"Ambry Genetics"[submitter] AND "ASTE1"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2373613	NM_014065.4(ASTE1):c.1949A>G (p.His650Arg)	ASTE1, ATP2C1 (H675R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517230	NM_014065.4(ASTE1):c.1856T>C (p.Ile619Thr)	ASTE1, ATP2C1 (I644T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3130525	NM_014065.4(ASTE1):c.1816T>C (p.Tyr606His)	ASTE1, ATP2C1 (Y631H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2291555	NM_014065.4(ASTE1):c.1607T>C (p.Leu536Ser)	ASTE1, ATP2C1 (L536S)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2400763	NM_014065.4(ASTE1):c.1586G>A (p.Arg529Gln)	ASTE1, ATP2C1 (R529Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2608804	NM_014065.4(ASTE1):c.1577C>T (p.Ala526Val)	ASTE1, ATP2C1 (A526V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2265049	NM_014065.4(ASTE1):c.1540G>A (p.Ala514Thr)	ASTE1, ATP2C1 (A514T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2615831	NM_014065.4(ASTE1):c.1313G>A (p.Arg438Lys)	ASTE1 (R438K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318994	NM_014065.4(ASTE1):c.1261G>A (p.Glu421Lys)	ASTE1 (E421K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319015	NM_014065.4(ASTE1):c.1016C>G (p.Ser339Cys)	ASTE1 (S339C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209305	NM_014065.4(ASTE1):c.944A>G (p.Tyr315Cys)	ASTE1 (Y315C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318983	NM_014065.4(ASTE1):c.900A>C (p.Gln300His)	ASTE1 (Q300H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529658	NM_014065.4(ASTE1):c.830T>G (p.Leu277Arg)	ASTE1 (L277R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319005	NM_014065.4(ASTE1):c.826G>A (p.Val276Ile)	ASTE1 (V276I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486819	NM_014065.4(ASTE1):c.804C>G (p.Asn268Lys)	ASTE1 (N268K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488374	NM_014065.4(ASTE1):c.764G>A (p.Arg255Gln)	ASTE1 (R255Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130527	NM_014065.4(ASTE1):c.724C>A (p.Pro242Thr)	ASTE1 (P242T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239215	NM_014065.4(ASTE1):c.716C>T (p.Ala239Val)	ASTE1 (A239V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2496300	NM_014065.4(ASTE1):c.709A>G (p.Ser237Gly)	ASTE1 (S237G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267130	NM_014065.4(ASTE1):c.708A>C (p.Leu236Phe)	ASTE1 (L236F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247658	NM_014065.4(ASTE1):c.664T>C (p.Cys222Arg)	ASTE1 (C222R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260931	NM_014065.4(ASTE1):c.427C>T (p.Arg143Trp)	ASTE1 (R143W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130526	NM_014065.4(ASTE1):c.392G>A (p.Arg131Gln)	ASTE1 (R131Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2391359	NM_014065.4(ASTE1):c.332G>A (p.Ser111Asn)	ASTE1 (S111N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550786	NM_014065.4(ASTE1):c.296A>T (p.Lys99Met)	ASTE1 (K99M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377929	NM_014065.4(ASTE1):c.143G>A (p.Arg48Gln)	ASTE1 (R48Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319023	NM_014065.4(ASTE1):c.140T>G (p.Leu47Arg)	ASTE1 (L47R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600853	NM_014065.4(ASTE1):c.139C>A (p.Leu47Ile)	ASTE1 (L47I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388020	NM_014065.4(ASTE1):c.136G>T (p.Asp46Tyr)	ASTE1 (D46Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130528	NM_014065.4(ASTE1):c.77C>T (p.Thr26Ile)	ASTE1 (T26I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318973	NM_014065.4(ASTE1):c.41G>C (p.Ser14Thr)	ASTE1 (S14T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 31