ClinVar for MedGen (Select 1764816) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582510	NM_001303.4(COX10):c.1262T>C (p.Leu421Pro)	COX10 (L421P)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GUncertain significance
Select item 2582413	NM_001303.4(COX10):c.620del (p.Asn207fs)	COX10 (N207fs)	Deletion (frameshift variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GLikely pathogenic
Select item 2440518	NM_001303.4(COX10):c.172C>T (p.Arg58Cys)	COX10 (R58C)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GUncertain significance
Select item 2413136	NM_001303.4(COX10):c.878C>T (p.Ala293Val)	COX10, LOC105943586 (A293V)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GUncertain significance
Select item 2413135	NM_001303.4(COX10):c.1037C>T (p.Ser346Leu)	COX10 (S346L)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GUncertain significance
Select item 1693693	NM_001303.4(COX10):c.34C>T (p.Leu12Phe)	COX10, LOC130060303 (L12F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1677043	NM_001303.4(COX10):c.413_414del (p.Lys138fs)	COX10 (K138fs)	Deletion (frameshift variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GLikely pathogenic
Select item 1590305	NM_001303.4(COX10):c.1185C>T (p.Leu395=)	COX10	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1500533	NM_001303.4(COX10):c.625T>C (p.Phe209Leu)	COX10 (F209L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1370660	NM_001303.4(COX10):c.520G>A (p.Ala174Thr)	COX10 (A174T)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3 +1 more	GUncertain significance
Select item 1333055	NM_001303.4(COX10):c.1096G>A (p.Val366Met)	COX10 (V366M)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3 +1 more	GUncertain significance
Select item 1227342	NM_001303.4(COX10):c.535T>C (p.Leu179=)	COX10	Single nucleotide variant (synonymous variant)	Mitochondrial complex 4 deficiency, nuclear type 3 +1 more	GBenign/Likely benign
Select item 1162813	NM_001303.4(COX10):c.1070C>T (p.Ala357Val)	COX10 (A357V)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3 +1 more	GUncertain significance
Select item 1031966	NM_001303.4(COX10):c.1192C>T (p.Arg398Cys)	COX10 (R398C)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 1031965	NM_001303.4(COX10):c.1186G>A (p.Gly396Ser)	COX10 (G396S)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GUncertain significance
Select item 1030367	NM_001303.4(COX10):c.394G>T (p.Asp132Tyr)	COX10 (D132Y)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 1013385	NM_001303.4(COX10):c.724TGT[1] (p.Cys243del)	COX10, LOC105943586 (C243del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 891985	NM_001303.4(COX10):c.-89G>C	COX10	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +3 more	GUncertain significance
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 889563	NM_001303.4(COX10):c.-89G>T	COX10	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +2 more	GUncertain significance
Select item 888614	NM_001303.4(COX10):c.1169C>T (p.Ala390Val)	COX10 (A390V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 559247	NM_001303.4(COX10):c.561C>T (p.Pro187=)	COX10	Single nucleotide variant (synonymous variant)	Mitochondrial complex 4 deficiency, nuclear type 3 +1 more	GLikely benign
Select item 498097	NM_001303.4(COX10):c.307T>G (p.Ser103Ala)	COX10 (S103A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 449007	NM_001303.4(COX10):c.311C>T (p.Pro104Leu)	COX10 (P104L)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 444401	NM_001303.4(COX10):c.1061G>A (p.Arg354Gln)	COX10 (R354Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 389192	NM_001303.4(COX10):c.695+11G>A	COX10	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 3 +1 more	GLikely benign
Select item 377745	NM_001303.4(COX10):c.48C>T (p.Cys16=)	COX10	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 377357	NM_001303.4(COX10):c.1027T>C (p.Cys343Arg)	COX10 (C343R)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 321844	NM_001303.4(COX10):c.*1459del	COX10	Deletion (3 prime UTR variant)	Mitochondrial complex 4 deficiency, nuclear type 3 +2 more	GUncertain significance
Select item 321812	NM_001303.4(COX10):c.173G>A (p.Arg58His)	COX10 (R58H)	Single nucleotide variant (missense variant)	Leigh syndrome +4 more	GUncertain significance
Select item 287432	NM_001303.4(COX10):c.781G>T (p.Ala261Ser)	COX10, LOC105943586 (A261S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 137002	NM_001303.4(COX10):c.1096G>T (p.Val366Leu)	COX10 (V366L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 7527	NM_001303.4(COX10):c.2T>C (p.Met1Thr)	COX10, LOC130060303 (M1T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 3	GPathogenic
Select item 7526	NM_001303.4(COX10):c.1007A>G (p.Asp336Gly)	COX10 (D336G)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GPathogenic
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 7524	NM_001303.4(COX10):c.674C>T (p.Pro225Leu)	COX10 (P225L)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GLikely pathogenic
Select item 7523	NM_001303.4(COX10):c.587C>A (p.Thr196Lys)	COX10 (T196K)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GPathogenic
Select item 7522	NM_001303.4(COX10):c.612C>A (p.Asn204Lys)	COX10 (N204K)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GPathogenic

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Items: 38