Related gene-specific medical variations for Gene (Select 27032) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064721	NM_001378687.1(ATP2C1):c.2167A>G (p.Met723Val)	ATP2C1 (M707V +3 more)	Single nucleotide variant (missense variant)	Familial benign pemphigus	GUncertain significance
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 condition	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 1264346	NM_001378687.1(ATP2C1):c.900-1G>C	ATP2C1	Single nucleotide variant (splice acceptor variant)	Familial benign pemphigus	GPathogenic
Select item 1234464	NM_014065.4(ASTE1):c.1709+100dup	ATP2C1, ASTE1	Duplication (intron variant)	not provided	GBenign
Select item 443185	GRCh37/hg19 3q22.1(chr3:130601006-130647057)x3	ATP2C1	Copy number gain	See cases	GUncertain significance
Select item 442289	GRCh37/hg19 3q22.1(chr3:130601154-130645418)x3	ATP2C1	Copy number gain	See cases	GUncertain significance