"GeneDx"[submitter] AND "CDH3"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59994	GRCh38/hg38 16q22.1(chr16:68611956-68888428)x3	CDH1, CDH3 +39 more	Copy number gain	See cases	GUncertain significance
Select item 1197825	NM_001793.6(CDH3):c.45+79C>A	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2570947	NM_001793.6(CDH3):c.52T>C (p.Trp18Arg)	CDH3, CDH3-AS1 (W18R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1192667	NM_001793.6(CDH3):c.160+117G>A	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	EEM syndrome +2 more	GBenign
Select item 1263426	NM_001793.6(CDH3):c.161-123T>C	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2430734	NM_001793.6(CDH3):c.161-23C>T	CDH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254767	NM_001793.6(CDH3):c.246+50A>G	CDH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187850	NM_001793.6(CDH3):c.247-194dup	CDH3	Duplication (intron variant)	not provided	GLikely benign
Select item 1276606	NM_001793.6(CDH3):c.247-194del	CDH3	Deletion (intron variant)	not provided	GBenign
Select item 677217	NM_001793.6(CDH3):c.247-38A>G	CDH3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 677162	NM_001793.6(CDH3):c.390+37T>C	CDH3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 373393	NM_001793.6(CDH3):c.410G>A (p.Arg137Lys)	CDH3 (R137K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1490716	NM_001793.6(CDH3):c.448G>A (p.Ala150Thr)	CDH3 (A95T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1197403	NM_001793.6(CDH3):c.546+35C>G	CDH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 320227	NM_001793.6(CDH3):c.612C>A (p.Ile204=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1222403	NM_001793.6(CDH3):c.692-248C>T	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277950	NM_001793.6(CDH3):c.692-247G>A	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291656	NM_001793.6(CDH3):c.692-129G>C	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 320229	NM_001793.6(CDH3):c.720G>A (p.Thr240=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 285028	NM_001793.6(CDH3):c.805A>C (p.Met269Leu)	CDH3 (M269L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 320230	NM_001793.6(CDH3):c.813C>A (p.Thr271=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 884780	NM_001793.6(CDH3):c.996+13C>T	CDH3	Single nucleotide variant (intron variant)	EEM syndrome +1 more	GBenign/Likely benign
Select item 1287759	NM_001793.6(CDH3):c.997-139G>A	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194252	NM_001793.6(CDH3):c.997-120G>A	CDH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239556	NM_001793.6(CDH3):c.997-26T>C	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 499462	NM_001793.6(CDH3):c.1087C>T (p.Arg363Cys)	CDH3 (R363C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 777040	NM_001793.6(CDH3):c.1117G>A (p.Asp373Asn)	CDH3 (D318N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1210828	NM_001793.6(CDH3):c.1182+62G>A	CDH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218248	NM_001793.6(CDH3):c.1183-158A>G	CDH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224118	NM_001793.6(CDH3):c.1183-119T>C	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309788	NM_001793.6(CDH3):c.1238A>C (p.Glu413Ala)	CDH3 (E358A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 320238	NM_001793.6(CDH3):c.1257G>A (p.Lys419=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +1 more	GBenign
Select item 100570	NM_001793.6(CDH3):c.1285G>A (p.Val429Ile)	CDH3 (V429I +1 more)	Single nucleotide variant (missense variant)	EEM syndrome +1 more	GBenign/Likely benign
Select item 1229513	NM_001793.6(CDH3):c.1424+23A>G	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 320240	NM_001793.6(CDH3):c.1430G>A (p.Arg477His)	CDH3 (R477H +1 more)	Single nucleotide variant (missense variant)	EEM syndrome +1 more	GBenign
Select item 193847	NM_001793.6(CDH3):c.1436T>C (p.Leu479Pro)	CDH3 (L479P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 193848	NM_001793.6(CDH3):c.1443C>T (p.Asp481=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1411436	NM_001793.6(CDH3):c.1537A>T (p.Ile513Phe)	CDH3 (I458F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196312	NM_001793.6(CDH3):c.1570+79C>T	CDH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260283	NM_001793.6(CDH3):c.1570+177C>T	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257099	NM_001793.6(CDH3):c.1570+297T>G	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253024	NM_001793.6(CDH3):c.1571-75G>A	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 320241	NM_001793.6(CDH3):c.1571-7C>G	CDH3	Single nucleotide variant (intron variant)	EEM syndrome +1 more	GUncertain significance
Select item 1308060	NM_001793.6(CDH3):c.1583C>T (p.Thr528Ile)	CDH3 (T473I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 320243	NM_001793.6(CDH3):c.1626T>C (p.Asn542=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +2 more	GBenign
Select item 3011772	NM_001793.6(CDH3):c.1658T>A (p.Ile553Asn)	CDH3 (I553N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 320245	NM_001793.6(CDH3):c.1689G>C (p.Gln563His)	CDH3 (Q563H +1 more)	Single nucleotide variant (missense variant)	EEM syndrome +1 more	GBenign
Select item 1201914	NM_001793.6(CDH3):c.1796-187C>T	CDH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280134	NM_001793.6(CDH3):c.1796-137A>G	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194279	NM_001793.6(CDH3):c.1796-44G>A	CDH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 320250	NM_001793.6(CDH3):c.1956G>A (p.Lys652=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +2 more	GBenign
Select item 1190778	NM_001793.6(CDH3):c.2002+180G>A	CDH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205584	NM_001793.6(CDH3):c.2003-257G>C	CDH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236700	NM_001793.6(CDH3):c.2003-220C>T	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236991	NM_001793.6(CDH3):c.2003-182C>A	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257226	NM_001793.6(CDH3):c.2003-46A>G	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 707957	NM_001793.6(CDH3):c.2058C>T (p.Pro686=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +1 more	GBenign/Likely benign
Select item 1019520	NM_001793.6(CDH3):c.2083C>T (p.Arg695Cys)	CDH3 (R640C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313760	NM_001793.6(CDH3):c.2084G>A (p.Arg695His)	CDH3 (R640H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223291	NM_001793.6(CDH3):c.2134-155C>T	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220716	NM_001793.6(CDH3):c.2134-154G>A	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1039061	NM_001793.6(CDH3):c.2174G>A (p.Arg725Lys)	CDH3 (R725K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423423	NM_001793.6(CDH3):c.2233C>T (p.Arg745Cys)	CDH3 (R745C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693330	NM_001793.6(CDH3):c.2236C>T (p.Pro746Ser)	CDH3 (P691S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 93783	NM_001793.6(CDH3):c.2239C>A (p.Arg747=)	CDH3	Single nucleotide variant (synonymous variant)	Congenital hypotrichosis with juvenile macular dystrophy +3 more	GBenign
Select item 320252	NM_001793.6(CDH3):c.2280+7C>T	CDH3	Single nucleotide variant (intron variant)	EEM syndrome +1 more	GBenign/Likely benign
Select item 1221631	NM_001793.6(CDH3):c.2281-288T>C	CDH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254142	NM_001793.6(CDH3):c.2281-274G>A	CDH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192714	NM_001793.6(CDH3):c.2281-45A>C	CDH3 (R778S)	Single nucleotide variant (missense variant +1 more)	Congenital hypotrichosis with juvenile macular dystrophy +2 more	GBenign
Select item 1254857	NM_001793.6(CDH3):c.2281-44G>T	CDH3 (G779C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1480340	NM_001793.6(CDH3):c.2374del (p.Ser791_Leu792insTer)	CDH3	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 942291	NM_001793.6(CDH3):c.2395G>A (p.Ala799Thr)	CDH3 (A744T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 320258	NM_001793.6(CDH3):c.*154G>T	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome +1 more	GBenign
Select item 884929	NM_001793.6(CDH3):c.*195G>T	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome +1 more	GBenign/Likely benign
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic

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Items: 76