Related gene-specific medical variations for Gene (Select 29078) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370076	NM_014165.4(NDUFAF4):c.55G>A (p.Glu19Lys)	NDUFAF4, LOC129996857 (E19K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360162	NM_014165.4(NDUFAF4):c.145del (p.Glu49fs)	NDUFAF4 (E49fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2291071	NM_014165.4(NDUFAF4):c.74T>C (p.Met25Thr)	LOC129996857, NDUFAF4 (M25T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184290	NM_014165.4(NDUFAF4):c.62A>T (p.Glu21Val)	LOC129996857, NDUFAF4 (E21V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1978068	NM_014165.4(NDUFAF4):c.51A>C (p.Arg17=)	LOC129996857, NDUFAF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974466	NM_014165.4(NDUFAF4):c.9A>G (p.Ala3=)	LOC129996857, NDUFAF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969958	NM_014165.4(NDUFAF4):c.12A>G (p.Leu4=)	LOC129996857, NDUFAF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945257	NM_014165.4(NDUFAF4):c.27C>A (p.Ile9=)	LOC129996857, NDUFAF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1508922	NM_014165.4(NDUFAF4):c.88G>T (p.Ala30Ser)	LOC129996857, NDUFAF4 (A30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461290	NM_014165.4(NDUFAF4):c.59G>A (p.Arg20Gln)	LOC129996857, NDUFAF4 (R20Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029250	NM_014165.4(NDUFAF4):c.83C>G (p.Ser28Cys)	LOC129996857, NDUFAF4 (S28C)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 15	GUncertain significance
Select item 1011936	NM_014165.4(NDUFAF4):c.64A>G (p.Ile22Val)	LOC129996857, NDUFAF4 (I22V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 911911	NM_014165.4(NDUFAF4):c.-11G>T	LOC129996857, NDUFAF4	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 911910	NM_014165.4(NDUFAF4):c.60G>T (p.Arg20=)	LOC129996857, NDUFAF4	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 499267	NM_014165.4(NDUFAF4):c.7G>C (p.Ala3Pro)	LOC129996857, NDUFAF4 (A3P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 432693	NM_014165.4(NDUFAF4):c.1A>G (p.Met1Val)	NDUFAF4, LOC129996857 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 376856	NM_014165.4(NDUFAF4):c.40C>A (p.Leu14Ile)	LOC129996857, NDUFAF4 (L14I)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 15 +1 more	GBenign/Likely benign
Select item 214752	NM_014165.4(NDUFAF4):c.70A>G (p.Lys24Glu)	NDUFAF4, LOC129996857 (K24E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214751	NM_014165.4(NDUFAF4):c.20_21delinsTT (p.Arg7Leu)	NDUFAF4, LOC129996857 (R7L)	Indel (missense variant)	not specified	GUncertain significance