Single allele |
deletion |
Intellectual disability [RCV001293367] |
Chr2:237201756..243048760 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 |
copy number loss |
See cases [RCV000050304] |
Chr2:231770279..242126245 [GRCh38] Chr2:232634989..243059659 [GRCh37] Chr2:232343233..242717069 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:241582713-242065208)x1 |
copy number loss |
See cases [RCV000050955] |
Chr2:241582713..242065208 [GRCh38] Chr2:242522128..243007359 [GRCh37] Chr2:242170801..242656032 [NCBI36] Chr2:2q37.3 |
uncertain significance |
GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1 |
copy number loss |
See cases [RCV000051120] |
Chr2:236555233..242126245 [GRCh38] Chr2:237463876..243059659 [GRCh37] Chr2:237128615..242717069 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1 |
copy number loss |
See cases [RCV000051133] |
Chr2:237643996..242126245 [GRCh38] Chr2:238552639..243059659 [GRCh37] Chr2:238217378..242717069 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1 |
copy number loss |
See cases [RCV000051163] |
Chr2:234345842..242126245 [GRCh38] Chr2:235254486..243059659 [GRCh37] Chr2:234919225..242717069 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1 |
copy number loss |
See cases [RCV000052674] |
Chr2:236775572..242065349 [GRCh38] Chr2:237684215..243007500 [GRCh37] Chr2:237348954..242656173 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1 |
copy number loss |
See cases [RCV000052675] |
Chr2:237526184..241996090 [GRCh38] Chr2:238434827..242938241 [GRCh37] Chr2:238099566..242586914 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:237643996-242065208)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|See cases [RCV000052700] |
Chr2:237643996..242065208 [GRCh38] Chr2:238552639..243007359 [GRCh37] Chr2:238217378..242656032 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:238939181-242065208)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|See cases [RCV000052701] |
Chr2:238939181..242065208 [GRCh38] Chr2:239860877..243007359 [GRCh37] Chr2:239525814..242656032 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1 |
copy number loss |
See cases [RCV000052702] |
Chr2:240067206..242086301 [GRCh38] Chr2:241006623..243028452 [GRCh37] Chr2:240655296..242677125 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1 |
copy number loss |
See cases [RCV000052703] |
Chr2:240444819..242086301 [GRCh38] Chr2:241384236..243028452 [GRCh37] Chr2:241032909..242677125 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:240506951-242065349)x1 |
copy number loss |
See cases [RCV000052704] |
Chr2:240506951..242065349 [GRCh38] Chr2:241446368..243007500 [GRCh37] Chr2:241095041..242656173 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:241179464-242065349)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052705]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052705]|See cases [RCV000052705] |
Chr2:241179464..242065349 [GRCh38] Chr2:242118879..243007500 [GRCh37] Chr2:241767552..242656173 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:241249295-242086301)x1 |
copy number loss |
See cases [RCV000052706] |
Chr2:241249295..242086301 [GRCh38] Chr2:242188710..243028452 [GRCh37] Chr2:241837383..242677125 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:241179664-242065208)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052707]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052707]|See cases [RCV000052707] |
Chr2:241179664..242065208 [GRCh38] Chr2:242119079..243007359 [GRCh37] Chr2:241767752..242656032 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1 |
copy number loss |
See cases [RCV000052669] |
Chr2:234172536..242086301 [GRCh38] Chr2:235081180..243028452 [GRCh37] Chr2:234745919..242677125 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1 |
copy number loss |
See cases [RCV000052670] |
Chr2:234668159..242126245 [GRCh38] Chr2:235576803..243059659 [GRCh37] Chr2:235241542..242717069 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|See cases [RCV000052671] |
Chr2:234906462..242065208 [GRCh38] Chr2:235815106..243007359 [GRCh37] Chr2:235479845..242656032 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic |
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1 |
copy number loss |
See cases [RCV000052672] |
Chr2:235268768..242065208 [GRCh38] Chr2:236177412..243007359 [GRCh37] Chr2:235842151..242656032 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic |
GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1 |
copy number loss |
See cases [RCV000052673] |
Chr2:235741079..242032456 [GRCh38] Chr2:236649723..242974607 [GRCh37] Chr2:236314462..242623280 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic |
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] |
Chr2:231375505..242065208 [GRCh38] Chr2:232240216..243007359 [GRCh37] Chr2:231948460..242656032 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 |
copy number loss |
See cases [RCV000052640] |
Chr2:232857728..242065349 [GRCh38] Chr2:233722438..243007500 [GRCh37] Chr2:233430682..242656173 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 |
copy number loss |
See cases [RCV000052641] |
Chr2:233420162..242086301 [GRCh38] Chr2:233995840..243028452 [GRCh37] Chr2:233704084..242677125 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 |
copy number loss |
See cases [RCV000052642] |
Chr2:233453611..242099155 [GRCh38] Chr2:234362257..243041306 [GRCh37] Chr2:234026996..242689979 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3 |
copy number gain |
See cases [RCV000052976] |
Chr2:235268768..242126245 [GRCh38] Chr2:236177412..243059659 [GRCh37] Chr2:235842151..242717069 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic |
GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3 |
copy number gain |
See cases [RCV000052977] |
Chr2:235563664..242086301 [GRCh38] Chr2:236472308..243028452 [GRCh37] Chr2:236137047..242677125 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:240910571-242126392)x3 |
copy number gain |
See cases [RCV000052980] |
Chr2:240910571..242126392 [GRCh38] Chr2:241849988..243059659 [GRCh37] Chr2:241498661..242717216 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 |
copy number gain |
See cases [RCV000052958] |
Chr2:188818195..242065208 [GRCh38] Chr2:189682921..243007359 [GRCh37] Chr2:189391166..242656032 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 |
copy number gain |
See cases [RCV000052959] |
Chr2:190310736..241892770 [GRCh38] Chr2:191175462..242834921 [GRCh37] Chr2:190883707..242483594 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] |
Chr2:223992431..242126245 [GRCh38] Chr2:224857148..243059659 [GRCh37] Chr2:224565392..242717069 [NCBI36] Chr2:2q36.1-37.3 |
pathogenic |
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 |
copy number gain |
See cases [RCV000052973] |
Chr2:227803148..242086301 [GRCh38] Chr2:228667864..243028452 [GRCh37] Chr2:228376108..242677125 [NCBI36] Chr2:2q36.3-37.3 |
pathogenic |
GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 |
copy number loss |
See cases [RCV000446034] |
Chr2:233784243..243040217 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:241522479-242126245)x3 |
copy number gain |
See cases [RCV000133843] |
Chr2:241522479..242126245 [GRCh38] Chr2:242461894..243059659 [GRCh37] Chr2:242110567..242717069 [NCBI36] Chr2:2q37.3 |
uncertain significance |
GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3 |
copy number gain |
See cases [RCV000133659] |
Chr2:238756369..241771051 [GRCh38] Chr2:239665010..242710466 [GRCh37] Chr2:239329749..242359139 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:241481406-242126245)x1 |
copy number loss |
See cases [RCV000134170] |
Chr2:241481406..242126245 [GRCh38] Chr2:242420821..243059659 [GRCh37] Chr2:242069494..242717069 [NCBI36] Chr2:2q37.3 |
uncertain significance |
GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1 |
copy number loss |
See cases [RCV000135842] |
Chr2:240171137..242065208 [GRCh38] Chr2:241110554..243007359 [GRCh37] Chr2:240759227..242656032 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1 |
copy number loss |
See cases [RCV000135864] |
Chr2:237034476..242065208 [GRCh38] Chr2:237943119..243007359 [GRCh37] Chr2:237607858..242656032 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1 |
copy number loss |
See cases [RCV000135570] |
Chr2:236966763..242065208 [GRCh38] Chr2:237875406..243007359 [GRCh37] Chr2:237540145..242656032 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1 |
copy number loss |
See cases [RCV000135545] |
Chr2:240507151..242065208 [GRCh38] Chr2:241446568..243007359 [GRCh37] Chr2:241095241..242656032 [NCBI36] Chr2:2q37.3 |
likely pathogenic |
GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1 |
copy number loss |
See cases [RCV000136566] |
Chr2:237232204..242065208 [GRCh38] Chr2:238140847..243007359 [GRCh37] Chr2:237805586..242656032 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 |
copy number gain |
See cases [RCV000135934] |
Chr2:210579676..242126245 [GRCh38] Chr2:211444400..243059659 [GRCh37] Chr2:211152645..242717069 [NCBI36] Chr2:2q34-37.3 |
pathogenic |
GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1 |
copy number loss |
See cases [RCV000136968] |
Chr2:235028429..242066108 [GRCh38] Chr2:235937073..243008259 [GRCh37] Chr2:235601812..242656932 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic |
GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1 |
copy number loss |
See cases [RCV000137069] |
Chr2:234835780..242065208 [GRCh38] Chr2:235744424..243007359 [GRCh37] Chr2:235409163..242656032 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic |
GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1 |
copy number loss |
See cases [RCV000136648] |
Chr2:235603604..241771051 [GRCh38] Chr2:236512248..242710466 [GRCh37] Chr2:236176987..242359139 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic|uncertain significance |
GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1 |
copy number loss |
See cases [RCV000136686] |
Chr2:240067206..242126245 [GRCh38] Chr2:241006623..243059659 [GRCh37] Chr2:240655296..242717069 [NCBI36] Chr2:2q37.3 |
pathogenic|uncertain significance |
GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1 |
copy number loss |
See cases [RCV000138117] |
Chr2:238833519..242126245 [GRCh38] Chr2:239742160..243059659 [GRCh37] Chr2:239406907..242717069 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1 |
copy number loss |
See cases [RCV000138565] |
Chr2:240187901..242126245 [GRCh38] Chr2:241127318..243059659 [GRCh37] Chr2:240775991..242717069 [NCBI36] Chr2:2q37.3 |
likely pathogenic |
GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1 |
copy number loss |
See cases [RCV000139808] |
Chr2:237902870..242126251 [GRCh38] Chr2:238811512..243059659 [GRCh37] Chr2:238476251..242717075 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1 |
copy number loss |
See cases [RCV000139527] |
Chr2:236775762..242126251 [GRCh38] Chr2:237684405..243059659 [GRCh37] Chr2:237349144..242717075 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1 |
copy number loss |
See cases [RCV000139805] |
Chr2:236413722..242126251 [GRCh38] Chr2:237322365..243059659 [GRCh37] Chr2:236987104..242717075 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1 |
copy number loss |
See cases [RCV000140648] |
Chr2:240228628..242126245 [GRCh38] Chr2:241168045..243059659 [GRCh37] Chr2:240816718..242717069 [NCBI36] Chr2:2q37.3 |
uncertain significance |
GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1 |
copy number loss |
See cases [RCV000141077] |
Chr2:240671231..242092126 [GRCh38] Chr2:241610648..243034277 [GRCh37] Chr2:241259321..242682950 [NCBI36] Chr2:2q37.3 |
likely pathogenic |
GRCh38/hg38 2q37.3(chr2:241565848-242110155)x1 |
copy number loss |
See cases [RCV000141625] |
Chr2:241565848..242110155 [GRCh38] Chr2:242505263..243052306 [GRCh37] Chr2:242153936..242700979 [NCBI36] Chr2:2q37.3 |
uncertain significance |
GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1 |
copy number loss |
See cases [RCV000141661] |
Chr2:235846916..241841232 [GRCh38] Chr2:236755560..242783384 [GRCh37] Chr2:236420299..242432057 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1 |
copy number loss |
See cases [RCV000141691] |
Chr2:239507342..241841232 [GRCh38] Chr2:240429036..242783384 [GRCh37] Chr2:240093973..242432057 [NCBI36] Chr2:2q37.3 |
pathogenic |
GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1 |
copy number loss |
See cases [RCV000142291] |
Chr2:234159653..241841232 [GRCh38] Chr2:235068297..242783384 [GRCh37] Chr2:234733036..242432057 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 |
copy number gain |
See cases [RCV000142307] |
Chr2:189436149..241841232 [GRCh38] Chr2:190300875..242783384 [GRCh37] Chr2:190009120..242432057 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1 |
copy number loss |
See cases [RCV000143423] |
Chr2:239642965..241841232 [GRCh38] Chr2:240564659..242783384 [GRCh37] Chr2:240229596..242432057 [NCBI36] Chr2:2q37.3 |
likely pathogenic |
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 |
copy number gain |
See cases [RCV000143216] |
Chr2:218101759..242126245 [GRCh38] Chr2:218966482..243059659 [GRCh37] Chr2:218674727..242717069 [NCBI36] Chr2:2q35-37.3 |
pathogenic |
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 |
copy number loss |
See cases [RCV000148260] |
Chr2:231770279..242126245 [GRCh38] Chr2:232634989..243059659 [GRCh37] Chr2:232343233..242717069 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:239873381-243006013)x3 |
copy number gain |
See cases [RCV000167564] |
Chr2:239873381..243006013 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:237816758-242783384)x1 |
copy number loss |
See cases [RCV000449023] |
Chr2:237816758..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:242416476-242783384)x1 |
copy number loss |
See cases [RCV000446678] |
Chr2:242416476..242783384 [GRCh37] Chr2:2q37.3 |
uncertain significance |
GRCh37/hg19 2q37.3(chr2:237938270-242783384)x1 |
copy number loss |
See cases [RCV000446532] |
Chr2:237938270..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:242539054-242783384)x3 |
copy number gain |
See cases [RCV000447061] |
Chr2:242539054..242783384 [GRCh37] Chr2:2q37.3 |
uncertain significance |
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 |
copy number loss |
See cases [RCV000446061] |
Chr2:234495262..242783384 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
GRCh37/hg19 2q37.2-37.3(chr2:236285213-242783384)x1 |
copy number loss |
See cases [RCV000445750] |
Chr2:236285213..242783384 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:242045569-243040217)x1 |
copy number loss |
See cases [RCV000448540] |
Chr2:242045569..243040217 [GRCh37] Chr2:2q37.3 |
likely pathogenic |
GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1 |
copy number loss |
See cases [RCV000447929] |
Chr2:238072533..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.2-37.3(chr2:236911223-242783384)x1 |
copy number loss |
See cases [RCV000447965] |
Chr2:236911223..242783384 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
GRCh37/hg19 2q37.2-37.3(chr2:236577291-242783384)x1 |
copy number loss |
See cases [RCV000448691] |
Chr2:236577291..242783384 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 |
copy number loss |
See cases [RCV000512077] |
Chr2:234495262..242783384 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:240541136-242783384)x1 |
copy number loss |
See cases [RCV000510186] |
Chr2:240541136..242783384 [GRCh37] Chr2:2q37.3 |
likely pathogenic |
GRCh37/hg19 2q37.3(chr2:239748306-242783384)x1 |
copy number loss |
See cases [RCV000510310] |
Chr2:239748306..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:242305098-242783384)x3 |
copy number gain |
See cases [RCV000510462] |
Chr2:242305098..242783384 [GRCh37] Chr2:2q37.3 |
uncertain significance |
GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1 |
copy number loss |
See cases [RCV000511491] |
Chr2:235539337..242783384 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:240630455-242783384)x1 |
copy number loss |
See cases [RCV000511956] |
Chr2:240630455..242783384 [GRCh37] Chr2:2q37.3 |
likely pathogenic |
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 |
copy number gain |
See cases [RCV000512009] |
Chr2:213518431..242783384 [GRCh37] Chr2:2q34-37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:240161377-242783384)x1 |
copy number loss |
See cases [RCV000511227] |
Chr2:240161377..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:240141439-242783384)x3 |
copy number gain |
See cases [RCV000512298] |
Chr2:240141439..242783384 [GRCh37] Chr2:2q37.3 |
likely pathogenic |
GRCh37/hg19 2q37.3(chr2:237545100-242783384)x1 |
copy number loss |
See cases [RCV000512231] |
Chr2:237545100..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:241997911-242783384)x3 |
copy number gain |
See cases [RCV000512463] |
Chr2:241997911..242783384 [GRCh37] Chr2:2q37.3 |
uncertain significance |
GRCh37/hg19 2q37.3(chr2:242016876-242783384)x1 |
copy number loss |
not provided [RCV000682102] |
Chr2:242016876..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:241810311-242783384)x1 |
copy number loss |
not provided [RCV000682110] |
Chr2:241810311..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:240457943-242783384)x1 |
copy number loss |
not provided [RCV000682145] |
Chr2:240457943..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:240076138-242783384)x1 |
copy number loss |
not provided [RCV000682146] |
Chr2:240076138..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:239884390-242783384)x1 |
copy number loss |
not provided [RCV000682148] |
Chr2:239884390..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1 |
copy number loss |
not provided [RCV000682160] |
Chr2:235790256..242783384 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3 |
copy number gain |
not provided [RCV000682161] |
Chr2:234716425..242783384 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:238037759-243101834)x1 |
copy number loss |
not provided [RCV000740979] |
Chr2:238037759..243101834 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:241847589-243101834)x1 |
copy number loss |
not provided [RCV000741039] |
Chr2:241847589..243101834 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:242560241-242838636)x3 |
copy number gain |
not provided [RCV000741052] |
Chr2:242560241..242838636 [GRCh37] Chr2:2q37.3 |
benign |
GRCh37/hg19 2q37.3(chr2:240112450-242783384)x1 |
copy number loss |
not provided [RCV001005385] |
Chr2:240112450..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
NM_012145.4(DTYMK):c.103C>T (p.His35Tyr) |
single nucleotide variant |
not provided [RCV000904768] |
Chr2:241686681 [GRCh38] Chr2:242626096 [GRCh37] Chr2:2q37.3 |
benign |
GRCh37/hg19 2q37.3(chr2:238795602-242918203) |
copy number loss |
Chromosome 2q37 deletion syndrome [RCV000767788] |
Chr2:238795602..242918203 [GRCh37] Chr2:2q37.3 |
likely pathogenic |
GRCh37/hg19 2q37.3(chr2:239071623-243048760) |
copy number loss |
Chromosome 2q37 deletion syndrome [RCV000767789] |
Chr2:239071623..243048760 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080) |
copy number loss |
Chromosome 2q37 deletion syndrome [RCV000767787] |
Chr2:237028693..242708080 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:241880799-242783384)x1 |
copy number loss |
not provided [RCV001005387] |
Chr2:241880799..242783384 [GRCh37] Chr2:2q37.3 |
likely pathogenic |
GRCh37/hg19 2q37.3(chr2:241404033-242684292)x1 |
copy number loss |
not provided [RCV000997728] |
Chr2:241404033..242684292 [GRCh37] Chr2:2q37.3 |
uncertain significance |
GRCh37/hg19 2q37.3(chr2:239894072-243048760)x1 |
copy number loss |
See cases [RCV000790569] |
Chr2:239894072..243048760 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1 |
copy number loss |
not provided [RCV001007522] |
Chr2:234791927..242783384 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 |
copy number gain |
not provided [RCV001007519] |
Chr2:230814690..242783384 [GRCh37] Chr2:2q36.3-37.3 |
pathogenic |
GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1 |
copy number loss |
not provided [RCV002472625] |
Chr2:235942616..242783384 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3 |
copy number gain |
not provided [RCV001005380] |
Chr2:237265271..242783384 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:242011633-243199373)x1 |
copy number loss |
not provided [RCV001005388] |
Chr2:242011633..243199373 [GRCh37] Chr2:2q37.3 |
likely pathogenic |
GRCh37/hg19 2q37.3(chr2:242340265-242783384)x1 |
copy number loss |
not provided [RCV001005390] |
Chr2:242340265..242783384 [GRCh37] Chr2:2q37.3 |
likely pathogenic |
GRCh37/hg19 2q37.3(chr2:241810850-243048760)x3 |
copy number gain |
See cases [RCV001194552] |
Chr2:241810850..243048760 [GRCh37] Chr2:2q37.3 |
uncertain significance |
GRCh37/hg19 2q37.3(chr2:241791028-242842568)x3 |
copy number gain |
See cases [RCV001194599] |
Chr2:241791028..242842568 [GRCh37] Chr2:2q37.3 |
uncertain significance |
GRCh37/hg19 2q37.3(chr2:239914717-242783384)x1 |
copy number loss |
not provided [RCV001005384] |
Chr2:239914717..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3 |
copy number gain |
See cases [RCV001194532] |
Chr2:238863455..243048760 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NC_000002.11:g.(?_241808273)_(242708241_?)del |
deletion |
not provided [RCV001031165] |
Chr2:241808273..242708241 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:242471243-242760670)x3 |
copy number gain |
not provided [RCV001259193] |
Chr2:242471243..242760670 [GRCh37] Chr2:2q37.3 |
uncertain significance |
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 |
copy number loss |
Chromosome 2q37 deletion syndrome [RCV001263221] |
Chr2:233110452..243028452 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 |
copy number gain |
See cases [RCV001263052] |
Chr2:178397959..243007457 [GRCh37] Chr2:2q31.2-37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_012145.4(DTYMK):c.382G>A (p.Asp128Asn) |
single nucleotide variant |
Neurodegeneration, childhood-onset, with progressive microcephaly [RCV002248380] |
Chr2:241678598 [GRCh38] Chr2:242618013 [GRCh37] Chr2:2q37.3 |
pathogenic |
NM_012145.4(DTYMK):c.242C>T (p.Pro81Leu) |
single nucleotide variant |
Neurodegeneration, childhood-onset, with progressive microcephaly [RCV002248381] |
Chr2:241680317 [GRCh38] Chr2:242619732 [GRCh37] Chr2:2q37.3 |
pathogenic |
Single allele |
deletion |
Chromosome 2q37 deletion syndrome [RCV002247720] |
Chr2:236710422..242106504 [GRCh38] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:242580355-242783384)x1 |
copy number loss |
not provided [RCV001827824] |
Chr2:242580355..242783384 [GRCh37] Chr2:2q37.3 |
uncertain significance |
GRCh37/hg19 2q37.3(chr2:237499041-242783384)x1 |
copy number loss |
not provided [RCV001827851] |
Chr2:237499041..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:239436367-242783384)x1 |
copy number loss |
not provided [RCV001834263] |
Chr2:239436367..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:240208466-243199373)x3 |
copy number gain |
not provided [RCV001827620] |
Chr2:240208466..243199373 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NC_000002.11:g.(?_236877086)_(242801596_?)del |
deletion |
not provided [RCV001956380] |
Chr2:236877086..242801596 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
NC_000002.11:g.(?_236403331)_(242801596_?)dup |
duplication |
not provided [RCV001879163] |
Chr2:236403331..242801596 [GRCh37] Chr2:2q37.2-37.3 |
uncertain significance |
NC_000002.11:g.(?_238233417)_(242801596_?)del |
deletion |
D-2-hydroxyglutaric aciduria 1 [RCV003120750]|Hereditary spastic paraplegia 30 [RCV001920651]|not provided [RCV001920650] |
Chr2:238233417..242801596 [GRCh37] Chr2:2q37.3 |
pathogenic|uncertain significance|no classifications from unflagged records |
NC_000002.11:g.(?_238233417)_(242800990_?)dup |
duplication |
D-2-hydroxyglutaric aciduria 1 [RCV001918744]|Hereditary spastic paraplegia 30 [RCV001942893] |
Chr2:238233417..242800990 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NC_000002.11:g.(?_236403331)_(242801596_?)del |
deletion |
Bethlem myopathy 1A [RCV003113452] |
Chr2:236403331..242801596 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
NM_012145.4(DTYMK):c.287_320del (p.Asp96fs) |
deletion |
Neurodegeneration, childhood-onset, with progressive microcephaly [RCV002248378] |
Chr2:241680239..241680272 [GRCh38] Chr2:242619654..242619687 [GRCh37] Chr2:2q37.3 |
pathogenic |
NM_012145.4(DTYMK):c.295G>A (p.Ala99Thr) |
single nucleotide variant |
Neurodegeneration, childhood-onset, with progressive microcephaly [RCV002248379] |
Chr2:241680264 [GRCh38] Chr2:242619679 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:239229304-243199373)x1 |
copy number loss |
not provided [RCV002293050] |
Chr2:239229304..243199373 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384) |
copy number loss |
Chromosome 2q37 deletion syndrome [RCV002280739] |
Chr2:233227837..242783384 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384) |
copy number loss |
Chromosome 2q37 deletion syndrome [RCV002280740] |
Chr2:236472789..242783384 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:242379032-242783384)x1 |
copy number loss |
not provided [RCV002473812] |
Chr2:242379032..242783384 [GRCh37] Chr2:2q37.3 |
uncertain significance |
GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1 |
copy number loss |
not provided [RCV002473939] |
Chr2:236878509..242783384 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
NM_012145.4(DTYMK):c.8C>T (p.Ala3Val) |
single nucleotide variant |
not specified [RCV004108952] |
Chr2:241686776 [GRCh38] Chr2:242626191 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.52G>A (p.Gly18Arg) |
single nucleotide variant |
not specified [RCV004100802] |
Chr2:241686732 [GRCh38] Chr2:242626147 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.475C>T (p.Arg159Trp) |
single nucleotide variant |
not specified [RCV004096436] |
Chr2:241678505 [GRCh38] Chr2:242617920 [GRCh37] Chr2:2q37.3 |
uncertain significance |
GRCh37/hg19 2q37.3(chr2:242533423-242783384)x3 |
copy number gain |
not provided [RCV002475530] |
Chr2:242533423..242783384 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.592G>A (p.Ala198Thr) |
single nucleotide variant |
not specified [RCV004175276] |
Chr2:241676174 [GRCh38] Chr2:242615589 [GRCh37] Chr2:2q37.3 |
likely benign |
NM_012145.4(DTYMK):c.11G>T (p.Arg4Leu) |
single nucleotide variant |
not specified [RCV004216254] |
Chr2:241686773 [GRCh38] Chr2:242626188 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.86C>G (p.Ala29Gly) |
single nucleotide variant |
not specified [RCV004076021] |
Chr2:241686698 [GRCh38] Chr2:242626113 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.617C>T (p.Pro206Leu) |
single nucleotide variant |
not specified [RCV004128041] |
Chr2:241676149 [GRCh38] Chr2:242615564 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.364G>A (p.Val122Met) |
single nucleotide variant |
not specified [RCV004176476] |
Chr2:241678616 [GRCh38] Chr2:242618031 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.542C>T (p.Ser181Phe) |
single nucleotide variant |
not specified [RCV004105071] |
Chr2:241676224 [GRCh38] Chr2:242615639 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.37G>A (p.Gly13Ser) |
single nucleotide variant |
not specified [RCV004332721] |
Chr2:241686747 [GRCh38] Chr2:242626162 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.5C>T (p.Ala2Val) |
single nucleotide variant |
not specified [RCV004263221] |
Chr2:241686779 [GRCh38] Chr2:242626194 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.433G>A (p.Ala145Thr) |
single nucleotide variant |
not specified [RCV004352593] |
Chr2:241678547 [GRCh38] Chr2:242617962 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.85G>T (p.Ala29Ser) |
single nucleotide variant |
not specified [RCV004339827] |
Chr2:241686699 [GRCh38] Chr2:242626114 [GRCh37] Chr2:2q37.3 |
uncertain significance |
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 |
copy number gain |
not provided [RCV003484087] |
Chr2:218376403..242783384 [GRCh37] Chr2:2q35-37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1 |
copy number loss |
not provided [RCV003485294] |
Chr2:238460671..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:242589861-242783384)x3 |
copy number gain |
not provided [RCV003484103] |
Chr2:242589861..242783384 [GRCh37] Chr2:2q37.3 |
uncertain significance |
Single allele |
duplication |
not provided [RCV003448672] |
Chr2:230077026..243049549 [GRCh37] Chr2:2q36.3-37.3 |
pathogenic |
NM_012145.4(DTYMK):c.189G>A (p.Val63=) |
single nucleotide variant |
not provided [RCV004810035] |
Chr2:241685819 [GRCh38] Chr2:242625234 [GRCh37] Chr2:2q37.3 |
likely benign |
NM_012145.4(DTYMK):c.513G>A (p.Thr171=) |
single nucleotide variant |
not provided [RCV003440298] |
Chr2:241678467 [GRCh38] Chr2:242617882 [GRCh37] Chr2:2q37.3 |
likely benign |
GRCh37/hg19 2q37.3(chr2:242539055-242783384)x3 |
copy number gain |
not specified [RCV003986386] |
Chr2:242539055..242783384 [GRCh37] Chr2:2q37.3 |
uncertain significance |
GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1 |
copy number loss |
not specified [RCV003986344] |
Chr2:236057846..242783384 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1 |
copy number loss |
not specified [RCV003986335] |
Chr2:236726690..242783384 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 |
copy number gain |
See cases [RCV004442836] |
Chr2:216815496..242782258 [GRCh37] Chr2:2q35-37.3 |
pathogenic |
GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1 |
copy number loss |
See cases [RCV004442769] |
Chr2:239671606..242782258 [GRCh37] Chr2:2q37.3 |
pathogenic |
NM_012145.4(DTYMK):c.239+1045_239+1050del |
deletion |
Neurodegeneration, childhood-onset, with progressive microcephaly [RCV003990313] |
Chr2:241684719..241684724 [GRCh38] Chr2:242624134..242624139 [GRCh37] Chr2:2q37.3 |
uncertain significance |
GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1 |
copy number loss |
See cases [RCV004442765] |
Chr2:235267074..242782258 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
NM_012145.4(DTYMK):c.145A>C (p.Ile49Leu) |
single nucleotide variant |
not specified [RCV004379543] |
Chr2:241685863 [GRCh38] Chr2:242625278 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.427C>T (p.Arg143Trp) |
single nucleotide variant |
not specified [RCV004379546] |
Chr2:241678553 [GRCh38] Chr2:242617968 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.302C>G (p.Ser101Cys) |
single nucleotide variant |
not specified [RCV004379545] |
Chr2:241680257 [GRCh38] Chr2:242619672 [GRCh37] Chr2:2q37.3 |
uncertain significance |
GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1 |
copy number loss |
not provided [RCV004577474] |
Chr2:236478472..243048854 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
NM_012145.4(DTYMK):c.183T>G (p.Ser61Arg) |
single nucleotide variant |
not specified [RCV004379544] |
Chr2:241685825 [GRCh38] Chr2:242625240 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.593C>T (p.Ala198Val) |
single nucleotide variant |
not specified [RCV004379547] |
Chr2:241676173 [GRCh38] Chr2:242615588 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NC_000002.11:g.(?_237481970)_(242801596_?)del |
deletion |
Bethlem myopathy 1A [RCV004583694] |
Chr2:237481970..242801596 [GRCh37] Chr2:2q37.3 |
pathogenic |
NM_012145.4(DTYMK):c.25A>G (p.Ile9Val) |
single nucleotide variant |
not specified [RCV004914593] |
Chr2:241686759 [GRCh38] Chr2:242626174 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.389T>G (p.Val130Gly) |
single nucleotide variant |
not specified [RCV004914595] |
Chr2:241678591 [GRCh38] Chr2:242618006 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.31C>G (p.Leu11Val) |
single nucleotide variant |
not specified [RCV004914596] |
Chr2:241686753 [GRCh38] Chr2:242626168 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.106C>G (p.Arg36Gly) |
single nucleotide variant |
not specified [RCV004914597] |
Chr2:241686678 [GRCh38] Chr2:242626093 [GRCh37] Chr2:2q37.3 |
uncertain significance |
NM_012145.4(DTYMK):c.10C>T (p.Arg4Trp) |
single nucleotide variant |
not specified [RCV004914594] |
Chr2:241686774 [GRCh38] Chr2:242626189 [GRCh37] Chr2:2q37.3 |
uncertain significance |
GRCh37/hg19 2q37.3(chr2:241644934-242783384)x1 |
copy number loss |
not provided [RCV004819334] |
Chr2:241644934..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |