Related gene-specific medical variations for Gene (Select 28990) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3048711	NM_014065.4(ASTE1):c.1708C>T (p.Arg570Ter)	ASTE1, ATP2C1 (R570* +1 more)	Single nucleotide variant (missense variant +3 more)	ASTE1-related disorder	GLikely benign
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 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 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 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 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 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 1234464	NM_001001485.3(ATP2C1):c.2630-98dup	ASTE1, ATP2C1	Duplication (intron variant)	not provided	GBenign