NM_001367721.1(CASK):c.1411G>A (p.Asp471Asn) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000718966]|Mental retardation, CASK-related, X-linked [RCV000551457] |
ChrX:41578432 [GRCh38] ChrX:41437685 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys) |
single nucleotide variant |
FG syndrome 4 [RCV000022829]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000193589] |
ChrX:41534946 [GRCh38] ChrX:41394199 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic |
NM_003688.3(CASK):c.2506-2A>T |
single nucleotide variant |
FG syndrome 4 [RCV000022830]|not specified [RCV000145403] |
ChrX:41524036 [GRCh38] ChrX:41383289 [GRCh37] ChrX:Xp11.4 |
pathogenic|benign |
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000022831]|not provided [RCV000522520] |
ChrX:41745564 [GRCh38] ChrX:41604817 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NG_016754.1:g.5000-?_5105+?del |
deletion |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000022832] |
ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000022833] |
ChrX:41561588 [GRCh38] ChrX:41420841 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_003688.3(CASK):c.2327_2328del (p.Asp776fs) |
deletion |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000723311] |
ChrX:41531184..41531185 [GRCh38] ChrX:41390437..41390438 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001367721.1(CASK):c.2175T>C (p.Leu725=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720727]|Mental retardation, CASK-related, X-linked [RCV000553027] |
ChrX:41534954 [GRCh38] ChrX:41394207 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_003688.3(CASK):c.1186C>T (p.Pro396Ser) |
single nucleotide variant |
FG syndrome 4 [RCV000012292]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000990800]|Mental retardation, CASK-related, X-linked [RCV001086366]|not provided [RCV000733420] |
ChrX:41589562 [GRCh38] ChrX:41448815 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000012286]|not provided [RCV000255325] |
ChrX:41553843 [GRCh38] ChrX:41413096 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_003688.3(CASK):c.915G>A (p.Lys305=) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000012287] |
ChrX:41636578 [GRCh38] ChrX:41495831 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.83G>T (p.Arg28Leu) |
single nucleotide variant |
FG syndrome 4 [RCV000012288] |
ChrX:41853204 [GRCh38] ChrX:41712457 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.802T>C (p.Tyr268His) |
single nucleotide variant |
FG syndrome 4 [RCV000012289] |
ChrX:41660468 [GRCh38] ChrX:41519721 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly) |
single nucleotide variant |
FG syndrome 4 [RCV000012290]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000760252] |
ChrX:41542717 [GRCh38] ChrX:41401970 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic |
NM_001367721.1(CASK):c.2755T>C (p.Trp919Arg) |
single nucleotide variant |
FG syndrome 4 [RCV000012291] |
ChrX:41520446 [GRCh38] ChrX:41379699 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_003688.3(CASK):c.2573C>T (p.Thr858Ile) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000554466] |
ChrX:41523967 [GRCh38] ChrX:41383220 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.278+16743C>T |
single nucleotide variant |
Lung cancer [RCV000102598] |
ChrX:41770435 [GRCh38] ChrX:41629688 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
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:10679-156013167)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:10679-156022206)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)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:26101-155999293)x3 |
copy number gain |
See cases [RCV000052322] |
ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 |
copy number gain |
See cases [RCV000052359] |
ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] |
ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 |
copy number gain |
See cases [RCV000052324] |
ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 |
copy number gain |
See cases [RCV000052328] |
ChrX:675360..46016699 [GRCh38] ChrX:636095..45876134 [GRCh37] ChrX:556095..45761078 [NCBI36] ChrX:Xp22.33-11.3 |
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 Xp11.4-11.23(chrX:41434043-47880733)x1 |
copy number loss |
See cases [RCV000053088] |
ChrX:41434043..47880733 [GRCh38] ChrX:41293296..47619970 [GRCh37] ChrX:41178240..47625076 [NCBI36] ChrX:Xp11.4-11.23 |
pathogenic |
GRCh38/hg38 Xp11.4(chrX:41534941-41915080)x1 |
copy number loss |
See cases [RCV000053089] |
ChrX:41534941..41915080 [GRCh38] ChrX:41394194..41774333 [GRCh37] ChrX:41279138..41659277 [NCBI36] ChrX:Xp11.4 |
pathogenic |
GRCh38/hg38 Xp11.4(chrX:41615487-41836444)x1 |
copy number loss |
See cases [RCV000053091] |
ChrX:41615487..41836444 [GRCh38] ChrX:41474740..41695697 [GRCh37] ChrX:41359684..41580641 [NCBI36] ChrX:Xp11.4 |
pathogenic |
GRCh38/hg38 Xp11.4-11.3(chrX:41823849-44240337)x1 |
copy number loss |
See cases [RCV000053092] |
ChrX:41823849..44240337 [GRCh38] ChrX:41683102..44099583 [GRCh37] ChrX:41568046..43984527 [NCBI36] ChrX:Xp11.4-11.3 |
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 Xp22.33-11.23(chrX:10679-48344725)x1 |
copy number loss |
See cases [RCV000052981] |
ChrX:10679..48344725 [GRCh38] ChrX:60679..48204160 [GRCh37] ChrX:679..48089104 [NCBI36] ChrX:Xp22.33-11.23 |
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 Xp22.33-11.21(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: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-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 Xp11.4-11.3(chrX:41431518-43256505)x2 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054169]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054169]|See cases [RCV000054169] |
ChrX:41431518..43256505 [GRCh38] ChrX:41290771..43115754 [GRCh37] ChrX:41175715..43000698 [NCBI36] ChrX:Xp11.4-11.3 |
uncertain significance |
GRCh38/hg38 Xp11.4(chrX:41630750-41807553)x3 |
copy number gain |
See cases [RCV000054170] |
ChrX:41630750..41807553 [GRCh38] ChrX:41490003..41666806 [GRCh37] ChrX:41374947..41551750 [NCBI36] ChrX:Xp11.4 |
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 |
NM_003688.3(CASK):c.1890C>T (p.Leu630=) |
single nucleotide variant |
Malignant melanoma [RCV000073193] |
ChrX:41553868 [GRCh38] ChrX:41413121 [GRCh37] ChrX:41298065 [NCBI36] ChrX:Xp11.4 |
not provided |
NM_003688.3(CASK):c.1034-6C>T |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000550250]|not specified [RCV000080346] |
ChrX:41610031 [GRCh38] ChrX:41469284 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001367721.1(CASK):c.1794C>T (p.Asn598=) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000552953]|not specified [RCV000080347] |
ChrX:41557044 [GRCh38] ChrX:41416297 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|uncertain significance |
NM_001367721.1(CASK):c.2317C>T (p.His773Tyr) |
single nucleotide variant |
not provided [RCV000080348] |
ChrX:41534706 [GRCh38] ChrX:41393959 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.356+6T>C |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001082975]|not provided [RCV000080349] |
ChrX:41745518 [GRCh38] ChrX:41604771 [GRCh37] ChrX:Xp11.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001367721.1(CASK):c.363T>C (p.Tyr121=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000716777]|Mental retardation, CASK-related, X-linked [RCV000559350]|not specified [RCV000080350] |
ChrX:41739450 [GRCh38] ChrX:41598703 [GRCh37] ChrX:Xp11.4 |
benign |
NM_003688.3(CASK):c.725G>A (p.Trp242Ter) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001253169] |
ChrX:41660545 [GRCh38] ChrX:41519798 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_003688.3(CASK):c.1504-15dup |
duplication |
Mental retardation, CASK-related, X-linked [RCV000872844]|not specified [RCV000175048] |
ChrX:41569751..41569752 [GRCh38] ChrX:41429005 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000718199]|Mental retardation, CASK-related, X-linked [RCV001079336]|not provided [RCV000865081]|not specified [RCV000174317] |
ChrX:41609982 [GRCh38] ChrX:41469235 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
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_001367721.1(CASK):c.79C>T (p.Arg27Ter) |
single nucleotide variant |
Congenital cerebellar hypoplasia [RCV001257954]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000175755]|not provided [RCV000723984] |
ChrX:41853208 [GRCh38] ChrX:41712461 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic |
NM_001367721.1(CASK):c.2486A>G (p.Gln829Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV000190700] |
ChrX:41531041 [GRCh38] ChrX:41390294 [GRCh37] ChrX:Xp11.4 |
likely pathogenic|uncertain significance |
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 |
NM_080817.5(GPR82):c.482G>T (p.Gly161Val) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149334] |
ChrX:41727508 [GRCh38] ChrX:41586761 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
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: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)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: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:26102-155996431)x3 |
copy number gain |
See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 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 |
NM_001367721.1(CASK):c.1419A>G (p.Pro473=) |
single nucleotide variant |
not provided [RCV000174884] |
ChrX:41578424 [GRCh38] ChrX:41437677 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1234-22G>A |
single nucleotide variant |
not specified [RCV000145391] |
ChrX:41587009 [GRCh38] ChrX:41446262 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001367721.1(CASK):c.1234-30G>A |
single nucleotide variant |
not specified [RCV000145392] |
ChrX:41587017 [GRCh38] ChrX:41446270 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001367721.1(CASK):c.1644_1645del (p.Val549fs) |
deletion |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145394] |
ChrX:41561582..41561583 [GRCh38] ChrX:41420835..41420836 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.2039G>C (p.Trp680Ser) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145395] |
ChrX:41553719 [GRCh38] ChrX:41412972 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.2040-9A>G |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000540540]|not specified [RCV000145396] |
ChrX:41542815 [GRCh38] ChrX:41402068 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145397]|not provided [RCV000263870] |
ChrX:41542805 [GRCh38] ChrX:41402058 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145398] |
ChrX:41542772 [GRCh38] ChrX:41402025 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic |
NM_001367721.1(CASK):c.20_27del (p.Leu7fs) |
deletion |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145399] |
ChrX:41922962..41922969 [GRCh38] ChrX:41782215..41782222 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.2198A>G (p.Lys733Arg) |
single nucleotide variant |
not specified [RCV000145400] |
ChrX:41534931 [GRCh38] ChrX:41394184 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001367721.1(CASK):c.2485C>T (p.Gln829Ter) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145402] |
ChrX:41531042 [GRCh38] ChrX:41390295 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.429+11419A>G |
single nucleotide variant |
not specified [RCV000145404] |
ChrX:41727965 [GRCh38] ChrX:41587218 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001367721.1(CASK):c.430-2A>T |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145406] |
ChrX:41671532 [GRCh38] ChrX:41530785 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145409] |
ChrX:41665368 [GRCh38] ChrX:41524621 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.708+1G>A |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145411] |
ChrX:41665276 [GRCh38] ChrX:41524529 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.764G>A (p.Arg255His) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145413]|not provided [RCV000494524] |
ChrX:41660506 [GRCh38] ChrX:41519759 [GRCh37] ChrX:Xp11.4 |
likely pathogenic|uncertain significance |
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145415]|not provided [RCV000430705] |
ChrX:41853205 [GRCh38] ChrX:41712458 [GRCh37] ChrX:Xp11.4 |
pathogenic|benign|conflicting interpretations of pathogenicity |
NM_001367721.1(CASK):c.880C>T (p.Gln294Ter) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145416] |
ChrX:41636613 [GRCh38] ChrX:41495866 [GRCh37] ChrX:Xp11.4 |
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 |
NM_001367721.1(CASK):c.1269C>T (p.Asn423=) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145393] |
ChrX:41586952 [GRCh38] ChrX:41446205 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2442G>A (p.Ala814=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000716787]|Mental retardation, CASK-related, X-linked [RCV000646777]|not specified [RCV000145401] |
ChrX:41531085 [GRCh38] ChrX:41390338 [GRCh37] ChrX:Xp11.4 |
benign|uncertain significance |
NM_001367721.1(CASK):c.600A>G (p.Val200=) |
single nucleotide variant |
not specified [RCV000145407] |
ChrX:41665385 [GRCh38] ChrX:41524638 [GRCh37] ChrX:Xp11.4 |
likely benign |
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 Xp22.33-11.21(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 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-q28(chrX:10701-156003242)x3 |
copy number gain |
See cases [RCV000133911] |
ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 |
copy number loss |
See cases [RCV000135300] |
ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 |
copy number loss |
See cases [RCV000135321] |
ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 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 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 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 Xp11.4(chrX:40883294-41689223)x2 |
copy number gain |
See cases [RCV000135419] |
ChrX:40883294..41689223 [GRCh38] ChrX:40742547..41548476 [GRCh37] ChrX:40627491..41433420 [NCBI36] ChrX:Xp11.4 |
uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 |
copy number loss |
See cases [RCV000136097] |
ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 |
copy number loss |
See cases [RCV000136478] |
ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 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 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 Xp22.33-11.22(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-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 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 Xp11.4(chrX:41592246-41619238)x1 |
copy number loss |
See cases [RCV000137558] |
ChrX:41592246..41619238 [GRCh38] ChrX:41451499..41478491 [GRCh37] ChrX:41336443..41363435 [NCBI36] ChrX:Xp11.4 |
likely benign|uncertain significance |
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: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 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 Xp11.4(chrX:41787211-41795764)x1 |
copy number loss |
See cases [RCV000138213] |
ChrX:41787211..41795764 [GRCh38] ChrX:41646464..41655017 [GRCh37] ChrX:41531408..41539961 [NCBI36] ChrX:Xp11.4 |
likely 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 |
NM_003688.3(CASK):c.1718C>T (p.Thr573Ile) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001084777]|not provided [RCV000175306] |
ChrX:41559798 [GRCh38] ChrX:41419051 [GRCh37] ChrX:Xp11.4 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
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 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 Xp11.4(chrX:41698827-41732124)x2 |
copy number gain |
See cases [RCV000140542] |
ChrX:41698827..41732124 [GRCh38] ChrX:41558080..41591377 [GRCh37] ChrX:41443024..41476321 [NCBI36] ChrX:Xp11.4 |
likely benign |
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 Xp11.4(chrX:41778639-41999565)x2 |
copy number gain |
See cases [RCV000140866] |
ChrX:41778639..41999565 [GRCh38] ChrX:41637892..41858818 [GRCh37] ChrX:41522836..41743762 [NCBI36] ChrX:Xp11.4 |
uncertain significance |
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 Xp11.4-11.3(chrX:41827804-43285505)x1 |
copy number loss |
See cases [RCV000141649] |
ChrX:41827804..43285505 [GRCh38] ChrX:41687057..43144754 [GRCh37] ChrX:41572001..43029698 [NCBI36] ChrX:Xp11.4-11.3 |
pathogenic |
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 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 |
NM_080817.5(GPR82):c.678C>A (p.Ser226Arg) |
single nucleotide variant |
not provided [RCV000515045] |
ChrX:41727704 [GRCh38] ChrX:41586957 [GRCh37] ChrX:Xp11.4 |
likely benign |
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 Xp11.4(chrX:41736613-41807412)x2 |
copy number gain |
See cases [RCV000143149] |
ChrX:41736613..41807412 [GRCh38] ChrX:41595866..41666665 [GRCh37] ChrX:41480810..41551609 [NCBI36] ChrX:Xp11.4 |
likely 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 |
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 |
NM_003688.3(CASK):c.1976G>A (p.Gly659Asp) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000157068] |
ChrX:41553782 [GRCh38] ChrX:41413035 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001086643]|not provided [RCV000723901]|not specified [RCV000152928] |
ChrX:41553836 [GRCh38] ChrX:41413089 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001367721.1(CASK):c.891A>G (p.Lys297=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000717454]|Mental retardation, CASK-related, X-linked [RCV001080077]|not provided [RCV000723800]|not specified [RCV000193643] |
ChrX:41636602 [GRCh38] ChrX:41495855 [GRCh37] ChrX:Xp11.4 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg) |
single nucleotide variant |
not provided [RCV000173304] |
ChrX:41922934 [GRCh38] ChrX:41782187 [GRCh37] ChrX:Xp11.4 |
likely pathogenic|uncertain significance |
NM_001367721.1(CASK):c.159G>T (p.Gly53=) |
single nucleotide variant |
not provided [RCV000175757] |
ChrX:41853128 [GRCh38] ChrX:41712381 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2325C>T (p.Thr775=) |
single nucleotide variant |
not specified [RCV000192500] |
ChrX:41531202 [GRCh38] ChrX:41390455 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2019T>G (p.Pro673=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000715919]|Mental retardation, CASK-related, X-linked [RCV000946229]|not specified [RCV000192552] |
ChrX:41553739 [GRCh38] ChrX:41412992 [GRCh37] ChrX:Xp11.4 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001367721.1(CASK):c.2521-2A>G |
single nucleotide variant |
Dystonia [RCV000626851]|not provided [RCV000255115] |
ChrX:41524036 [GRCh38] ChrX:41383289 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic |
NM_001367721.1(CASK):c.1125C>T (p.Phe375=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000716603]|Mental retardation, CASK-related, X-linked [RCV001083074]|not provided [RCV000526259]|not specified [RCV000193126] |
ChrX:41609934 [GRCh38] ChrX:41469187 [GRCh37] ChrX:Xp11.4 |
benign|uncertain significance |
NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter) |
single nucleotide variant |
Deficiency of butyrylcholine esterase [RCV000509534]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000193508] |
ChrX:41531135 [GRCh38] ChrX:41390388 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic|not provided |
NM_003688.3(CASK):c.2506-11_2506-10insTT |
insertion |
not provided [RCV000176655] |
ChrX:41524044..41524045 [GRCh38] ChrX:41383297..41383298 [GRCh37] ChrX:Xp11.4 |
other|not provided |
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_003688.3(CASK):c.2303-2A>G |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000198342] |
ChrX:41531211 [GRCh38] ChrX:41390464 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic |
NM_001367721.1(CASK):c.429+4del |
deletion |
not specified [RCV000192979] |
ChrX:41739380 [GRCh38] ChrX:41598633 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.1033+1G>A |
single nucleotide variant |
not provided [RCV000514194] |
ChrX:41622616 [GRCh38] ChrX:41481869 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001367721.1(CASK):c.2317+10G>C |
single nucleotide variant |
not specified [RCV000194468] |
ChrX:41534696 [GRCh38] ChrX:41393949 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1981del (p.Leu661fs) |
deletion |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000194542] |
ChrX:41553777 [GRCh38] ChrX:41413030 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.2544_2545AG[1] (p.Glu849fs) |
microsatellite |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000194553] |
ChrX:41524008..41524009 [GRCh38] ChrX:41383261..41383262 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.609G>A (p.Trp203Ter) |
single nucleotide variant |
not provided [RCV000255294] |
ChrX:41665376 [GRCh38] ChrX:41524629 [GRCh37] ChrX:Xp11.4 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 |
copy number gain |
See cases [RCV000239843] |
ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 |
copy number loss |
See cases [RCV000239814] |
ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
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_001367721.1(CASK):c.2527A>T (p.Lys843Ter) |
single nucleotide variant |
not provided [RCV000255475] |
ChrX:41524028 [GRCh38] ChrX:41383281 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.2344G>T (p.Glu782Ter) |
single nucleotide variant |
not provided [RCV000255476] |
ChrX:41531183 [GRCh38] ChrX:41390436 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.1289G>A (p.Arg430His) |
single nucleotide variant |
Inborn genetic diseases [RCV000210732]|Mental retardation, CASK-related, X-linked [RCV000872510] |
ChrX:41586932 [GRCh38] ChrX:41446185 [GRCh37] ChrX:Xp11.4 |
benign|uncertain significance |
NM_003688.3(CASK):c.1669-12dup |
duplication |
Mental retardation, CASK-related, X-linked [RCV001088617]|not provided [RCV000540173] |
ChrX:41559852..41559853 [GRCh38] ChrX:41419105..41419106 [GRCh37] ChrX:Xp11.4 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001097579.2(GPR34):c.884A>G (p.Asn295Ser) |
single nucleotide variant |
not provided [RCV000224283] |
ChrX:41696517 [GRCh38] ChrX:41555770 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
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 Xp11.4(chrX:41485589-41486197)x1 |
copy number loss |
See cases [RCV000239825] |
ChrX:41485589..41486197 [GRCh37] ChrX:Xp11.4 |
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:71267-155234036)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 |
NM_003688.3(CASK):c.109C>T (p.Gln37Ter) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000620583] |
ChrX:41853178 [GRCh38] ChrX:41712431 [GRCh37] ChrX:Xp11.4 |
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 |
NM_001367721.1(CASK):c.184del (p.Glu62fs) |
deletion |
not provided [RCV000520331] |
ChrX:41787272 [GRCh38] ChrX:41646525 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.2100G>A (p.Trp700Ter) |
single nucleotide variant |
not provided [RCV000256136] |
ChrX:41542746 [GRCh38] ChrX:41401999 [GRCh37] ChrX:Xp11.4 |
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_003688.3(CASK):c.344A>T (p.Glu115Val) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000543246]|not provided [RCV000347432] |
ChrX:41745536 [GRCh38] ChrX:41604789 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.720G>T (p.Arg240Ser) |
single nucleotide variant |
not provided [RCV000313777] |
ChrX:41660550 [GRCh38] ChrX:41519803 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2645T>G (p.Leu882Ter) |
single nucleotide variant |
not provided [RCV000334606] |
ChrX:41520556 [GRCh38] ChrX:41379809 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_003688.3(CASK):c.1669-9C>A |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000920192]|not specified [RCV000285805] |
ChrX:41559856 [GRCh38] ChrX:41419109 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003688.3(CASK):c.1315-10A>G |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001087999]|not provided [RCV000725078]|not specified [RCV000356667] |
ChrX:41578538 [GRCh38] ChrX:41437791 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001367721.1(CASK):c.523dup (p.Val175fs) |
duplication |
not provided [RCV000370759] |
ChrX:41671436..41671437 [GRCh38] ChrX:41530689..41530690 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.2270dup (p.Asn757fs) |
duplication |
not provided [RCV000399374] |
ChrX:41534752..41534753 [GRCh38] ChrX:41394005..41394006 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.429+1G>A |
single nucleotide variant |
not provided [RCV000402075] |
ChrX:41739383 [GRCh38] ChrX:41598636 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_003688.3(CASK):c.2302+9T>C |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001088165]|not provided [RCV000261997] |
ChrX:41534697 [GRCh38] ChrX:41393950 [GRCh37] ChrX:Xp11.4 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003688.3(CASK):c.2282G>A (p.Arg761Gln) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001087320]|not provided [RCV000514589] |
ChrX:41534726 [GRCh38] ChrX:41393979 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001367721.1(CASK):c.1390A>G (p.Thr464Ala) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000717862]|Mental retardation, CASK-related, X-linked [RCV001238872]|not provided [RCV000369557] |
ChrX:41578453 [GRCh38] ChrX:41437706 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
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_001367721.1(CASK):c.1700T>C (p.Ile567Thr) |
single nucleotide variant |
not provided [RCV000488408] |
ChrX:41559816 [GRCh38] ChrX:41419069 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.279T>C (p.Phe93=) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001216184]|not specified [RCV000601127] |
ChrX:41745601 [GRCh38] ChrX:41604854 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001367721.1(CASK):c.1224A>G (p.Arg408=) |
single nucleotide variant |
not provided [RCV000597422] |
ChrX:41589524 [GRCh38] ChrX:41448777 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1215A>G (p.Ala405=) |
single nucleotide variant |
not provided [RCV000593897] |
ChrX:41589533 [GRCh38] ChrX:41448786 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.846C>A (p.Tyr282Ter) |
single nucleotide variant |
not provided [RCV000578669] |
ChrX:41636647 [GRCh38] ChrX:41495900 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.553_565del (p.Phe185fs) |
deletion |
not provided [RCV000627465] |
ChrX:41665420..41665432 [GRCh38] ChrX:41524673..41524685 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000990797]|not provided [RCV000599298] |
ChrX:41561618 [GRCh38] ChrX:41420871 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic |
NM_001367721.1(CASK):c.1669-8C>G |
single nucleotide variant |
not provided [RCV000597316] |
ChrX:41559855 [GRCh38] ChrX:41419108 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1503+18G>C |
single nucleotide variant |
not specified [RCV000603168] |
ChrX:41578322 [GRCh38] ChrX:41437575 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001367721.1(CASK):c.2236+1delinsAT |
indel |
Congenital cerebellar hypoplasia [RCV000626850] |
ChrX:41534892 [GRCh38] ChrX:41394145 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_003688.3:c.116_117delCA |
deletion |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000415496] |
ChrX:Xp11.4 |
pathogenic |
NM_003688.3(CASK):c.42G>C (p.Leu14=) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001078764]|not provided [RCV000732452] |
ChrX:41922947 [GRCh38] ChrX:41782200 [GRCh37] ChrX:Xp11.4 |
benign|conflicting interpretations of pathogenicity|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_001367721.1(CASK):c.2383C>T (p.Gln795Ter) |
single nucleotide variant |
not provided [RCV000412809] |
ChrX:41531144 [GRCh38] ChrX:41390397 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.1503+3A>G |
single nucleotide variant |
not provided [RCV000732821] |
ChrX:41578337 [GRCh38] ChrX:41437590 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1098G>T (p.Lys366Asn) |
single nucleotide variant |
not provided [RCV000730789] |
ChrX:41609961 [GRCh38] ChrX:41469214 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1582G>A (p.Gly528Ser) |
single nucleotide variant |
not provided [RCV000414089] |
ChrX:41569668 [GRCh38] ChrX:41428921 [GRCh37] ChrX:Xp11.4 |
likely 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 |
NM_001367721.1(CASK):c.2155+2T>C |
single nucleotide variant |
not provided [RCV000523005] |
ChrX:41542689 [GRCh38] ChrX:41401942 [GRCh37] ChrX:Xp11.4 |
pathogenic |
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 |
copy number gain |
See cases [RCV000449393] |
ChrX:168546..43917011 [GRCh37] ChrX:Xp22.33-11.3 |
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 Xp22.33-q28(chrX:60701-155246225)x3 |
copy number gain |
See cases [RCV000446270] |
ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(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:2703632-155233731)x1 |
copy number loss |
See cases [RCV000446712] |
ChrX:2703632..155233731 [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-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 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 |
NM_001367721.1(CASK):c.2018C>T (p.Pro673Leu) |
single nucleotide variant |
not provided [RCV000443443] |
ChrX:41553740 [GRCh38] ChrX:41412993 [GRCh37] ChrX:Xp11.4 |
likely 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:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001367721.1(CASK):c.2039+15G>A |
single nucleotide variant |
not specified [RCV000434776] |
ChrX:41553704 [GRCh38] ChrX:41412957 [GRCh37] ChrX:Xp11.4 |
benign |
NM_003688.3(CASK):c.2418C>T (p.His806=) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000546336]|not specified [RCV000438704] |
ChrX:41531094 [GRCh38] ChrX:41390347 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001367721.1(CASK):c.1504-2A>C |
single nucleotide variant |
not provided [RCV000419173] |
ChrX:41569748 [GRCh38] ChrX:41429001 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.1717A>T (p.Thr573Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV000623320]|Mental retardation, CASK-related, X-linked [RCV001071225]|not provided [RCV000425433] |
ChrX:41559799 [GRCh38] ChrX:41419052 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.493G>C (p.Val165Leu) |
single nucleotide variant |
not provided [RCV000427392] |
ChrX:41671467 [GRCh38] ChrX:41530720 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1 |
copy number loss |
See cases [RCV000446005] |
ChrX:36667388..44316141 [GRCh37] ChrX:Xp21.1-11.3 |
pathogenic |
NM_001367721.1(CASK):c.1503+15A>G |
single nucleotide variant |
not specified [RCV000437501] |
ChrX:41578325 [GRCh38] ChrX:41437578 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_080817.5(GPR82):c.554G>A (p.Ser185Asn) |
single nucleotide variant |
not provided [RCV000441481] |
ChrX:41727580 [GRCh38] ChrX:41586833 [GRCh37] ChrX:Xp11.4 |
likely benign |
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 Xp22.33-11.1(chrX:168546-58140271)x1 |
copy number loss |
See cases [RCV000447773] |
ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1 |
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 Xp11.4-11.3(chrX:40933552-45379179)x2 |
copy number gain |
See cases [RCV000448864] |
ChrX:40933552..45379179 [GRCh37] ChrX:Xp11.4-11.3 |
likely pathogenic |
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_003688.3(CASK):c.1837C>T (p.Arg613Ter) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000502316]|not provided [RCV000481042] |
ChrX:41555605 [GRCh38] ChrX:41414858 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.2191_2193GTA[1] (p.Val732del) |
microsatellite |
not provided [RCV000481153] |
ChrX:41534933..41534935 [GRCh38] ChrX:41394186..41394188 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.2425G>A (p.Gly809Ser) |
single nucleotide variant |
not provided [RCV000481292] |
ChrX:41531102 [GRCh38] ChrX:41390355 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001367721.1(CASK):c.2155+4_2155+6delinsA |
indel |
not specified [RCV000479540] |
ChrX:41542685..41542687 [GRCh38] ChrX:41401938..41401940 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.524T>C (p.Val175Ala) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000685120]|not provided [RCV000483810] |
ChrX:41671436 [GRCh38] ChrX:41530689 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.430-27_430-20del |
microsatellite |
not specified [RCV000484120] |
ChrX:41671550..41671557 [GRCh38] ChrX:41530803..41530810 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001367721.1(CASK):c.1521G>T (p.Met507Ile) |
single nucleotide variant |
not provided [RCV000484373] |
ChrX:41569729 [GRCh38] ChrX:41428982 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1273G>A (p.Ala425Thr) |
single nucleotide variant |
not provided [RCV000485165] |
ChrX:41586948 [GRCh38] ChrX:41446201 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2174T>C (p.Leu725Pro) |
single nucleotide variant |
not provided [RCV000485912] |
ChrX:41534955 [GRCh38] ChrX:41394208 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.1480C>T (p.Gln494Ter) |
single nucleotide variant |
CASK-Related Disorder [RCV000509559]|not provided [RCV000485707] |
ChrX:41578363 [GRCh38] ChrX:41437616 [GRCh37] ChrX:Xp11.4 |
pathogenic|not provided |
NM_001367721.1(CASK):c.763C>T (p.Arg255Cys) |
single nucleotide variant |
not provided [RCV000485733] |
ChrX:41660507 [GRCh38] ChrX:41519760 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic |
NM_001367721.1(CASK):c.974C>A (p.Pro325His) |
single nucleotide variant |
not provided [RCV000482216] |
ChrX:41626645 [GRCh38] ChrX:41485898 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2397C>G (p.Asp799Glu) |
single nucleotide variant |
not provided [RCV000482321] |
ChrX:41531130 [GRCh38] ChrX:41390383 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1586C>A (p.Thr529Lys) |
single nucleotide variant |
not provided [RCV000486489] |
ChrX:41561641 [GRCh38] ChrX:41420894 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.59+2T>C |
single nucleotide variant |
not provided [RCV000480109] |
ChrX:41922928 [GRCh38] ChrX:41782181 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.430-31TGTT[2] |
microsatellite |
not specified [RCV000483223] |
ChrX:41671550..41671553 [GRCh38] ChrX:41530803..41530806 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001367721.1(CASK):c.2549_2550del (p.Phe850fs) |
deletion |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000503963] |
ChrX:41524005..41524006 [GRCh38] ChrX:41383258..41383259 [GRCh37] ChrX:Xp11.4 |
pathogenic |
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_003688.3(CASK):c.68del (p.Phe23fs) |
deletion |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000496613] |
ChrX:41853219 [GRCh38] ChrX:41712472 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.660C>G (p.Tyr220Ter) |
single nucleotide variant |
not provided [RCV000497506] |
ChrX:41665325 [GRCh38] ChrX:41524578 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_003688.3(CASK):c.2589+1G>T |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000502216] |
ChrX:41523950 [GRCh38] ChrX:41383203 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.2237G>A (p.Gly746Asp) |
single nucleotide variant |
not provided [RCV000497647] |
ChrX:41534786 [GRCh38] ChrX:41394039 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.496G>C (p.Ala166Pro) |
single nucleotide variant |
not provided [RCV000497686] |
ChrX:41671464 [GRCh38] ChrX:41530717 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_003688.3(CASK):c.846C>G (p.Tyr282Ter) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000502372]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000763625]|not provided [RCV000656243] |
ChrX:41636647 [GRCh38] ChrX:41495900 [GRCh37] ChrX:Xp11.4 |
pathogenic |
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 |
copy number loss |
See cases [RCV000510419] |
ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23 |
pathogenic |
NM_001367721.1(CASK):c.626T>C (p.Leu209Pro) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000621770]|not provided [RCV000498072] |
ChrX:41665359 [GRCh38] ChrX:41524612 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic |
NM_001367721.1(CASK):c.1860A>G (p.Gln620=) |
single nucleotide variant |
not specified [RCV000500407] |
ChrX:41553898 [GRCh38] ChrX:41413151 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000500609] |
ChrX:41553894 [GRCh38] ChrX:41413147 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.2277C>T (p.Leu759=) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000878294]|not specified [RCV000500773] |
ChrX:41534746 [GRCh38] ChrX:41393999 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
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:168546-57504183)x1 |
copy number loss |
See cases [RCV000511615] |
ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21 |
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 |
NM_001367721.1(CASK):c.1936A>G (p.Ile646Val) |
single nucleotide variant |
not provided [RCV000505919] |
ChrX:41553822 [GRCh38] ChrX:41413075 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
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 Xp21.2-q28(chrX:31088082-155233731)x1 |
copy number loss |
See cases [RCV000511413] |
ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic |
GRCh37/hg19 Xp11.4-11.23(chrX:41150139-46528262)x1 |
copy number loss |
See cases [RCV000511364] |
ChrX:41150139..46528262 [GRCh37] ChrX:Xp11.4-11.23 |
pathogenic |
GRCh37/hg19 Xp11.4(chrX:41708906-41713659)x1 |
copy number loss |
See cases [RCV000511735] |
ChrX:41708906..41713659 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_003688.3(CASK):c.1465C>T (p.Arg489Trp) |
single nucleotide variant |
CASK-Related Disorder [RCV000844926]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000990798]|Smith-Magenis Syndrome-like [RCV000491353] |
ChrX:41578378 [GRCh38] ChrX:41437631 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic|not provided |
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) |
copy number gain |
See cases [RCV000512020] |
ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001367721.1(CASK):c.1A>T (p.Met1Leu) |
single nucleotide variant |
not provided [RCV000579113] |
ChrX:41922988 [GRCh38] ChrX:41782241 [GRCh37] ChrX:Xp11.4 |
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_001367721.1(CASK):c.1005T>C (p.Pro335=) |
single nucleotide variant |
not provided [RCV000928855]|not specified [RCV000603047] |
ChrX:41626614 [GRCh38] ChrX:41485867 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_003688.3(CASK):c.1315-7A>G |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000618602] |
ChrX:41578535 [GRCh38] ChrX:41437788 [GRCh37] ChrX:Xp11.4 |
pathogenic |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_003688.3(CASK):c.2574T>A (p.Thr858=) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000530774] |
ChrX:41523966 [GRCh38] ChrX:41383219 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_003688.3(CASK):c.59+9C>T |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000535378] |
ChrX:41922921 [GRCh38] ChrX:41782174 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_003688.3(CASK):c.191G>A (p.Ser64Asn) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000646770] |
ChrX:41787265 [GRCh38] ChrX:41646518 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2048C>T (p.Ala683Val) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000646771] |
ChrX:41542798 [GRCh38] ChrX:41402051 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.2142A>T (p.Ala714=) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000646776] |
ChrX:41542704 [GRCh38] ChrX:41401957 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_003688.3(CASK):c.303T>C (p.Phe101=) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000646778] |
ChrX:41745577 [GRCh38] ChrX:41604830 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001367721.1(CASK):c.845dup (p.Tyr282Ter) |
duplication |
Inborn genetic diseases [RCV000624088] |
ChrX:41636647..41636648 [GRCh38] ChrX:41495900..41495901 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.1195del (p.Arg399fs) |
deletion |
not provided [RCV000627663] |
ChrX:41589553 [GRCh38] ChrX:41448806 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.2065A>T (p.Lys689Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624320] |
ChrX:41542781 [GRCh38] ChrX:41402034 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.2040-17C>A |
single nucleotide variant |
not specified [RCV000615315] |
ChrX:41542823 [GRCh38] ChrX:41402076 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001367721.1(CASK):c.2737G>A (p.Val913Met) |
single nucleotide variant |
not provided [RCV000523441] |
ChrX:41520464 [GRCh38] ChrX:41379717 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.2302+1G>A |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000618847]|Mental retardation, CASK-related, X-linked [RCV001226408] |
ChrX:41534705 [GRCh38] ChrX:41393958 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.430-18G>A |
single nucleotide variant |
not specified [RCV000616918] |
ChrX:41671548 [GRCh38] ChrX:41530801 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_003688.3(CASK):c.1592A>C (p.His531Pro) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000527725] |
ChrX:41561635 [GRCh38] ChrX:41420888 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001367721.1(CASK):c.1302A>G (p.Gln434=) |
single nucleotide variant |
not specified [RCV000609388] |
ChrX:41586919 [GRCh38] ChrX:41446172 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_003688.3(CASK):c.1408G>A (p.Gly470Ser) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000646772] |
ChrX:41578435 [GRCh38] ChrX:41437688 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1777G>C (p.Gly593Arg) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000646773] |
ChrX:41557061 [GRCh38] ChrX:41416314 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.2155+4G>A |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000646774] |
ChrX:41542687 [GRCh38] ChrX:41401940 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.1669-6C>A |
single nucleotide variant |
not provided [RCV000646775] |
ChrX:41559853 [GRCh38] ChrX:41419106 [GRCh37] ChrX:Xp11.4 |
likely benign|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 |
NC_000023.10:g.(?_39911342)_(41782261_?)dup |
duplication |
Mental retardation, X-linked, syndromic, Hedera type [RCV000640920] |
ChrX:39911342..41782261 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.746C>A (p.Ala249Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV000622638] |
ChrX:41660524 [GRCh38] ChrX:41519777 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2155+1G>C |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000627089] |
ChrX:41542690 [GRCh38] ChrX:41401943 [GRCh37] ChrX:Xp11.4 |
likely 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 |
NM_001367721.1(CASK):c.2757G>A (p.Trp919Ter) |
single nucleotide variant |
not provided [RCV000627199] |
ChrX:41520444 [GRCh38] ChrX:41379697 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.1556T>C (p.Met519Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV000622948] |
ChrX:41569694 [GRCh38] ChrX:41428947 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.2040-1G>A |
single nucleotide variant |
CASK-Related Disorder [RCV000677399] |
ChrX:41542807 [GRCh38] ChrX:41402060 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.21dup (p.Phe8fs) |
duplication |
not provided [RCV000657515] |
ChrX:41922967..41922968 [GRCh38] ChrX:41782220..41782221 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.1015+1G>C |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000715691] |
ChrX:41626603 [GRCh38] ChrX:41485856 [GRCh37] ChrX:Xp11.4 |
pathogenic |
Single allele |
duplication |
not provided [RCV000677963] |
ChrX:41194996..41504859 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.596C>T (p.Pro199Leu) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000686262] |
ChrX:41665389 [GRCh38] ChrX:41524642 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 |
copy number loss |
not provided [RCV000684184] |
ChrX:168546..43248706 [GRCh37] ChrX:Xp22.33-11.3 |
pathogenic |
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 |
copy number loss |
not provided [RCV000684185] |
ChrX:168546..46908284 [GRCh37] ChrX:Xp22.33-11.23 |
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 Xp11.4(chrX:41760334-42078539)x3 |
copy number gain |
not provided [RCV000684322] |
ChrX:41760334..42078539 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1836A>T (p.Gly612=) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000706774] |
ChrX:41555606 [GRCh38] ChrX:41414859 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp11.4(chrX:41772933-41777035)x1 |
copy number loss |
not provided [RCV000709794] |
ChrX:41772933..41777035 [GRCh37] ChrX:Xp11.4 |
not provided |
NM_003688.3(CASK):c.305A>G (p.Glu102Gly) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000697924] |
ChrX:41745575 [GRCh38] ChrX:41604828 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_003688.3(CASK):c.1436A>G (p.Asp479Gly) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000691244] |
ChrX:41578407 [GRCh38] ChrX:41437660 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1641_1644del (p.Thr548fs) |
deletion |
Mental retardation, CASK-related, X-linked [RCV000691765]|not provided [RCV001268340] |
ChrX:41561583..41561586 [GRCh38] ChrX:41420836..41420839 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_003688.3(CASK):c.2212G>C (p.Val738Leu) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000703475] |
ChrX:41534902 [GRCh38] ChrX:41394155 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001004916]|Mental retardation, CASK-related, X-linked [RCV000703484] |
ChrX:41553848 [GRCh38] ChrX:41413101 [GRCh37] ChrX:Xp11.4 |
likely pathogenic|uncertain significance |
NC_000023.11:g.41506506_41542250del |
deletion |
Congenital cerebellar hypoplasia [RCV001003867] |
ChrX:41365759..41401503 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001367721.1(CASK):c.761G>A (p.Arg254His) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001308141]|not specified [RCV000714883] |
ChrX:41660509 [GRCh38] ChrX:41519762 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2014A>G (p.Ile672Val) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000717560] |
ChrX:41553744 [GRCh38] ChrX:41412997 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.937T>A (p.Ser313Thr) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720151] |
ChrX:41626682 [GRCh38] ChrX:41485935 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.546A>T (p.Thr182=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720613] |
ChrX:41665439 [GRCh38] ChrX:41524692 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001367721.1(CASK):c.2670C>T (p.Phe890=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720863]|not provided [RCV000936849] |
ChrX:41520531 [GRCh38] ChrX:41379784 [GRCh37] ChrX:Xp11.4 |
likely benign |
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 |
copy number loss |
not provided [RCV000753273] |
ChrX:60814..48317386 [GRCh37] ChrX:Xp22.33-11.23 |
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 |
NM_001367721.1(CASK):c.582G>A (p.Glu194=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000719529] |
ChrX:41665403 [GRCh38] ChrX:41524656 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001367721.1(CASK):c.195C>T (p.Ile65=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000719819] |
ChrX:41787261 [GRCh38] ChrX:41646514 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720774]|Mental retardation, CASK-related, X-linked [RCV001246095] |
ChrX:41531057 [GRCh38] ChrX:41390310 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2172T>C (p.Asp724=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720624]|not provided [RCV000939411] |
ChrX:41534957 [GRCh38] ChrX:41394210 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001367721.1(CASK):c.2561T>C (p.Val854Ala) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000758008] |
ChrX:41523994 [GRCh38] ChrX:41383247 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
Single allele |
deletion |
Global developmental delay [RCV001003868] |
ChrX:41458916..41537987 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
GRCh37/hg19 Xp11.4(chrX:41374397-41908956)x3 |
copy number gain |
not provided [RCV000753519] |
ChrX:41374397..41908956 [GRCh37] ChrX:Xp11.4 |
benign |
GRCh37/hg19 Xp11.4(chrX:41533814-41653441)x1 |
copy number loss |
not provided [RCV000753520] |
ChrX:41533814..41653441 [GRCh37] ChrX:Xp11.4 |
pathogenic |
GRCh37/hg19 Xp11.4(chrX:41690431-42036102)x2 |
copy number gain |
not provided [RCV000753521] |
ChrX:41690431..42036102 [GRCh37] ChrX:Xp11.4 |
likely 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 |
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 |
Single allele |
duplication |
Autistic disorder of childhood onset [RCV000754365] |
ChrX:1..156040895 [GRCh38] 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_001367721.1(CASK):c.1160A>G (p.Tyr387Cys) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001052536] |
ChrX:41589588 [GRCh38] ChrX:41448841 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.578G>T (p.Arg193Ile) |
single nucleotide variant |
not provided [RCV000762626] |
ChrX:41665407 [GRCh38] ChrX:41524660 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.2414G>A (p.Ser805Asn) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000990796] |
ChrX:41531098 [GRCh38] ChrX:41390351 [GRCh37] ChrX:Xp11.4 |
likely pathogenic|uncertain significance |
NM_003688.3(CASK):c.771G>A (p.Leu257=) |
single nucleotide variant |
not provided [RCV000942018] |
ChrX:41660499 [GRCh38] ChrX:41519752 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_003688.3(CASK):c.1669-7C>A |
single nucleotide variant |
not provided [RCV000945292] |
ChrX:41559854 [GRCh38] ChrX:41419107 [GRCh37] ChrX:Xp11.4 |
benign |
NM_003688.3(CASK):c.2506-10_2506-8del |
deletion |
not provided [RCV000926338] |
ChrX:41524042..41524044 [GRCh38] ChrX:41383295..41383297 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_003688.3(CASK):c.916-6dup |
duplication |
not provided [RCV000976111] |
ChrX:41626705..41626706 [GRCh38] ChrX:41485958..41485959 [GRCh37] ChrX:Xp11.4 |
benign |
NM_003688.3(CASK):c.390C>T (p.Arg130=) |
single nucleotide variant |
not provided [RCV000943647] |
ChrX:41739423 [GRCh38] ChrX:41598676 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_003688.3(CASK):c.408C>T (p.Asn136=) |
single nucleotide variant |
not provided [RCV000982913] |
ChrX:41739405 [GRCh38] ChrX:41598658 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_003688.3(CASK):c.2043A>T (p.Arg681=) |
single nucleotide variant |
not provided [RCV000875968] |
ChrX:41542803 [GRCh38] ChrX:41402056 [GRCh37] ChrX:Xp11.4 |
likely benign |
NC_000023.11:g.(?_41520400)_(41665472_?)dup |
duplication |
Mental retardation, CASK-related, X-linked [RCV001033275] |
ChrX:41379653..41524725 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.493G>A (p.Val165Ile) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001050347] |
ChrX:41671467 [GRCh38] ChrX:41530720 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp11.4(chrX:41646431-41646536)x1 |
copy number loss |
not provided [RCV000996089] |
ChrX:41646431..41646536 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2156-1G>A |
single nucleotide variant |
Congenital cerebellar hypoplasia [RCV001257955]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000779656] |
ChrX:41534974 [GRCh38] ChrX:41394227 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787440] |
ChrX:1..47140860 [GRCh37] ChrX:Xp22.33-11.23 |
pathogenic |
NM_003688.3(CASK):c.2016T>C (p.Ile672=) |
single nucleotide variant |
not provided [RCV000939126] |
ChrX:41553742 [GRCh38] ChrX:41412995 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_003688.3(CASK):c.273C>T (p.Phe91=) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000917401] |
ChrX:41787183 [GRCh38] ChrX:41646436 [GRCh37] ChrX:Xp11.4 |
benign |
NM_003688.3(CASK):c.132T>C (p.Asp44=) |
single nucleotide variant |
not provided [RCV000940221] |
ChrX:41853155 [GRCh38] ChrX:41712408 [GRCh37] ChrX:Xp11.4 |
likely 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_003688.3(CASK):c.432C>T (p.Pro144=) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000950925] |
ChrX:41671528 [GRCh38] ChrX:41530781 [GRCh37] ChrX:Xp11.4 |
benign |
NM_003688.3(CASK):c.2394C>T (p.Asn798=) |
single nucleotide variant |
not provided [RCV000941220] |
ChrX:41531118 [GRCh38] ChrX:41390371 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001097579.2(GPR34):c.888A>G (p.Val296=) |
single nucleotide variant |
not provided [RCV000886043] |
ChrX:41696521 [GRCh38] ChrX:41555774 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001367721.1(CASK):c.533-2A>G |
single nucleotide variant |
Congenital cerebellar hypoplasia [RCV001257981]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000779657] |
ChrX:41665454 [GRCh38] ChrX:41524707 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic |
NM_001367721.1(CASK):c.2120dup (p.Tyr708fs) |
duplication |
Congenital cerebellar hypoplasia [RCV001257980]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000779658] |
ChrX:41542725..41542726 [GRCh38] ChrX:41401978..41401979 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic |
NM_001367721.1(CASK):c.1233+273C>A |
single nucleotide variant |
not provided [RCV000827817] |
ChrX:41589242 [GRCh38] ChrX:41448495 [GRCh37] ChrX:Xp11.4 |
benign |
NM_003688.3(CASK):c.2719C>T (p.Leu907Phe) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000815819] |
ChrX:41520467 [GRCh38] ChrX:41379720 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2039+243A>G |
single nucleotide variant |
not provided [RCV000839822] |
ChrX:41553476 [GRCh38] ChrX:41412729 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001367721.1(CASK):c.2318-251A>C |
single nucleotide variant |
not provided [RCV000826835] |
ChrX:41531460 [GRCh38] ChrX:41390713 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001367721.1(CASK):c.2604+7A>C |
single nucleotide variant |
not provided [RCV000827358] |
ChrX:41523944 [GRCh38] ChrX:41383197 [GRCh37] ChrX:Xp11.4 |
likely benign |
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_001367721.1(CASK):c.1368A>G (p.Ala456=) |
single nucleotide variant |
not provided [RCV000841250] |
ChrX:41578475 [GRCh38] ChrX:41437728 [GRCh37] ChrX:Xp11.4 |
likely 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_001367721.1(CASK):c.532+114C>A |
single nucleotide variant |
not provided [RCV000836417] |
ChrX:41671314 [GRCh38] ChrX:41530567 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001367721.1(CASK):c.533-99_533-84del |
deletion |
not provided [RCV000829595] |
ChrX:41665536..41665551 [GRCh38] ChrX:41524789..41524804 [GRCh37] ChrX:Xp11.4 |
benign |
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1 |
copy number loss |
not provided [RCV001007291] |
ChrX:32849282..43713387 [GRCh37] ChrX:Xp21.1-11.3 |
pathogenic |
NM_003688.3(CASK):c.2665A>G (p.Ile889Val) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000820175] |
ChrX:41520521 [GRCh38] ChrX:41379774 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.824G>A (p.Trp275Ter) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000791046] |
ChrX:41660446 [GRCh38] ChrX:41519699 [GRCh37] ChrX:Xp11.4 |
pathogenic |
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 |
NM_001367721.1(CASK):c.279-107C>A |
single nucleotide variant |
not provided [RCV000841224] |
ChrX:41745708 [GRCh38] ChrX:41604961 [GRCh37] ChrX:Xp11.4 |
benign |
NM_003688.3(CASK):c.534A>G (p.Gly178=) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV000981365] |
ChrX:41665451 [GRCh38] ChrX:41524704 [GRCh37] ChrX:Xp11.4 |
likely benign |
NC_000023.11:g.(?_41853095)_(41853247_?)del |
deletion |
Mental retardation, CASK-related, X-linked [RCV000809318] |
ChrX:41853095..41853247 [GRCh38] ChrX:41712348..41712500 [GRCh37] ChrX:Xp11.4 |
pathogenic |
GRCh37/hg19 Xp11.4(chrX:41439326-41538706)x3 |
copy number gain |
not provided [RCV000846510] |
ChrX:41439326..41538706 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.1997dup (p.Asn666fs) |
duplication |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001028096] |
ChrX:41553760..41553761 [GRCh38] ChrX:41413013..41413014 [GRCh37] ChrX:Xp11.4 |
pathogenic |
GRCh37/hg19 Xp11.4(chrX:41708911-41713656)x1 |
copy number loss |
not provided [RCV000846177] |
ChrX:41708911..41713656 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_003688.3(CASK):c.1385_1394del (p.Pro462fs) |
deletion |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000990799] |
ChrX:41578449..41578458 [GRCh38] ChrX:41437702..41437711 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_003688.3(CASK):c.774_780del (p.Met258fs) |
deletion |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000990802] |
ChrX:41660490..41660496 [GRCh38] ChrX:41519743..41519749 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.913_914dup (p.Gly306fs) |
duplication |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000850537] |
ChrX:41636578..41636579 [GRCh38] ChrX:41495831..41495832 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln) |
single nucleotide variant |
FG syndrome 4 [RCV001253354]|not provided [RCV000999405] |
ChrX:41578377 [GRCh38] ChrX:41437630 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001367721.1(CASK):c.985C>A (p.Pro329Thr) |
single nucleotide variant |
not provided [RCV000999406] |
ChrX:41626634 [GRCh38] ChrX:41485887 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1843-2A>T |
single nucleotide variant |
not provided [RCV001172205] |
ChrX:41553917 [GRCh38] ChrX:41413170 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.661G>A (p.Gly221Arg) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001240246] |
ChrX:41665324 [GRCh38] ChrX:41524577 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.1578del (p.Arg526fs) |
deletion |
Mental retardation, CASK-related, X-linked [RCV001225069] |
ChrX:41569672 [GRCh38] ChrX:41428925 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_003688.3(CASK):c.2395G>A (p.Glu799Lys) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001243235] |
ChrX:41531117 [GRCh38] ChrX:41390370 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.1076C>T (p.Ala359Val) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001225873] |
ChrX:41609983 [GRCh38] ChrX:41469236 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
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 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV000848828] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
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_001367721.1(CASK):c.543_548delinsTCCTACATAAATGACGTAGGTG (p.Thr182_Pro183delinsProThrTer) |
indel |
not provided [RCV001008315] |
ChrX:41665437..41665442 [GRCh38] ChrX:41524690..41524695 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.1508del (p.Ile503fs) |
deletion |
not provided [RCV001093499] |
ChrX:41569742 [GRCh38] ChrX:41428995 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_003688.3(CASK):c.1686T>C (p.Ser562=) |
single nucleotide variant |
not provided [RCV000940943] |
ChrX:41559830 [GRCh38] ChrX:41419083 [GRCh37] ChrX:Xp11.4 |
benign |
NM_003688.3(CASK):c.612G>T (p.Gly204=) |
single nucleotide variant |
not provided [RCV000931318] |
ChrX:41665373 [GRCh38] ChrX:41524626 [GRCh37] ChrX:Xp11.4 |
benign |
NM_003688.3(CASK):c.2574T>G (p.Thr858=) |
single nucleotide variant |
not provided [RCV000932989] |
ChrX:41523966 [GRCh38] ChrX:41383219 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001367721.1(CASK):c.2214G>T (p.Lys738Asn) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001220873] |
ChrX:41534915 [GRCh38] ChrX:41394168 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.831+4C>A |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001206374] |
ChrX:41660435 [GRCh38] ChrX:41519688 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1432G>A (p.Gly478Arg) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001217682] |
ChrX:41578411 [GRCh38] ChrX:41437664 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.372G>A (p.Gln124=) |
single nucleotide variant |
not provided [RCV000934493] |
ChrX:41739441 [GRCh38] ChrX:41598694 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_003688.3(CASK):c.1392C>T (p.Thr464=) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001087389]|not provided [RCV000891134] |
ChrX:41578451 [GRCh38] ChrX:41437704 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_003688.3(CASK):c.175C>T (p.Leu59=) |
single nucleotide variant |
not provided [RCV000935699] |
ChrX:41787281 [GRCh38] ChrX:41646534 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001367721.1(CASK):c.36C>A (p.Tyr12Ter) |
single nucleotide variant |
not provided [RCV000999407] |
ChrX:41922953 [GRCh38] ChrX:41782206 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_003688.3(CASK):c.787G>A (p.Glu263Lys) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000990801] |
ChrX:41660483 [GRCh38] ChrX:41519736 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001367721.1(CASK):c.281_284TGGA[1] (p.Asp95fs) |
microsatellite |
not provided [RCV001008953] |
ChrX:41745592..41745595 [GRCh38] ChrX:41604845..41604848 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.2471G>A (p.Arg824Gln) |
single nucleotide variant |
not provided [RCV001093498] |
ChrX:41531056 [GRCh38] ChrX:41390309 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.1333G>A (p.Asp445Asn) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001067729] |
ChrX:41578510 [GRCh38] ChrX:41437763 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001004925] |
ChrX:41553788 [GRCh38] ChrX:41413041 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.1714C>T (p.Arg572Cys) |
single nucleotide variant |
FG syndrome 4 [RCV001332310]|Mental retardation, CASK-related, X-linked [RCV001219399] |
ChrX:41559802 [GRCh38] ChrX:41419055 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2243A>G (p.His748Arg) |
single nucleotide variant |
FG syndrome 4 [RCV001196936] |
ChrX:41534780 [GRCh38] ChrX:41394033 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.721C>T (p.Gln241Ter) |
single nucleotide variant |
not provided [RCV001091006] |
ChrX:41660549 [GRCh38] ChrX:41519802 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_003688.3(CASK):c.359A>G (p.His120Arg) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001004663] |
ChrX:41739454 [GRCh38] ChrX:41598707 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001367721.1(CASK):c.709-3C>T |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001332312]|Mental retardation, CASK-related, X-linked [RCV001034517] |
ChrX:41660564 [GRCh38] ChrX:41519817 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001367721.1(CASK):c.898G>A (p.Ala300Thr) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001206618] |
ChrX:41636595 [GRCh38] ChrX:41495848 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.2589+5G>A |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001202244] |
ChrX:41523946 [GRCh38] ChrX:41383199 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2777A>G (p.Tyr926Cys) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001232567] |
ChrX:41520424 [GRCh38] ChrX:41379677 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.916-1G>A |
single nucleotide variant |
FG syndrome 4 [RCV001195937] |
ChrX:41626704 [GRCh38] ChrX:41485957 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.62G>A (p.Gly21Asp) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001232847] |
ChrX:41853225 [GRCh38] ChrX:41712478 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1090A>G (p.Ser364Gly) |
single nucleotide variant |
not provided [RCV001093500] |
ChrX:41609969 [GRCh38] ChrX:41469222 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NC_000023.11:g.(?_41520400)_(41923008_?)del |
deletion |
Mental retardation, CASK-related, X-linked [RCV001032938] |
ChrX:41379653..41782261 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.2434G>A (p.Glu812Lys) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001214757] |
ChrX:41531093 [GRCh38] ChrX:41390346 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.2641T>C (p.Tyr881His) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001034504] |
ChrX:41520545 [GRCh38] ChrX:41379798 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_003688.3(CASK):c.1256del (p.Tyr419fs) |
deletion |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001255831] |
ChrX:41586965 [GRCh38] ChrX:41446218 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001367721.1(CASK):c.1025C>T (p.Ala342Val) |
single nucleotide variant |
Intellectual disability [RCV001252177] |
ChrX:41622625 [GRCh38] ChrX:41481878 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2621G>A (p.Arg874His) |
single nucleotide variant |
FG syndrome 4 [RCV001253441] |
ChrX:41520580 [GRCh38] ChrX:41379833 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp11.4-11.3(chrX:41150139-43976458) |
copy number loss |
Microcephaly [RCV001252950] |
ChrX:41150139..43976458 [GRCh37] ChrX:Xp11.4-11.3 |
pathogenic |
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser) |
single nucleotide variant |
Intellectual disability [RCV001260654]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001253349] |
ChrX:41665369 [GRCh38] ChrX:41524622 [GRCh37] ChrX:Xp11.4 |
likely pathogenic|uncertain significance |
GRCh37/hg19 Xp11.4(chrX:41335354-41519376)x3 |
copy number gain |
not provided [RCV001258957] |
ChrX:41335354..41519376 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.2593del (p.Glu865fs) |
deletion |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001255833] |
ChrX:41520593 [GRCh38] ChrX:41379846 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001367721.1(CASK):c.290C>A (p.Ala97Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV001267216] |
ChrX:41745590 [GRCh38] ChrX:41604843 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.56G>A (p.Gly19Glu) |
single nucleotide variant |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001332311] |
ChrX:41922933 [GRCh38] ChrX:41782186 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.875_877del (p.Val292del) |
deletion |
Intellectual disability [RCV001260655] |
ChrX:41636616..41636618 [GRCh38] ChrX:41495869..41495871 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001367721.1(CASK):c.37G>T (p.Glu13Ter) |
single nucleotide variant |
not provided [RCV001268856] |
ChrX:41922952 [GRCh38] ChrX:41782205 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.1898G>A (p.Cys633Tyr) |
single nucleotide variant |
not provided [RCV001268859] |
ChrX:41553860 [GRCh38] ChrX:41413113 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001367721.1(CASK):c.1579C>T (p.Gln527Ter) |
single nucleotide variant |
CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia [RCV001270856] |
ChrX:41569671 [GRCh38] ChrX:41428924 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001367721.1(CASK):c.490G>C (p.Gly164Arg) |
single nucleotide variant |
Intellectual disability [RCV001260653] |
ChrX:41671470 [GRCh38] ChrX:41530723 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001367721.1(CASK):c.2381A>T (p.Asp794Val) |
single nucleotide variant |
Intellectual disability [RCV001260656] |
ChrX:41531146 [GRCh38] ChrX:41390399 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1501A>G (p.Met501Val) |
single nucleotide variant |
Intellectual disability [RCV001260871] |
ChrX:41578342 [GRCh38] ChrX:41437595 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
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 |
NM_003688.3(CASK):c.1210G>A (p.Asp404Asn) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001257208] |
ChrX:41589538 [GRCh38] ChrX:41448791 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_003688.3(CASK):c.2039+1del |
deletion |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001255728] |
ChrX:41553718 [GRCh38] ChrX:41412971 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001367721.1(CASK):c.434A>G (p.His145Arg) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001297652] |
ChrX:41671526 [GRCh38] ChrX:41530779 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1669-7C>G |
single nucleotide variant |
not provided [RCV001288908] |
ChrX:41559854 [GRCh38] ChrX:41419107 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp11.4-11.3(chrX:39645568-44199000) |
copy number loss |
Cardiomyopathy [RCV001352652] |
ChrX:39645568..44199000 [GRCh37] ChrX:Xp11.4-11.3 |
pathogenic |
NC_000023.10:g.(?_41379673)_(41420907_?)dup |
duplication |
Mental retardation, CASK-related, X-linked [RCV001351559] |
ChrX:41379673..41420907 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1453G>C (p.Val485Leu) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001316909] |
ChrX:41578390 [GRCh38] ChrX:41437643 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2343C>G (p.Asp781Glu) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001312650] |
ChrX:41531184 [GRCh38] ChrX:41390437 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp11.4(chrX:41553564-41696352) |
copy number loss |
Microcephaly [RCV001352653] |
ChrX:41553564..41696352 [GRCh37] ChrX:Xp11.4 |
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 |
NM_001367721.1(CASK):c.356+1848A>G |
single nucleotide variant |
not provided [RCV001310711] |
ChrX:41743676 [GRCh38] ChrX:41602929 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001367721.1(CASK):c.1493A>G (p.Asp498Gly) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001304210] |
ChrX:41578350 [GRCh38] ChrX:41437603 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1727C>T (p.Ser576Leu) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001323132] |
ChrX:41559789 [GRCh38] ChrX:41419042 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2540C>T (p.Thr847Ile) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001345179] |
ChrX:41524015 [GRCh38] ChrX:41383268 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1540A>G (p.Ile514Val) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001315116] |
ChrX:41569710 [GRCh38] ChrX:41428963 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.1565G>T (p.Gly522Val) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001298897] |
ChrX:41569685 [GRCh38] ChrX:41428938 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001367721.1(CASK):c.2358G>T (p.Lys786Asn) |
single nucleotide variant |
Mental retardation, CASK-related, X-linked [RCV001317025] |
ChrX:41531169 [GRCh38] ChrX:41390422 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp11.4-11.3(chrX:41342834-43901936) |
copy number loss |
Global developmental delay [RCV001352647] |
ChrX:41342834..43901936 [GRCh37] ChrX:Xp11.4-11.3 |
pathogenic |