"OMIM"[submitter] AND "ATP1A2"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12929	NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp)	ATP1A2 (R65W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 549760	NM_000702.4(ATP1A2):c.295_296dup (p.Ile100fs)	ATP1A2 (I100fs)	Microsatellite (frameshift variant)	Polymicrogyria	GPathogenic
Select item 222078	NM_000702.4(ATP1A2):c.571G>A (p.Val191Met)	ATP1A2, LOC126805890 (V191M)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GPathogenic
Select item 586989	NM_000702.4(ATP1A2):c.835del (p.Arg279fs)	ATP1A2 (R279fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 12927	NM_000702.4(ATP1A2):c.857T>C (p.Ile286Thr)	ATP1A2 (I286T)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GLikely pathogenic
Select item 12922	NM_000702.4(ATP1A2):c.901G>A (p.Gly301Arg)	ATP1A2 (G301R)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GPathogenic
Select item 383452	NM_000702.4(ATP1A2):c.1022G>T (p.Cys341Phe)	ATP1A2 (C341F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 12923	NM_000702.4(ATP1A2):c.1033A>G (p.Thr345Ala)	ATP1A2 (T345A)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GPathogenic
Select item 373628	NM_000702.4(ATP1A2):c.1097G>C (p.Gly366Ala)	ATP1A2 (G366A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 12921	NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn)	ATP1A2 (T378N)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 1 +1 more	GPathogenic/Likely pathogenic
Select item 12928	NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met)	ATP1A2 (T415M)	Single nucleotide variant (missense variant)	ATP1A2-related condition +3 more	GUncertain significance
Select item 12926	NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His)	ATP1A2 (R548H)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +3 more	GPathogenic/Likely pathogenic
Select item 12920	NM_000702.4(ATP1A2):c.2066G>A (p.Arg689Gln)	ATP1A2 (R689Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 562228	NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs)	ATP1A2 (C702fs)	Deletion (frameshift variant)	Familial hemiplegic migraine	GPathogenic
Select item 12924	NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn)	ATP1A2 (D718N)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GLikely pathogenic
Select item 12919	NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr)	ATP1A2 (M731T)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GLikely pathogenic
Select item 12917	NM_000702.4(ATP1A2):c.2291T>C (p.Leu764Pro)	ATP1A2 (L764P)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GPathogenic
Select item 1321203	NM_000702.4(ATP1A2):c.2336G>A (p.Ser779Asn)	ATP1A2 (S779N)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 1	GLikely pathogenic
Select item 12918	NM_000702.4(ATP1A2):c.2659T>C (p.Trp887Arg)	ATP1A2 (W887R)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GPathogenic
Select item 1216390	NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln)	ATP1A2 (R908Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 549759	NM_000702.4(ATP1A2):c.2869G>T (p.Glu957Ter)	ATP1A2 (E957*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 12925	NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu)	ATP1A2 (P979L)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +2 more	GPathogenic

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Items: 23