ClinVar for MedGen (Select 1648496) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254825	NM_001377299.1(NDUFS2):c.442G>C (p.Glu148Gln)	NDUFS2 (E148Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6	GUncertain significance
Select item 2413148	NM_001377299.1(NDUFS2):c.245T>A (p.Leu82Gln)	NDUFS2 (L82Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6	GUncertain significance
Select item 2136289	NM_001377299.1(NDUFS2):c.59C>T (p.Pro20Leu)	LOC129931761, NDUFS2 (P20L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GUncertain significance
Select item 1973021	NM_001377299.1(NDUFS2):c.1342G>A (p.Val448Ile)	NDUFS2 (V448I +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GUncertain significance
Select item 1967017	NM_001377299.1(NDUFS2):c.845A>C (p.Glu282Ala)	NDUFS2 (E256A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1709667	NM_001377299.1(NDUFS2):c.860G>A (p.Gly287Asp)	NDUFS2 (G261D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6	GUncertain significance
Select item 1589328	NM_001377299.1(NDUFS2):c.777G>A (p.Glu259=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1422418	NM_001377299.1(NDUFS2):c.412C>T (p.Arg138Trp)	NDUFS2 (R138W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1303015	NM_001377299.1(NDUFS2):c.998G>A (p.Arg333Gln)	NDUFS2 (R333Q)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GUncertain significance
Select item 1030813	NM_001377299.1(NDUFS2):c.422A>G (p.Tyr141Cys)	NDUFS2 (Y141C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 985317	NM_001377299.1(NDUFS2):c.1324C>T (p.His442Tyr)	NDUFS2 (H442Y)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 973096	NM_001377299.1(NDUFS2):c.662G>A (p.Arg221Gln)	NDUFS2 (R221Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6	GUncertain significance
Select item 876337	NM_001377299.1(NDUFS2):c.1367T>C (p.Ile456Thr)	NDUFS2 (I456T)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 682383	NM_001377299.1(NDUFS2):c.1213-20C>T	NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GLikely benign
Select item 682109	NM_001377299.1(NDUFS2):c.393+12G>A	NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GLikely benign
Select item 638369	NM_001377299.1(NDUFS2):c.934G>C (p.Asp312His)	NDUFS2 (D312H)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6	GUncertain significance
Select item 516382	NM_001377299.1(NDUFS2):c.39C>A (p.Val13=)	LOC129931761, NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 384278	NM_001377299.1(NDUFS2):c.1355-7C>T	NDUFS2	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GLikely benign
Select item 382030	NM_001377299.1(NDUFS2):c.1116+20A>G	NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GLikely benign
Select item 293289	NM_001377299.1(NDUFS2):c.*114A>G	NDUFS2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 293273	NM_001377299.1(NDUFS2):c.337A>G (p.Ile113Val)	NDUFS2 (I113V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +3 more	GConflicting classifications of pathogenicity
Select item 293271	NM_001377299.1(NDUFS2):c.98G>A (p.Gly33Asp)	NDUFS2 (G33D)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 293269	NM_001377299.1(NDUFS2):c.58C>A (p.Pro20Thr)	NDUFS2, LOC129931761 (P20T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 293262	NM_004550.5(NDUFS2):c.-388G>T	NDUFS2	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign
Select item 214800	NM_001377299.1(NDUFS2):c.393+5G>A	NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GUncertain significance
Select item 214799	NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys)	NDUFS2 (Y53C)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +3 more	GUncertain significance
Select item 214796	NM_001377299.1(NDUFS2):c.1212G>A (p.Lys404=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 214795	NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp)	NDUFS2 (H380D)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +3 more	GConflicting classifications of pathogenicity
Select item 214791	NM_001377299.1(NDUFS2):c.177C>T (p.Ala59=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GBenign/Likely benign
Select item 214790	NM_001377299.1(NDUFS2):c.95+9G>C	LOC129931761, NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GBenign/Likely benign
Select item 214787	NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln)	NDUFS2 (R323Q)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 138486	NM_001377299.1(NDUFS2):c.986+12A>G	NDUFS2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 129698	NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GBenign
Select item 129697	NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala)	NDUFS2 (P352A)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GBenign/Likely benign
Select item 6711	NM_001377299.1(NDUFS2):c.1237T>C (p.Ser413Pro)	NDUFS2 (S413P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GLikely pathogenic
Select item 6710	NM_001377299.1(NDUFS2):c.686C>A (p.Pro229Gln)	NDUFS2 (P229Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6	GPathogenic
Select item 6709	NM_001377299.1(NDUFS2):c.683G>A (p.Arg228Gln)	NDUFS2 (R228Q)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity

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Items: 37