"Baylor Genetics"[submitter] AND "LOC130065433"[gene] - ClinVar - NCBI

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Items: 14

	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