ClinVar for MedGen (Select 1648346) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442036	NM_024407.5(NDUFS7):c.537C>A (p.Tyr179Ter)	NDUFS7 (Y179*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 3	GLikely pathogenic
Select item 2155247	NM_024407.5(NDUFS7):c.520G>A (p.Val174Met)	NDUFS7 (V174M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1806253	NM_024407.5(NDUFS7):c.304G>A (p.Asp102Asn)	NDUFS7 (D102N)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 3	GLikely pathogenic
Select item 1806251	NM_024407.5(NDUFS7):c.256C>G (p.Leu86Val)	NDUFS7 (L86V)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 3 +1 more	GConflicting classifications of pathogenicity
Select item 1522732	NM_024407.5(NDUFS7):c.180C>T (p.Gly60=)	NDUFS7	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1185398	NM_024407.5(NDUFS7):c.455+71G>A	NDUFS7	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 3 +1 more	GBenign
Select item 689475	NM_024407.5(NDUFS7):c.415G>A (p.Asp139Asn)	NDUFS7 (D139N)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 3	GLikely pathogenic
Select item 514399	NM_024407.5(NDUFS7):c.54-19G>A	NDUFS7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 423998	NM_024407.5(NDUFS7):c.439G>A (p.Val147Met)	NDUFS7 (V147M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 129702	NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu)	NDUFS7 (P23L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 7683	NM_024407.5(NDUFS7):c.17-1167C>G	NDUFS7	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely pathogenic
Select item 7682	NM_024407.5(NDUFS7):c.434G>A (p.Arg145His)	NDUFS7 (R145H)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 3	GPathogenic
Select item 7681	NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)	NDUFS7 (V122M)	Single nucleotide variant (missense variant)	Leigh syndrome +2 more	GPathogenic/Likely pathogenic