"Ambry Genetics"[submitter] AND "LOC129992120"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2618785	NM_002337.4(LRPAP1):c.182A>G (p.Gln61Arg)	LOC129992120, LRPAP1 (Q61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291464	NM_002337.4(LRPAP1):c.164G>C (p.Arg55Pro)	LOC129992120, LRPAP1 (R55P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317494	NM_002337.4(LRPAP1):c.163C>T (p.Arg55Cys)	LOC129992120, LRPAP1 (R55C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120345	NM_002337.4(LRPAP1):c.161T>A (p.Phe54Tyr)	LOC129992120, LRPAP1 (F54Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291465	NM_002337.4(LRPAP1):c.152G>A (p.Gly51Glu)	LOC129992120, LRPAP1 (G51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599036	NM_002337.4(LRPAP1):c.147G>C (p.Glu49Asp)	LOC129992120, LRPAP1 (E49D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251269	NM_002337.4(LRPAP1):c.38T>C (p.Leu13Pro)	LOC129992120, LRPAP1 (L13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477342	NM_002337.4(LRPAP1):c.26T>G (p.Phe9Cys)	LOC129992120, LRPAP1 (F9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347768	NM_002337.4(LRPAP1):c.11G>C (p.Arg4Pro)	LOC129992120, LRPAP1 (R4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120349	NM_002337.4(LRPAP1):c.5C>T (p.Ala2Val)	LOC129992120, LRPAP1 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120348	NM_002337.4(LRPAP1):c.5C>G (p.Ala2Gly)	LOC129992120, LRPAP1 (A2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance