"GeneDx"[submitter] AND "LOC130001681"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 534261	NM_005866.4(SIGMAR1):c.92G>A (p.Gly31Asp)	LOC130001681, SIGMAR1 (G31D)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2 +3 more	GUncertain significance
Select item 465872	NM_005866.4(SIGMAR1):c.6G>A (p.Gln2=)	LOC130001681, SIGMAR1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive distal spinal muscular atrophy 2 +4 more	GBenign/Likely benign
Select item 586584	NM_005866.4(SIGMAR1):c.5A>C (p.Gln2Pro)	LOC130001681, SIGMAR1 (Q2P)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive distal spinal muscular atrophy 2 +2 more	GBenign
Select item 1254377	NC_000009.12:g.34637897A>C	LOC130001681, SIGMAR1	Single nucleotide variant	not provided	GLikely benign
Select item 1271335	NC_000009.12:g.34637993G>A	LOC130001681, SIGMAR1	Single nucleotide variant	not provided	GBenign
Select item 1253182	NC_000009.12:g.34637994C>A	LOC130001681, SIGMAR1	Single nucleotide variant	not provided	GBenign

ClinVar