ClinVar for MedGen (Select 1648411) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434093	NM_004551.3(NDUFS3):c.223C>T (p.Gln75Ter)	NDUFS3 (Q75*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 8	GUncertain significance
Select item 2431418	NM_004551.3(NDUFS3):c.382-1del	NDUFS3	Deletion (splice acceptor variant)	Mitochondrial complex 1 deficiency, nuclear type 8	GLikely pathogenic
Select item 1406925	NM_004551.3(NDUFS3):c.133+3_133+6del	NDUFS3	Deletion (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 8 +1 more	GUncertain significance
Select item 1064536	NM_004551.3(NDUFS3):c.419G>A (p.Arg140Gln)	NDUFS3 (R140Q)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 8	GUncertain significance
Select item 1030815	NM_004551.3(NDUFS3):c.406C>T (p.Arg136Cys)	NDUFS3 (R136C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 638291	NM_004551.3(NDUFS3):c.418C>T (p.Arg140Trp)	NDUFS3 (R140W)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 8 +1 more	GUncertain significance
Select item 418381	NM_004551.3(NDUFS3):c.374G>A (p.Arg125His)	NDUFS3 (R125H)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +2 more	GConflicting classifications of pathogenicity
Select item 304996	NM_004551.3(NDUFS3):c.381+6T>C	NDUFS3	Single nucleotide variant (intron variant)	Leigh syndrome +3 more	GUncertain significance
Select item 138491	NM_004551.3(NDUFS3):c.628-7C>T	NDUFS3	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 138490	NM_004551.3(NDUFS3):c.591T>C (p.Pro197=)	NDUFS3	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +4 more	GConflicting classifications of pathogenicity
Select item 6020	NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp)	NDUFS3 (R199W)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 8 +1 more	GPathogenic/Likely pathogenic
Select item 6019	NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile)	NDUFS3 (T145I)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 8 +1 more	GPathogenic/Likely pathogenic