"Baylor Genetics"[submitter] AND "NDUFAF5"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239844	NM_024120.5(NDUFAF5):c.11dup (p.Ala5fs)	NDUFAF5, LOC130065433 (A5fs)	Duplication (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 1983600	NM_024120.5(NDUFAF5):c.23G>A (p.Trp8Ter)	LOC130065433, NDUFAF5 (W8*)	Single nucleotide variant (nonsense +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 1982970	NM_024120.5(NDUFAF5):c.24G>A (p.Trp8Ter)	LOC130065433, NDUFAF5 (W8*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 2676972	NM_024120.5(NDUFAF5):c.30_31del (p.Cys11fs)	LOC130065433, NDUFAF5 (C11fs)	Deletion (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 2138338	NM_024120.5(NDUFAF5):c.29T>A (p.Leu10Ter)	LOC130065433, NDUFAF5 (L10*)	Single nucleotide variant (nonsense +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic
Select item 2676977	NM_024120.5(NDUFAF5):c.37C>T (p.Arg13Ter)	LOC130065433, NDUFAF5 (R13*)	Single nucleotide variant (nonsense +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 2139992	NM_024120.5(NDUFAF5):c.44G>A (p.Trp15Ter)	LOC130065433, NDUFAF5 (W15*)	Single nucleotide variant (nonsense +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 2073702	NM_024120.5(NDUFAF5):c.46del (p.Ala16fs)	LOC130065433, NDUFAF5 (A16fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676969	NM_024120.5(NDUFAF5):c.85delinsAA (p.Val29fs)	LOC130065433, NDUFAF5 (V29fs)	Indel (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 1028294	NM_024120.5(NDUFAF5):c.135T>A (p.Asn45Lys)	LOC130065433, NDUFAF5 (N45K)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 225006	NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr)	LOC130065433, NDUFAF5 (K52T)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GLikely pathogenic
Select item 2676976	NM_024120.5(NDUFAF5):c.165_166del (p.Lys56fs)	LOC130065433, NDUFAF5 (K56fs)	Deletion (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 2078597	NM_024120.5(NDUFAF5):c.183_190dup (p.Glu64fs)	LOC130065433, NDUFAF5 (E64fs)	Microsatellite (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1033617	NM_024120.5(NDUFAF5):c.176C>A (p.Ala59Glu)	LOC130065433, NDUFAF5 (A59E)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 3239842	NM_024120.5(NDUFAF5):c.189del (p.Glu64fs)	NDUFAF5 (E64fs)	Deletion (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 2141476	NM_024120.5(NDUFAF5):c.204del (p.Phe68fs)	NDUFAF5 (F68fs)	Deletion (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 991360	NM_024120.5(NDUFAF5):c.232C>T (p.Arg78Trp)	NDUFAF5 (R78W)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1909379	NM_024120.5(NDUFAF5):c.277_280del (p.Ala93fs)	NDUFAF5 (A93fs)	Deletion (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 265061	NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)	NDUFAF5 (K109N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2063118	NM_024120.5(NDUFAF5):c.327+2T>C	NDUFAF5	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 3239847	NM_024120.5(NDUFAF5):c.376-1G>T	NDUFAF5	Single nucleotide variant (splice acceptor variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 2676985	NM_024120.5(NDUFAF5):c.380dup (p.Asn127fs)	NDUFAF5 (N127fs)	Duplication (5 prime UTR variant +3 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 2154677	NM_024120.5(NDUFAF5):c.408dup (p.Ser137fs)	NDUFAF5 (S137fs)	Duplication (5 prime UTR variant +3 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 1985636	NM_024120.5(NDUFAF5):c.445G>T (p.Glu149Ter)	NDUFAF5 (E149*)	Single nucleotide variant (5 prime UTR variant +3 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 2676971	NM_024120.5(NDUFAF5):c.479+1G>A	NDUFAF5	Single nucleotide variant (splice donor variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 991366	NM_024120.5(NDUFAF5):c.480-3T>G	NDUFAF5	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GConflicting classifications of pathogenicity
Select item 3239846	NM_024120.5(NDUFAF5):c.480-1G>T	NDUFAF5	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 3239845	NM_024120.5(NDUFAF5):c.482dup (p.Leu161fs)	NDUFAF5 (L133fs +2 more)	Duplication (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 2676980	NM_024120.5(NDUFAF5):c.489G>A (p.Trp163Ter)	NDUFAF5 (W135* +2 more)	Single nucleotide variant (nonsense +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 2676974	NM_024120.5(NDUFAF5):c.520-1G>C	NDUFAF5	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 2676970	NM_024120.5(NDUFAF5):c.552dup (p.Ile185fs)	NDUFAF5 (I157fs +2 more)	Duplication (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 421779	NM_024120.5(NDUFAF5):c.583dup (p.Tyr195fs)	NDUFAF5 (Y167fs +3 more)	Duplication (frameshift variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 2676975	NM_024120.5(NDUFAF5):c.600del (p.Leu201fs)	NDUFAF5 (L14fs +3 more)	Deletion (frameshift variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 1321429	NM_024120.5(NDUFAF5):c.604C>T (p.Gln202Ter)	NDUFAF5 (Q15* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 570	NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro)	NDUFAF5 (L229P +3 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GLikely pathogenic
Select item 2676978	NM_024120.5(NDUFAF5):c.690del (p.Arg231fs)	NDUFAF5 (R203fs +3 more)	Deletion (frameshift variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 1722455	NM_024120.5(NDUFAF5):c.712_715del (p.Thr238fs)	NDUFAF5 (T210fs +3 more)	Deletion (frameshift variant +1 more)	Leigh syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2676986	NM_024120.5(NDUFAF5):c.711dup (p.Thr238fs)	NDUFAF5 (T210fs +3 more)	Duplication (frameshift variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 2676979	NM_024120.5(NDUFAF5):c.717+1G>A	NDUFAF5	Single nucleotide variant (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 501404	NM_024120.5(NDUFAF5):c.718-1G>A	NDUFAF5	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 372253	NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val)	NDUFAF5 (G250V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 285203	NM_024120.5(NDUFAF5):c.775C>T (p.Gln259Ter)	NDUFAF5 (Q259* +3 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GConflicting classifications of pathogenicity
Select item 2676982	NM_024120.5(NDUFAF5):c.779-1G>C	NDUFAF5	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 2676988	NM_024120.5(NDUFAF5):c.804del (p.Ala267_Trp268insTer)	NDUFAF5	Deletion (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 2676984	NM_024120.5(NDUFAF5):c.803G>A (p.Trp268Ter)	NDUFAF5 (W111* +3 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 800896	NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln)	NDUFAF5 (L117Q +3 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +2 more	GUncertain significance
Select item 2141503	NM_024120.5(NDUFAF5):c.826C>T (p.Arg276Ter)	NDUFAF5 (R119* +3 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic
Select item 2581631	NM_024120.5(NDUFAF5):c.827G>A (p.Arg276Gln)	NDUFAF5 (R119Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 225036	NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)	NDUFAF5 (M279R +3 more)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1983095	NM_024120.5(NDUFAF5):c.848C>T (p.Ala283Val)	NDUFAF5 (A283V +3 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GConflicting classifications of pathogenicity
Select item 2259823	NM_024120.5(NDUFAF5):c.866T>C (p.Met289Thr)	NDUFAF5 (M132T +3 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GUncertain significance
Select item 2676983	NM_024120.5(NDUFAF5):c.877G>T (p.Glu293Ter)	NDUFAF5 (E106* +3 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 2676973	NM_024120.5(NDUFAF5):c.926G>A (p.Trp309Ter)	NDUFAF5 (W122* +3 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 2676987	NM_024120.5(NDUFAF5):c.945+1G>A	NDUFAF5	Single nucleotide variant (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 2676981	NM_024120.5(NDUFAF5):c.946-2A>C	NDUFAF5	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex 1 deficiency, nuclear type 16	GUncertain significance
Select item 3239843	NM_024120.5(NDUFAF5):c.1004_1007del (p.Asn335fs)	NDUFAF5 (N148fs +3 more)	Deletion (frameshift variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 374218	NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs)	NDUFAF5 (S316fs +3 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 625735	GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055)	BANF2, BFSP1 +29 more	Copy number gain	not provided	GPathogenic

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Items: 58