Related gene-specific medical variations for Gene (Select 100131211) - ClinVar

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

Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294562	NM_017694.4(MFSD6):c.2332G>A (p.Glu778Lys)	MFSD6, NEMP2 (E240K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294561	NM_017694.4(MFSD6):c.1034G>C (p.Gly345Ala)	MFSD6, NEMP2 (G345A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294560	NM_017694.4(MFSD6):c.2299C>G (p.Pro767Ala)	MFSD6, NEMP2 (P229A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294559	NM_017694.4(MFSD6):c.1174C>T (p.Arg392Cys)	MFSD6, NEMP2 (R392C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125816	NM_017694.4(MFSD6):c.253C>T (p.Leu85Phe)	MFSD6, NEMP2 (L85F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125815	NM_017694.4(MFSD6):c.2305C>A (p.His769Asn)	MFSD6, NEMP2 (H769N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125814	NM_017694.4(MFSD6):c.2299C>T (p.Pro767Ser)	MFSD6, NEMP2 (P229S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125813	NM_017694.4(MFSD6):c.2216A>G (p.Gln739Arg)	MFSD6, NEMP2 (Q201R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3125812	NM_017694.4(MFSD6):c.2068G>A (p.Val690Ile)	MFSD6, NEMP2 (V152I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125810	NM_017694.4(MFSD6):c.1823T>C (p.Met608Thr)	MFSD6, NEMP2 (M608T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125809	NM_017694.4(MFSD6):c.1690C>G (p.Pro564Ala)	MFSD6, NEMP2 (P26A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125808	NM_017694.4(MFSD6):c.1208G>C (p.Gly403Ala)	MFSD6, NEMP2 (G403A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616742	NM_017694.4(MFSD6):c.1994T>C (p.Ile665Thr)	MFSD6, NEMP2 (I665T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615635	NM_017694.4(MFSD6):c.1439C>T (p.Thr480Ile)	MFSD6, NEMP2 (T480I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605728	NM_017694.4(MFSD6):c.2012C>T (p.Pro671Leu)	MFSD6, NEMP2 (P671L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602368	NM_017694.4(MFSD6):c.1216G>T (p.Val406Leu)	MFSD6, NEMP2 (V406L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553365	NM_017694.4(MFSD6):c.85A>G (p.Ile29Val)	MFSD6, NEMP2 (I29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552490	NM_017694.4(MFSD6):c.1106A>G (p.Gln369Arg)	MFSD6, NEMP2 (Q369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538988	NM_001142645.2(NEMP2):c.88G>C (p.Ala30Pro)	LOC129935255, NEMP2 (A30P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524137	NM_017694.4(MFSD6):c.1226C>T (p.Pro409Leu)	MFSD6, NEMP2 (P409L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471692	NM_017694.4(MFSD6):c.2236C>A (p.His746Asn)	MFSD6, NEMP2 (H208N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466418	NM_017694.4(MFSD6):c.487A>G (p.Ile163Val)	MFSD6, NEMP2 (I163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463463	NM_017694.4(MFSD6):c.275A>G (p.Tyr92Cys)	MFSD6, NEMP2 (Y92C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460200	NM_017694.4(MFSD6):c.1289C>T (p.Ser430Leu)	MFSD6, NEMP2 (S430L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458163	NM_017694.4(MFSD6):c.1241A>G (p.Asn414Ser)	MFSD6, NEMP2 (N414S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406906	NM_017694.4(MFSD6):c.1129G>A (p.Val377Ile)	MFSD6, NEMP2 (V377I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405757	NM_017694.4(MFSD6):c.794C>T (p.Thr265Ile)	MFSD6, NEMP2 (T265I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388549	NM_017694.4(MFSD6):c.822A>C (p.Gln274His)	MFSD6, NEMP2 (Q274H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376636	NM_001142645.2(NEMP2):c.77C>T (p.Ala26Val)	LOC129935255, NEMP2 (A26V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376625	NM_017694.4(MFSD6):c.2302G>A (p.Ala768Thr)	MFSD6, NEMP2 (A230T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365640	NM_017694.4(MFSD6):c.1033G>A (p.Gly345Arg)	MFSD6, NEMP2 (G345R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354583	NM_017694.4(MFSD6):c.2312G>T (p.Ser771Ile)	MFSD6, NEMP2 (S233I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353195	NM_017694.4(MFSD6):c.817G>T (p.Asp273Tyr)	MFSD6, NEMP2 (D273Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342154	NM_017694.4(MFSD6):c.329G>A (p.Arg110His)	MFSD6, NEMP2 (R110H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329553	NM_017694.4(MFSD6):c.2350G>C (p.Ala784Pro)	MFSD6, NEMP2 (A246P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310468	NM_017694.4(MFSD6):c.922A>G (p.Ile308Val)	MFSD6, NEMP2 (I308V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299307	NM_017694.4(MFSD6):c.767C>T (p.Thr256Ile)	MFSD6, NEMP2 (T256I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289861	NM_017694.4(MFSD6):c.1283G>T (p.Ser428Ile)	MFSD6, NEMP2 (S428I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265132	NM_017694.4(MFSD6):c.586C>T (p.Arg196Cys)	MFSD6, NEMP2 (R196C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259884	NM_017694.4(MFSD6):c.1261G>C (p.Glu421Gln)	MFSD6, NEMP2 (E421Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245058	NM_017694.4(MFSD6):c.1175G>A (p.Arg392His)	MFSD6, NEMP2 (R392H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241549	NM_017694.4(MFSD6):c.904A>T (p.Ser302Cys)	MFSD6, NEMP2 (S302C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240673	NM_017694.4(MFSD6):c.1607T>G (p.Val536Gly)	MFSD6, NEMP2 (V536G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235697	NM_017694.4(MFSD6):c.733A>T (p.Ser245Cys)	MFSD6, NEMP2 (S245C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211107	NM_001142645.2(NEMP2):c.73G>A (p.Glu25Lys)	LOC129935255, NEMP2 (E25K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788961	NM_017694.4(MFSD6):c.945G>A (p.Gln315=)	MFSD6, NEMP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780857	NM_017694.4(MFSD6):c.161T>C (p.Ile54Thr)	MFSD6, NEMP2 (I54T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777960	NM_017694.4(MFSD6):c.885C>T (p.Val295=)	MFSD6, NEMP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 772854	NM_017694.4(MFSD6):c.198C>T (p.Asn66=)	MFSD6, NEMP2	Single nucleotide variant (synonymous variant)	not provided	GBenign

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: 49