Related gene-specific medical variations for Gene (Select 492) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064192	NM_001001344.3(ATP2B3):c.971A>G (p.Asp324Gly)	ATP2B3 (D310G +1 more)	Single nucleotide variant (missense variant)	X-linked progressive cerebellar ataxia	GUncertain significance
Select item 2441939	NM_001001344.3(ATP2B3):c.4G>A (p.Gly2Ser)	ATP2B3 (G2S)	Single nucleotide variant (missense variant)	X-linked progressive cerebellar ataxia	GUncertain significance
Select item 2439380	NM_001001344.3(ATP2B3):c.1810A>T (p.Ile604Phe)	ATP2B3 (I590F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439379	NM_001001344.3(ATP2B3):c.188_197delinsAGACTT (p.Leu63fs)	ATP2B3 (L63fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 2439378	NM_001001344.3(ATP2B3):c.122G>A (p.Arg41Gln)	ATP2B3 (R41Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676573	NM_001001344.3(ATP2B3):c.2625+3_2625+6del	ATP2B3	Deletion	not provided	GUncertain significance
Select item 1319651	NM_001001344.3(ATP2B3):c.1033C>G (p.Arg345Gly)	ATP2B3 (R345G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807835	NM_001001344.3(ATP2B3):c.3646G>C (p.Val1216Leu)	ATP2B3 (V1216L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 807832	NM_001001344.3(ATP2B3):c.2213G>A (p.Arg738Gln)	ATP2B3 (R738Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 152791	GRCh38/hg38 Xq28(chrX:153539888-153560274)x1	ATP2B3	Copy number loss	See cases	GUncertain significance