6311[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 3333053	NM_001372574.1(ATXN2):c.3367C>A (p.Leu1123Ile)	ATXN2 (L1121I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 806945	NM_001372574.1(ATXN2):c.3348C>T (p.Pro1116=)	ATXN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 930944	NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val)	ATXN2 (M1108V +3 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 2	GBenign
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 2643317	NM_001372574.1(ATXN2):c.3234G>A (p.Ala1078=)	ATXN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 522365	NM_001372574.1(ATXN2):c.3043-12G>A	ATXN2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 2643319	NM_001372574.1(ATXN2):c.2848C>T (p.Pro950Ser)	ATXN2 (P843S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3333084	NM_001372574.1(ATXN2):c.2746G>C (p.Ala916Pro)	ATXN2 (A914P +3 more)	Single nucleotide variant (missense variant +1 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 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 210509	NM_001372574.1(ATXN2):c.2526A>G (p.Val842=)	ATXN2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3044160	NM_001372574.1(ATXN2):c.2525-7del	ATXN2	Deletion (intron variant)	ATXN2-related disorder	GBenign
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
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 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 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 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 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 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 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 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 3333118	NM_001372574.1(ATXN2):c.1922A>G (p.Lys641Arg)	ATXN2 (K536R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 930922	NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln)	ATXN2 (K512Q +2 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 2	GUncertain significance
Select item 382319	NM_001372574.1(ATXN2):c.1856A>T (p.Glu619Val)	ATXN2 (E514V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 1048831	NM_001372574.1(ATXN2):c.992A>G (p.Asn331Ser)	ATXN2 (N202S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
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 210508	NM_001372574.1(ATXN2):c.940G>A (p.Val314Ile)	ATXN2 (V185I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050481	NM_001372574.1(ATXN2):c.789-8T>C	ATXN2	Single nucleotide variant (intron variant)	ATXN2-related disorder	GLikely benign
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 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 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 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 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 3333107	NM_001372574.1(ATXN2):c.470C>T (p.Ser157Leu)	ATXN2 (S157L +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 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 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 522366	NM_001372574.1(ATXN2):c.289-11dup	ATXN2	Duplication (intron variant)	not specified +1 more	GBenign
Select item 522367	NM_001372574.1(ATXN2):c.289-11del	ATXN2	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 3332999	NM_001372574.1(ATXN2):c.287C>T (p.Thr96Met)	ATXN2 (T96M)	Single nucleotide variant (5 prime UTR variant +3 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 522972	NM_001372574.1(ATXN2):c.176_190del (p.Val59_Ser63del)	ATXN2, LOC130008791	Deletion (inframe_deletion +2 more)	GM3 synthase deficiency +1 more	GConflicting classifications of pathogenicity
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 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 3333021	NM_001372574.1(ATXN2):c.164C>T (p.Ser55Phe)	ATXN2, LOC130008791 (S55F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3333009	NM_001372574.1(ATXN2):c.116C>G (p.Pro39Arg)	ATXN2, LOC130008791 (P39R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 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 2643322	NM_001372574.1(ATXN2):c.56_85del (p.Gln19_Gln28del)	ATXN2, LOC130008791	Deletion (inframe_deletion +2 more)	not provided	GLikely benign
Select item 522368	NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del)	ATXN2, LOC130008791 (Q28del)	Microsatellite (inframe_deletion +2 more)	Spinocerebellar ataxia type 2	GBenign
Select item 929858	NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?])	LOC130008791, ATXN2 +1 more	Microsatellite	Parkinson disease, late-onset +1 more	GPathogenic; risk factor
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 2643323	NM_001372574.1(ATXN2):c.71_72insACAGCAGCAGCA (p.Gln28_Pro29insGlnGlnGlnGln)	ATXN2, LOC130008791	Microsatellite (inframe_insertion +2 more)	not provided	GBenign
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 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 2643326	NM_001372574.1(ATXN2):c.57_62del (p.Gln27_Gln28del)	ATXN2, LOC130008791	Deletion (inframe_deletion +2 more)	not provided	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 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 3238749	NM_001372574.1(ATXN2):c.18GCA[43] (p.Gln28_Pro29insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	ATXN2, LOC130008791	Microsatellite (inframe_insertion +2 more)	Spinocerebellar ataxia type 2	GPathogenic
Select item 976652	NM_001372574.1(ATXN2):c.18GCA[28] (p.Gln14_Gln28dup)	ATXN2, LOC130008791	Microsatellite (inframe_insertion +2 more)	Amyotrophic lateral sclerosis	Grisk factor
Select item 522370	NM_001372574.1(ATXN2):c.57A>G (p.Gln19=)	ATXN2, LOC130008791	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 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 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 3055440	NM_001372574.1(ATXN2):c.42del (p.Gln14fs)	ATXN2 (Q14fs)	Deletion (frameshift variant +2 more)	ATXN2-related disorder	GLikely benign
Select item 128509	NM_001372574.1(ATXN2):c.42G>A (p.Gln14=)	ATXN2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 2643329	NM_001372574.1(ATXN2):c.33G>A (p.Gln11=)	ATXN2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 806946	NM_001372574.1(ATXN2):c.30G>A (p.Gln10=)	ATXN2	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 3333074	NM_001372574.1(ATXN2):c.13C>T (p.Pro5Ser)	ATXN2 (P5S)	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 2234123	NM_001372574.1(ATXN2):c.-74C>T	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance

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