"Clinical Genetics, Academic Medical Center"[submitter] AND "ATXN7"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1328067	NM_001377405.1(ATXN7):c.89AGC[9] (p.Gln39del)	ATXN7, LOC108660406 +1 more (Q39del)	Microsatellite (inframe_deletion)	not specified	GBenign
Select item 1284420	NM_001377405.1(ATXN7):c.273G>C (p.Leu91=)	ATXN7, LOC129936979	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1284798	NM_001377405.1(ATXN7):c.1012+13T>A	ATXN7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1284747	NM_001377405.1(ATXN7):c.1613C>G (p.Ser538Cys)	ATXN7 (S393C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1284291	NM_001377405.1(ATXN7):c.2170T>A (p.Ser724Thr)	ATXN7 (S579T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1284842	NM_001377405.1(ATXN7):c.2479A>G (p.Thr827Ala)	ATXN7 (T682A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign

ClinVar