ClinVar for Gene (Select 6311) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3132234	NM_001372574.1(ATXN2):c.487G>C (p.Glu163Gln)	ATXN2 (E34Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132233	NM_001372574.1(ATXN2):c.353C>G (p.Ser118Cys)	ATXN2 (S13C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3132232	NM_002973.3(ATXN2):c.72G>C (p.Arg24Ser)	ATXN2 (R24S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132231	NM_001372574.1(ATXN2):c.167C>G (p.Ser56Trp)	ATXN2, LOC130008791 (S56W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3132230	NM_001372574.1(ATXN2):c.92C>G (p.Pro31Arg)	ATXN2, LOC130008791 (P31R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3132229	NM_002973.3(ATXN2):c.46G>C (p.Glu16Gln)	ATXN2 (E16Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132228	NM_001372574.1(ATXN2):c.-78C>A	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3132227	NM_001372574.1(ATXN2):c.-80C>T	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3132226	NM_001372574.1(ATXN2):c.2857C>T (p.Pro953Ser)	ATXN2 (P953S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3132225	NM_001372574.1(ATXN2):c.2668A>C (p.Asn890His)	ATXN2 (N888H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132224	NM_001372574.1(ATXN2):c.2233G>A (p.Ala745Thr)	ATXN2 (A616T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132223	NM_001372574.1(ATXN2):c.2096C>T (p.Pro699Leu)	ATXN2 (P570L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132222	NM_001372574.1(ATXN2):c.2054T>C (p.Ile685Thr)	ATXN2 (I556T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3132221	NM_001372574.1(ATXN2):c.2038G>A (p.Ala680Thr)	ATXN2 (A551T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132220	NM_001372574.1(ATXN2):c.2008G>A (p.Asp670Asn)	ATXN2 (D565N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132219	NM_001372574.1(ATXN2):c.1501C>T (p.Pro501Ser)	ATXN2 (P396S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132218	NM_001372574.1(ATXN2):c.1153G>A (p.Val385Ile)	ATXN2 (V256I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132217	NM_001372574.1(ATXN2):c.1099A>G (p.Arg367Gly)	ATXN2 (R262G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132216	NM_001372574.1(ATXN2):c.1000A>G (p.Ile334Val)	ATXN2 (I205V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132215	NM_002973.3(ATXN2):c.146C>A (p.Pro49Gln)	ATXN2 (P49Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3132214	NM_002973.3(ATXN2):c.143G>C (p.Gly48Ala)	ATXN2 (G48A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132213	NM_001372574.1(ATXN2):c.944A>G (p.Gln315Arg)	ATXN2 (Q186R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132211	NM_001372574.1(ATXN2):c.709G>A (p.Asp237Asn)	ATXN2 (D237N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3055440	NM_001372574.1(ATXN2):c.42del (p.Gln14fs)	ATXN2 (Q14fs)	Deletion (frameshift variant +2 more)	ATXN2-related disorder	GLikely benign
Select item 3050481	NM_001372574.1(ATXN2):c.789-8T>C	ATXN2	Single nucleotide variant (intron variant)	ATXN2-related disorder	GLikely benign
Select item 3047600	NM_001372574.1(ATXN2):c.2448A>G (p.Pro816=)	ATXN2	Single nucleotide variant (synonymous variant +1 more)	ATXN2-related disorder	GLikely benign
Select item 3045503	NM_001372574.1(ATXN2):c.60del (p.Gln20fs)	ATXN2, LOC130008791 (Q20fs)	Deletion (frameshift variant +2 more)	ATXN2-related disorder	GLikely benign
Select item 3044160	NM_001372574.1(ATXN2):c.2525-7del	ATXN2	Deletion (intron variant)	ATXN2-related disorder	GBenign
Select item 3043166	NM_001372574.1(ATXN2):c.-154C>T	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR variant +2 more)	ATXN2-related disorder	GBenign
Select item 3043122	NM_001372574.1(ATXN2):c.42_58del (p.Gln15fs)	ATXN2, LOC130008791 (Q15fs)	Deletion (frameshift variant +2 more)	ATXN2-related disorder	GLikely benign
Select item 3039293	NM_001372574.1(ATXN2):c.2097G>A (p.Pro699=)	ATXN2	Single nucleotide variant (synonymous variant +1 more)	ATXN2-related disorder	GLikely benign
Select item 3039238	NM_001372574.1(ATXN2):c.36_40del (p.Gln13fs)	ATXN2 (Q13fs)	Deletion (frameshift variant +2 more)	ATXN2-related disorder	GLikely benign
Select item 2643330	NM_002973.3(ATXN2):c.165T>C (p.Pro55=)	ATXN2, LOC130008792	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2643329	NM_001372574.1(ATXN2):c.33G>A (p.Gln11=)	ATXN2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2643328	NM_001372574.1(ATXN2):c.48G>A (p.Gln16=)	ATXN2, LOC130008791	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2643327	NM_001372574.1(ATXN2):c.54G>A (p.Gln18=)	ATXN2, LOC130008791	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2643326	NM_001372574.1(ATXN2):c.57_62del (p.Gln27_Gln28del)	ATXN2, LOC130008791	Deletion (inframe_deletion +2 more)	not provided	GLikely benign
Select item 2643325	NM_001372574.1(ATXN2):c.66G>A (p.Gln22=)	ATXN2, LOC130008791	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2643324	NM_001372574.1(ATXN2):c.57_68del (p.Gln25_Gln28del)	ATXN2, LOC130008791	Deletion (inframe_deletion +2 more)	not provided	GLikely benign
Select item 2643323	NM_001372574.1(ATXN2):c.71_72insACAGCAGCAGCA (p.Gln28_Pro29insGlnGlnGlnGln)	ATXN2, LOC130008791	Microsatellite (inframe_insertion +2 more)	not provided	GBenign
Select item 2643322	NM_001372574.1(ATXN2):c.56_85del (p.Gln19_Gln28del)	ATXN2, LOC130008791	Deletion (inframe_deletion +2 more)	not provided	GLikely benign
Select item 2643321	NM_001372574.1(ATXN2):c.84GCC[4] (p.Pro31_Ala32insPro)	ATXN2, LOC130008791	Microsatellite (inframe_insertion +2 more)	not provided	GBenign
Select item 2643320	NM_001372574.1(ATXN2):c.1027G>C (p.Val343Leu)	ATXN2 (V214L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2643319	NM_001372574.1(ATXN2):c.2848C>T (p.Pro950Ser)	ATXN2 (P843S +2 more)	Single nucleotide variant (missense variant +2 more)	ATXN2-related disorder +1 more	GLikely benign
Select item 2643318	NM_001372574.1(ATXN2):c.2849C>T (p.Pro950Leu)	ATXN2 (P843L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2643317	NM_001372574.1(ATXN2):c.3234G>A (p.Ala1078=)	ATXN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2588391	NM_001372574.1(ATXN2):c.1958A>G (p.Glu653Gly)	ATXN2 (E548G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549027	NM_001372574.1(ATXN2):c.388T>C (p.Tyr130His)	ATXN2 (Y25H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2517369	NM_001372574.1(ATXN2):c.2144A>G (p.Lys715Arg)	ATXN2 (K586R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512765	NM_001372574.1(ATXN2):c.3242A>G (p.Asn1081Ser)	ATXN2 (N974S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507436	NM_001372574.1(ATXN2):c.257G>A (p.Arg86Gln)	ATXN2 (R86Q)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2491706	NM_001372574.1(ATXN2):c.2536C>T (p.Pro846Ser)	ATXN2 (P715S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490370	NM_001372574.1(ATXN2):c.1151G>A (p.Arg384Lys)	ATXN2 (R255K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489312	NM_001372574.1(ATXN2):c.-107C>T	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2488182	NM_001372574.1(ATXN2):c.653A>C (p.Glu218Ala)	ATXN2 (E89A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480324	NM_001372574.1(ATXN2):c.3230C>T (p.Pro1077Leu)	ATXN2 (P1075L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478855	NM_001372574.1(ATXN2):c.1745C>T (p.Pro582Leu)	ATXN2 (P477L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475174	NM_002973.3(ATXN2):c.169C>A (p.Pro57Thr)	ATXN2, LOC130008792 (P57T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467965	NM_001372574.1(ATXN2):c.1112A>T (p.His371Leu)	ATXN2 (H266L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464546	NM_001372574.1(ATXN2):c.3187G>C (p.Ala1063Pro)	ATXN2 (A1063P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2439421	NM_001372574.1(ATXN2):c.1648C>G (p.Pro550Ala)	ATXN2 (P421A +2 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 2	GUncertain significance
Select item 2408935	NM_002973.3(ATXN2):c.136G>C (p.Ala46Pro)	ATXN2 (A46P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399465	NM_001372574.1(ATXN2):c.2938G>A (p.Ala980Thr)	ATXN2 (A831T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391803	NM_002973.3(ATXN2):c.152C>T (p.Pro51Leu)	ATXN2 (P51L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368184	NM_001372574.1(ATXN2):c.1847C>T (p.Ser616Leu)	ATXN2 (S487L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367612	NM_001372574.1(ATXN2):c.77A>C (p.Gln26Pro)	ATXN2, LOC130008791 (Q26P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2357225	NM_001372574.1(ATXN2):c.-25C>G	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2357135	NM_001372574.1(ATXN2):c.1625C>A (p.Pro542His)	ATXN2 (P413H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355943	NM_002973.3(ATXN2):c.139C>A (p.Pro47Thr)	ATXN2 (P47T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350018	NM_001372574.1(ATXN2):c.54G>C (p.Gln18His)	ATXN2, LOC130008791 (Q18H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2347867	NM_001372574.1(ATXN2):c.179C>T (p.Ser60Phe)	ATXN2, LOC130008791 (S60F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2346992	NM_001372574.1(ATXN2):c.-183C>T	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2345825	NM_001372574.1(ATXN2):c.1744C>G (p.Pro582Ala)	ATXN2 (P453A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344137	NM_001372574.1(ATXN2):c.-141C>T	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2324450	NM_002973.3(ATXN2):c.187C>A (p.Pro63Thr)	ATXN2, LOC130008792 (P63T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313683	NM_001372574.1(ATXN2):c.3141G>A (p.Met1047Ile)	ATXN2 (M898I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313581	NM_001372574.1(ATXN2):c.1690A>G (p.Ile564Val)	ATXN2 (I564V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2306983	NM_001372574.1(ATXN2):c.2314T>C (p.Ser772Pro)	ATXN2 (S667P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295432	NM_001372574.1(ATXN2):c.442G>A (p.Ala148Thr)	ATXN2 (A148T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286431	NM_001372574.1(ATXN2):c.2111T>C (p.Ile704Thr)	ATXN2 (I575T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286216	NM_002973.3(ATXN2):c.110G>A (p.Arg37Gln)	ATXN2 (R37Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274379	NM_002973.3(ATXN2):c.185C>G (p.Pro62Arg)	ATXN2, LOC130008792 (P62R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274378	NM_002973.3(ATXN2):c.184C>T (p.Pro62Ser)	ATXN2, LOC130008792 (P62S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257641	NM_001372574.1(ATXN2):c.2931C>A (p.His977Gln)	ATXN2 (H828Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252776	NM_001372574.1(ATXN2):c.1706C>T (p.Pro569Leu)	ATXN2 (P464L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250492	NM_002973.3(ATXN2):c.104C>G (p.Ala35Gly)	ATXN2 (A35G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245162	NM_001372574.1(ATXN2):c.537G>T (p.Gln179His)	ATXN2 (Q179H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241316	NM_002973.3(ATXN2):c.109C>G (p.Arg37Gly)	ATXN2 (R37G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234123	NM_001372574.1(ATXN2):c.-74C>T	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2229469	NM_002973.3(ATXN2):c.131G>C (p.Gly44Ala)	ATXN2 (G44A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227501	NM_002973.3(ATXN2):c.178C>T (p.Pro60Ser)	ATXN2, LOC130008792 (P60S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226441	NM_002973.3(ATXN2):c.112A>G (p.Ser38Gly)	ATXN2 (S38G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222408	NM_002973.3(ATXN2):c.106C>G (p.Arg36Gly)	ATXN2 (R36G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210494	NM_001372574.1(ATXN2):c.2990G>T (p.Gly997Val)	ATXN2 (G848V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1679808	NM_001372574.1(ATXN2):c.1526C>T (p.Ser509Leu)	ATXN2 (S380L +2 more)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GLikely pathogenic, low penetrance
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 1317079	NM_001372574.1(ATXN2):c.-89C>T	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1298295	NM_001372574.1(ATXN2):c.494T>C (p.Met165Thr)	ATXN2 (M165T +2 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 2	GUncertain significance
Select item 1048831	NM_001372574.1(ATXN2):c.992A>G (p.Asn331Ser)	ATXN2 (N202S +2 more)	Single nucleotide variant (missense variant +1 more)	ATXN2-related disorder	GLikely benign
Select item 981016	NM_001372574.1(ATXN2):c.2470A>C (p.Ile824Leu)	ATXN2 (I695L +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance

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