| NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000029171]|not provided [RCV000283338] |
ChrX:154420676 [GRCh38]
ChrX:153649015 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.110-17= |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000030474]|not specified [RCV000245792] |
ChrX:154412069 [GRCh38]
ChrX:153640406 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_000116.5(TAFAZZIN):c.239-1G>A |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000011849] |
ChrX:154413206 [GRCh38]
ChrX:153641543 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000011850]|not provided [RCV001091834] |
ChrX:154412129 [GRCh38]
ChrX:153640466 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.239-1G>C |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000011851] |
ChrX:154413206 [GRCh38]
ChrX:153641543 [GRCh37]
ChrX:Xq28 |
pathogenic |
| TAZ, 1-BP INS, NT868 |
insertion |
3-Methylglutaconic aciduria type 2 [RCV000011852] |
ChrX:Xq28 |
pathogenic |
| TAZ, 1-BP DEL |
deletion |
3-Methylglutaconic aciduria type 2 [RCV000011853] |
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000011854] |
ChrX:154420037 [GRCh38]
ChrX:153648376 [GRCh37]
ChrX:Xq28 |
pathogenic |
| TAZ, IVS1DS, G-C, +5 |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000011855] |
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.284+110G>A |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000011856] |
ChrX:154413362 [GRCh38]
ChrX:153641699 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000011857] |
ChrX:154413549 [GRCh38]
ChrX:153641886 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.110-2A>G |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000011858] |
ChrX:154412084 [GRCh38]
ChrX:153640421 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000011859] |
ChrX:154413248 [GRCh38]
ChrX:153641585 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs) |
deletion |
3-Methylglutaconic aciduria type 2 [RCV000011860] |
ChrX:154420051..154420054 [GRCh38]
ChrX:153648390..153648393 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.647-1G>C |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000011861] |
ChrX:154420211 [GRCh38]
ChrX:153648550 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000542068] |
ChrX:154420726 [GRCh38]
ChrX:153649065 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.109+28C>T |
single nucleotide variant |
not specified [RCV000035085] |
ChrX:154411980 [GRCh38]
ChrX:153640317 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001340612]|not provided [RCV000766522]|not specified [RCV000035086] |
ChrX:154411856 [GRCh38]
ChrX:153640193 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000035087] |
ChrX:154412184 [GRCh38]
ChrX:153640521 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000035088] |
ChrX:154413525 [GRCh38]
ChrX:153641862 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000035089] |
ChrX:154413504 [GRCh38]
ChrX:153641841 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000035090] |
ChrX:154413507 [GRCh38]
ChrX:153641844 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.371-13C>G |
single nucleotide variant |
not specified [RCV000035091] |
ChrX:154414088 [GRCh38]
ChrX:153642425 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000233298]|Cardiomyopathy, left ventricular noncompaction [RCV000347300]|Cardiovascular phenotype [RCV000245160]|Endocardial fibroelastosis [RCV000339020]|Primary dilated cardiomyopathy [RCV000289824]|not provided [RCV000224909]|not specified [RCV000035092] |
ChrX:154414113 [GRCh38]
ChrX:153642450 [GRCh37]
ChrX:Xq28 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) |
single nucleotide variant |
not specified [RCV000035093] |
ChrX:154411891 [GRCh38]
ChrX:153640228 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000263467]|Cardiomyopathy, left ventricular noncompaction [RCV000313028]|Endocardial fibroelastosis [RCV000297570]|Primary dilated cardiomyopathy [RCV000356145]|not specified [RCV000035094] |
ChrX:154419617 [GRCh38]
ChrX:153647956 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.583+10G>A |
single nucleotide variant |
not specified [RCV000035095] |
ChrX:154419756 [GRCh38]
ChrX:153648095 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.584-7T>C |
single nucleotide variant |
not specified [RCV000035096] |
ChrX:154420025 [GRCh38]
ChrX:153648364 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000035097] |
ChrX:154420038 [GRCh38]
ChrX:153648377 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.700-1G>A |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000035098] |
ChrX:154420657 [GRCh38]
ChrX:153648996 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_000116.5(TAFAZZIN):c.718G>C (p.Gly240Arg) |
single nucleotide variant |
Primary dilated cardiomyopathy [RCV000035099] |
ChrX:154420676 [GRCh38]
ChrX:153649015 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.752G>T (p.Arg251Leu) |
single nucleotide variant |
not specified [RCV000035100] |
ChrX:154420710 [GRCh38]
ChrX:153649049 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.778-24_778-7delinsA |
indel |
not specified [RCV000035101] |
ChrX:154420879..154420896 [GRCh38]
ChrX:153649218..153649235 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) |
single nucleotide variant |
Primary dilated cardiomyopathy [RCV000035102] |
ChrX:154420948 [GRCh38]
ChrX:153649287 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000288304]|Cardiomyopathy, left ventricular noncompaction [RCV000266172]|Cardiovascular phenotype [RCV000251950]|Endocardial fibroelastosis [RCV000385200]|Primary dilated cardiomyopathy [RCV000328398]|not provided [RCV000857893]|not specified [RCV000035103] |
ChrX:154420998 [GRCh38]
ChrX:153649337 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 |
copy number gain |
See cases [RCV000050889] |
ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 |
copy number gain |
See cases [RCV000050946] |
ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 |
copy number gain |
See cases [RCV000050810] |
ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 |
copy number loss |
See cases [RCV000050811] |
ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000050699] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 |
copy number gain |
See cases [RCV000050657] |
ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
Global developmental delay [RCV000050386]|See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000050697] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 |
copy number loss |
See cases [RCV000051160] |
ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] |
ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 |
copy number loss |
See cases [RCV000051750] |
ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 |
copy number loss |
See cases [RCV000051665] |
ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 |
copy number loss |
See cases [RCV000051666] |
ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 |
copy number loss |
See cases [RCV000051728] |
ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 |
copy number loss |
See cases [RCV000051729] |
ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 |
copy number loss |
See cases [RCV000051713] |
ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28 |
pathogenic |
| GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 |
copy number loss |
See cases [RCV000051732] |
ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:154394598-154554969)x1 |
copy number loss |
See cases [RCV000051760] |
ChrX:154394598..154554969 [GRCh38]
ChrX:153622940..153783184 [GRCh37]
ChrX:153276134..153436378 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] |
ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 |
copy number gain |
See cases [RCV000052322] |
ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 |
copy number gain |
See cases [RCV000052359] |
ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] |
ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 |
copy number gain |
See cases [RCV000052324] |
ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 |
copy number gain |
See cases [RCV000052325] |
ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 |
copy number gain |
See cases [RCV000052529] |
ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] |
ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 |
copy number gain |
See cases [RCV000052491] |
ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 |
copy number gain |
See cases [RCV000052445] |
ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 |
copy number gain |
See cases [RCV000052471] |
ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 |
copy number gain |
See cases [RCV000052474] |
ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 |
copy number gain |
See cases [RCV000052475] |
ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] |
ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:154336596-154642063)x2 |
copy number gain |
See cases [RCV000054320] |
ChrX:154336596..154642063 [GRCh38]
ChrX:153564946..153870337 [GRCh37]
ChrX:153218140..153523531 [NCBI36]
ChrX:Xq28 |
uncertain significance |
| GRCh38/hg38 Xq28(chrX:154348522-154594454)x2 |
copy number gain |
See cases [RCV000054321] |
ChrX:154348522..154594454 [GRCh38]
ChrX:153576890..153822717 [GRCh37]
ChrX:153230084..153475911 [NCBI36]
ChrX:Xq28 |
uncertain significance |
| GRCh38/hg38 Xq28(chrX:154394598-154626056)x2 |
copy number gain |
See cases [RCV000054322] |
ChrX:154394598..154626056 [GRCh38]
ChrX:153622940..153854307 [GRCh37]
ChrX:153276134..153507501 [NCBI36]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 |
copy number loss |
See cases [RCV000663390] |
ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.542-20C>T |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000609016]|not specified [RCV000128358] |
ChrX:154419685 [GRCh38]
ChrX:153648024 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=) |
single nucleotide variant |
not specified [RCV000128359] |
ChrX:154420082 [GRCh38]
ChrX:153648421 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_000116.5(TAFAZZIN):c.646+14C>T |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001168940]|Endocardial fibroelastosis [RCV001166048]|Primary dilated cardiomyopathy [RCV001166047]|not specified [RCV000155815] |
ChrX:154420108 [GRCh38]
ChrX:153648447 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 |
copy number gain |
See cases [RCV000133654] |
ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001306287] |
ChrX:154412186 [GRCh38]
ChrX:153640523 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 |
copy number loss |
See cases [RCV000133818] |
ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 |
copy number loss |
See cases [RCV000133792] |
ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 |
copy number gain |
See cases [RCV000133725] |
ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 |
copy number gain |
See cases [RCV000133744] |
ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 |
copy number gain |
See cases [RCV000134564] |
ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 |
copy number loss |
See cases [RCV000134570] |
ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 |
copy number loss |
See cases [RCV000133947] |
ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 |
copy number gain |
See cases [RCV000134025] |
ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 |
copy number gain |
See cases [RCV000133911] |
ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
| GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 |
copy number loss |
See cases [RCV000135300] |
ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 |
copy number loss |
See cases [RCV000135321] |
ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 |
copy number loss |
See cases [RCV000135307] |
ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28 |
pathogenic |
| GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 |
copy number loss |
See cases [RCV000134958] |
ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 |
copy number loss |
See cases [RCV000134947] |
ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 |
copy number loss |
See cases [RCV000135552] |
ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 |
copy number gain |
See cases [RCV000135451] |
ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 |
copy number loss |
See cases [RCV000135454] |
ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 |
copy number loss |
See cases [RCV000136097] |
ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 |
copy number loss |
See cases [RCV000136478] |
ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 |
copy number gain |
See cases [RCV000136552] |
ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 |
copy number gain |
See cases [RCV000136030] |
ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 |
copy number loss |
See cases [RCV000136095] |
ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 |
copy number loss |
See cases [RCV000136005] |
ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 |
copy number gain |
See cases [RCV000135881] |
ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 |
copy number loss |
See cases [RCV000136083] |
ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 |
copy number loss |
See cases [RCV000136912] |
ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28 |
pathogenic |
| GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 |
copy number loss |
See cases [RCV000137113] |
ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 |
copy number gain |
See cases [RCV000136716] |
ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 |
copy number gain |
See cases [RCV000136841] |
ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 |
copy number gain |
See cases [RCV000136791] |
ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 |
copy number loss |
See cases [RCV000136718] |
ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 |
copy number gain |
See cases [RCV000137498] |
ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 |
copy number loss |
See cases [RCV000137415] |
ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 |
copy number gain |
See cases [RCV000137553] |
ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 |
copy number loss |
See cases [RCV000137138] |
ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 |
copy number loss |
See cases [RCV000137257] |
ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28 |
pathogenic|uncertain significance |
| GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 |
copy number loss |
See cases [RCV000137167] |
ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28 |
pathogenic|uncertain significance |
| GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 |
copy number gain |
See cases [RCV000138020] |
ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28 |
pathogenic |
| GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 |
copy number loss |
See cases [RCV000137887] |
ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28 |
pathogenic |
| GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 |
copy number loss |
See cases [RCV000138679] |
ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 |
copy number loss |
See cases [RCV000138787] |
ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 |
copy number gain |
See cases [RCV000138393] |
ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 |
copy number loss |
See cases [RCV000138541] |
ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 |
copy number loss |
See cases [RCV000139278] |
ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 |
copy number loss |
See cases [RCV000139400] |
ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 |
copy number loss |
See cases [RCV000139351] |
ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28 |
pathogenic|likely benign |
| GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 |
copy number gain |
See cases [RCV000139416] |
ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic|likely benign |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 |
copy number gain |
See cases [RCV000139888] |
ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:154348522-154770053)x2 |
copy number gain |
See cases [RCV000140492] |
ChrX:154348522..154770053 [GRCh38]
ChrX:153576890..153998328 [GRCh37]
ChrX:153230084..153651522 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 |
copy number loss |
See cases [RCV000139724] |
ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 |
copy number gain |
See cases [RCV000141400] |
ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 |
copy number gain |
See cases [RCV000141401] |
ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 |
copy number gain |
See cases [RCV000140786] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 |
copy number loss |
See cases [RCV000140787] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 |
copy number loss |
See cases [RCV000141825] |
ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 |
copy number loss |
See cases [RCV000142016] |
ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28 |
pathogenic |
| GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 |
copy number loss |
See cases [RCV000141743] |
ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 |
copy number loss |
See cases [RCV000142337] |
ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 |
copy number loss |
See cases [RCV000142137] |
ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28 |
pathogenic |
| GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 |
copy number loss |
See cases [RCV000142037] |
ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28 |
pathogenic |
| GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 |
copy number loss |
See cases [RCV000142190] |
ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 |
copy number gain |
See cases [RCV000143002] |
ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 |
copy number loss |
See cases [RCV000142577] |
ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 |
copy number gain |
See cases [RCV000142625] |
ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 |
copy number loss |
See cases [RCV000143424] |
ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28 |
pathogenic |
| GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 |
copy number loss |
See cases [RCV000143349] |
ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 |
copy number loss |
See cases [RCV000143441] |
ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 |
copy number gain |
See cases [RCV000143433] |
ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 |
copy number gain |
See cases [RCV000143219] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 |
copy number loss |
See cases [RCV000143132] |
ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000457435]|not specified [RCV000154416] |
ChrX:154420222 [GRCh38]
ChrX:153648561 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000154422] |
ChrX:154413544 [GRCh38]
ChrX:153641881 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.-17C>T |
single nucleotide variant |
not specified [RCV000154436] |
ChrX:154411827 [GRCh38]
ChrX:153640164 [GRCh37]
ChrX:Xq28 |
likely benign |
| NC_000023.10:g.(?_153640181)_(153641904_?)del |
deletion |
3-Methylglutaconic aciduria type 2 [RCV000154557] |
ChrX:153640181..153641904 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.708_709TG[1] (p.Val237fs) |
microsatellite |
3-Methylglutaconic aciduria type 2 [RCV000154564] |
ChrX:154420666..154420667 [GRCh38]
ChrX:153649005..153649006 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000154666] |
ChrX:154420212 [GRCh38]
ChrX:153648551 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000705533]|not specified [RCV000151966] |
ChrX:154413528 [GRCh38]
ChrX:153641865 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001327792]|not specified [RCV000151967] |
ChrX:154414149 [GRCh38]
ChrX:153642486 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000148141] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000148135] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 |
copy number gain |
See cases [RCV000240106] |
ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.154G>T (p.Glu52Ter) |
single nucleotide variant |
not provided [RCV000183906] |
ChrX:154412130 [GRCh38]
ChrX:153640467 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) |
single nucleotide variant |
not provided [RCV000183907] |
ChrX:154413248 [GRCh38]
ChrX:153641585 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter) |
single nucleotide variant |
not provided [RCV000183908] |
ChrX:154419745 [GRCh38]
ChrX:153648084 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000819578]|not provided [RCV000183909] |
ChrX:154420239 [GRCh38]
ChrX:153648578 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000637295]|not provided [RCV000183910]|not specified [RCV000609126] |
ChrX:154420709 [GRCh38]
ChrX:153649048 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000817139]|not provided [RCV000183911] |
ChrX:154420721 [GRCh38]
ChrX:153649060 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001230858]|not provided [RCV000183912] |
ChrX:154420904 [GRCh38]
ChrX:153649243 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.4(TAZ):c.747_748delCGinsA (p.Glu250Serfs) |
indel |
not provided [RCV000183913] |
ChrX:154420705..154420706 [GRCh38]
ChrX:153649044..153649045 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg) |
single nucleotide variant |
not provided [RCV000183914] |
ChrX:154412206 [GRCh38]
ChrX:153640543 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.526C>T (p.His176Tyr) |
single nucleotide variant |
not provided [RCV000183915] |
ChrX:154419608 [GRCh38]
ChrX:153647947 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 |
copy number gain |
See cases [RCV000240143] |
ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 |
copy number gain |
See cases [RCV000239798] |
ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 |
copy number loss |
See cases [RCV000239832] |
ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.584-7del |
deletion |
3-Methylglutaconic aciduria type 2 [RCV000206800] |
ChrX:154420025 [GRCh38]
ChrX:153648364 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.700-5C>T |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000927936]|Primary familial hypertrophic cardiomyopathy [RCV000208291] |
ChrX:154420653 [GRCh38]
ChrX:153648992 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe) |
single nucleotide variant |
not provided [RCV000220408] |
ChrX:154420975 [GRCh38]
ChrX:153649314 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.778-2A>G |
single nucleotide variant |
not provided [RCV000216377] |
ChrX:154420901 [GRCh38]
ChrX:153649240 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000695963]|Cardiomyopathy [RCV000769551]|not provided [RCV000216620] |
ChrX:154420716 [GRCh38]
ChrX:153649055 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.461-2A>G |
single nucleotide variant |
not provided [RCV000216671] |
ChrX:154419541 [GRCh38]
ChrX:153647880 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.572G>A (p.Arg191His) |
single nucleotide variant |
not provided [RCV000216922] |
ChrX:154419735 [GRCh38]
ChrX:153648074 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.460+1G>A |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000226995]|not provided [RCV000658043] |
ChrX:154414191 [GRCh38]
ChrX:153642528 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000230434] |
ChrX:154412203 [GRCh38]
ChrX:153640540 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000230961] |
ChrX:154419746 [GRCh38]
ChrX:153648085 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 |
copy number gain |
See cases [RCV000511307] |
ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 |
copy number loss |
See cases [RCV000446026] |
ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153627408-154089925)x2 |
copy number gain |
See cases [RCV000240046] |
ChrX:153627408..154089925 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 |
copy number gain |
See cases [RCV000239843] |
ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 |
copy number gain |
See cases [RCV000239934] |
ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 |
copy number loss |
See cases [RCV000239902] |
ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 |
copy number gain |
See cases [RCV000239989] |
ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.145del (p.Val49fs) |
deletion |
Cardiovascular phenotype [RCV000620932] |
ChrX:154412120 [GRCh38]
ChrX:153640457 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 |
copy number gain |
See cases [RCV000240552] |
ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 |
copy number gain |
See cases [RCV000240314] |
ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 |
copy number gain |
See cases [RCV000240464] |
ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 |
copy number gain |
See cases [RCV000240530] |
ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 |
copy number gain |
See cases [RCV000240148] |
ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 |
copy number loss |
See cases [RCV000240337] |
ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 |
copy number gain |
See cases [RCV000240541] |
ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.*560G>A |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000271777]|Cardiomyopathy, left ventricular noncompaction [RCV000359030]|Endocardial fibroelastosis [RCV000329136]|Primary dilated cardiomyopathy [RCV000362827] |
ChrX:154421564 [GRCh38]
ChrX:153649903 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000395947]|Cardiomyopathy, left ventricular noncompaction [RCV000307696]|Endocardial fibroelastosis [RCV000402701]|Primary dilated cardiomyopathy [RCV000350806]|not provided [RCV000841319] |
ChrX:154419586 [GRCh38]
ChrX:153647925 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000116.5(TAZ):c.-119= |
deletion |
3-Methylglutaconic aciduria type 2 [RCV000367327]|Cardiomyopathy, left ventricular noncompaction [RCV000275048]|Dilated cardiomyopathy 3B [RCV000375201]|Endocardial fibroelastosis [RCV000318438] |
ChrX:154411725 [GRCh38]
ChrX:153640062 [GRCh37]
ChrX:Xq28 |
benign |
| NM_000116.5(TAFAZZIN):c.*396C>T |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000395034]|Cardiomyopathy, left ventricular noncompaction [RCV000404306]|Endocardial fibroelastosis [RCV000280388]|Primary dilated cardiomyopathy [RCV000337834] |
ChrX:154421400 [GRCh38]
ChrX:153649739 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_000116.5(TAFAZZIN):c.*387C>T |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000388574]|Cardiomyopathy, left ventricular noncompaction [RCV000348366]|Endocardial fibroelastosis [RCV000326983]|Primary dilated cardiomyopathy [RCV000296655] |
ChrX:154421391 [GRCh38]
ChrX:153649730 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.-88G>C |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000378751]|Cardiomyopathy, left ventricular noncompaction [RCV000286363]|Endocardial fibroelastosis [RCV000317169]|Primary dilated cardiomyopathy [RCV000259528] |
ChrX:154411756 [GRCh38]
ChrX:153640093 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_000116.5(TAFAZZIN):c.*470= |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000298181]|Cardiomyopathy, left ventricular noncompaction [RCV000360069]|Endocardial fibroelastosis [RCV000395030]|Primary dilated cardiomyopathy [RCV000301850] |
ChrX:154421474 [GRCh38]
ChrX:153649813 [GRCh37]
ChrX:Xq28 |
benign |
| NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000358603]|Cardiomyopathy [RCV000770597]|Cardiomyopathy, left ventricular noncompaction [RCV000354693]|Endocardial fibroelastosis [RCV000324398]|Primary dilated cardiomyopathy [RCV000266883]|not specified [RCV000606657] |
ChrX:154420240 [GRCh38]
ChrX:153648579 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000116.5(TAFAZZIN):c.794C>T (p.Ala265Val) |
single nucleotide variant |
not provided [RCV000523892] |
ChrX:154420919 [GRCh38]
ChrX:153649258 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000816124]|not provided [RCV000489828] |
ChrX:154420094 [GRCh38]
ChrX:153648433 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000637296] |
ChrX:154412214 [GRCh38]
ChrX:153640551 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001078968]|Endocardial fibroelastosis [RCV001167616]|Primary dilated cardiomyopathy [RCV001167617]|not provided [RCV000521921] |
ChrX:154420719 [GRCh38]
ChrX:153649058 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000116.5(TAFAZZIN):c.542-3C>G |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000578250] |
ChrX:154419702 [GRCh38]
ChrX:153648041 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.461-16G>C |
single nucleotide variant |
not specified [RCV000601633] |
ChrX:154419527 [GRCh38]
ChrX:153647866 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.639G>A (p.Trp213Ter) |
single nucleotide variant |
not provided [RCV000598838] |
ChrX:154420087 [GRCh38]
ChrX:153648426 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.487dup (p.Asp163fs) |
duplication |
not provided [RCV000599372] |
ChrX:154419567..154419568 [GRCh38]
ChrX:153647906..153647907 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000637300] |
ChrX:154420076 [GRCh38]
ChrX:153648415 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.699+1G>A |
single nucleotide variant |
not provided [RCV000414633] |
ChrX:154420265 [GRCh38]
ChrX:153648604 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs) |
deletion |
3-Methylglutaconic aciduria type 2 [RCV000531914] |
ChrX:154420708..154420717 [GRCh38]
ChrX:153649047..153649056 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.284+3G>C |
single nucleotide variant |
not provided [RCV000731844] |
ChrX:154413255 [GRCh38]
ChrX:153641592 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 |
copy number gain |
See cases [RCV000449437] |
ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
See cases [RCV000449330] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) |
copy number loss |
See cases [RCV000449461] |
ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 |
copy number loss |
See cases [RCV000449365] |
ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28 |
pathogenic |
| GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 |
copy number gain |
See cases [RCV000446471] |
ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 |
copy number loss |
See cases [RCV000446712] |
ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 |
copy number loss |
See cases [RCV000446197] |
ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 |
copy number gain |
See cases [RCV000446270] |
ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 |
copy number loss |
See cases [RCV000446667] |
ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 |
copy number gain |
See cases [RCV000447331] |
ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 |
copy number loss |
See cases [RCV000447490] |
ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28 |
pathogenic |
| GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 |
copy number gain |
See cases [RCV000446151] |
ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
See cases [RCV000446932] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 |
copy number gain |
See cases [RCV000446310] |
ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 |
copy number loss |
See cases [RCV000446761] |
ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 |
copy number gain |
See cases [RCV000447253] |
ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.231T>C (p.His77=) |
single nucleotide variant |
not specified [RCV000434764] |
ChrX:154412207 [GRCh38]
ChrX:153640544 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.321G>A (p.Glu107=) |
single nucleotide variant |
not specified [RCV000418976] |
ChrX:154413518 [GRCh38]
ChrX:153641855 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.-37C>T |
single nucleotide variant |
not specified [RCV000442950] |
ChrX:154411807 [GRCh38]
ChrX:153640144 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 |
copy number loss |
See cases [RCV000445891] |
ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.110-6C>T |
single nucleotide variant |
Cardiomyopathy [RCV000770594]|not provided [RCV000950984]|not specified [RCV000426844] |
ChrX:154412080 [GRCh38]
ChrX:153640417 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_000116.5(TAFAZZIN):c.594C>A (p.Arg198=) |
single nucleotide variant |
not specified [RCV000437589] |
ChrX:154420042 [GRCh38]
ChrX:153648381 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 |
copy number loss |
See cases [RCV000448724] |
ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
See cases [RCV000448393] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 |
copy number gain |
See cases [RCV000448034] |
ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 |
copy number loss |
See cases [RCV000448652] |
ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 |
copy number loss |
See cases [RCV000448865] |
ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.421_424GGCA[1] (p.Arg142fs) |
microsatellite |
3-Methylglutaconic aciduria type 2 [RCV001043342]|not provided [RCV000482188] |
ChrX:154414149..154414152 [GRCh38]
ChrX:153642486..153642489 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000471301] |
ChrX:154413249 [GRCh38]
ChrX:153641586 [GRCh37]
ChrX:Xq28 |
pathogenic|uncertain significance |
| NM_000116.5(TAFAZZIN):c.123C>T (p.His41=) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000474914] |
ChrX:154412099 [GRCh38]
ChrX:153640436 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=) |
single nucleotide variant |
not provided [RCV000472088] |
ChrX:154420225 [GRCh38]
ChrX:153648564 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.239-6del |
deletion |
not specified [RCV000482616] |
ChrX:154413200 [GRCh38]
ChrX:153641537 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 |
copy number gain |
See cases [RCV000510362] |
ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 |
copy number gain |
See cases [RCV000510478] |
ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000611350]|not provided [RCV000523344] |
ChrX:154420915 [GRCh38]
ChrX:153649254 [GRCh37]
ChrX:Xq28 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000116.5(TAFAZZIN):c.325C>T (p.His109Tyr) |
single nucleotide variant |
not provided [RCV000497863] |
ChrX:154413522 [GRCh38]
ChrX:153641859 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs) |
deletion |
3-Methylglutaconic aciduria type 2 [RCV000503128] |
ChrX:154420961 [GRCh38]
ChrX:153649300 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) |
copy number gain |
See cases [RCV000512020] |
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.483del (p.Met162fs) |
deletion |
not specified [RCV000508564] |
ChrX:154419562 [GRCh38]
ChrX:153647901 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 |
copy number gain |
See cases [RCV000511787] |
ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 |
copy number loss |
See cases [RCV000511413] |
ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28 |
pathogenic |
| GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 |
copy number loss |
See cases [RCV000511572] |
ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28 |
pathogenic |
| GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 |
copy number loss |
See cases [RCV000511936] |
ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28 |
pathogenic |
| GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 |
copy number loss |
See cases [RCV000511482] |
ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153418991-153644258)x3 |
copy number gain |
See cases [RCV000511851] |
ChrX:153418991..153644258 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 |
copy number loss |
See cases [RCV000511490] |
ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 |
copy number gain |
See cases [RCV000510826] |
ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 |
copy number loss |
See cases [RCV000511228] |
ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001062495]|Caused by mutation in the tafazzin gene [RCV000496045] |
ChrX:154412130 [GRCh38]
ChrX:153640467 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 |
copy number loss |
See cases [RCV000510820] |
ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 |
copy number loss |
See cases [RCV000510866] |
ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 |
copy number loss |
See cases [RCV000510920] |
ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 |
copy number gain |
See cases [RCV000511034] |
ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000637299] |
ChrX:154420732 [GRCh38]
ChrX:153649071 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq28(chrX:153138672-153665655) |
copy number gain |
Microcytic anemia [RCV000626549] |
ChrX:153138672..153665655 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000605517] |
ChrX:154420705 [GRCh38]
ChrX:153649044 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.680dup (p.Tyr227Ter) |
duplication |
Left ventricular noncompaction [RCV000513310] |
ChrX:154420244..154420245 [GRCh38]
ChrX:153648583..153648584 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.541+3C>G |
single nucleotide variant |
Cardiovascular phenotype [RCV000617747] |
ChrX:154419626 [GRCh38]
ChrX:153647965 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=) |
single nucleotide variant |
not provided [RCV000637298] |
ChrX:154419706 [GRCh38]
ChrX:153648045 [GRCh37]
ChrX:Xq28 |
likely benign |
| NC_000023.10:g.(?_153295726)_(153786885_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] |
ChrX:153295726..153786885 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000637297] |
ChrX:154420926 [GRCh38]
ChrX:153649265 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.371-16G>T |
single nucleotide variant |
not specified [RCV000609693] |
ChrX:154414085 [GRCh38]
ChrX:153642422 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000538576]|not provided [RCV000827408] |
ChrX:154411912 [GRCh38]
ChrX:153640249 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618005] |
ChrX:154420925 [GRCh38]
ChrX:153649264 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.108C>T (p.Thr36=) |
single nucleotide variant |
not specified [RCV000616107] |
ChrX:154411951 [GRCh38]
ChrX:153640288 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=) |
single nucleotide variant |
not specified [RCV000613889] |
ChrX:154420720 [GRCh38]
ChrX:153649059 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=) |
single nucleotide variant |
not specified [RCV000613994] |
ChrX:154412192 [GRCh38]
ChrX:153640529 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000616973] |
ChrX:154420042 [GRCh38]
ChrX:153648381 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 |
copy number gain |
See cases [RCV000512173] |
ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 |
copy number loss |
See cases [RCV000512372] |
ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28 |
pathogenic |
| NC_000023.10:g.153648583dupA |
duplication |
Left ventricular noncompaction [RCV000513310] |
ChrX:153648583 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val) |
single nucleotide variant |
not specified [RCV000600705] |
ChrX:154414137 [GRCh38]
ChrX:153642474 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter) |
single nucleotide variant |
not provided [RCV000676908] |
ChrX:154419746 [GRCh38]
ChrX:153648085 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.207C>G (p.His69Gln) |
single nucleotide variant |
not provided [RCV000676907] |
ChrX:154412183 [GRCh38]
ChrX:153640520 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 |
copy number loss |
not provided [RCV000684386] |
ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 |
copy number loss |
not provided [RCV000684397] |
ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 |
copy number loss |
not provided [RCV000684401] |
ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 |
copy number gain |
not provided [RCV000684402] |
ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153581543-153858492)x2 |
copy number gain |
not provided [RCV000684413] |
ChrX:153581543..153858492 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153621005-153868484)x4 |
copy number gain |
not provided [RCV000684414] |
ChrX:153621005..153868484 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 |
copy number loss |
not provided [RCV000684373] |
ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000678752] |
ChrX:154413564 [GRCh38]
ChrX:153641901 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 |
copy number loss |
not provided [RCV000684357] |
ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28 |
pathogenic |
| GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 |
copy number loss |
not provided [RCV000684363] |
ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153560741-153761134)x2 |
copy number gain |
not provided [RCV000684744] |
ChrX:153560741..153761134 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3 |
copy number gain |
not provided [RCV000684745] |
ChrX:153560741..153858492 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NC_000023.10:g.(?_153579929)_(153649363_?)dup |
duplication |
Periventricular nodular heterotopia 1 [RCV000708327] |
ChrX:153579929..153649363 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.777+6T>C |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000700062] |
ChrX:154420741 [GRCh38]
ChrX:153649080 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000689221] |
ChrX:154413496 [GRCh38]
ChrX:153641833 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000703717] |
ChrX:154420054 [GRCh38]
ChrX:153648393 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.699+5G>A |
single nucleotide variant |
Primary familial dilated cardiomyopathy [RCV000845468] |
ChrX:154420269 [GRCh38]
ChrX:153648608 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 |
copy number loss |
not provided [RCV000753810] |
ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 |
copy number loss |
not provided [RCV000753815] |
ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 |
copy number loss |
not provided [RCV000753556] |
ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| Single allele |
duplication |
Autistic disorder of childhood onset [RCV000754365] |
ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 |
copy number loss |
not provided [RCV000753606] |
ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 |
copy number loss |
not provided [RCV000753271] |
ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 |
copy number gain |
not provided [RCV000753272] |
ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 |
copy number loss |
not provided [RCV000753278] |
ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 |
copy number gain |
not provided [RCV000753276] |
ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 |
copy number loss |
Premature ovarian insufficiency [RCV000852349] |
ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.236_238+5del |
deletion |
3-Methylglutaconic aciduria type 2 [RCV001044975] |
ChrX:154412212..154412219 [GRCh38]
ChrX:153640549..153640556 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=) |
single nucleotide variant |
not provided [RCV000869043] |
ChrX:154419724 [GRCh38]
ChrX:153648063 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=) |
single nucleotide variant |
not provided [RCV000869635] |
ChrX:154419547 [GRCh38]
ChrX:153647886 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=) |
single nucleotide variant |
not provided [RCV000880344] |
ChrX:154420243 [GRCh38]
ChrX:153648582 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001053235] |
ChrX:154420715 [GRCh38]
ChrX:153649054 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000995886] |
ChrX:154412214 [GRCh38]
ChrX:153640551 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.774_777+1dup |
duplication |
not provided [RCV000996073] |
ChrX:154420731..154420732 [GRCh38]
ChrX:153649070..153649071 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001036319] |
ChrX:154413221 [GRCh38]
ChrX:153641558 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001057771] |
ChrX:154414167 [GRCh38]
ChrX:153642504 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.327C>T (p.His109=) |
single nucleotide variant |
Cardiomyopathy [RCV000770595] |
ChrX:154413524 [GRCh38]
ChrX:153641861 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs) |
deletion |
Cardiomyopathy [RCV000770598] |
ChrX:154420249 [GRCh38]
ChrX:153648588 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.371-6C>A |
single nucleotide variant |
Cardiomyopathy [RCV000770596] |
ChrX:154414095 [GRCh38]
ChrX:153642432 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000809073]|not provided [RCV001091835] |
ChrX:154413249 [GRCh38]
ChrX:153641586 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NC_000023.10:g.(?_152954020)_(154096327_?)del |
deletion |
Adrenoleukodystrophy [RCV000815921] |
ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 |
copy number loss |
not provided [RCV000846958] |
ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000876118] |
ChrX:154420989 [GRCh38]
ChrX:153649328 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000863226] |
ChrX:154419730 [GRCh38]
ChrX:153648069 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000864634] |
ChrX:154411922 [GRCh38]
ChrX:153640259 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) |
copy number gain |
not provided [RCV000767679] |
ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000802614] |
ChrX:154419725 [GRCh38]
ChrX:153648064 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_153577207)_(153650075_?)dup |
duplication |
Periventricular nodular heterotopia 1 [RCV000816614] |
ChrX:153577207..153650075 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.238+6C>T |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000818250] |
ChrX:154412220 [GRCh38]
ChrX:153640557 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000802834] |
ChrX:154419739 [GRCh38]
ChrX:153648078 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000797844] |
ChrX:154419551 [GRCh38]
ChrX:153647890 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.238+11C>G |
single nucleotide variant |
not provided [RCV000839831] |
ChrX:154412225 [GRCh38]
ChrX:153640562 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.647-42C>T |
single nucleotide variant |
not provided [RCV000833416] |
ChrX:154420170 [GRCh38]
ChrX:153648509 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000801634] |
ChrX:154414146 [GRCh38]
ChrX:153642483 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000811455] |
ChrX:154420212 [GRCh38]
ChrX:153648551 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.461-46C>T |
single nucleotide variant |
not provided [RCV000834847] |
ChrX:154419497 [GRCh38]
ChrX:153647836 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.238+2_238+9del |
deletion |
3-Methylglutaconic aciduria type 2 [RCV000818455] |
ChrX:154412213..154412220 [GRCh38]
ChrX:153640550..153640557 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000819778] |
ChrX:154420262 [GRCh38]
ChrX:153648601 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 |
copy number loss |
not provided [RCV000846274] |
ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 |
copy number loss |
not provided [RCV000847838] |
ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28 |
pathogenic |
| NC_000023.10:g.(?_152990712)_(153650075_?)del |
deletion |
Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000823256] |
ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.284+4A>T |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000823073] |
ChrX:154413256 [GRCh38]
ChrX:153641593 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001167556]|Endocardial fibroelastosis [RCV001167554]|Primary dilated cardiomyopathy [RCV001167555] |
ChrX:154411892 [GRCh38]
ChrX:153640229 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000791613] |
ChrX:154413567 [GRCh38]
ChrX:153641904 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NC_000023.10:g.(?_153640161)_(153649363_?)dup |
duplication |
3-Methylglutaconic aciduria type 2 [RCV000808649] |
ChrX:153640161..153649363 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.*618A>G |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001166585]|Endocardial fibroelastosis [RCV001166586]|Primary dilated cardiomyopathy [RCV001166587] |
ChrX:154421622 [GRCh38]
ChrX:153649961 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000803236] |
ChrX:154420254 [GRCh38]
ChrX:153648593 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000813199] |
ChrX:154411894 [GRCh38]
ChrX:153640231 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.738G>A (p.Leu246=) |
single nucleotide variant |
not provided [RCV000842290] |
ChrX:154420696 [GRCh38]
ChrX:153649035 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001168190]|Endocardial fibroelastosis [RCV001168191]|Primary dilated cardiomyopathy [RCV001168189] |
ChrX:154413548 [GRCh38]
ChrX:153641885 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq28(chrX:153566612-153731506)x2 |
copy number gain |
not provided [RCV000847027] |
ChrX:153566612..153731506 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq28(chrX:153556428-153868487)x2 |
copy number gain |
not provided [RCV000845970] |
ChrX:153556428..153868487 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV000848828] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NC_000023.10:g.(?_153577207)_(153642537_?)dup |
duplication |
Periventricular nodular heterotopia 1 [RCV001031667] |
ChrX:153577207..153642537 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 |
copy number loss |
not provided [RCV000845672] |
ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153609873-153815499)x3 |
copy number gain |
not provided [RCV000847592] |
ChrX:153609873..153815499 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001222821] |
ChrX:154412203 [GRCh38]
ChrX:153640540 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001221809] |
ChrX:154414139 [GRCh38]
ChrX:153642476 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001226052] |
ChrX:154420974 [GRCh38]
ChrX:153649313 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV000853287] |
ChrX:154420936 [GRCh38]
ChrX:153649275 [GRCh37]
ChrX:Xq28 |
pathogenic|conflicting interpretations of pathogenicity |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 |
copy number loss |
not provided [RCV000848218] |
ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
uncertain significance |
| GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 |
copy number loss |
not provided [RCV000849097] |
ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.249A>G (p.Lys83=) |
single nucleotide variant |
not provided [RCV000996072] |
ChrX:154413217 [GRCh38]
ChrX:153641554 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_000116.5(TAFAZZIN):c.*33G>A |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001167618]|Endocardial fibroelastosis [RCV001168260]|Primary dilated cardiomyopathy [RCV001167619] |
ChrX:154421037 [GRCh38]
ChrX:153649376 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001168188]|Endocardial fibroelastosis [RCV001168186]|Primary dilated cardiomyopathy [RCV001168187] |
ChrX:154413238 [GRCh38]
ChrX:153641575 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_000116.5(TAFAZZIN):c.647-6C>T |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001166050]|Endocardial fibroelastosis [RCV001166049]|Primary dilated cardiomyopathy [RCV001166051] |
ChrX:154420206 [GRCh38]
ChrX:153648545 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001169982]|Cardiomyopathy, left ventricular noncompaction [RCV000853160] |
ChrX:154411872 [GRCh38]
ChrX:153640209 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.355G>A (p.Val119Met) |
single nucleotide variant |
Cardiomyopathy, left ventricular noncompaction [RCV000853163] |
ChrX:154413552 [GRCh38]
ChrX:153641889 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=) |
single nucleotide variant |
not provided [RCV000870086] |
ChrX:154420705 [GRCh38]
ChrX:153649044 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 |
copy number loss |
not provided [RCV001007318] |
ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001036935] |
ChrX:154414190 [GRCh38]
ChrX:153642527 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.460+5G>A |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001217162] |
ChrX:154414195 [GRCh38]
ChrX:153642532 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 |
copy number loss |
not provided [RCV001007322] |
ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.541+5G>A |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001035843] |
ChrX:154419628 [GRCh38]
ChrX:153647967 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001036298] |
ChrX:154414160 [GRCh38]
ChrX:153642497 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.*648A>C |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001166588]|Endocardial fibroelastosis [RCV001168330]|Primary dilated cardiomyopathy [RCV001166589] |
ChrX:154421652 [GRCh38]
ChrX:153649991 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq25-28(chrX:122132166-155097214) |
copy number loss |
Intellectual disability [RCV001249592] |
ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.528_541+7del |
deletion |
3-Methylglutaconic aciduria type 2 [RCV001061128] |
ChrX:154419607..154419627 [GRCh38]
ChrX:153647946..153647966 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.542-2A>G |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001061185] |
ChrX:154419703 [GRCh38]
ChrX:153648042 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.*165T>A |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001168261]|Endocardial fibroelastosis [RCV001168262]|Primary dilated cardiomyopathy [RCV001168263] |
ChrX:154421169 [GRCh38]
ChrX:153649508 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.777+3G>A |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001230899] |
ChrX:154420738 [GRCh38]
ChrX:153649077 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_152990712)_(153650075_?)dup |
duplication |
Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001031812] |
ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001215030] |
ChrX:154420709 [GRCh38]
ChrX:153649048 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001228815] |
ChrX:154411890 [GRCh38]
ChrX:153640227 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001036775] |
ChrX:154414110 [GRCh38]
ChrX:153642447 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001051674] |
ChrX:154411932 [GRCh38]
ChrX:153640269 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.777+1G>A |
single nucleotide variant |
Cardiomyopathy [RCV001193472] |
ChrX:154420736 [GRCh38]
ChrX:153649075 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001042821] |
ChrX:154411870 [GRCh38]
ChrX:153640207 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1A [RCV001256964] |
ChrX:154420222 [GRCh38]
ChrX:153648561 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_153579929)_(153649363_?)dup |
duplication |
Periventricular nodular heterotopia 1 [RCV001313748] |
ChrX:153579929..153649363 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 |
copy number loss |
not provided [RCV001259012] |
ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 |
copy number gain |
See cases [RCV001263024] |
ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.584-9C>A |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001341673] |
ChrX:154420023 [GRCh38]
ChrX:153648362 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001327775] |
ChrX:154412181 [GRCh38]
ChrX:153640518 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001326374] |
ChrX:154419705 [GRCh38]
ChrX:153648044 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001283758] |
ChrX:154420731 [GRCh38]
ChrX:153649070 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001306805] |
ChrX:154412160 [GRCh38]
ChrX:153640497 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001321649] |
ChrX:154414133 [GRCh38]
ChrX:153642470 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 |
copy number gain |
not provided [RCV001281359] |
ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001338809] |
ChrX:154412166 [GRCh38]
ChrX:153640503 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe) |
single nucleotide variant |
3-Methylglutaconic aciduria type 2 [RCV001329032] |
ChrX:154412188 [GRCh38]
ChrX:153640525 [GRCh37]
ChrX:Xq28 |
uncertain significance |
