"Ambry Genetics"[submitter] AND "LOC130007282"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2410872	NM_032641.4(SPSB2):c.263T>A (p.Leu88Gln)	LOC130007282, SPSB2 (L88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322393	NM_032641.4(SPSB2):c.260G>T (p.Gly87Val)	LOC130007282, SPSB2 (G87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169436	NM_032641.4(SPSB2):c.235C>T (p.Arg79Trp)	LOC130007282, SPSB2 (R79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264016	NM_032641.4(SPSB2):c.228T>G (p.Asp76Glu)	LOC130007282, SPSB2 (D76E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322390	NM_032641.4(SPSB2):c.158G>A (p.Cys53Tyr)	LOC130007282, SPSB2 (C53Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555084	NM_032641.4(SPSB2):c.151A>G (p.Lys51Glu)	LOC130007282, SPSB2 (K51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360511	NM_032641.4(SPSB2):c.139G>A (p.Gly47Ser)	LOC130007282, SPSB2 (G47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232807	NM_032641.4(SPSB2):c.121G>T (p.Gly41Trp)	LOC130007282, SPSB2 (G41W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409423	NM_032641.4(SPSB2):c.112C>T (p.Pro38Ser)	LOC130007282, SPSB2 (P38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance