"Revvity Omics, Revvity"[submitter] AND "ATP1A2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688639	NM_000702.4(ATP1A2):c.361G>A (p.Asp121Asn)	ATP1A2 (D121N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 655259	NM_000702.4(ATP1A2):c.970G>A (p.Gly324Ser)	ATP1A2 (G324S)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GConflicting classifications of pathogenicity
Select item 204885	NM_000702.4(ATP1A2):c.1127C>G (p.Thr376Arg)	ATP1A2 (T376R)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GConflicting classifications of pathogenicity
Select item 12930	NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met)	ATP1A2 (T376M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2439342	NM_000702.4(ATP1A2):c.1250C>T (p.Thr417Met)	ATP1A2 (T417M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 204888	NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)	ATP1A2 (E492K)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +6 more	GConflicting classifications of pathogenicity
Select item 999367	NM_000702.4(ATP1A2):c.1631G>T (p.Gly544Val)	ATP1A2 (G544V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1059051	NM_000702.4(ATP1A2):c.1730C>T (p.Thr577Met)	ATP1A2 (T577M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 874764	NM_000702.4(ATP1A2):c.2015C>T (p.Ser672Leu)	ATP1A2 (S672L)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +3 more	GConflicting classifications of pathogenicity
Select item 1018352	NM_000702.4(ATP1A2):c.2056G>A (p.Val686Ile)	ATP1A2 (V686I)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 2435750	NM_000702.4(ATP1A2):c.2070del (p.Ser691fs)	ATP1A2 (S691fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2439341	NM_000702.4(ATP1A2):c.2611G>A (p.Ala871Thr)	ATP1A2 (A871T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2439340	NM_000702.4(ATP1A2):c.2743T>G (p.Cys915Gly)	ATP1A2 (C915G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance