"GeneDx"[submitter] AND "LOC126859651"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340363	NM_006295.3(VARS1):c.871+1G>C	LOC126859651, VARS1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1305253	NM_006295.3(VARS1):c.859G>A (p.Gly287Arg)	LOC126859651, VARS1 (G287R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2571706	NM_006295.3(VARS1):c.638C>T (p.Ala213Val)	LOC126859651, VARS1 (A213V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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