Related gene-specific medical variations for Gene (Select 9147) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2644214	NM_004713.6(NEMF):c.3195G>T (p.Val1065=)	KLHDC2, NEMF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2560123	NM_004713.6(NEMF):c.3101T>C (p.Met1034Thr)	KLHDC2, NEMF (M1034T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547555	NM_014315.3(KLHDC2):c.1147T>C (p.Trp383Arg)	NEMF, KLHDC2 (W383R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529277	NM_004713.6(NEMF):c.2987C>T (p.Ala996Val)	KLHDC2, NEMF (A975V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2432191	NM_004713.6(NEMF):c.2943_2950del (p.Ser982fs)	KLHDC2, NEMF (S961fs +1 more)	Deletion (3 prime UTR variant +1 more)	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	GLikely pathogenic
Select item 2375362	NM_004713.6(NEMF):c.3161A>G (p.Asp1054Gly)	KLHDC2, NEMF (D1033G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362976	NM_014315.3(KLHDC2):c.1096C>T (p.Arg366Trp)	NEMF, KLHDC2 (R366W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341262	NM_014315.3(KLHDC2):c.982G>A (p.Asp328Asn)	KLHDC2, NEMF (D328N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328157	NM_004713.6(NEMF):c.3119C>T (p.Thr1040Ile)	KLHDC2, NEMF (T1019I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289211	NM_004713.6(NEMF):c.3103C>T (p.His1035Tyr)	KLHDC2, NEMF (H1014Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289129	NM_004713.6(NEMF):c.3102G>A (p.Met1034Ile)	KLHDC2, NEMF (M1034I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255084	NM_014315.3(KLHDC2):c.1152C>A (p.Asn384Lys)	NEMF, KLHDC2 (N384K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1696457	NM_004713.6(NEMF):c.1744+6A>G	NEMF	Single nucleotide variant (intron variant)	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	GUncertain significance
Select item 1319076	NM_004713.6(NEMF):c.2068del (p.Leu690fs)	NEMF (L669fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 779679	NM_004713.6(NEMF):c.3126A>G (p.Arg1042=)	KLHDC2, NEMF	Single nucleotide variant (3 prime UTR variant +1 more)	NEMF-related condition +1 more	GBenign