CN257533[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 138486	NM_001377299.1(NDUFS2):c.986+12A>G	NDUFS2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
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 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 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 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 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 129695	NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=)	NDUFS1	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +4 more	GBenign
Select item 129696	NM_005006.7(NDUFS1):c.966G>T (p.Ala322=)	NDUFS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 129686	NM_004544.4(NDUFA10):c.771A>G (p.Gln257=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +3 more	GBenign
Select item 129685	NM_004544.4(NDUFA10):c.105A>G (p.Lys35=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +3 more	GBenign
Select item 353193	NM_004553.6(NDUFS6):c.310-15T>C	NDUFS6	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 9 +2 more	GBenign
Select item 129699	NM_002495.4(NDUFS4):c.12G>C (p.Val4=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 129700	NM_002495.4(NDUFS4):c.198A>C (p.Gly66=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +3 more	GBenign
Select item 129701	NM_002495.4(NDUFS4):c.312A>G (p.Arg104=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +2 more	GBenign
Select item 353891	NM_002495.4(NDUFS4):c.424+19dup	NDUFS4	Duplication (intron variant)	Leigh syndrome +4 more	GBenign/Likely benign
Select item 129691	NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=)	ERCC8, NDUFAF2	Single nucleotide variant (synonymous variant)	Leigh syndrome +4 more	GBenign
Select item 129693	NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=)	NDUFAF4	Single nucleotide variant (synonymous variant)	Mitochondrial complex 1 deficiency, nuclear type 15 +2 more	GBenign
Select item 129692	NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=)	NDUFAF4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 305765	NM_002496.4(NDUFS8):c.199+15T>G	NDUFS8	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 2 +3 more	GBenign
Select item 303532	NM_017547.4(FOXRED1):c.-2T>C	FOXRED1, LOC130007026	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign
Select item 129689	NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu)	NDUFAF1 (R31L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 129688	NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His)	NDUFAF1 (R9H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 9054	NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala)	NDUFV2 (V29A)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 7 +3 more	GBenign
Select item 129703	NM_021074.5(NDUFV2):c.201A>T (p.Val67=)	NDUFV2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 129702	NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu)	NDUFS7 (P23L)	Single nucleotide variant (missense variant)	Leigh syndrome +4 more	GBenign

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Items: 30