"Ambry Genetics"[submitter] AND "MPV17L"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2318568	NM_001128423.2(MPV17L):c.10T>C (p.Trp4Arg)	MPV17L, MPV17L-BMERB1 (W4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246295	NM_001128423.2(MPV17L):c.17C>A (p.Pro6Gln)	MPV17L, MPV17L-BMERB1 (P6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255970	NM_001128423.2(MPV17L):c.56C>A (p.Thr19Asn)	MPV17L, MPV17L-BMERB1 (T19N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321655	NM_001128423.2(MPV17L):c.77C>G (p.Ser26Trp)	MPV17L, MPV17L-BMERB1 (S26W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222130	NM_001128423.2(MPV17L):c.89C>T (p.Ala30Val)	MPV17L, MPV17L-BMERB1 (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554254	NM_001128423.2(MPV17L):c.91G>C (p.Gly31Arg)	MPV17L, MPV17L-BMERB1 (G31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610768	NM_001128423.2(MPV17L):c.121C>G (p.Arg41Gly)	MPV17L, MPV17L-BMERB1 (R41G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3295763	NM_001128423.2(MPV17L):c.142A>G (p.Thr48Ala)	MPV17L, MPV17L-BMERB1 (T48A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288172	NM_001128423.2(MPV17L):c.146G>C (p.Arg49Pro)	MPV17L, MPV17L-BMERB1 (R49P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519953	NM_001128423.2(MPV17L):c.148C>T (p.Arg50Cys)	MPV17L, MPV17L-BMERB1 (R50C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263912	NM_001128423.2(MPV17L):c.182A>C (p.Asn61Thr)	MPV17L, MPV17L-BMERB1 (N61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339102	NM_001128423.2(MPV17L):c.236C>G (p.Pro79Arg)	MPV17L, MPV17L-BMERB1 (P79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213080	NM_001128423.2(MPV17L):c.240C>A (p.His80Gln)	MPV17L, MPV17L-BMERB1 (H80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295765	NM_001128423.2(MPV17L):c.267C>A (p.Asp89Glu)	MPV17L, MPV17L-BMERB1 (D89E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295760	NM_001128423.2(MPV17L):c.271G>T (p.Val91Leu)	MPV17L, MPV17L-BMERB1 (V91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203525	NM_001128423.2(MPV17L):c.307G>A (p.Val103Ile)	MPV17L, MPV17L-BMERB1 (V103I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397852	NM_001128423.2(MPV17L):c.323T>C (p.Leu108Pro)	MPV17L, MPV17L-BMERB1 (L108P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615883	NM_001128423.2(MPV17L):c.329G>A (p.Gly110Glu)	MPV17L, MPV17L-BMERB1 (G110E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2546169	NM_001128423.2(MPV17L):c.365T>C (p.Phe122Ser)	MPV17L, MPV17L-BMERB1 (F122S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361099	NM_001128423.2(MPV17L):c.374C>G (p.Thr125Ser)	MPV17L, MPV17L-BMERB1 (T125S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402300	NM_001128423.2(MPV17L):c.382A>G (p.Ser128Gly)	MPV17L, MPV17L-BMERB1 (S128G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203542	NM_001128423.2(MPV17L):c.389T>C (p.Leu130Pro)	MPV17L, MPV17L-BMERB1 (L130P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3295762	NM_001128423.2(MPV17L):c.392T>G (p.Met131Arg)	MPV17L, MPV17L-BMERB1 (D107E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295761	NM_001128423.2(MPV17L):c.394T>C (p.Tyr132His)	MPV17L, MPV17L-BMERB1 (Y132H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298121	NM_001128423.2(MPV17L):c.434C>A (p.Pro145His)	MPV17L, MPV17L-BMERB1 (P145H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3203550	NM_001128423.2(MPV17L):c.547T>C (p.Tyr183His)	MPV17L, MPV17L-BMERB1 (Y183H)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2483041	NM_001128423.2(MPV17L):c.548A>G (p.Tyr183Cys)	MPV17L, MPV17L-BMERB1 (Y183C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3295764	NM_001128423.2(MPV17L):c.559A>G (p.Thr187Ala)	MPV17L, MPV17L-BMERB1 (T187A)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2350068	NM_001128423.2(MPV17L):c.581C>T (p.Pro194Leu)	MPV17L, MPV17L-BMERB1 (P194L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 29