GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 |
copy number gain |
See cases [RCV000050981] |
Chr1:214023812..248918469 [GRCh38] Chr1:214197155..249212668 [GRCh37] Chr1:212263778..247179291 [NCBI36] Chr1:1q32.3-44 |
pathogenic |
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 |
copy number gain |
See cases [RCV000050581] |
Chr1:223347693..248918469 [GRCh38] Chr1:223521035..249212668 [GRCh37] Chr1:221587658..247179291 [NCBI36] Chr1:1q41-44 |
pathogenic |
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] |
Chr1:221902539..248918469 [GRCh38] Chr1:222075881..249212668 [GRCh37] Chr1:220142504..247179291 [NCBI36] Chr1:1q41-44 |
pathogenic |
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 |
copy number gain |
See cases [RCV000051878] |
Chr1:223828500..248891309 [GRCh38] Chr1:224016202..249185508 [GRCh37] Chr1:222082825..247152131 [NCBI36] Chr1:1q41-44 |
pathogenic |
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 |
copy number gain |
See cases [RCV000051880] |
Chr1:223887780..248891309 [GRCh38] Chr1:224075482..249185508 [GRCh37] Chr1:222142105..247152131 [NCBI36] Chr1:1q41-44 |
pathogenic |
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 |
copy number gain |
See cases [RCV000051882] |
Chr1:224096488..248918469 [GRCh38] Chr1:224284190..249212668 [GRCh37] Chr1:222350813..247179291 [NCBI36] Chr1:1q42.11-44 |
pathogenic |
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 |
copy number gain |
See cases [RCV000051861] |
Chr1:209646207..248931113 [GRCh38] Chr1:209819552..249225312 [GRCh37] Chr1:207886175..247191935 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh38/hg38 1q42.11-42.13(chr1:224096288-227859548)x1 |
copy number loss |
See cases [RCV000052311] |
Chr1:224096288..227859548 [GRCh38] Chr1:224283990..228047249 [GRCh37] Chr1:222350613..226113872 [NCBI36] Chr1:1q42.11-42.13 |
pathogenic |
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] |
Chr1:221519280..228862141 [GRCh38] Chr1:221692622..228997888 [GRCh37] Chr1:219759245..227064511 [NCBI36] Chr1:1q41-42.13 |
pathogenic |
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 |
copy number gain |
See cases [RCV000134979] |
Chr1:209963625..248918469 [GRCh38] Chr1:210136970..249212668 [GRCh37] Chr1:208203593..247179291 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 |
copy number gain |
See cases [RCV000135839] |
Chr1:223815147..248918469 [GRCh38] Chr1:224002849..249212668 [GRCh37] Chr1:222069472..247179291 [NCBI36] Chr1:1q41-44 |
pathogenic |
GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1 |
copy number loss |
See cases [RCV000135796] |
Chr1:226185124..232872488 [GRCh38] Chr1:226372825..233008234 [GRCh37] Chr1:224439448..231074857 [NCBI36] Chr1:1q42.12-42.2 |
pathogenic |
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1 |
copy number loss |
See cases [RCV000136636] |
Chr1:223347693..228556332 [GRCh38] Chr1:223521035..228744033 [GRCh37] Chr1:221587658..226810656 [NCBI36] Chr1:1q41-42.13 |
pathogenic |
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 |
copy number gain |
See cases [RCV000137769] |
Chr1:224022862..248918469 [GRCh38] Chr1:224210564..249212668 [GRCh37] Chr1:222277187..247179291 [NCBI36] Chr1:1q42.11-44 |
pathogenic |
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 |
copy number gain |
See cases [RCV000142448] |
Chr1:225438480..248787200 [GRCh38] Chr1:225626182..249060210 [GRCh37] Chr1:223692805..247048022 [NCBI36] Chr1:1q42.12-44 |
pathogenic |
GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1 |
copy number loss |
See cases [RCV000143223] |
Chr1:225382172..230418801 [GRCh38] Chr1:225569874..230554547 [GRCh37] Chr1:223636497..228621170 [NCBI36] Chr1:1q42.12-42.13 |
pathogenic |
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 |
copy number gain |
See cases [RCV000143727] |
Chr1:207346642..248930485 [GRCh38] Chr1:207519987..249224684 [GRCh37] Chr1:205586610..247191307 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 |
copy number gain |
See cases [RCV000240137] |
Chr1:197811907..228997888 [GRCh37] Chr1:1q31.3-42.13 |
pathogenic |
GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1 |
copy number loss |
See cases [RCV000240001] |
Chr1:226871745..229906954 [GRCh37] Chr1:1q42.12-42.13 |
uncertain significance |
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 |
copy number gain |
See cases [RCV000449172] |
Chr1:195483439..249213000 [GRCh37] Chr1:1q31.3-44 |
pathogenic |
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 |
copy number gain |
See cases [RCV000449210] |
Chr1:214697099..249224684 [GRCh37] Chr1:1q41-44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 |
copy number gain |
See cases [RCV000510981] |
Chr1:224105294..249224684 [GRCh37] Chr1:1q42.11-44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_002221.4(ITPKB):c.310G>A (p.Gly104Ser) |
single nucleotide variant |
not specified [RCV004306551] |
Chr1:226737149 [GRCh38] Chr1:226924850 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.130C>T (p.Pro44Ser) |
single nucleotide variant |
not specified [RCV004288910] |
Chr1:226737329 [GRCh38] Chr1:226925030 [GRCh37] Chr1:1q42.12 |
uncertain significance |
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 |
copy number gain |
not provided [RCV000684700] |
Chr1:218252551..249224684 [GRCh37] Chr1:1q41-44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q42.12(chr1:226810146-226836190)x3 |
copy number gain |
not provided [RCV000736886] |
Chr1:226810146..226836190 [GRCh37] Chr1:1q42.12 |
benign |
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 |
copy number loss |
not provided [RCV001005180] |
Chr1:223653722..234591807 [GRCh37] Chr1:1q41-42.2 |
pathogenic |
NM_002221.4(ITPKB):c.2640C>G (p.Ser880=) |
single nucleotide variant |
not provided [RCV000964850] |
Chr1:226634872 [GRCh38] Chr1:226822573 [GRCh37] Chr1:1q42.12 |
benign |
NM_002221.4(ITPKB):c.959A>C (p.Asp320Ala) |
single nucleotide variant |
not provided [RCV000884163] |
Chr1:226736500 [GRCh38] Chr1:226924201 [GRCh37] Chr1:1q42.12 |
benign |
GRCh37/hg19 1q42.12-42.13(chr1:226853676-227246753)x1 |
copy number loss |
not provided [RCV000845932] |
Chr1:226853676..227246753 [GRCh37] Chr1:1q42.12-42.13 |
uncertain significance |
GRCh37/hg19 1q42.12(chr1:226064744-226924455)x3 |
copy number gain |
not provided [RCV001005183] |
Chr1:226064744..226924455 [GRCh37] Chr1:1q42.12 |
uncertain significance |
GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1 |
copy number loss |
not provided [RCV001005178] |
Chr1:222641389..228137574 [GRCh37] Chr1:1q41-42.13 |
pathogenic |
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 |
copy number gain |
not provided [RCV001005175] |
Chr1:219916966..239004378 [GRCh37] Chr1:1q41-43 |
pathogenic |
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 |
copy number gain |
not provided [RCV000845852] |
Chr1:182388773..249111240 [GRCh37] Chr1:1q25.3-44 |
pathogenic |
NM_002221.4(ITPKB):c.1655C>A (p.Pro552Gln) |
single nucleotide variant |
Myeloproliferative neoplasm, unclassifiable [RCV002284271]|not specified [RCV003491071] |
Chr1:226735804 [GRCh38] Chr1:226923505 [GRCh37] Chr1:1q42.12 |
likely pathogenic|benign |
NM_002221.4(ITPKB):c.1776C>T (p.Asn592=) |
single nucleotide variant |
not provided [RCV000957792] |
Chr1:226735683 [GRCh38] Chr1:226923384 [GRCh37] Chr1:1q42.12 |
benign |
NM_002221.4(ITPKB):c.591C>A (p.Ser197Arg) |
single nucleotide variant |
not provided [RCV000957793] |
Chr1:226736868 [GRCh38] Chr1:226924569 [GRCh37] Chr1:1q42.12 |
benign |
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 |
copy number gain |
See cases [RCV001194578] |
Chr1:210152794..249218992 [GRCh37] Chr1:1q32.2-44 |
pathogenic |
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 |
copy number gain |
See cases [RCV001007407] |
Chr1:204045948..249218992 [GRCh37] Chr1:1q32.1-44 |
pathogenic |
NM_002221.4(ITPKB):c.220G>A (p.Gly74Ser) |
single nucleotide variant |
Myeloproliferative neoplasm, unclassifiable [RCV002284266]|not specified [RCV003491070] |
Chr1:226737239 [GRCh38] Chr1:226924940 [GRCh37] Chr1:1q42.12 |
benign|likely benign |
NM_002221.4(ITPKB):c.1222T>G (p.Ser408Ala) |
single nucleotide variant |
Myeloproliferative neoplasm, unclassifiable [RCV002284273]|not specified [RCV003491073] |
Chr1:226736237 [GRCh38] Chr1:226923938 [GRCh37] Chr1:1q42.12 |
likely pathogenic|benign |
NM_002221.4(ITPKB):c.964G>A (p.Ala322Thr) |
single nucleotide variant |
Myeloproliferative neoplasm, unclassifiable [RCV002284263]|not specified [RCV003491069] |
Chr1:226736495 [GRCh38] Chr1:226924196 [GRCh37] Chr1:1q42.12 |
pathogenic|benign |
NM_002221.4(ITPKB):c.518G>A (p.Arg173His) |
single nucleotide variant |
Myeloproliferative neoplasm, unclassifiable [RCV002284272]|not specified [RCV003491072] |
Chr1:226736941 [GRCh38] Chr1:226924642 [GRCh37] Chr1:1q42.12 |
benign|uncertain significance |
NM_002221.4(ITPKB):c.267CAGCGGCAG[1] (p.91GSS[1]) |
microsatellite |
Myeloproliferative neoplasm, unclassifiable [RCV002284270] |
Chr1:226737175..226737183 [GRCh38] Chr1:226924876..226924884 [GRCh37] Chr1:1q42.12 |
likely pathogenic |
NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
NM_002221.4(ITPKB):c.1133C>T (p.Pro378Leu) |
single nucleotide variant |
not specified [RCV004325333] |
Chr1:226736326 [GRCh38] Chr1:226924027 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1273G>A (p.Glu425Lys) |
single nucleotide variant |
not specified [RCV004325334] |
Chr1:226736186 [GRCh38] Chr1:226923887 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NC_000001.10:g.(?_225591005)_(227174438_?)dup |
duplication |
not provided [RCV001928108] |
Chr1:225591005..227174438 [GRCh37] Chr1:1q42.12-42.13 |
uncertain significance |
GRCh37/hg19 1q41-42.13(chr1:221303919-227461343) |
copy number gain |
not specified [RCV002052845] |
Chr1:221303919..227461343 [GRCh37] Chr1:1q41-42.13 |
pathogenic |
GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227) |
copy number loss |
not specified [RCV002052878] |
Chr1:226131690..231908227 [GRCh37] Chr1:1q42.12-42.2 |
likely pathogenic |
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 |
copy number gain |
See cases [RCV002287837] |
Chr1:197867914..249224684 [GRCh37] Chr1:1q31.3-44 |
pathogenic |
NM_002221.4(ITPKB):c.1906A>G (p.Thr636Ala) |
single nucleotide variant |
not specified [RCV004324178] |
Chr1:226735553 [GRCh38] Chr1:226923254 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.758C>T (p.Ala253Val) |
single nucleotide variant |
not specified [RCV004144517] |
Chr1:226736701 [GRCh38] Chr1:226924402 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1280G>C (p.Arg427Pro) |
single nucleotide variant |
not specified [RCV004138197] |
Chr1:226736179 [GRCh38] Chr1:226923880 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1634C>T (p.Pro545Leu) |
single nucleotide variant |
not specified [RCV004240137] |
Chr1:226735825 [GRCh38] Chr1:226923526 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.796C>T (p.Arg266Cys) |
single nucleotide variant |
not specified [RCV004219889] |
Chr1:226736663 [GRCh38] Chr1:226924364 [GRCh37] Chr1:1q42.12 |
likely benign |
NM_002221.4(ITPKB):c.1171A>G (p.Lys391Glu) |
single nucleotide variant |
not specified [RCV004233693] |
Chr1:226736288 [GRCh38] Chr1:226923989 [GRCh37] Chr1:1q42.12 |
likely benign |
NM_002221.4(ITPKB):c.428T>G (p.Val143Gly) |
single nucleotide variant |
not specified [RCV004126545] |
Chr1:226737031 [GRCh38] Chr1:226924732 [GRCh37] Chr1:1q42.12 |
uncertain significance |
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 |
copy number gain |
not provided [RCV002475745] |
Chr1:223972939..249224684 [GRCh37] Chr1:1q41-44 |
pathogenic |
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 |
copy number loss |
Orofacial cleft 2 [RCV002481175] |
Chr1:228006998..228061271 [GRCh38] Chr1:1q32.2-42.13 |
association |
NM_002221.4(ITPKB):c.566G>A (p.Arg189Lys) |
single nucleotide variant |
not specified [RCV004194637] |
Chr1:226736893 [GRCh38] Chr1:226924594 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.2126G>A (p.Arg709Lys) |
single nucleotide variant |
not specified [RCV004190152] |
Chr1:226647287 [GRCh38] Chr1:226834988 [GRCh37] Chr1:1q42.12 |
likely benign |
NM_002221.4(ITPKB):c.2740G>A (p.Val914Ile) |
single nucleotide variant |
not specified [RCV004134829] |
Chr1:226634772 [GRCh38] Chr1:226822473 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1615A>T (p.Ser539Cys) |
single nucleotide variant |
not specified [RCV004229643] |
Chr1:226735844 [GRCh38] Chr1:226923545 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.2716G>C (p.Glu906Gln) |
single nucleotide variant |
not provided [RCV004691527]|not specified [RCV004171682] |
Chr1:226634796 [GRCh38] Chr1:226822497 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.2323G>A (p.Glu775Lys) |
single nucleotide variant |
not specified [RCV004226739] |
Chr1:226642049 [GRCh38] Chr1:226829750 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1027G>A (p.Val343Met) |
single nucleotide variant |
not specified [RCV004134291] |
Chr1:226736432 [GRCh38] Chr1:226924133 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.2029G>A (p.Ala677Thr) |
single nucleotide variant |
not specified [RCV004113795] |
Chr1:226648675 [GRCh38] Chr1:226836376 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1373C>T (p.Ser458Leu) |
single nucleotide variant |
not specified [RCV004135389] |
Chr1:226736086 [GRCh38] Chr1:226923787 [GRCh37] Chr1:1q42.12 |
uncertain significance |
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 |
copy number gain |
not provided [RCV002509019] |
Chr1:224230307..243181599 [GRCh37] Chr1:1q42.11-43 |
not provided |
NM_002221.4(ITPKB):c.1085G>A (p.Gly362Glu) |
single nucleotide variant |
not specified [RCV004182087] |
Chr1:226736374 [GRCh38] Chr1:226924075 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1414T>G (p.Ser472Ala) |
single nucleotide variant |
not specified [RCV004241191] |
Chr1:226736045 [GRCh38] Chr1:226923746 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.749G>A (p.Gly250Asp) |
single nucleotide variant |
not specified [RCV004222609] |
Chr1:226736710 [GRCh38] Chr1:226924411 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1817C>T (p.Thr606Met) |
single nucleotide variant |
not specified [RCV004091526] |
Chr1:226735642 [GRCh38] Chr1:226923343 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1768C>T (p.Arg590Trp) |
single nucleotide variant |
not specified [RCV004241661] |
Chr1:226735691 [GRCh38] Chr1:226923392 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1564C>T (p.Arg522Cys) |
single nucleotide variant |
not specified [RCV004099283] |
Chr1:226735895 [GRCh38] Chr1:226923596 [GRCh37] Chr1:1q42.12 |
likely benign |
NM_002221.4(ITPKB):c.896G>A (p.Ser299Asn) |
single nucleotide variant |
not specified [RCV004239272] |
Chr1:226736563 [GRCh38] Chr1:226924264 [GRCh37] Chr1:1q42.12 |
likely benign |
NM_002221.4(ITPKB):c.615G>C (p.Trp205Cys) |
single nucleotide variant |
not specified [RCV004091273] |
Chr1:226736844 [GRCh38] Chr1:226924545 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.979T>C (p.Ser327Pro) |
single nucleotide variant |
not specified [RCV004097684] |
Chr1:226736480 [GRCh38] Chr1:226924181 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.992G>T (p.Arg331Leu) |
single nucleotide variant |
not specified [RCV004115270] |
Chr1:226736467 [GRCh38] Chr1:226924168 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.913G>A (p.Glu305Lys) |
single nucleotide variant |
not specified [RCV004134572] |
Chr1:226736546 [GRCh38] Chr1:226924247 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1703C>T (p.Ala568Val) |
single nucleotide variant |
not specified [RCV004185023] |
Chr1:226735756 [GRCh38] Chr1:226923457 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1775A>G (p.Asn592Ser) |
single nucleotide variant |
not specified [RCV004215762] |
Chr1:226735684 [GRCh38] Chr1:226923385 [GRCh37] Chr1:1q42.12 |
likely benign |
NM_002221.4(ITPKB):c.1907C>T (p.Thr636Ile) |
single nucleotide variant |
not specified [RCV004095704] |
Chr1:226735552 [GRCh38] Chr1:226923253 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.455C>G (p.Ala152Gly) |
single nucleotide variant |
not specified [RCV004096257] |
Chr1:226737004 [GRCh38] Chr1:226924705 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.2269A>G (p.Thr757Ala) |
single nucleotide variant |
not specified [RCV004252234] |
Chr1:226642103 [GRCh38] Chr1:226829804 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.385A>G (p.Arg129Gly) |
single nucleotide variant |
not specified [RCV004275569] |
Chr1:226737074 [GRCh38] Chr1:226924775 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.709C>T (p.Leu237Phe) |
single nucleotide variant |
not specified [RCV004311179] |
Chr1:226736750 [GRCh38] Chr1:226924451 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.370C>T (p.Pro124Ser) |
single nucleotide variant |
not specified [RCV004357170] |
Chr1:226737089 [GRCh38] Chr1:226924790 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1646C>G (p.Pro549Arg) |
single nucleotide variant |
not specified [RCV004349543] |
Chr1:226735813 [GRCh38] Chr1:226923514 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.151G>A (p.Gly51Arg) |
single nucleotide variant |
ITPKB-related disorder [RCV003901022]|not specified [RCV004340576] |
Chr1:226737308 [GRCh38] Chr1:226925009 [GRCh37] Chr1:1q42.12 |
likely benign|uncertain significance |
NM_002221.4(ITPKB):c.1896C>T (p.Ala632=) |
single nucleotide variant |
not specified [RCV003489060] |
Chr1:226735563 [GRCh38] Chr1:226923264 [GRCh37] Chr1:1q42.12 |
benign |
NM_002221.4(ITPKB):c.2625+39C>T |
single nucleotide variant |
not specified [RCV003489220] |
Chr1:226637640 [GRCh38] Chr1:226825341 [GRCh37] Chr1:1q42.12 |
benign |
NM_002221.4(ITPKB):c.1244C>A (p.Pro415His) |
single nucleotide variant |
ITPKB-related disorder [RCV003394408]|not specified [RCV004364462] |
Chr1:226736215 [GRCh38] Chr1:226923916 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.2688C>T (p.Ile896=) |
single nucleotide variant |
not provided [RCV003414842] |
Chr1:226634824 [GRCh38] Chr1:226822525 [GRCh37] Chr1:1q42.12 |
likely benign |
NM_002221.4(ITPKB):c.880G>T (p.Gly294Trp) |
single nucleotide variant |
not provided [RCV003414843] |
Chr1:226736579 [GRCh38] Chr1:226924280 [GRCh37] Chr1:1q42.12 |
likely benign |
NM_002221.4(ITPKB):c.-8C>T |
single nucleotide variant |
not specified [RCV003489246] |
Chr1:226737466 [GRCh38] Chr1:226925167 [GRCh37] Chr1:1q42.12 |
benign |
NM_002221.4(ITPKB):c.1764C>T (p.Ser588=) |
single nucleotide variant |
not specified [RCV003489245] |
Chr1:226735695 [GRCh38] Chr1:226923396 [GRCh37] Chr1:1q42.12 |
benign |
NM_002221.4(ITPKB):c.526T>C (p.Ser176Pro) |
single nucleotide variant |
ITPKB-related disorder [RCV003962260] |
Chr1:226736933 [GRCh38] Chr1:226924634 [GRCh37] Chr1:1q42.12 |
likely benign |
NM_002221.4(ITPKB):c.2833C>G (p.Leu945Val) |
single nucleotide variant |
ITPKB-related disorder [RCV003919575] |
Chr1:226634679 [GRCh38] Chr1:226822380 [GRCh37] Chr1:1q42.12 |
likely benign |
NM_002221.4(ITPKB):c.1832C>T (p.Ser611Phe) |
single nucleotide variant |
not specified [RCV004398565] |
Chr1:226735627 [GRCh38] Chr1:226923328 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.2587A>G (p.Thr863Ala) |
single nucleotide variant |
not specified [RCV004398566] |
Chr1:226637717 [GRCh38] Chr1:226825418 [GRCh37] Chr1:1q42.12 |
likely benign |
NM_002221.4(ITPKB):c.1261G>A (p.Val421Ile) |
single nucleotide variant |
not specified [RCV004398558] |
Chr1:226736198 [GRCh38] Chr1:226923899 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1439C>T (p.Pro480Leu) |
single nucleotide variant |
not specified [RCV004398560] |
Chr1:226736020 [GRCh38] Chr1:226923721 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.144C>G (p.Phe48Leu) |
single nucleotide variant |
not specified [RCV004398562] |
Chr1:226737315 [GRCh38] Chr1:226925016 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.205C>G (p.Pro69Ala) |
single nucleotide variant |
not specified [RCV004633585] |
Chr1:226737254 [GRCh38] Chr1:226924955 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.100C>G (p.Pro34Ala) |
single nucleotide variant |
not specified [RCV004398557] |
Chr1:226737359 [GRCh38] Chr1:226925060 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1397T>C (p.Val466Ala) |
single nucleotide variant |
not specified [RCV004398559] |
Chr1:226736062 [GRCh38] Chr1:226923763 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1799C>T (p.Ser600Phe) |
single nucleotide variant |
not specified [RCV004398563] |
Chr1:226735660 [GRCh38] Chr1:226923361 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.336G>T (p.Gln112His) |
single nucleotide variant |
not specified [RCV004398567] |
Chr1:226737123 [GRCh38] Chr1:226924824 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.530C>T (p.Pro177Leu) |
single nucleotide variant |
not specified [RCV004398568] |
Chr1:226736929 [GRCh38] Chr1:226924630 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.633G>C (p.Glu211Asp) |
single nucleotide variant |
not specified [RCV004398570] |
Chr1:226736826 [GRCh38] Chr1:226924527 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.2209G>A (p.Asp737Asn) |
single nucleotide variant |
not specified [RCV004633586] |
Chr1:226647204 [GRCh38] Chr1:226834905 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NC_000001.10:g.(?_225591005)_(227174438_?)del |
deletion |
not provided [RCV004579153] |
Chr1:225591005..227174438 [GRCh37] Chr1:1q42.12-42.13 |
pathogenic |
NM_002221.4(ITPKB):c.667C>A (p.Pro223Thr) |
single nucleotide variant |
not specified [RCV004633583] |
Chr1:226736792 [GRCh38] Chr1:226924493 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.2278C>T (p.Arg760Trp) |
single nucleotide variant |
not specified [RCV004633581] |
Chr1:226642094 [GRCh38] Chr1:226829795 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1454C>T (p.Ala485Val) |
single nucleotide variant |
not specified [RCV004633582] |
Chr1:226736005 [GRCh38] Chr1:226923706 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1342C>T (p.Pro448Ser) |
single nucleotide variant |
not specified [RCV004633584] |
Chr1:226736117 [GRCh38] Chr1:226923818 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.2270C>T (p.Thr757Met) |
single nucleotide variant |
not specified [RCV004934503] |
Chr1:226642102 [GRCh38] Chr1:226829803 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.614G>C (p.Trp205Ser) |
single nucleotide variant |
not specified [RCV004934505] |
Chr1:226736845 [GRCh38] Chr1:226924546 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1346C>T (p.Thr449Met) |
single nucleotide variant |
not specified [RCV004934507] |
Chr1:226736113 [GRCh38] Chr1:226923814 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1604A>G (p.Gln535Arg) |
single nucleotide variant |
not specified [RCV004934504] |
Chr1:226735855 [GRCh38] Chr1:226923556 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1271A>G (p.Glu424Gly) |
single nucleotide variant |
not specified [RCV004934506] |
Chr1:226736188 [GRCh38] Chr1:226923889 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.1510G>C (p.Gly504Arg) |
single nucleotide variant |
not specified [RCV004934508] |
Chr1:226735949 [GRCh38] Chr1:226923650 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.109C>G (p.Pro37Ala) |
single nucleotide variant |
not specified [RCV004934509] |
Chr1:226737350 [GRCh38] Chr1:226925051 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.328C>T (p.Arg110Trp) |
single nucleotide variant |
not specified [RCV004934510] |
Chr1:226737131 [GRCh38] Chr1:226924832 [GRCh37] Chr1:1q42.12 |
uncertain significance |
NM_002221.4(ITPKB):c.2092C>T (p.Arg698Cys) |
single nucleotide variant |
not specified [RCV004934511] |
Chr1:226647321 [GRCh38] Chr1:226835022 [GRCh37] Chr1:1q42.12 |
uncertain significance |