"Ambry Genetics"[submitter] AND "LOC130008792"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 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 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 3333063	NM_001372574.1(ATXN2):c.-147G>C	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR 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 3333032	NM_001372574.1(ATXN2):c.-260C>T	ATXN2, LOC130008792	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
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 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 3333090	NM_002973.3(ATXN2):c.175G>T (p.Gly59Cys)	ATXN2, LOC130008792 (G59C)	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