ClinVar for MedGen (Select 462157) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434319	NM_030916.3(NECTIN4):c.1490C>T (p.Thr497Met)	NECTIN4 (T497M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia-syndactyly syndrome 1	GUncertain significance
Select item 1032240	NM_030916.3(NECTIN4):c.1387C>G (p.Pro463Ala)	NECTIN4 (P463A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029983	NM_030916.3(NECTIN4):c.1478G>C (p.Arg493Pro)	NECTIN4 (R493P)	Single nucleotide variant (missense variant)	Ectodermal dysplasia-syndactyly syndrome 1	GUncertain significance
Select item 996828	NM_030916.3(NECTIN4):c.880C>T (p.Arg294Ter)	NECTIN4 (R294*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia-syndactyly syndrome 1	GPathogenic
Select item 807665	NM_030916.3(NECTIN4):c.229C>T (p.Gln77Ter)	NECTIN4 (Q77*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia-syndactyly syndrome 1	GPathogenic
Select item 425552	NM_030916.3(NECTIN4):c.181C>T (p.Gln61Ter)	NECTIN4 (Q61*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia-syndactyly syndrome 1	GPathogenic
Select item 425551	NM_030916.3(NECTIN4):c.724G>A (p.Val242Met)	NECTIN4 (V242M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia-syndactyly syndrome 1	GPathogenic
Select item 418440	NM_030916.3(NECTIN4):c.1327C>T (p.Arg443Cys)	NECTIN4 (R443C)	Single nucleotide variant (missense variant)	NECTIN4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 30794	NM_030916.3(NECTIN4):c.635C>G (p.Pro212Arg)	NECTIN4 (P212R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia-syndactyly syndrome 1	GPathogenic
Select item 1602	NM_030916.3(NECTIN4):c.906del (p.Pro304fs)	NECTIN4 (P304fs)	Deletion (frameshift variant)	Ectodermal dysplasia-syndactyly syndrome 1	GPathogenic
Select item 1601	NM_030916.3(NECTIN4):c.554C>T (p.Thr185Met)	NECTIN4 (T185M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia-syndactyly syndrome 1	GPathogenic
Select item 1600	NM_030916.3(NECTIN4):c.851G>A (p.Arg284Gln)	NECTIN4 (R284Q)	Single nucleotide variant (missense variant)	Ectodermal dysplasia-syndactyly syndrome 1	GPathogenic