Related gene-specific medical variations for Gene (Select 6311) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3045503	NM_001372574.1(ATXN2):c.60del (p.Gln20fs)	ATXN2, LOC130008791 (Q20fs)	Deletion (frameshift variant +2 more)	ATXN2-related disorder	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 929859	NM_002973.4(ATXN2):c.16CAG[22_31] (p.6Gln[22_31])	ATXN2	Microsatellite	Spinocerebellar ataxia type 2	Gnot provided
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 806945	NM_001372574.1(ATXN2):c.3348C>T (p.Pro1116=)	ATXN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 802894	NM_001372574.1(ATXN2):c.-266C>T	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR variant +2 more)	Spinocerebellar ataxia type 2	GUncertain significance
Select item 522972	NM_001372574.1(ATXN2):c.176_190del (p.Val59_Ser63del)	ATXN2, LOC130008791	Deletion (inframe_deletion +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 522370	NM_001372574.1(ATXN2):c.57A>G (p.Gln19=)	ATXN2, LOC130008791	Single nucleotide variant (synonymous variant +2 more)	Spinocerebellar ataxia type 2 +1 more	GBenign/Likely 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 218618	NM_001372574.1(ATXN2):c.-176G>C	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GBenign
Select item 128508	NM_001372574.1(ATXN2):c.-91C>T	LOC130008792, ATXN2	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 128507	NM_001372574.1(ATXN2):c.-162C>G	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 8114	NM_002973.4(ATXN2):c.16CAG[27_33] (p.6Gln[27_33])	ATXN2	Microsatellite	Amyotrophic lateral sclerosis, susceptibility to, 13	Grisk factor

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Items: 45