh38] Chr16:68712667 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.692-247G>A | single nucleotide variant | not provided [RCV001694691] | Chr16:68679552 [GRCh38] Chr16:68713455 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.276A>C (p.Pro92=) | single nucleotide variant | not provided [RCV001450516] | Chr16:68678163 [GRCh38] Chr16:68712066 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1236C>T (p.Asn412=) | single nucleotide variant | not provided [RCV001514886] | Chr16:68684636 [GRCh38] Chr16:68718539 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.868-17C>T | single nucleotide variant | not provided [RCV001509799] | Chr16:68680951 [GRCh38] Chr16:68714854 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.247-194del | deletion | not provided [RCV001687798] | Chr16:68677927 [GRCh38] Chr16:68711830 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.702G>A (p.Val234=) | single nucleotide variant | not provided [RCV001480196] | Chr16:68679809 [GRCh38] Chr16:68713712 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.692-129G>C | single nucleotide variant | not provided [RCV001713527] | Chr16:68679670 [GRCh38] Chr16:68713573 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.2367C>T (p.Ala789=) | single nucleotide variant | not provided [RCV001437971] | Chr16:68698277 [GRCh38] Chr16:68732180 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1614G>A (p.Leu538=) | single nucleotide variant | not provided [RCV001419047] | Chr16:68687555 [GRCh38] Chr16:68721458 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1424+7A>T | single nucleotide variant | not provided [RCV001436079] | Chr16:68684831 [GRCh38] Chr16:68718734 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1568A>G (p.Asn523Ser) | single nucleotide variant | not provided [RCV001513815] | Chr16:68685348 [GRCh38] Chr16:68719251 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.1796-6C>T | single nucleotide variant | not provided [RCV001481597] | Chr16:68691714 [GRCh38] Chr16:68725617 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.882C>T (p.Tyr294=) | single nucleotide variant | not provided [RCV001481690] | Chr16:68680982 [GRCh38] Chr16:68714885 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2031G>A (p.Val677=) | single nucleotide variant | not provided [RCV001504877] | Chr16:68695283 [GRCh38] Chr16:68729186 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.684C>T (p.Val228=) | single nucleotide variant | not provided [RCV001432125] | Chr16:68678899 [GRCh38] Chr16:68712802 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.966T>C (p.Asn322=) | single nucleotide variant | not provided [RCV001415910] | Chr16:68681066 [GRCh38] Chr16:68714969 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1584C>T (p.Thr528=) | single nucleotide variant | not provided [RCV001392886] | Chr16:68687525 [GRCh38] Chr16:68721428 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1338C>T (p.Val446=) | single nucleotide variant | not provided [RCV001434552] | Chr16:68684738 [GRCh38] Chr16:68718641 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1503C>G (p.Leu501=) | single nucleotide variant | not provided [RCV001485202] | Chr16:68685283 [GRCh38] Chr16:68719186 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2280+10G>A | single nucleotide variant | not provided [RCV001503958] | Chr16:68695933 [GRCh38] Chr16:68729836 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.547-15C>T | single nucleotide variant | not provided [RCV001426405] | Chr16:68678747 [GRCh38] Chr16:68712650 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2281-17G>A | single nucleotide variant | not provided [RCV001456296] | Chr16:68698174 [GRCh38] Chr16:68732077 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.547-6C>T | single nucleotide variant | not provided [RCV001437458] | Chr16:68678756 [GRCh38] Chr16:68712659 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.975T>C (p.Ala325=) | single nucleotide variant | not provided [RCV001394256] | Chr16:68681075 [GRCh38] Chr16:68714978 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.665_666dup (p.Ser223fs) | duplication | Hypotrichosis simplex [RCV002248476] | Chr16:68678878..68678879 [GRCh38] Chr16:68712781..68712782 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.2084G>A (p.Arg695His) | single nucleotide variant | not provided [RCV001769406] | Chr16:68695336 [GRCh38] Chr16:68729239 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1583C>T (p.Thr528Ile) | single nucleotide variant | not provided [RCV001773971] | Chr16:68687524 [GRCh38] Chr16:68721427 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.160+1G>A | single nucleotide variant | Congenital hypotrichosis with juvenile macular dystrophy [RCV002300590]|not provided [RCV001780469] | Chr16:68645751 [GRCh38] Chr16:68679654 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.1238A>C (p.Glu413Ala) | single nucleotide variant | not provided [RCV001756856] | Chr16:68684638 [GRCh38] Chr16:68718541 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2335G>A (p.Val779Met) | single nucleotide variant | not provided [RCV001908006] | Chr16:68698245 [GRCh38] Chr16:68732148 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.227G>A (p.Arg76Gln) | single nucleotide variant | not provided [RCV001929209] | Chr16:68676451 [GRCh38] Chr16:68710354 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1642C>T (p.Pro548Ser) | single nucleotide variant | not provided [RCV001987097] | Chr16:68687583 [GRCh38] Chr16:68721486 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.662G>A (p.Arg221Gln) | single nucleotide variant | Inborn genetic diseases [RCV003247053]|not provided [RCV001863549] | Chr16:68678877 [GRCh38] Chr16:68712780 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1223T>C (p.Val408Ala) | single nucleotide variant | not provided [RCV001895740] | Chr16:68684623 [GRCh38] Chr16:68718526 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NC_000016.9:g.(?_68697395)_(68713970_?)dup | duplication | not provided [RCV002004405] | Chr16:68697395..68713970 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
NM_001793.6(CDH3):c.2280+1dup | duplication | not provided [RCV001929476] | Chr16:68695922..68695923 [GRCh38] Chr16:68729825..68729826 [GRCh37] Chr16:16q22.1 |
likely pathogenic|uncertain significance |
NM_001793.6(CDH3):c.1689_1690delinsCA (p.Gln563_Val564delinsHisMet) | indel | not provided [RCV001892655] | Chr16:68687630..68687631 [GRCh38] Chr16:68721533..68721534 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1085G>C (p.Trp362Ser) | single nucleotide variant | not provided [RCV002045025] | Chr16:68682390 [GRCh38] Chr16:68716293 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2240G>T (p.Arg747Leu) | single nucleotide variant | not provided [RCV002008844] | Chr16:68695883 [GRCh38] Chr16:68729786 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2281A>G (p.Asn761Asp) | single nucleotide variant | not provided [RCV002043662] | Chr16:68698191 [GRCh38] Chr16:68732094 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.546+9C>G | single nucleotide variant | not provided [RCV001874057] | Chr16:68678665 [GRCh38] Chr16:68712568 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2405A>G (p.Gln802Arg) | single nucleotide variant | not provided [RCV002040226] | Chr16:68698315 [GRCh38] Chr16:68732218 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1033G>A (p.Glu345Lys) | single nucleotide variant | not provided [RCV001893084] | Chr16:68682338 [GRCh38] Chr16:68716241 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2177C>T (p.Pro726Leu) | single nucleotide variant | not provided [RCV001907890] | Chr16:68695820 [GRCh38] Chr16:68729723 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2374del (p.Ser791_Leu792insTer) | deletion | not provided [RCV002022041] | Chr16:68698282 [GRCh38] Chr16:68732185 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NC_000016.9:g.(?_68710268)_(68713897_?)dup | duplication | not provided [RCV002004396] | Chr16:68710268..68713897 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
NM_001793.6(CDH3):c.2386A>C (p.Thr796Pro) | single nucleotide variant | not provided [RCV002042449] | Chr16:68698296 [GRCh38] Chr16:68732199 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.475G>A (p.Ala159Thr) | single nucleotide variant | EEM syndrome [RCV002507002]|not provided [RCV001908732] | Chr16:68678585 [GRCh38] Chr16:68712488 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2239C>T (p.Arg747Trp) | single nucleotide variant | not provided [RCV001965591] | Chr16:68695882 [GRCh38] Chr16:68729785 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1571G>A (p.Gly524Glu) | single nucleotide variant | not provided [RCV002005168] | Chr16:68687512 [GRCh38] Chr16:68721415 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1147C>G (p.Pro383Ala) | single nucleotide variant | not provided [RCV001986587] | Chr16:68682452 [GRCh38] Chr16:68716355 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.283A>G (p.Ile95Val) | single nucleotide variant | not provided [RCV001966253] | Chr16:68678170 [GRCh38] Chr16:68712073 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NC_000016.9:g.(?_68679283)_(68679673_?)dup | duplication | not provided [RCV002020570] | Chr16:68679283..68679673 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.926C>T (p.Thr309Ile) | single nucleotide variant | not provided [RCV001964774] | Chr16:68681026 [GRCh38] Chr16:68714929 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.448G>A (p.Ala150Thr) | single nucleotide variant | not provided [RCV001983876] | Chr16:68678558 [GRCh38] Chr16:68712461 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1349A>G (p.Gln450Arg) | single nucleotide variant | not provided [RCV001968413] | Chr16:68684749 [GRCh38] Chr16:68718652 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1474A>G (p.Ser492Gly) | single nucleotide variant | not provided [RCV001984452] | Chr16:68685254 [GRCh38] Chr16:68719157 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1810T>G (p.Leu604Val) | single nucleotide variant | not provided [RCV002021219] | Chr16:68691734 [GRCh38] Chr16:68725637 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2320T>G (p.Tyr774Asp) | single nucleotide variant | not provided [RCV002021257] | Chr16:68698230 [GRCh38] Chr16:68732133 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1837dup (p.Asp613fs) | duplication | not provided [RCV001948728] | Chr16:68691759..68691760 [GRCh38] Chr16:68725662..68725663 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.2476G>A (p.Gly826Arg) | single nucleotide variant | not provided [RCV001895200] | Chr16:68698386 [GRCh38] Chr16:68732289 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2329C>T (p.Leu777Phe) | single nucleotide variant | not provided [RCV002007753] | Chr16:68698239 [GRCh38] Chr16:68732142 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16q22.1(chr16:68684521-68905837)x3 | copy number gain | not provided [RCV001827732] | Chr16:68684521..68905837 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1651C>T (p.Arg551Cys) | single nucleotide variant | Inborn genetic diseases [RCV002555214]|not provided [RCV001912453] | Chr16:68687592 [GRCh38] Chr16:68721495 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.59A>G (p.Gln20Arg) | single nucleotide variant | not provided [RCV002023578] | Chr16:68645649 [GRCh38] Chr16:68679552 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2016GCT[1] (p.Leu676del) | microsatellite | not provided [RCV002041913] | Chr16:68695267..68695269 [GRCh38] Chr16:68729170..68729172 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.691+1G>C | single nucleotide variant | not provided [RCV002005731] | Chr16:68678907 [GRCh38] Chr16:68712810 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
NC_000016.9:g.(?_68679283)_(68867402_?)dup | duplication | not provided [RCV002020569] | Chr16:68679283..68867402 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2215A>T (p.Ile739Phe) | single nucleotide variant | not provided [RCV001911089] | Chr16:68695858 [GRCh38] Chr16:68729761 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1609A>T (p.Thr537Ser) | single nucleotide variant | not provided [RCV002018161] | Chr16:68687550 [GRCh38] Chr16:68721453 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2105G>C (p.Gly702Ala) | single nucleotide variant | not provided [RCV001941022] | Chr16:68695357 [GRCh38] Chr16:68729260 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.340A>G (p.Ile114Val) | single nucleotide variant | not provided [RCV001980178] | Chr16:68678227 [GRCh38] Chr16:68712130 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.578C>T (p.Ala193Val) | single nucleotide variant | not provided [RCV001886773] | Chr16:68678793 [GRCh38] Chr16:68712696 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1214C>T (p.Thr405Ile) | single nucleotide variant | not provided [RCV002000440] | Chr16:68684614 [GRCh38] Chr16:68718517 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2002+2T>G | single nucleotide variant | not provided [RCV001980794] | Chr16:68691928 [GRCh38] Chr16:68725831 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
NM_001793.6(CDH3):c.559G>T (p.Ala187Ser) | single nucleotide variant | not provided [RCV001904014] | Chr16:68678774 [GRCh38] Chr16:68712677 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.46-2A>T | single nucleotide variant | not provided [RCV002033713] | Chr16:68645634 [GRCh38] Chr16:68679537 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
NM_001793.6(CDH3):c.1699A>G (p.Ile567Val) | single nucleotide variant | not provided [RCV002035110] | Chr16:68687640 [GRCh38] Chr16:68721543 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1902G>T (p.Arg634Ser) | single nucleotide variant | not provided [RCV001926284] | Chr16:68691826 [GRCh38] Chr16:68725729 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.271A>T (p.Asn91Tyr) | single nucleotide variant | not provided [RCV002038273] | Chr16:68678158 [GRCh38] Chr16:68712061 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1121G>C (p.Gly374Ala) | single nucleotide variant | not provided [RCV002001002] | Chr16:68682426 [GRCh38] Chr16:68716329 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.46-1G>C | single nucleotide variant | not provided [RCV001977515] | Chr16:68645635 [GRCh38] Chr16:68679538 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
NM_001793.6(CDH3):c.1483G>T (p.Val495Phe) | single nucleotide variant | not provided [RCV002026473] | Chr16:68685263 [GRCh38] Chr16:68719166 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1703C>G (p.Thr568Arg) | single nucleotide variant | not provided [RCV001977834] | Chr16:68687644 [GRCh38] Chr16:68721547 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.590A>G (p.Asp197Gly) | single nucleotide variant | not provided [RCV001962778] | Chr16:68678805 [GRCh38] Chr16:68712708 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1398C>A (p.Asp466Glu) | single nucleotide variant | not provided [RCV002038036] | Chr16:68684798 [GRCh38] Chr16:68718701 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.322G>C (p.Asp108His) | single nucleotide variant | not provided [RCV001973879] | Chr16:68678209 [GRCh38] Chr16:68712112 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NC_000016.9:g.(?_66545871)_(72146396_?)dup | duplication | Dyskeratosis congenita, autosomal dominant 6 [RCV001900384]|Immunodeficiency [RCV001900385]|not provided [RCV001900386] | Chr16:66545871..72146396 [GRCh37] Chr16:16q21-22.2 |
uncertain significance |
NM_001793.6(CDH3):c.13C>T (p.Arg5Cys) | single nucleotide variant | not provided [RCV002046972] | Chr16:68645392 [GRCh38] Chr16:68679295 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.824G>T (p.Ser275Ile) | single nucleotide variant | not provided [RCV001882343] | Chr16:68679931 [GRCh38] Chr16:68713834 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.965A>G (p.Asn322Ser) | single nucleotide variant | not provided [RCV001867589] | Chr16:68681065 [GRCh38] Chr16:68714968 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2228T>C (p.Met743Thr) | single nucleotide variant | not provided [RCV002015735] | Chr16:68695871 [GRCh38] Chr16:68729774 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1724A>G (p.His575Arg) | single nucleotide variant | not provided [RCV002009780] | Chr16:68687665 [GRCh38] Chr16:68721568 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.214G>A (p.Asp72Asn) | single nucleotide variant | not provided [RCV001875480] | Chr16:68676438 [GRCh38] Chr16:68710341 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1765A>T (p.Ile589Phe) | single nucleotide variant | not provided [RCV001956765] | Chr16:68687706 [GRCh38] Chr16:68721609 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.914G>A (p.Gly305Glu) | single nucleotide variant | not provided [RCV001879600] | Chr16:68681014 [GRCh38] Chr16:68714917 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.523C>T (p.Arg175Trp) | single nucleotide variant | not provided [RCV001878510] | Chr16:68678633 [GRCh38] Chr16:68712536 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2003-2A>G | single nucleotide variant | not provided [RCV002012719] | Chr16:68695253 [GRCh38] Chr16:68729156 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
NM_001793.6(CDH3):c.2230T>C (p.Tyr744His) | single nucleotide variant | not provided [RCV002033271] | Chr16:68695873 [GRCh38] Chr16:68729776 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2420A>G (p.Asp807Gly) | single nucleotide variant | not provided [RCV001932252] | Chr16:68698330 [GRCh38] Chr16:68732233 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.385A>C (p.Asn129His) | single nucleotide variant | not provided [RCV001957494] | Chr16:68678272 [GRCh38] Chr16:68712175 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1789G>A (p.Glu597Lys) | single nucleotide variant | not provided [RCV002027995] | Chr16:68687730 [GRCh38] Chr16:68721633 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1054A>G (p.Thr352Ala) | single nucleotide variant | not provided [RCV001934921] | Chr16:68682359 [GRCh38] Chr16:68716262 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1609A>G (p.Thr537Ala) | single nucleotide variant | not provided [RCV002019388] | Chr16:68687550 [GRCh38] Chr16:68721453 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.772C>A (p.His258Asn) | single nucleotide variant | not provided [RCV001956713] | Chr16:68679879 [GRCh38] Chr16:68713782 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.813del (p.Ile272fs) | deletion | not provided [RCV001958529] | Chr16:68679919 [GRCh38] Chr16:68713822 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.980T>C (p.Met327Thr) | single nucleotide variant | not provided [RCV001938473] | Chr16:68681080 [GRCh38] Chr16:68714983 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1961G>A (p.Gly654Asp) | single nucleotide variant | not provided [RCV001997666] | Chr16:68691885 [GRCh38] Chr16:68725788 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2003-8C>A | single nucleotide variant | not provided [RCV002018862] | Chr16:68695247 [GRCh38] Chr16:68729150 [GRCh37] Chr16:16q22.1 |
likely benign|uncertain significance |
NM_001793.6(CDH3):c.2308dup (p.Thr770fs) | duplication | not provided [RCV001877648] | Chr16:68698217..68698218 [GRCh38] Chr16:68732120..68732121 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1537A>T (p.Ile513Phe) | single nucleotide variant | not provided [RCV001920640] | Chr16:68685317 [GRCh38] Chr16:68719220 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2381C>G (p.Ser794Cys) | single nucleotide variant | not provided [RCV001877713] | Chr16:68698291 [GRCh38] Chr16:68732194 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1507C>T (p.Arg503Cys) | single nucleotide variant | not provided [RCV001905275] | Chr16:68685287 [GRCh38] Chr16:68719190 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.833C>A (p.Thr278Asn) | single nucleotide variant | not provided [RCV002028526] | Chr16:68679940 [GRCh38] Chr16:68713843 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1429C>T (p.Arg477Cys) | single nucleotide variant | not provided [RCV001992650] | Chr16:68685209 [GRCh38] Chr16:68719112 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1850_1851del (p.Val617fs) | deletion | not provided [RCV001956090] | Chr16:68691773..68691774 [GRCh38] Chr16:68725676..68725677 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.1715T>G (p.Leu572Arg) | single nucleotide variant | not provided [RCV002009461] | Chr16:68687656 [GRCh38] Chr16:68721559 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.661C>T (p.Arg221Ter) | single nucleotide variant | Congenital hypotrichosis with juvenile macular dystrophy [RCV002300633]|not provided [RCV001960593] | Chr16:68678876 [GRCh38] Chr16:68712779 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.349C>A (p.Pro117Thr) | single nucleotide variant | not provided [RCV001917145] | Chr16:68678236 [GRCh38] Chr16:68712139 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.578C>A (p.Ala193Asp) | single nucleotide variant | not provided [RCV002028925] | Chr16:68678793 [GRCh38] Chr16:68712696 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.390+4C>T | single nucleotide variant | not provided [RCV002048929] | Chr16:68678281 [GRCh38] Chr16:68712184 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NC_000016.9:g.(?_68679283)_(68679673_?)del | deletion | not provided [RCV001951389] | Chr16:68679283..68679673 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.1290C>T (p.His430=) | single nucleotide variant | not provided [RCV001905037] | Chr16:68684690 [GRCh38] Chr16:68718593 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2114G>C (p.Gly705Ala) | single nucleotide variant | not provided [RCV001901597] | Chr16:68695366 [GRCh38] Chr16:68729269 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1086G>A (p.Trp362Ter) | single nucleotide variant | Congenital hypotrichosis with juvenile macular dystrophy [RCV002464042]|not provided [RCV001975159] | Chr16:68682391 [GRCh38] Chr16:68716294 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.1175C>T (p.Thr392Ile) | single nucleotide variant | not provided [RCV001897915] | Chr16:68682480 [GRCh38] Chr16:68716383 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.230A>G (p.Asn77Ser) | single nucleotide variant | not provided [RCV001991544] | Chr16:68676454 [GRCh38] Chr16:68710357 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.118dup (p.Ala40fs) | duplication | not provided [RCV001972642] | Chr16:68645706..68645707 [GRCh38] Chr16:68679609..68679610 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.785C>T (p.Pro262Leu) | single nucleotide variant | not provided [RCV001998494] | Chr16:68679892 [GRCh38] Chr16:68713795 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.600C>A (p.Asn200Lys) | single nucleotide variant | not provided [RCV001907020] | Chr16:68678815 [GRCh38] Chr16:68712718 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1424+1G>C | single nucleotide variant | not provided [RCV002019655] | Chr16:68684825 [GRCh38] Chr16:68718728 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
NM_001793.6(CDH3):c.2170G>T (p.Ala724Ser) | single nucleotide variant | not provided [RCV001998967] | Chr16:68695813 [GRCh38] Chr16:68729716 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.233G>T (p.Gly78Val) | single nucleotide variant | not provided [RCV001990823] | Chr16:68676457 [GRCh38] Chr16:68710360 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1589G>A (p.Gly530Asp) | single nucleotide variant | not provided [RCV001977448] | Chr16:68687530 [GRCh38] Chr16:68721433 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2389TCC[1] (p.Ser798del) | microsatellite | not provided [RCV001935006] | Chr16:68698297..68698299 [GRCh38] Chr16:68732200..68732202 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.493G>A (p.Gly165Ser) | single nucleotide variant | not provided [RCV001915879] | Chr16:68678603 [GRCh38] Chr16:68712506 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1154G>A (p.Ser385Asn) | single nucleotide variant | Inborn genetic diseases [RCV002571363]|not provided [RCV001977636] | Chr16:68682459 [GRCh38] Chr16:68716362 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.33CCT[1] (p.Leu14del) | microsatellite | not provided [RCV001958255] | Chr16:68645410..68645412 [GRCh38] Chr16:68679313..68679315 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.868-2A>T | single nucleotide variant | not provided [RCV001990426] | Chr16:68680966 [GRCh38] Chr16:68714869 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
NM_001793.6(CDH3):c.1371G>T (p.Glu457Asp) | single nucleotide variant | not provided [RCV001881595] | Chr16:68684771 [GRCh38] Chr16:68718674 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1229T>C (p.Val410Ala) | single nucleotide variant | not provided [RCV002049268] | Chr16:68684629 [GRCh38] Chr16:68718532 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.348C>T (p.Val116=) | single nucleotide variant | not provided [RCV002210168] | Chr16:68678235 [GRCh38] Chr16:68712138 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1143C>T (p.Thr381=) | single nucleotide variant | not provided [RCV002192218] | Chr16:68682448 [GRCh38] Chr16:68716351 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1570+12C>T | single nucleotide variant | not provided [RCV002192728] | Chr16:68685362 [GRCh38] Chr16:68719265 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2001G>C (p.Leu667=) | single nucleotide variant | not provided [RCV002170334] | Chr16:68691925 [GRCh38] Chr16:68725828 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.997-16C>T | single nucleotide variant | not provided [RCV002169013] | Chr16:68682286 [GRCh38] Chr16:68716189 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2304C>T (p.Asp768=) | single nucleotide variant | not provided [RCV002206403] | Chr16:68698214 [GRCh38] Chr16:68732117 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1845T>C (p.Tyr615=) | single nucleotide variant | not provided [RCV002147974] | Chr16:68691769 [GRCh38] Chr16:68725672 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.930C>T (p.Thr310=) | single nucleotide variant | not provided [RCV002148044] | Chr16:68681030 [GRCh38] Chr16:68714933 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1416A>G (p.Gln472=) | single nucleotide variant | not provided [RCV002167541] | Chr16:68684816 [GRCh38] Chr16:68718719 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2281-14C>T | single nucleotide variant | not provided [RCV002209026] | Chr16:68698177 [GRCh38] Chr16:68732080 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1914C>T (p.Cys638=) | single nucleotide variant | not provided [RCV002110453] | Chr16:68691838 [GRCh38] Chr16:68725741 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.45+13C>G | single nucleotide variant | not provided [RCV002190895] | Chr16:68645437 [GRCh38] Chr16:68679340 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2268C>T (p.Asn756=) | single nucleotide variant | not provided [RCV002126333] | Chr16:68695911 [GRCh38] Chr16:68729814 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.867+12_867+33del | deletion | not provided [RCV002207955] | Chr16:68679983..68680004 [GRCh38] Chr16:68713886..68713907 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.390+17T>C | single nucleotide variant | not provided [RCV002209755] | Chr16:68678294 [GRCh38] Chr16:68712197 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.277T>C (p.Leu93=) | single nucleotide variant | not provided [RCV002134348] | Chr16:68678164 [GRCh38] Chr16:68712067 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1932C>G (p.Val644=) | single nucleotide variant | not provided [RCV002174205] | Chr16:68691856 [GRCh38] Chr16:68725759 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1182+8A>C | single nucleotide variant | not provided [RCV002094025] | Chr16:68682495 [GRCh38] Chr16:68716398 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1796-14T>A | single nucleotide variant | not provided [RCV002173382] | Chr16:68691706 [GRCh38] Chr16:68725609 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.161-8C>A | single nucleotide variant | not provided [RCV002132862] | Chr16:68676377 [GRCh38] Chr16:68710280 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1806G>C (p.Val602=) | single nucleotide variant | not provided [RCV002126127] | Chr16:68691730 [GRCh38] Chr16:68725633 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2352C>T (p.Gly784=) | single nucleotide variant | not provided [RCV002213088] | Chr16:68698262 [GRCh38] Chr16:68732165 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.642G>A (p.Lys214=) | single nucleotide variant | not provided [RCV002109527] | Chr16:68678857 [GRCh38] Chr16:68712760 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1104C>T (p.Ile368=) | single nucleotide variant | not provided [RCV002131339] | Chr16:68682409 [GRCh38] Chr16:68716312 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.46-18C>T | single nucleotide variant | not provided [RCV002195741] | Chr16:68645618 [GRCh38] Chr16:68679521 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.573T>C (p.Asn191=) | single nucleotide variant | not provided [RCV002071542] | Chr16:68678788 [GRCh38] Chr16:68712691 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1662C>T (p.Thr554=) | single nucleotide variant | not provided [RCV002095390] | Chr16:68687603 [GRCh38] Chr16:68721506 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.391-18A>T | single nucleotide variant | not provided [RCV002171579] | Chr16:68678483 [GRCh38] Chr16:68712386 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1116C>T (p.Asp372=) | single nucleotide variant | not provided [RCV002116883] | Chr16:68682421 [GRCh38] Chr16:68716324 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2281-5C>T | single nucleotide variant | not provided [RCV002186244] | Chr16:68698186 [GRCh38] Chr16:68732089 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1795+20T>C | single nucleotide variant | not provided [RCV002168465] | Chr16:68687756 [GRCh38] Chr16:68721659 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.102T>C (p.Ala34=) | single nucleotide variant | not provided [RCV002192775] | Chr16:68645692 [GRCh38] Chr16:68679595 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.840C>T (p.Ser280=) | single nucleotide variant | not provided [RCV002194192] | Chr16:68679947 [GRCh38] Chr16:68713850 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1503C>T (p.Leu501=) | single nucleotide variant | not provided [RCV002165738] | Chr16:68685283 [GRCh38] Chr16:68719186 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2003-16T>A | single nucleotide variant | not provided [RCV002165748] | Chr16:68695239 [GRCh38] Chr16:68729142 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2142C>T (p.Asp714=) | single nucleotide variant | not provided [RCV002146278] | Chr16:68695785 [GRCh38] Chr16:68729688 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2133+14_2133+22del | deletion | not provided [RCV002115959] | Chr16:68695394..68695402 [GRCh38] Chr16:68729297..68729305 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.1182+13G>C | single nucleotide variant | not provided [RCV002096901] | Chr16:68682500 [GRCh38] Chr16:68716403 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.108G>A (p.Val36=) | single nucleotide variant | not provided [RCV002170746] | Chr16:68645698 [GRCh38] Chr16:68679601 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.753G>A (p.Gly251=) | single nucleotide variant | not provided [RCV002149539] | Chr16:68679860 [GRCh38] Chr16:68713763 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1183-15C>T | single nucleotide variant | not provided [RCV002076865] | Chr16:68684568 [GRCh38] Chr16:68718471 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.618C>T (p.Thr206=) | single nucleotide variant | not provided [RCV002094885] | Chr16:68678833 [GRCh38] Chr16:68712736 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1467C>T (p.Asp489=) | single nucleotide variant | not provided [RCV002171565] | Chr16:68685247 [GRCh38] Chr16:68719150 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1746G>A (p.Gln582=) | single nucleotide variant | not provided [RCV002151564] | Chr16:68687687 [GRCh38] Chr16:68721590 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1347C>G (p.Val449=) | single nucleotide variant | not provided [RCV002202781] | Chr16:68684747 [GRCh38] Chr16:68718650 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2316G>A (p.Pro772=) | single nucleotide variant | not provided [RCV002161339] | Chr16:68698226 [GRCh38] Chr16:68732129 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.160+11C>T | single nucleotide variant | not provided [RCV002153913] | Chr16:68645761 [GRCh38] Chr16:68679664 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1038G>A (p.Val346=) | single nucleotide variant | not provided [RCV002156538] | Chr16:68682343 [GRCh38] Chr16:68716246 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.246+10C>G | single nucleotide variant | not provided [RCV002162108] | Chr16:68676480 [GRCh38] Chr16:68710383 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.6G>A (p.Gly2=) | single nucleotide variant | not provided [RCV002099756] | Chr16:68645385 [GRCh38] Chr16:68679288 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2164C>T (p.Leu722=) | single nucleotide variant | not provided [RCV002161151] | Chr16:68695807 [GRCh38] Chr16:68729710 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.249A>G (p.Glu83=) | single nucleotide variant | not provided [RCV002084114] | Chr16:68678136 [GRCh38] Chr16:68712039 [GRCh37] Chr16:16q22.1 |
likely benign |
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 | copy number gain | not provided [RCV002221458] | Chr16:46503968..90155062 [GRCh37] Chr16:16q11.2-24.3 |
pathogenic |
NM_001793.6(CDH3):c.1560C>T (p.Ala520=) | single nucleotide variant | not provided [RCV002138206] | Chr16:68685340 [GRCh38] Chr16:68719243 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2134-14G>A | single nucleotide variant | not provided [RCV002101038] | Chr16:68695763 [GRCh38] Chr16:68729666 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2262C>T (p.Ile754=) | single nucleotide variant | not provided [RCV002118614] | Chr16:68695905 [GRCh38] Chr16:68729808 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1424+11G>A | single nucleotide variant | not provided [RCV002161559] | Chr16:68684835 [GRCh38] Chr16:68718738 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1796-8C>T | single nucleotide variant | not provided [RCV002161606] | Chr16:68691712 [GRCh38] Chr16:68725615 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1714C>T (p.Leu572=) | single nucleotide variant | not provided [RCV002139841] | Chr16:68687655 [GRCh38] Chr16:68721558 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2280+16C>G | single nucleotide variant | not provided [RCV002183923] | Chr16:68695939 [GRCh38] Chr16:68729842 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1497C>G (p.Gly499=) | single nucleotide variant | not provided [RCV002156965] | Chr16:68685277 [GRCh38] Chr16:68719180 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1182+9G>A | single nucleotide variant | not provided [RCV002160880] | Chr16:68682496 [GRCh38] Chr16:68716399 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1571-20A>G | single nucleotide variant | not provided [RCV002121056] | Chr16:68687492 [GRCh38] Chr16:68721395 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2281-5C>G | single nucleotide variant | not provided [RCV003114818] | Chr16:68698186 [GRCh38] Chr16:68732089 [GRCh37] Chr16:16q22.1 |
likely benign |
NC_000016.9:g.(?_68679283)_(68857549_?)dup | duplication | Hereditary diffuse gastric adenocarcinoma [RCV003113447] | Chr16:68679283..68857549 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NC_000016.9:g.(?_65821800)_(72146396_?)del | deletion | Dyskeratosis congenita, autosomal dominant 6 [RCV003122496] | Chr16:65821800..72146396 [GRCh37] Chr16:16q21-22.2 |
uncertain significance |
NM_001793.6(CDH3):c.161-23C>T | single nucleotide variant | not provided [RCV003129267] | Chr16:68676362 [GRCh38] Chr16:68710265 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.958G>A (p.Asp320Asn) | single nucleotide variant | Congenital hypotrichosis with juvenile macular dystrophy [RCV003148485]|EEM syndrome [RCV003148486] | Chr16:68681058 [GRCh38] Chr16:68714961 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2236C>T (p.Pro746Ser) | single nucleotide variant | not provided [RCV002260741] | Chr16:68695879 [GRCh38] Chr16:68729782 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1561A>G (p.Met521Val) | single nucleotide variant | not provided [RCV002297155] | Chr16:68685341 [GRCh38] Chr16:68719244 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.743C>A (p.Thr248Asn) | single nucleotide variant | Inborn genetic diseases [RCV003164504]|not provided [RCV002297438] | Chr16:68679850 [GRCh38] Chr16:68713753 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1424+4C>T | single nucleotide variant | not provided [RCV002991374] | Chr16:68684828 [GRCh38] Chr16:68718731 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.532A>G (p.Ile178Val) | single nucleotide variant | not provided [RCV002301722] | Chr16:68678642 [GRCh38] Chr16:68712545 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1869C>A (p.Asp623Glu) | single nucleotide variant | not provided [RCV002299959] | Chr16:68691793 [GRCh38] Chr16:68725696 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1758C>G (p.Asp586Glu) | single nucleotide variant | not provided [RCV002301311] | Chr16:68687699 [GRCh38] Chr16:68721602 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2407G>A (p.Asp803Asn) | single nucleotide variant | not provided [RCV002299393] | Chr16:68698317 [GRCh38] Chr16:68732220 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2165T>C (p.Leu722Pro) | single nucleotide variant | not provided [RCV002837535] | Chr16:68695808 [GRCh38] Chr16:68729711 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1104_1106del (p.Ile368del) | deletion | not provided [RCV003033461] | Chr16:68682407..68682409 [GRCh38] Chr16:68716310..68716312 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.78G>C (p.Pro26=) | single nucleotide variant | not provided [RCV002731050] | Chr16:68645668 [GRCh38] Chr16:68679571 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1668C>T (p.Cys556=) | single nucleotide variant | not provided [RCV002861876] | Chr16:68687609 [GRCh38] Chr16:68721512 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.77C>G (p.Pro26Arg) | single nucleotide variant | Inborn genetic diseases [RCV002729333] | Chr16:68645667 [GRCh38] Chr16:68679570 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.446G>A (p.Gly149Glu) | single nucleotide variant | not provided [RCV002617030] | Chr16:68678556 [GRCh38] Chr16:68712459 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1146C>G (p.His382Gln) | single nucleotide variant | not provided [RCV002636162] | Chr16:68682451 [GRCh38] Chr16:68716354 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.45+12C>T | single nucleotide variant | not provided [RCV002618307] | Chr16:68645436 [GRCh38] Chr16:68679339 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.873C>G (p.Val291=) | single nucleotide variant | not provided [RCV002685513] | Chr16:68680973 [GRCh38] Chr16:68714876 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.103G>A (p.Glu35Lys) | single nucleotide variant | not provided [RCV003032743] | Chr16:68645693 [GRCh38] Chr16:68679596 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.178G>C (p.Gly60Arg) | single nucleotide variant | not provided [RCV002754958] | Chr16:68676402 [GRCh38] Chr16:68710305 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2441G>A (p.Ser814Asn) | single nucleotide variant | not provided [RCV002751100] | Chr16:68698351 [GRCh38] Chr16:68732254 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1796-13C>T | single nucleotide variant | not provided [RCV002815473] | Chr16:68691707 [GRCh38] Chr16:68725610 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2280+11G>C | single nucleotide variant | not provided [RCV003032564] | Chr16:68695934 [GRCh38] Chr16:68729837 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1465G>A (p.Asp489Asn) | single nucleotide variant | not provided [RCV002838818] | Chr16:68685245 [GRCh38] Chr16:68719148 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1114del (p.Asp372fs) | deletion | not provided [RCV002863544] | Chr16:68682419 [GRCh38] Chr16:68716322 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.2003-17C>T | single nucleotide variant | not provided [RCV002994999] | Chr16:68695238 [GRCh38] Chr16:68729141 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.962C>T (p.Ala321Val) | single nucleotide variant | not provided [RCV002755381] | Chr16:68681062 [GRCh38] Chr16:68714965 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.46-16C>T | single nucleotide variant | not provided [RCV002839019] | Chr16:68645620 [GRCh38] Chr16:68679523 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2423A>T (p.Tyr808Phe) | single nucleotide variant | not provided [RCV003017006] | Chr16:68698333 [GRCh38] Chr16:68732236 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.116_118del (p.Glu39del) | deletion | not provided [RCV002815424] | Chr16:68645704..68645706 [GRCh38] Chr16:68679607..68679609 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1684C>T (p.Arg562Cys) | single nucleotide variant | Inborn genetic diseases [RCV002818548] | Chr16:68687625 [GRCh38] Chr16:68721528 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2052G>A (p.Lys684=) | single nucleotide variant | not provided [RCV002819142] | Chr16:68695304 [GRCh38] Chr16:68729207 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.896A>G (p.Gln299Arg) | single nucleotide variant | not provided [RCV003017219] | Chr16:68680996 [GRCh38] Chr16:68714899 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2281-19C>T | single nucleotide variant | not provided [RCV003033722] | Chr16:68698172 [GRCh38] Chr16:68732075 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1391C>T (p.Ala464Val) | single nucleotide variant | not provided [RCV003003175] | Chr16:68684791 [GRCh38] Chr16:68718694 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1331C>T (p.Ser444Phe) | single nucleotide variant | not provided [RCV003002883] | Chr16:68684731 [GRCh38] Chr16:68718634 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2099A>G (p.Tyr700Cys) | single nucleotide variant | not provided [RCV002823815] | Chr16:68695351 [GRCh38] Chr16:68729254 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1934A>G (p.Glu645Gly) | single nucleotide variant | not provided [RCV002640397] | Chr16:68691858 [GRCh38] Chr16:68725761 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2377A>C (p.Ser793Arg) | single nucleotide variant | not provided [RCV002740382] | Chr16:68698287 [GRCh38] Chr16:68732190 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.692-8C>T | single nucleotide variant | not provided [RCV003019650] | Chr16:68679791 [GRCh38] Chr16:68713694 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1355G>A (p.Gly452Asp) | single nucleotide variant | not provided [RCV002590704] | Chr16:68684755 [GRCh38] Chr16:68718658 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.843C>G (p.Val281=) | single nucleotide variant | not provided [RCV003018321] | Chr16:68679950 [GRCh38] Chr16:68713853 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2192G>T (p.Arg731Leu) | single nucleotide variant | not provided [RCV003037767] | Chr16:68695835 [GRCh38] Chr16:68729738 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.978dup (p.Met327fs) | duplication | not provided [RCV003054351] | Chr16:68681075..68681076 [GRCh38] Chr16:68714978..68714979 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.2280+8G>A | single nucleotide variant | not provided [RCV002591643] | Chr16:68695931 [GRCh38] Chr16:68729834 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1165A>G (p.Ile389Val) | single nucleotide variant | not provided [RCV002658798] | Chr16:68682470 [GRCh38] Chr16:68716373 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2315C>T (p.Pro772Leu) | single nucleotide variant | Inborn genetic diseases [RCV002640222]|not provided [RCV002637882] | Chr16:68698225 [GRCh38] Chr16:68732128 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2133+6G>T | single nucleotide variant | not provided [RCV002820532] | Chr16:68695391 [GRCh38] Chr16:68729294 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.656C>T (p.Thr219Ile) | single nucleotide variant | not provided [RCV002590975] | Chr16:68678871 [GRCh38] Chr16:68712774 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.547-7C>A | single nucleotide variant | not provided [RCV003020156] | Chr16:68678755 [GRCh38] Chr16:68712658 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2264G>T (p.Gly755Val) | single nucleotide variant | not provided [RCV003055083] | Chr16:68695907 [GRCh38] Chr16:68729810 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.807G>A (p.Met269Ile) | single nucleotide variant | not provided [RCV002998876] | Chr16:68679914 [GRCh38] Chr16:68713817 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.806T>C (p.Met269Thr) | single nucleotide variant | CDH3-related condition [RCV003418548]|not provided [RCV002570322] | Chr16:68679913 [GRCh38] Chr16:68713816 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.634A>G (p.Lys212Glu) | single nucleotide variant | not provided [RCV003036930] | Chr16:68678849 [GRCh38] Chr16:68712752 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1201A>C (p.Lys401Gln) | single nucleotide variant | Inborn genetic diseases [RCV002821550] | Chr16:68684601 [GRCh38] Chr16:68718504 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1571-13T>G | single nucleotide variant | not provided [RCV002706704] | Chr16:68687499 [GRCh38] Chr16:68721402 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.760G>A (p.Ala254Thr) | single nucleotide variant | not provided [RCV003037776] | Chr16:68679867 [GRCh38] Chr16:68713770 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.996+16C>T | single nucleotide variant | not provided [RCV002829894] | Chr16:68681112 [GRCh38] Chr16:68715015 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2134-15T>G | single nucleotide variant | not provided [RCV002791479] | Chr16:68695762 [GRCh38] Chr16:68729665 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.299G>T (p.Arg100Leu) | single nucleotide variant | not provided [RCV003024342] | Chr16:68678186 [GRCh38] Chr16:68712089 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1710G>C (p.Lys570Asn) | single nucleotide variant | not provided [RCV003023911] | Chr16:68687651 [GRCh38] Chr16:68721554 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.390+1G>C | single nucleotide variant | not provided [RCV002668004] | Chr16:68678278 [GRCh38] Chr16:68712181 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
NM_001793.6(CDH3):c.1377G>A (p.Val459=) | single nucleotide variant | not provided [RCV002893997] | Chr16:68684777 [GRCh38] Chr16:68718680 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.14G>A (p.Arg5His) | single nucleotide variant | not provided [RCV002957658] | Chr16:68645393 [GRCh38] Chr16:68679296 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2400C>T (p.Ser800=) | single nucleotide variant | not provided [RCV002666758] | Chr16:68698310 [GRCh38] Chr16:68732213 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.226C>T (p.Arg76Trp) | single nucleotide variant | not provided [RCV003042231] | Chr16:68676450 [GRCh38] Chr16:68710353 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1583C>G (p.Thr528Ser) | single nucleotide variant | not provided [RCV003005863] | Chr16:68687524 [GRCh38] Chr16:68721427 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1944T>C (p.Pro648=) | single nucleotide variant | not provided [RCV003006050] | Chr16:68691868 [GRCh38] Chr16:68725771 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.246+17A>G | single nucleotide variant | not provided [RCV002700177] | Chr16:68676487 [GRCh38] Chr16:68710390 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1041G>C (p.Gln347His) | single nucleotide variant | not provided [RCV003040121] | Chr16:68682346 [GRCh38] Chr16:68716249 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2051A>G (p.Lys684Arg) | single nucleotide variant | Inborn genetic diseases [RCV002700041]|not provided [RCV002700040] | Chr16:68695303 [GRCh38] Chr16:68729206 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1111G>C (p.Gly371Arg) | single nucleotide variant | not provided [RCV003023634] | Chr16:68682416 [GRCh38] Chr16:68716319 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.832A>G (p.Thr278Ala) | single nucleotide variant | not provided [RCV003040850] | Chr16:68679939 [GRCh38] Chr16:68713842 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.292T>C (p.Ser98Pro) | single nucleotide variant | Inborn genetic diseases [RCV003170954]|not provided [RCV003056123] | Chr16:68678179 [GRCh38] Chr16:68712082 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1011G>T (p.Val337=) | single nucleotide variant | not provided [RCV003041005] | Chr16:68682316 [GRCh38] Chr16:68716219 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.391-7_391-3del | deletion | not provided [RCV003057430] | Chr16:68678493..68678497 [GRCh38] Chr16:68712396..68712400 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2190C>T (p.Leu730=) | single nucleotide variant | not provided [RCV003059614] | Chr16:68695833 [GRCh38] Chr16:68729736 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.923C>T (p.Ser308Phe) | single nucleotide variant | not provided [RCV002663829] | Chr16:68681023 [GRCh38] Chr16:68714926 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.46-5C>T | single nucleotide variant | not provided [RCV002765548] | Chr16:68645631 [GRCh38] Chr16:68679534 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1478G>T (p.Gly493Val) | single nucleotide variant | not provided [RCV002800731] | Chr16:68685258 [GRCh38] Chr16:68719161 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.636G>C (p.Lys212Asn) | single nucleotide variant | not provided [RCV002627124] | Chr16:68678851 [GRCh38] Chr16:68712754 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2238_2239delinsCA (p.Pro746_Arg747=) | indel | not provided [RCV003056341] | Chr16:68695881..68695882 [GRCh38] Chr16:68729784..68729785 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2457G>T (p.Leu819=) | single nucleotide variant | not provided [RCV002801880] | Chr16:68698367 [GRCh38] Chr16:68732270 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1437G>A (p.Leu479=) | single nucleotide variant | not provided [RCV002643304] | Chr16:68685217 [GRCh38] Chr16:68719120 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2001G>A (p.Leu667=) | single nucleotide variant | not provided [RCV003025575] | Chr16:68691925 [GRCh38] Chr16:68725828 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2148C>T (p.Thr716=) | single nucleotide variant | not provided [RCV002701044] | Chr16:68695791 [GRCh38] Chr16:68729694 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1871A>G (p.His624Arg) | single nucleotide variant | not provided [RCV002829701] | Chr16:68691795 [GRCh38] Chr16:68725698 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.933G>A (p.Thr311=) | single nucleotide variant | not provided [RCV003082023] | Chr16:68681033 [GRCh38] Chr16:68714936 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.582A>G (p.Ser194=) | single nucleotide variant | not provided [RCV002766572] | Chr16:68678797 [GRCh38] Chr16:68712700 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.932C>T (p.Thr311Met) | single nucleotide variant | Inborn genetic diseases [RCV002626087]|not provided [RCV002604880] | Chr16:68681032 [GRCh38] Chr16:68714935 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2003-11A>C | single nucleotide variant | not provided [RCV003023680] | Chr16:68695244 [GRCh38] Chr16:68729147 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.636G>A (p.Lys212=) | single nucleotide variant | not provided [RCV003023664] | Chr16:68678851 [GRCh38] Chr16:68712754 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.458C>T (p.Pro153Leu) | single nucleotide variant | not provided [RCV003029919] | Chr16:68678568 [GRCh38] Chr16:68712471 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.757G>C (p.Val253Leu) | single nucleotide variant | Inborn genetic diseases [RCV002900963] | Chr16:68679864 [GRCh38] Chr16:68713767 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.885A>G (p.Thr295=) | single nucleotide variant | not provided [RCV003049459] | Chr16:68680985 [GRCh38] Chr16:68714888 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.125G>A (p.Gly42Asp) | single nucleotide variant | not provided [RCV003031897] | Chr16:68645715 [GRCh38] Chr16:68679618 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1796-2A>G | single nucleotide variant | not provided [RCV003064354] | Chr16:68691718 [GRCh38] Chr16:68725621 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.316_317del (p.Lys106fs) | deletion | not provided [RCV003064352] | Chr16:68678203..68678204 [GRCh38] Chr16:68712106..68712107 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.613G>A (p.Val205Met) | single nucleotide variant | not provided [RCV003064353] | Chr16:68678828 [GRCh38] Chr16:68712731 [GRCh37] Chr16:16q22.1 |
likely pathogenic|uncertain significance |
NM_001793.6(CDH3):c.1980G>A (p.Leu660=) | single nucleotide variant | not provided [RCV002631427] | Chr16:68691904 [GRCh38] Chr16:68725807 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.633C>G (p.His211Gln) | single nucleotide variant | not provided [RCV002720800] | Chr16:68678848 [GRCh38] Chr16:68712751 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1571-16G>A | single nucleotide variant | not provided [RCV003027573] | Chr16:68687496 [GRCh38] Chr16:68721399 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.78G>T (p.Pro26=) | single nucleotide variant | not provided [RCV003063279] | Chr16:68645668 [GRCh38] Chr16:68679571 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.158A>G (p.Lys53Arg) | single nucleotide variant | not provided [RCV002856174] | Chr16:68645748 [GRCh38] Chr16:68679651 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1335A>G (p.Lys445=) | single nucleotide variant | not provided [RCV002578166] | Chr16:68684735 [GRCh38] Chr16:68718638 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.234C>T (p.Gly78=) | single nucleotide variant | not provided [RCV002578903] | Chr16:68676458 [GRCh38] Chr16:68710361 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.243C>G (p.Val81=) | single nucleotide variant | not provided [RCV002600353] | Chr16:68676467 [GRCh38] Chr16:68710370 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1305T>C (p.Asn435=) | single nucleotide variant | not provided [RCV003026265] | Chr16:68684705 [GRCh38] Chr16:68718608 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2365G>T (p.Ala789Ser) | single nucleotide variant | Inborn genetic diseases [RCV002792505] | Chr16:68698275 [GRCh38] Chr16:68732178 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1182+6T>A | single nucleotide variant | not provided [RCV003046365] | Chr16:68682493 [GRCh38] Chr16:68716396 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2219C>T (p.Pro740Leu) | single nucleotide variant | not provided [RCV003009547] | Chr16:68695862 [GRCh38] Chr16:68729765 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2324A>T (p.Asp775Val) | single nucleotide variant | Inborn genetic diseases [RCV002747008] | Chr16:68698234 [GRCh38] Chr16:68732137 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.667A>T (p.Ser223Cys) | single nucleotide variant | Inborn genetic diseases [RCV002719160] | Chr16:68678882 [GRCh38] Chr16:68712785 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.809T>G (p.Phe270Cys) | single nucleotide variant | not provided [RCV003030894] | Chr16:68679916 [GRCh38] Chr16:68713819 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.33C>T (p.Leu11=) | single nucleotide variant | not provided [RCV003029443] | Chr16:68645412 [GRCh38] Chr16:68679315 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1019A>T (p.Asn340Ile) | single nucleotide variant | not provided [RCV002646139] | Chr16:68682324 [GRCh38] Chr16:68716227 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1425-4C>T | single nucleotide variant | not provided [RCV002877451] | Chr16:68685201 [GRCh38] Chr16:68719104 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.401_403delinsTT (p.Asn134fs) | indel | not provided [RCV002716528] | Chr16:68678511..68678513 [GRCh38] Chr16:68712414..68712416 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.2134-13C>T | single nucleotide variant | not provided [RCV002578706] | Chr16:68695764 [GRCh38] Chr16:68729667 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1506C>T (p.Asp502=) | single nucleotide variant | not provided [RCV002988430] | Chr16:68685286 [GRCh38] Chr16:68719189 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.546+15G>A | single nucleotide variant | not provided [RCV002810180] | Chr16:68678671 [GRCh38] Chr16:68712574 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.222del (p.Val75fs) | deletion | not provided [RCV002938307] | Chr16:68676446 [GRCh38] Chr16:68710349 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.1183-9C>G | single nucleotide variant | not provided [RCV002857151] | Chr16:68684574 [GRCh38] Chr16:68718477 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.390+11G>A | single nucleotide variant | not provided [RCV002630909] | Chr16:68678288 [GRCh38] Chr16:68712191 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1462A>G (p.Met488Val) | single nucleotide variant | not provided [RCV002988735] | Chr16:68685242 [GRCh38] Chr16:68719145 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.45+6C>A | single nucleotide variant | not provided [RCV002580502] | Chr16:68645430 [GRCh38] Chr16:68679333 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2281-19C>G | single nucleotide variant | not provided [RCV002600612] | Chr16:68698172 [GRCh38] Chr16:68732075 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.44A>G (p.Gln15Arg) | single nucleotide variant | not provided [RCV003048757] | Chr16:68645423 [GRCh38] Chr16:68679326 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2485G>A (p.Asp829Asn) | single nucleotide variant | not provided [RCV002649670] | Chr16:68698395 [GRCh38] Chr16:68732298 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2304C>A (p.Asp768Glu) | single nucleotide variant | not provided [RCV002646204] | Chr16:68698214 [GRCh38] Chr16:68732117 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.246+6A>T | single nucleotide variant | not provided [RCV003086443] | Chr16:68676476 [GRCh38] Chr16:68710379 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.927dup (p.Thr310fs) | duplication | not provided [RCV002922170] | Chr16:68681025..68681026 [GRCh38] Chr16:68714928..68714929 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_001793.6(CDH3):c.2106C>T (p.Gly702=) | single nucleotide variant | not provided [RCV002602070] | Chr16:68695358 [GRCh38] Chr16:68729261 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2002+18A>G | single nucleotide variant | not provided [RCV002634922] | Chr16:68691944 [GRCh38] Chr16:68725847 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.331G>T (p.Val111Phe) | single nucleotide variant | not provided [RCV002654229] | Chr16:68678218 [GRCh38] Chr16:68712121 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1849G>A (p.Val617Met) | single nucleotide variant | not provided [RCV002676715] | Chr16:68691773 [GRCh38] Chr16:68725676 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.108G>T (p.Val36=) | single nucleotide variant | not provided [RCV002657938] | Chr16:68645698 [GRCh38] Chr16:68679601 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1233C>T (p.Thr411=) | single nucleotide variant | not provided [RCV002658312] | Chr16:68684633 [GRCh38] Chr16:68718536 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1183G>A (p.Gly395Ser) | single nucleotide variant | not provided [RCV002653990] | Chr16:68684583 [GRCh38] Chr16:68718486 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1182+13G>A | single nucleotide variant | not provided [RCV002604898] | Chr16:68682500 [GRCh38] Chr16:68716403 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1884G>A (p.Glu628=) | single nucleotide variant | not provided [RCV002608528] | Chr16:68691808 [GRCh38] Chr16:68725711 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1302G>A (p.Val434=) | single nucleotide variant | not provided [RCV002653651] | Chr16:68684702 [GRCh38] Chr16:68718605 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.652G>C (p.Asp218His) | single nucleotide variant | not provided [RCV002814763] | Chr16:68678867 [GRCh38] Chr16:68712770 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.954C>T (p.Ile318=) | single nucleotide variant | not provided [RCV002944021] | Chr16:68681054 [GRCh38] Chr16:68714957 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.142G>C (p.Gly48Arg) | single nucleotide variant | Inborn genetic diseases [RCV003049751]|not provided [RCV003049750] | Chr16:68645732 [GRCh38] Chr16:68679635 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1978C>T (p.Leu660=) | single nucleotide variant | not provided [RCV002814702] | Chr16:68691902 [GRCh38] Chr16:68725805 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.246+9C>T | single nucleotide variant | not provided [RCV003051804] | Chr16:68676479 [GRCh38] Chr16:68710382 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.999C>T (p.Tyr333=) | single nucleotide variant | not provided [RCV002589535] | Chr16:68682304 [GRCh38] Chr16:68716207 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.971A>G (p.Asn324Ser) | single nucleotide variant | not provided [RCV002583143] | Chr16:68681071 [GRCh38] Chr16:68714974 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1796-11G>A | single nucleotide variant | not provided [RCV002635720] | Chr16:68691709 [GRCh38] Chr16:68725612 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2220G>A (p.Pro740=) | single nucleotide variant | not provided [RCV002590200] | Chr16:68695863 [GRCh38] Chr16:68729766 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.504G>T (p.Leu168Phe) | single nucleotide variant | Inborn genetic diseases [RCV003186477] | Chr16:68678614 [GRCh38] Chr16:68712517 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.2083C>G (p.Arg695Gly) | single nucleotide variant | Inborn genetic diseases [RCV003288024] | Chr16:68695335 [GRCh38] Chr16:68729238 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1473C>G (p.Asp491Glu) | single nucleotide variant | not provided [RCV003712696] | Chr16:68685253 [GRCh38] Chr16:68719156 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1658T>A (p.Ile553Asn) | single nucleotide variant | not provided [RCV003872835] | Chr16:68687599 [GRCh38] Chr16:68721502 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.978C>T (p.Pro326=) | single nucleotide variant | not provided [RCV003712674] | Chr16:68681078 [GRCh38] Chr16:68714981 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.46-9C>A | single nucleotide variant | not provided [RCV003571698] | Chr16:68645627 [GRCh38] Chr16:68679530 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16q22.1(chr16:68565700-68700117)x1 | copy number loss | not provided [RCV003483291] | Chr16:68565700..68700117 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3 | copy number gain | not provided [RCV003485117] | Chr16:67498380..68754276 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16q22.1(chr16:68292285-69424236)x3 | copy number gain | not provided [RCV003485118] | Chr16:68292285..69424236 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.296A>G (p.Lys99Arg) | single nucleotide variant | not provided [RCV003411381] | Chr16:68678183 [GRCh38] Chr16:68712086 [GRCh37] Chr16:16q22.1 |
likely benign |
NC_000016.10:g.68722497C>G | single nucleotide variant | not provided [RCV003419384] | Chr16:68722497 [GRCh38] Chr16:68756400 [GRCh37] Chr16:16q22.1 |
benign |
NM_001793.6(CDH3):c.2322C>T (p.Tyr774=) | single nucleotide variant | not provided [RCV003715859] | Chr16:68698232 [GRCh38] Chr16:68732135 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.45+8A>C | single nucleotide variant | not provided [RCV003831448] | Chr16:68645432 [GRCh38] Chr16:68679335 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1110C>T (p.Gly370=) | single nucleotide variant | not provided [RCV003831524] | Chr16:68682415 [GRCh38] Chr16:68716318 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1557G>A (p.Leu519=) | single nucleotide variant | not provided [RCV003576992] | Chr16:68685337 [GRCh38] Chr16:68719240 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.247-13T>C | single nucleotide variant | not provided [RCV003713626] | Chr16:68678121 [GRCh38] Chr16:68712024 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.546+19C>G | single nucleotide variant | not provided [RCV003829405] | Chr16:68678675 [GRCh38] Chr16:68712578 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1573A>C (p.Ser525Arg) | single nucleotide variant | not provided [RCV003716130] | Chr16:68687514 [GRCh38] Chr16:68721417 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1666T>G (p.Cys556Gly) | single nucleotide variant | not provided [RCV003689604] | Chr16:68687607 [GRCh38] Chr16:68721510 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_001793.6(CDH3):c.1254G>C (p.Leu418=) | single nucleotide variant | not provided [RCV003827781] | Chr16:68684654 [GRCh38] Chr16:68718557 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1571-8A>G | single nucleotide variant | not provided [RCV003695091] | Chr16:68687504 [GRCh38] Chr16:68721407 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.247-2A>C | single nucleotide variant | not provided [RCV003690429] | Chr16:68678132 [GRCh38] Chr16:68712035 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
NM_001793.6(CDH3):c.222T>C (p.Thr74=) | single nucleotide variant | not provided [RCV003689384] | Chr16:68676446 [GRCh38] Chr16:68710349 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1389T>G (p.Thr463=) | single nucleotide variant | not provided [RCV003663953] | Chr16:68684789 [GRCh38] Chr16:68718692 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1795+18G>A | single nucleotide variant | not provided [RCV003580892] | Chr16:68687754 [GRCh38] Chr16:68721657 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.45+9C>T | single nucleotide variant | not provided [RCV003549864] | Chr16:68645433 [GRCh38] Chr16:68679336 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.1407G>A (p.Lys469=) | single nucleotide variant | not provided [RCV003698686] | Chr16:68684807 [GRCh38] Chr16:68718710 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_001793.6(CDH3):c.2112G>A (p.Glu704=) | single nucleotide variant | not provided [RCV003811112] | Chr16:68695364 [GRCh38] Chr16:68729267 [GRCh37] Chr16:16q22.1 |
likely benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
SHGC-146481 |
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D16S3206 |
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SHGC-61141 |
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CDH3_526 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | |
High | 1 | ||||||||||||||||
Medium | 166 | 7 | 93 | 118 | 127 | 14 | 1359 | 14 | 61 | 85 | 830 | 242 | 115 | 74 | 589 | 2 | |
Low | 636 | 227 | 945 | 85 | 401 | 31 | 972 | 185 | 3265 | 212 | 596 | 1260 | 56 | 443 | 784 | 2 | |
Below cutoff | 1628 | 2562 | 582 | 316 | 1033 | 316 | 1946 | 1868 | 384 | 117 | 30 | 103 | 2 | 1 | 683 | 1340 | 1 |
RefSeq Transcripts | NG_009096 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001317195 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001317196 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001793 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011522800 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047433450 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054379317 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054379318 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC099314 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC126773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI149268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK225396 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK296968 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK312554 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW339148 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC014462 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC041846 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ945506 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU543746 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA489015 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA489338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA489357 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471092 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN365479 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CS174724 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JA885907 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JA886341 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JA886775 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JA887209 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JA910254 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JB234906 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JB243606 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JB254221 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JB257194 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JB264115 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JB276735 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JB311546 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JB313836 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JB318830 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JB359895 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JB819630 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JB820064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X63629 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X95824 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000264012 ⟹ ENSP00000264012 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000429102 ⟹ ENSP00000398485 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000542274 ⟹ ENSP00000464021 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000565453 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000566808 ⟹ ENSP00000462111 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000567674 ⟹ ENSP00000463267 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000568292 ⟹ ENSP00000463364 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000569036 ⟹ ENSP00000464058 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000569080 ⟹ ENSP00000463415 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000569117 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001317195 ⟹ NP_001304124 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001317196 ⟹ NP_001304125 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001793 ⟹ NP_001784 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011522800 ⟹ XP_011521102 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047433450 ⟹ XP_047289406 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054379317 ⟹ XP_054235292 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054379318 ⟹ XP_054235293 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001304124 | (Get FASTA) | NCBI Sequence Viewer |
NP_001304125 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001784 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011521102 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047289406 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054235292 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054235293 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH14462 | (Get FASTA) | NCBI Sequence Viewer |
AAH41846 | (Get FASTA) | NCBI Sequence Viewer | |
BAG35451 | (Get FASTA) | NCBI Sequence Viewer | |
BAG59512 | (Get FASTA) | NCBI Sequence Viewer | |
CAA45177 | (Get FASTA) | NCBI Sequence Viewer | |
CAA65093 | (Get FASTA) | NCBI Sequence Viewer | |
CAJ34555 | (Get FASTA) | NCBI Sequence Viewer | |
CCQ77686 | (Get FASTA) | NCBI Sequence Viewer | |
CCQ77695 | (Get FASTA) | NCBI Sequence Viewer | |
CCQ77704 | (Get FASTA) | NCBI Sequence Viewer | |
CCQ77713 | (Get FASTA) | NCBI Sequence Viewer | |
CCV20012 | (Get FASTA) | NCBI Sequence Viewer | |
CDH48192 | (Get FASTA) | NCBI Sequence Viewer | |
CDH61614 | (Get FASTA) | NCBI Sequence Viewer | |
CDH61668 | (Get FASTA) | NCBI Sequence Viewer | |
CDH61687 | (Get FASTA) | NCBI Sequence Viewer | |
CDH88985 | (Get FASTA) | NCBI Sequence Viewer | |
CDH92523 | (Get FASTA) | NCBI Sequence Viewer | |
CDH92537 | (Get FASTA) | NCBI Sequence Viewer | |
CDH92548 | (Get FASTA) | NCBI Sequence Viewer | |
CDH92795 | (Get FASTA) | NCBI Sequence Viewer | |
CDH92892 | (Get FASTA) | NCBI Sequence Viewer | |
CDI44667 | (Get FASTA) | NCBI Sequence Viewer | |
CDI44676 | (Get FASTA) | NCBI Sequence Viewer | |
EAW83237 | (Get FASTA) | NCBI Sequence Viewer | |
EAW83238 | (Get FASTA) | NCBI Sequence Viewer | |
EAW83239 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000264012 | ||
ENSP00000264012.4 | |||
ENSP00000398485 | |||
ENSP00000398485.2 | |||
ENSP00000462111.1 | |||
ENSP00000463267.1 | |||
ENSP00000463364.1 | |||
ENSP00000463415.1 | |||
ENSP00000464021.1 | |||
ENSP00000464058.1 | |||
GenBank Protein | P22223 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001784 ⟸ NM_001793 |
- Peptide Label: | isoform 1 preproprotein |
- UniProtKB: | B2R6F4 (UniProtKB/Swiss-Prot), Q05DI6 (UniProtKB/Swiss-Prot), P22223 (UniProtKB/Swiss-Prot), B4DLF0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011521102 ⟸ XM_011522800 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DLF0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001304124 ⟸ NM_001317195 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | B4DLF0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001304125 ⟸ NM_001317196 |
- Peptide Label: | isoform 3 |
- UniProtKB: | B4DLF0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000464021 ⟸ ENST00000542274 |
RefSeq Acc Id: | ENSP00000398485 ⟸ ENST00000429102 |
RefSeq Acc Id: | ENSP00000462111 ⟸ ENST00000566808 |
RefSeq Acc Id: | ENSP00000264012 ⟸ ENST00000264012 |
RefSeq Acc Id: | ENSP00000463267 ⟸ ENST00000567674 |
RefSeq Acc Id: | ENSP00000463364 ⟸ ENST00000568292 |
RefSeq Acc Id: | ENSP00000463415 ⟸ ENST00000569080 |
RefSeq Acc Id: | ENSP00000464058 ⟸ ENST00000569036 |
RefSeq Acc Id: | XP_047289406 ⟸ XM_047433450 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DLF0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054235293 ⟸ XM_054379318 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DLF0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054235292 ⟸ XM_054379317 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DLF0 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P22223-F1-model_v2 | AlphaFold | P22223 | 1-829 | view protein structure |
RGD ID: | 7232655 | ||||||||
Promoter ID: | EPDNEW_H22072 | ||||||||
Type: | initiation region | ||||||||
Name: | CDH3_2 | ||||||||
Description: | cadherin 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22073 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7232653 | ||||||||
Promoter ID: | EPDNEW_H22073 | ||||||||
Type: | initiation region | ||||||||
Name: | CDH3_1 | ||||||||
Description: | cadherin 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22072 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:1762 | AgrOrtholog |
COSMIC | CDH3 | COSMIC |
Ensembl Genes | ENSG00000062038 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000264012 | ENTREZGENE |
ENST00000264012.9 | UniProtKB/Swiss-Prot | |
ENST00000429102 | ENTREZGENE | |
ENST00000429102.6 | UniProtKB/Swiss-Prot | |
ENST00000542274.5 | UniProtKB/TrEMBL | |
ENST00000566808.2 | UniProtKB/TrEMBL | |
ENST00000567674.1 | UniProtKB/TrEMBL | |
ENST00000568292.1 | UniProtKB/TrEMBL | |
ENST00000569036.2 | UniProtKB/TrEMBL | |
ENST00000569080.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 4.10.900.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Cadherins | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000062038 | GTEx |
HGNC ID | HGNC:1762 | ENTREZGENE |
Human Proteome Map | CDH3 | Human Proteome Map |
InterPro | Cadherin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Cadherin-like_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cadherin-like_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cadherin_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cadherin_cytoplasmic-dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cadherin_pro_dom | UniProtKB/Swiss-Prot | |
Catenin_binding_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:1001 | UniProtKB/Swiss-Prot |
NCBI Gene | 1001 | ENTREZGENE |
OMIM | 114021 | OMIM |
PANTHER | CADHERIN-3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR24027 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Cadherin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Cadherin_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA26299 | PharmGKB |
PRINTS | CADHERIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | CADHERIN_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
CADHERIN_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | Cadherin_pro | UniProtKB/Swiss-Prot |
SM00112 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF49313 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B2R6F4 | ENTREZGENE |
B4DLF0 | ENTREZGENE, UniProtKB/TrEMBL | |
CADH3_HUMAN | UniProtKB/Swiss-Prot | |
J3KRQ1_HUMAN | UniProtKB/TrEMBL | |
J3QKW6_HUMAN | UniProtKB/TrEMBL | |
J3QL41_HUMAN | UniProtKB/TrEMBL | |
J3QL75_HUMAN | UniProtKB/TrEMBL | |
J3QR34_HUMAN | UniProtKB/TrEMBL | |
J3QR60_HUMAN | UniProtKB/TrEMBL | |
P22223 | ENTREZGENE | |
Q05DI6 | ENTREZGENE | |
UniProt Secondary | B2R6F4 | UniProtKB/Swiss-Prot |
Q05DI6 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-01-19 | CDH3 | cadherin 3 | CDH3 | cadherin 3, type 1, P-cadherin (placental) | Symbol and/or name change | 5135510 | APPROVED |