"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ATP1A2"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 204910	NM_000702.4(ATP1A2):c.192G>T (p.Gln64His)	ATP1A2 (Q64H)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 1 +4 more	GUncertain significance
Select item 128485	NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)	ATP1A2 (G114S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 430293	NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr)	ATP1A2 (A297T)	Single nucleotide variant (missense variant)	ATP1A2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 567135	NM_000702.4(ATP1A2):c.1097G>A (p.Gly366Asp)	ATP1A2 (G366D)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +2 more	GUncertain significance
Select item 406194	NM_000702.4(ATP1A2):c.1262G>A (p.Arg421Gln)	ATP1A2 (R421Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 387342	NM_000702.4(ATP1A2):c.1282C>T (p.Arg428Cys)	ATP1A2 (R428C)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 1 +4 more	GUncertain significance
Select item 204889	NM_000702.4(ATP1A2):c.1501G>A (p.Val501Met)	ATP1A2 (V501M)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +5 more	GLikely benign
Select item 570135	NM_000702.4(ATP1A2):c.1550C>A (p.Thr517Asn)	ATP1A2 (T517N)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 204908	NM_000702.4(ATP1A2):c.1690C>T (p.Arg564Trp)	ATP1A2 (R564W)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 1 +4 more	GUncertain significance
Select item 384176	NM_000702.4(ATP1A2):c.1859C>G (p.Thr620Arg)	ATP1A2 (T620R)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 1 +5 more	GUncertain significance
Select item 575386	NM_000702.4(ATP1A2):c.2062G>T (p.Ala688Ser)	ATP1A2 (A688S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 446871	NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg)	ATP1A2 (G855R)	Single nucleotide variant (missense variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +5 more	GPathogenic
Select item 194925	NM_000702.4(ATP1A2):c.2675T>C (p.Met892Thr)	ATP1A2 (M892T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 446872	NM_000702.4(ATP1A2):c.2680G>T (p.Asp894Tyr)	ATP1A2 (D894Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 390229	NM_000702.4(ATP1A2):c.2770G>A (p.Val924Met)	ATP1A2 (V924M)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +3 more	GUncertain significance
Select item 136457	NM_000702.4(ATP1A2):c.2943-15C>T	ATP1A2	Single nucleotide variant (intron variant)	not provided +6 more	GBenign/Likely benign