"GeneDx"[submitter] AND "NDUFAF4"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 358268	NM_014165.4(NDUFAF4):c.*301T>A	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign
Select item 1185953	NM_014165.4(NDUFAF4):c.*137A>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 358271	NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr)	NDUFAF4 (F164Y)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 3299039	NM_014165.4(NDUFAF4):c.452C>T (p.Ser151Phe)	NDUFAF4 (S151F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 129693	NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=)	NDUFAF4	Single nucleotide variant (synonymous variant)	Mitochondrial complex 1 deficiency, nuclear type 15 +2 more	GBenign
Select item 129692	NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=)	NDUFAF4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2618792	NM_014165.4(NDUFAF4):c.287C>T (p.Pro96Leu)	NDUFAF4 (P96L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 138460	NM_014165.4(NDUFAF4):c.280A>C (p.Arg94=)	NDUFAF4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 516942	NM_014165.4(NDUFAF4):c.270G>A (p.Pro90=)	NDUFAF4	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 516860	NM_014165.3(NDUFAF4):c.241-10_241-9dup	NDUFAF4	Duplication (intron variant)	not provided	GBenign
Select item 358272	NM_014165.4(NDUFAF4):c.241-18dup	NDUFAF4	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 214750	NM_014165.4(NDUFAF4):c.238C>A (p.Gln80Lys)	NDUFAF4 (Q80K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1254154	NM_014165.4(NDUFAF4):c.197A>G (p.Lys66Arg)	NDUFAF4 (K66R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 358274	NM_014165.4(NDUFAF4):c.184C>T (p.Leu62=)	NDUFAF4	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1213341	NM_014165.4(NDUFAF4):c.137-37C>T	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677882	NM_014165.4(NDUFAF4):c.137-331C>G	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1693025	NM_014165.4(NDUFAF4):c.137-397T>A	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681227	NM_014165.4(NDUFAF4):c.136+309C>T	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675543	NM_014165.4(NDUFAF4):c.136+149C>T	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138461	NM_014165.4(NDUFAF4):c.120G>A (p.Leu40=)	NDUFAF4	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 138459	NM_014165.4(NDUFAF4):c.111C>T (p.Asn37=)	NDUFAF4	Single nucleotide variant (synonymous variant)	not provided +2 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 3370076	NM_014165.4(NDUFAF4):c.55G>A (p.Glu19Lys)	NDUFAF4, LOC129996857 (E19K)	Single nucleotide variant (missense variant)	not provided	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 214751	NM_014165.4(NDUFAF4):c.20_21delinsTT (p.Arg7Leu)	NDUFAF4, LOC129996857 (R7L)	Indel (missense variant)	not specified	GUncertain significance
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 379085	NM_014165.4(NDUFAF4):c.-25C>T	NDUFAF4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1219368	NM_014165.4(NDUFAF4):c.-59dup	NDUFAF4	Duplication (5 prime UTR variant)	not provided	GBenign/Likely benign
Select item 1187322	NC_000006.12:g.96897897dup	NDUFAF4	Duplication	not provided	GLikely benign
Select item 1289637	NC_000006.12:g.96897902C>G	NDUFAF4	Single nucleotide variant	not provided	GBenign
Select item 1291024	NC_000006.12:g.96898025A>G	NDUFAF4	Single nucleotide variant	not provided	GBenign
Select item 681254	NM_014165.2(NDUFAF4):c.-312T>C	KLHL32, NDUFAF4	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1205563	NC_000006.12:g.96898116CT[3]	KLHL32, NDUFAF4	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 3360162	NM_014165.4(NDUFAF4):c.145del (p.Glu49fs)	NDUFAF4 (E49fs)	Deletion (frameshift variant)	not provided	GUncertain significance

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Items: 34