"Ambry Genetics"[submitter] AND "LOC130067565"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318301	NM_001207020.3(SHISA8):c.380C>T (p.Thr127Ile)	LOC130067565, SHISA8 (T127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318302	NM_001207020.3(SHISA8):c.373C>T (p.Arg125Cys)	LOC130067565, SHISA8 (R125C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161742	NM_001207020.3(SHISA8):c.361C>G (p.Pro121Ala)	LOC130067565, SHISA8 (P121A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161740	NM_001207020.3(SHISA8):c.337G>A (p.Ala113Thr)	LOC130067565, SHISA8 (A113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597543	NM_001207020.3(SHISA8):c.328G>T (p.Asp110Tyr)	LOC130067565, SHISA8 (D110Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311202	NM_001207020.3(SHISA8):c.302T>C (p.Leu101Pro)	LOC130067565, SHISA8 (L101P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar