"PreventionGenetics, part of Exact Sciences"[submitter] AND "ATP1A1"[g - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1424041	NM_000701.8(ATP1A1):c.53A>G (p.Gln18Arg)	ATP1A1 (Q18R)	Single nucleotide variant (missense variant +1 more)	ATP1A1-related disorder +1 more	GUncertain significance
Select item 1353537	NM_000701.8(ATP1A1):c.183+3A>G	ATP1A1	Single nucleotide variant (intron variant)	ATP1A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1581560	NM_000701.8(ATP1A1):c.414C>T (p.Ala138=)	ATP1A1	Single nucleotide variant (synonymous variant)	ATP1A1-related disorder +1 more	GLikely benign
Select item 1275937	NM_000701.8(ATP1A1):c.741C>A (p.Thr247=)	ATP1A1	Single nucleotide variant (synonymous variant)	Hypomagnesemia, seizures, and intellectual disability 2 +3 more	GBenign
Select item 1464828	NM_000701.8(ATP1A1):c.1184A>G (p.Asn395Ser)	ATP1A1 (N364S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1548510	NM_000701.8(ATP1A1):c.1222+7C>G	ATP1A1	Single nucleotide variant (intron variant)	ATP1A1-related disorder +1 more	GBenign
Select item 1636972	NM_000701.8(ATP1A1):c.1422C>T (p.Tyr474=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2789221	NM_000701.8(ATP1A1):c.1556G>A (p.Ser519Asn)	ATP1A1, ATP1A1-AS1 (S488N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1450131	NM_000701.8(ATP1A1):c.1578G>A (p.Lys526=)	ATP1A1-AS1, ATP1A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1544613	NM_000701.8(ATP1A1):c.1920C>T (p.Thr640=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	ATP1A1-related disorder +1 more	GLikely benign
Select item 1562493	NM_000701.8(ATP1A1):c.2325C>T (p.Ser775=)	ATP1A1-AS1, ATP1A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1561465	NM_000701.8(ATP1A1):c.2449-7T>C	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1538713	NM_000701.8(ATP1A1):c.2475G>A (p.Glu825=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 782733	NM_000701.8(ATP1A1):c.2541G>A (p.Glu847=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1308239	NM_000701.8(ATP1A1):c.2707G>A (p.Gly903Arg)	ATP1A1, ATP1A1-AS1 (G872R +1 more)	Single nucleotide variant (missense variant +1 more)	ATP1A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1653678	NM_000701.8(ATP1A1):c.2739C>T (p.Ile913=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1559413	NM_000701.8(ATP1A1):c.2829G>A (p.Ser943=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2631244	NM_000701.8(ATP1A1):c.2926G>T (p.Val976Phe)	ATP1A1, ATP1A1-AS1 (V945F +1 more)	Single nucleotide variant (missense variant)	ATP1A1-related disorder	GUncertain significance
Select item 3032847	NM_000701.8(ATP1A1):c.3044G>T (p.Gly1015Val)	ATP1A1, ATP1A1-AS1 (G1015V +1 more)	Single nucleotide variant (missense variant)	ATP1A1-related disorder	GUncertain significance
Select item 1288743	NM_000701.8(ATP1A1):c.3057G>A (p.Lys1019=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	ATP1A1-related disorder +3 more	GBenign

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Items: 20