NM_002049.4(GATA1):c.220+1del |
deletion |
Anemia without thromobocytopenia, X-linked [RCV000024619]|GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144254] |
ChrX:48791329 [GRCh38] ChrX:48649736 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_002049.3(GATA1):c.646C>T (p.Arg216Trp) |
single nucleotide variant |
Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [RCV000024620] |
ChrX:48792370 [GRCh38] ChrX:48650777 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_002049.3(GATA1):c.613G>A (p.Val205Met) |
single nucleotide variant |
Dyserythropoietic anemia with thrombocytopenia [RCV000011168]|GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144255] |
ChrX:48792337 [GRCh38] ChrX:48650744 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_002049.3(GATA1):c.653A>G (p.Asp218Gly) |
single nucleotide variant |
GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144258]|Thrombocytopenia [RCV000852181]|Thrombocytopenia, X-linked, without dyserythropoietic anemia [RCV000011169] |
ChrX:48792377 [GRCh38] ChrX:48650784 [GRCh37] ChrX:Xp11.23 |
pathogenic|likely pathogenic |
NM_002049.3(GATA1):c.622_623delinsTC (p.Gly208Ser) |
indel |
GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144256]|Thrombocytopenia, X-linked, without dyserythropoietic anemia [RCV000011170] |
ChrX:48792346..48792347 [GRCh38] ChrX:48650753..48650754 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_002049.3(GATA1):c.184_187dup (p.Tyr63fs) |
duplication |
Leukemia, megakaryoblastic, of Down syndrome [RCV000011171] |
ChrX:48791292..48791293 [GRCh38] ChrX:48649699..48649700 [GRCh37] ChrX:Xp11.23 |
pathogenic|other |
NM_002049.3(GATA1):c.652G>T (p.Asp218Tyr) |
single nucleotide variant |
Dyserythropoietic anemia with thrombocytopenia [RCV000011172]|GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144259] |
ChrX:48792376 [GRCh38] ChrX:48650783 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_002049.3(GATA1):c.647G>A (p.Arg216Gln) |
single nucleotide variant |
Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [RCV000011173] |
ChrX:48792371 [GRCh38] ChrX:48650778 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_002049.3(GATA1):c.154_173dup (p.Ala59fs) |
duplication |
Acute megakaryoblastic leukemia [RCV000011174] |
ChrX:48791260..48791261 [GRCh38] ChrX:48649667..48649668 [GRCh37] ChrX:Xp11.23 |
pathogenic|other |
GATA1, 332G-C |
single nucleotide variant |
Anemia without thromobocytopenia, X-linked [RCV000011175]|X-linked anemia without thromobocytopenia [RCV000011175] |
ChrX:Xp11.23 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 |
copy number gain |
See cases [RCV000133911] |
ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
NM_002049.3(GATA1):c.21del (p.Ser8fs) |
deletion |
GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000544726] |
ChrX:48791127 [GRCh38] ChrX:48649534 [GRCh37] ChrX:Xp11.23 |
pathogenic |
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 Xp22.33-q28(chrX:20140-155699618)x3 |
copy number gain |
See cases [RCV000050810] |
ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 |
copy number loss |
See cases [RCV000050811] |
ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000050699] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
Global developmental delay [RCV000050386]|See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000050697] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 |
copy number loss |
See cases [RCV000051026] |
ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22 |
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: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: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 Xp11.23-11.22(chrX:47859417-52789530)x3 |
copy number gain |
See cases [RCV000052390] |
ChrX:47859417..52789530 [GRCh38] ChrX:47835880..52818575 [GRCh37] ChrX:47603760..52835300 [NCBI36] ChrX:Xp11.23-11.22 |
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 Xp11.23-11.22(chrX:48344666-52664916)x2 |
copy number gain |
See cases [RCV000051992] |
ChrX:48344666..52664916 [GRCh38] ChrX:48204101..52616581 [GRCh37] ChrX:48089045..52710691 [NCBI36] ChrX:Xp11.23-11.22 |
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-q22.1(chrX:675360-100368517)x1 |
copy number loss |
See cases [RCV000053005] |
ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1 |
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 Xp22.33-11.21(chrX:26102-57302794)x1 |
copy number loss |
See cases [RCV000052990] |
ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 |
copy number loss |
See cases [RCV000052994] |
ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 |
copy number loss |
See cases [RCV000053007] |
ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] |
ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp11.23(chrX:48612125-49292405)x2 |
copy number gain |
See cases [RCV000054185] |
ChrX:48612125..49292405 [GRCh38] ChrX:48510591..49148873 [GRCh37] ChrX:48355457..49035817 [NCBI36] ChrX:Xp11.23 |
uncertain significance |
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 |
copy number gain |
See cases [RCV000053817] |
ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
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_002049.3(GATA1):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Anemia without thromobocytopenia, X-linked [RCV000754842]|GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144252] |
ChrX:48791111 [GRCh38] ChrX:48649518 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_002049.3(GATA1):c.220G>C (p.Val74Leu) |
single nucleotide variant |
Anemia without thromobocytopenia, X-linked [RCV000011175]|GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144253] |
ChrX:48791329 [GRCh38] ChrX:48649736 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_002049.3(GATA1):c.220+1delG |
deletion |
GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144254] |
ChrX:48791330 [GRCh38] ChrX:48649737 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_002049.3(GATA1):c.622G>C (p.Gly208Arg) |
single nucleotide variant |
GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144257] |
ChrX:48792346 [GRCh38] ChrX:48650753 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_002049.3(GATA1):c.994G>T (p.Gly332Cys) |
single nucleotide variant |
GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144260] |
ChrX:48793916 [GRCh38] ChrX:48652323 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_002049.3(GATA1):c.1240T>C (p.Ter414Arg) |
single nucleotide variant |
GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144261]|Thrombocytopenia [RCV001003925] |
ChrX:48794162 [GRCh38] ChrX:48652569 [GRCh37] ChrX:Xp11.23 |
pathogenic|likely 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 Xp22.33-11.22(chrX:10701-52857805)x1 |
copy number loss |
See cases [RCV000133817] |
ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22 |
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)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 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 |
copy number loss |
See cases [RCV000133745] |
ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23 |
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 Xp22.33-q11.1(chrX:10701-62712219)x1 |
copy number loss |
See cases [RCV000134568] |
ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1 |
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 Xp22.33-11.21(chrX:10701-58055053)x1 |
copy number loss |
See cases [RCV000134026] |
ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21 |
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 Xp22.31-11.22(chrX:8176030-53962833)x1 |
copy number loss |
See cases [RCV000135305] |
ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22 |
pathogenic |
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 |
copy number gain |
See cases [RCV000134956] |
ChrX:43361870..50931794 [GRCh38] ChrX:43221119..50674794 [GRCh37] ChrX:43106063..50691534 [NCBI36] ChrX:Xp11.3-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 |
copy number gain |
See cases [RCV000134957] |
ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3 |
copy number gain |
See cases [RCV000135801] |
ChrX:48022053..52664916 [GRCh38] ChrX:47881447..52616581 [GRCh37] ChrX:47766391..52710691 [NCBI36] ChrX:Xp11.23-11.22 |
pathogenic|uncertain significance |
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 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 Xp22.33-q28(chrX:10701-156003229)x1 |
copy number loss |
See cases [RCV000136097] |
ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) |
copy number loss |
See cases [RCV000136094] |
ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25 |
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 Xp11.23-11.21(chrX:48344666-58055036)x3 |
copy number gain |
See cases [RCV000135958] |
ChrX:48344666..58055036 [GRCh38] ChrX:48204101..58081470 [GRCh37] ChrX:48089045..58098195 [NCBI36] ChrX:Xp11.23-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 |
copy number loss |
See cases [RCV000137112] |
ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic|uncertain significance |
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 |
copy number gain |
See cases [RCV000137137] |
ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3 |
pathogenic|likely benign |
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 Xp11.23-11.22(chrX:48260861-52664916)x2 |
copy number gain |
See cases [RCV000136829] |
ChrX:48260861..52664916 [GRCh38] ChrX:48120296..52616581 [GRCh37] ChrX:48005240..52710691 [NCBI36] ChrX:Xp11.23-11.22 |
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 Xp22.33-11.22(chrX:10701-52033734)x1 |
copy number loss |
See cases [RCV000137430] |
ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 |
copy number loss |
See cases [RCV000137552] |
ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 |
copy number loss |
See cases [RCV000137166] |
ChrX:10679..49157514 [GRCh38] ChrX:60679..49016667 [GRCh37] ChrX:679..48903611 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 |
copy number loss |
See cases [RCV000137413] |
ChrX:10701..49071220 [GRCh38] ChrX:60701..48928877 [GRCh37] ChrX:701..48815821 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 |
copy number gain |
See cases [RCV000137271] |
ChrX:44765664..49343053 [GRCh38] ChrX:44624910..49218180 [GRCh37] ChrX:44509854..49105124 [NCBI36] ChrX:Xp11.3-11.23 |
likely pathogenic |
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 |
copy number gain |
See cases [RCV000138106] |
ChrX:48429509..52664916 [GRCh38] ChrX:48287896..52616581 [GRCh37] ChrX:48172840..52710691 [NCBI36] ChrX:Xp11.23-11.22 |
pathogenic|likely pathogenic |
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 |
copy number loss |
See cases [RCV000138107] |
ChrX:48429509..52664916 [GRCh38] ChrX:48287896..52693966 [GRCh37] ChrX:48172840..52710691 [NCBI36] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 |
copy number loss |
See cases [RCV000137886] |
ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3 |
pathogenic |
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 |
copy number loss |
See cases [RCV000138678] |
ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3 |
pathogenic |
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 |
copy number loss |
See cases [RCV000139343] |
ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1 |
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 Xp22.33-q21.31(chrX:10701-88318651)x1 |
copy number loss |
See cases [RCV000139352] |
ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31 |
pathogenic |
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2 |
copy number gain |
See cases [RCV000139185] |
ChrX:48386298..52664916 [GRCh38] ChrX:48245740..52616581 [GRCh37] ChrX:48130684..52710691 [NCBI36] ChrX:Xp11.23-11.22 |
pathogenic|uncertain significance |
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 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 Xp22.33-11.22(chrX:10701-53750424)x1 |
copy number loss |
See cases [RCV000140711] |
ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22 |
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 Xp22.33-11.22(chrX:251879-50289363)x1 |
copy number loss |
See cases [RCV000141741] |
ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 |
copy number gain |
See cases [RCV000141567] |
ChrX:46971389..54130971 [GRCh38] ChrX:46818746..53957191 [GRCh37] ChrX:46703690..54174129 [NCBI36] ChrX:Xp11.3-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 |
copy number loss |
See cases [RCV000142334] |
ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 |
copy number loss |
See cases [RCV000142035] |
ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 |
copy number gain |
See cases [RCV000142134] |
ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24 |
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 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 Xp22.33-11.22(chrX:10701-53131191)x1 |
copy number loss |
See cases [RCV000143348] |
ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 |
copy number loss |
See cases [RCV000143130] |
ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21 |
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 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 |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_002049.3(GATA1):c.163G>A (p.Ala55Thr) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV000228015]|not specified [RCV000121144] |
ChrX:48791272 [GRCh38] ChrX:48649679 [GRCh37] ChrX:Xp11.23 |
benign|not provided |
NM_002049.3(GATA1):c.949C>T (p.Arg317Trp) |
single nucleotide variant |
not specified [RCV000121145] |
ChrX:48793871 [GRCh38] ChrX:48652278 [GRCh37] ChrX:Xp11.23 |
not provided |
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 |
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 |
copy number loss |
See cases [RCV000239814] |
ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1 |
copy number loss |
See cases [RCV000203435] |
ChrX:48310313..52614698 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic|uncertain significance |
NM_002049.3(GATA1):c.89C>G (p.Ser30Ter) |
single nucleotide variant |
GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000552766] |
ChrX:48791198 [GRCh38] ChrX:48649605 [GRCh37] ChrX:Xp11.23 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 |
copy number gain |
See cases [RCV000239834] |
ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
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 Xp11.3-q21.1(chrX:44734936-79676121)x3 |
copy number gain |
See cases [RCV000240019] |
ChrX:44734936..79676121 [GRCh37] ChrX:Xp11.3-q21.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 |
copy number gain |
See cases [RCV000240106] |
ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 |
copy number loss |
See cases [RCV000239902] |
ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 |
copy number gain |
See cases [RCV000239989] |
ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 |
copy number gain |
See cases [RCV000240541] |
ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_002049.3(GATA1):c.174G>A (p.Ala58=) |
single nucleotide variant |
not specified [RCV000244516] |
ChrX:48791283 [GRCh38] ChrX:48649690 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_002049.3(GATA1):c.1173G>A (p.Thr391=) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV000863524]|not specified [RCV000252528] |
ChrX:48794095 [GRCh38] ChrX:48652502 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_002049.3(GATA1):c.-19-5C>T |
single nucleotide variant |
not specified [RCV000247974] |
ChrX:48791086 [GRCh38] ChrX:48649493 [GRCh37] ChrX:Xp11.23 |
likely benign |
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:225816-155234036)x2 |
copy number gain |
See cases [RCV000240464] |
ChrX:225816..155234036 [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 Xp22.2-q25(chrX:11692290-121187337)x2 |
copy number gain |
not provided [RCV000488046] |
ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25 |
uncertain significance |
NM_002049.3(GATA1):c.419G>A (p.Arg140Gln) |
single nucleotide variant |
GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000640922] |
ChrX:48792042 [GRCh38] ChrX:48650449 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_002049.3(GATA1):c.64G>A (p.Ala22Thr) |
single nucleotide variant |
GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000640925] |
ChrX:48791173 [GRCh38] ChrX:48649580 [GRCh37] ChrX:Xp11.23 |
benign |
NM_002049.3(GATA1):c.1092C>G (p.Tyr364Ter) |
single nucleotide variant |
not provided [RCV000578997] |
ChrX:48794014 [GRCh38] ChrX:48652421 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_002049.3(GATA1):c.94G>A (p.Val32Ile) |
single nucleotide variant |
Complete trisomy 21 syndrome [RCV000766096]|Diamond-Blackfan anemia [RCV000533431] |
ChrX:48791203 [GRCh38] ChrX:48649610 [GRCh37] ChrX:Xp11.23 |
benign|uncertain significance |
NM_002049.3(GATA1):c.919C>T (p.Arg307Cys) |
single nucleotide variant |
not specified [RCV000412884] |
ChrX:48793841 [GRCh38] ChrX:48652248 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 |
copy number loss |
not provided [RCV000753275] |
ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_002049.3(GATA1):c.622G>A (p.Gly208Arg) |
single nucleotide variant |
not provided [RCV000414345] |
ChrX:48792346 [GRCh38] ChrX:48650753 [GRCh37] ChrX:Xp11.23 |
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 Xp22.33-q28(chrX:168546-154930047)x3 |
copy number gain |
See cases [RCV000449437] |
ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3 |
copy number gain |
See cases [RCV000449147] |
ChrX:48317353..51497588 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
See cases [RCV000449330] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 |
copy number loss |
See cases [RCV000446197] |
ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 |
copy number loss |
See cases [RCV000446584] |
ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21 |
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 Xp22.33-11.21(chrX:168546-56684082)x1 |
copy number loss |
See cases [RCV000447092] |
ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 |
copy number loss |
See cases [RCV000447470] |
ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22 |
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 Xp22.33-q28(chrX:168546-155081533)x3 |
copy number gain |
See cases [RCV000447253] |
ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2 |
copy number gain |
See cases [RCV000447617] |
ChrX:48317353..51497588 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 |
copy number gain |
See cases [RCV000446270] |
ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 |
copy number loss |
See cases [RCV000446712] |
ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 |
copy number loss |
See cases [RCV000446026] |
ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
See cases [RCV000448393] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 |
copy number gain |
See cases [RCV000448034] |
ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 |
copy number loss |
See cases [RCV000448652] |
ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 |
copy number loss |
See cases [RCV000447773] |
ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
NM_002049.3(GATA1):c.479A>G (p.Asn160Ser) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV000457001] |
ChrX:48792102 [GRCh38] ChrX:48650509 [GRCh37] ChrX:Xp11.23 |
benign|uncertain significance |
NM_002049.3(GATA1):c.892C>T (p.Arg298Trp) |
single nucleotide variant |
GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000471862] |
ChrX:48793814 [GRCh38] ChrX:48652221 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 |
copy number loss |
See cases [RCV000512136] |
ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_002049.3(GATA1):c.418C>T (p.Arg140Trp) |
single nucleotide variant |
not provided [RCV000479104] |
ChrX:48792041 [GRCh38] ChrX:48650448 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_002049.3(GATA1):c.113C>T (p.Pro38Leu) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV000532112]|not specified [RCV000500961] |
ChrX:48791222 [GRCh38] ChrX:48649629 [GRCh37] ChrX:Xp11.23 |
benign|likely benign|uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 |
copy number loss |
See cases [RCV000510382] |
ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_002049.3(GATA1):c.982G>A (p.Glu328Lys) |
single nucleotide variant |
not specified [RCV000499462] |
ChrX:48793904 [GRCh38] ChrX:48652311 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 |
copy number loss |
See cases [RCV000510419] |
ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23 |
pathogenic |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 |
copy number loss |
See cases [RCV000510437] |
ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 |
copy number loss |
See cases [RCV000512022] |
ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 |
copy number loss |
See cases [RCV000511413] |
ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic |
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 |
copy number loss |
See cases [RCV000512026] |
ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1 |
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_002049.3(GATA1):c.520T>C (p.Ser174Pro) |
single nucleotide variant |
not provided [RCV000493228] |
ChrX:48792143 [GRCh38] ChrX:48650550 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 |
copy number loss |
See cases [RCV000511615] |
ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 |
copy number gain |
See cases [RCV000511234] |
ChrX:46326268..48801984 [GRCh37] ChrX:Xp11.3-11.23 |
likely pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 |
copy number loss |
See cases [RCV000510822] |
ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_002049.3(GATA1):c.212A>G (p.His71Arg) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV000640924] |
ChrX:48791321 [GRCh38] ChrX:48649728 [GRCh37] ChrX:Xp11.23 |
benign |
NC_000023.10:g.(?_48542223)_(48768933_?)dup |
duplication |
SLC35A2-CDG [RCV000651314] |
ChrX:48542223..48768933 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) |
copy number loss |
See cases [RCV000512142] |
ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3 |
pathogenic |
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 |
copy number gain |
See cases [RCV000512224] |
ChrX:48224454..52813336 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
NM_002049.3(GATA1):c.242T>C (p.Leu81Pro) |
single nucleotide variant |
not provided [RCV000640921] |
ChrX:48791865 [GRCh38] ChrX:48650272 [GRCh37] ChrX:Xp11.23 |
likely benign|uncertain significance |
NM_002049.3(GATA1):c.480T>G (p.Asn160Lys) |
single nucleotide variant |
GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000640923] |
ChrX:48792103 [GRCh38] ChrX:48650510 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 |
copy number gain |
See cases [RCV000512561] |
ChrX:48290189..52154997 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 |
copy number loss |
See cases [RCV000512339] |
ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 |
copy number gain |
not provided [RCV000684261] |
ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31 |
pathogenic |
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 |
copy number loss |
not provided [RCV000684331] |
ChrX:48156672..52672728 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
NM_002049.3(GATA1):c.220+1G>C |
single nucleotide variant |
GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000687498] |
ChrX:48791330 [GRCh38] ChrX:48649737 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_002049.3(GATA1):c.529G>A (p.Gly177Arg) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV000695247] |
ChrX:48792152 [GRCh38] ChrX:48650559 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_002049.3(GATA1):c.94dup (p.Val32fs) |
duplication |
GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000685793] |
ChrX:48791199..48791200 [GRCh38] ChrX:48649606..48649607 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_002049.3(GATA1):c.824G>C (p.Gly275Ala) |
single nucleotide variant |
Macrothrombocytopenia [RCV000852233] |
ChrX:48793251 [GRCh38] ChrX:48651658 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 |
copy number loss |
not provided [RCV000753535] |
ChrX:48115450..73424191 [GRCh37] ChrX:Xp11.23-q13.2 |
pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 |
copy number loss |
not provided [RCV000753274] |
ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 |
copy number loss |
not provided [RCV000753271] |
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 |
Autistic disorder of childhood onset [RCV000754365] |
ChrX:1..156040895 [GRCh38] 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:60814-155236712)x2 |
copy number gain |
not provided [RCV000753276] |
ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NC_000023.10:g.36649710_136649711del100000002insG |
indel |
Heterotaxy, visceral, 1, X-linked [RCV000754886] |
ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3 |
pathogenic |
NM_002049.4(GATA1):c.266G>A (p.Gly89Glu) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV001068369] |
ChrX:48791889 [GRCh38] ChrX:48650296 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NC_000023.10:g.(?_48543926)_(48652581_?)dup |
duplication |
Diamond-Blackfan anemia [RCV001033332] |
ChrX:48543926..48652581 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_002049.4(GATA1):c.361G>A (p.Val121Met) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV000867424] |
ChrX:48791984 [GRCh38] ChrX:48650391 [GRCh37] ChrX:Xp11.23 |
benign |
NM_002049.4(GATA1):c.1045G>A (p.Val349Met) |
single nucleotide variant |
not provided [RCV000866495] |
ChrX:48793967 [GRCh38] ChrX:48652374 [GRCh37] ChrX:Xp11.23 |
benign |
NM_002049.4(GATA1):c.150G>A (p.Pro50=) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV000946004] |
ChrX:48791259 [GRCh38] ChrX:48649666 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_002049.4(GATA1):c.798G>A (p.Thr266=) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV000866919] |
ChrX:48793225 [GRCh38] ChrX:48651632 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_002049.4(GATA1):c.621C>T (p.Cys207=) |
single nucleotide variant |
not provided [RCV000866279] |
ChrX:48792345 [GRCh38] ChrX:48650752 [GRCh37] ChrX:Xp11.23 |
likely benign |
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 |
copy number loss |
not provided [RCV001007224] |
ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_002049.3(GATA1):c.752_754delinsTT (p.Ser251fs) |
indel |
Diamond-Blackfan anemia [RCV000807395] |
ChrX:48793179..48793181 [GRCh38] ChrX:48651586..48651588 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) |
copy number gain |
not provided [RCV000767648] |
ChrX:43507300..48929622 [GRCh37] ChrX:Xp11.3-11.23 |
pathogenic |
NM_002049.4(GATA1):c.822T>C (p.Ser274=) |
single nucleotide variant |
not provided [RCV000875102] |
ChrX:48793249 [GRCh38] ChrX:48651656 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_002049.4(GATA1):c.93G>T (p.Gly31=) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV000864137] |
ChrX:48791202 [GRCh38] ChrX:48649609 [GRCh37] ChrX:Xp11.23 |
benign |
46,Y,inv(X)(p21.1q13.3) |
inversion |
Elevated serum creatine phosphokinase [RCV000856573] |
ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3 |
likely pathogenic |
NM_002049.4(GATA1):c.201G>A (p.Glu67=) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV000862074] |
ChrX:48791310 [GRCh38] ChrX:48649717 [GRCh37] ChrX:Xp11.23 |
benign |
NM_002049.4(GATA1):c.942A>G (p.Lys314=) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV000868358] |
ChrX:48793864 [GRCh38] ChrX:48652271 [GRCh37] ChrX:Xp11.23 |
benign |
NM_002049.4(GATA1):c.870+8C>T |
single nucleotide variant |
Diamond-Blackfan anemia [RCV000875456] |
ChrX:48793305 [GRCh38] ChrX:48651712 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_002049.3(GATA1):c.166_187dup (p.Tyr63fs) |
duplication |
Diamond-Blackfan anemia [RCV000801573] |
ChrX:48791272..48791273 [GRCh38] ChrX:48649679..48649680 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_002049.3(GATA1):c.5_8dup (p.Phe3fs) |
duplication |
Diamond-Blackfan anemia [RCV000817722] |
ChrX:48791113..48791114 [GRCh38] ChrX:48649520..48649521 [GRCh37] ChrX:Xp11.23 |
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_002049.4(GATA1):c.744+5G>A |
single nucleotide variant |
not provided [RCV000875677] |
ChrX:48792473 [GRCh38] ChrX:48650880 [GRCh37] ChrX:Xp11.23 |
benign |
NM_002049.4(GATA1):c.745-9G>A |
single nucleotide variant |
Diamond-Blackfan anemia [RCV000863327] |
ChrX:48793163 [GRCh38] ChrX:48651570 [GRCh37] ChrX:Xp11.23 |
benign |
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 |
copy number loss |
See cases [RCV000790583] |
ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
NM_002049.4(GATA1):c.207C>T (p.Tyr69=) |
single nucleotide variant |
not provided [RCV000976931] |
ChrX:48791316 [GRCh38] ChrX:48649723 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_002049.4(GATA1):c.571C>T (p.Arg191Cys) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV000862181] |
ChrX:48792194 [GRCh38] ChrX:48650601 [GRCh37] ChrX:Xp11.23 |
benign |
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 |
copy number loss |
not provided [RCV000845670] |
ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32 |
pathogenic |
GRCh37/hg19 Xp11.23(chrX:48491182-48772769)x3 |
copy number gain |
not provided [RCV000845674] |
ChrX:48491182..48772769 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_002049.3(GATA1):c.816T>A (p.Asn272Lys) |
single nucleotide variant |
Thrombocytopenia [RCV000852229] |
ChrX:48793243 [GRCh38] ChrX:48651650 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_002049.4(GATA1):c.337C>T (p.Arg113Cys) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV001224446] |
ChrX:48791960 [GRCh38] ChrX:48650367 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV001224493] |
ChrX:48791144 [GRCh38] ChrX:48649551 [GRCh37] ChrX:Xp11.23 |
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 |
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 |
copy number gain |
not provided [RCV000847795] |
ChrX:48224266..52744574 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 |
copy number loss |
not provided [RCV000846273] |
ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1 |
pathogenic |
NM_002049.3(GATA1):c.652G>A (p.Asp218Asn) |
single nucleotide variant |
Macrothrombocytopenia [RCV000852178] |
ChrX:48792376 [GRCh38] ChrX:48650783 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_002049.4(GATA1):c.220+1G>A |
single nucleotide variant |
Diamond-Blackfan anemia [RCV001229278] |
ChrX:48791330 [GRCh38] ChrX:48649737 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_002049.4(GATA1):c.282C>T (p.Ala94=) |
single nucleotide variant |
not provided [RCV000953934] |
ChrX:48791905 [GRCh38] ChrX:48650312 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_002049.4(GATA1):c.501C>T (p.Asp167=) |
single nucleotide variant |
not provided [RCV000877522] |
ChrX:48792124 [GRCh38] ChrX:48650531 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_002049.4(GATA1):c.98dup (p.Phe34fs) |
duplication |
Diamond-Blackfan anemia [RCV001068825] |
ChrX:48791203..48791204 [GRCh38] ChrX:48649610..48649611 [GRCh37] ChrX:Xp11.23 |
pathogenic |
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 |
copy number gain |
not provided [RCV001007303] |
ChrX:48307437..50657313 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
NM_002049.4(GATA1):c.1024G>A (p.Gly342Ser) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV001053750] |
ChrX:48793946 [GRCh38] ChrX:48652353 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV001216171] |
ChrX:48793866 [GRCh38] ChrX:48652273 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_002049.4(GATA1):c.49C>T (p.Gln17Ter) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV001216172] |
ChrX:48791158 [GRCh38] ChrX:48649565 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_002049.4(GATA1):c.950G>A (p.Arg317Gln) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV001245788] |
ChrX:48793872 [GRCh38] ChrX:48652279 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_002049.4(GATA1):c.680C>T (p.Ala227Val) |
single nucleotide variant |
Anemia [RCV001003924] |
ChrX:48792404 [GRCh38] ChrX:48650811 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_002049.4(GATA1):c.152G>A (p.Ser51Asn) |
single nucleotide variant |
Diamond-Blackfan anemia [RCV001038757] |
ChrX:48791261 [GRCh38] ChrX:48649668 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 |
copy number gain |
not provided [RCV001258953] |
ChrX:48102202..52685635 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 |
copy number gain |
not provided [RCV001258954] |
ChrX:48178413..52686510 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 |
copy number loss |
See cases [RCV001263061] |
ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 |
copy number loss |
not provided [RCV001281358] |
ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |