C4551950[trait identifier] AND "PreventionGenetics, part of Exact Scie - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259141	NM_003737.4(DCHS1):c.6365-11A>G	DCHS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2505282	NM_003737.4(DCHS1):c.5851C>A (p.Arg1951Ser)	DCHS1 (R1951S)	Single nucleotide variant (missense variant)	Mitral valve prolapse, myxomatous 2 +1 more	GUncertain significance
Select item 259140	NM_003737.4(DCHS1):c.5846C>T (p.Thr1949Met)	DCHS1 (T1949M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 259139	NM_003737.4(DCHS1):c.4215T>C (p.Leu1405=)	DCHS1	Single nucleotide variant (synonymous variant)	Van Maldergem syndrome 1 +2 more	GBenign
Select item 289966	NM_003737.4(DCHS1):c.4072G>A (p.Glu1358Lys)	DCHS1 (E1358K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 259138	NM_003737.4(DCHS1):c.3696G>A (p.Pro1232=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 224097	NM_003737.4(DCHS1):c.3158G>C (p.Trp1053Ser)	DCHS1 (W1053S)	Single nucleotide variant (missense variant)	DCHS1-related disorder +2 more	GLikely benign
Select item 259137	NM_003737.4(DCHS1):c.1986+17A>T	DCHS1	Single nucleotide variant (intron variant)	Van Maldergem syndrome 1 +2 more	GBenign
Select item 259136	NM_003737.4(DCHS1):c.1902C>T (p.His634=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign

ClinVar