ClinVar for MedGen (Select 155704) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 522367	NM_001372574.1(ATXN2):c.289-11del	ATXN2	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 522366	NM_001372574.1(ATXN2):c.289-11dup	ATXN2	Duplication (intron variant)	not specified +1 more	GBenign
Select item 522365	NM_001372574.1(ATXN2):c.3043-12G>A	ATXN2	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 2 +1 more	GBenign/Likely benign
Select item 128509	NM_001372574.1(ATXN2):c.42G>A (p.Gln14=)	ATXN2	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign/Likely benign
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