C5435656[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 380082	NM_198076.6(COX20):c.157+3G>C	COX20	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 11 +1 more	GPathogenic/Likely pathogenic
Select item 383939	NM_198076.6(COX20):c.340G>A (p.Gly114Ser)	COX20 (G114S +2 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +3 more	GConflicting classifications of pathogenicity
Select item 333799	NM_001136193.2(FASTKD2):c.-15A>G	FASTKD2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 333801	NM_001136193.2(FASTKD2):c.225A>G (p.Arg75=)	FASTKD2	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 896448	NM_001136193.2(FASTKD2):c.683A>C (p.Gln228Pro)	FASTKD2 (Q228P)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GUncertain significance
Select item 896449	NM_001136193.2(FASTKD2):c.712G>A (p.Ala238Thr)	FASTKD2 (A238T)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +2 more	GUncertain significance
Select item 333806	NM_001136193.2(FASTKD2):c.1778C>T (p.Ser593Leu)	FASTKD2 (S593L)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 899199	NM_001136193.2(FASTKD2):c.1870G>T (p.Asp624Tyr)	FASTKD2 (D624Y)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GUncertain significance
Select item 895081	NM_001136193.2(FASTKD2):c.1993A>G (p.Met665Val)	FASTKD2 (M665V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 333809	NM_001136193.2(FASTKD2):c.2074A>G (p.Lys692Glu)	FASTKD2 (K692E)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 419972	NM_003172.4(SURF1):c.808_822dup (p.Glu270_Tyr274dup)	SURF1	Duplication (inframe_insertion)	not provided +2 more	GLikely pathogenic
Select item 1329011	NM_003172.4(SURF1):c.575G>A (p.Arg192Gln)	SURF1 (R192Q +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 215235	NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)	SURF1 (R192W +1 more)	Single nucleotide variant (missense variant)	Mitochondrial disease +4 more	GPathogenic/Likely pathogenic
Select item 139374	NM_003172.4(SURF1):c.573C>G (p.Thr191=)	SURF1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1176911	NM_003172.4(SURF1):c.508G>A (p.Asp170Asn)	SURF1 (D170N +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 215233	NM_003172.4(SURF1):c.409C>T (p.Arg137Trp)	SURF1 (R137W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1182215	NM_003172.4(SURF1):c.367_368del (p.Arg123fs)	SURF1 (R123fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 215231	NM_003172.4(SURF1):c.322G>A (p.Asp108Asn)	SURF1 (D108N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 215237	NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer)	SURF1	Indel (5 prime UTR variant +1 more)	SURF1-related disorder +4 more	GPathogenic
Select item 379506	NM_003172.4(SURF1):c.240+1G>T	SURF1	Single nucleotide variant (splice donor variant)	Leigh syndrome +3 more	GPathogenic
Select item 215241	NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del)	SURF1	Deletion (5 prime UTR variant +2 more)	not provided +3 more	GPathogenic
Select item 215123	NM_004589.4(SCO1):c.787A>G (p.Ile263Val)	SCO1 (I263V)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 4 +3 more	GUncertain significance
Select item 321795	NM_004589.4(SCO1):c.304T>G (p.Phe102Val)	SCO1 (F102V)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 4 +2 more	GUncertain significance
Select item 139077	NM_004589.4(SCO1):c.297A>G (p.Ala99=)	SCO1	Single nucleotide variant (synonymous variant)	Leigh syndrome +4 more	GBenign/Likely benign
Select item 321797	NM_004589.4(SCO1):c.259C>T (p.Pro87Ser)	SCO1 (P87S)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GUncertain significance
Select item 889502	NM_004589.4(SCO1):c.140G>A (p.Arg47Gln)	LOC112529895, SCO1 (R47Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1028273	NM_004589.4(SCO1):c.94C>G (p.Pro32Ala)	LOC112529895, SCO1 (P32A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 891985	NM_001303.4(COX10):c.-89G>C	COX10	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +2 more	GUncertain significance
Select item 889563	NM_001303.4(COX10):c.-89G>T	COX10	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +2 more	GUncertain significance
Select item 321812	NM_001303.4(COX10):c.173G>A (p.Arg58His)	COX10 (R58H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 449007	NM_001303.4(COX10):c.311C>T (p.Pro104Leu)	COX10 (P104L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 890834	NM_001303.4(COX10):c.736C>T (p.Pro246Ser)	COX10, LOC105943586 (P246S)	Single nucleotide variant (missense variant)	Leigh syndrome +2 more	GUncertain significance
Select item 7525	NM_001303.4(COX10):c.1007A>T (p.Asp336Val)	COX10 (D336V)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3 +2 more	GPathogenic/Likely pathogenic
Select item 444401	NM_001303.4(COX10):c.1061G>A (p.Arg354Gln)	COX10 (R354Q)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3 +4 more	GUncertain significance
Select item 888614	NM_001303.4(COX10):c.1169C>T (p.Ala390Val)	COX10 (A390V)	Single nucleotide variant (missense variant)	Leigh syndrome +4 more	GUncertain significance
Select item 1029447	NM_016360.4(TACO1):c.476A>G (p.Lys159Arg)	TACO1 (K159R)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 125441	NM_001171155.2(PET100):c.3G>C (p.Met1Ile)	PET100, STXBP2 (M1I)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 12 +2 more	GPathogenic
Select item 889433	NM_001863.5(COX6B1):c.212C>T (p.Thr71Ile)	COX6B1 (T71I)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 342125	NM_005138.3(SCO2):c.244A>G (p.Lys82Glu)	NCAPH2, SCO2 (K82E)	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GUncertain significance
Select item 9589	NC_012920.1(MT-TL1):m.3243A>G	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +12 more	GPathogenic/Likely pathogenic

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Items: 40