ClinVar for MedGen (Select 444067) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 151

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061953	NM_002855.5(NECTIN1):c.226C>T (p.Gln76Ter)	NECTIN1 (Q76*)	Single nucleotide variant (nonsense)	Cleft lip/palate-ectodermal dysplasia syndrome	GLikely pathogenic
Select item 1697231	NM_002855.5(NECTIN1):c.400C>T (p.Arg134Ter)	NECTIN1	Single nucleotide variant (nonsense)	Cleft lip/palate-ectodermal dysplasia syndrome	GPathogenic
Select item 1029485	NM_002855.5(NECTIN1):c.328C>T (p.Arg110Cys)	NECTIN1 (R110C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 984386	NM_002855.5(NECTIN1):c.472C>T (p.Arg158Ter)	NECTIN1 (R158*)	Single nucleotide variant (nonsense)	Cleft lip/palate-ectodermal dysplasia syndrome	GLikely pathogenic
Select item 880240	NM_002855.5(NECTIN1):c.502C>T (p.Leu168=)	NECTIN1	Single nucleotide variant (synonymous variant)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880239	NM_002855.5(NECTIN1):c.629G>A (p.Arg210His)	NECTIN1 (R210H)	Single nucleotide variant (missense variant)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 880238	NM_002855.5(NECTIN1):c.635G>A (p.Arg212His)	NECTIN1 (R212H)	Single nucleotide variant (missense variant)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 880237	NM_002855.5(NECTIN1):c.682G>A (p.Val228Ile)	NECTIN1 (V228I)	Single nucleotide variant (missense variant)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880196	NM_002855.5(NECTIN1):c.*296T>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880195	NM_002855.5(NECTIN1):c.*315T>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880194	NM_002855.5(NECTIN1):c.*348C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880193	NM_002855.5(NECTIN1):c.*352C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880192	NM_002855.5(NECTIN1):c.*438C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880191	NM_002855.5(NECTIN1):c.*481C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880190	NM_002855.5(NECTIN1):c.*521G>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880189	NM_002855.5(NECTIN1):c.*532T>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880145	NM_002855.5(NECTIN1):c.*1330G>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880144	NM_002855.5(NECTIN1):c.*1337T>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880143	NM_002855.5(NECTIN1):c.*1368G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880142	NM_002855.5(NECTIN1):c.*1382T>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880141	NM_002855.5(NECTIN1):c.*1391C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GLikely benign
Select item 880140	NM_002855.5(NECTIN1):c.*1422G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880139	NM_002855.5(NECTIN1):c.*1554G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880138	NM_002855.5(NECTIN1):c.*1555C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880103	NM_002855.5(NECTIN1):c.*2882G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880102	NM_002855.5(NECTIN1):c.*2884G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GLikely benign
Select item 880101	NM_002855.5(NECTIN1):c.*2902A>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880100	NM_002855.5(NECTIN1):c.*2969A>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880099	NM_002855.5(NECTIN1):c.*3013G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GLikely benign
Select item 880098	NM_002855.5(NECTIN1):c.*3032T>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880097	NM_002855.5(NECTIN1):c.*3087C>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880096	NM_002855.5(NECTIN1):c.*3136G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 879072	NM_002855.5(NECTIN1):c.-151A>C	NECTIN1	Single nucleotide variant (5 prime UTR variant)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 879027	NM_002855.5(NECTIN1):c.900C>G (p.Leu300=)	NECTIN1	Single nucleotide variant (synonymous variant)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 879026	NM_002855.5(NECTIN1):c.1019C>A (p.Pro340Gln)	NECTIN1 (P340Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 879025	NM_002855.5(NECTIN1):c.1078G>A (p.Val360Met)	NECTIN1 (V360M)	Single nucleotide variant (missense variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 879024	NM_002855.5(NECTIN1):c.1182C>T (p.His394=)	NECTIN1	Single nucleotide variant (synonymous variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 879023	NM_002855.5(NECTIN1):c.1194C>T (p.Asn398=)	NECTIN1	Single nucleotide variant (synonymous variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 879022	NM_002855.5(NECTIN1):c.1333G>A (p.Gly445Ser)	NECTIN1 (G445S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 879021	NM_002855.5(NECTIN1):c.1380T>C (p.Tyr460=)	NECTIN1	Single nucleotide variant (synonymous variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878971	NM_002855.5(NECTIN1):c.*537C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GBenign
Select item 878970	NM_002855.5(NECTIN1):c.*554G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878969	NM_002855.5(NECTIN1):c.*607C>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 878968	NM_002855.5(NECTIN1):c.*727T>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GBenign
Select item 878967	NM_002855.5(NECTIN1):c.*736C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 878966	NM_002855.5(NECTIN1):c.*780G>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878965	NM_002855.5(NECTIN1):c.*795C>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878964	NM_002855.5(NECTIN1):c.*853C>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878924	NM_002855.5(NECTIN1):c.*1595C>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 878923	NM_002855.5(NECTIN1):c.*1610G>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GLikely benign
Select item 878922	NM_002855.5(NECTIN1):c.*1654C>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878921	NM_002855.5(NECTIN1):c.*1666C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878920	NM_002855.5(NECTIN1):c.*1760C>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878919	NM_002855.5(NECTIN1):c.*2103C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GLikely benign
Select item 878918	NM_002855.5(NECTIN1):c.*2355C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878917	NM_002855.5(NECTIN1):c.*2374C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878881	NM_002855.5(NECTIN1):c.*3173G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GLikely benign
Select item 878880	NM_002855.5(NECTIN1):c.*3174C>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878879	NM_002855.5(NECTIN1):c.*3185C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878878	NM_002855.5(NECTIN1):c.*3194C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878877	NM_002855.5(NECTIN1):c.*3294G>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878876	NM_002855.5(NECTIN1):c.*3301T>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GBenign
Select item 878875	NM_002855.5(NECTIN1):c.*3351G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878874	NM_002855.5(NECTIN1):c.*3365G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878495	NM_002855.5(NECTIN1):c.-146A>C	NECTIN1	Single nucleotide variant (5 prime UTR variant)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878494	NM_002855.5(NECTIN1):c.-102C>A	NECTIN1	Single nucleotide variant (5 prime UTR variant)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878493	NM_002855.5(NECTIN1):c.-50C>G	NECTIN1	Single nucleotide variant (5 prime UTR variant)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878492	NM_002855.5(NECTIN1):c.3G>A (p.Met1Ile)	NECTIN1 (M1I)	Single nucleotide variant (missense variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878491	NM_002855.5(NECTIN1):c.42G>C (p.Trp14Cys)	NECTIN1 (W14C)	Single nucleotide variant (missense variant)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 878490	NM_002855.5(NECTIN1):c.177C>T (p.Ser59=)	NECTIN1	Single nucleotide variant (synonymous variant)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878434	NM_002855.5(NECTIN1):c.1422C>T (p.Ala474=)	NECTIN1	Single nucleotide variant (synonymous variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878433	NM_002855.5(NECTIN1):c.1438G>A (p.Gly480Ser)	NECTIN1 (G480S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 878432	NM_002855.5(NECTIN1):c.1471G>A (p.Asp491Asn)	NECTIN1 (D491N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 878431	NM_002855.5(NECTIN1):c.1520G>A (p.Gly507Glu)	NECTIN1 (G507E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 878430	NM_002855.5(NECTIN1):c.*5C>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 878429	NM_002855.5(NECTIN1):c.*46T>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878428	NM_002855.5(NECTIN1):c.*51G>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878382	NM_002855.5(NECTIN1):c.*883T>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878381	NM_002855.5(NECTIN1):c.*886C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878380	NM_002855.5(NECTIN1):c.*917G>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878379	NM_002855.5(NECTIN1):c.*961G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 878378	NM_002855.5(NECTIN1):c.*1087G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878377	NM_002855.5(NECTIN1):c.*1108G>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878376	NM_002855.5(NECTIN1):c.*1120T>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878375	NM_002855.5(NECTIN1):c.*1126C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878339	NM_002855.5(NECTIN1):c.*2397A>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878338	NM_002855.5(NECTIN1):c.*2398G>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878337	NM_002855.5(NECTIN1):c.*2413A>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878336	NM_002855.5(NECTIN1):c.*2416A>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 878335	NM_002855.5(NECTIN1):c.*2439G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878334	NM_002855.5(NECTIN1):c.*2481A>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GLikely benign
Select item 878333	NM_002855.5(NECTIN1):c.*2509G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878332	NM_002855.5(NECTIN1):c.*2551T>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878284	NM_002855.5(NECTIN1):c.*3405A>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878283	NM_002855.5(NECTIN1):c.*3425G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878282	NM_002855.5(NECTIN1):c.*3426C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878281	NM_002855.5(NECTIN1):c.*3440G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 878280	NM_002855.5(NECTIN1):c.*3488C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878279	NM_002855.5(NECTIN1):c.*3545C>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878278	NM_002855.5(NECTIN1):c.*3567G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance

<< First< Prev

Page of 2