Related gene-specific medical variations for Gene (Select 8642) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065424	NM_003737.4(DCHS1):c.9145G>C (p.Glu3049Gln)	DCHS1, LOC130005209 (E3049Q)	Single nucleotide variant (missense variant)	Mitral valve prolapse, myxomatous 2	GUncertain significance
Select item 3065328	NM_003737.4(DCHS1):c.6380G>C (p.Arg2127Pro)	DCHS1 (R2127P)	Single nucleotide variant (missense variant)	Mitral valve prolapse, myxomatous 2	GUncertain significance
Select item 3022590	NM_003737.4(DCHS1):c.9181G>A (p.Ala3061Thr)	DCHS1, LOC130005209 (A3061T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874965	NM_003737.4(DCHS1):c.9173C>G (p.Ser3058Cys)	DCHS1, LOC130005209 (S3058C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779363	NM_003737.4(DCHS1):c.9150C>T (p.Phe3050=)	DCHS1, LOC130005209	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672218	NM_003737.4(DCHS1):c.3017G>A (p.Arg1006His)	DCHS1 (R1006H)	Single nucleotide variant (missense variant)	Lymphedema	GUncertain significance
Select item 2672203	NM_003737.4(DCHS1):c.767A>G (p.Asn256Ser)	DCHS1 (N256S)	Single nucleotide variant (missense variant)	Lymphedema	GUncertain significance
Select item 2440717	NM_003737.4(DCHS1):c.7645C>T (p.Arg2549Trp)	DCHS1 (R2549W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440716	NM_003737.4(DCHS1):c.6301C>A (p.Pro2101Thr)	DCHS1 (P2101T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440715	NM_003737.4(DCHS1):c.4442C>T (p.Pro1481Leu)	DCHS1 (P1481L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440714	NM_003737.4(DCHS1):c.7441A>G (p.Ser2481Gly)	DCHS1 (S2481G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054591	NM_003737.4(DCHS1):c.9155G>A (p.Arg3052His)	DCHS1, LOC130005209 (R3052H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1950202	NM_003737.4(DCHS1):c.9159G>T (p.Val3053=)	DCHS1, LOC130005209	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601975	NM_003737.4(DCHS1):c.9201A>G (p.Ser3067=)	DCHS1, LOC130005209	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1379936	NM_003737.4(DCHS1):c.9154C>T (p.Arg3052Cys)	DCHS1, LOC130005209 (R3052C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994360	NM_003737.4(DCHS1):c.6403G>A (p.Glu2135Lys)	DCHS1 (E2135K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994359	NM_003737.4(DCHS1):c.9506G>A (p.Trp3169Ter)	DCHS1 (W3169*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 749231	NM_003737.4(DCHS1):c.9186C>T (p.Ala3062=)	DCHS1, LOC130005209	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 591748	NM_003737.4(DCHS1):c.6089_6090delinsTT (p.Gly2030Val)	DCHS1 (G2030V)	Indel (missense variant)	not provided	GUncertain significance
Select item 591279	NM_003737.4(DCHS1):c.2995C>T (p.Arg999Ter)	DCHS1 (R999*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591106	NM_003737.4(DCHS1):c.6208del (p.Arg2070fs)	DCHS1 (R2070fs)	Deletion (frameshift variant)	not provided	GUncertain significance

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Links from Gene

Items: 21