"Baylor Genetics"[submitter] AND "DCHS1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028648	NM_003737.4(DCHS1):c.6956A>C (p.Gln2319Pro)	DCHS1 (Q2319P)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 1	GUncertain significance
Select item 1033609	NM_003737.4(DCHS1):c.6415C>T (p.Arg2139Trp)	DCHS1 (R2139W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1033608	NM_003737.4(DCHS1):c.6209G>T (p.Arg2070Leu)	DCHS1 (R2070L)	Single nucleotide variant (missense variant)	Mitral valve prolapse, myxomatous 2	GUncertain significance
Select item 1033607	NM_003737.4(DCHS1):c.5809G>T (p.Ala1937Ser)	DCHS1 (A1937S)	Single nucleotide variant (missense variant)	Mitral valve prolapse, myxomatous 2 +2 more	GUncertain significance
Select item 1028154	NM_003737.4(DCHS1):c.5679C>A (p.Tyr1893Ter)	DCHS1 (Y1893*)	Single nucleotide variant (nonsense)	Mitral valve prolapse, myxomatous 2	GPathogenic
Select item 1028153	NM_003737.4(DCHS1):c.4798G>T (p.Ala1600Ser)	DCHS1 (A1600S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 289966	NM_003737.4(DCHS1):c.4072G>A (p.Glu1358Lys)	DCHS1 (E1358K)	Single nucleotide variant (missense variant)	DCHS1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1028650	NM_003737.4(DCHS1):c.3785A>T (p.Glu1262Val)	DCHS1 (E1262V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1033606	NM_003737.4(DCHS1):c.3416G>C (p.Arg1139Pro)	DCHS1 (R1139P)	Single nucleotide variant (missense variant)	Mitral valve prolapse, myxomatous 2 +1 more	GUncertain significance
Select item 426125	NM_003737.4(DCHS1):c.2699C>T (p.Thr900Met)	DCHS1 (T900M)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1028152	NM_003737.4(DCHS1):c.1442C>A (p.Pro481His)	DCHS1 (P481H)	Single nucleotide variant (missense variant)	Mitral valve prolapse, myxomatous 2	GUncertain significance
Select item 2441984	NM_003737.4(DCHS1):c.1330G>T (p.Ala444Ser)	DCHS1 (A444S)	Single nucleotide variant (missense variant)	Mitral valve prolapse, myxomatous 2 +2 more	GUncertain significance
Select item 1033610	NM_003737.4(DCHS1):c.994G>A (p.Val332Met)	DCHS1 (V332M)	Single nucleotide variant (missense variant)	Mitral valve prolapse, myxomatous 2	GUncertain significance
Select item 1028649	NM_003737.4(DCHS1):c.868G>T (p.Val290Leu)	DCHS1 (V290L)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 1	GUncertain significance
Select item 451612	NM_003737.4(DCHS1):c.704G>A (p.Arg235Gln)	DCHS1 (R235Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1028155	NM_003737.4(DCHS1):c.590C>T (p.Pro197Leu)	DCHS1 (P197L)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic