Related gene-specific medical variations for Gene (Select 255027) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 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 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 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 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 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 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 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 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 2213080	NM_001128423.2(MPV17L):c.240C>A (p.His80Gln)	MPV17L, MPV17L-BMERB1 (H80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 29