ClinVar for Gene (Select 84852) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066218	NM_000701.8(ATP1A1):c.1888G>C (p.Gly630Arg)	ATP1A1, ATP1A1-AS1 (G599R +1 more)	Single nucleotide variant (missense variant)	Charcot-marie-tooth disease, axonal, type 2DD	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 condition	GUncertain significance
Select item 3023719	NM_000701.8(ATP1A1):c.1467+10T>C	ATP1A1, ATP1A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3021065	NM_000701.8(ATP1A1):c.1680G>A (p.Leu560=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020112	NM_000701.8(ATP1A1):c.3044-13T>C	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012590	NM_000701.8(ATP1A1):c.1509C>A (p.His503Gln)	ATP1A1, ATP1A1-AS1 (H472Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006868	NM_000701.8(ATP1A1):c.2572+9C>T	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006614	NM_000701.8(ATP1A1):c.2124+10C>T	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005262	NM_000701.8(ATP1A1):c.1660+4_1660+12dup	ATP1A1, ATP1A1-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 3005206	NM_000701.8(ATP1A1):c.2719-16G>T	ATP1A1, ATP1A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3003338	NM_000701.8(ATP1A1):c.3018A>G (p.Lys1006=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002846	NM_000701.8(ATP1A1):c.2952-16C>T	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001885	NM_000701.8(ATP1A1):c.2118A>G (p.Gln706=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998156	NM_000701.8(ATP1A1):c.2719-15T>C	ATP1A1, ATP1A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2996672	NM_000701.8(ATP1A1):c.1932T>C (p.Ile644=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994924	NM_000701.8(ATP1A1):c.1726G>C (p.Val576Leu)	ATP1A1, ATP1A1-AS1 (V545L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994824	NM_000701.8(ATP1A1):c.2403A>G (p.Pro801=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993455	NM_000701.8(ATP1A1):c.2361C>T (p.Ile787=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988915	NM_000701.8(ATP1A1):c.1468-9C>G	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988730	NM_000701.8(ATP1A1):c.1718C>A (p.Thr573Asn)	ATP1A1, ATP1A1-AS1 (T542N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988526	NM_000701.8(ATP1A1):c.1660+8del	ATP1A1, ATP1A1-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2986874	NM_000701.8(ATP1A1):c.1538G>A (p.Arg513Lys)	ATP1A1, ATP1A1-AS1 (R482K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986711	NM_000701.8(ATP1A1):c.2989_2991del (p.Leu997del)	ATP1A1, ATP1A1-AS1 (L966del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2985704	NM_000701.8(ATP1A1):c.2026G>A (p.Glu676Lys)	ATP1A1, ATP1A1-AS1 (E645K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985579	NM_000701.8(ATP1A1):c.1836+6G>T	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2985459	NM_000701.8(ATP1A1):c.2124+13A>G	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985153	NM_000701.8(ATP1A1):c.1452C>A (p.Ser484=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2984898	NM_000701.8(ATP1A1):c.2769C>T (p.Phe923=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984475	NM_000701.8(ATP1A1):c.2125-16C>T	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983679	NM_000701.8(ATP1A1):c.1431C>T (p.Ile477=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983202	NM_000701.8(ATP1A1):c.1974-14T>G	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981749	NM_000701.8(ATP1A1):c.2349C>T (p.Asn783=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981707	NM_000701.8(ATP1A1):c.2124+15G>C	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979360	NM_000701.8(ATP1A1):c.2849+17A>T	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978069	NM_000701.8(ATP1A1):c.1409T>C (p.Met470Thr)	ATP1A1, ATP1A1-AS1 (M439T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2976783	NM_000701.8(ATP1A1):c.2125-6G>A	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975989	NM_000701.8(ATP1A1):c.2998G>A (p.Val1000Ile)	ATP1A1, ATP1A1-AS1 (V1000I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967692	NM_000701.8(ATP1A1):c.2757C>T (p.His919=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967192	NM_000701.8(ATP1A1):c.2061G>A (p.Glu687=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956770	NM_000701.8(ATP1A1):c.2607C>T (p.Tyr869=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908146	NM_000701.8(ATP1A1):c.1746T>G (p.Asn582Lys)	ATP1A1, ATP1A1-AS1 (N551K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906691	NM_000701.8(ATP1A1):c.1588C>T (p.Leu530=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895756	NM_000701.8(ATP1A1):c.2184A>G (p.Ala728=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894489	NM_000701.8(ATP1A1):c.2448+3G>A	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2879602	NM_000701.8(ATP1A1):c.2727G>T (p.Glu909Asp)	ATP1A1, ATP1A1-AS1 (E909D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878651	NM_000701.8(ATP1A1):c.2984C>G (p.Ser995Cys)	ATP1A1, ATP1A1-AS1 (S964C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877221	NM_000701.8(ATP1A1):c.2859C>A (p.Ile953=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877142	NM_000701.8(ATP1A1):c.2951+14C>G	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873612	NM_000701.8(ATP1A1):c.2449-19_2449-17del	ATP1A1, ATP1A1-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2872406	NM_000701.8(ATP1A1):c.1608C>G (p.Asp536Glu)	ATP1A1, ATP1A1-AS1 (D505E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870635	NM_000701.8(ATP1A1):c.2835C>T (p.Phe945=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869882	NM_000701.8(ATP1A1):c.1671C>A (p.His557Gln)	ATP1A1, ATP1A1-AS1 (H526Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2868629	NM_000701.8(ATP1A1):c.2763C>T (p.Ala921=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861047	NM_000701.8(ATP1A1):c.1944C>A (p.Leu648=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859121	NM_000701.8(ATP1A1):c.1974-3T>C	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2858630	NM_000701.8(ATP1A1):c.1769C>T (p.Ser590Phe)	ATP1A1, ATP1A1-AS1 (S559F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850854	NM_000701.8(ATP1A1):c.2294-16A>G	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846170	NM_000701.8(ATP1A1):c.1931T>C (p.Ile644Thr)	ATP1A1, ATP1A1-AS1 (I613T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839641	NM_000701.8(ATP1A1):c.2440A>C (p.Thr814Pro)	ATP1A1, ATP1A1-AS1 (T783P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2834645	NM_000701.8(ATP1A1):c.1982A>G (p.Lys661Arg)	ATP1A1-AS1, ATP1A1 (K661R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834267	NM_000701.8(ATP1A1):c.1899C>A (p.Ile633=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832297	NM_000701.8(ATP1A1):c.2719-14C>T	ATP1A1, ATP1A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2828830	NM_000701.8(ATP1A1):c.2956_2959dup (p.Trp987fs)	ATP1A1, ATP1A1-AS1 (W956fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2826193	NM_000701.8(ATP1A1):c.2400A>G (p.Leu800=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2825915	NM_000701.8(ATP1A1):c.1939C>G (p.Arg647Gly)	ATP1A1, ATP1A1-AS1 (R647G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824986	NM_000701.8(ATP1A1):c.1418G>T (p.Arg473Ile)	ATP1A1, ATP1A1-AS1 (R442I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2823912	NM_000701.8(ATP1A1):c.2325C>G (p.Ser775=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821399	NM_000701.8(ATP1A1):c.2886A>G (p.Thr962=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821092	NM_000701.8(ATP1A1):c.2719-18_2719-17dup	ATP1A1, ATP1A1-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2820204	NM_000701.8(ATP1A1):c.1548C>T (p.Asp516=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816825	NM_000701.8(ATP1A1):c.2934dup (p.Arg979Ter)	ATP1A1, ATP1A1-AS1 (R948* +1 more)	Duplication (nonsense)	not provided	GUncertain significance
Select item 2815197	NM_000701.8(ATP1A1):c.1424C>T (p.Ala475Val)	ATP1A1, ATP1A1-AS1 (A475V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2814739	NM_000701.8(ATP1A1):c.2139T>C (p.Ala713=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805952	NM_000701.8(ATP1A1):c.1836+16C>T	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805850	NM_000701.8(ATP1A1):c.2817C>T (p.Thr939=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803390	NM_000701.8(ATP1A1):c.1973+16C>G	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803363	NM_000701.8(ATP1A1):c.2849+19G>A	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800358	NM_000701.8(ATP1A1):c.2427C>T (p.Cys809=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2797930	NM_000701.8(ATP1A1):c.1837-13T>A	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795868	NM_000701.8(ATP1A1):c.2374A>T (p.Ile792Leu)	ATP1A1, ATP1A1-AS1 (I792L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2794414	NM_000701.8(ATP1A1):c.1549C>T (p.Arg517Cys)	ATP1A1, ATP1A1-AS1 (R517C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792695	NM_000701.8(ATP1A1):c.2163C>T (p.Asp721=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791523	NM_000701.8(ATP1A1):c.2924G>T (p.Gly975Val)	ATP1A1, ATP1A1-AS1 (G975V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790962	NM_000701.8(ATP1A1):c.2849+3A>G	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2789221	NM_000701.8(ATP1A1):c.1556G>A (p.Ser519Asn)	ATP1A1, ATP1A1-AS1 (S488N +1 more)	Single nucleotide variant (missense variant)	ATP1A1-related condition +1 more	GUncertain significance
Select item 2788580	NM_000701.8(ATP1A1):c.2850-18C>T	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785123	NM_000701.8(ATP1A1):c.3034C>G (p.Arg1012Gly)	ATP1A1, ATP1A1-AS1 (R1012G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784299	NM_000701.8(ATP1A1):c.1415A>G (p.Glu472Gly)	ATP1A1, ATP1A1-AS1 (E441G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2783840	NM_000701.8(ATP1A1):c.2653G>A (p.Gly885Ser)	ATP1A1, ATP1A1-AS1 (G885S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2780120	NM_000701.8(ATP1A1):c.2124+12C>A	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769801	NM_000701.8(ATP1A1):c.2293+14A>C	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769625	NM_000701.8(ATP1A1):c.2392A>G (p.Ile798Val)	ATP1A1, ATP1A1-AS1 (I767V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2767703	NM_000701.8(ATP1A1):c.1468-20G>A	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762749	NM_000701.8(ATP1A1):c.1889G>C (p.Gly630Ala)	ATP1A1, ATP1A1-AS1 (G599A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761774	NM_000701.8(ATP1A1):c.2328T>C (p.Ile776=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747508	NM_000701.8(ATP1A1):c.1946A>C (p.Asn649Thr)	ATP1A1, ATP1A1-AS1 (N618T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745167	NM_000701.8(ATP1A1):c.1938C>A (p.Ala646=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742726	NM_000701.8(ATP1A1):c.2242A>G (p.Met748Val)	ATP1A1, ATP1A1-AS1 (M748V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2741605	NM_000701.8(ATP1A1):c.2121A>G (p.Arg707=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2735383	NM_000701.8(ATP1A1):c.2952-8A>G	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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