Related gene-specific medical variations for Gene (Select 1001) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 2442156	NM_001793.6(CDH3):c.958G>A (p.Asp320Asn)	CDH3 (D265N +1 more)	Single nucleotide variant (missense variant)	Congenital hypotrichosis with juvenile macular dystrophy +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 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 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 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 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 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 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 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 2012247	NM_001793.6(CDH3):c.46-16C>T	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1974285	NM_001793.6(CDH3):c.46-5C>T	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	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 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 1925517	NM_001793.6(CDH3):c.45+12C>T	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1667361	NM_001793.6(CDH3):c.46-18C>T	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 1648188	NM_001793.6(CDH3):c.160+11C>T	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 1457451	NM_001793.6(CDH3):c.118dup (p.Ala40fs)	CDH3, CDH3-AS1 (A40fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
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 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 1322049	NM_001793.6(CDH3):c.160+1G>A	CDH3, CDH3-AS1	Single nucleotide variant (splice donor variant +1 more)	Congenital hypotrichosis with juvenile macular dystrophy +1 more	GPathogenic
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 1192667	NM_001793.6(CDH3):c.160+117G>A	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 1123169	NM_001793.6(CDH3):c.45+12C>G	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 930688	NM_001793.6(CDH3):c.2087del (p.Asp696fs)	CDH3 (D641fs +1 more)	Deletion (frameshift variant)	EEM syndrome	GLikely pathogenic
Select item 885661	NM_001793.6(CDH3):c.109A>T (p.Thr37Ser)	CDH3-AS1, CDH3 (T37S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 866071	NM_001793.6(CDH3):c.307C>T (p.Arg103Ter)	CDH3 (R103* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
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 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 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 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 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 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 320222	NM_001793.6(CDH3):c.-11T>C	CDH3, CDH3-AS1	Single nucleotide variant (5 prime UTR 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 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

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Links from Gene

Items: 62