GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 |
copy number gain |
See cases [RCV000050957] |
Chr17:36449220..68170214 [GRCh38] Chr17:48563237..65936105 [GRCh37] Chr17:45918236..63677950 [NCBI36] Chr17:17q21.33-24.2 |
pathogenic |
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] |
Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3 |
pathogenic |
GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3 |
copy number gain |
See cases [RCV000052485] |
Chr17:59209629..64222315 [GRCh37] Chr17:56564411..61652777 [NCBI36] Chr17:17q23-24 |
pathogenic |
NM_016360.4(TACO1):c.472dup (p.His158fs) |
duplication |
Mitochondrial complex 4 deficiency, nuclear type 8 [RCV001261873]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001004917] |
Chr17:63606395..63606396 [GRCh38] Chr17:61683755..61683756 [GRCh37] Chr17:17q23.3 |
pathogenic|likely pathogenic |
NM_016360.4(TACO1):c.433G>A (p.Gly145Ser) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV001122802]|TACO1-related disorder [RCV003975133]|not provided [RCV000427635]|not specified [RCV000128355] |
Chr17:63606358 [GRCh38] Chr17:61683718 [GRCh37] Chr17:17q23.3 |
benign |
NM_016360.4(TACO1):c.516-18T>A |
single nucleotide variant |
not provided [RCV002055835]|not specified [RCV000128356] |
Chr17:63607269 [GRCh38] Chr17:61684629 [GRCh37] Chr17:17q23.3 |
benign|likely benign |
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 |
copy number gain |
See cases [RCV000137437] |
Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1 |
pathogenic |
NM_016360.4(TACO1):c.650A>T (p.Asp217Val) |
single nucleotide variant |
not provided [RCV000197984] |
Chr17:63607421 [GRCh38] Chr17:61684781 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.614G>A (p.Arg205His) |
single nucleotide variant |
Inborn genetic diseases [RCV003380516]|not provided [RCV001853203]|not specified [RCV000195549] |
Chr17:63607385 [GRCh38] Chr17:61684745 [GRCh37] Chr17:17q23.3 |
likely benign|uncertain significance |
NM_016360.4(TACO1):c.742T>G (p.Ser248Ala) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV001122804]|not provided [RCV000199862] |
Chr17:63607850 [GRCh38] Chr17:61685210 [GRCh37] Chr17:17q23.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016360.4(TACO1):c.98G>A (p.Arg33Gln) |
single nucleotide variant |
not provided [RCV000196311] |
Chr17:63601181 [GRCh38] Chr17:61678540 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.*19C>T |
single nucleotide variant |
not specified [RCV000196435] |
Chr17:63608021 [GRCh38] Chr17:61685381 [GRCh37] Chr17:17q23.3 |
benign |
NM_016360.4(TACO1):c.498T>C (p.His166=) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV000380570]|TACO1-related disorder [RCV004757166]|not provided [RCV000677083]|not specified [RCV000199988] |
Chr17:63606423 [GRCh38] Chr17:61683783 [GRCh37] Chr17:17q23.3 |
benign|likely benign|uncertain significance |
GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3 |
copy number gain |
See cases [RCV000240364] |
Chr17:56321134..62080001 [GRCh37] Chr17:17q22-23.3 |
pathogenic |
NM_016360.4(TACO1):c.261C>T (p.Asn87=) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV000270979] |
Chr17:63601344 [GRCh38] Chr17:61678703 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.-177C>T |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV000271637] |
Chr17:63600907 [GRCh38] Chr17:61678266 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.515+11G>A |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV000322280] |
Chr17:63606451 [GRCh38] Chr17:61683811 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.*44G>T |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV000282582] |
Chr17:63608046 [GRCh38] Chr17:61685406 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.765C>G (p.Ser255=) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV000374696] |
Chr17:63607873 [GRCh38] Chr17:61685233 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.-163A>G |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV000328995] |
Chr17:63600921 [GRCh38] Chr17:61678280 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.297T>G (p.Pro99=) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV000323588]|not provided [RCV000978426] |
Chr17:63604550 [GRCh38] Chr17:61681910 [GRCh37] Chr17:17q23.3 |
likely benign|uncertain significance |
NM_016360.4(TACO1):c.212G>C (p.Gly71Ala) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV000363215] |
Chr17:63601295 [GRCh38] Chr17:61678654 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.511A>C (p.Asn171His) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV000283651] |
Chr17:63606436 [GRCh38] Chr17:61683796 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.*230G>A |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV000334407] |
Chr17:63608232 [GRCh38] Chr17:61685592 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.609A>C (p.Leu203=) |
single nucleotide variant |
not specified [RCV000445052] |
Chr17:63607380 [GRCh38] Chr17:61684740 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.885C>T (p.Asn295=) |
single nucleotide variant |
not provided [RCV002062770]|not specified [RCV000435922] |
Chr17:63607993 [GRCh38] Chr17:61685353 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.819G>A (p.Leu273=) |
single nucleotide variant |
Mitochondrial complex 4 deficiency, nuclear type 8 [RCV002506067]|not provided [RCV000920515]|not specified [RCV000430113] |
Chr17:63607927 [GRCh38] Chr17:61685287 [GRCh37] Chr17:17q23.3 |
likely benign |
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 |
copy number gain |
See cases [RCV000447823] |
Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3 |
pathogenic |
NM_016360.4(TACO1):c.620T>C (p.Leu207Pro) |
single nucleotide variant |
not provided [RCV000478753] |
Chr17:63607391 [GRCh38] Chr17:61684751 [GRCh37] Chr17:17q23.3 |
likely pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_016360.4(TACO1):c.422G>A (p.Arg141Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003258202] |
Chr17:63606347 [GRCh38] Chr17:61683707 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.219G>A (p.Lys73=) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV001128508]|not provided [RCV000904237]|not specified [RCV000610627] |
Chr17:63601302 [GRCh38] Chr17:61678661 [GRCh37] Chr17:17q23.3 |
likely benign|uncertain significance |
NM_016360.4(TACO1):c.327A>G (p.Leu109=) |
single nucleotide variant |
Mitochondrial complex 4 deficiency, nuclear type 8 [RCV002476368]|TACO1-related disorder [RCV003980186]|not provided [RCV000616578] |
Chr17:63604580 [GRCh38] Chr17:61681940 [GRCh37] Chr17:17q23.3 |
benign|likely benign |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_016360.4(TACO1):c.*275_*291del |
deletion |
not provided [RCV001680245] |
Chr17:63608273..63608289 [GRCh38] Chr17:61685633..61685649 [GRCh37] Chr17:17q23.3 |
benign |
NM_016360.4(TACO1):c.873C>T (p.His291=) |
single nucleotide variant |
Mitochondrial complex 4 deficiency, nuclear type 8 [RCV002506680]|not provided [RCV001572598] |
Chr17:63607981 [GRCh38] Chr17:61685341 [GRCh37] Chr17:17q23.3 |
likely benign |
GRCh37/hg19 17q23.2-24.2(chr17:59597348-64886364)x3 |
copy number gain |
not provided [RCV000752158] |
Chr17:59597348..64886364 [GRCh37] Chr17:17q23.2-24.2 |
pathogenic |
NM_016360.4(TACO1):c.388-183G>A |
single nucleotide variant |
not provided [RCV001552237] |
Chr17:63606130 [GRCh38] Chr17:61683490 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.27A>G (p.Leu9=) |
single nucleotide variant |
Mitochondrial complex 4 deficiency, nuclear type 8 [RCV002505281]|not provided [RCV000892000] |
Chr17:63601110 [GRCh38] Chr17:61678469 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.204C>T (p.His68=) |
single nucleotide variant |
not provided [RCV000927683] |
Chr17:63601287 [GRCh38] Chr17:61678646 [GRCh37] Chr17:17q23.3 |
likely benign |
GRCh37/hg19 17q22-24.2(chr17:57357088-66306668) |
copy number gain |
not provided [RCV000767764] |
Chr17:57357088..66306668 [GRCh37] Chr17:17q22-24.2 |
pathogenic |
NM_016360.4(TACO1):c.516-132A>G |
single nucleotide variant |
not provided [RCV000836237] |
Chr17:63607155 [GRCh38] Chr17:61684515 [GRCh37] Chr17:17q23.3 |
benign |
NM_016360.4(TACO1):c.516-90A>G |
single nucleotide variant |
not provided [RCV000836238] |
Chr17:63607197 [GRCh38] Chr17:61684557 [GRCh37] Chr17:17q23.3 |
benign |
NM_016360.4(TACO1):c.693+60T>C |
single nucleotide variant |
not provided [RCV000836239] |
Chr17:63607524 [GRCh38] Chr17:61684884 [GRCh37] Chr17:17q23.3 |
benign |
NM_016360.4(TACO1):c.281-45A>C |
single nucleotide variant |
not provided [RCV000832991] |
Chr17:63604489 [GRCh38] Chr17:61681849 [GRCh37] Chr17:17q23.3 |
benign |
NM_016360.4(TACO1):c.281-177C>T |
single nucleotide variant |
not provided [RCV000844329] |
Chr17:63604357 [GRCh38] Chr17:61681717 [GRCh37] Chr17:17q23.3 |
benign |
NM_016360.4(TACO1):c.538C>T (p.Arg180Cys) |
single nucleotide variant |
not provided [RCV000919601] |
Chr17:63607309 [GRCh38] Chr17:61684669 [GRCh37] Chr17:17q23.3 |
likely benign |
GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 |
copy number gain |
not provided [RCV000845965] |
Chr17:57869604..67078443 [GRCh37] Chr17:17q23.1-24.2 |
pathogenic |
NM_016360.4(TACO1):c.515+51A>G |
single nucleotide variant |
not provided [RCV001551080] |
Chr17:63606491 [GRCh38] Chr17:61683851 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.280+42T>A |
single nucleotide variant |
not provided [RCV001551573] |
Chr17:63601405 [GRCh38] Chr17:61678764 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.618C>T (p.Ala206=) |
single nucleotide variant |
TACO1-related disorder [RCV003941054]|not provided [RCV001651534] |
Chr17:63607389 [GRCh38] Chr17:61684749 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.281-10del |
deletion |
not provided [RCV001718522] |
Chr17:63604522 [GRCh38] Chr17:61681882 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.887T>C (p.Ile296Thr) |
single nucleotide variant |
not provided [RCV000909595] |
Chr17:63607995 [GRCh38] Chr17:61685355 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.66C>T (p.Pro22=) |
single nucleotide variant |
Mitochondrial complex 4 deficiency, nuclear type 8 [RCV002495506]|not provided [RCV000912035] |
Chr17:63601149 [GRCh38] Chr17:61678508 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.97del (p.Arg33fs) |
deletion |
not provided [RCV001009317] |
Chr17:63601176 [GRCh38] Chr17:61678535 [GRCh37] Chr17:17q23.3 |
likely pathogenic |
NM_016360.4(TACO1):c.-168A>G |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV001128507] |
Chr17:63600916 [GRCh38] Chr17:61678275 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.874G>A (p.Val292Ile) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV001122805] |
Chr17:63607982 [GRCh38] Chr17:61685342 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.280+231G>A |
single nucleotide variant |
not provided [RCV001575235] |
Chr17:63601594 [GRCh38] Chr17:61678953 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.387+80A>T |
single nucleotide variant |
not provided [RCV001533989] |
Chr17:63604720 [GRCh38] Chr17:61682080 [GRCh37] Chr17:17q23.3 |
benign |
NM_016360.4(TACO1):c.280+258G>A |
single nucleotide variant |
not provided [RCV001548621] |
Chr17:63601621 [GRCh38] Chr17:61678980 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.*29C>T |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV001123893] |
Chr17:63608031 [GRCh38] Chr17:61685391 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.*251A>G |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV001123894] |
Chr17:63608253 [GRCh38] Chr17:61685613 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.*343C>T |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV001123895]|not provided [RCV004706025] |
Chr17:63608345 [GRCh38] Chr17:61685705 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.583del (p.Asp195fs) |
deletion |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV001198040] |
Chr17:63607353 [GRCh38] Chr17:61684713 [GRCh37] Chr17:17q23.3 |
likely pathogenic |
NM_016360.4(TACO1):c.638C>A (p.Ala213Glu) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV001122803] |
Chr17:63607409 [GRCh38] Chr17:61684769 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.421C>T (p.Arg141Ter) |
single nucleotide variant |
Mitochondrial complex 4 deficiency, nuclear type 8 [RCV001261889]|not provided [RCV002537625] |
Chr17:63606346 [GRCh38] Chr17:61683706 [GRCh37] Chr17:17q23.3 |
pathogenic |
NM_016360.4(TACO1):c.252_253del (p.Cys85fs) |
microsatellite |
not provided [RCV001268525] |
Chr17:63601333..63601334 [GRCh38] Chr17:61678692..61678693 [GRCh37] Chr17:17q23.3 |
likely pathogenic |
NM_016360.4(TACO1):c.476A>G (p.Lys159Arg) |
single nucleotide variant |
Mitochondrial complex 4 deficiency, nuclear type 8 [RCV002499651]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001330728] |
Chr17:63606401 [GRCh38] Chr17:61683761 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.97dup (p.Arg33fs) |
duplication |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV001335814] |
Chr17:63601175..63601176 [GRCh38] Chr17:61678534..61678535 [GRCh37] Chr17:17q23.3 |
pathogenic |
NM_016360.4(TACO1):c.856C>T (p.His286Tyr) |
single nucleotide variant |
not provided [RCV002039492] |
Chr17:63607964 [GRCh38] Chr17:61685324 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.559G>T (p.Gly187Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002552931]|not provided [RCV001871423] |
Chr17:63607330 [GRCh38] Chr17:61684690 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.67G>A (p.Gly23Arg) |
single nucleotide variant |
not provided [RCV001985384] |
Chr17:63601150 [GRCh38] Chr17:61678509 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.73A>G (p.Arg25Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004671559]|not provided [RCV001981322] |
Chr17:63601156 [GRCh38] Chr17:61678515 [GRCh37] Chr17:17q23.3 |
likely benign|uncertain significance |
NM_016360.4(TACO1):c.448A>G (p.Ile150Val) |
single nucleotide variant |
Mitochondrial complex 4 deficiency, nuclear type 8 [RCV002479791]|not provided [RCV002029671] |
Chr17:63606373 [GRCh38] Chr17:61683733 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.452A>C (p.Glu151Ala) |
single nucleotide variant |
not provided [RCV001938693] |
Chr17:63606377 [GRCh38] Chr17:61683737 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.685G>A (p.Val229Ile) |
single nucleotide variant |
Mitochondrial complex 4 deficiency, nuclear type 8 [RCV002506980]|not provided [RCV001884908] |
Chr17:63607456 [GRCh38] Chr17:61684816 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.847C>G (p.Leu283Val) |
single nucleotide variant |
Mitochondrial complex 4 deficiency, nuclear type 8 [RCV002490101]|not provided [RCV001886194] |
Chr17:63607955 [GRCh38] Chr17:61685315 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NC_000017.10:g.(?_61681874)_(61685362_?)dup |
duplication |
not provided [RCV001923045] |
Chr17:61681874..61685362 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.156T>C (p.Phe52=) |
single nucleotide variant |
not provided [RCV002090297] |
Chr17:63601239 [GRCh38] Chr17:61678598 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.451G>A (p.Glu151Lys) |
single nucleotide variant |
not provided [RCV002170333] |
Chr17:63606376 [GRCh38] Chr17:61683736 [GRCh37] Chr17:17q23.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_016360.4(TACO1):c.132C>A (p.Ala44=) |
single nucleotide variant |
TACO1-related disorder [RCV003895825]|not provided [RCV002141649] |
Chr17:63601215 [GRCh38] Chr17:61678574 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.813C>T (p.Pro271=) |
single nucleotide variant |
not provided [RCV002135698] |
Chr17:63607921 [GRCh38] Chr17:61685281 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.280+1G>C |
single nucleotide variant |
Mitochondrial complex 4 deficiency, nuclear type 8 [RCV003150924]|not provided [RCV003548991] |
Chr17:63601364 [GRCh38] Chr17:61678723 [GRCh37] Chr17:17q23.3 |
pathogenic|likely pathogenic |
NM_016360.4(TACO1):c.394A>G (p.Lys132Glu) |
single nucleotide variant |
not provided [RCV002681441] |
Chr17:63606319 [GRCh38] Chr17:61683679 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.353C>T (p.Pro118Leu) |
single nucleotide variant |
not provided [RCV002511282] |
Chr17:63604606 [GRCh38] Chr17:61681966 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.75G>C (p.Arg25Ser) |
single nucleotide variant |
not provided [RCV003013300] |
Chr17:63601158 [GRCh38] Chr17:61678517 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.107A>C (p.His36Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002989844] |
Chr17:63601190 [GRCh38] Chr17:61678549 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.424G>A (p.Gly142Ser) |
single nucleotide variant |
not provided [RCV003074074] |
Chr17:63606349 [GRCh38] Chr17:61683709 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.265C>T (p.Arg89Cys) |
single nucleotide variant |
not provided [RCV003074590] |
Chr17:63601348 [GRCh38] Chr17:61678707 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.613C>T (p.Arg205Cys) |
single nucleotide variant |
not provided [RCV003075805] |
Chr17:63607384 [GRCh38] Chr17:61684744 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.539G>A (p.Arg180His) |
single nucleotide variant |
Inborn genetic diseases [RCV002821290] |
Chr17:63607310 [GRCh38] Chr17:61684670 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.127G>A (p.Gly43Ser) |
single nucleotide variant |
not provided [RCV002695407] |
Chr17:63601210 [GRCh38] Chr17:61678569 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.99G>A (p.Arg33=) |
single nucleotide variant |
not provided [RCV002870676] |
Chr17:63601182 [GRCh38] Chr17:61678541 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.830C>T (p.Ala277Val) |
single nucleotide variant |
not provided [RCV002801339] |
Chr17:63607938 [GRCh38] Chr17:61685298 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.839T>C (p.Ile280Thr) |
single nucleotide variant |
not provided [RCV002667359] |
Chr17:63607947 [GRCh38] Chr17:61685307 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.388-19C>T |
single nucleotide variant |
not provided [RCV002667421] |
Chr17:63606294 [GRCh38] Chr17:61683654 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.175G>A (p.Gly59Arg) |
single nucleotide variant |
not provided [RCV003042674] |
Chr17:63601258 [GRCh38] Chr17:61678617 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.452A>G (p.Glu151Gly) |
single nucleotide variant |
not provided [RCV002642296] |
Chr17:63606377 [GRCh38] Chr17:61683737 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.388-12T>C |
single nucleotide variant |
not provided [RCV003042043] |
Chr17:63606301 [GRCh38] Chr17:61683661 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.559G>C (p.Gly187Arg) |
single nucleotide variant |
not provided [RCV002599846] |
Chr17:63607330 [GRCh38] Chr17:61684690 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.206T>A (p.Ile69Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002835579] |
Chr17:63601289 [GRCh38] Chr17:61678648 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.660A>C (p.Glu220Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002652152] |
Chr17:63607431 [GRCh38] Chr17:61684791 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.811C>T (p.Pro271Ser) |
single nucleotide variant |
not provided [RCV002627744] |
Chr17:63607919 [GRCh38] Chr17:61685279 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.828C>T (p.Ala276=) |
single nucleotide variant |
not provided [RCV003091426] |
Chr17:63607936 [GRCh38] Chr17:61685296 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.53T>C (p.Leu18Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002747096] |
Chr17:63601136 [GRCh38] Chr17:61678495 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.283G>A (p.Gly95Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004681495]|not provided [RCV002576611] |
Chr17:63604536 [GRCh38] Chr17:61681896 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.347A>G (p.His116Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002959805] |
Chr17:63604600 [GRCh38] Chr17:61681960 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.246C>T (p.Ser82=) |
single nucleotide variant |
not provided [RCV002672253] |
Chr17:63601329 [GRCh38] Chr17:61678688 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.180C>A (p.His60Gln) |
single nucleotide variant |
not provided [RCV002943795] |
Chr17:63601263 [GRCh38] Chr17:61678622 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.634G>A (p.Glu212Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003202942] |
Chr17:63607405 [GRCh38] Chr17:61684765 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.814G>A (p.Asp272Asn) |
single nucleotide variant |
Mitochondrial complex 4 deficiency, nuclear type 8 [RCV003140846] |
Chr17:63607922 [GRCh38] Chr17:61685282 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.693+4A>G |
single nucleotide variant |
Mitochondrial complex 4 deficiency, nuclear type 8 [RCV003140847] |
Chr17:63607468 [GRCh38] Chr17:61684828 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.208A>G (p.Lys70Glu) |
single nucleotide variant |
not provided [RCV003228351] |
Chr17:63601291 [GRCh38] Chr17:61678650 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.42C>G (p.Ala14=) |
single nucleotide variant |
not provided [RCV003428402] |
Chr17:63601125 [GRCh38] Chr17:61678484 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.460T>C (p.Ser154Pro) |
single nucleotide variant |
not provided [RCV003421415] |
Chr17:63606385 [GRCh38] Chr17:61683745 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.894A>G (p.Ter298=) |
single nucleotide variant |
not provided [RCV003549433] |
Chr17:63608002 [GRCh38] Chr17:61685362 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.858C>T (p.His286=) |
single nucleotide variant |
not provided [RCV003839951] |
Chr17:63607966 [GRCh38] Chr17:61685326 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.684C>T (p.Asn228=) |
single nucleotide variant |
not provided [RCV003856858] |
Chr17:63607455 [GRCh38] Chr17:61684815 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.408G>A (p.Leu136=) |
single nucleotide variant |
not provided [RCV003675397] |
Chr17:63606333 [GRCh38] Chr17:61683693 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.255_258del (p.Leu84_Cys85insTer) |
deletion |
Mitochondrial complex 4 deficiency, nuclear type 8 [RCV003989050] |
Chr17:63601336..63601339 [GRCh38] Chr17:61678695..61678698 [GRCh37] Chr17:17q23.3 |
likely pathogenic |
GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3 |
copy number gain |
See cases [RCV004442795] |
Chr17:58596397..62540700 [GRCh37] Chr17:17q23.2-23.3 |
uncertain significance |
NM_016360.4(TACO1):c.252C>G (p.Leu84=) |
single nucleotide variant |
not provided [RCV003884220] |
Chr17:63601335 [GRCh38] Chr17:61678694 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.354C>T (p.Pro118=) |
single nucleotide variant |
TACO1-related disorder [RCV003904197] |
Chr17:63604607 [GRCh38] Chr17:61681967 [GRCh37] Chr17:17q23.3 |
likely benign |
NM_016360.4(TACO1):c.17C>T (p.Ala6Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004466246] |
Chr17:63601100 [GRCh38] Chr17:61678459 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.337C>T (p.Arg113Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004466247] |
Chr17:63604590 [GRCh38] Chr17:61681950 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.91G>A (p.Asp31Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004466250] |
Chr17:63601174 [GRCh38] Chr17:61678533 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.450C>G (p.Ile150Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004466248] |
Chr17:63606375 [GRCh38] Chr17:61683735 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.862G>T (p.Asp288Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004466249] |
Chr17:63607970 [GRCh38] Chr17:61685330 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.76G>C (p.Ala26Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004671065] |
Chr17:63601159 [GRCh38] Chr17:61678518 [GRCh37] Chr17:17q23.3 |
uncertain significance |
NM_016360.4(TACO1):c.466A>G (p.Ser156Gly) |
single nucleotide variant |
not provided [RCV004763048] |
|
uncertain significance |