NM_005334.3(HCFC1):c.-970T>C |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000032896] |
ChrX:153971810 [GRCh38] ChrX:153237261 [GRCh37] ChrX:152890455 [NCBI36] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000032897]|not provided [RCV000059786] |
ChrX:153963263 [GRCh38] ChrX:153228714 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_005334.3(HCFC1):c.3344G>T (p.Gly1115Val) |
single nucleotide variant |
not provided [RCV000521058] |
ChrX:153955055 [GRCh38] ChrX:153220506 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001513643]|not provided [RCV003437312]|not specified [RCV000605580] |
ChrX:153957354 [GRCh38] ChrX:153222805 [GRCh37] ChrX:Xq28 |
benign|likely benign |
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 |
NM_005334.3(HCFC1):c.2029-7_2029-6insTAA |
insertion |
not provided [RCV000519421] |
ChrX:153957892..153957893 [GRCh38] ChrX:153223343..153223344 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV002513743]|Methylmalonic acidemia with homocystinuria, type cblX [RCV000057506] |
ChrX:153964283 [GRCh38] ChrX:153229734 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) |
single nucleotide variant |
Cobalamin C disease [RCV001199845]|Disorders of Intracellular Cobalamin Metabolism [RCV002513744]|Intellectual disability [RCV000224133]|Methylmalonic acidemia with homocystinuria, type cblX [RCV000057507]|not provided [RCV000224484] |
ChrX:153964702 [GRCh38] ChrX:153230153 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|not provided |
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV002513745]|Methylmalonic acidemia with homocystinuria, type cblX [RCV000057508] |
ChrX:153964703 [GRCh38] ChrX:153230154 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
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 Xq28(chrX:153929344-154367160)x3 |
copy number gain |
See cases [RCV000050852] |
ChrX:153929344..154367160 [GRCh38] ChrX:153333946..153595528 [GRCh37] ChrX:152847991..153248722 [NCBI36] ChrX:Xq28 |
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 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 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)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 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: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 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 Xq28(chrX:153722500-154367160)x2 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] |
ChrX:153722500..154367160 [GRCh38] ChrX:152641149..153248722 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 |
copy number gain |
See cases [RCV000052525] |
ChrX:153769547..154394658 [GRCh38] ChrX:152688196..153276194 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 |
copy number gain |
See cases [RCV000052527] |
ChrX:153777340..154397779 [GRCh38] ChrX:153333946..153626120 [GRCh37] ChrX:152695989..153279314 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 |
copy number gain |
See cases [RCV000052528] |
ChrX:153787044..154397779 [GRCh38] ChrX:153333946..153626120 [GRCh37] ChrX:152705693..153279314 [NCBI36] ChrX:Xq28 |
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 Xq28(chrX:153504314-154144797)x2 |
copy number gain |
See cases [RCV000052492] |
ChrX:153504314..154144797 [GRCh38] ChrX:152422966..153063464 [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 Xq28(chrX:153590730-154380801)x2 |
copy number gain |
See cases [RCV000052522] |
ChrX:153590730..154380801 [GRCh38] ChrX:152864376..153609161 [GRCh37] ChrX:152509382..153262355 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 |
copy number gain |
See cases [RCV000052523] |
ChrX:153714542..154380803 [GRCh38] ChrX:152633191..153262357 [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 |
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000660486] |
ChrX:153954084 [GRCh38] ChrX:153219535 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001248497]|not provided [RCV001814290] |
ChrX:153951444 [GRCh38] ChrX:153216895 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=) |
single nucleotide variant |
not provided [RCV000081289] |
ChrX:153960046 [GRCh38] ChrX:153225497 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001513392]|not specified [RCV000081290] |
ChrX:153956206 [GRCh38] ChrX:153221657 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001513390]|not specified [RCV000081291] |
ChrX:153954909 [GRCh38] ChrX:153220360 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_005334.3(HCFC1):c.3550G>A (p.Gly1184Arg) |
single nucleotide variant |
not provided [RCV000081292] |
ChrX:153954849 [GRCh38] ChrX:153220300 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001514167]|not specified [RCV000081293] |
ChrX:153954214 [GRCh38] ChrX:153219665 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001514858]|not specified [RCV000081294] |
ChrX:153950388 [GRCh38] ChrX:153215839 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001514168]|not specified [RCV000117213] |
ChrX:153957384 [GRCh38] ChrX:153222835 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001513391]|not specified [RCV000117214] |
ChrX:153955513 [GRCh38] ChrX:153220964 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001520721]|not provided [RCV000117215]|not specified [RCV000599889] |
ChrX:153955109 [GRCh38] ChrX:153220560 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000948165]|not specified [RCV000117216] |
ChrX:153954831 [GRCh38] ChrX:153220282 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001514166]|not specified [RCV000117217] |
ChrX:153952914 [GRCh38] ChrX:153218365 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
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_005334.3(HCFC1):c.4790C>T (p.Ala1597Val) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001248508] |
ChrX:153952666 [GRCh38] ChrX:153218117 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.503+14C>G |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001511495]|not provided [RCV000514082]|not specified [RCV000613088] |
ChrX:153964110 [GRCh38] ChrX:153229561 [GRCh37] ChrX:Xq28 |
benign|likely benign |
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) |
copy number gain |
Syndromic X-linked intellectual disability Lubs type [RCV003214133] |
ChrX:139586015..154774957 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV000190805]|Methylmalonic acidemia with homocystinuria, type cblX [RCV001814098]|not specified [RCV001818463] |
ChrX:153955043 [GRCh38] ChrX:153220494 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_005334.3(HCFC1):c.5860G>A (p.Gly1954Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV000190708] |
ChrX:153950387 [GRCh38] ChrX:153215838 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001302901] |
ChrX:153951399 [GRCh38] ChrX:153216850 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000638559]|not specified [RCV000174341] |
ChrX:153957806 [GRCh38] ChrX:153223257 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
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: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 |
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000602586]|not provided [RCV001706122]|not specified [RCV000174905] |
ChrX:153956670 [GRCh38] ChrX:153222121 [GRCh37] ChrX:Xq28 |
benign|likely benign |
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 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 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 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 Xq28(chrX:153855152-154092314)x2 |
copy number gain |
See cases [RCV000135840] |
ChrX:153855152..154092314 [GRCh38] ChrX:152773801..153010966 [NCBI36] ChrX:Xq28 |
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 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 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: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 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 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 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 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 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: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 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 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 Xq28(chrX:153667032-154394658)x2 |
copy number gain |
See cases [RCV000137536] |
ChrX:153667032..154394658 [GRCh38] ChrX:152585681..153276194 [NCBI36] ChrX:Xq28 |
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 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 Xq28(chrX:153813894-154140759)x2 |
copy number gain |
See cases [RCV000137153] |
ChrX:153813894..154140759 [GRCh38] ChrX:152732543..153059427 [NCBI36] ChrX:Xq28 |
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 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 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 Xq21.31-28(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 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 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:153813894-154383071)x2 |
copy number gain |
See cases [RCV000140524] |
ChrX:153813894..154383071 [GRCh38] ChrX:153079349..153611431 [GRCh37] ChrX:152732543..153264625 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 |
copy number gain |
See cases [RCV000140532] |
ChrX:153451351..154230630 [GRCh38] ChrX:152716809..153496099 [GRCh37] ChrX:152370003..153149293 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153802827-154294817)x2 |
copy number gain |
See cases [RCV000140537] |
ChrX:153802827..154294817 [GRCh38] ChrX:153068282..153523170 [GRCh37] ChrX:152721476..153176364 [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:153861449-154140759)x2 |
copy number gain |
See cases [RCV000143114] |
ChrX:153861449..154140759 [GRCh38] ChrX:152780098..153059427 [NCBI36] ChrX:Xq28 |
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_005334.3(HCFC1):c.4545G>A (p.Pro1515=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001510628]|not specified [RCV000153347] |
ChrX:153952911 [GRCh38] ChrX:153218362 [GRCh37] ChrX:Xq28 |
benign |
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 |
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 |
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002056033]|not provided [RCV000153346] |
ChrX:153949579 [GRCh38] ChrX:153215030 [GRCh37] ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000969004]|not provided [RCV001573815]|not specified [RCV000193244] |
ChrX:153955527 [GRCh38] ChrX:153220978 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005334.3(HCFC1):c.713-13C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001518352]|not specified [RCV000178905] |
ChrX:153962319 [GRCh38] ChrX:153227770 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.905-3C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001325203]|not specified [RCV000195219] |
ChrX:153960417 [GRCh38] ChrX:153225868 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance |
NM_005334.3(HCFC1):c.1047C>G (p.Asn349Lys) |
single nucleotide variant |
not provided [RCV000179904] |
ChrX:153960272 [GRCh38] ChrX:153225723 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5664T>G (p.Pro1888=) |
single nucleotide variant |
not provided [RCV000176405] |
ChrX:153950852 [GRCh38] ChrX:153216303 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
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 |
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002054266]|not specified [RCV000193189] |
ChrX:153954709 [GRCh38] ChrX:153220160 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.984C>T (p.Val328=) |
single nucleotide variant |
not specified [RCV000193208] |
ChrX:153960335 [GRCh38] ChrX:153225786 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=) |
single nucleotide variant |
not specified [RCV000193817] |
ChrX:153956951 [GRCh38] ChrX:153222402 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=) |
single nucleotide variant |
not specified [RCV000194081] |
ChrX:153955273 [GRCh38] ChrX:153220724 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1084+8C>T |
single nucleotide variant |
not specified [RCV000194817] |
ChrX:153960227 [GRCh38] ChrX:153225678 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000638561]|not provided [RCV001726038]|not specified [RCV000194960] |
ChrX:153954907 [GRCh38] ChrX:153220358 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001400453]|not specified [RCV000195023] |
ChrX:153956356 [GRCh38] ChrX:153221807 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.5528G>C (p.Gly1843Ala) |
single nucleotide variant |
not provided [RCV003229817]|not specified [RCV000194390] |
ChrX:153950988 [GRCh38] ChrX:153216439 [GRCh37] ChrX:Xq28 |
uncertain significance |
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:71267-155255839)x1 |
copy number loss |
See cases [RCV000239832] |
ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
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 |
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000209921] |
ChrX:153952053 [GRCh38] ChrX:153217504 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.5374G>T (p.Gly1792Cys) |
single nucleotide variant |
not provided [RCV000224398] |
ChrX:153951594 [GRCh38] ChrX:153217045 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002516244]|Methylmalonic acidemia with homocystinuria, type cblX [RCV000224972]|not provided [RCV000493756] |
ChrX:153959817 [GRCh38] ChrX:153225268 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.3990C>T (p.Thr1330=) |
single nucleotide variant |
not provided [RCV000757369] |
ChrX:153954409 [GRCh38] ChrX:153219860 [GRCh37] ChrX:Xq28 |
likely benign |
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:71267-155224766)x1 |
copy number loss |
See cases [RCV000239902] |
ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153047627-153555804)x2 |
copy number gain |
See cases [RCV000239929] |
ChrX:153047627..153555804 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152912867-153236360)x2 |
copy number gain |
See cases [RCV000239969] |
ChrX:152912867..153236360 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 |
copy number gain |
See cases [RCV000239989] |
ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_005334.3(HCFC1):c.3829G>A (p.Ala1277Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV000623828] |
ChrX:153954570 [GRCh38] ChrX:153220021 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [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 Xq28(chrX:152993910-153555804)x2 |
copy number gain |
See cases [RCV000240396] |
ChrX:152993910..153555804 [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_005334.3(HCFC1):c.2626G>A (p.Gly876Ser) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001247405]|not provided [RCV000487553] |
ChrX:153956634 [GRCh38] ChrX:153222085 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005334.3(HCFC1):c.1085-12G>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001513318]|not specified [RCV000350506] |
ChrX:153960173 [GRCh38] ChrX:153225624 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 |
copy number gain |
Klinefelter syndrome [RCV002282732] |
ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_005334.3(HCFC1):c.4598A>G (p.Glu1533Gly) |
single nucleotide variant |
not provided [RCV003314990] |
ChrX:153952858 [GRCh38] ChrX:153218309 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2144C>T (p.Pro715Leu) |
single nucleotide variant |
not provided [RCV000520339] |
ChrX:153957523 [GRCh38] ChrX:153222974 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002528905]|Methylmalonic acidemia with homocystinuria, type cblX [RCV001520105] |
ChrX:153954546 [GRCh38] ChrX:153219997 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.1741G>A (p.Ala581Thr) |
single nucleotide variant |
not provided [RCV000284130] |
ChrX:153958631 [GRCh38] ChrX:153224082 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4333+11G>T |
single nucleotide variant |
not specified [RCV000605212] |
ChrX:153954055 [GRCh38] ChrX:153219506 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2857-23CTC[2] |
microsatellite |
not provided [RCV000312798] |
ChrX:153955557..153955559 [GRCh38] ChrX:153221008..153221010 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV000622815]|Methylmalonic acidemia with homocystinuria, type cblX [RCV001860442] |
ChrX:153951668 [GRCh38] ChrX:153217119 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4275C>T (p.His1425=) |
single nucleotide variant |
not specified [RCV000606850] |
ChrX:153954124 [GRCh38] ChrX:153219575 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4759C>T (p.Leu1587Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV000624789] |
ChrX:153952697 [GRCh38] ChrX:153218148 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001409483]|not specified [RCV000603325] |
ChrX:153958650 [GRCh38] ChrX:153224101 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4086C>T (p.Thr1362=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000578143] |
ChrX:153954313 [GRCh38] ChrX:153219764 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002527603]|Methylmalonic acidemia with homocystinuria, type cblX [RCV001314423]|not provided [RCV000522865] |
ChrX:153954507 [GRCh38] ChrX:153219958 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.1102G>T (p.Ala368Ser) |
single nucleotide variant |
not provided [RCV000585340] |
ChrX:153960144 [GRCh38] ChrX:153225595 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) |
deletion |
Inborn genetic diseases [RCV002532688]|Methylmalonic acidemia with homocystinuria, type cblX [RCV001262125]|not provided [RCV000599399] |
ChrX:153952113..153952118 [GRCh38] ChrX:153217564..153217569 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2352G>A (p.Thr784=) |
single nucleotide variant |
not specified [RCV000604571] |
ChrX:153957315 [GRCh38] ChrX:153222766 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.6005-18C>G |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002529670]|not specified [RCV000602908] |
ChrX:153949634 [GRCh38] ChrX:153215085 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.5533G>A (p.Val1845Ile) |
single nucleotide variant |
not provided [RCV003221550] |
ChrX:153950983 [GRCh38] ChrX:153216434 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4981A>G (p.Thr1661Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002533112]|not provided [RCV000729776] |
ChrX:153952120 [GRCh38] ChrX:153217571 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg) |
single nucleotide variant |
not specified [RCV000412955] |
ChrX:153953629 [GRCh38] ChrX:153219080 [GRCh37] ChrX:Xq28 |
uncertain significance |
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 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:60701-155246225)x3 |
copy number gain |
See cases [RCV000446270] |
ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
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: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 Xq28(chrX:152970475-153524157)x2 |
copy number gain |
See cases [RCV000447506] |
ChrX:152970475..153524157 [GRCh37] ChrX:Xq28 |
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_005334.3(HCFC1):c.4159G>A (p.Val1387Met) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001079896]|not provided [RCV000443342]|not specified [RCV000614054] |
ChrX:153954240 [GRCh38] ChrX:153219691 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.1605+16T>G |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002058970]|not specified [RCV000420868] |
ChrX:153959315 [GRCh38] ChrX:153224766 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3255G>A (p.Thr1085=) |
single nucleotide variant |
not provided [RCV000937239]|not specified [RCV000423908] |
ChrX:153955144 [GRCh38] ChrX:153220595 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 |
copy number loss |
See cases [RCV000446026] |
ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001078679]|not provided [RCV000960626]|not specified [RCV000441870] |
ChrX:153951670 [GRCh38] ChrX:153217121 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000948164]|not specified [RCV000418071] |
ChrX:153953640 [GRCh38] ChrX:153219091 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=) |
single nucleotide variant |
not specified [RCV000424409] |
ChrX:153956404 [GRCh38] ChrX:153221855 [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_005334.3(HCFC1):c.5808C>T (p.Gly1936=) |
single nucleotide variant |
not specified [RCV000428167] |
ChrX:153950439 [GRCh38] ChrX:153215890 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000883327]|not specified [RCV000431822] |
ChrX:153952830 [GRCh38] ChrX:153218281 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002058990]|not specified [RCV000438543] |
ChrX:153950496 [GRCh38] ChrX:153215947 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.1804-18C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002525435]|not specified [RCV000438615] |
ChrX:153958267 [GRCh38] ChrX:153223718 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.6004+14G>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002521767]|not specified [RCV000418614] |
ChrX:153950229 [GRCh38] ChrX:153215680 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=) |
single nucleotide variant |
not specified [RCV000438821] |
ChrX:153951628 [GRCh38] ChrX:153217079 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002059772]|not provided [RCV003437193]|not specified [RCV000442489] |
ChrX:153954496 [GRCh38] ChrX:153219947 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1605+20G>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002062461]|not specified [RCV000435401] |
ChrX:153959311 [GRCh38] ChrX:153224762 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000973917]|not provided [RCV001702654]|not specified [RCV000421721] |
ChrX:153952731 [GRCh38] ChrX:153218182 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.3504C>G (p.Thr1168=) |
single nucleotide variant |
not specified [RCV000439248] |
ChrX:153954895 [GRCh38] ChrX:153220346 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1560C>T (p.Pro520=) |
single nucleotide variant |
not specified [RCV000442976] |
ChrX:153959376 [GRCh38] ChrX:153224827 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001079029]|not provided [RCV000424988] |
ChrX:153951449 [GRCh38] ChrX:153216900 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000638563]|not specified [RCV000436258] |
ChrX:153957032 [GRCh38] ChrX:153222483 [GRCh37] ChrX:Xq28 |
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_005334.3(HCFC1):c.4881G>A (p.Thr1627=) |
single nucleotide variant |
not specified [RCV000436275] |
ChrX:153952575 [GRCh38] ChrX:153218026 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002488937]|not specified [RCV000419932] |
ChrX:153957020 [GRCh38] ChrX:153222471 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.1119A>G (p.Val373=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000891074]|not specified [RCV000422700] |
ChrX:153960127 [GRCh38] ChrX:153225578 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.1472G>T (p.Gly491Val) |
single nucleotide variant |
not provided [RCV001721486] |
ChrX:153959464 [GRCh38] ChrX:153224915 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002522497]|Methylmalonic acidemia with homocystinuria, type cblX [RCV000885849]|not provided [RCV001698190] |
ChrX:153954642 [GRCh38] ChrX:153220093 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000638565]|not provided [RCV001702453]|not specified [RCV000440143] |
ChrX:153953662 [GRCh38] ChrX:153219113 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met) |
single nucleotide variant |
not provided [RCV000443814] |
ChrX:153952117 [GRCh38] ChrX:153217568 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1085-16C>G |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002062775]|not specified [RCV000422878] |
ChrX:153960177 [GRCh38] ChrX:153225628 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.2584G>A (p.Val862Ile) |
single nucleotide variant |
not provided [RCV000429898] |
ChrX:153956676 [GRCh38] ChrX:153222127 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.6005-12C>G |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002524876]|not specified [RCV000433362] |
ChrX:153949628 [GRCh38] ChrX:153215079 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.6005-12C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002063358]|not specified [RCV000433373] |
ChrX:153949628 [GRCh38] ChrX:153215079 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.3018T>C (p.Pro1006=) |
single nucleotide variant |
not specified [RCV000440500] |
ChrX:153955381 [GRCh38] ChrX:153220832 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001088878]|not provided [RCV000969389]|not specified [RCV000423087] |
ChrX:153954331 [GRCh38] ChrX:153219782 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000970564]|not provided [RCV001702484]|not specified [RCV000444476] |
ChrX:153956260 [GRCh38] ChrX:153221711 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.1445-14C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002062537]|not specified [RCV000423437] |
ChrX:153959505 [GRCh38] ChrX:153224956 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=) |
single nucleotide variant |
not specified [RCV000434101] |
ChrX:153951350 [GRCh38] ChrX:153216801 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4182G>A (p.Ala1394=) |
single nucleotide variant |
not provided [RCV000927588]|not specified [RCV000441139] |
ChrX:153954217 [GRCh38] ChrX:153219668 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001080457]|not provided [RCV000441909]|not specified [RCV000613623] |
ChrX:153954605 [GRCh38] ChrX:153220056 [GRCh37] ChrX:Xq28 |
benign|likely benign |
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 |
copy number gain |
See cases [RCV000448796] |
ChrX:152886474..153368990 [GRCh37] ChrX:Xq28 |
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 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: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_005334.3(HCFC1):c.2974G>A (p.Ala992Thr) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001089332]|not provided [RCV000514364] |
ChrX:153955425 [GRCh38] ChrX:153220876 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.1781_1803+3delinsCA |
indel |
not provided [RCV000486422] |
ChrX:153958566..153958591 [GRCh38] ChrX:153224017..153224042 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance |
NM_005334.3(HCFC1):c.5997G>T (p.Trp1999Cys) |
single nucleotide variant |
not provided [RCV000486458] |
ChrX:153950250 [GRCh38] ChrX:153215701 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002526976]|not provided [RCV000766506]|not specified [RCV000482310] |
ChrX:153952837 [GRCh38] ChrX:153218288 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002526949]|not provided [RCV000478950] |
ChrX:153952546 [GRCh38] ChrX:153217997 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1122C>T (p.Arg374=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002524197]|not specified [RCV000501063] |
ChrX:153960124 [GRCh38] ChrX:153225575 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 |
copy number gain |
See cases [RCV000510478] |
ChrX:151201777..154741703 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002527256]|not provided [RCV001703180]|not specified [RCV000503529] |
ChrX:153957378 [GRCh38] ChrX:153222829 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001399716]|not specified [RCV000503750] |
ChrX:153954553 [GRCh38] ChrX:153220004 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=) |
single nucleotide variant |
not specified [RCV000503991] |
ChrX:153955129 [GRCh38] ChrX:153220580 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1251C>T (p.Val417=) |
single nucleotide variant |
not specified [RCV000504035] |
ChrX:153959995 [GRCh38] ChrX:153225446 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4722A>C (p.Pro1574=) |
single nucleotide variant |
not specified [RCV000499415] |
ChrX:153952734 [GRCh38] ChrX:153218185 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met) |
single nucleotide variant |
not specified [RCV000499852] |
ChrX:153960032 [GRCh38] ChrX:153225483 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001514665]|not specified [RCV000502145] |
ChrX:153956656 [GRCh38] ChrX:153222107 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.1461C>T (p.Leu487=) |
single nucleotide variant |
not specified [RCV000502570] |
ChrX:153959475 [GRCh38] ChrX:153224926 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000974787]|not specified [RCV000502520] |
ChrX:153962302 [GRCh38] ChrX:153227753 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.1692A>G (p.Ala564=) |
single nucleotide variant |
not specified [RCV000500475] |
ChrX:153958680 [GRCh38] ChrX:153224131 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4594G>A (p.Ala1532Thr) |
single nucleotide variant |
not specified [RCV000502967] |
ChrX:153952862 [GRCh38] ChrX:153218313 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 |
copy number gain |
See cases [RCV000510362] |
ChrX:153097608..153681801 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=) |
single nucleotide variant |
not specified [RCV000500679] |
ChrX:153954934 [GRCh38] ChrX:153220385 [GRCh37] ChrX:Xq28 |
likely benign |
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|uncertain significance |
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 |
copy number loss |
See cases [RCV000511572] |
ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28 |
pathogenic |
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001856977]|not provided [RCV000494599] |
ChrX:153956718 [GRCh38] ChrX:153222169 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 |
copy number loss |
See cases [RCV000511936] |
ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000766079]|not specified [RCV000507069] |
ChrX:153952880 [GRCh38] ChrX:153218331 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 |
copy number loss |
See cases [RCV000511482] |
ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
NM_005334.3(HCFC1):c.5491C>T (p.Pro1831Ser) |
single nucleotide variant |
not provided [RCV000492897] |
ChrX:153951376 [GRCh38] ChrX:153216827 [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_005334.3(HCFC1):c.4969G>A (p.Glu1657Lys) |
single nucleotide variant |
not provided [RCV000493062] |
ChrX:153952132 [GRCh38] ChrX:153217583 [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 Xp11.21-q28(chrX:56457791-155233731)x3 |
copy number gain |
See cases [RCV000511307] |
ChrX:56457791..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 |
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_005334.3(HCFC1):c.2636-16G>T |
single nucleotide variant |
not specified [RCV000603182] |
ChrX:153956427 [GRCh38] ChrX:153221878 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu) |
single nucleotide variant |
not specified [RCV003317878] |
ChrX:153954554 [GRCh38] ChrX:153220005 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.6068T>C (p.Met2023Thr) |
single nucleotide variant |
not provided [RCV003318047] |
ChrX:153949553 [GRCh38] ChrX:153215004 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5261-17A>G |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002065271]|not specified [RCV000605541] |
ChrX:153951724 [GRCh38] ChrX:153217175 [GRCh37] ChrX:Xq28 |
benign|likely benign |
GRCh37/hg19 Xq28(chrX:153138672-153665655) |
copy number gain |
Microcytic anemia [RCV000626549] |
ChrX:153138672..153665655 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=) |
single nucleotide variant |
not specified [RCV000603271] |
ChrX:153955057 [GRCh38] ChrX:153220508 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002528711]|Methylmalonic acidemia with homocystinuria, type cblX [RCV000892959]|not specified [RCV000606981] |
ChrX:153951692 [GRCh38] ChrX:153217143 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000638562] |
ChrX:153957435 [GRCh38] ChrX:153222886 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=) |
single nucleotide variant |
not specified [RCV000615116] |
ChrX:153952545 [GRCh38] ChrX:153217996 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000904711]|not specified [RCV000612508] |
ChrX:153950289 [GRCh38] ChrX:153215740 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001505393]|not specified [RCV000615853] |
ChrX:153955282 [GRCh38] ChrX:153220733 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000920930]|not specified [RCV000602012] |
ChrX:153956230 [GRCh38] ChrX:153221681 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=) |
single nucleotide variant |
not specified [RCV000607410] |
ChrX:153954358 [GRCh38] ChrX:153219809 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002066908]|not provided [RCV002263834]|not specified [RCV000610345] |
ChrX:153954436 [GRCh38] ChrX:153219887 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.4218G>A (p.Ala1406=) |
single nucleotide variant |
not provided [RCV000925828]|not specified [RCV000616246] |
ChrX:153954181 [GRCh38] ChrX:153219632 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000909461]|not specified [RCV000616391] |
ChrX:153955018 [GRCh38] ChrX:153220469 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.1728C>T (p.Ile576=) |
single nucleotide variant |
not specified [RCV000613441] |
ChrX:153958644 [GRCh38] ChrX:153224095 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001468703]|not specified [RCV000610738] |
ChrX:153954456 [GRCh38] ChrX:153219907 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2856+15G>A |
single nucleotide variant |
not specified [RCV000613672] |
ChrX:153956176 [GRCh38] ChrX:153221627 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000638560]|not specified [RCV000613758] |
ChrX:153950915 [GRCh38] ChrX:153216366 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002528553]|not specified [RCV000608374] |
ChrX:153956671 [GRCh38] ChrX:153222122 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.3585G>A (p.Pro1195=) |
single nucleotide variant |
not specified [RCV000608567] |
ChrX:153954814 [GRCh38] ChrX:153220265 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4089T>C (p.Thr1363=) |
single nucleotide variant |
not specified [RCV000614098] |
ChrX:153954310 [GRCh38] ChrX:153219761 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.380C>T (p.Thr127Met) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002064082]|not specified [RCV000608858] |
ChrX:153964247 [GRCh38] ChrX:153229698 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=) |
single nucleotide variant |
not specified [RCV000614416] |
ChrX:153950298 [GRCh38] ChrX:153215749 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.-25C>G |
single nucleotide variant |
not specified [RCV000614506] |
ChrX:153970865 [GRCh38] ChrX:153236316 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4942+9C>T |
single nucleotide variant |
not specified [RCV000609194] |
ChrX:153952505 [GRCh38] ChrX:153217956 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1084+18G>T |
single nucleotide variant |
not specified [RCV000611823] |
ChrX:153960217 [GRCh38] ChrX:153225668 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3636C>T (p.Ala1212=) |
single nucleotide variant |
not specified [RCV000611901] |
ChrX:153954763 [GRCh38] ChrX:153220214 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000907145]|not specified [RCV000614618] |
ChrX:153954784 [GRCh38] ChrX:153220235 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001516947]|not provided [RCV003437315]|not specified [RCV000614665] |
ChrX:153956668 [GRCh38] ChrX:153222119 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.503+3G>A |
single nucleotide variant |
not specified [RCV000614673] |
ChrX:153964121 [GRCh38] ChrX:153229572 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 |
copy number gain |
See cases [RCV000512403] |
ChrX:152899437..153624564 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.5517+16T>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002062905]|not specified [RCV000600176] |
ChrX:153951334 [GRCh38] ChrX:153216785 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5260+17G>C |
single nucleotide variant |
not specified [RCV000600475] |
ChrX:153951824 [GRCh38] ChrX:153217275 [GRCh37] ChrX:Xq28 |
likely benign |
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.(?_153128098)_(153599633_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645140] |
ChrX:153128098..153599633 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.4947C>T (p.Thr1649=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002060179] |
ChrX:153952154 [GRCh38] ChrX:153217605 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.4001C>T (p.Thr1334Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV000623608] |
ChrX:153954398 [GRCh38] ChrX:153219849 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 |
copy number gain |
See cases [RCV000512173] |
ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_005334.3(HCFC1):c.2992G>A (p.Asp998Asn) |
single nucleotide variant |
not provided [RCV000658053] |
ChrX:153955407 [GRCh38] ChrX:153220858 [GRCh37] ChrX:Xq28 |
uncertain significance |
Single allele |
duplication |
not provided [RCV000677999] |
ChrX:152912867..153236360 [GRCh37] ChrX:Xq28 |
uncertain significance |
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 Xq22.3-28(chrX:107823442-155233731)x1 |
copy number loss |
not provided [RCV000684373] |
ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28 |
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:152628304-153594168)x2 |
copy number gain |
not provided [RCV000684738] |
ChrX:152628304..153594168 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 |
copy number gain |
not provided [RCV000684739] |
ChrX:152941302..153438781 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq28(chrX:153123907-153431401)x2 |
copy number gain |
not provided [RCV000684741] |
ChrX:153123907..153431401 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.3399A>G (p.Arg1133=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001412324] |
ChrX:153955000 [GRCh38] ChrX:153220451 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_152954010)_(153599633_?)dup |
duplication |
Creatine transporter deficiency [RCV003117500]|Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] |
ChrX:152954010..153599633 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000706024] |
ChrX:153954246 [GRCh38] ChrX:153219697 [GRCh37] ChrX:Xq28 |
conflicting interpretations of pathogenicity|uncertain significance |
NC_000023.10:g.(?_153128823)_(153416424_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000708432] |
ChrX:153128823..153416424 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153128118)_(153416424_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000707765] |
ChrX:153128118..153416424 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000696305] |
ChrX:153959819 [GRCh38] ChrX:153225270 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153170600)_(153409869_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000708104]|not provided [RCV003117501] |
ChrX:153170600..153409869 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|no classifications from unflagged records |
NC_000023.10:g.(?_153184286)_(153409869_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000708531] |
ChrX:153184286..153409869 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.1605+106C>A |
single nucleotide variant |
not provided [RCV001547469] |
ChrX:153959225 [GRCh38] ChrX:153224676 [GRCh37] ChrX:Xq28 |
likely benign |
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 Xq28(chrX:152806628-153626649)x2 |
copy number gain |
not provided [RCV000753922] |
ChrX:152806628..153626649 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153184816-153626794)x3 |
copy number gain |
not provided [RCV000753930] |
ChrX:153184816..153626794 [GRCh37] ChrX:Xq28 |
likely 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 Xp22.33-q28(chrX:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [GRCh37] 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:60814-155236712)x2 |
copy number gain |
not provided [RCV000753276] |
ChrX:60814..155236712 [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 |
Single allele |
duplication |
Autism [RCV000754365] |
ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28 |
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 |
NM_005334.3(HCFC1):c.4194C>T (p.Ser1398=) |
single nucleotide variant |
not provided [RCV001702285] |
ChrX:153954205 [GRCh38] ChrX:153219656 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4497+304G>A |
single nucleotide variant |
not provided [RCV001666203] |
ChrX:153953303 [GRCh38] ChrX:153218754 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.904+53C>G |
single nucleotide variant |
not provided [RCV001533844] |
ChrX:153961489 [GRCh38] ChrX:153226940 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3180G>T (p.Val1060=) |
single nucleotide variant |
not provided [RCV000917014] |
ChrX:153955219 [GRCh38] ChrX:153220670 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5703+70dup |
duplication |
not provided [RCV001569199] |
ChrX:153950734..153950735 [GRCh38] ChrX:153216185..153216186 [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_005334.3(HCFC1):c.1789T>G (p.Ser597Ala) |
single nucleotide variant |
not provided [RCV001568576] |
ChrX:153958583 [GRCh38] ChrX:153224034 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4026G>A (p.Thr1342=) |
single nucleotide variant |
not provided [RCV000906947] |
ChrX:153954373 [GRCh38] ChrX:153219824 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000921522] |
ChrX:153954940 [GRCh38] ChrX:153220391 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3930A>T (p.Ala1310=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002537547] |
ChrX:153954469 [GRCh38] ChrX:153219920 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000903361] |
ChrX:153954136 [GRCh38] ChrX:153219587 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4158C>T (p.Thr1386=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002065655] |
ChrX:153954241 [GRCh38] ChrX:153219692 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000899606] |
ChrX:153956380 [GRCh38] ChrX:153221831 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000945281] |
ChrX:153954139 [GRCh38] ChrX:153219590 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000914947] |
ChrX:153952683 [GRCh38] ChrX:153218134 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000882333]|not specified [RCV001817079] |
ChrX:153951377 [GRCh38] ChrX:153216828 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1842C>T (p.Ala614=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002548308] |
ChrX:153958211 [GRCh38] ChrX:153223662 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3103G>C (p.Ala1035Pro) |
single nucleotide variant |
not provided [RCV000905314] |
ChrX:153955296 [GRCh38] ChrX:153220747 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.237C>A (p.Pro79=) |
single nucleotide variant |
not provided [RCV000898839]|not specified [RCV001818737] |
ChrX:153964683 [GRCh38] ChrX:153230134 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2346C>T (p.Gly782=) |
single nucleotide variant |
not provided [RCV000902207] |
ChrX:153957321 [GRCh38] ChrX:153222772 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001513990] |
ChrX:153955171 [GRCh38] ChrX:153220622 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000884806] |
ChrX:153954282 [GRCh38] ChrX:153219733 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001795556] |
ChrX:153959891 [GRCh38] ChrX:153225342 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153174571-153609996) |
copy number gain |
Syndromic X-linked intellectual disability Lubs type [RCV000767661] |
ChrX:153174571..153609996 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001069603] |
ChrX:153951692 [GRCh38] ChrX:153217143 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_152954010)_(153363142_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] |
ChrX:152954010..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001059874] |
ChrX:153956379 [GRCh38] ChrX:153221830 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5087AGC[5] (p.Gln1699dup) |
microsatellite |
not provided [RCV000996052] |
ChrX:153952002..153952003 [GRCh38] ChrX:153217453..153217454 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002549927]|not provided [RCV000996053] |
ChrX:153952721 [GRCh38] ChrX:153218172 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4497+4A>G |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002067613]|not provided [RCV000996054] |
ChrX:153953603 [GRCh38] ChrX:153219054 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_005334.3(HCFC1):c.4426G>A (p.Val1476Met) |
single nucleotide variant |
not provided [RCV000996055] |
ChrX:153953678 [GRCh38] ChrX:153219129 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001511422]|not provided [RCV000996056] |
ChrX:153955188 [GRCh38] ChrX:153220639 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_005334.3(HCFC1):c.1606-13G>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002067427]|not provided [RCV000826295] |
ChrX:153958779 [GRCh38] ChrX:153224230 [GRCh37] ChrX:Xq28 |
benign|likely benign |
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 |
copy number loss |
not provided [RCV000847838] |
ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28 |
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 |
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000880816] |
ChrX:153954154 [GRCh38] ChrX:153219605 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002536827]|Methylmalonic acidemia with homocystinuria, type cblX [RCV000880846]|See cases [RCV002252261]|not provided [RCV003432870] |
ChrX:153952760 [GRCh38] ChrX:153218211 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000981510] |
ChrX:153956694 [GRCh38] ChrX:153222145 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000930911] |
ChrX:153963358 [GRCh38] ChrX:153228809 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000901402] |
ChrX:153954103 [GRCh38] ChrX:153219554 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1980C>T (p.Thr660=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002066480] |
ChrX:153958073 [GRCh38] ChrX:153223524 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000945280] |
ChrX:153954133 [GRCh38] ChrX:153219584 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.648C>G (p.Ser216=) |
single nucleotide variant |
not provided [RCV000896494] |
ChrX:153963289 [GRCh38] ChrX:153228740 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3579T>C (p.Leu1193=) |
single nucleotide variant |
not provided [RCV000901239] |
ChrX:153954820 [GRCh38] ChrX:153220271 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000941048] |
ChrX:153958674 [GRCh38] ChrX:153224125 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1803+7G>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002065925] |
ChrX:153958562 [GRCh38] ChrX:153224013 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5613C>T (p.Ala1871=) |
single nucleotide variant |
not provided [RCV000894911] |
ChrX:153950903 [GRCh38] ChrX:153216354 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.504-9C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001502351] |
ChrX:153963442 [GRCh38] ChrX:153228893 [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 |
GRCh37/hg19 Xq28(chrX:152372767-155233731) |
copy number gain |
Chromosome Xq28 duplication syndrome [RCV002280621]|Syndromic X-linked intellectual disability Lubs type [RCV002280620] |
ChrX:152372767..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NC_000023.10:g.(?_152954020)_(154096327_?)del |
deletion |
Adrenoleukodystrophy [RCV000815921] |
ChrX:152954020..154096327 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000814705] |
ChrX:153954704 [GRCh38] ChrX:153220155 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del) |
microsatellite |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000821246]|not provided [RCV001093006] |
ChrX:153951471..153951473 [GRCh38] ChrX:153216922..153216924 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002537503]|Methylmalonic acidemia with homocystinuria, type cblX [RCV000821405] |
ChrX:153954836 [GRCh38] ChrX:153220287 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_005334.3(HCFC1):c.2029-17C>T |
single nucleotide variant |
not provided [RCV000842654] |
ChrX:153957903 [GRCh38] ChrX:153223354 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_153128108)_(153609567_?)dup |
duplication |
X-linked Emery-Dreifuss muscular dystrophy [RCV000795425] |
ChrX:153128108..153609567 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2134-20C>A |
single nucleotide variant |
not provided [RCV000827012] |
ChrX:153957553 [GRCh38] ChrX:153223004 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.797+247T>C |
single nucleotide variant |
not provided [RCV000830710] |
ChrX:153961975 [GRCh38] ChrX:153227426 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 |
copy number loss |
not provided [RCV000846274] |
ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
NM_005334.3(HCFC1):c.1407C>T (p.Gly469=) |
single nucleotide variant |
not provided [RCV000841906] |
ChrX:153959839 [GRCh38] ChrX:153225290 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_153137587)_(153363142_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000794134] |
ChrX:153137587..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.3231C>T (p.Asn1077=) |
single nucleotide variant |
not provided [RCV000842461] |
ChrX:153955168 [GRCh38] ChrX:153220619 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4942+11G>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002538330]|not provided [RCV000842468] |
ChrX:153952503 [GRCh38] ChrX:153217954 [GRCh37] ChrX:Xq28 |
benign|likely benign |
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 |
copy number loss |
not provided [RCV000849097] |
ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
NC_000023.10:g.(?_153128098)_(153363142_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000801357] |
ChrX:153128098..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.3975C>T (p.His1325=) |
single nucleotide variant |
not provided [RCV000840109] |
ChrX:153954424 [GRCh38] ChrX:153219875 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000824315] |
ChrX:153954290 [GRCh38] ChrX:153219741 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.6069-4C>T |
single nucleotide variant |
not provided [RCV000917327] |
ChrX:153949390 [GRCh38] ChrX:153214841 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2029-9C>G |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002539465] |
ChrX:153957895 [GRCh38] ChrX:153223346 [GRCh37] ChrX:Xq28 |
benign |
NC_000023.10:g.(?_152990712)_(153650075_?)del |
deletion |
X-linked Emery-Dreifuss muscular dystrophy [RCV000823256] |
ChrX:152990712..153650075 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000810818] |
ChrX:153954157 [GRCh38] ChrX:153219608 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000817195] |
ChrX:153952641 [GRCh38] ChrX:153218092 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.1085-22C>G |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001702565]|not provided [RCV000835624] |
ChrX:153960183 [GRCh38] ChrX:153225634 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000981626] |
ChrX:153958067 [GRCh38] ChrX:153223518 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000916133] |
ChrX:153964587 [GRCh38] ChrX:153230038 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq28(chrX:153154008-153624566)x2 |
copy number gain |
not provided [RCV000846110] |
ChrX:153154008..153624566 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153105400-153438105)x2 |
copy number gain |
not provided [RCV000846316] |
ChrX:153105400..153438105 [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 |
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 Xq25-28(chrX:122132166-155097214) |
copy number loss |
Intellectual disability [RCV001249592] |
ChrX:122132166..155097214 [GRCh37] ChrX:Xq25-28 |
likely pathogenic |
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001227255] |
ChrX:153952936 [GRCh38] ChrX:153218387 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg) |
indel |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001239235] |
ChrX:153970768 [GRCh38] ChrX:153236219 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1689G>A (p.Ser563=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001223620] |
ChrX:153958683 [GRCh38] ChrX:153224134 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.712+6C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001228849] |
ChrX:153963219 [GRCh38] ChrX:153228670 [GRCh37] ChrX:Xq28 |
uncertain significance |
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:122757437-155208244)x1 |
copy number loss |
Premature ovarian insufficiency [RCV000852349] |
ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_005334.3(HCFC1):c.979G>A (p.Ala327Thr) |
single nucleotide variant |
not provided [RCV000996057] |
ChrX:153960340 [GRCh38] ChrX:153225791 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4445G>A (p.Arg1482Gln) |
single nucleotide variant |
not provided [RCV003127037] |
ChrX:153953659 [GRCh38] ChrX:153219110 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_152014869)_(154563736_?)del |
deletion |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122393]|Dyskeratosis congenita [RCV003105406]|not provided [RCV003105407] |
ChrX:152014869..154563736 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|no classifications from unflagged records |
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) |
copy number gain |
Klinefelter syndrome [RCV003236730] |
ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_005334.3(HCFC1):c.4925_4936del (p.Ala1642_Ala1645del) |
deletion |
not provided [RCV003233222] |
ChrX:153952520..153952531 [GRCh38] ChrX:153217971..153217982 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3238T>C (p.Cys1080Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003291171] |
ChrX:153955161 [GRCh38] ChrX:153220612 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153195397)_(153583460_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003107408]|Methylmalonic acidemia with homocystinuria, type cblX [RCV003122559]|not provided [RCV003122560] |
ChrX:153195397..153583460 [GRCh37] ChrX:Xq28 |
uncertain significance|no classifications from unflagged records |
NC_000023.10:g.(?_153128118)_(153664237_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003107402] |
ChrX:153128118..153664237 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1232C>T (p.Ser411Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003251015] |
ChrX:153960014 [GRCh38] ChrX:153225465 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.712+222A>G |
single nucleotide variant |
not provided [RCV001572215] |
ChrX:153963003 [GRCh38] ChrX:153228454 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4333+91C>T |
single nucleotide variant |
not provided [RCV001716218] |
ChrX:153953975 [GRCh38] ChrX:153219426 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.2684C>T (p.Ala895Val) |
single nucleotide variant |
not provided [RCV001589479] |
ChrX:153956363 [GRCh38] ChrX:153221814 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003250399]|Methylmalonic acidemia with homocystinuria, type cblX [RCV001992205] |
ChrX:153952882 [GRCh38] ChrX:153218333 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2856+266G>A |
single nucleotide variant |
not provided [RCV001676392] |
ChrX:153955925 [GRCh38] ChrX:153221376 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1606-260G>A |
single nucleotide variant |
not provided [RCV001694299] |
ChrX:153959026 [GRCh38] ChrX:153224477 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1445-41G>A |
single nucleotide variant |
not provided [RCV001650634] |
ChrX:153959532 [GRCh38] ChrX:153224983 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.2436G>A (p.Ala812=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002540216]|not provided [RCV000902634] |
ChrX:153956978 [GRCh38] ChrX:153222429 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4125C>T (p.Ala1375=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002541558] |
ChrX:153954274 [GRCh38] ChrX:153219725 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5769C>T (p.Tyr1923=) |
single nucleotide variant |
not provided [RCV000976069] |
ChrX:153950478 [GRCh38] ChrX:153215929 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2973C>T (p.Thr991=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001432386] |
ChrX:153955426 [GRCh38] ChrX:153220877 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3279C>T (p.Thr1093=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002544417] |
ChrX:153955120 [GRCh38] ChrX:153220571 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001490600] |
ChrX:153954448 [GRCh38] ChrX:153219899 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1398G>A (p.Thr466=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001037014] |
ChrX:153959848 [GRCh38] ChrX:153225299 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001043818] |
ChrX:153953770 [GRCh38] ChrX:153219221 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2555G>T (p.Gly852Val) |
single nucleotide variant |
not provided [RCV001093008] |
ChrX:153956705 [GRCh38] ChrX:153222156 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001228108] |
ChrX:153959937 [GRCh38] ChrX:153225388 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV000913412]|not provided [RCV001171653] |
ChrX:153951470 [GRCh38] ChrX:153216921 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2316C>T (p.Ile772=) |
single nucleotide variant |
not provided [RCV000912213] |
ChrX:153957351 [GRCh38] ChrX:153222802 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5784C>T (p.Ala1928=) |
single nucleotide variant |
not provided [RCV000912374] |
ChrX:153950463 [GRCh38] ChrX:153215914 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2029-49C>T |
single nucleotide variant |
not provided [RCV001720799] |
ChrX:153957935 [GRCh38] ChrX:153223386 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.3681C>G (p.Asp1227Glu) |
single nucleotide variant |
not provided [RCV003231953] |
ChrX:153954718 [GRCh38] ChrX:153220169 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2066C>T (p.Thr689Ile) |
single nucleotide variant |
not provided [RCV003236984] |
ChrX:153957849 [GRCh38] ChrX:153223300 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5380-38T>G |
single nucleotide variant |
not provided [RCV001719691] |
ChrX:153951525 [GRCh38] ChrX:153216976 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.5704-42C>T |
single nucleotide variant |
not provided [RCV001717998] |
ChrX:153950585 [GRCh38] ChrX:153216036 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.503+98C>T |
single nucleotide variant |
not provided [RCV001620241] |
ChrX:153964026 [GRCh38] ChrX:153229477 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1396A>G (p.Thr466Ala) |
single nucleotide variant |
not provided [RCV001555182] |
ChrX:153959850 [GRCh38] ChrX:153225301 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2496+42C>T |
single nucleotide variant |
not provided [RCV001568925] |
ChrX:153956876 [GRCh38] ChrX:153222327 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.193+185G>C |
single nucleotide variant |
not provided [RCV001576513] |
ChrX:153970463 [GRCh38] ChrX:153235914 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1790C>T (p.Ser597Phe) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002465083] |
ChrX:153958582 [GRCh38] ChrX:153224033 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001043826]|not provided [RCV003438654] |
ChrX:153954904 [GRCh38] ChrX:153220355 [GRCh37] ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005334.3(HCFC1):c.2635+22C>T |
single nucleotide variant |
not provided [RCV001720797] |
ChrX:153956603 [GRCh38] ChrX:153222054 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.*293C>T |
single nucleotide variant |
not provided [RCV001678131] |
ChrX:153949054 [GRCh38] ChrX:153214505 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1804-145G>A |
single nucleotide variant |
not provided [RCV001717122] |
ChrX:153958394 [GRCh38] ChrX:153223845 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.713-101C>G |
single nucleotide variant |
not provided [RCV001718109] |
ChrX:153962407 [GRCh38] ChrX:153227858 [GRCh37] ChrX:Xq28 |
benign |
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_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002557966]|not provided [RCV001093007] |
ChrX:153954803 [GRCh38] ChrX:153220254 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.342+116T>C |
single nucleotide variant |
not provided [RCV001610970] |
ChrX:153964462 [GRCh38] ChrX:153229913 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4334-3C>T |
single nucleotide variant |
not provided [RCV001542089] |
ChrX:153953773 [GRCh38] ChrX:153219224 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2856+304C>T |
single nucleotide variant |
not provided [RCV001684551] |
ChrX:153955887 [GRCh38] ChrX:153221338 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq28(chrX:153194251-153623000)x2 |
copy number gain |
Intellectual disability [RCV001638055] |
ChrX:153194251..153623000 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.343-37C>T |
single nucleotide variant |
not provided [RCV001650110] |
ChrX:153964321 [GRCh38] ChrX:153229772 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq28(chrX:153023149-153345755)x2 |
copy number gain |
not provided [RCV001007367] |
ChrX:153023149..153345755 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 |
copy number loss |
not provided [RCV001537933] |
ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_005334.3(HCFC1):c.1605+193C>T |
single nucleotide variant |
not provided [RCV001682219] |
ChrX:153959138 [GRCh38] ChrX:153224589 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.5261-41G>A |
single nucleotide variant |
not provided [RCV001714503] |
ChrX:153951748 [GRCh38] ChrX:153217199 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.713-269C>A |
single nucleotide variant |
not provided [RCV001581575] |
ChrX:153962575 [GRCh38] ChrX:153228026 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.6005-278C>T |
single nucleotide variant |
not provided [RCV001649503] |
ChrX:153949894 [GRCh38] ChrX:153215345 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.2856+74C>T |
single nucleotide variant |
not provided [RCV001725483] |
ChrX:153956117 [GRCh38] ChrX:153221568 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003246783]|Methylmalonic acidemia with homocystinuria, type cblX [RCV001231378] |
ChrX:153952723 [GRCh38] ChrX:153218174 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3 |
copy number gain |
not provided [RCV001007368] |
ChrX:153029046..153567369 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001205455] |
ChrX:153953681 [GRCh38] ChrX:153219132 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3249C>T (p.His1083=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001396427]|not provided [RCV001200552] |
ChrX:153955150 [GRCh38] ChrX:153220601 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_152990712)_(153650075_?)dup |
duplication |
X-linked Emery-Dreifuss muscular dystrophy [RCV001031812] |
ChrX:152990712..153650075 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001232383] |
ChrX:153955082 [GRCh38] ChrX:153220533 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001064227] |
ChrX:153954990 [GRCh38] ChrX:153220441 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 |
copy number gain |
not provided [RCV001007365] |
ChrX:152516781..153368573 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.4381G>C (p.Gly1461Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV001267009] |
ChrX:153953723 [GRCh38] ChrX:153219174 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 |
copy number loss |
See cases [RCV002285075] |
ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001334385] |
ChrX:153952890 [GRCh38] ChrX:153218341 [GRCh37] ChrX:Xq28 |
conflicting interpretations of pathogenicity|uncertain significance |
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_005334.3(HCFC1):c.748G>A (p.Val250Met) |
single nucleotide variant |
Inborn genetic diseases [RCV001266994]|Methylmalonic acidemia with homocystinuria, type cblX [RCV002537694] |
ChrX:153962271 [GRCh38] ChrX:153227722 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.958C>T (p.Arg320Cys) |
single nucleotide variant |
Intellectual disability [RCV001260715] |
ChrX:153960361 [GRCh38] ChrX:153225812 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.722C>T (p.Thr241Met) |
single nucleotide variant |
Inborn genetic diseases [RCV001265667]|Methylmalonic acidemia with homocystinuria, type cblX [RCV001880094]|not provided [RCV002261329] |
ChrX:153962297 [GRCh38] ChrX:153227748 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_005334.3(HCFC1):c.101A>C (p.His34Pro) |
single nucleotide variant |
Intellectual disability [RCV001260714] |
ChrX:153970740 [GRCh38] ChrX:153236191 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5945G>A (p.Arg1982His) |
single nucleotide variant |
Neurodevelopmental abnormality [RCV001264675] |
ChrX:153950302 [GRCh38] ChrX:153215753 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153113943-153624215)x2 |
copy number gain |
not provided [RCV001260058] |
ChrX:153113943..153624215 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153135257-153594096)x3 |
copy number gain |
not provided [RCV001260059] |
ChrX:153135257..153594096 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 |
copy number gain |
not provided [RCV001260062] |
ChrX:152631130..153240286 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3646A>T (p.Ser1216Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV001266288] |
ChrX:153954753 [GRCh38] ChrX:153220204 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1520G>A (p.Ser507Asn) |
single nucleotide variant |
not provided [RCV002280580]|not specified [RCV003388107] |
ChrX:153959416 [GRCh38] ChrX:153224867 [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 |
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001262751] |
ChrX:153960289 [GRCh38] ChrX:153225740 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001329391] |
ChrX:153954725 [GRCh38] ChrX:153220176 [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_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001291690] |
ChrX:153954669 [GRCh38] ChrX:153220120 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001337188] |
ChrX:153954608 [GRCh38] ChrX:153220059 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001329390] |
ChrX:153958675 [GRCh38] ChrX:153224126 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001327000] |
ChrX:153952769 [GRCh38] ChrX:153218220 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2628C>T (p.Gly876=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001396960] |
ChrX:153956632 [GRCh38] ChrX:153222083 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh38/hg38 Xq28(chrX:153858452-154332213)x2 |
copy number gain |
Chromosome Xq28 duplication syndrome [RCV001375670] |
ChrX:153858452..154332213 [GRCh38] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.6009C>T (p.Thr2003=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001396765] |
ChrX:153949612 [GRCh38] ChrX:153215063 [GRCh37] ChrX:Xq28 |
likely benign |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV001391666] |
ChrX:153128098..153498669 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001353176] |
ChrX:153949386 [GRCh38] ChrX:153214837 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001320668] |
ChrX:153951447 [GRCh38] ChrX:153216898 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.477C>T (p.Ser159=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001347763] |
ChrX:153964150 [GRCh38] ChrX:153229601 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.5944C>T (p.Arg1982Cys) |
single nucleotide variant |
not provided [RCV002283271] |
ChrX:153950303 [GRCh38] ChrX:153215754 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001345485] |
ChrX:153952957 [GRCh38] ChrX:153218408 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001373207] |
ChrX:153954620 [GRCh38] ChrX:153220071 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001329392] |
ChrX:153954108 [GRCh38] ChrX:153219559 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001329394] |
ChrX:153950818 [GRCh38] ChrX:153216269 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001291632] |
ChrX:153955142 [GRCh38] ChrX:153220593 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001329393] |
ChrX:153952048 [GRCh38] ChrX:153217499 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh38/hg38 Xq28(chrX:153905292-154361918) |
copy number gain |
Syndromic X-linked intellectual disability Lubs type [RCV000012611] |
ChrX:153905292..154361918 [GRCh38] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001510972] |
ChrX:153951371 [GRCh38] ChrX:153216822 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.2859C>T (p.Pro953=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001502555] |
ChrX:153955540 [GRCh38] ChrX:153220991 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5379+20G>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001523612] |
ChrX:153951569 [GRCh38] ChrX:153217020 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4548A>T (p.Pro1516=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001442298] |
ChrX:153952908 [GRCh38] ChrX:153218359 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4308C>T (p.Val1436=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001474463] |
ChrX:153954091 [GRCh38] ChrX:153219542 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5923A>C (p.Thr1975Pro) |
single nucleotide variant |
not provided [RCV001537257] |
ChrX:153950324 [GRCh38] ChrX:153215775 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1113A>G (p.Gln371=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001442631] |
ChrX:153960133 [GRCh38] ChrX:153225584 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1029C>T (p.Tyr343=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001448989] |
ChrX:153960290 [GRCh38] ChrX:153225741 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2475C>T (p.His825=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001439555] |
ChrX:153956939 [GRCh38] ChrX:153222390 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5289C>T (p.Ala1763=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001393415] |
ChrX:153951679 [GRCh38] ChrX:153217130 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.713-3C>T |
single nucleotide variant |
not provided [RCV001529244] |
ChrX:153962309 [GRCh38] ChrX:153227760 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2685C>T (p.Ala895=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001514325]|not provided [RCV003438855] |
ChrX:153956362 [GRCh38] ChrX:153221813 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.5261-33A>C |
single nucleotide variant |
not provided [RCV001666394] |
ChrX:153951740 [GRCh38] ChrX:153217191 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.3254C>T (p.Thr1085Met) |
single nucleotide variant |
not provided [RCV001541136] |
ChrX:153955145 [GRCh38] ChrX:153220596 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.712+69G>A |
single nucleotide variant |
not provided [RCV001612728] |
ChrX:153963156 [GRCh38] ChrX:153228607 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.5823C>G (p.Ser1941=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001476307] |
ChrX:153950424 [GRCh38] ChrX:153215875 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4025C>T (p.Thr1342Met) |
single nucleotide variant |
not provided [RCV001699913] |
ChrX:153954374 [GRCh38] ChrX:153219825 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4195G>A (p.Val1399Ile) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001511345] |
ChrX:153954204 [GRCh38] ChrX:153219655 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002488444]|not provided [RCV001665288] |
ChrX:153957436 [GRCh38] ChrX:153222887 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2353+22T>C |
single nucleotide variant |
not provided [RCV001590875] |
ChrX:153957292 [GRCh38] ChrX:153222743 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4497+138C>T |
single nucleotide variant |
not provided [RCV001640979] |
ChrX:153953469 [GRCh38] ChrX:153218920 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001482909]|not provided [RCV003434268] |
ChrX:153952025 [GRCh38] ChrX:153217476 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4017C>T (p.Asn1339=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001510034] |
ChrX:153954382 [GRCh38] ChrX:153219833 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4942+8C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001451179] |
ChrX:153952506 [GRCh38] ChrX:153217957 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5848C>A (p.Arg1950=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001467394] |
ChrX:153950399 [GRCh38] ChrX:153215850 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3960G>A (p.Pro1320=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001521571] |
ChrX:153954439 [GRCh38] ChrX:153219890 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.2196C>T (p.Pro732=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001418228] |
ChrX:153957471 [GRCh38] ChrX:153222922 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1537C>G (p.Pro513Ala) |
single nucleotide variant |
not provided [RCV001526673] |
ChrX:153959399 [GRCh38] ChrX:153224850 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.138G>C (p.Val46=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001435398] |
ChrX:153970703 [GRCh38] ChrX:153236154 [GRCh37] ChrX:Xq28 |
likely benign |
Single allele |
deletion |
Immunodeficiency 33 [RCV002247742]|Splenomegaly [RCV002247743] |
ChrX:153427468..156004919 [GRCh38] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.4893G>A (p.Gln1631=) |
single nucleotide variant |
not provided [RCV001725840] |
ChrX:153952563 [GRCh38] ChrX:153218014 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_152014869)_(155171615_?)del |
deletion |
3-Methylglutaconic aciduria type 2 [RCV003119101]|Adrenoleukodystrophy [RCV003119100]|Creatine transporter deficiency [RCV003119103]|Heterotopia, periventricular, X-linked dominant [RCV003109218]|Spastic paraplegia [RCV003109219]|X-linked Emery-Dreifuss muscular dystrophy [RCV003119102] |
ChrX:152014869..155171615 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152014869)_(153363122_?)dup |
duplication |
Adrenoleukodystrophy [RCV003119105]|not provided [RCV003109220] |
ChrX:152014869..153363122 [GRCh37] ChrX:Xq28 |
uncertain significance|no classifications from unflagged records |
NM_005334.3(HCFC1):c.3518C>A (p.Ala1173Glu) |
single nucleotide variant |
not provided [RCV001725841] |
ChrX:153954881 [GRCh38] ChrX:153220332 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.6046C>T (p.Arg2016Trp) |
single nucleotide variant |
not provided [RCV001725839] |
ChrX:153949575 [GRCh38] ChrX:153215026 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002273136] |
ChrX:153954668 [GRCh38] ChrX:153220119 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1925C>T (p.Thr642Ile) |
single nucleotide variant |
not provided [RCV001761162] |
ChrX:153958128 [GRCh38] ChrX:153223579 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3866G>A (p.Cys1289Tyr) |
single nucleotide variant |
not provided [RCV001761243] |
ChrX:153954533 [GRCh38] ChrX:153219984 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5012C>T (p.Ser1671Leu) |
single nucleotide variant |
not provided [RCV001762980] |
ChrX:153952089 [GRCh38] ChrX:153217540 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.791G>C (p.Gly264Ala) |
single nucleotide variant |
not provided [RCV001767019] |
ChrX:153962228 [GRCh38] ChrX:153227679 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2133+68T>C |
single nucleotide variant |
not provided [RCV001786263] |
ChrX:153957714 [GRCh38] ChrX:153223165 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3104C>G (p.Ala1035Gly) |
single nucleotide variant |
not provided [RCV001787519] |
ChrX:153955295 [GRCh38] ChrX:153220746 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1651G>A (p.Ala551Thr) |
single nucleotide variant |
not provided [RCV001752147] |
ChrX:153958721 [GRCh38] ChrX:153224172 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.742A>T (p.Ser248Cys) |
single nucleotide variant |
not provided [RCV001754516] |
ChrX:153962277 [GRCh38] ChrX:153227728 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4780G>A (p.Glu1594Lys) |
single nucleotide variant |
not provided [RCV001771254] |
ChrX:153952676 [GRCh38] ChrX:153218127 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5341C>G (p.Leu1781Val) |
single nucleotide variant |
not provided [RCV001771299] |
ChrX:153951627 [GRCh38] ChrX:153217078 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5764G>C (p.Glu1922Gln) |
single nucleotide variant |
not provided [RCV001752444] |
ChrX:153950483 [GRCh38] ChrX:153215934 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.985G>A (p.Ala329Thr) |
single nucleotide variant |
not provided [RCV001767539] |
ChrX:153960334 [GRCh38] ChrX:153225785 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.*50G>A |
single nucleotide variant |
not provided [RCV001786608] |
ChrX:153949297 [GRCh38] ChrX:153214748 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.979G>T (p.Ala327Ser) |
single nucleotide variant |
not provided [RCV001764061] |
ChrX:153960340 [GRCh38] ChrX:153225791 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5537C>G (p.Pro1846Arg) |
single nucleotide variant |
not provided [RCV001767151] |
ChrX:153950979 [GRCh38] ChrX:153216430 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2213C>T (p.Thr738Ile) |
single nucleotide variant |
not provided [RCV001752057] |
ChrX:153957454 [GRCh38] ChrX:153222905 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5777A>T (p.Tyr1926Phe) |
single nucleotide variant |
not provided [RCV001752714] |
ChrX:153950470 [GRCh38] ChrX:153215921 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1903G>C (p.Val635Leu) |
single nucleotide variant |
not provided [RCV001774319] |
ChrX:153958150 [GRCh38] ChrX:153223601 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4016A>C (p.Asn1339Thr) |
single nucleotide variant |
not provided [RCV001753929] |
ChrX:153954383 [GRCh38] ChrX:153219834 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3294G>A (p.Met1098Ile) |
single nucleotide variant |
not provided [RCV001763400] |
ChrX:153955105 [GRCh38] ChrX:153220556 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2690C>T (p.Ala897Val) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001801280] |
ChrX:153956357 [GRCh38] ChrX:153221808 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number gain |
46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) |
copy number loss |
Turner syndrome [RCV002280672] |
ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
NM_005334.3(HCFC1):c.4807A>G (p.Met1603Val) |
single nucleotide variant |
not provided [RCV001757947] |
ChrX:153952649 [GRCh38] ChrX:153218100 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.6089C>G (p.Ser2030Cys) |
single nucleotide variant |
not provided [RCV001816560] |
ChrX:153949366 [GRCh38] ChrX:153214817 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5173G>A (p.Asp1725Asn) |
single nucleotide variant |
not provided [RCV001806291] |
ChrX:153951928 [GRCh38] ChrX:153217379 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5772C>G (p.Ser1924=) |
single nucleotide variant |
not provided [RCV001816561] |
ChrX:153950475 [GRCh38] ChrX:153215926 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1716G>A (p.Ala572=) |
single nucleotide variant |
not specified [RCV001817346] |
ChrX:153958656 [GRCh38] ChrX:153224107 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3337G>C (p.Glu1113Gln) |
single nucleotide variant |
not specified [RCV001817394] |
ChrX:153955062 [GRCh38] ChrX:153220513 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002077287]|not specified [RCV001817492] |
ChrX:153950358 [GRCh38] ChrX:153215809 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.3122C>T (p.Pro1041Leu) |
single nucleotide variant |
not provided [RCV001806534] |
ChrX:153955277 [GRCh38] ChrX:153220728 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV001834509] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_005334.3(HCFC1):c.4210G>C (p.Gly1404Arg) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002011196] |
ChrX:153954189 [GRCh38] ChrX:153219640 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:152970475-153524157) |
copy number gain |
not specified [RCV002053204] |
ChrX:152970475..153524157 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153105394-153421839) |
copy number gain |
not specified [RCV002053207] |
ChrX:153105394..153421839 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153135263-153594168) |
copy number gain |
not specified [RCV002053209] |
ChrX:153135263..153594168 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.5097_5126dup (p.Gln1699_Gln1708dup) |
duplication |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002047547] |
ChrX:153951974..153951975 [GRCh38] ChrX:153217425..153217426 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153093501-153792322)x2 |
copy number gain |
not provided [RCV001834439] |
ChrX:153093501..153792322 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003170133]|Methylmalonic acidemia with homocystinuria, type cblX [RCV002004490]|not provided [RCV003438907] |
ChrX:153954795 [GRCh38] ChrX:153220246 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NC_000023.10:g.(?_152986307)_(153593345_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001967054] |
ChrX:152986307..153593345 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153113943-153624020) |
copy number gain |
not specified [RCV002053208] |
ChrX:153113943..153624020 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.3754C>T (p.Pro1252Ser) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002037382] |
ChrX:153954645 [GRCh38] ChrX:153220096 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002039949] |
ChrX:153954788 [GRCh38] ChrX:153220239 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His) |
single nucleotide variant |
not specified [RCV001844619] |
ChrX:153954347 [GRCh38] ChrX:153219798 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
not provided [RCV001829212] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_005334.3(HCFC1):c.1762A>G (p.Thr588Ala) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002029382] |
ChrX:153958610 [GRCh38] ChrX:153224061 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.503+6G>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001839152] |
ChrX:153964118 [GRCh38] ChrX:153229569 [GRCh37] ChrX:Xq28 |
uncertain significance |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV001839062] |
ChrX:140888048..154656872 [GRCh38] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152740984-153431748)x2 |
copy number gain |
not provided [RCV001829153] |
ChrX:152740984..153431748 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.3314C>T (p.Ser1105Leu) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001952310] |
ChrX:153955085 [GRCh38] ChrX:153220536 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001985463] |
ChrX:153951909 [GRCh38] ChrX:153217360 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1222A>G (p.Thr408Ala) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001880782] |
ChrX:153960024 [GRCh38] ChrX:153225475 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4417A>G (p.Thr1473Ala) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001964912] |
ChrX:153953687 [GRCh38] ChrX:153219138 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3880T>C (p.Cys1294Arg) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001971639] |
ChrX:153954519 [GRCh38] ChrX:153219970 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1159G>A (p.Val387Met) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001884297] |
ChrX:153960087 [GRCh38] ChrX:153225538 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_152482081)_(153416424_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001953905] |
ChrX:152482081..153416424 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.3385G>A (p.Ala1129Thr) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001893512] |
ChrX:153955014 [GRCh38] ChrX:153220465 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002569176]|Methylmalonic acidemia with homocystinuria, type cblX [RCV001968446] |
ChrX:153952667 [GRCh38] ChrX:153218118 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4880C>T (p.Thr1627Met) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV001976369] |
ChrX:153952576 [GRCh38] ChrX:153218027 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3558G>A (p.Pro1186=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002190719] |
ChrX:153954841 [GRCh38] ChrX:153220292 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4926G>A (p.Ala1642=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002088519] |
ChrX:153952530 [GRCh38] ChrX:153217981 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.6068+13C>G |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002166698] |
ChrX:153949540 [GRCh38] ChrX:153214991 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1317G>A (p.Pro439=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002209352] |
ChrX:153959929 [GRCh38] ChrX:153225380 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1428C>T (p.Thr476=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002189528] |
ChrX:153959818 [GRCh38] ChrX:153225269 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4943-11C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002112653] |
ChrX:153952169 [GRCh38] ChrX:153217620 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.753G>A (p.Ala251=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002073897] |
ChrX:153962266 [GRCh38] ChrX:153227717 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3282C>T (p.Ala1094=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002126468] |
ChrX:153955117 [GRCh38] ChrX:153220568 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3987C>T (p.Thr1329=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002106300] |
ChrX:153954412 [GRCh38] ChrX:153219863 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1084+9G>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002107047] |
ChrX:153960226 [GRCh38] ChrX:153225677 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2154G>A (p.Ala718=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002104545] |
ChrX:153957513 [GRCh38] ChrX:153222964 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5160C>T (p.Ala1720=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002127424]|not provided [RCV003222393] |
ChrX:153951941 [GRCh38] ChrX:153217392 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.3603C>A (p.Pro1201=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002205085] |
ChrX:153954796 [GRCh38] ChrX:153220247 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1794G>C (p.Ser598=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002188514] |
ChrX:153958578 [GRCh38] ChrX:153224029 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.624C>T (p.Tyr208=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002071303] |
ChrX:153963313 [GRCh38] ChrX:153228764 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.6074C>G (p.Ser2025Cys) |
single nucleotide variant |
not provided [RCV002214559] |
ChrX:153949381 [GRCh38] ChrX:153214832 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5904C>T (p.Asn1968=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002115833] |
ChrX:153950343 [GRCh38] ChrX:153215794 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002131919] |
ChrX:153951895 [GRCh38] ChrX:153217346 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.684G>A (p.Arg228=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002213279] |
ChrX:153963253 [GRCh38] ChrX:153228704 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4896C>T (p.Ala1632=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002131999] |
ChrX:153952560 [GRCh38] ChrX:153218011 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.6069-5C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002078330] |
ChrX:153949391 [GRCh38] ChrX:153214842 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.5172C>T (p.Asn1724=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002131656] |
ChrX:153951929 [GRCh38] ChrX:153217380 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2857-20C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002090435] |
ChrX:153955562 [GRCh38] ChrX:153221013 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2955G>A (p.Pro985=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002218976] |
ChrX:153955444 [GRCh38] ChrX:153220895 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1894A>G (p.Ile632Val) |
single nucleotide variant |
not provided [RCV002221762] |
|
uncertain significance |
NM_005334.3(HCFC1):c.3941A>G (p.Gln1314Arg) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002200897] |
ChrX:153954458 [GRCh38] ChrX:153219909 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.504-5G>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002153959] |
ChrX:153963438 [GRCh38] ChrX:153228889 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1803+13C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002098218] |
ChrX:153958556 [GRCh38] ChrX:153224007 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1605+11G>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002162148] |
ChrX:153959320 [GRCh38] ChrX:153224771 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3455C>G (p.Ala1152Gly) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002164478] |
ChrX:153954944 [GRCh38] ChrX:153220395 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1085-15T>C |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002184293] |
ChrX:153960176 [GRCh38] ChrX:153225627 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5952C>T (p.Ala1984=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002139244] |
ChrX:153950295 [GRCh38] ChrX:153215746 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4806C>T (p.Leu1602=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002217127] |
ChrX:153952650 [GRCh38] ChrX:153218101 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3858C>T (p.Thr1286=) |
single nucleotide variant |
not specified [RCV002222884] |
ChrX:153954541 [GRCh38] ChrX:153219992 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4158C>G (p.Thr1386=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002136916] |
ChrX:153954241 [GRCh38] ChrX:153219692 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.5370C>T (p.Ser1790=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002160103] |
ChrX:153951598 [GRCh38] ChrX:153217049 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.6069-16T>C |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002181424] |
ChrX:153949402 [GRCh38] ChrX:153214853 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1713A>G (p.Pro571=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002161297] |
ChrX:153958659 [GRCh38] ChrX:153224110 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3371T>C (p.Met1124Thr) |
single nucleotide variant |
not provided [RCV003110044] |
ChrX:153955028 [GRCh38] ChrX:153220479 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153195397)_(153642547_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV003113631] |
ChrX:153195397..153642547 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.2353+6G>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003118145] |
ChrX:153957308 [GRCh38] ChrX:153222759 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_152954030)_(153283591_?)dup |
duplication |
Spastic paraplegia [RCV003111187]|not provided [RCV003111188] |
ChrX:152954030..153283591 [GRCh37] ChrX:Xq28 |
uncertain significance|no classifications from unflagged records |
NM_005334.3(HCFC1):c.3501A>C (p.Gln1167His) |
single nucleotide variant |
not provided [RCV003123207] |
ChrX:153954898 [GRCh38] ChrX:153220349 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153001546)_(154563736_?)dup |
duplication |
Adrenoleukodystrophy [RCV003119108] |
ChrX:153001546..154563736 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003120285] |
ChrX:153952818 [GRCh38] ChrX:153218269 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1642G>A (p.Ala548Thr) |
single nucleotide variant |
not provided [RCV003327753] |
ChrX:153958730 [GRCh38] ChrX:153224181 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2376C>G (p.Ile792Met) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003225869] |
ChrX:153957038 [GRCh38] ChrX:153222489 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3752A>G (p.Glu1251Gly) |
single nucleotide variant |
not provided [RCV003152002] |
ChrX:153954647 [GRCh38] ChrX:153220098 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5171A>G (p.Asn1724Ser) |
single nucleotide variant |
not provided [RCV003152118] |
ChrX:153951930 [GRCh38] ChrX:153217381 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1416T>G (p.Ile472Met) |
single nucleotide variant |
not provided [RCV002254113] |
ChrX:153959830 [GRCh38] ChrX:153225281 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003131101] |
ChrX:153955139 [GRCh38] ChrX:153220590 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number loss |
Turner syndrome [RCV002280668] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152815772-153624215) |
copy number gain |
Global developmental delay [RCV002280663] |
ChrX:152815772..153624215 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.5932G>A (p.Ala1978Thr) |
single nucleotide variant |
not provided [RCV002273364] |
ChrX:153950315 [GRCh38] ChrX:153215766 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1583C>T (p.Pro528Leu) |
single nucleotide variant |
X-linked intellectual disability [RCV002272889] |
ChrX:153959353 [GRCh38] ChrX:153224804 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003134413]|not specified [RCV002266412] |
ChrX:153953728 [GRCh38] ChrX:153219179 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5308G>A (p.Ala1770Thr) |
single nucleotide variant |
not provided [RCV002263574] |
ChrX:153951660 [GRCh38] ChrX:153217111 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4366G>T (p.Val1456Leu) |
single nucleotide variant |
not provided [RCV002265357] |
ChrX:153953738 [GRCh38] ChrX:153219189 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5354C>T (p.Ala1785Val) |
single nucleotide variant |
not provided [RCV002292193] |
ChrX:153951614 [GRCh38] ChrX:153217065 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 |
copy number loss |
See cases [RCV002292203] |
ChrX:142401540..155233731 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
NM_005334.3(HCFC1):c.1031G>A (p.Arg344His) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003130703]|not provided [RCV002269693] |
ChrX:153960288 [GRCh38] ChrX:153225739 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1888C>T (p.Arg630Cys) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002287199] |
ChrX:153958165 [GRCh38] ChrX:153223616 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 |
copy number loss |
See cases [RCV002286357] |
ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_005334.3(HCFC1):c.6061C>T (p.Pro2021Ser) |
single nucleotide variant |
not provided [RCV003235956] |
ChrX:153949560 [GRCh38] ChrX:153215011 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.6034C>G (p.Pro2012Ala) |
single nucleotide variant |
not provided [RCV002281532] |
ChrX:153949587 [GRCh38] ChrX:153215038 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1120C>T (p.Arg374Cys) |
single nucleotide variant |
not provided [RCV002265414] |
ChrX:153960126 [GRCh38] ChrX:153225577 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.790G>A (p.Gly264Arg) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003131100] |
ChrX:153962229 [GRCh38] ChrX:153227680 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu) |
single nucleotide variant |
HCFC1-related condition [RCV003396904]|Methylmalonic acidemia with homocystinuria, type cblX [RCV003131102] |
ChrX:153953629 [GRCh38] ChrX:153219080 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5302G>A (p.Val1768Met) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003131103] |
ChrX:153951666 [GRCh38] ChrX:153217117 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.109C>T (p.Arg37Cys) |
single nucleotide variant |
not provided [RCV003152162] |
ChrX:153970732 [GRCh38] ChrX:153236183 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3422C>G (p.Ala1141Gly) |
single nucleotide variant |
not provided [RCV002474154] |
ChrX:153954977 [GRCh38] ChrX:153220428 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5978C>T (p.Pro1993Leu) |
single nucleotide variant |
not provided [RCV002469606] |
ChrX:153950269 [GRCh38] ChrX:153215720 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 |
copy number loss |
not provided [RCV002474567] |
ChrX:124749464..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
NM_005334.3(HCFC1):c.745G>A (p.Gly249Arg) |
single nucleotide variant |
not provided [RCV002300890] |
ChrX:153962274 [GRCh38] ChrX:153227725 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3485C>T (p.Ser1162Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002841641] |
ChrX:153954914 [GRCh38] ChrX:153220365 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4636G>A (p.Ala1546Thr) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003075614] |
ChrX:153952820 [GRCh38] ChrX:153218271 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.343-7T>G |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002730282] |
ChrX:153964291 [GRCh38] ChrX:153229742 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1023C>T (p.Asp341=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002974994] |
ChrX:153960296 [GRCh38] ChrX:153225747 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4521G>A (p.Ser1507=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002996844] |
ChrX:153952935 [GRCh38] ChrX:153218386 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4455C>G (p.Thr1485=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003016910] |
ChrX:153953649 [GRCh38] ChrX:153219100 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1804-14T>C |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003012136] |
ChrX:153958263 [GRCh38] ChrX:153223714 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2544T>G (p.Thr848=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002862389] |
ChrX:153956716 [GRCh38] ChrX:153222167 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5346C>T (p.Thr1782=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002993920] |
ChrX:153951622 [GRCh38] ChrX:153217073 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5553G>T (p.Leu1851=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002903568] |
ChrX:153950963 [GRCh38] ChrX:153216414 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.3839G>C (p.Cys1280Ser) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002838660] |
ChrX:153954560 [GRCh38] ChrX:153220011 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1300G>A (p.Ala434Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002907107] |
ChrX:153959946 [GRCh38] ChrX:153225397 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2667C>A (p.Thr889=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002843404] |
ChrX:153956380 [GRCh38] ChrX:153221831 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4639G>T (p.Val1547Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002992484] |
ChrX:153952817 [GRCh38] ChrX:153218268 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4532G>A (p.Arg1511His) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002637932] |
ChrX:153952924 [GRCh38] ChrX:153218375 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5166T>C (p.Ser1722=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002927713] |
ChrX:153951935 [GRCh38] ChrX:153217386 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.5726C>G (p.Thr1909Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003002280]|Methylmalonic acidemia with homocystinuria, type cblX [RCV003002279] |
ChrX:153950521 [GRCh38] ChrX:153215972 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3584C>T (p.Pro1195Leu) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003055642] |
ChrX:153954815 [GRCh38] ChrX:153220266 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3666C>T (p.Ser1222=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002785971] |
ChrX:153954733 [GRCh38] ChrX:153220184 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1659C>T (p.Ala553=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002590721] |
ChrX:153958713 [GRCh38] ChrX:153224164 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3658C>T (p.Leu1220=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003019972] |
ChrX:153954741 [GRCh38] ChrX:153220192 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5114C>T (p.Ala1705Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002925739] |
ChrX:153951987 [GRCh38] ChrX:153217438 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3723C>T (p.Ala1241=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003078805] |
ChrX:153954676 [GRCh38] ChrX:153220127 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.465G>A (p.Leu155=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002619747] |
ChrX:153964162 [GRCh38] ChrX:153229613 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.202C>G (p.Gln68Glu) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV003037107] |
ChrX:153964718 [GRCh38] ChrX:153230169 [GRCh37] ChrX:Xq28 |
not provided |
NM_005334.3(HCFC1):c.3564G>A (p.Ser1188=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002659697] |
ChrX:153954835 [GRCh38] ChrX:153220286 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.5201A>G (p.Asn1734Ser) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003077845] |
ChrX:153951900 [GRCh38] ChrX:153217351 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.5260+7G>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002948739] |
ChrX:153951834 [GRCh38] ChrX:153217285 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.307T>C (p.Tyr103His) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV003037110] |
ChrX:153964613 [GRCh38] ChrX:153230064 [GRCh37] ChrX:Xq28 |
not provided |
NM_005334.3(HCFC1):c.2636-10T>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002866143] |
ChrX:153956421 [GRCh38] ChrX:153221872 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3708G>C (p.Ala1236=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002913456] |
ChrX:153954691 [GRCh38] ChrX:153220142 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5392C>A (p.Pro1798Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002797865] |
ChrX:153951475 [GRCh38] ChrX:153216926 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4455C>T (p.Thr1485=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002866435] |
ChrX:153953649 [GRCh38] ChrX:153219100 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3981G>A (p.Thr1327=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002913008] |
ChrX:153954418 [GRCh38] ChrX:153219869 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4497+18C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002637400] |
ChrX:153953589 [GRCh38] ChrX:153219040 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3807_3812del (p.1270VT[1]) |
deletion |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002570849] |
ChrX:153954587..153954592 [GRCh38] ChrX:153220038..153220043 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.193+16G>T |
single nucleotide variant |
not specified [RCV002510306] |
ChrX:153970632 [GRCh38] ChrX:153236083 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.4550G>T (p.Arg1517Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002702173] |
ChrX:153952906 [GRCh38] ChrX:153218357 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.323A>G (p.Asn108Ser) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003084313] |
ChrX:153964597 [GRCh38] ChrX:153230048 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5260+17G>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002985622] |
ChrX:153951824 [GRCh38] ChrX:153217275 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3719C>T (p.Ala1240Val) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002642226]|not provided [RCV003439031] |
ChrX:153954680 [GRCh38] ChrX:153220131 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4481C>T (p.Pro1494Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002892357] |
ChrX:153953623 [GRCh38] ChrX:153219074 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3995C>T (p.Thr1332Met) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003024620] |
ChrX:153954404 [GRCh38] ChrX:153219855 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4907A>G (p.Gln1636Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002697820] |
ChrX:153952549 [GRCh38] ChrX:153218000 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2796G>A (p.Ser932=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003025852] |
ChrX:153956251 [GRCh38] ChrX:153221702 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1302A>G (p.Ala434=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002933130] |
ChrX:153959944 [GRCh38] ChrX:153225395 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.22_24del (p.Ala8del) |
deletion |
Inborn genetic diseases [RCV002743282] |
ChrX:153970817..153970819 [GRCh38] ChrX:153236268..153236270 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5229T>C (p.Thr1743=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002872302] |
ChrX:153951872 [GRCh38] ChrX:153217323 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4670C>T (p.Ser1557Leu) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002790290] |
ChrX:153952786 [GRCh38] ChrX:153218237 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.5763C>T (p.Ile1921=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002918277] |
ChrX:153950484 [GRCh38] ChrX:153215935 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2456C>G (p.Pro819Arg) |
single nucleotide variant |
not provided [RCV002508637] |
ChrX:153956958 [GRCh38] ChrX:153222409 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2577C>T (p.Pro859=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003065252]|not provided [RCV003435862] |
ChrX:153956683 [GRCh38] ChrX:153222134 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.1085-20C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003026595] |
ChrX:153960181 [GRCh38] ChrX:153225632 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4948G>A (p.Gly1650Ser) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002599359] |
ChrX:153952153 [GRCh38] ChrX:153217604 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2736C>T (p.Thr912=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002632482] |
ChrX:153956311 [GRCh38] ChrX:153221762 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1881G>A (p.Thr627=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003090359] |
ChrX:153958172 [GRCh38] ChrX:153223623 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.343G>A (p.Ala115Thr) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV003060001] |
ChrX:153964284 [GRCh38] ChrX:153229735 [GRCh37] ChrX:Xq28 |
not provided |
NM_005334.3(HCFC1):c.2029-12del |
deletion |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003062331] |
ChrX:153957898 [GRCh38] ChrX:153223349 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.349C>T (p.Arg117Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002717486] |
ChrX:153964278 [GRCh38] ChrX:153229729 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1444+10G>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002578631] |
ChrX:153959792 [GRCh38] ChrX:153225243 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.264G>A (p.Val88=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002628519] |
ChrX:153964656 [GRCh38] ChrX:153230107 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4036G>A (p.Glu1346Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002747419] |
ChrX:153954363 [GRCh38] ChrX:153219814 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5016C>T (p.Ala1672=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002646400] |
ChrX:153952085 [GRCh38] ChrX:153217536 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3811A>G (p.Thr1271Ala) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003063902] |
ChrX:153954588 [GRCh38] ChrX:153220039 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5704-11C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003028095] |
ChrX:153950554 [GRCh38] ChrX:153216005 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4575A>G (p.Thr1525=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002895832]|not provided [RCV003434518] |
ChrX:153952881 [GRCh38] ChrX:153218332 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.797+20C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003090393] |
ChrX:153962202 [GRCh38] ChrX:153227653 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5772C>T (p.Ser1924=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002963097] |
ChrX:153950475 [GRCh38] ChrX:153215926 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.2984C>G (p.Thr995Ser) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002770704] |
ChrX:153955415 [GRCh38] ChrX:153220866 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002922791] |
ChrX:153955427 [GRCh38] ChrX:153220878 [GRCh37] ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity |
NM_005334.3(HCFC1):c.712+9GGT[3] |
microsatellite |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002921868] |
ChrX:153963210..153963211 [GRCh38] ChrX:153228661..153228662 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4063C>T (p.Arg1355Cys) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003088656] |
ChrX:153954336 [GRCh38] ChrX:153219787 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.6094G>A (p.Ala2032Thr) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002600383] |
ChrX:153949361 [GRCh38] ChrX:153214812 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2586C>T (p.Val862=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002585764] |
ChrX:153956674 [GRCh38] ChrX:153222125 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3506G>A (p.Arg1169His) |
single nucleotide variant |
Inborn genetic diseases [RCV002723529]|Methylmalonic acidemia with homocystinuria, type cblX [RCV003130873] |
ChrX:153954893 [GRCh38] ChrX:153220344 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1228A>G (p.Thr410Ala) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002606408] |
ChrX:153960018 [GRCh38] ChrX:153225469 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5819_5839dup (p.Leu1946_Ala1947insGlySerThrProAlaGlnLeu) |
duplication |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003071590] |
ChrX:153950407..153950408 [GRCh38] ChrX:153215858..153215859 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.6068+20C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002609622] |
ChrX:153949533 [GRCh38] ChrX:153214984 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4716C>G (p.Val1572=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002609623] |
ChrX:153952740 [GRCh38] ChrX:153218191 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.588A>G (p.Leu196=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002589610] |
ChrX:153963349 [GRCh38] ChrX:153228800 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1215G>A (p.Thr405=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003073304] |
ChrX:153960031 [GRCh38] ChrX:153225482 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3233C>T (p.Pro1078Leu) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002588894] |
ChrX:153955166 [GRCh38] ChrX:153220617 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.712+11T>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003051416] |
ChrX:153963214 [GRCh38] ChrX:153228665 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.504-13C>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002610087] |
ChrX:153963446 [GRCh38] ChrX:153228897 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4995G>A (p.Ala1665=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV002612439]|not provided [RCV003434589] |
ChrX:153952106 [GRCh38] ChrX:153217557 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.2945T>C (p.Leu982Pro) |
single nucleotide variant |
not provided [RCV003327756] |
ChrX:153955454 [GRCh38] ChrX:153220905 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4097_4099del (p.Gly1366_Thr1367delinsAla) |
deletion |
not provided [RCV003227446] |
ChrX:153954300..153954302 [GRCh38] ChrX:153219751..153219753 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4613C>T (p.Ser1538Phe) |
single nucleotide variant |
not provided [RCV003227306] |
ChrX:153952843 [GRCh38] ChrX:153218294 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1534G>T (p.Ala512Ser) |
single nucleotide variant |
not provided [RCV003229170] |
ChrX:153959402 [GRCh38] ChrX:153224853 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3353A>G (p.Asn1118Ser) |
single nucleotide variant |
not provided [RCV003225335] |
ChrX:153955046 [GRCh38] ChrX:153220497 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5244C>T (p.Pro1748=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003135516] |
ChrX:153951857 [GRCh38] ChrX:153217308 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4064G>A (p.Arg1355His) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003135517] |
ChrX:153954335 [GRCh38] ChrX:153219786 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3707C>T (p.Ala1236Val) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003135518] |
ChrX:153954692 [GRCh38] ChrX:153220143 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3980C>T (p.Thr1327Met) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003135519] |
ChrX:153954419 [GRCh38] ChrX:153219870 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5305G>A (p.Val1769Met) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003135520] |
ChrX:153951663 [GRCh38] ChrX:153217114 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4619C>G (p.Thr1540Ser) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003135521] |
ChrX:153952837 [GRCh38] ChrX:153218288 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003135523] |
ChrX:153952729 [GRCh38] ChrX:153218180 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5477C>T (p.Thr1826Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003203708] |
ChrX:153951390 [GRCh38] ChrX:153216841 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3685C>T (p.Pro1229Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003203789] |
ChrX:153954714 [GRCh38] ChrX:153220165 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.932T>C (p.Met311Thr) |
single nucleotide variant |
not provided [RCV003227156] |
ChrX:153960387 [GRCh38] ChrX:153225838 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4237_4239dup (p.Thr1413_Gln1414insThr) |
duplication |
not provided [RCV003321314] |
ChrX:153954159..153954160 [GRCh38] ChrX:153219610..153219611 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5539G>A (p.Asp1847Asn) |
single nucleotide variant |
not provided [RCV003319744] |
ChrX:153950977 [GRCh38] ChrX:153216428 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.614C>G (p.Ala205Gly) |
single nucleotide variant |
not provided [RCV003327877] |
ChrX:153963323 [GRCh38] ChrX:153228774 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5828C>G (p.Pro1943Arg) |
single nucleotide variant |
not provided [RCV003319072] |
ChrX:153950419 [GRCh38] ChrX:153215870 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1852G>A (p.Gly618Arg) |
single nucleotide variant |
not provided [RCV003325084] |
ChrX:153958201 [GRCh38] ChrX:153223652 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153217915-153618382)x2 |
copy number gain |
Syndromic X-linked intellectual disability Lubs type [RCV003329498] |
ChrX:153217915..153618382 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.5260+4A>G |
single nucleotide variant |
not provided [RCV003329820] |
ChrX:153951837 [GRCh38] ChrX:153217288 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3749G>C (p.Gly1250Ala) |
single nucleotide variant |
not provided [RCV003325710] |
ChrX:153954650 [GRCh38] ChrX:153220101 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3464C>T (p.Ala1155Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003372090] |
ChrX:153954935 [GRCh38] ChrX:153220386 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5323C>G (p.Leu1775Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003376745] |
ChrX:153951645 [GRCh38] ChrX:153217096 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4658G>A (p.Gly1553Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003375845] |
ChrX:153952798 [GRCh38] ChrX:153218249 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4657G>A (p.Gly1553Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003362069] |
ChrX:153952799 [GRCh38] ChrX:153218250 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1456G>C (p.Val486Leu) |
single nucleotide variant |
X-linked intellectual disability [RCV003458972] |
ChrX:153959480 [GRCh38] ChrX:153224931 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3718G>A (p.Ala1240Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003351483] |
ChrX:153954681 [GRCh38] ChrX:153220132 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His) |
single nucleotide variant |
Inborn genetic diseases [RCV003349152] |
ChrX:153954641 [GRCh38] ChrX:153220092 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5249C>T (p.Thr1750Met) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003873465] |
ChrX:153951852 [GRCh38] ChrX:153217303 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.2343G>A (p.Ala781=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003874572] |
ChrX:153957324 [GRCh38] ChrX:153222775 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.927C>T (p.Ile309=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003874040] |
ChrX:153960392 [GRCh38] ChrX:153225843 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.978C>T (p.Cys326=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003873717] |
ChrX:153960341 [GRCh38] ChrX:153225792 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4965C>T (p.Thr1655=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003874353] |
ChrX:153952136 [GRCh38] ChrX:153217587 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4535A>T (p.Gln1512Leu) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003874712] |
ChrX:153952921 [GRCh38] ChrX:153218372 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.3888C>T (p.Thr1296=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003874054] |
ChrX:153954511 [GRCh38] ChrX:153219962 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4540C>T (p.Leu1514=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003875460] |
ChrX:153952916 [GRCh38] ChrX:153218367 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3292A>G (p.Met1098Val) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003874047] |
ChrX:153955107 [GRCh38] ChrX:153220558 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq28(chrX:152916854-154775938)x2 |
copy number gain |
not provided [RCV003483986] |
ChrX:152916854..154775938 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.3738C>T (p.Ser1246=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003873164] |
ChrX:153954661 [GRCh38] ChrX:153220112 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq28(chrX:152707335-153624154)x2 |
copy number gain |
not provided [RCV003483984] |
ChrX:152707335..153624154 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152941303-153549189)x2 |
copy number gain |
not provided [RCV003483987] |
ChrX:152941303..153549189 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.2863T>A (p.Ser955Thr) |
single nucleotide variant |
not provided [RCV003443631] |
ChrX:153955536 [GRCh38] ChrX:153220987 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3868T>C (p.Ser1290Pro) |
single nucleotide variant |
not provided [RCV003443883] |
ChrX:153954531 [GRCh38] ChrX:153219982 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 |
copy number loss |
not provided [RCV003483929] |
ChrX:118576752..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
NM_005334.3(HCFC1):c.3510G>C (p.Gln1170His) |
single nucleotide variant |
not provided [RCV003480418] |
ChrX:153954889 [GRCh38] ChrX:153220340 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5709G>A (p.Pro1903=) |
single nucleotide variant |
not provided [RCV003432644] |
ChrX:153950538 [GRCh38] ChrX:153215989 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 |
copy number loss |
not provided [RCV003483930] |
ChrX:119071609..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
NM_005334.3(HCFC1):c.17C>T (p.Ser6Leu) |
single nucleotide variant |
not provided [RCV003442270] |
ChrX:153970824 [GRCh38] ChrX:153236275 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 |
copy number loss |
not provided [RCV003483936] |
ChrX:148598351..154943978 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.4620C>T (p.Thr1540=) |
single nucleotide variant |
not provided [RCV003432647] |
ChrX:153952836 [GRCh38] ChrX:153218287 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3812C>T (p.Thr1271Ile) |
single nucleotide variant |
not provided [RCV003441256] |
ChrX:153954587 [GRCh38] ChrX:153220038 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4203C>G (p.Pro1401=) |
single nucleotide variant |
not specified [RCV003405102] |
ChrX:153954196 [GRCh38] ChrX:153219647 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1956A>T (p.Thr652=) |
single nucleotide variant |
not provided [RCV003440018] |
ChrX:153958097 [GRCh38] ChrX:153223548 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2636-5_2723delinsACCTT |
indel |
not provided [RCV003441187] |
ChrX:153956324..153956416 [GRCh38] ChrX:153221775..153221867 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1616G>A (p.Ser539Asn) |
single nucleotide variant |
not provided [RCV003440019] |
ChrX:153958756 [GRCh38] ChrX:153224207 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1131C>G (p.Thr377=) |
single nucleotide variant |
not provided [RCV003440021] |
ChrX:153960115 [GRCh38] ChrX:153225566 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.627C>T (p.Thr209=) |
single nucleotide variant |
not provided [RCV003440022] |
ChrX:153963310 [GRCh38] ChrX:153228761 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.189C>T (p.Asn63=) |
single nucleotide variant |
not provided [RCV003440023] |
ChrX:153970652 [GRCh38] ChrX:153236103 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.42T>G (p.Leu14=) |
single nucleotide variant |
not provided [RCV003440024] |
ChrX:153970799 [GRCh38] ChrX:153236250 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5379+8G>A |
single nucleotide variant |
not specified [RCV003404956] |
ChrX:153951581 [GRCh38] ChrX:153217032 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5287G>A (p.Ala1763Thr) |
single nucleotide variant |
not specified [RCV003388443] |
ChrX:153951681 [GRCh38] ChrX:153217132 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr) |
single nucleotide variant |
HCFC1-related condition [RCV003419150] |
ChrX:153951988 [GRCh38] ChrX:153217439 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4129C>T (p.Leu1377Phe) |
single nucleotide variant |
not provided [RCV003440014] |
ChrX:153954270 [GRCh38] ChrX:153219721 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys) |
single nucleotide variant |
not provided [RCV003440015] |
ChrX:153954423 [GRCh38] ChrX:153219874 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.3756C>A (p.Pro1252=) |
single nucleotide variant |
not provided [RCV003440016] |
ChrX:153954643 [GRCh38] ChrX:153220094 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1545C>T (p.Thr515=) |
single nucleotide variant |
not provided [RCV003440020] |
ChrX:153959391 [GRCh38] ChrX:153224842 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5217G>A (p.Thr1739=) |
single nucleotide variant |
not provided [RCV003432645] |
ChrX:153951884 [GRCh38] ChrX:153217335 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=) |
single nucleotide variant |
HCFC1-related condition [RCV003418775] |
ChrX:153954910 [GRCh38] ChrX:153220361 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4639G>A (p.Val1547Met) |
single nucleotide variant |
not provided [RCV003432646] |
ChrX:153952817 [GRCh38] ChrX:153218268 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2892G>A (p.Thr964=) |
single nucleotide variant |
not provided [RCV003440017] |
ChrX:153955507 [GRCh38] ChrX:153220958 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2856+17G>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003879466] |
ChrX:153956174 [GRCh38] ChrX:153221625 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.306G>A (p.Glu102=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003876799] |
ChrX:153964614 [GRCh38] ChrX:153230065 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5260+16C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003879518] |
ChrX:153951825 [GRCh38] ChrX:153217276 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.5655G>A (p.Thr1885=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003878047] |
ChrX:153950861 [GRCh38] ChrX:153216312 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.3708G>T (p.Ala1236=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003877443] |
ChrX:153954691 [GRCh38] ChrX:153220142 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2496+17C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003876010] |
ChrX:153956901 [GRCh38] ChrX:153222352 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4333+9A>G |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003879327] |
ChrX:153954057 [GRCh38] ChrX:153219508 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4200C>T (p.Thr1400=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003876036] |
ChrX:153954199 [GRCh38] ChrX:153219650 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4386C>T (p.Asp1462=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003877467] |
ChrX:153953718 [GRCh38] ChrX:153219169 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2532C>T (p.Thr844=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003879652] |
ChrX:153956728 [GRCh38] ChrX:153222179 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.6090T>C (p.Ser2030=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003879171] |
ChrX:153949365 [GRCh38] ChrX:153214816 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1002G>A (p.Leu334=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003876564] |
ChrX:153960317 [GRCh38] ChrX:153225768 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.789C>T (p.Ile263=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003879119] |
ChrX:153962230 [GRCh38] ChrX:153227681 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2496+18G>A |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003876555] |
ChrX:153956900 [GRCh38] ChrX:153222351 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1104C>G (p.Ala368=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003876622] |
ChrX:153960142 [GRCh38] ChrX:153225593 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4437A>G (p.Thr1479=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003879456] |
ChrX:153953667 [GRCh38] ChrX:153219118 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.2857-18C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003877841] |
ChrX:153955560 [GRCh38] ChrX:153221011 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1498T>C (p.Leu500=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003876733] |
ChrX:153959438 [GRCh38] ChrX:153224889 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1833G>A (p.Lys611=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003877213] |
ChrX:153958220 [GRCh38] ChrX:153223671 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.3398G>A (p.Arg1133Gln) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003879416] |
ChrX:153955001 [GRCh38] ChrX:153220452 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.402G>A (p.Pro134=) |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003875895] |
ChrX:153964225 [GRCh38] ChrX:153229676 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.904+13C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003878759] |
ChrX:153961529 [GRCh38] ChrX:153226980 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4943-18C>T |
single nucleotide variant |
Methylmalonic acidemia with homocystinuria, type cblX [RCV003879628] |
ChrX:153952176 [GRCh38] ChrX:153217627 [GRCh37] ChrX:Xq28 |
likely benign |