Related gene-specific medical variations for Gene (Select 9068) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2542211	NM_004673.4(ANGPTL1):c.84T>G (p.Ile28Met)	ANGPTL1, RALGPS2 (I28M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493838	NM_004673.4(ANGPTL1):c.1294T>C (p.Cys432Arg)	ANGPTL1, RALGPS2 (C432R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490838	NM_004673.4(ANGPTL1):c.907G>A (p.Gly303Arg)	ANGPTL1, RALGPS2 (G303R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472330	NM_004673.4(ANGPTL1):c.1193G>A (p.Arg398His)	ANGPTL1, RALGPS2 (R398H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404539	NM_004673.4(ANGPTL1):c.976G>C (p.Asp326His)	ANGPTL1, RALGPS2 (D326H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402444	NM_004673.4(ANGPTL1):c.966G>C (p.Gln322His)	RALGPS2, ANGPTL1 (Q322H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385302	NM_004673.4(ANGPTL1):c.641C>A (p.Pro214Gln)	RALGPS2, ANGPTL1 (P214Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373598	NM_004673.4(ANGPTL1):c.11T>C (p.Phe4Ser)	RALGPS2, ANGPTL1 (F4S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350981	NM_004673.4(ANGPTL1):c.479A>G (p.Asn160Ser)	ANGPTL1, RALGPS2 (N160S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315613	NM_004673.4(ANGPTL1):c.1309A>G (p.Lys437Glu)	RALGPS2, ANGPTL1 (K437E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314859	NM_004673.4(ANGPTL1):c.1457T>C (p.Met486Thr)	RALGPS2, ANGPTL1 (M486T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309238	NM_004673.4(ANGPTL1):c.1261C>G (p.Leu421Val)	ANGPTL1, RALGPS2 (L421V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301999	NM_004673.4(ANGPTL1):c.1406T>G (p.Phe469Cys)	ANGPTL1, RALGPS2 (F469C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288930	NM_004673.4(ANGPTL1):c.1210G>A (p.Gly404Arg)	RALGPS2, ANGPTL1 (G404R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270737	NM_004673.4(ANGPTL1):c.1469T>A (p.Ile490Asn)	RALGPS2, ANGPTL1 (I490N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267669	NM_004673.4(ANGPTL1):c.866C>G (p.Ser289Trp)	RALGPS2, ANGPTL1 (S289W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261054	NM_004673.4(ANGPTL1):c.607A>G (p.Ile203Val)	RALGPS2, ANGPTL1 (I203V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244509	NM_004673.4(ANGPTL1):c.794A>G (p.Lys265Arg)	ANGPTL1, RALGPS2 (K265R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208785	NM_004673.4(ANGPTL1):c.839G>A (p.Cys280Tyr)	ANGPTL1, RALGPS2 (C280Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 784965	NM_004673.4(ANGPTL1):c.1266C>T (p.Asp422=)	ANGPTL1, RALGPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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Links from Gene

Items: 20