"Ambry Genetics"[submitter] AND "LOC130003509"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2287808	NM_012228.4(MSRB2):c.14T>G (p.Leu5Arg)	LOC130003509, MSRB2 (L24R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278568	NM_012228.4(MSRB2):c.55C>T (p.Arg19Trp)	LOC130003509, MSRB2 (R19W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520747	NM_012228.4(MSRB2):c.61G>A (p.Val21Met)	LOC130003509, MSRB2 (V40M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508657	NM_012228.4(MSRB2):c.74C>A (p.Ala25Glu)	LOC130003509, MSRB2 (A25E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233150	NM_012228.4(MSRB2):c.92G>C (p.Gly31Ala)	LOC130003509, MSRB2 (G31A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363940	NM_012228.4(MSRB2):c.94A>C (p.Thr32Pro)	LOC130003509, MSRB2 (T32P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226806	NM_012228.4(MSRB2):c.113A>G (p.Glu38Gly)	LOC130003509, MSRB2 (E38G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar