| NM_007357.3(COG2):c.1855C>T (p.Gln619Ter) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001291776] |
Chr1:230690074 [GRCh38]
Chr1:230825820 [GRCh37]
Chr1:1q42.2 |
likely pathogenic |
| NM_007357.3(COG2):c.1014T>C (p.Asp338=) |
single nucleotide variant |
COG2-related disorder [RCV003935565]|Congenital disorder of glycosylation, type IIq [RCV000547408]|not provided [RCV003420000] |
Chr1:230675112 [GRCh38]
Chr1:230810858 [GRCh37]
Chr1:1q42.2 |
benign|likely benign |
| GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3 |
copy number gain |
See cases [RCV000050291] |
Chr1:230519755..231232066 [GRCh38]
Chr1:230655501..231367812 [GRCh37]
Chr1:228722124..229434435 [NCBI36]
Chr1:1q42.2 |
uncertain significance |
| 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 1q42.13-42.2(chr1:229883805-231517553)x3 |
copy number gain |
See cases [RCV000051559] |
Chr1:229883805..231517553 [GRCh38]
Chr1:230019552..231653299 [GRCh37]
Chr1:228086175..229719922 [NCBI36]
Chr1:1q42.13-42.2 |
uncertain significance |
| GRCh38/hg38 1q42.13-42.2(chr1:230489657-231243203)x3 |
copy number gain |
See cases [RCV000051560] |
Chr1:230489657..231243203 [GRCh38]
Chr1:230625403..231378949 [GRCh37]
Chr1:228692026..229445572 [NCBI36]
Chr1:1q42.13-42.2 |
uncertain significance |
| GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 |
copy number loss |
See cases [RCV000051082] |
Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44 |
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 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 1q42.11-44(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 1q42.2(chr1:230693760-230780212)x1 |
copy number loss |
See cases [RCV000053984] |
Chr1:230693760..230780212 [GRCh38]
Chr1:230829506..230915958 [GRCh37]
Chr1:228896129..228982581 [NCBI36]
Chr1:1q42.2 |
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 1q42.13-44(chr1:229022909-248918469)x3 |
copy number gain |
See cases [RCV000136666] |
Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44 |
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 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 |
| GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3 |
copy number gain |
See cases [RCV000148222] |
Chr1:230519755..231232066 [GRCh38]
Chr1:230655501..231367812 [GRCh37]
Chr1:228722124..229434435 [NCBI36]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.912T>A (p.Asn304Lys) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000528907]|not provided [RCV001672875] |
Chr1:230675010 [GRCh38]
Chr1:230810756 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.595C>T (p.Arg199Cys) |
single nucleotide variant |
not specified [RCV004307472] |
Chr1:230669356 [GRCh38]
Chr1:230805102 [GRCh37]
Chr1:1q42.2 |
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 1q42.13-42.2(chr1:230305556-230783070)x3 |
copy number gain |
See cases [RCV000447473] |
Chr1:230305556..230783070 [GRCh37]
Chr1:1q42.13-42.2 |
uncertain significance |
| NM_007357.3(COG2):c.701dup (p.Tyr234Ter) |
duplication |
Congenital disorder of glycosylation, type IIq [RCV000477692] |
Chr1:230669461..230669462 [GRCh38]
Chr1:230805207..230805208 [GRCh37]
Chr1:1q42.2 |
pathogenic |
| NM_007357.3(COG2):c.1900T>G (p.Trp634Gly) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000477726] |
Chr1:230690119 [GRCh38]
Chr1:230825865 [GRCh37]
Chr1:1q42.2 |
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 1q42.13-42.2(chr1:230619349-231413907)x3 |
copy number gain |
See cases [RCV000511859] |
Chr1:230619349..231413907 [GRCh37]
Chr1:1q42.13-42.2 |
uncertain significance |
| 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 |
| GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 |
copy number gain |
not provided [RCV000684700] |
Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44 |
pathogenic |
| GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 |
copy number gain |
not provided [RCV000684707] |
Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44 |
pathogenic |
| NM_007357.3(COG2):c.1934+3A>G |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000694384] |
Chr1:230690156 [GRCh38]
Chr1:230825902 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.2026G>A (p.Ala676Thr) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000703358]|not specified [RCV004026627] |
Chr1:230691475 [GRCh38]
Chr1:230827221 [GRCh37]
Chr1:1q42.2 |
likely benign|uncertain significance |
| NM_007357.3(COG2):c.436dup (p.Ile146fs) |
duplication |
Congenital disorder of glycosylation, type IIq [RCV000689452] |
Chr1:230664532..230664533 [GRCh38]
Chr1:230800278..230800279 [GRCh37]
Chr1:1q42.2 |
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 |
| NM_007357.3(COG2):c.1229-253G>A |
single nucleotide variant |
not provided [RCV001645740] |
Chr1:230684832 [GRCh38]
Chr1:230820578 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.301-12dup |
duplication |
not provided [RCV001667099] |
Chr1:230663118..230663119 [GRCh38]
Chr1:230798864..230798865 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.567C>T (p.Gly189=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000960627]|not provided [RCV004714162] |
Chr1:230668757 [GRCh38]
Chr1:230804503 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1228+110dup |
duplication |
not provided [RCV001535258] |
Chr1:230683733..230683734 [GRCh38]
Chr1:230819479..230819480 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1380+80T>C |
single nucleotide variant |
not provided [RCV001669388] |
Chr1:230685316 [GRCh38]
Chr1:230821062 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1794+273G>C |
single nucleotide variant |
not provided [RCV001649227] |
Chr1:230688835 [GRCh38]
Chr1:230824581 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1066C>T (p.Arg356Trp) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001244953]|not provided [RCV000994280]|not specified [RCV004030170] |
Chr1:230678952 [GRCh38]
Chr1:230814698 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| 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_007357.3(COG2):c.1651+58C>A |
single nucleotide variant |
not provided [RCV001681042] |
Chr1:230688201 [GRCh38]
Chr1:230823947 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1381-10C>T |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000882326] |
Chr1:230686925 [GRCh38]
Chr1:230822671 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.2034C>T (p.Pro678=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001505861] |
Chr1:230691483 [GRCh38]
Chr1:230827229 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.2116-10G>A |
single nucleotide variant |
not provided [RCV000925005] |
Chr1:230693282 [GRCh38]
Chr1:230829028 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.846T>C (p.Phe282=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002068646] |
Chr1:230671587 [GRCh38]
Chr1:230807333 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.183C>T (p.Val61=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000881037]|not provided [RCV003413707] |
Chr1:230659574 [GRCh38]
Chr1:230795320 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1755C>T (p.Ser585=) |
single nucleotide variant |
COG2-related disorder [RCV003910458]|Congenital disorder of glycosylation, type IIq [RCV000884944] |
Chr1:230688523 [GRCh38]
Chr1:230824269 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1143C>T (p.Asn381=) |
single nucleotide variant |
not provided [RCV000906779] |
Chr1:230679029 [GRCh38]
Chr1:230814775 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.774+9A>G |
single nucleotide variant |
not provided [RCV000928574] |
Chr1:230669544 [GRCh38]
Chr1:230805290 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.132A>G (p.Glu44=) |
single nucleotide variant |
not provided [RCV000926762] |
Chr1:230659523 [GRCh38]
Chr1:230795269 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.301-10T>G |
single nucleotide variant |
not provided [RCV000892823] |
Chr1:230663131 [GRCh38]
Chr1:230798877 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.73-10T>C |
single nucleotide variant |
not provided [RCV000898231] |
Chr1:230659454 [GRCh38]
Chr1:230795200 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.654C>A (p.Gly218=) |
single nucleotide variant |
not provided [RCV000922272] |
Chr1:230669415 [GRCh38]
Chr1:230805161 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.2166C>T (p.Leu722=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000968832] |
Chr1:230693342 [GRCh38]
Chr1:230829088 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.301-9C>T |
single nucleotide variant |
not provided [RCV000949662] |
Chr1:230663132 [GRCh38]
Chr1:230798878 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.485+8T>A |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000966441] |
Chr1:230664595 [GRCh38]
Chr1:230800341 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1026+10C>T |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000901244] |
Chr1:230675134 [GRCh38]
Chr1:230810880 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1957G>A (p.Val653Ile) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001439027]|not provided [RCV004711391] |
Chr1:230691406 [GRCh38]
Chr1:230827152 [GRCh37]
Chr1:1q42.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_007357.3(COG2):c.1532C>G (p.Thr511Ser) |
single nucleotide variant |
COG2-related disorder [RCV003970819]|Congenital disorder of glycosylation, type IIq [RCV000960495]|not provided [RCV004711459] |
Chr1:230687086 [GRCh38]
Chr1:230822832 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.772G>A (p.Glu258Lys) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000806315] |
Chr1:230669533 [GRCh38]
Chr1:230805279 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1299G>A (p.Glu433=) |
single nucleotide variant |
not provided [RCV000925540] |
Chr1:230685155 [GRCh38]
Chr1:230820901 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.990G>A (p.Ser330=) |
single nucleotide variant |
not provided [RCV000973911] |
Chr1:230675088 [GRCh38]
Chr1:230810834 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1911C>T (p.Gly637=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002065639] |
Chr1:230690130 [GRCh38]
Chr1:230825876 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.708G>A (p.Thr236=) |
single nucleotide variant |
COG2-related disorder [RCV004758104]|Congenital disorder of glycosylation, type IIq [RCV000954227]|not provided [RCV001766797] |
Chr1:230669469 [GRCh38]
Chr1:230805215 [GRCh37]
Chr1:1q42.2 |
benign|likely benign |
| NM_007357.3(COG2):c.473T>A (p.Leu158Gln) |
single nucleotide variant |
not specified [RCV004313053] |
Chr1:230664575 [GRCh38]
Chr1:230800321 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.264T>G (p.Leu88=) |
single nucleotide variant |
COG2-related disorder [RCV003928301]|Congenital disorder of glycosylation, type IIq [RCV001510159]|not provided [RCV000831388] |
Chr1:230660787 [GRCh38]
Chr1:230796533 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1387C>T (p.Leu463Phe) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000812494] |
Chr1:230686941 [GRCh38]
Chr1:230822687 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.2037C>T (p.Val679=) |
single nucleotide variant |
not provided [RCV000915747] |
Chr1:230691486 [GRCh38]
Chr1:230827232 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1189T>C (p.Leu397=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002540118] |
Chr1:230683596 [GRCh38]
Chr1:230819342 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.2065G>T (p.Asp689Tyr) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000792550] |
Chr1:230691514 [GRCh38]
Chr1:230827260 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3 |
copy number gain |
not provided [RCV001005187] |
Chr1:228832737..240993877 [GRCh37]
Chr1:1q42.13-43 |
pathogenic |
| NM_007357.3(COG2):c.151C>T (p.Leu51Phe) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001964034] |
Chr1:230659542 [GRCh38]
Chr1:230795288 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1825G>A (p.Asp609Asn) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001071427]|not provided [RCV000994281] |
Chr1:230690044 [GRCh38]
Chr1:230825790 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| 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_007357.3(COG2):c.1709A>G (p.Lys570Arg) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001202815] |
Chr1:230688477 [GRCh38]
Chr1:230824223 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 |
copy number gain |
not provided [RCV001005175] |
Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43 |
pathogenic |
| NM_007357.3(COG2):c.234+270A>G |
single nucleotide variant |
not provided [RCV001684189] |
Chr1:230659895 [GRCh38]
Chr1:230795641 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.382-235dup |
duplication |
not provided [RCV001667044] |
Chr1:230664238..230664239 [GRCh38]
Chr1:230799984..230799985 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.2116-273G>T |
single nucleotide variant |
not provided [RCV001667204] |
Chr1:230693019 [GRCh38]
Chr1:230828765 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.2116-165A>G |
single nucleotide variant |
not provided [RCV001639753] |
Chr1:230693127 [GRCh38]
Chr1:230828873 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.-104del |
deletion |
not provided [RCV001620851] |
Chr1:230642498 [GRCh38]
Chr1:230778244 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1089T>C (p.Ser363=) |
single nucleotide variant |
not provided [RCV001532576] |
Chr1:230678975 [GRCh38]
Chr1:230814721 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.381+4T>C |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000907056] |
Chr1:230663225 [GRCh38]
Chr1:230798971 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.2110G>A (p.Glu704Lys) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000929763] |
Chr1:230691559 [GRCh38]
Chr1:230827305 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.405A>G (p.Gln135=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001476025] |
Chr1:230664507 [GRCh38]
Chr1:230800253 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.218A>G (p.Asn73Ser) |
single nucleotide variant |
COG2-related disorder [RCV003957960]|Congenital disorder of glycosylation, type IIq [RCV000891976] |
Chr1:230659609 [GRCh38]
Chr1:230795355 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.402A>G (p.Ile134Met) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002065518] |
Chr1:230664504 [GRCh38]
Chr1:230800250 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1528C>T (p.Arg510Cys) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000886776] |
Chr1:230687082 [GRCh38]
Chr1:230822828 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.2061C>T (p.Asp687=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000887583]|not provided [RCV003413712] |
Chr1:230691510 [GRCh38]
Chr1:230827256 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.435A>G (p.Lys145=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000923873] |
Chr1:230664537 [GRCh38]
Chr1:230800283 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.381+8C>T |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000892786] |
Chr1:230663229 [GRCh38]
Chr1:230798975 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.627G>A (p.Gln209=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000887021]|not provided [RCV004711371] |
Chr1:230669388 [GRCh38]
Chr1:230805134 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1239G>A (p.Pro413=) |
single nucleotide variant |
not provided [RCV000916736] |
Chr1:230685095 [GRCh38]
Chr1:230820841 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1765G>A (p.Val589Ile) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV000955891]|not provided [RCV001638021] |
Chr1:230688533 [GRCh38]
Chr1:230824279 [GRCh37]
Chr1:1q42.2 |
benign|likely benign |
| NM_007357.3(COG2):c.2139A>C (p.Ala713=) |
single nucleotide variant |
not provided [RCV000890472] |
Chr1:230693315 [GRCh38]
Chr1:230829061 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.482G>A (p.Ser161Asn) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002681181] |
Chr1:230664584 [GRCh38]
Chr1:230800330 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.595-280A>C |
single nucleotide variant |
not provided [RCV001677771] |
Chr1:230669076 [GRCh38]
Chr1:230804822 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.73-33T>C |
single nucleotide variant |
not provided [RCV001709766] |
Chr1:230659431 [GRCh38]
Chr1:230795177 [GRCh37]
Chr1:1q42.2 |
benign |
| GRCh37/hg19 1q42.13-42.2(chr1:230616084-231410027)x3 |
copy number gain |
not provided [RCV001005189] |
Chr1:230616084..231410027 [GRCh37]
Chr1:1q42.13-42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1794+319G>A |
single nucleotide variant |
not provided [RCV001608549] |
Chr1:230688881 [GRCh38]
Chr1:230824627 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1578+25C>T |
single nucleotide variant |
not provided [RCV001677304] |
Chr1:230687157 [GRCh38]
Chr1:230822903 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1381-74G>A |
single nucleotide variant |
not provided [RCV001597455] |
Chr1:230686861 [GRCh38]
Chr1:230822607 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1167-145del |
deletion |
not provided [RCV001637421] |
Chr1:230683410 [GRCh38]
Chr1:230819156 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1578+162C>T |
single nucleotide variant |
not provided [RCV001656446] |
Chr1:230687294 [GRCh38]
Chr1:230823040 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1229-201G>A |
single nucleotide variant |
not provided [RCV001676620] |
Chr1:230684884 [GRCh38]
Chr1:230820630 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1229-226G>T |
single nucleotide variant |
not provided [RCV001698727] |
Chr1:230684859 [GRCh38]
Chr1:230820605 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1795-260C>T |
single nucleotide variant |
not provided [RCV001686811] |
Chr1:230689754 [GRCh38]
Chr1:230825500 [GRCh37]
Chr1:1q42.2 |
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 |
| NM_007357.3(COG2):c.235-264C>T |
single nucleotide variant |
not provided [RCV001644494] |
Chr1:230660494 [GRCh38]
Chr1:230796240 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1795-313T>C |
single nucleotide variant |
not provided [RCV001670354] |
Chr1:230689701 [GRCh38]
Chr1:230825447 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.235-129A>C |
single nucleotide variant |
not provided [RCV001648173] |
Chr1:230660629 [GRCh38]
Chr1:230796375 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.72+67G>C |
single nucleotide variant |
not provided [RCV001641775] |
Chr1:230642745 [GRCh38]
Chr1:230778491 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1934+43A>G |
single nucleotide variant |
not provided [RCV001695784] |
Chr1:230690196 [GRCh38]
Chr1:230825942 [GRCh37]
Chr1:1q42.2 |
benign |
| 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_007357.3(COG2):c.2116-278A>G |
single nucleotide variant |
not provided [RCV001725363] |
Chr1:230693014 [GRCh38]
Chr1:230828760 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.594+243C>T |
single nucleotide variant |
not provided [RCV001666442] |
Chr1:230669027 [GRCh38]
Chr1:230804773 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1229-47del |
deletion |
not provided [RCV001725418] |
Chr1:230685035 [GRCh38]
Chr1:230820781 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1167-146_1167-145del |
deletion |
not provided [RCV001691864] |
Chr1:230683410..230683411 [GRCh38]
Chr1:230819156..230819157 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1622T>C (p.Ile541Thr) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001235014] |
Chr1:230688114 [GRCh38]
Chr1:230823860 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.936G>A (p.Leu312=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001210949] |
Chr1:230675034 [GRCh38]
Chr1:230810780 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.2046T>A (p.Ser682Arg) |
single nucleotide variant |
not specified [RCV004607862] |
Chr1:230691495 [GRCh38]
Chr1:230827241 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.862C>T (p.Arg288Cys) |
single nucleotide variant |
not specified [RCV004607863] |
Chr1:230671603 [GRCh38]
Chr1:230807349 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| 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_007357.3(COG2):c.1529G>T (p.Arg510Leu) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001331720]|not provided [RCV004691419]|not specified [RCV004609771] |
Chr1:230687083 [GRCh38]
Chr1:230822829 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1358G>A (p.Arg453Gln) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001344650] |
Chr1:230685214 [GRCh38]
Chr1:230820960 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1601T>A (p.Ile534Asn) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001307241]|not specified [RCV004034118] |
Chr1:230688093 [GRCh38]
Chr1:230823839 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1765G>C (p.Val589Leu) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001321244] |
Chr1:230688533 [GRCh38]
Chr1:230824279 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.116G>A (p.Arg39Gln) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001331719] |
Chr1:230659507 [GRCh38]
Chr1:230795253 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1015G>C (p.Ala339Pro) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001309630] |
Chr1:230675113 [GRCh38]
Chr1:230810859 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1284G>T (p.Arg428Ser) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001316622] |
Chr1:230685140 [GRCh38]
Chr1:230820886 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1182G>A (p.Ala394=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001459095] |
Chr1:230683589 [GRCh38]
Chr1:230819335 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.36G>A (p.Pro12=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001474851] |
Chr1:230642642 [GRCh38]
Chr1:230778388 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1407A>G (p.Glu469=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001444743] |
Chr1:230686961 [GRCh38]
Chr1:230822707 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.2116-51C>A |
single nucleotide variant |
not provided [RCV001534118] |
Chr1:230693241 [GRCh38]
Chr1:230828987 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.900-199C>A |
single nucleotide variant |
not provided [RCV001610223] |
Chr1:230674799 [GRCh38]
Chr1:230810545 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1579-24A>G |
single nucleotide variant |
not provided [RCV001709018] |
Chr1:230688047 [GRCh38]
Chr1:230823793 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1027-228A>G |
single nucleotide variant |
not provided [RCV001686404] |
Chr1:230678685 [GRCh38]
Chr1:230814431 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1795-115G>A |
single nucleotide variant |
not provided [RCV001617215] |
Chr1:230689899 [GRCh38]
Chr1:230825645 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1795-333T>G |
single nucleotide variant |
not provided [RCV001695684] |
Chr1:230689681 [GRCh38]
Chr1:230825427 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.235-178A>G |
single nucleotide variant |
not provided [RCV001611625] |
Chr1:230660580 [GRCh38]
Chr1:230660580..230660581 [GRCh38]
Chr1:230796326 [GRCh37]
Chr1:230796326..230796327 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1036A>G (p.Ile346Val) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001512408]|not provided [RCV001673081] |
Chr1:230678922 [GRCh38]
Chr1:230814668 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1381-210C>A |
single nucleotide variant |
not provided [RCV001654741] |
Chr1:230686725 [GRCh38]
Chr1:230822471 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1229-66_1229-62dup |
duplication |
not provided [RCV001619217] |
Chr1:230685017..230685018 [GRCh38]
Chr1:230820763..230820764 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.2217A>G (p.Ter739=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001510956]|not provided [RCV001598688] |
Chr1:230693393 [GRCh38]
Chr1:230829139 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.301-79G>A |
single nucleotide variant |
not provided [RCV001753211] |
Chr1:230663062 [GRCh38]
Chr1:230798808 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.2115+277A>G |
single nucleotide variant |
not provided [RCV001752879] |
Chr1:230691841 [GRCh38]
Chr1:230827587 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1124G>A (p.Ser375Asn) |
single nucleotide variant |
not specified [RCV004607864] |
Chr1:230679010 [GRCh38]
Chr1:230814756 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.115C>T (p.Arg39Trp) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001928389]|not specified [RCV004043412] |
Chr1:230659506 [GRCh38]
Chr1:230795252 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538) |
copy number loss |
not specified [RCV002052889] |
Chr1:228214912..231483538 [GRCh37]
Chr1:1q42.13-42.2 |
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 |
| NM_007357.3(COG2):c.1133A>G (p.Lys378Arg) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001916633] |
Chr1:230679019 [GRCh38]
Chr1:230814765 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.109A>G (p.Arg37Gly) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001963530] |
Chr1:230659500 [GRCh38]
Chr1:230795246 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NC_000001.10:g.(?_229567246)_(232172577_?)dup |
duplication |
Actin accumulation myopathy [RCV003120751]|not provided [RCV001943051] |
Chr1:229567246..232172577 [GRCh37]
Chr1:1q42.13-42.2 |
uncertain significance|no classifications from unflagged records |
| NM_007357.3(COG2):c.412C>T (p.Arg138Trp) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002049370] |
Chr1:230664514 [GRCh38]
Chr1:230800260 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1067G>A (p.Arg356Gln) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002051228] |
Chr1:230678953 [GRCh38]
Chr1:230814699 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.504A>C (p.Gln168His) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001881425] |
Chr1:230668694 [GRCh38]
Chr1:230804440 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1565A>G (p.Lys522Arg) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001917869] |
Chr1:230687119 [GRCh38]
Chr1:230822865 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.722G>A (p.Arg241Gln) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001934496] |
Chr1:230669483 [GRCh38]
Chr1:230805229 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.860G>A (p.Cys287Tyr) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001951901] |
Chr1:230671601 [GRCh38]
Chr1:230807347 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1467A>G (p.Gln489=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV001991619] |
Chr1:230687021 [GRCh38]
Chr1:230822767 [GRCh37]
Chr1:1q42.2 |
likely benign|uncertain significance |
| NM_007357.3(COG2):c.2115+14C>T |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002207201] |
Chr1:230691578 [GRCh38]
Chr1:230827324 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1965C>T (p.Asn655=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002172668] |
Chr1:230691414 [GRCh38]
Chr1:230827160 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1026+11G>A |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002150957] |
Chr1:230675135 [GRCh38]
Chr1:230810881 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.489C>T (p.Pro163=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002083081] |
Chr1:230668679 [GRCh38]
Chr1:230804425 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.900-19A>T |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002099953] |
Chr1:230674979 [GRCh38]
Chr1:230810725 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.2115+7C>T |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002218363] |
Chr1:230691571 [GRCh38]
Chr1:230827317 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.73-19C>T |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002098421] |
Chr1:230659445 [GRCh38]
Chr1:230795191 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.899+15C>G |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002140426] |
Chr1:230671655 [GRCh38]
Chr1:230807401 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1107C>T (p.Ala369=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002123240] |
Chr1:230678993 [GRCh38]
Chr1:230814739 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1740C>T (p.Phe580=) |
single nucleotide variant |
COG2-related disorder [RCV003950930]|Congenital disorder of glycosylation, type IIq [RCV002202300] |
Chr1:230688508 [GRCh38]
Chr1:230824254 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1392G>A (p.Arg464=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002101488] |
Chr1:230686946 [GRCh38]
Chr1:230822692 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NC_000001.10:g.(?_230203028)_(231413288_?)del |
deletion |
Congenital disorder of glycosylation, type IIq [RCV003109448]|not provided [RCV003113491] |
Chr1:230203028..231413288 [GRCh37]
Chr1:1q42.13-42.2 |
pathogenic|no classifications from unflagged records |
| NC_000001.10:g.(?_229567246)_(231413288_?)del |
deletion |
not provided [RCV003116710] |
Chr1:229567246..231413288 [GRCh37]
Chr1:1q42.13-42.2 |
pathogenic |
| NM_007357.3(COG2):c.615C>T (p.Ala205=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003117893] |
Chr1:230669376 [GRCh38]
Chr1:230805122 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.48C>A (p.Cys16Ter) |
single nucleotide variant |
See cases [RCV002252592] |
Chr1:230642654 [GRCh38]
Chr1:230778400 [GRCh37]
Chr1:1q42.2 |
likely pathogenic |
| NM_007357.3(COG2):c.2116-59T>C |
single nucleotide variant |
not provided [RCV002286182] |
Chr1:230693233 [GRCh38]
Chr1:230828979 [GRCh37]
Chr1:1q42.2 |
likely benign |
| GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 |
copy number gain |
See cases [RCV002287837] |
Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44 |
pathogenic |
| GRCh37/hg19 1q42.2(chr1:230745415-230835071)x1 |
copy number loss |
not provided [RCV002475698] |
Chr1:230745415..230835071 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1182G>C (p.Ala394=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002617026] |
Chr1:230683589 [GRCh38]
Chr1:230819335 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.872G>A (p.Arg291Gln) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002948215] |
Chr1:230671613 [GRCh38]
Chr1:230807359 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3 |
copy number gain |
not provided [RCV002475638] |
Chr1:227992928..236659905 [GRCh37]
Chr1:1q42.13-43 |
likely pathogenic |
| GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 |
copy number gain |
not provided [RCV002475745] |
Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44 |
pathogenic |
| NM_007357.3(COG2):c.260del (p.Gln87fs) |
deletion |
Congenital disorder of glycosylation, type IIq [RCV002730453] |
Chr1:230660783 [GRCh38]
Chr1:230796529 [GRCh37]
Chr1:1q42.2 |
pathogenic |
| NM_007357.3(COG2):c.843G>A (p.Glu281=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002843403] |
Chr1:230671584 [GRCh38]
Chr1:230807330 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.2159C>T (p.Ser720Leu) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002995399] |
Chr1:230693335 [GRCh38]
Chr1:230829081 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.2115+18G>A |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002953603] |
Chr1:230691582 [GRCh38]
Chr1:230827328 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.695G>T (p.Arg232Leu) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002620771] |
Chr1:230669456 [GRCh38]
Chr1:230805202 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.809A>G (p.Asn270Ser) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003591994]|not specified [RCV004213790] |
Chr1:230671550 [GRCh38]
Chr1:230807296 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1246C>T (p.Leu416Phe) |
single nucleotide variant |
not specified [RCV004167170] |
Chr1:230685102 [GRCh38]
Chr1:230820848 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.235-8del |
deletion |
Congenital disorder of glycosylation, type IIq [RCV002781434] |
Chr1:230660750 [GRCh38]
Chr1:230796496 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.2139_2142del (p.Ser714fs) |
deletion |
Congenital disorder of glycosylation, type IIq [RCV003077229] |
Chr1:230693315..230693318 [GRCh38]
Chr1:230829061..230829064 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.989C>T (p.Ser330Leu) |
single nucleotide variant |
not specified [RCV004117462] |
Chr1:230675087 [GRCh38]
Chr1:230810833 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.373A>G (p.Lys125Glu) |
single nucleotide variant |
not specified [RCV004224510] |
Chr1:230663213 [GRCh38]
Chr1:230798959 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1805C>T (p.Thr602Ile) |
single nucleotide variant |
not specified [RCV004181500] |
Chr1:230690024 [GRCh38]
Chr1:230825770 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1412C>T (p.Pro471Leu) |
single nucleotide variant |
not specified [RCV004118744] |
Chr1:230686966 [GRCh38]
Chr1:230822712 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.566G>C (p.Gly189Ala) |
single nucleotide variant |
not specified [RCV004086486] |
Chr1:230668756 [GRCh38]
Chr1:230804502 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.485+19A>G |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003077141] |
Chr1:230664606 [GRCh38]
Chr1:230800352 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.174A>G (p.Thr58=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002623792] |
Chr1:230659565 [GRCh38]
Chr1:230795311 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.184G>A (p.Glu62Lys) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002928695]|not specified [RCV004068003] |
Chr1:230659575 [GRCh38]
Chr1:230795321 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1301T>C (p.Met434Thr) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002701158] |
Chr1:230685157 [GRCh38]
Chr1:230820903 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1741G>T (p.Gly581Cys) |
single nucleotide variant |
not specified [RCV004087106] |
Chr1:230688509 [GRCh38]
Chr1:230824255 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1012G>A (p.Asp338Asn) |
single nucleotide variant |
not specified [RCV004206337] |
Chr1:230675110 [GRCh38]
Chr1:230810856 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1948G>A (p.Val650Met) |
single nucleotide variant |
not specified [RCV004168090] |
Chr1:230691397 [GRCh38]
Chr1:230827143 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1949T>C (p.Val650Ala) |
single nucleotide variant |
not specified [RCV004107303] |
Chr1:230691398 [GRCh38]
Chr1:230827144 [GRCh37]
Chr1:1q42.2 |
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_007357.3(COG2):c.488C>G (p.Pro163Arg) |
single nucleotide variant |
not specified [RCV004081562] |
Chr1:230668678 [GRCh38]
Chr1:230804424 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.2189A>G (p.Lys730Arg) |
single nucleotide variant |
not specified [RCV004090533] |
Chr1:230693365 [GRCh38]
Chr1:230829111 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.42G>A (p.Thr14=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003091439] |
Chr1:230642648 [GRCh38]
Chr1:230778394 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1167-19C>A |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002857704] |
Chr1:230683555 [GRCh38]
Chr1:230819301 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.413G>A (p.Arg138Gln) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003064892] |
Chr1:230664515 [GRCh38]
Chr1:230800261 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.81C>T (p.Phe27=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003062931] |
Chr1:230659472 [GRCh38]
Chr1:230795218 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.601G>A (p.Ala201Thr) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003030547] |
Chr1:230669362 [GRCh38]
Chr1:230805108 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1578+11G>C |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002598030] |
Chr1:230687143 [GRCh38]
Chr1:230822889 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.2161G>A (p.Ala721Thr) |
single nucleotide variant |
not specified [RCV004098609] |
Chr1:230693337 [GRCh38]
Chr1:230829083 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.670G>A (p.Val224Ile) |
single nucleotide variant |
not specified [RCV004087558] |
Chr1:230669431 [GRCh38]
Chr1:230805177 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1329G>A (p.Leu443=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003049704] |
Chr1:230685185 [GRCh38]
Chr1:230820931 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.479C>T (p.Ala160Val) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003070083]|not specified [RCV004071973] |
Chr1:230664581 [GRCh38]
Chr1:230800327 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.312G>A (p.Ser104=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003052674] |
Chr1:230663152 [GRCh38]
Chr1:230798898 [GRCh37]
Chr1:1q42.2 |
benign |
| NM_007357.3(COG2):c.1977G>A (p.Lys659=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003071970] |
Chr1:230691426 [GRCh38]
Chr1:230827172 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1040G>A (p.Ser347Asn) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV002611702] |
Chr1:230678926 [GRCh38]
Chr1:230814672 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1231G>C (p.Glu411Gln) |
single nucleotide variant |
not specified [RCV004276090] |
Chr1:230685087 [GRCh38]
Chr1:230820833 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.2032C>T (p.Pro678Ser) |
single nucleotide variant |
not specified [RCV004274803] |
Chr1:230691481 [GRCh38]
Chr1:230827227 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1 |
copy number loss |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV003327728] |
Chr1:230178121..243646135 [GRCh38]
Chr1:1q42.13-44 |
pathogenic |
| NM_007357.3(COG2):c.2176G>A (p.Val726Ile) |
single nucleotide variant |
not specified [RCV004336263] |
Chr1:230693352 [GRCh38]
Chr1:230829098 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.2053A>G (p.Met685Val) |
single nucleotide variant |
not specified [RCV004364063] |
Chr1:230691502 [GRCh38]
Chr1:230827248 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 |
copy number gain |
not provided [RCV003484052] |
Chr1:229373250..249206595 [GRCh37]
Chr1:1q42.13-44 |
pathogenic |
| GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1 |
copy number loss |
not provided [RCV003484077] |
Chr1:230231959..238032346 [GRCh37]
Chr1:1q42.13-43 |
pathogenic |
| GRCh37/hg19 1q42.2(chr1:230736222-230835071)x1 |
copy number loss |
not provided [RCV003484088] |
Chr1:230736222..230835071 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1026+14C>T |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003592402] |
Chr1:230675138 [GRCh38]
Chr1:230810884 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1480G>A (p.Asp494Asn) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003757327] |
Chr1:230687034 [GRCh38]
Chr1:230822780 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1002T>C (p.Pro334=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003757144] |
Chr1:230675100 [GRCh38]
Chr1:230810846 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1935-3A>G |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003757949] |
Chr1:230691381 [GRCh38]
Chr1:230827127 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.987C>G (p.Pro329=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003756970] |
Chr1:230675085 [GRCh38]
Chr1:230810831 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1166+19G>A |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003844527] |
Chr1:230679071 [GRCh38]
Chr1:230814817 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1800C>G (p.Val600=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003757832] |
Chr1:230690019 [GRCh38]
Chr1:230825765 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.300+11C>T |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003756917] |
Chr1:230660834 [GRCh38]
Chr1:230796580 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.900-20T>C |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003757135] |
Chr1:230674978 [GRCh38]
Chr1:230810724 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.189C>T (p.Leu63=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003757674] |
Chr1:230659580 [GRCh38]
Chr1:230795326 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.145C>T (p.Leu49=) |
single nucleotide variant |
Congenital disorder of glycosylation, type IIq [RCV003757713] |
Chr1:230659536 [GRCh38]
Chr1:230795282 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.1700T>C (p.Leu567Ser) |
single nucleotide variant |
not specified [RCV004444436] |
Chr1:230688468 [GRCh38]
Chr1:230824214 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1376A>G (p.Asn459Ser) |
single nucleotide variant |
not specified [RCV004444433] |
Chr1:230685232 [GRCh38]
Chr1:230820978 [GRCh37]
Chr1:1q42.2 |
likely benign |
| NM_007357.3(COG2):c.2200A>G (p.Thr734Ala) |
single nucleotide variant |
not specified [RCV004444437] |
Chr1:230693376 [GRCh38]
Chr1:230829122 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.85G>A (p.Val29Ile) |
single nucleotide variant |
not specified [RCV004444438] |
Chr1:230659476 [GRCh38]
Chr1:230795222 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NM_007357.3(COG2):c.1594G>A (p.Glu532Lys) |
single nucleotide variant |
not specified [RCV004444435] |
Chr1:230688086 [GRCh38]
Chr1:230823832 [GRCh37]
Chr1:1q42.2 |
uncertain significance |
| NC_000001.10:g.(230814799_230819319)_(230820983_230822680)del |
deletion |
Congenital disorder of glycosylation, type IIq [RCV004587956] |
Chr1:230819319..230820983 [GRCh37]
Chr1:1q42.2 |
pathogenic |
