ClinVar for MedGen (Select 1750917) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 483

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064912	NM_003172.4(SURF1):c.827_828del (p.Val276fs)	SURF1 (V167fs +1 more)	Deletion (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 3064361	NM_003172.4(SURF1):c.657_658del (p.Asn220fs)	SURF1 (N111fs +1 more)	Microsatellite (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 2585590	NM_003172.4(SURF1):c.812A>G (p.His271Arg)	SURF1 (H271R +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 2580921	NM_003172.4(SURF1):c.38_44del (p.Ala13fs)	SURF1 (A13fs)	Deletion (5 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GPathogenic
Select item 2506394	NM_001297732.2(COX18):c.667G>C (p.Asp223His)	COX18 (D222H +3 more)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 2500703	NM_004589.4(SCO1):c.220C>T (p.Pro74Ser)	SCO1 (P74S)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 2446423	NM_003172.4(SURF1):c.809_810dup (p.His271fs)	SURF1 (H162fs +1 more)	Duplication (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 2413161	NM_003172.4(SURF1):c.187C>T (p.Gln63Ter)	SURF1 (Q63*)	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 2413160	NM_003172.4(SURF1):c.515+2T>C	SURF1	Single nucleotide variant (splice donor variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 2413159	NM_003172.4(SURF1):c.227T>A (p.Leu76Ter)	SURF1 (L76*)	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 2413158	NM_003172.4(SURF1):c.65del (p.Ser22fs)	LOC130002899, SURF1 (S22fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2413157	NM_003172.4(SURF1):c.49G>T (p.Gly17Ter)	LOC130002899, SURF1 (G17*)	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 2413149	NM_003172.4(SURF1):c.554dup (p.Lys186fs)	SURF1 (K186fs +1 more)	Duplication (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 2413141	NM_003172.4(SURF1):c.779G>A (p.Gly260Glu)	SURF1 (G151E +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 2413132	NM_003172.4(SURF1):c.584G>T (p.Gly195Val)	SURF1 (G195V +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2413128	NM_003172.4(SURF1):c.899_902del (p.Val300fs)	SURF1 (V191fs +1 more)	Microsatellite (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 2413127	NM_003172.4(SURF1):c.833+1del	SURF1	Deletion (splice donor variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 2413126	NM_003172.4(SURF1):c.516-1G>A	SURF1	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 2413125	NM_003172.4(SURF1):c.584G>A (p.Gly195Asp)	SURF1 (G195D +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 2413124	NM_003172.4(SURF1):c.856T>C (p.Ser286Pro)	SURF1 (S177P +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 1494101	NM_003172.4(SURF1):c.703A>G (p.Met235Val)	SURF1 (M126V +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1416074	NM_003172.4(SURF1):c.552del (p.Lys185fs)	SURF1 (K185fs +1 more)	Deletion (frameshift variant)	Leigh syndrome +2 more	GPathogenic
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 1323662	NM_003172.4(SURF1):c.152dup (p.Ser52fs)	SURF1 (S52fs)	Duplication (5 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GPathogenic
Select item 1315638	NM_003172.4(SURF1):c.106G>C (p.Gly36Arg)	SURF1 (G36R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1212319	NM_003172.4(SURF1):c.491C>T (p.Thr164Ile)	SURF1 (T164I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 1034098	NM_004589.4(SCO1):c.263dup (p.Lys89fs)	SCO1 (K89fs)	Duplication (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 1033634	NM_004074.3(COX8A):c.171G>T (p.Trp57Cys)	COX8A (W57C)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 1033410	NM_016360.4(TACO1):c.97dup (p.Arg33fs)	TACO1 (R33fs)	Duplication (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 1032951	NM_001370595.2(COA8):c.67G>T (p.Gly23Cys)	COA8 (G23C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1030369	NM_001303.4(COX10):c.679G>A (p.Val227Ile)	COX10 (V227I)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 1030368	NM_001303.4(COX10):c.637C>T (p.Pro213Ser)	COX10 (P213S)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 1030024	NM_001370595.2(COA8):c.-10dup	COA8	Duplication (5 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 1028273	NM_004589.4(SCO1):c.94C>G (p.Pro32Ala)	LOC112529895, SCO1 (P32A)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 1028271	NM_004589.4(SCO1):c.628A>C (p.Lys210Gln)	SCO1 (K210Q)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 1027911	NM_001136193.2(FASTKD2):c.452C>T (p.Pro151Leu)	FASTKD2 (P151L)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 931471	NM_016360.4(TACO1):c.583del (p.Asp195fs)	TACO1 (D195fs)	Deletion (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 902939	NM_005138.3(SCO2):c.541G>A (p.Val181Ile)	NCAPH2, SCO2 (V181I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 900447	NM_005138.3(SCO2):c.173G>A (p.Arg58Gln)	NCAPH2, SCO2 (R58Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 900387	NM_005138.3(SCO2):c.226C>T (p.Leu76=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 899305	NM_001136193.2(FASTKD2):c.*2937A>C	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 899304	NM_001136193.2(FASTKD2):c.*2885C>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 899303	NM_001136193.2(FASTKD2):c.*2463T>C	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 899253	NM_001136193.2(FASTKD2):c.*1406G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 899252	NM_001136193.2(FASTKD2):c.*1295C>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
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 899198	NM_001136193.2(FASTKD2):c.1630G>A (p.Asp544Asn)	FASTKD2 (D544N)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 899197	NM_001136193.2(FASTKD2):c.1427+12T>G	FASTKD2	Single nucleotide variant (intron variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 899133	NM_001136193.2(FASTKD2):c.-190A>G	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898274	NM_001136193.2(FASTKD2):c.*4009G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely benign
Select item 898273	NM_001136193.2(FASTKD2):c.*3862C>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898272	NM_001136193.2(FASTKD2):c.*3730C>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898202	NM_001136193.2(FASTKD2):c.*2374C>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898201	NM_001136193.2(FASTKD2):c.*2346C>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898200	NM_001136193.2(FASTKD2):c.*2141G>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898199	NM_001136193.2(FASTKD2):c.*2107T>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898146	NM_001136193.2(FASTKD2):c.*1158C>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898145	NM_001136193.2(FASTKD2):c.*813G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898144	NM_001136193.2(FASTKD2):c.*799C>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898075	NM_001136193.2(FASTKD2):c.1034G>A (p.Ser345Asn)	FASTKD2 (S345N)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898074	NM_001136193.2(FASTKD2):c.999C>T (p.Ala333=)	FASTKD2	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898017	NM_014929.3(FASTKD2):c.-158T>C	FASTKD2, LOC129935479	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 897104	NM_001136193.2(FASTKD2):c.*3677G>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely benign
Select item 897103	NM_001136193.2(FASTKD2):c.*3559G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 897102	NM_001136193.2(FASTKD2):c.*3542C>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 897101	NM_001136193.2(FASTKD2):c.*3502G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 897100	NM_001136193.2(FASTKD2):c.*3470C>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896638	NM_001136193.2(FASTKD2):c.*3453A>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896637	NM_001136193.2(FASTKD2):c.*3450G>C	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896636	NM_001136193.2(FASTKD2):c.*3429G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896635	NM_001136193.2(FASTKD2):c.*3318G>C	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896634	NM_001136193.2(FASTKD2):c.*3297C>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896573	NM_001136193.2(FASTKD2):c.*2085G>C	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896572	NM_001136193.2(FASTKD2):c.*2021G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896571	NM_001136193.2(FASTKD2):c.*1883T>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896570	NM_001136193.2(FASTKD2):c.*1716A>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896569	NM_001136193.2(FASTKD2):c.*1700A>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896527	NM_001136193.2(FASTKD2):c.*328T>C	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896526	NM_001136193.2(FASTKD2):c.*257G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896525	NM_001136193.2(FASTKD2):c.*104A>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896450	NM_001136193.2(FASTKD2):c.945G>A (p.Lys315=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 895275	NM_001136193.2(FASTKD2):c.*4326C>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895274	NM_001136193.2(FASTKD2):c.*4266G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely benign
Select item 895273	NM_001136193.2(FASTKD2):c.*4237A>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895272	NM_001136193.2(FASTKD2):c.*4222A>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895220	NM_001136193.2(FASTKD2):c.*3231G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895219	NM_001136193.2(FASTKD2):c.*3135T>C	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895218	NM_001136193.2(FASTKD2):c.*3121T>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895217	NM_001136193.2(FASTKD2):c.*2997A>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895216	NM_001136193.2(FASTKD2):c.*2994A>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895149	NM_001136193.2(FASTKD2):c.*1579G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895148	NM_001136193.2(FASTKD2):c.*1578C>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895147	NM_001136193.2(FASTKD2):c.*1494A>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895146	NM_001136193.2(FASTKD2):c.*1464C>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895145	NM_001136193.2(FASTKD2):c.*1450T>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance

<< First< Prev

Page of 5