CDH3[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 814

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 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 320202	NM_001793.4(CDH3):c.-1085A>G	CDH3-AS1, CDH3	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320203	NM_001793.4(CDH3):c.-983A>G	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320204	NM_001793.4(CDH3):c.-679T>C	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320205	NM_001793.4(CDH3):c.-646_-645insA	CDH3-AS1, CDH3	Insertion (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320206	NM_001793.4(CDH3):c.-629dup	CDH3, CDH3-AS1	Duplication (non-coding transcript variant)	EEM syndrome	GBenign
Select item 320207	NM_001793.4(CDH3):c.-635_-634insG	CDH3, CDH3-AS1	Insertion (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320209	NM_001793.4(CDH3):c.-634_-633insG	CDH3-AS1, CDH3	Insertion (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320208	NM_001793.4(CDH3):c.-633_-627AAAAAGA[1]	CDH3, CDH3-AS1	Microsatellite (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320210	NM_001793.4(CDH3):c.-628G>A	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320211	NM_001793.4(CDH3):c.-621G>A	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320212	NM_001793.5(CDH3):c.-537A>G	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GBenign
Select item 320213	NM_001793.5(CDH3):c.-399G>C	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GLikely benign
Select item 320214	NM_001793.5(CDH3):c.-302C>T	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320215	NM_001793.5(CDH3):c.-282G>T	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320216	NM_001793.5(CDH3):c.-267C>T	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320217	NM_001793.5(CDH3):c.-193G>T	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320218	NM_001793.5(CDH3):c.-141C>G	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320219	NM_001793.5(CDH3):c.-140G>T	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320220	NM_001793.5(CDH3):c.-72T>C	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320221	NM_001793.6(CDH3):c.-36C>T	CDH3, CDH3-AS1	Single nucleotide variant (5 prime UTR variant)	EEM syndrome	GUncertain significance
Select item 3049458	NM_001793.6(CDH3):c.-14CT[3]	CDH3, CDH3-AS1	Microsatellite (5 prime UTR variant +1 more)	CDH3-related disorder	GLikely benign
Select item 320222	NM_001793.6(CDH3):c.-11T>C	CDH3, CDH3-AS1	Single nucleotide variant (5 prime UTR variant)	EEM syndrome	GUncertain significance
Select item 636162	NM_001793.6(CDH3):c.3G>A (p.Met1Ile)	CDH3, CDH3-AS1 (M1I)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 3141266	NM_001793.6(CDH3):c.4G>C (p.Gly2Arg)	CDH3, CDH3-AS1 (G2R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1531691	NM_001793.6(CDH3):c.6G>A (p.Gly2=)	CDH3, CDH3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1349498	NM_001793.6(CDH3):c.13C>T (p.Arg5Cys)	CDH3, CDH3-AS1 (R5C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2060298	NM_001793.6(CDH3):c.14G>A (p.Arg5His)	CDH3, CDH3-AS1 (R5H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1445419	NM_001793.6(CDH3):c.33CCT[1] (p.Leu14del)	CDH3, CDH3-AS1 (L14del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2108338	NM_001793.6(CDH3):c.33C>T (p.Leu11=)	CDH3, CDH3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 885658	NM_001793.6(CDH3):c.34C>T (p.Leu12Phe)	CDH3, CDH3-AS1 (L12F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2135709	NM_001793.6(CDH3):c.44A>G (p.Gln15Arg)	CDH3-AS1, CDH3 (Q15R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1904931	NM_001793.6(CDH3):c.45+6C>A	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 885659	NM_001793.6(CDH3):c.45+6C>T	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	EEM syndrome +1 more	GUncertain significance
Select item 2977330	NM_001793.6(CDH3):c.45+8A>C	CDH3-AS1, CDH3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2701788	NM_001793.6(CDH3):c.45+9C>T	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1925517	NM_001793.6(CDH3):c.45+12C>T	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1123169	NM_001793.6(CDH3):c.45+12C>G	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1661303	NM_001793.6(CDH3):c.45+13C>G	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789620	NM_001793.6(CDH3):c.45+19G>A	CDH3-AS1, CDH3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 1667361	NM_001793.6(CDH3):c.46-18C>T	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2012247	NM_001793.6(CDH3):c.46-16C>T	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 885660	NM_001793.6(CDH3):c.46-11C>T	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	EEM syndrome	GUncertain significance
Select item 2756260	NM_001793.6(CDH3):c.46-9C>A	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1974285	NM_001793.6(CDH3):c.46-5C>T	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1488097	NM_001793.6(CDH3):c.46-2A>T	CDH3, CDH3-AS1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 1066245	NM_001793.6(CDH3):c.46-2A>G	CDH3, CDH3-AS1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 1473340	NM_001793.6(CDH3):c.46-1G>C	CDH3, CDH3-AS1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
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 782313	NM_001793.6(CDH3):c.55C>T (p.Leu19=)	CDH3, CDH3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1515948	NM_001793.6(CDH3):c.59A>G (p.Gln20Arg)	CDH3, CDH3-AS1 (Q20R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3141267	NM_001793.6(CDH3):c.65C>T (p.Ala22Val)	CDH3, CDH3-AS1 (A22V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1013772	NM_001793.6(CDH3):c.65C>A (p.Ala22Glu)	CDH3, CDH3-AS1 (A22E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2238646	NM_001793.6(CDH3):c.77C>G (p.Pro26Arg)	CDH3, CDH3-AS1 (P26R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1013900	NM_001793.6(CDH3):c.77C>T (p.Pro26Leu)	CDH3, CDH3-AS1 (P26L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2148210	NM_001793.6(CDH3):c.78G>T (p.Pro26=)	CDH3, CDH3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1973140	NM_001793.6(CDH3):c.78G>C (p.Pro26=)	CDH3, CDH3-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2795787	NM_001793.6(CDH3):c.84G>A (p.Arg28=)	CDH3, CDH3-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 320223	NM_001793.6(CDH3):c.100G>A (p.Ala34Thr)	CDH3, CDH3-AS1 (A34T)	Single nucleotide variant (missense variant +1 more)	EEM syndrome +1 more	GUncertain significance
Select item 499900	NM_001793.6(CDH3):c.101C>T (p.Ala34Val)	CDH3, CDH3-AS1 (A34V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1555179	NM_001793.6(CDH3):c.102T>C (p.Ala34=)	CDH3, CDH3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2115602	NM_001793.6(CDH3):c.103G>A (p.Glu35Lys)	CDH3-AS1, CDH3 (E35K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1936134	NM_001793.6(CDH3):c.108G>T (p.Val36=)	CDH3, CDH3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1546382	NM_001793.6(CDH3):c.108G>A (p.Val36=)	CDH3, CDH3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 885661	NM_001793.6(CDH3):c.109A>T (p.Thr37Ser)	CDH3, CDH3-AS1 (T37S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1152716	NM_001793.6(CDH3):c.111C>T (p.Thr37=)	CDH3, CDH3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2001421	NM_001793.6(CDH3):c.116_118del (p.Glu39del)	CDH3, CDH3-AS1 (E39del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1457451	NM_001793.6(CDH3):c.118dup (p.Ala40fs)	CDH3, CDH3-AS1 (A40fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 290999	NM_001793.6(CDH3):c.119C>A (p.Ala40Glu)	CDH3, CDH3-AS1 (A40E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2109610	NM_001793.6(CDH3):c.125G>A (p.Gly42Asp)	CDH3, CDH3-AS1 (G42D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1061557	NM_001793.6(CDH3):c.139C>A (p.Pro47Thr)	CDH3, CDH3-AS1 (P47T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 731369	NM_001793.6(CDH3):c.141C>G (p.Pro47=)	CDH3, CDH3-AS1	Single nucleotide variant (synonymous variant +1 more)	EEM syndrome +2 more	GBenign
Select item 2125782	NM_001793.6(CDH3):c.142G>C (p.Gly48Arg)	CDH3, CDH3-AS1 (G48R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 858975	NM_001793.6(CDH3):c.146A>G (p.Gln49Arg)	CDH3, CDH3-AS1 (Q49R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2012182	NM_001793.6(CDH3):c.158A>G (p.Lys53Arg)	CDH3, CDH3-AS1 (K53R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1322049	NM_001793.6(CDH3):c.160+1G>A	CDH3, CDH3-AS1	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic
Select item 1648188	NM_001793.6(CDH3):c.160+11C>T	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192667	NM_001793.6(CDH3):c.160+117G>A	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	not provided +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 1627200	NM_001793.6(CDH3):c.161-8C>A	CDH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1087316	NM_001793.6(CDH3):c.162A>G (p.Val54=)	CDH3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 320224	NM_001793.6(CDH3):c.166A>G (p.Met56Val)	CDH3 (M56V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1000326	NM_001793.6(CDH3):c.173G>A (p.Cys58Tyr)	CDH3 (C3Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967583	NM_001793.6(CDH3):c.178G>C (p.Gly60Arg)	CDH3 (G60R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 846107	NM_001793.6(CDH3):c.190G>T (p.Ala64Ser)	CDH3 (A64S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1043439	NM_001793.6(CDH3):c.191C>T (p.Ala64Val)	CDH3 (A64V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387105	NM_001793.6(CDH3):c.214G>A (p.Asp72Asn)	CDH3 (D72N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832197	NM_001793.6(CDH3):c.222T>C (p.Thr74=)	CDH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055956	NM_001793.6(CDH3):c.222del (p.Val75fs)	CDH3 (V75fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2110178	NM_001793.6(CDH3):c.226C>T (p.Arg76Trp)	CDH3 (R76W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 9