C1843003[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033609	NM_003737.4(DCHS1):c.6415C>T (p.Arg2139Trp)	DCHS1 (R2139W)	Single nucleotide variant (missense variant)	Mitral valve prolapse, myxomatous 2 +1 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 +1 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 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 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 +1 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