"Ambry Genetics"[submitter] AND "ATXN7L3"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2589927	NM_001382309.1(ATXN7L3):c.1016C>T (p.Thr339Met)	ATXN7L3 (T339M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481846	NM_001382309.1(ATXN7L3):c.981C>G (p.Asn327Lys)	ATXN7L3 (N334K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601831	NM_001382309.1(ATXN7L3):c.967G>A (p.Gly323Ser)	ATXN7L3 (G323S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2508474	NM_001382309.1(ATXN7L3):c.947G>A (p.Ser316Asn)	ATXN7L3 (S323N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320247	NM_001382309.1(ATXN7L3):c.812G>A (p.Arg271Gln)	ATXN7L3 (R271Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132323	NM_001382309.1(ATXN7L3):c.727G>A (p.Gly243Arg)	ATXN7L3 (G262R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379561	NM_001382309.1(ATXN7L3):c.593C>T (p.Pro198Leu)	ATXN7L3 (P205L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327764	NM_001382309.1(ATXN7L3):c.565A>G (p.Thr189Ala)	ATXN7L3 (T208A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309526	NM_001382309.1(ATXN7L3):c.455C>T (p.Ala152Val)	ATXN7L3 (A152V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333456	NM_001382309.1(ATXN7L3):c.365A>G (p.Asn122Ser)	ATXN7L3 (N122S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398649	NM_001382309.1(ATXN7L3):c.350A>G (p.Asn117Ser)	ATXN7L3 (N124S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333466	NM_001382309.1(ATXN7L3):c.57C>G (p.Ile19Met)	ATXN7L3 (I19M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559224	NM_001382309.1(ATXN7L3):c.53C>G (p.Ala18Gly)	ATXN7L3 (A25G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132322	NM_001382309.1(ATXN7L3):c.45A>T (p.Lys15Asn)	ATXN7L3, LOC112533641 (K15N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance