| NM_001379500.1(COL18A1):c.3837G>A (p.Ser1279=) |
single nucleotide variant |
not provided [RCV001488392]|not specified [RCV000516681] |
Chr21:45512215 [GRCh38]
Chr21:46932129 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=) |
single nucleotide variant |
Glaucoma, primary closed-angle [RCV002496992]|not provided [RCV002060233]|not specified [RCV000517493] |
Chr21:45505380 [GRCh38]
Chr21:46925294 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_001379500.1(COL18A1):c.3406G>A (p.Gly1136Arg) |
single nucleotide variant |
not provided [RCV001516584]|not specified [RCV000516334] |
Chr21:45509512 [GRCh38]
Chr21:46929426 [GRCh37]
Chr21:21q22.3 |
benign|uncertain significance |
| NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His) |
single nucleotide variant |
not provided [RCV001522502]|not specified [RCV000518504] |
Chr21:45510233 [GRCh38]
Chr21:46930147 [GRCh37]
Chr21:21q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001379500.1(COL18A1):c.2782G>A (p.Gly928Arg) |
single nucleotide variant |
Knobloch syndrome [RCV001139523]|not provided [RCV001514518]|not specified [RCV000517971] |
Chr21:45504470 [GRCh38]
Chr21:46924384 [GRCh37]
Chr21:21q22.3 |
benign |
| GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 |
copy number loss |
See cases [RCV000050746] |
Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 |
copy number gain |
See cases [RCV000050445] |
Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 |
copy number loss |
See cases [RCV000051022] |
Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3 |
pathogenic |
| GRCh38/hg38 21q22.3(chr21:45084236-45991858)x3 |
copy number gain |
See cases [RCV000052831] |
Chr21:45084236..45991858 [GRCh38]
Chr21:46504151..47411772 [GRCh37]
Chr21:45328579..46236200 [NCBI36]
Chr21:21q22.3 |
uncertain significance |
| GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] |
Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3 |
pathogenic |
| GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] |
Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3 |
pathogenic |
| GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 |
copy number loss |
See cases [RCV000052839] |
Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3 |
pathogenic |
| GRCh38/hg38 21q22.3(chr21:45085281-46670546)x1 |
copy number loss |
See cases [RCV000052841] |
Chr21:45085281..46670546 [GRCh38]
Chr21:46505196..48090458 [GRCh37]
Chr21:45329624..46914886 [NCBI36]
Chr21:21q22.3 |
pathogenic |
| GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1 |
copy number loss |
See cases [RCV000052842] |
Chr21:45110477..46648012 [GRCh38]
Chr21:46530392..48067924 [GRCh37]
Chr21:45354820..46892352 [NCBI36]
Chr21:21q22.3 |
pathogenic |
| GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1 |
copy number loss |
See cases [RCV000052864] |
Chr21:45138321..46670405 [GRCh38]
Chr21:46558236..48090317 [GRCh37]
Chr21:45382664..46914745 [NCBI36]
Chr21:21q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 |
copy number gain |
See cases [RCV000053042] |
Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 |
copy number gain |
See cases [RCV000053043] |
Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 |
copy number gain |
See cases [RCV000053045] |
Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 |
copy number gain |
See cases [RCV000053065] |
Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 |
copy number gain |
See cases [RCV000053067] |
Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 |
copy number gain |
See cases [RCV000053068] |
Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 |
copy number gain |
See cases [RCV000053069] |
Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 |
copy number gain |
See cases [RCV000053039] |
Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21q22.3(chr21:45471378-46670405)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|See cases [RCV000053073] |
Chr21:45471378..46670405 [GRCh38]
Chr21:46891292..48090317 [GRCh37]
Chr21:45715720..46914745 [NCBI36]
Chr21:21q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 |
copy number gain |
See cases [RCV000053040] |
Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3959_3960insTGCC (p.Cys1321fs) |
insertion |
Knobloch syndrome [RCV000662297] |
Chr21:45512337..45512338 [GRCh38]
Chr21:46932251..46932252 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln) |
single nucleotide variant |
Knobloch syndrome [RCV001333463]|not provided [RCV001452439] |
Chr21:45510107 [GRCh38]
Chr21:46930021 [GRCh37]
Chr21:21q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter) |
single nucleotide variant |
not provided [RCV000171509] |
Chr21:45504431 [GRCh38]
Chr21:46924345 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_001379500.1(COL18A1):c.3763C>T (p.Arg1255Cys) |
single nucleotide variant |
not provided [RCV001494319] |
Chr21:45511180 [GRCh38]
Chr21:46931094 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2823dup (p.Gly942fs) |
duplication |
Knobloch syndrome [RCV000018654]|not provided [RCV001588817] |
Chr21:45504504..45504505 [GRCh38]
Chr21:46924418..46924419 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 |
copy number loss |
See cases [RCV000133675] |
Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3 |
pathogenic |
| NM_194255.4(SLC19A1):c.80A>G (p.His27Arg) |
single nucleotide variant |
Gastrointestinal stromal tumor [RCV000144916]|methotrexate response - Efficacy [RCV001788041]|not provided [RCV002055868] |
Chr21:45537880 [GRCh38]
Chr21:46957794 [GRCh37]
Chr21:21q22.3 |
benign|drug response|uncertain significance |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 |
copy number gain |
See cases [RCV000134727] |
Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 |
copy number gain |
See cases [RCV000134509] |
Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 |
copy number gain |
See cases [RCV000134119] |
Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 |
copy number gain |
See cases [RCV000135310] |
Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3 |
pathogenic |
| GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 |
copy number gain |
See cases [RCV000134972] |
Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 |
copy number gain |
See cases [RCV000134836] |
Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 |
copy number gain |
See cases [RCV000134842] |
Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 |
copy number gain |
See cases [RCV000135448] |
Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 |
copy number gain |
See cases [RCV000136142] |
Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3 |
pathogenic |
| GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 |
copy number loss |
See cases [RCV000136828] |
Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 |
copy number gain |
See cases [RCV000137255] |
Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 |
copy number gain |
See cases [RCV000137337] |
Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 |
copy number loss |
See cases [RCV000137341] |
Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 |
copy number gain |
See cases [RCV000138216] |
Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 |
copy number loss |
See cases [RCV000138096] |
Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3 |
pathogenic |
| GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 |
copy number gain |
See cases [RCV000138164] |
Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.2702TTC[1] (p.Leu902del) |
microsatellite |
Glaucoma, primary closed-angle [RCV002496986]|not provided [RCV000514569]|not specified [RCV001821446] |
Chr21:45504029..45504031 [GRCh38]
Chr21:46923943..46923945 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 |
copy number gain |
See cases [RCV000138436] |
Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 |
copy number loss |
See cases [RCV000139158] |
Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3 |
pathogenic |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 |
copy number gain |
See cases [RCV000140103] |
Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 |
copy number gain |
See cases [RCV000141346] |
Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 |
copy number gain |
See cases [RCV000141827] |
Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3 |
uncertain significance |
| GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 |
copy number loss |
See cases [RCV000142311] |
Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 |
copy number loss |
See cases [RCV000142427] |
Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 |
copy number gain |
See cases [RCV000143120] |
Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 |
copy number loss |
See cases [RCV000142600] |
Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3 |
pathogenic |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 |
copy number gain |
See cases [RCV000143376] |
Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) |
copy number gain |
See cases [RCV000143160] |
Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 |
copy number loss |
See cases [RCV000143335] |
Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 |
copy number gain |
See cases [RCV000148131] |
Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) |
single nucleotide variant |
Knobloch syndrome [RCV000018655]|not provided [RCV000711309]|not specified [RCV000248578] |
Chr21:45511195 [GRCh38]
Chr21:46931109 [GRCh37]
Chr21:21q22.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) |
deletion |
Glaucoma, primary closed-angle [RCV001198207]|Glaucoma, primary closed-angle [RCV002504954]|Knobloch syndrome [RCV000055632]|Macular dystrophy [RCV000504900]|Retinal dystrophy [RCV001074487]|Retinitis pigmentosa [RCV000505165]|not provided [RCV000479282] |
Chr21:45510091..45510092 [GRCh38]
Chr21:46930005..46930006 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 |
copy number loss |
See cases [RCV000449026] |
Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.2964CCCCCCAGG[1] (p.985GPP[3]) |
microsatellite |
Knobloch syndrome [RCV000714628]|not provided [RCV001442641] |
Chr21:45505227..45505235 [GRCh38]
Chr21:46925141..46925149 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| Single allele |
deletion |
Axenfeld-Rieger syndrome type 3 [RCV000677943] |
Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| chr21:45970718..47545826 complex variant |
complex |
Ductal breast carcinoma [RCV000207279] |
Chr21:45970718..47545826 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| Single allele |
duplication |
not provided [RCV000768458] |
Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_001379500.1(COL18A1):c.3673G>A (p.Val1225Met) |
single nucleotide variant |
not provided [RCV000224896]|not specified [RCV001818549] |
Chr21:45510241 [GRCh38]
Chr21:46930155 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_001379500.1(COL18A1):c.3250-13C>T |
single nucleotide variant |
not provided [RCV002166712] |
Chr21:45509343 [GRCh38]
Chr21:46929257 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2979A>C (p.Pro993=) |
single nucleotide variant |
not provided [RCV001513042]|not specified [RCV000516236] |
Chr21:45505244 [GRCh38]
Chr21:46925158 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1 |
copy number loss |
See cases [RCV000239957] |
Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 |
copy number loss |
See cases [RCV000239948] |
Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3810-20C>T |
single nucleotide variant |
not provided [RCV001512591]|not specified [RCV000253362] |
Chr21:45512168 [GRCh38]
Chr21:46932082 [GRCh37]
Chr21:21q22.3 |
benign |
| GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 |
copy number gain |
See cases [RCV000240397] |
Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3495+38C>G |
single nucleotide variant |
not provided [RCV001689920]|not specified [RCV000244405] |
Chr21:45509639 [GRCh38]
Chr21:46929553 [GRCh37]
Chr21:21q22.3 |
benign |
| GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3 |
copy number gain |
See cases [RCV000240574] |
Chr21:46682125..48090317 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_001379500.1(COL18A1):c.2728-8G>A |
single nucleotide variant |
Knobloch syndrome [RCV000323806]|not provided [RCV001511990]|not specified [RCV000242235] |
Chr21:45504408 [GRCh38]
Chr21:46924322 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_001379500.1(COL18A1):c.3528A>G (p.Ser1176=) |
single nucleotide variant |
not provided [RCV001513715]|not specified [RCV000249582] |
Chr21:45510096 [GRCh38]
Chr21:46930010 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.*16G>A |
single nucleotide variant |
Glaucoma, primary closed-angle [RCV001589276]|Knobloch syndrome [RCV000368050]|not provided [RCV001651254]|not specified [RCV000249700] |
Chr21:45512414 [GRCh38]
Chr21:46932328 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=) |
single nucleotide variant |
Knobloch syndrome [RCV000371942]|not provided [RCV001520483]|not specified [RCV000247426] |
Chr21:45504469 [GRCh38]
Chr21:46924383 [GRCh37]
Chr21:21q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001379500.1(COL18A1):c.3087+9_3087+10del |
deletion |
not provided [RCV001511992]|not specified [RCV000252188] |
Chr21:45505439..45505440 [GRCh38]
Chr21:46925353..46925354 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_001379500.1(COL18A1):c.3694-33A>C |
single nucleotide variant |
not provided [RCV001683118]|not specified [RCV000245036] |
Chr21:45511078 [GRCh38]
Chr21:46930992 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_001379500.1(COL18A1):c.3250-15G>A |
single nucleotide variant |
not provided [RCV001513141]|not specified [RCV000247530] |
Chr21:45509341 [GRCh38]
Chr21:46929255 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3231A>G (p.Thr1077=) |
single nucleotide variant |
Knobloch syndrome [RCV000625366]|not provided [RCV000711308]|not specified [RCV000242753] |
Chr21:45507575 [GRCh38]
Chr21:46927489 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3447G>A (p.Ala1149=) |
single nucleotide variant |
Glaucoma, primary closed-angle [RCV001589285]|Knobloch syndrome [RCV000607757]|not provided [RCV001510213]|not specified [RCV000252618] |
Chr21:45509553 [GRCh38]
Chr21:46929467 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3579G>A (p.Ala1193=) |
single nucleotide variant |
not provided [RCV001857852]|not specified [RCV000252725] |
Chr21:45510147 [GRCh38]
Chr21:46930061 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3694-20AC[4] |
microsatellite |
not provided [RCV001538486]|not specified [RCV000248065] |
Chr21:45511090..45511091 [GRCh38]
Chr21:46931004..46931005 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2684-28C>T |
single nucleotide variant |
not specified [RCV000250480] |
Chr21:45503983 [GRCh38]
Chr21:46923897 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3610G>A (p.Ala1204Thr) |
single nucleotide variant |
not provided [RCV001510214]|not specified [RCV000243313] |
Chr21:45510178 [GRCh38]
Chr21:46930092 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_001379500.1(COL18A1):c.3694-32C>A |
single nucleotide variant |
not provided [RCV001636822]|not specified [RCV000253243] |
Chr21:45511079 [GRCh38]
Chr21:46930993 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_001379500.1(COL18A1):c.*484C>T |
single nucleotide variant |
Knobloch syndrome [RCV000299901] |
Chr21:45512882 [GRCh38]
Chr21:46932796 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2823C>A (p.Pro941=) |
single nucleotide variant |
Knobloch syndrome [RCV000292412] |
Chr21:45504511 [GRCh38]
Chr21:46924425 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_001379500.1(COL18A1):c.*30G>A |
single nucleotide variant |
Knobloch syndrome [RCV000275794] |
Chr21:45512428 [GRCh38]
Chr21:46932342 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*498G>A |
single nucleotide variant |
Knobloch syndrome [RCV000356957] |
Chr21:45512896 [GRCh38]
Chr21:46932810 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2693C>T (p.Pro898Leu) |
single nucleotide variant |
Glaucoma, primary closed-angle [RCV002487503]|Knobloch syndrome [RCV000358757]|not provided [RCV001861180] |
Chr21:45504020 [GRCh38]
Chr21:46923934 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*532T>C |
single nucleotide variant |
Knobloch syndrome [RCV000312877] |
Chr21:45512930 [GRCh38]
Chr21:46932844 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_001379500.1(COL18A1):c.*1088C>T |
single nucleotide variant |
Knobloch syndrome [RCV000323857] |
Chr21:45513486 [GRCh38]
Chr21:46933400 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*851C>T |
single nucleotide variant |
Knobloch syndrome [RCV000272401] |
Chr21:45513249 [GRCh38]
Chr21:46933163 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*1148_*1149insCA |
insertion |
Knobloch syndrome [RCV000279292] |
Chr21:45513546..45513547 [GRCh38]
Chr21:46933460..46933461 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2979_2980delinsC (p.Pro996fs) |
indel |
not provided [RCV000311760] |
Chr21:45505244..45505245 [GRCh38]
Chr21:46925158..46925159 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.*852G>C |
single nucleotide variant |
Knobloch syndrome [RCV000320423] |
Chr21:45513250 [GRCh38]
Chr21:46933164 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_001379500.1(COL18A1):c.*1129A>C |
single nucleotide variant |
Knobloch syndrome [RCV000371426] |
Chr21:45513527 [GRCh38]
Chr21:46933441 [GRCh37]
Chr21:21q22.3 |
benign|uncertain significance |
| NM_001379500.1(COL18A1):c.2815G>A (p.Gly939Ser) |
single nucleotide variant |
Knobloch syndrome [RCV000375403]|not provided [RCV001861181] |
Chr21:45504503 [GRCh38]
Chr21:46924417 [GRCh37]
Chr21:21q22.3 |
benign|likely benign|uncertain significance |
| NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His) |
single nucleotide variant |
not provided [RCV000384279] |
Chr21:45504537 [GRCh38]
Chr21:46924451 [GRCh37]
Chr21:21q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001379500.1(COL18A1):c.3787G>A (p.Asp1263Asn) |
single nucleotide variant |
Knobloch syndrome [RCV000262928] |
Chr21:45511204 [GRCh38]
Chr21:46931118 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.*305C>T |
single nucleotide variant |
Knobloch syndrome [RCV000283895] |
Chr21:45512703 [GRCh38]
Chr21:46932617 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*864C>A |
single nucleotide variant |
Knobloch syndrome [RCV000377357] |
Chr21:45513262 [GRCh38]
Chr21:46933176 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*277T>C |
single nucleotide variant |
Knobloch syndrome [RCV000328294] |
Chr21:45512675 [GRCh38]
Chr21:46932589 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_001379500.1(COL18A1):c.*302C>A |
single nucleotide variant |
Knobloch syndrome [RCV000385255] |
Chr21:45512700 [GRCh38]
Chr21:46932614 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_001379500.1(COL18A1):c.*71G>A |
single nucleotide variant |
Knobloch syndrome [RCV000333113]|not provided [RCV001613119] |
Chr21:45512469 [GRCh38]
Chr21:46932383 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.*134G>A |
single nucleotide variant |
Knobloch syndrome [RCV000289670] |
Chr21:45512532 [GRCh38]
Chr21:46932446 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2899C>T (p.Pro967Ser) |
single nucleotide variant |
Knobloch syndrome [RCV000387981] |
Chr21:45505164 [GRCh38]
Chr21:46925078 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*1222C>T |
single nucleotide variant |
Knobloch syndrome [RCV000292656] |
Chr21:45513620 [GRCh38]
Chr21:46933534 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*584C>A |
single nucleotide variant |
Knobloch syndrome [RCV000277713] |
Chr21:45512982 [GRCh38]
Chr21:46932896 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*340G>A |
single nucleotide variant |
Knobloch syndrome [RCV000407365] |
Chr21:45512738 [GRCh38]
Chr21:46932652 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3682G>A (p.Val1228Ile) |
single nucleotide variant |
Knobloch syndrome [RCV000260062]|not provided [RCV001861184] |
Chr21:45510250 [GRCh38]
Chr21:46930164 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_001379500.1(COL18A1):c.2956C>T (p.Pro986Ser) |
single nucleotide variant |
Knobloch syndrome [RCV000296080]|Seizure [RCV001263255] |
Chr21:45505221 [GRCh38]
Chr21:46925135 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3547C>T (p.Arg1183Cys) |
single nucleotide variant |
Knobloch syndrome [RCV000339550]|not provided [RCV001865240]|not specified [RCV001821025] |
Chr21:45510115 [GRCh38]
Chr21:46930029 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*306G>C |
single nucleotide variant |
Knobloch syndrome [RCV000340934] |
Chr21:45512704 [GRCh38]
Chr21:46932618 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_001379500.1(COL18A1):c.*1157C>G |
single nucleotide variant |
Knobloch syndrome [RCV000337088] |
Chr21:45513555 [GRCh38]
Chr21:46933469 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2787C>T (p.Gly929=) |
single nucleotide variant |
Knobloch syndrome [RCV000260819]|not provided [RCV001520484] |
Chr21:45504475 [GRCh38]
Chr21:46924389 [GRCh37]
Chr21:21q22.3 |
benign|likely benign|uncertain significance |
| NM_001379500.1(COL18A1):c.3548G>A (p.Arg1183His) |
single nucleotide variant |
Knobloch syndrome [RCV000404759]|not provided [RCV001861183] |
Chr21:45510116 [GRCh38]
Chr21:46930030 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2694G>A (p.Pro898=) |
single nucleotide variant |
Knobloch syndrome [RCV000266319]|not provided [RCV001514879] |
Chr21:45504021 [GRCh38]
Chr21:46923935 [GRCh37]
Chr21:21q22.3 |
benign|likely benign|uncertain significance |
| NM_001379500.1(COL18A1):c.2832A>C (p.Pro944=) |
single nucleotide variant |
Knobloch syndrome [RCV000349746]|not provided [RCV002057775] |
Chr21:45504529 [GRCh38]
Chr21:46924443 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.*390G>A |
single nucleotide variant |
Knobloch syndrome [RCV000404960] |
Chr21:45512788 [GRCh38]
Chr21:46932702 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2788G>A (p.Gly930Ser) |
single nucleotide variant |
Knobloch syndrome [RCV000318487]|not provided [RCV001865239] |
Chr21:45504476 [GRCh38]
Chr21:46924390 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*849A>T |
single nucleotide variant |
Knobloch syndrome [RCV000364738] |
Chr21:45513247 [GRCh38]
Chr21:46933161 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_001379500.1(COL18A1):c.3620C>T (p.Ser1207Phe) |
single nucleotide variant |
not provided [RCV000489585] |
Chr21:45510188 [GRCh38]
Chr21:46930102 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3847G>T (p.Gly1283Trp) |
single nucleotide variant |
not provided [RCV000489683] |
Chr21:45512225 [GRCh38]
Chr21:46932139 [GRCh37]
Chr21:21q22.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001379500.1(COL18A1):c.3832G>T (p.Gly1278Cys) |
single nucleotide variant |
Knobloch syndrome [RCV000329765] |
Chr21:45512210 [GRCh38]
Chr21:46932124 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3030C>T (p.Gly1010=) |
single nucleotide variant |
Knobloch syndrome [RCV000345438] |
Chr21:45505374 [GRCh38]
Chr21:46925288 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3658G>A (p.Ala1220Thr) |
single nucleotide variant |
Knobloch syndrome [RCV000361790] |
Chr21:45510226 [GRCh38]
Chr21:46930140 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*133T>C |
single nucleotide variant |
Knobloch syndrome [RCV000380734] |
Chr21:45512531 [GRCh38]
Chr21:46932445 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2776G>A (p.Glu926Lys) |
single nucleotide variant |
not provided [RCV000520782] |
Chr21:45504464 [GRCh38]
Chr21:46924378 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3558C>T (p.Asp1186=) |
single nucleotide variant |
Knobloch syndrome [RCV000304636] |
Chr21:45510126 [GRCh38]
Chr21:46930040 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2684-9C>T |
single nucleotide variant |
not provided [RCV001445760]|not specified [RCV000517039] |
Chr21:45504002 [GRCh38]
Chr21:46923916 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_001379500.1(COL18A1):c.*369C>T |
single nucleotide variant |
Knobloch syndrome [RCV000335294] |
Chr21:45512767 [GRCh38]
Chr21:46932681 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*505G>A |
single nucleotide variant |
Knobloch syndrome [RCV000405777] |
Chr21:45512903 [GRCh38]
Chr21:46932817 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*866C>T |
single nucleotide variant |
Knobloch syndrome [RCV000285185] |
Chr21:45513264 [GRCh38]
Chr21:46933178 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*550dup |
duplication |
Knobloch syndrome [RCV000369866] |
Chr21:45512944..45512945 [GRCh38]
Chr21:46932858..46932859 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*1203A>G |
single nucleotide variant |
Knobloch syndrome [RCV000408194] |
Chr21:45513601 [GRCh38]
Chr21:46933515 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*342C>G |
single nucleotide variant |
Knobloch syndrome [RCV000287329] |
Chr21:45512740 [GRCh38]
Chr21:46932654 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3367G>A (p.Ala1123Thr) |
single nucleotide variant |
Knobloch syndrome [RCV000310319]|not provided [RCV001861182] |
Chr21:45509473 [GRCh38]
Chr21:46929387 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3690C>T (p.Leu1230=) |
single nucleotide variant |
Knobloch syndrome [RCV000298918] |
Chr21:45510258 [GRCh38]
Chr21:46930172 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3765C>T (p.Arg1255=) |
single nucleotide variant |
Knobloch syndrome [RCV000356118] |
Chr21:45511182 [GRCh38]
Chr21:46931096 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*638G>A |
single nucleotide variant |
Knobloch syndrome [RCV000325764] |
Chr21:45513036 [GRCh38]
Chr21:46932950 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3240A>G (p.Pro1080=) |
single nucleotide variant |
Knobloch syndrome [RCV000393966] |
Chr21:45507584 [GRCh38]
Chr21:46927498 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2790C>T (p.Gly930=) |
single nucleotide variant |
Knobloch syndrome [RCV001139525]|not provided [RCV001512010]|not specified [RCV000517069] |
Chr21:45504478 [GRCh38]
Chr21:46924392 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_001379500.1(COL18A1):c.3510G>A (p.Ala1170=) |
single nucleotide variant |
not provided [RCV002060234]|not specified [RCV000517278] |
Chr21:45510078 [GRCh38]
Chr21:46929992 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3448C>T (p.Arg1150Ter) |
single nucleotide variant |
Cataract [RCV000415261]|not provided [RCV001865300] |
Chr21:45509554 [GRCh38]
Chr21:46929468 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_001379500.1(COL18A1):c.3028G>A (p.Gly1010Ser) |
single nucleotide variant |
Glaucoma, primary closed-angle [RCV001198208]|Progressive neurodegenerative disease [RCV000415411]|not provided [RCV001865298] |
Chr21:45505372 [GRCh38]
Chr21:46925286 [GRCh37]
Chr21:21q22.3 |
likely pathogenic|uncertain significance |
| NM_001379500.1(COL18A1):c.3413C>T (p.Pro1138Leu) |
single nucleotide variant |
not provided [RCV001850996]|not specified [RCV000412780] |
Chr21:45509519 [GRCh38]
Chr21:46929433 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3039_3047del (p.1011PPG[3]) |
deletion |
not provided [RCV000722738] |
Chr21:45505381..45505389 [GRCh38]
Chr21:46925295..46925303 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3605T>G (p.Phe1202Cys) |
single nucleotide variant |
not provided [RCV000519318] |
Chr21:45510173 [GRCh38]
Chr21:46930087 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q22.3(chr21:46955240-48080867)x1 |
copy number loss |
See cases [RCV000449447] |
Chr21:46955240..48080867 [GRCh37]
Chr21:21q22.3 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 21q22.3(chr21:46682647-47080985)x3 |
copy number gain |
See cases [RCV000449483] |
Chr21:46682647..47080985 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 |
copy number loss |
See cases [RCV000446372] |
Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 |
copy number loss |
See cases [RCV000447618] |
Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| GRCh37/hg19 21q22.3(chr21:45265857-47057233)x1 |
copy number loss |
See cases [RCV000447458] |
Chr21:45265857..47057233 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3352G>A (p.Ala1118Thr) |
single nucleotide variant |
not provided [RCV000418275] |
Chr21:45509458 [GRCh38]
Chr21:46929372 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_030582.4(COL18A1):c.3364_3371del (p.Gly1122fs) |
deletion |
Retinal dystrophy [RCV000504712] |
Chr21:45504521..45504528 [GRCh38]
Chr21:46924435..46924442 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 |
copy number loss |
See cases [RCV000448694] |
Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3 |
pathogenic |
| GRCh37/hg19 21q22.3(chr21:45773272-48097372)x1 |
copy number loss |
See cases [RCV000448877] |
Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 |
copy number gain |
See cases [RCV000447884] |
Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 |
copy number gain |
See cases [RCV000447729] |
Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 |
copy number gain |
See cases [RCV000447749] |
Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.2961_2969dup (p.985GPP[5]) |
duplication |
not specified [RCV000455236] |
Chr21:45505223..45505224 [GRCh38]
Chr21:46925137..46925138 [GRCh37]
Chr21:21q22.3 |
benign |
| GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 |
copy number loss |
See cases [RCV000512071] |
Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 |
copy number loss |
See cases [RCV000510684] |
Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3 |
pathogenic |
| GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 |
copy number loss |
See cases [RCV000511808] |
Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) |
copy number gain |
See cases [RCV000511589] |
Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 |
copy number loss |
See cases [RCV000510798] |
Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.2782G>C (p.Gly928Arg) |
single nucleotide variant |
Knobloch syndrome [RCV001139524]|not provided [RCV001520920]|not specified [RCV000516207] |
Chr21:45504470 [GRCh38]
Chr21:46924384 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2941G>A (p.Glu981Lys) |
single nucleotide variant |
not provided [RCV000514170] |
Chr21:45505206 [GRCh38]
Chr21:46925120 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3]) |
microsatellite |
Knobloch syndrome [RCV000600681]|not provided [RCV001573345]|not specified [RCV001579930] |
Chr21:45504512..45504520 [GRCh38]
Chr21:46924440..46924448 [GRCh37]
Chr21:21q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001379500.1(COL18A1):c.3823G>T (p.Val1275Leu) |
single nucleotide variant |
not provided [RCV000515030] |
Chr21:45512201 [GRCh38]
Chr21:46932115 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_001379500.1(COL18A1):c.3681C>T (p.Ile1227=) |
single nucleotide variant |
Knobloch syndrome [RCV000625367]|not provided [RCV001521474] |
Chr21:45510249 [GRCh38]
Chr21:46930163 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3495+14del |
deletion |
Knobloch syndrome [RCV000614859]|not provided [RCV001513307]|not specified [RCV001579374] |
Chr21:45509609 [GRCh38]
Chr21:46929523 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2684-14TC[2] |
microsatellite |
not provided [RCV000514818] |
Chr21:45503997..45504000 [GRCh38]
Chr21:46923911..46923914 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 |
copy number loss |
not provided [RCV000684165] |
Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3 |
pathogenic |
| GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 |
copy number loss |
not provided [RCV000684163] |
Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3694-65del |
deletion |
not provided [RCV001665207] |
Chr21:45511046 [GRCh38]
Chr21:46930960 [GRCh37]
Chr21:21q22.3 |
benign |
| Single allele |
duplication |
Autism [RCV000754229] |
Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3 |
likely pathogenic |
| GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 |
copy number gain |
not provided [RCV000741419] |
Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh37/hg19 21q22.3(chr21:45821582-47383056)x1 |
copy number loss |
not provided [RCV000741633] |
Chr21:45821582..47383056 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| GRCh37/hg19 21q22.3(chr21:46797389-46958299)x3 |
copy number gain |
not provided [RCV000741638] |
Chr21:46797389..46958299 [GRCh37]
Chr21:21q22.3 |
benign |
| GRCh37/hg19 21q22.3(chr21:46809884-46958299)x3 |
copy number gain |
not provided [RCV000741639] |
Chr21:46809884..46958299 [GRCh37]
Chr21:21q22.3 |
benign |
| GRCh37/hg19 21q22.3(chr21:46929467-46953292)x1 |
copy number loss |
not provided [RCV000741641] |
Chr21:46929467..46953292 [GRCh37]
Chr21:21q22.3 |
benign |
| GRCh37/hg19 21q22.3(chr21:46931684-46975848)x3 |
copy number gain |
not provided [RCV000741642] |
Chr21:46931684..46975848 [GRCh37]
Chr21:21q22.3 |
benign |
| GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 |
copy number gain |
not provided [RCV000741413] |
Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 |
copy number gain |
not provided [RCV000741415] |
Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 |
copy number gain |
not provided [RCV000741418] |
Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.2869-71C>T |
single nucleotide variant |
not provided [RCV001665847] |
Chr21:45505063 [GRCh38]
Chr21:46924977 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3694-229A>G |
single nucleotide variant |
not provided [RCV001649130] |
Chr21:45510882 [GRCh38]
Chr21:46930796 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3088-167C>A |
single nucleotide variant |
not provided [RCV001535385] |
Chr21:45505671 [GRCh38]
Chr21:46925585 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2824_2837= (p.Gly942_Pro946=) |
variation |
Glaucoma, primary closed-angle [RCV001588005]|Knobloch syndrome [RCV001588004] |
Chr21:45504521..45504534 [GRCh38]
Chr21:46924435..46924448 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3809+2T>C |
single nucleotide variant |
Knobloch syndrome [RCV000761287]|not provided [RCV001869040] |
Chr21:45511228 [GRCh38]
Chr21:46931142 [GRCh37]
Chr21:21q22.3 |
pathogenic|uncertain significance |
| NM_001379500.1(COL18A1):c.2978_2987del (p.Pro993fs) |
deletion |
Knobloch syndrome [RCV000761494]|not provided [RCV001855942] |
Chr21:45505236..45505245 [GRCh38]
Chr21:46925150..46925159 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3317G>A (p.Arg1106Gln) |
single nucleotide variant |
Knobloch syndrome [RCV001724767]|not provided [RCV002032667] |
Chr21:45509423 [GRCh38]
Chr21:46929337 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_194255.4(SLC19A1):c.1151+8C>A |
single nucleotide variant |
not provided [RCV000900350] |
Chr21:45530762 [GRCh38]
Chr21:46950676 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_194255.4(SLC19A1):c.1707T>C (p.His569=) |
single nucleotide variant |
not provided [RCV000928046] |
Chr21:45515727 [GRCh38]
Chr21:46935641 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3241C>T (p.Arg1081Ter) |
single nucleotide variant |
Knobloch syndrome [RCV000825517]|not provided [RCV001869266] |
Chr21:45507585 [GRCh38]
Chr21:46927499 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_001379500.1(COL18A1):c.2846= |
variation |
not provided [RCV000948103] |
Chr21:45504534..45504535 [GRCh38]
Chr21:46924448..46924449 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2978_2979insCGGCCCCCC (p.985GPP[5]) |
insertion |
not provided [RCV000948104] |
Chr21:45505235..45505236 [GRCh38]
Chr21:46925149..46925150 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_194255.4(SLC19A1):c.348G>C (p.Val116=) |
single nucleotide variant |
not provided [RCV000948105] |
Chr21:45531990 [GRCh38]
Chr21:46951904 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3022G>A (p.Val1008Ile) |
single nucleotide variant |
not provided [RCV000950294] |
Chr21:45505366 [GRCh38]
Chr21:46925280 [GRCh37]
Chr21:21q22.3 |
likely benign |
| GRCh37/hg19 21q22.3(chr21:46749869-48097372)x1 |
copy number loss |
not provided [RCV001007150] |
Chr21:46749869..48097372 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1 |
copy number loss |
not provided [RCV001007144] |
Chr21:45125672..48097372 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1 |
copy number loss |
not provided [RCV001007146] |
Chr21:45866973..48097372 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3087+1G>T |
single nucleotide variant |
not provided [RCV001043373] |
Chr21:45505432 [GRCh38]
Chr21:46925346 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_001379500.1(COL18A1):c.2780_2781insT (p.Gly928fs) |
insertion |
Knobloch syndrome [RCV000779358] |
Chr21:45504468..45504469 [GRCh38]
Chr21:46924382..46924383 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_194255.4(SLC19A1):c.1200C>T (p.Phe400=) |
single nucleotide variant |
not provided [RCV000904074] |
Chr21:45525910 [GRCh38]
Chr21:46945824 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3429C>T (p.Tyr1143=) |
single nucleotide variant |
not provided [RCV000972561] |
Chr21:45509535 [GRCh38]
Chr21:46929449 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_194255.4(SLC19A1):c.1564G>A (p.Asp522Asn) |
single nucleotide variant |
not provided [RCV000892424] |
Chr21:45515870 [GRCh38]
Chr21:46935784 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_194255.4(SLC19A1):c.795G>A (p.Pro265=) |
single nucleotide variant |
not provided [RCV000939723] |
Chr21:45531543 [GRCh38]
Chr21:46951457 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_194255.4(SLC19A1):c.1012C>T (p.Leu338Phe) |
single nucleotide variant |
not provided [RCV000898711] |
Chr21:45530909 [GRCh38]
Chr21:46950823 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_194255.4(SLC19A1):c.246C>G (p.Pro82=) |
single nucleotide variant |
not provided [RCV000974665] |
Chr21:45532092 [GRCh38]
Chr21:46952006 [GRCh37]
Chr21:21q22.3 |
benign |
| GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 |
copy number gain |
See cases [RCV001007433] |
Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3 |
pathogenic |
| GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1 |
copy number loss |
not provided [RCV000847671] |
Chr21:44310057..47503155 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.2829_2846del (p.938PGP[2]) |
deletion |
Knobloch syndrome [RCV000990362]|not provided [RCV001511991] |
Chr21:45504512..45504529 [GRCh38]
Chr21:46924426..46924443 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_001379500.1(COL18A1):c.3522_3523del (p.Leu1175fs) |
deletion |
Knobloch syndrome [RCV000845112] |
Chr21:45510087..45510088 [GRCh38]
Chr21:46930001..46930002 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3407G>A (p.Gly1136Glu) |
single nucleotide variant |
not provided [RCV000997840] |
Chr21:45509513 [GRCh38]
Chr21:46929427 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3735C>T (p.Gly1245=) |
single nucleotide variant |
not provided [RCV000997841] |
Chr21:45511152 [GRCh38]
Chr21:46931066 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_001379500.1(COL18A1):c.3826_3827del (p.Trp1276fs) |
microsatellite |
Knobloch syndrome [RCV000985046] |
Chr21:45512201..45512202 [GRCh38]
Chr21:46932115..46932116 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_001379500.1(COL18A1):c.*291G>A |
single nucleotide variant |
Knobloch syndrome [RCV001137599] |
Chr21:45512689 [GRCh38]
Chr21:46932603 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*1235T>C |
single nucleotide variant |
Knobloch syndrome [RCV001137714] |
Chr21:45513633 [GRCh38]
Chr21:46933547 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q22.3(chr21:46933276-47155361)x3 |
copy number gain |
not provided [RCV000847779] |
Chr21:46933276..47155361 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q22.3(chr21:46749759-47243074)x3 |
copy number gain |
not provided [RCV000845851] |
Chr21:46749759..47243074 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1 |
copy number loss |
not provided [RCV001007145] |
Chr21:45490774..48097372 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 |
copy number gain |
not provided [RCV000846937] |
Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3833G>T (p.Gly1278Val) |
single nucleotide variant |
Glaucoma, primary closed-angle [RCV001198156] |
Chr21:45512211 [GRCh38]
Chr21:46932125 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2728-121C>A |
single nucleotide variant |
not provided [RCV001686827] |
Chr21:45504295 [GRCh38]
Chr21:46924209 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3216+87C>T |
single nucleotide variant |
not provided [RCV001638733] |
Chr21:45506053 [GRCh38]
Chr21:46925967 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3694-114_3694-101del |
deletion |
not provided [RCV001685943] |
Chr21:45510996..45511009 [GRCh38]
Chr21:46930910..46930923 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3250-186G>A |
single nucleotide variant |
not provided [RCV001720609] |
Chr21:45509170 [GRCh38]
Chr21:46929084 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3495+230G>A |
single nucleotide variant |
not provided [RCV001720610] |
Chr21:45509831 [GRCh38]
Chr21:46929745 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3217-213G>A |
single nucleotide variant |
not provided [RCV001709006] |
Chr21:45507348 [GRCh38]
Chr21:46927262 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3694-159_3694-124del |
deletion |
not provided [RCV001654420] |
Chr21:45510952..45510987 [GRCh38]
Chr21:46930866..46930901 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3216+174T>C |
single nucleotide variant |
not provided [RCV001716440] |
Chr21:45506140 [GRCh38]
Chr21:46926054 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3694-99del |
deletion |
not provided [RCV001654708] |
Chr21:45511003 [GRCh38]
Chr21:46930917 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3495+155C>G |
single nucleotide variant |
not provided [RCV001657030] |
Chr21:45509756 [GRCh38]
Chr21:46929670 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_194255.4(SLC19A1):c.784C>T (p.Leu262=) |
single nucleotide variant |
not provided [RCV000886150] |
Chr21:45531554 [GRCh38]
Chr21:46951468 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2869-213_2869-207dup |
duplication |
not provided [RCV001643774] |
Chr21:45504919..45504920 [GRCh38]
Chr21:46924833..46924834 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.*918C>T |
single nucleotide variant |
Knobloch syndrome [RCV001142463] |
Chr21:45513316 [GRCh38]
Chr21:46933230 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_194255.4(SLC19A1):c.660C>T (p.Cys220=) |
single nucleotide variant |
not provided [RCV000913335] |
Chr21:45531678 [GRCh38]
Chr21:46951592 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_194255.4(SLC19A1):c.166G>C (p.Asp56His) |
single nucleotide variant |
not provided [RCV000889324] |
Chr21:45537794 [GRCh38]
Chr21:46957708 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_194255.4(SLC19A1):c.1242C>A (p.Ile414=) |
single nucleotide variant |
not provided [RCV000958143] |
Chr21:45525868 [GRCh38]
Chr21:46945782 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2869-117G>A |
single nucleotide variant |
not provided [RCV001720585] |
Chr21:45505017 [GRCh38]
Chr21:46924931 [GRCh37]
Chr21:21q22.3 |
benign |
| GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 |
copy number loss |
not provided [RCV001007138] |
Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3495+50C>T |
single nucleotide variant |
not provided [RCV001720606] |
Chr21:45509651 [GRCh38]
Chr21:46929565 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3694-56_3694-55insG |
insertion |
not provided [RCV001621068] |
Chr21:45511055..45511056 [GRCh38]
Chr21:46930969..46930970 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3495+205G>C |
single nucleotide variant |
not provided [RCV001639618] |
Chr21:45509806 [GRCh38]
Chr21:46929720 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2684-51G>A |
single nucleotide variant |
not provided [RCV001660877] |
Chr21:45503960 [GRCh38]
Chr21:46923874 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_194255.4(SLC19A1):c.-43C>T |
single nucleotide variant |
not provided [RCV001595378] |
Chr21:45538002 [GRCh38]
Chr21:46957916 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2890C>T (p.Arg964Trp) |
single nucleotide variant |
not provided [RCV001591966] |
Chr21:45505155 [GRCh38]
Chr21:46925069 [GRCh37]
Chr21:21q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001379500.1(COL18A1):c.3216+213G>A |
single nucleotide variant |
not provided [RCV001620916] |
Chr21:45506179 [GRCh38]
Chr21:46926093 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3216+122C>G |
single nucleotide variant |
not provided [RCV001598473] |
Chr21:45506088 [GRCh38]
Chr21:46926002 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3694-101C>T |
single nucleotide variant |
not provided [RCV001677142] |
Chr21:45511010 [GRCh38]
Chr21:46930924 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.*13T>A |
single nucleotide variant |
Knobloch syndrome [RCV001142340] |
Chr21:45512411 [GRCh38]
Chr21:46932325 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*1062C>T |
single nucleotide variant |
Knobloch syndrome [RCV001142466] |
Chr21:45513460 [GRCh38]
Chr21:46933374 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*1209C>T |
single nucleotide variant |
Knobloch syndrome [RCV001137713] |
Chr21:45513607 [GRCh38]
Chr21:46933521 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*431G>A |
single nucleotide variant |
Knobloch syndrome [RCV001139824] |
Chr21:45512829 [GRCh38]
Chr21:46932743 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*718A>G |
single nucleotide variant |
Knobloch syndrome [RCV001140599] |
Chr21:45513116 [GRCh38]
Chr21:46933030 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*732C>T |
single nucleotide variant |
Knobloch syndrome [RCV001140600] |
Chr21:45513130 [GRCh38]
Chr21:46933044 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*95A>C |
single nucleotide variant |
Knobloch syndrome [RCV001142341] |
Chr21:45512493 [GRCh38]
Chr21:46932407 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*1107C>G |
single nucleotide variant |
Knobloch syndrome [RCV001142467] |
Chr21:45513505 [GRCh38]
Chr21:46933419 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3694-77A>C |
single nucleotide variant |
not provided [RCV001710578] |
Chr21:45511034 [GRCh38]
Chr21:46930948 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3694-70_3694-62del |
deletion |
not provided [RCV001695273] |
Chr21:45511041..45511049 [GRCh38]
Chr21:46930955..46930963 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3694-84dup |
duplication |
not provided [RCV001708416] |
Chr21:45511023..45511024 [GRCh38]
Chr21:46930937..46930938 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3217-202G>A |
single nucleotide variant |
not provided [RCV001693571] |
Chr21:45507359 [GRCh38]
Chr21:46927273 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3217-96_3217-55del |
deletion |
not provided [RCV001681906] |
Chr21:45507457..45507498 [GRCh38]
Chr21:46927371..46927412 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3694-49_3694-47del |
deletion |
not provided [RCV001690514] |
Chr21:45511061..45511063 [GRCh38]
Chr21:46930975..46930977 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3694-230C>T |
single nucleotide variant |
not provided [RCV001671831] |
Chr21:45510881 [GRCh38]
Chr21:46930795 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3694-97C>G |
single nucleotide variant |
not provided [RCV001691720] |
Chr21:45511014 [GRCh38]
Chr21:46930928 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2728-12T>C |
single nucleotide variant |
Knobloch syndrome [RCV001137273] |
Chr21:45504404 [GRCh38]
Chr21:46924318 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2781C>G (p.Pro927=) |
single nucleotide variant |
Knobloch syndrome [RCV001137274] |
Chr21:45504469 [GRCh38]
Chr21:46924383 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*1000C>A |
single nucleotide variant |
Knobloch syndrome [RCV001142465] |
Chr21:45513398 [GRCh38]
Chr21:46933312 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*12A>T |
single nucleotide variant |
Knobloch syndrome [RCV001142339] |
Chr21:45512410 [GRCh38]
Chr21:46932324 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*126C>T |
single nucleotide variant |
Knobloch syndrome [RCV001142342] |
Chr21:45512524 [GRCh38]
Chr21:46932438 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*954C>T |
single nucleotide variant |
Knobloch syndrome [RCV001142464] |
Chr21:45513352 [GRCh38]
Chr21:46933266 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.*6G>A |
single nucleotide variant |
Knobloch syndrome [RCV001140494] |
Chr21:45512404 [GRCh38]
Chr21:46932318 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.*824G>A |
single nucleotide variant |
Knobloch syndrome [RCV001140601] |
Chr21:45513222 [GRCh38]
Chr21:46933136 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3532_3533del (p.Gly1178fs) |
deletion |
Knobloch syndrome [RCV001253603]|not provided [RCV001780202] |
Chr21:45510100..45510101 [GRCh38]
Chr21:46930014..46930015 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 |
copy number gain |
See cases [RCV001263025] |
Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.2917C>T (p.Gln973Ter) |
single nucleotide variant |
not provided [RCV001311577] |
Chr21:45505182 [GRCh38]
Chr21:46925096 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3217-63A>T |
single nucleotide variant |
not specified [RCV001261620] |
Chr21:45507498 [GRCh38]
Chr21:46927412 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2931dup (p.Ile978fs) |
duplication |
early onset and severe retinal dystrophy [RCV001270473] |
Chr21:45505195..45505196 [GRCh38]
Chr21:46925109..46925110 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3532G>A (p.Gly1178Ser) |
single nucleotide variant |
not provided [RCV001325283] |
Chr21:45510100 [GRCh38]
Chr21:46930014 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3466G>A (p.Ala1156Thr) |
single nucleotide variant |
Knobloch syndrome [RCV001329611]|not provided [RCV001863205] |
Chr21:45509572 [GRCh38]
Chr21:46929486 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2819C>G (p.Pro940Arg) |
single nucleotide variant |
not provided [RCV001297753] |
Chr21:45504507 [GRCh38]
Chr21:46924421 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2771G>A (p.Arg924Lys) |
single nucleotide variant |
not provided [RCV001309323] |
Chr21:45504459 [GRCh38]
Chr21:46924373 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3311C>T (p.Pro1104Leu) |
single nucleotide variant |
not provided [RCV001362374] |
Chr21:45509417 [GRCh38]
Chr21:46929331 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3183C>T (p.Tyr1061=) |
single nucleotide variant |
not provided [RCV001392109] |
Chr21:45505933 [GRCh38]
Chr21:46925847 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_194255.4(SLC19A1):c.631TTC[1] (p.Phe212del) |
microsatellite |
Megaloblastic anemia, folate-responsive [RCV001796461] |
Chr21:45531702..45531704 [GRCh38]
Chr21:46951616..46951618 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3607C>T (p.Arg1203Cys) |
single nucleotide variant |
not provided [RCV001374229] |
Chr21:45510175 [GRCh38]
Chr21:46930089 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2947C>T (p.Arg983Cys) |
single nucleotide variant |
Glaucoma, primary closed-angle [RCV002504442]|not provided [RCV001298092] |
Chr21:45505212 [GRCh38]
Chr21:46925126 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3295G>A (p.Asp1099Asn) |
single nucleotide variant |
not provided [RCV001303430] |
Chr21:45509401 [GRCh38]
Chr21:46929315 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3524T>C (p.Leu1175Pro) |
single nucleotide variant |
not provided [RCV001327326] |
Chr21:45510092 [GRCh38]
Chr21:46930006 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3133G>A (p.Glu1045Lys) |
single nucleotide variant |
not provided [RCV001346834] |
Chr21:45505883 [GRCh38]
Chr21:46925797 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3757G>A (p.Gly1253Arg) |
single nucleotide variant |
Glaucoma, primary closed-angle [RCV002486419]|not provided [RCV001347335] |
Chr21:45511174 [GRCh38]
Chr21:46931088 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 |
copy number gain |
Complete trisomy 21 syndrome [RCV002284306] |
Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3249G>A (p.Thr1083=) |
single nucleotide variant |
not provided [RCV001374359] |
Chr21:45507593 [GRCh38]
Chr21:46927507 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2948G>A (p.Arg983His) |
single nucleotide variant |
Glaucoma, primary closed-angle [RCV002499687]|not provided [RCV001344386] |
Chr21:45505213 [GRCh38]
Chr21:46925127 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2822C>T (p.Pro941Leu) |
single nucleotide variant |
not provided [RCV001337301] |
Chr21:45504510 [GRCh38]
Chr21:46924424 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3958A>G (p.Ser1320Gly) |
single nucleotide variant |
not provided [RCV001370755] |
Chr21:45512336 [GRCh38]
Chr21:46932250 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3115A>G (p.Met1039Val) |
single nucleotide variant |
not provided [RCV001364338] |
Chr21:45505865 [GRCh38]
Chr21:46925779 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3875_3881del (p.Glu1292fs) |
deletion |
not provided [RCV001339641] |
Chr21:45512250..45512256 [GRCh38]
Chr21:46932164..46932170 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3294C>T (p.His1098=) |
single nucleotide variant |
not provided [RCV001413988] |
Chr21:45509400 [GRCh38]
Chr21:46929314 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_030582.4(COL18A1):c.3372A>C (p.Pro1124=) |
single nucleotide variant |
not provided [RCV001413504] |
Chr21:45504520 [GRCh38]
Chr21:46924434 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3380G>A (p.Arg1127His) |
single nucleotide variant |
not provided [RCV001339737] |
Chr21:45509486 [GRCh38]
Chr21:46929400 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3690C>G (p.Leu1230=) |
single nucleotide variant |
not provided [RCV001499103] |
Chr21:45510258 [GRCh38]
Chr21:46930172 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3217-6T>A |
single nucleotide variant |
not provided [RCV001475088] |
Chr21:45507555 [GRCh38]
Chr21:46927469 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3217-18C>T |
single nucleotide variant |
not provided [RCV001465234] |
Chr21:45507543 [GRCh38]
Chr21:46927457 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3369C>T (p.Ala1123=) |
single nucleotide variant |
not provided [RCV001520738] |
Chr21:45509475 [GRCh38]
Chr21:46929389 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3809+17G>A |
single nucleotide variant |
not provided [RCV001519806] |
Chr21:45511243 [GRCh38]
Chr21:46931157 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3694-79_3694-78del |
deletion |
not provided [RCV001539237] |
Chr21:45511032..45511033 [GRCh38]
Chr21:46930946..46930947 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2684-19G>A |
single nucleotide variant |
not provided [RCV001518375] |
Chr21:45503992 [GRCh38]
Chr21:46923906 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3048GCCCCCTGG[3] (p.1011PPG[5]) |
microsatellite |
not provided [RCV001446139] |
Chr21:45505383..45505384 [GRCh38]
Chr21:46925297..46925298 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3969C>T (p.His1323=) |
single nucleotide variant |
not provided [RCV001407087] |
Chr21:45512347 [GRCh38]
Chr21:46932261 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3316C>T (p.Arg1106Trp) |
single nucleotide variant |
Glaucoma, primary closed-angle [RCV002501574]|not provided [RCV001448753] |
Chr21:45509422 [GRCh38]
Chr21:46929336 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3496-17C>T |
single nucleotide variant |
not provided [RCV001432664] |
Chr21:45510047 [GRCh38]
Chr21:46929961 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2958T>C (p.Pro986=) |
single nucleotide variant |
not provided [RCV001449303] |
Chr21:45505223 [GRCh38]
Chr21:46925137 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3672C>G (p.Ala1224=) |
single nucleotide variant |
not provided [RCV001449519] |
Chr21:45510240 [GRCh38]
Chr21:46930154 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2901C>G (p.Pro967=) |
single nucleotide variant |
not provided [RCV001403716] |
Chr21:45505166 [GRCh38]
Chr21:46925080 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3480C>T (p.Arg1160=) |
single nucleotide variant |
not provided [RCV001442623] |
Chr21:45509586 [GRCh38]
Chr21:46929500 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3279C>A (p.Pro1093=) |
single nucleotide variant |
not provided [RCV001435177] |
Chr21:45509385 [GRCh38]
Chr21:46929299 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2961C>A (p.Pro987=) |
single nucleotide variant |
not provided [RCV001450303] |
Chr21:45505226 [GRCh38]
Chr21:46925140 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2964CCCCCCAGG[3] (p.985GPP[5]) |
microsatellite |
not provided [RCV001502759] |
Chr21:45505226..45505227 [GRCh38]
Chr21:46925140..46925141 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3694-95_3694-91del |
deletion |
not provided [RCV001715485] |
Chr21:45511016..45511020 [GRCh38]
Chr21:46930930..46930934 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3694-41C>A |
single nucleotide variant |
not provided [RCV001716519] |
Chr21:45511070 [GRCh38]
Chr21:46930984 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3810-11G>A |
single nucleotide variant |
not provided [RCV001519655] |
Chr21:45512177 [GRCh38]
Chr21:46932091 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3965A>G (p.His1322Arg) |
single nucleotide variant |
not provided [RCV001482355] |
Chr21:45512343 [GRCh38]
Chr21:46932257 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3087+71A>G |
single nucleotide variant |
not provided [RCV001687225] |
Chr21:45505502 [GRCh38]
Chr21:46925416 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3905C>T (p.Thr1302Met) |
single nucleotide variant |
not provided [RCV001589458] |
Chr21:45512283 [GRCh38]
Chr21:46932197 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3048GCCCCCTGG[1] (p.1011PPG[3]) |
microsatellite |
not provided [RCV001517020] |
Chr21:45505384..45505392 [GRCh38]
Chr21:46925298..46925306 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3250-176A>G |
single nucleotide variant |
not provided [RCV001671852] |
Chr21:45509180 [GRCh38]
Chr21:46929094 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3087+80C>A |
single nucleotide variant |
not provided [RCV001614505] |
Chr21:45505511 [GRCh38]
Chr21:46925425 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3694-172A>G |
single nucleotide variant |
not provided [RCV001654132] |
Chr21:45510939 [GRCh38]
Chr21:46930853 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2982G>C (p.Gly994=) |
single nucleotide variant |
not provided [RCV001513043] |
Chr21:45505247 [GRCh38]
Chr21:46925161 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_001379500.1(COL18A1):c.2823_2840del (p.938PGP[2]) |
deletion |
not provided [RCV001513041] |
Chr21:45504503..45504520 [GRCh38]
Chr21:46924417..46924434 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3310_3311delinsTG (p.Pro1104Trp) |
indel |
Knobloch syndrome [RCV001724766] |
Chr21:45509416..45509417 [GRCh38]
Chr21:46929330..46929331 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2814CGGCCCCCC[1] (p.938PGP[3]) |
microsatellite |
not provided [RCV001523437] |
Chr21:45504500..45504508 [GRCh38]
Chr21:46924414..46924422 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2970A>C (p.Pro990=) |
single nucleotide variant |
not provided [RCV001456832] |
Chr21:45505235 [GRCh38]
Chr21:46925149 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3609C>T (p.Arg1203=) |
single nucleotide variant |
not provided [RCV001514519] |
Chr21:45510177 [GRCh38]
Chr21:46930091 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3077C>T (p.Ala1026Val) |
single nucleotide variant |
not provided [RCV001401517] |
Chr21:45505421 [GRCh38]
Chr21:46925335 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3496-5C>T |
single nucleotide variant |
not provided [RCV001513044] |
Chr21:45510059 [GRCh38]
Chr21:46929973 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3496-18G>A |
single nucleotide variant |
not provided [RCV001513075] |
Chr21:45510046 [GRCh38]
Chr21:46929960 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3495+13C>G |
single nucleotide variant |
not provided [RCV001520512] |
Chr21:45509614 [GRCh38]
Chr21:46929528 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2869-14G>A |
single nucleotide variant |
not provided [RCV001518914] |
Chr21:45505120 [GRCh38]
Chr21:46925034 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3920C>T (p.Ser1307Leu) |
single nucleotide variant |
not provided [RCV001451600] |
Chr21:45512298 [GRCh38]
Chr21:46932212 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3198C>T (p.Asn1066=) |
single nucleotide variant |
not provided [RCV001519713] |
Chr21:45505948 [GRCh38]
Chr21:46925862 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3014-19C>T |
single nucleotide variant |
not provided [RCV001519731] |
Chr21:45505339 [GRCh38]
Chr21:46925253 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3495+14C>G |
single nucleotide variant |
Glaucoma, primary closed-angle [RCV002506624]|not provided [RCV001519174]|not specified [RCV001699569] |
Chr21:45509615 [GRCh38]
Chr21:46929529 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_001379500.1(COL18A1):c.2961C>T (p.Pro987=) |
single nucleotide variant |
not provided [RCV001521482] |
Chr21:45505226 [GRCh38]
Chr21:46925140 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2824_2832= (p.Gly942_Pro944=) |
variation |
not provided [RCV001521796] |
Chr21:45504512..45504520 [GRCh38]
Chr21:46924426..46924434 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3075C>T (p.Gly1025=) |
single nucleotide variant |
not provided [RCV001504134] |
Chr21:45505419 [GRCh38]
Chr21:46925333 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3809+16C>T |
single nucleotide variant |
not provided [RCV001398723] |
Chr21:45511242 [GRCh38]
Chr21:46931156 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3311C>G (p.Pro1104Arg) |
single nucleotide variant |
not provided [RCV001519944]|not specified [RCV001821834] |
Chr21:45509417 [GRCh38]
Chr21:46929331 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3750G>A (p.Leu1250=) |
single nucleotide variant |
not provided [RCV001516122] |
Chr21:45511167 [GRCh38]
Chr21:46931081 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3314G>A (p.Arg1105Gln) |
single nucleotide variant |
not provided [RCV001522579]|not specified [RCV001821841] |
Chr21:45509420 [GRCh38]
Chr21:46929334 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_001379500.1(COL18A1):c.3386C>A (p.Pro1129His) |
single nucleotide variant |
Knobloch syndrome [RCV001761653] |
Chr21:45509492 [GRCh38]
Chr21:46929406 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 |
copy number gain |
See cases [RCV001780078] |
Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3 |
pathogenic |
| NM_030582.4(COL18A1):c.3367_3384del (p.Pro1123_Gly1128del) |
deletion |
not specified [RCV001818083] |
Chr21:45504521..45504538 [GRCh38]
Chr21:46924435..46924452 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3013+3A>C |
single nucleotide variant |
Knobloch syndrome [RCV000018656] |
Chr21:45505281 [GRCh38]
Chr21:46925195 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.2785G>A (p.Gly929Ser) |
single nucleotide variant |
not provided [RCV002001507] |
Chr21:45504473 [GRCh38]
Chr21:46924387 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2837C>T (p.Pro946Leu) |
single nucleotide variant |
not provided [RCV002045589] |
Chr21:45504534 [GRCh38]
Chr21:46924448 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3379C>T (p.Arg1127Cys) |
single nucleotide variant |
not provided [RCV001985368] |
Chr21:45509485 [GRCh38]
Chr21:46929399 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3478C>T (p.Arg1160Cys) |
single nucleotide variant |
not provided [RCV002045293] |
Chr21:45509584 [GRCh38]
Chr21:46929498 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3216+6C>T |
single nucleotide variant |
not provided [RCV001874119] |
Chr21:45505972 [GRCh38]
Chr21:46925886 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) |
copy number gain |
not specified [RCV002052723] |
Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372) |
copy number loss |
not specified [RCV002052739] |
Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3430G>A (p.Val1144Met) |
single nucleotide variant |
not provided [RCV001895765] |
Chr21:45509536 [GRCh38]
Chr21:46929450 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3106C>A (p.Arg1036Ser) |
single nucleotide variant |
not provided [RCV001971253] |
Chr21:45505856 [GRCh38]
Chr21:46925770 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3887C>T (p.Thr1296Met) |
single nucleotide variant |
not provided [RCV001950719] |
Chr21:45512265 [GRCh38]
Chr21:46932179 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3358G>A (p.Asp1120Asn) |
single nucleotide variant |
not provided [RCV001966395] |
Chr21:45509464 [GRCh38]
Chr21:46929378 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NC_000021.8:g.(?_43160998)_(47865240_?)dup |
duplication |
Cataract 9 multiple types [RCV001913783]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001913780]|Leukocyte adhesion deficiency 1 [RCV001913784]|Polyglandular autoimmune syndrome, type 1 [RCV001913781]|Primary ciliary dyskinesia [RCV001913782] |
Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2755G>A (p.Gly919Arg) |
single nucleotide variant |
not provided [RCV001949865] |
Chr21:45504443 [GRCh38]
Chr21:46924357 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3580C>T (p.Arg1194Trp) |
single nucleotide variant |
not provided [RCV001863463] |
Chr21:45510148 [GRCh38]
Chr21:46930062 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NC_000021.8:g.(?_44838120)_(47865240_?)del |
deletion |
not provided [RCV001987971] |
Chr21:44838120..47865240 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2824G>A (p.Gly942Ser) |
single nucleotide variant |
not provided [RCV001913104] |
Chr21:45504521 [GRCh38]
Chr21:46924435 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3760G>T (p.Ala1254Ser) |
single nucleotide variant |
not provided [RCV001926404] |
Chr21:45511177 [GRCh38]
Chr21:46931091 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3491C>T (p.Pro1164Leu) |
single nucleotide variant |
not provided [RCV001965168] |
Chr21:45509597 [GRCh38]
Chr21:46929511 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 |
copy number gain |
not provided [RCV001829203] |
Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3297C>A (p.Asp1099Glu) |
single nucleotide variant |
not provided [RCV002008637] |
Chr21:45509403 [GRCh38]
Chr21:46929317 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3310C>T (p.Pro1104Ser) |
single nucleotide variant |
not provided [RCV001929677] |
Chr21:45509416 [GRCh38]
Chr21:46929330 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_194255.4(SLC19A1):c.1403C>T (p.Pro468Leu) |
single nucleotide variant |
not provided [RCV002007886] |
Chr21:45516031 [GRCh38]
Chr21:46935945 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3421A>G (p.Ser1141Gly) |
single nucleotide variant |
not provided [RCV001949915] |
Chr21:45509527 [GRCh38]
Chr21:46929441 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2707C>T (p.Gln903Ter) |
single nucleotide variant |
not provided [RCV001950134] |
Chr21:45504034 [GRCh38]
Chr21:46923948 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3154A>G (p.Ile1052Val) |
single nucleotide variant |
not provided [RCV002005263] |
Chr21:45505904 [GRCh38]
Chr21:46925818 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3160G>A (p.Val1054Met) |
single nucleotide variant |
not provided [RCV001929101] |
Chr21:45505910 [GRCh38]
Chr21:46925824 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3749T>C (p.Leu1250Pro) |
single nucleotide variant |
not provided [RCV001863899] |
Chr21:45511166 [GRCh38]
Chr21:46931080 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2983C>A (p.Pro995Thr) |
single nucleotide variant |
not provided [RCV002044995] |
Chr21:45505248 [GRCh38]
Chr21:46925162 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2781dup (p.Gly928fs) |
duplication |
not provided [RCV001929516] |
Chr21:45504466..45504467 [GRCh38]
Chr21:46924380..46924381 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3396G>T (p.Gln1132His) |
single nucleotide variant |
not provided [RCV001896858] |
Chr21:45509502 [GRCh38]
Chr21:46929416 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3265G>A (p.Ala1089Thr) |
single nucleotide variant |
not provided [RCV001909383] |
Chr21:45509371 [GRCh38]
Chr21:46929285 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3440G>A (p.Arg1147Gln) |
single nucleotide variant |
not provided [RCV001985298] |
Chr21:45509546 [GRCh38]
Chr21:46929460 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3520C>T (p.Pro1174Ser) |
single nucleotide variant |
not provided [RCV001986596] |
Chr21:45510088 [GRCh38]
Chr21:46930002 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3306dup (p.Tyr1103fs) |
duplication |
not provided [RCV001950486] |
Chr21:45509408..45509409 [GRCh38]
Chr21:46929322..46929323 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3899C>T (p.Ser1300Leu) |
single nucleotide variant |
not provided [RCV001950490] |
Chr21:45512277 [GRCh38]
Chr21:46932191 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3006C>G (p.His1002Gln) |
single nucleotide variant |
not provided [RCV001930051] |
Chr21:45505271 [GRCh38]
Chr21:46925185 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3929G>A (p.Gly1310Glu) |
single nucleotide variant |
not provided [RCV001971711] |
Chr21:45512307 [GRCh38]
Chr21:46932221 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q22.3(chr21:46922436-48097372)x3 |
copy number gain |
not provided [RCV001834168] |
Chr21:46922436..48097372 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2717C>G (p.Ala906Gly) |
single nucleotide variant |
not provided [RCV002043756] |
Chr21:45504044 [GRCh38]
Chr21:46923958 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3076G>A (p.Ala1026Thr) |
single nucleotide variant |
not provided [RCV001984297] |
Chr21:45505420 [GRCh38]
Chr21:46925334 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3206G>A (p.Arg1069Gln) |
single nucleotide variant |
not provided [RCV001891188] |
Chr21:45505956 [GRCh38]
Chr21:46925870 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_194255.4(SLC19A1):c.1753G>A (p.Gly585Ser) |
single nucleotide variant |
not provided [RCV001965951] |
Chr21:45515681 [GRCh38]
Chr21:46935595 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2728G>A (p.Gly910Arg) |
single nucleotide variant |
Knobloch syndrome 1 [RCV002290834]|not provided [RCV002004102] |
Chr21:45504416 [GRCh38]
Chr21:46924330 [GRCh37]
Chr21:21q22.3 |
likely pathogenic|uncertain significance |
| NM_001379500.1(COL18A1):c.3155T>A (p.Ile1052Asn) |
single nucleotide variant |
not provided [RCV001969169] |
Chr21:45505905 [GRCh38]
Chr21:46925819 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3188G>C (p.Arg1063Pro) |
single nucleotide variant |
not provided [RCV002040624] |
Chr21:45505938 [GRCh38]
Chr21:46925852 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_194255.4(SLC19A1):c.443G>A (p.Arg148His) |
single nucleotide variant |
not provided [RCV001967907] |
Chr21:45531895 [GRCh38]
Chr21:46951809 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3048GCCCCCTGG[4] (p.1011PPG[6]) |
microsatellite |
not provided [RCV001964240] |
Chr21:45505383..45505384 [GRCh38]
Chr21:46925297..46925298 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3691A>G (p.Lys1231Glu) |
single nucleotide variant |
not provided [RCV001966546] |
Chr21:45510259 [GRCh38]
Chr21:46930173 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3250-3C>T |
single nucleotide variant |
not provided [RCV002006668] |
Chr21:45509353 [GRCh38]
Chr21:46929267 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3590_3591del (p.Gly1197fs) |
deletion |
not provided [RCV001780528] |
Chr21:45510156..45510157 [GRCh38]
Chr21:46930070..46930071 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3058C>T (p.Pro1020Ser) |
single nucleotide variant |
not provided [RCV001889639] |
Chr21:45505402 [GRCh38]
Chr21:46925316 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3340C>G (p.Arg1114Gly) |
single nucleotide variant |
not provided [RCV001893154] |
Chr21:45509446 [GRCh38]
Chr21:46929360 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3007A>G (p.Arg1003Gly) |
single nucleotide variant |
not provided [RCV001984405] |
Chr21:45505272 [GRCh38]
Chr21:46925186 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3242G>A (p.Arg1081Gln) |
single nucleotide variant |
not provided [RCV001947330] |
Chr21:45507586 [GRCh38]
Chr21:46927500 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2937C>G (p.Gly979=) |
single nucleotide variant |
not provided [RCV001912197] |
Chr21:45505202 [GRCh38]
Chr21:46925116 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3586G>A (p.Val1196Met) |
single nucleotide variant |
not provided [RCV001909075] |
Chr21:45510154 [GRCh38]
Chr21:46930068 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3956C>T (p.Ala1319Val) |
single nucleotide variant |
not provided [RCV001945981] |
Chr21:45512334 [GRCh38]
Chr21:46932248 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2728-6C>A |
single nucleotide variant |
not provided [RCV002021197] |
Chr21:45504410 [GRCh38]
Chr21:46924324 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3388G>A (p.Glu1130Lys) |
single nucleotide variant |
not provided [RCV001910828] |
Chr21:45509494 [GRCh38]
Chr21:46929408 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2979_2988dup (p.Ser997fs) |
duplication |
not provided [RCV001967402] |
Chr21:45505243..45505244 [GRCh38]
Chr21:46925157..46925158 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3107G>A (p.Arg1036His) |
single nucleotide variant |
not provided [RCV001967277] |
Chr21:45505857 [GRCh38]
Chr21:46925771 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3043C>G (p.Pro1015Ala) |
single nucleotide variant |
not provided [RCV002003358] |
Chr21:45505387 [GRCh38]
Chr21:46925301 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3928G>C (p.Gly1310Arg) |
single nucleotide variant |
not provided [RCV001909580] |
Chr21:45512306 [GRCh38]
Chr21:46932220 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2818C>T (p.Pro940Ser) |
single nucleotide variant |
not provided [RCV001949125] |
Chr21:45504506 [GRCh38]
Chr21:46924420 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2869-5C>T |
single nucleotide variant |
not provided [RCV001928516] |
Chr21:45505129 [GRCh38]
Chr21:46925043 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2969C>G (p.Pro990Arg) |
single nucleotide variant |
not provided [RCV001986970] |
Chr21:45505234 [GRCh38]
Chr21:46925148 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2921G>A (p.Gly974Glu) |
single nucleotide variant |
not provided [RCV001928213] |
Chr21:45505186 [GRCh38]
Chr21:46925100 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3940C>T (p.Leu1314=) |
single nucleotide variant |
not provided [RCV001928233] |
Chr21:45512318 [GRCh38]
Chr21:46932232 [GRCh37]
Chr21:21q22.3 |
likely benign |
| GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) |
copy number gain |
not specified [RCV002052725] |
Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3884G>A (p.Arg1295Gln) |
single nucleotide variant |
not provided [RCV001986084] |
Chr21:45512262 [GRCh38]
Chr21:46932176 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3165C>T (p.Ala1055=) |
single nucleotide variant |
not provided [RCV001892874] |
Chr21:45505915 [GRCh38]
Chr21:46925829 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3495+20G>A |
single nucleotide variant |
not provided [RCV001969097] |
Chr21:45509621 [GRCh38]
Chr21:46929535 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3926T>A (p.Leu1309Gln) |
single nucleotide variant |
not provided [RCV001872176] |
Chr21:45512304 [GRCh38]
Chr21:46932218 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3248C>T (p.Thr1083Met) |
single nucleotide variant |
not provided [RCV001786226] |
Chr21:45507592 [GRCh38]
Chr21:46927506 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2772G>T (p.Arg924Ser) |
single nucleotide variant |
not provided [RCV001889980] |
Chr21:45504460 [GRCh38]
Chr21:46924374 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) |
copy number gain |
not specified [RCV002052724] |
Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3764G>C (p.Arg1255Pro) |
single nucleotide variant |
not provided [RCV002024492] |
Chr21:45511181 [GRCh38]
Chr21:46931095 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3011A>G (p.Gln1004Arg) |
single nucleotide variant |
not provided [RCV002004458] |
Chr21:45505276 [GRCh38]
Chr21:46925190 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3013+10dup |
duplication |
not provided [RCV001966979] |
Chr21:45505287..45505288 [GRCh38]
Chr21:46925201..46925202 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3719A>G (p.Glu1240Gly) |
single nucleotide variant |
not provided [RCV001872349] |
Chr21:45511136 [GRCh38]
Chr21:46931050 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3130C>T (p.His1044Tyr) |
single nucleotide variant |
not provided [RCV002043860] |
Chr21:45505880 [GRCh38]
Chr21:46925794 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3439C>T (p.Arg1147Trp) |
single nucleotide variant |
not provided [RCV001928717] |
Chr21:45509545 [GRCh38]
Chr21:46929459 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2766C>T (p.Gly922=) |
single nucleotide variant |
not provided [RCV001948295] |
Chr21:45504454 [GRCh38]
Chr21:46924368 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2747G>A (p.Gly916Asp) |
single nucleotide variant |
not provided [RCV001967250] |
Chr21:45504435 [GRCh38]
Chr21:46924349 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q22.3(chr21:45265857-47057233) |
copy number loss |
not specified [RCV002052743] |
Chr21:45265857..47057233 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NC_000021.8:g.(?_45919666)_(47865240_?)del |
deletion |
not provided [RCV001947021] |
Chr21:45919666..47865240 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3087+6T>C |
single nucleotide variant |
not provided [RCV001912488] |
Chr21:45505437 [GRCh38]
Chr21:46925351 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3923T>C (p.Leu1308Pro) |
single nucleotide variant |
not provided [RCV002023581] |
Chr21:45512301 [GRCh38]
Chr21:46932215 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3941dup (p.Gln1316fs) |
duplication |
not provided [RCV001780808] |
Chr21:45512318..45512319 [GRCh38]
Chr21:46932232..46932233 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_001379500.1(COL18A1):c.3664C>T (p.Arg1222Cys) |
single nucleotide variant |
not provided [RCV002039850] |
Chr21:45510232 [GRCh38]
Chr21:46930146 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3434A>G (p.His1145Arg) |
single nucleotide variant |
not provided [RCV002039908] |
Chr21:45509540 [GRCh38]
Chr21:46929454 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2932_2964del (p.Ile978_Gly988del) |
deletion |
not provided [RCV001872281] |
Chr21:45505191..45505223 [GRCh38]
Chr21:46925105..46925137 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3470A>C (p.His1157Pro) |
single nucleotide variant |
not provided [RCV002022400] |
Chr21:45509576 [GRCh38]
Chr21:46929490 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3916T>G (p.Ser1306Ala) |
single nucleotide variant |
not provided [RCV001871247] |
Chr21:45512294 [GRCh38]
Chr21:46932208 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3655C>T (p.Arg1219Cys) |
single nucleotide variant |
not provided [RCV001893118] |
Chr21:45510223 [GRCh38]
Chr21:46930137 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3142G>A (p.Glu1048Lys) |
single nucleotide variant |
not provided [RCV001891087] |
Chr21:45505892 [GRCh38]
Chr21:46925806 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3444G>A (p.Pro1148=) |
single nucleotide variant |
not provided [RCV001894667] |
Chr21:45509550 [GRCh38]
Chr21:46929464 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3979G>A (p.Val1327Met) |
single nucleotide variant |
not provided [RCV001871093] |
Chr21:45512357 [GRCh38]
Chr21:46932271 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3449G>A (p.Arg1150Gln) |
single nucleotide variant |
not provided [RCV001985931] |
Chr21:45509555 [GRCh38]
Chr21:46929469 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3005A>G (p.His1002Arg) |
single nucleotide variant |
not provided [RCV002006782] |
Chr21:45505270 [GRCh38]
Chr21:46925184 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3227G>C (p.Arg1076Pro) |
single nucleotide variant |
not provided [RCV002006814] |
Chr21:45507571 [GRCh38]
Chr21:46927485 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3970G>A (p.Ala1324Thr) |
single nucleotide variant |
not provided [RCV002023491] |
Chr21:45512348 [GRCh38]
Chr21:46932262 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2786G>A (p.Gly929Asp) |
single nucleotide variant |
not provided [RCV001983547] |
Chr21:45504474 [GRCh38]
Chr21:46924388 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3764G>T (p.Arg1255Leu) |
single nucleotide variant |
not provided [RCV001893472] |
Chr21:45511181 [GRCh38]
Chr21:46931095 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q22.3(chr21:45773272-48097372) |
copy number loss |
not specified [RCV002052744] |
Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| GRCh37/hg19 21q22.3(chr21:46777490-47168397)x3 |
copy number gain |
not provided [RCV001834466] |
Chr21:46777490..47168397 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3889G>C (p.Glu1297Gln) |
single nucleotide variant |
not provided [RCV001999162] |
Chr21:45512267 [GRCh38]
Chr21:46932181 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2786dup (p.Gly930fs) |
duplication |
not provided [RCV001957130] |
Chr21:45504469..45504470 [GRCh38]
Chr21:46924383..46924384 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.2984C>A (p.Pro995His) |
single nucleotide variant |
not provided [RCV002019861] |
Chr21:45505249 [GRCh38]
Chr21:46925163 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3077C>G (p.Ala1026Gly) |
single nucleotide variant |
not provided [RCV001881809] |
Chr21:45505421 [GRCh38]
Chr21:46925335 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3350G>A (p.Arg1117Gln) |
single nucleotide variant |
not provided [RCV001942700] |
Chr21:45509456 [GRCh38]
Chr21:46929370 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3964C>A (p.His1322Asn) |
single nucleotide variant |
not provided [RCV001962834] |
Chr21:45512342 [GRCh38]
Chr21:46932256 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3388_3393del (p.Glu1130_Pro1131del) |
deletion |
not provided [RCV001954547] |
Chr21:45509490..45509495 [GRCh38]
Chr21:46929404..46929409 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3053dup (p.Gly1019fs) |
duplication |
not provided [RCV001999903] |
Chr21:45505392..45505393 [GRCh38]
Chr21:46925306..46925307 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3661_3677del (p.Asp1221fs) |
deletion |
not provided [RCV001999934] |
Chr21:45510221..45510237 [GRCh38]
Chr21:46930135..46930151 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.2822C>G (p.Pro941Arg) |
single nucleotide variant |
not provided [RCV001905723] |
Chr21:45504510 [GRCh38]
Chr21:46924424 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_194255.4(SLC19A1):c.1024G>T (p.Val342Phe) |
single nucleotide variant |
not provided [RCV001942425] |
Chr21:45530897 [GRCh38]
Chr21:46950811 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3812C>T (p.Pro1271Leu) |
single nucleotide variant |
not provided [RCV002038232] |
Chr21:45512190 [GRCh38]
Chr21:46932104 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3172G>T (p.Glu1058Ter) |
single nucleotide variant |
not provided [RCV001939623] |
Chr21:45505922 [GRCh38]
Chr21:46925836 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.2824_2831del (p.Gly942fs) |
deletion |
not provided [RCV001974474] |
Chr21:45504506..45504513 [GRCh38]
Chr21:46924420..46924427 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3646A>G (p.Ile1216Val) |
single nucleotide variant |
not provided [RCV002033228] |
Chr21:45510214 [GRCh38]
Chr21:46930128 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3764G>A (p.Arg1255His) |
single nucleotide variant |
not provided [RCV001939075] |
Chr21:45511181 [GRCh38]
Chr21:46931095 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NC_000021.8:g.(?_46306283)_(47865240_?)del |
deletion |
not provided [RCV001943317] |
Chr21:46306283..47865240 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2728-2del |
deletion |
not provided [RCV001980753] |
Chr21:45504414 [GRCh38]
Chr21:46924328 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_001379500.1(COL18A1):c.2961_2978dup (p.985GPP[6]) |
duplication |
not provided [RCV001906484] |
Chr21:45505223..45505224 [GRCh38]
Chr21:46925137..46925138 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3568T>C (p.Phe1190Leu) |
single nucleotide variant |
not provided [RCV001899813] |
Chr21:45510136 [GRCh38]
Chr21:46930050 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_194255.4(SLC19A1):c.402C>A (p.Ile134=) |
single nucleotide variant |
not provided [RCV001980891] |
Chr21:45531936 [GRCh38]
Chr21:46951850 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3649G>A (p.Val1217Met) |
single nucleotide variant |
not provided [RCV001979743] |
Chr21:45510217 [GRCh38]
Chr21:46930131 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3581G>A (p.Arg1194Gln) |
single nucleotide variant |
not provided [RCV001915869] |
Chr21:45510149 [GRCh38]
Chr21:46930063 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_194255.4(SLC19A1):c.1151+16G>T |
single nucleotide variant |
not provided [RCV001999526] |
Chr21:45530754 [GRCh38]
Chr21:46950668 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2818C>A (p.Pro940Thr) |
single nucleotide variant |
not provided [RCV002001410] |
Chr21:45504506 [GRCh38]
Chr21:46924420 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3628C>G (p.Leu1210Val) |
single nucleotide variant |
not provided [RCV001979750] |
Chr21:45510196 [GRCh38]
Chr21:46930110 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.4008_*2dup (p.Thr1336_Ter1340=) |
duplication |
not provided [RCV001869997] |
Chr21:45512384..45512385 [GRCh38]
Chr21:46932298..46932299 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3773_3775del (p.Ser1258del) |
deletion |
not provided [RCV001936062] |
Chr21:45511188..45511190 [GRCh38]
Chr21:46931102..46931104 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3608G>A (p.Arg1203His) |
single nucleotide variant |
not provided [RCV002020132] |
Chr21:45510176 [GRCh38]
Chr21:46930090 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3810-12C>T |
single nucleotide variant |
not provided [RCV001875558] |
Chr21:45512176 [GRCh38]
Chr21:46932090 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2727G>A (p.Lys909=) |
single nucleotide variant |
not provided [RCV001901388] |
Chr21:45504054 [GRCh38]
Chr21:46923968 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2772G>C (p.Arg924Ser) |
single nucleotide variant |
not provided [RCV001962259] |
Chr21:45504460 [GRCh38]
Chr21:46924374 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3664C>G (p.Arg1222Gly) |
single nucleotide variant |
not provided [RCV001960979] |
Chr21:45510232 [GRCh38]
Chr21:46930146 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3549_3586del (p.Asp1186fs) |
deletion |
not provided [RCV001963219] |
Chr21:45510114..45510151 [GRCh38]
Chr21:46930028..46930065 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3553G>A (p.Ala1185Thr) |
single nucleotide variant |
not provided [RCV002000279] |
Chr21:45510121 [GRCh38]
Chr21:46930035 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NC_000021.8:g.(?_43160998)_(47865240_?)del |
deletion |
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001956307] |
Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3537G>T (p.Met1179Ile) |
single nucleotide variant |
not provided [RCV002046691] |
Chr21:45510105 [GRCh38]
Chr21:46930019 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2832_2839del (p.Gly945fs) |
deletion |
not provided [RCV001920226] |
Chr21:45504515..45504522 [GRCh38]
Chr21:46924429..46924436 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3050_3075del (p.Pro1017fs) |
deletion |
not provided [RCV001975123] |
Chr21:45505389..45505414 [GRCh38]
Chr21:46925303..46925328 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3562C>T (p.Gln1188Ter) |
single nucleotide variant |
not provided [RCV001975161] |
Chr21:45510130 [GRCh38]
Chr21:46930044 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_194255.4(SLC19A1):c.1165T>A (p.Ser389Thr) |
single nucleotide variant |
not provided [RCV001919274] |
Chr21:45525945 [GRCh38]
Chr21:46945859 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2882A>G (p.Glu961Gly) |
single nucleotide variant |
not provided [RCV001916611] |
Chr21:45505147 [GRCh38]
Chr21:46925061 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2927_2978del (p.Pro976fs) |
deletion |
not provided [RCV001921239] |
Chr21:45505188..45505239 [GRCh38]
Chr21:46925102..46925153 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.2728G>T (p.Gly910Trp) |
single nucleotide variant |
not provided [RCV001995029] |
Chr21:45504416 [GRCh38]
Chr21:46924330 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3743G>A (p.Gly1248Asp) |
single nucleotide variant |
not provided [RCV001933693] |
Chr21:45511160 [GRCh38]
Chr21:46931074 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2969_2978dup (p.Gly994fs) |
duplication |
not provided [RCV001932611] |
Chr21:45505228..45505229 [GRCh38]
Chr21:46925142..46925143 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.2824_2840del (p.Gly942fs) |
deletion |
not provided [RCV001994470] |
Chr21:45504506..45504522 [GRCh38]
Chr21:46924420..46924436 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3971C>T (p.Ala1324Val) |
single nucleotide variant |
not provided [RCV001996293] |
Chr21:45512349 [GRCh38]
Chr21:46932263 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3802C>T (p.Pro1268Ser) |
single nucleotide variant |
not provided [RCV001877681] |
Chr21:45511219 [GRCh38]
Chr21:46931133 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3079T>G (p.Ser1027Ala) |
single nucleotide variant |
not provided [RCV001904464] |
Chr21:45505423 [GRCh38]
Chr21:46925337 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2887A>T (p.Ile963Phe) |
single nucleotide variant |
not provided [RCV001933961] |
Chr21:45505152 [GRCh38]
Chr21:46925066 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3686A>G (p.Asn1229Ser) |
single nucleotide variant |
not provided [RCV002015693] |
Chr21:45510254 [GRCh38]
Chr21:46930168 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3720G>C (p.Glu1240Asp) |
single nucleotide variant |
not provided [RCV002033398] |
Chr21:45511137 [GRCh38]
Chr21:46931051 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3509C>T (p.Ala1170Val) |
single nucleotide variant |
not provided [RCV002049675] |
Chr21:45510077 [GRCh38]
Chr21:46929991 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3340C>T (p.Arg1114Trp) |
single nucleotide variant |
not provided [RCV001916954] |
Chr21:45509446 [GRCh38]
Chr21:46929360 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3443C>T (p.Pro1148Leu) |
single nucleotide variant |
not provided [RCV001876643] |
Chr21:45509549 [GRCh38]
Chr21:46929463 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3538C>T (p.Arg1180Trp) |
single nucleotide variant |
not provided [RCV002029889] |
Chr21:45510106 [GRCh38]
Chr21:46930020 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2929G>A (p.Gly977Ser) |
single nucleotide variant |
Glaucoma, primary closed-angle [RCV002503520]|not provided [RCV001919823] |
Chr21:45505194 [GRCh38]
Chr21:46925108 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NC_000021.8:g.(?_46929958)_(46936074_?)del |
deletion |
not provided [RCV001956055] |
Chr21:46929958..46936074 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3033_3051del (p.Pro1012fs) |
deletion |
not provided [RCV001950862] |
Chr21:45505372..45505390 [GRCh38]
Chr21:46925286..46925304 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3050C>T (p.Pro1017Leu) |
single nucleotide variant |
not provided [RCV002014712] |
Chr21:45505394 [GRCh38]
Chr21:46925308 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_194255.4(SLC19A1):c.790_810dup (p.Arg264_Trp270dup) |
duplication |
not provided [RCV002033079] |
Chr21:45531527..45531528 [GRCh38]
Chr21:46951441..46951442 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3314G>T (p.Arg1105Leu) |
single nucleotide variant |
not provided [RCV001867810] |
Chr21:45509420 [GRCh38]
Chr21:46929334 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2978_2987dup (p.Ser997fs) |
duplication |
not provided [RCV001994665] |
Chr21:45505235..45505236 [GRCh38]
Chr21:46925149..46925150 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3599G>A (p.Gly1200Asp) |
single nucleotide variant |
not provided [RCV001881304] |
Chr21:45510167 [GRCh38]
Chr21:46930081 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3482A>C (p.Asp1161Ala) |
single nucleotide variant |
not provided [RCV001952493] |
Chr21:45509588 [GRCh38]
Chr21:46929502 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_194255.4(SLC19A1):c.1108G>A (p.Val370Met) |
single nucleotide variant |
not provided [RCV002048814] |
Chr21:45530813 [GRCh38]
Chr21:46950727 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3045del (p.Pro1018fs) |
deletion |
not provided [RCV001972315] |
Chr21:45505389 [GRCh38]
Chr21:46925303 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3144G>T (p.Glu1048Asp) |
single nucleotide variant |
not provided [RCV001990665] |
Chr21:45505894 [GRCh38]
Chr21:46925808 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2979del (p.Pro996fs) |
deletion |
not provided [RCV001972512] |
Chr21:45505244 [GRCh38]
Chr21:46925158 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3781G>A (p.Gly1261Ser) |
single nucleotide variant |
not provided [RCV002050557] |
Chr21:45511198 [GRCh38]
Chr21:46931112 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3017T>A (p.Ile1006Asn) |
single nucleotide variant |
not provided [RCV001993414] |
Chr21:45505361 [GRCh38]
Chr21:46925275 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3058C>G (p.Pro1020Ala) |
single nucleotide variant |
not provided [RCV001922294] |
Chr21:45505402 [GRCh38]
Chr21:46925316 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2768A>G (p.Glu923Gly) |
single nucleotide variant |
not provided [RCV002018159] |
Chr21:45504456 [GRCh38]
Chr21:46924370 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2866C>T (p.Pro956Ser) |
single nucleotide variant |
not provided [RCV001989620] |
Chr21:45504554 [GRCh38]
Chr21:46924468 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3950_*18del (p.Ser1317fs) |
deletion |
not provided [RCV002029398] |
Chr21:45512326..45512414 [GRCh38]
Chr21:46932240..46932328 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3188G>A (p.Arg1063His) |
single nucleotide variant |
not provided [RCV001993631] |
Chr21:45505938 [GRCh38]
Chr21:46925852 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_194255.4(SLC19A1):c.1293+5G>C |
single nucleotide variant |
not provided [RCV002010302] |
Chr21:45525812 [GRCh38]
Chr21:46945726 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3661G>A (p.Asp1221Asn) |
single nucleotide variant |
not provided [RCV002026944] |
Chr21:45510229 [GRCh38]
Chr21:46930143 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3150G>A (p.Trp1050Ter) |
single nucleotide variant |
not provided [RCV001994646] |
Chr21:45505900 [GRCh38]
Chr21:46925814 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.2776dup (p.Glu926fs) |
duplication |
not provided [RCV001958503] |
Chr21:45504458..45504459 [GRCh38]
Chr21:46924372..46924373 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3216+11dup |
duplication |
not provided [RCV001884438] |
Chr21:45505976..45505977 [GRCh38]
Chr21:46925890..46925891 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3922C>G (p.Leu1308Val) |
single nucleotide variant |
not provided [RCV001992385] |
Chr21:45512300 [GRCh38]
Chr21:46932214 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2719G>A (p.Glu907Lys) |
single nucleotide variant |
not provided [RCV001901857] |
Chr21:45504046 [GRCh38]
Chr21:46923960 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2923C>A (p.Pro975Thr) |
single nucleotide variant |
not provided [RCV001923928] |
Chr21:45505188 [GRCh38]
Chr21:46925102 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_194255.4(SLC19A1):c.460G>A (p.Gly154Ser) |
single nucleotide variant |
not provided [RCV001917931] |
Chr21:45531878 [GRCh38]
Chr21:46951792 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3446C>T (p.Ala1149Val) |
single nucleotide variant |
Glaucoma, primary closed-angle [RCV002486694]|not provided [RCV002014448] |
Chr21:45509552 [GRCh38]
Chr21:46929466 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3906G>A (p.Thr1302=) |
single nucleotide variant |
not provided [RCV001995766] |
Chr21:45512284 [GRCh38]
Chr21:46932198 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3796A>G (p.Arg1266Gly) |
single nucleotide variant |
not provided [RCV001997682] |
Chr21:45511213 [GRCh38]
Chr21:46931127 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2821C>G (p.Pro941Ala) |
single nucleotide variant |
not provided [RCV001960375] |
Chr21:45504509 [GRCh38]
Chr21:46924423 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3443C>A (p.Pro1148Gln) |
single nucleotide variant |
not provided [RCV001981261] |
Chr21:45509549 [GRCh38]
Chr21:46929463 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3869_3871del (p.Tyr1290del) |
deletion |
not provided [RCV001916704] |
Chr21:45512245..45512247 [GRCh38]
Chr21:46932159..46932161 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3653G>A (p.Arg1218His) |
single nucleotide variant |
not provided [RCV001918040] |
Chr21:45510221 [GRCh38]
Chr21:46930135 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2958_2966dup (p.985GPP[5]) |
duplication |
not provided [RCV001886370] |
Chr21:45505217..45505218 [GRCh38]
Chr21:46925131..46925132 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3823G>A (p.Val1275Met) |
single nucleotide variant |
not provided [RCV002014566] |
Chr21:45512201 [GRCh38]
Chr21:46932115 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NC_000021.8:g.(?_44473990)_(47865240_?)dup |
duplication |
not provided [RCV002011965] |
Chr21:44473990..47865240 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2958_2985del (p.Pro987fs) |
deletion |
not provided [RCV001931485] |
Chr21:45505214..45505241 [GRCh38]
Chr21:46925128..46925155 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3035C>T (p.Pro1012Leu) |
single nucleotide variant |
not provided [RCV001866353] |
Chr21:45505379 [GRCh38]
Chr21:46925293 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3311C>A (p.Pro1104Gln) |
single nucleotide variant |
not provided [RCV001934111] |
Chr21:45509417 [GRCh38]
Chr21:46929331 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3701T>G (p.Leu1234Arg) |
single nucleotide variant |
not provided [RCV001978866] |
Chr21:45511118 [GRCh38]
Chr21:46931032 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3337G>A (p.Ala1113Thr) |
single nucleotide variant |
not provided [RCV002016526] |
Chr21:45509443 [GRCh38]
Chr21:46929357 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3481G>A (p.Asp1161Asn) |
single nucleotide variant |
not provided [RCV001988923] |
Chr21:45509587 [GRCh38]
Chr21:46929501 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3314G>C (p.Arg1105Pro) |
single nucleotide variant |
not provided [RCV001878029] |
Chr21:45509420 [GRCh38]
Chr21:46929334 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2935G>A (p.Gly979Ser) |
single nucleotide variant |
not provided [RCV001934297] |
Chr21:45505200 [GRCh38]
Chr21:46925114 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3155T>C (p.Ile1052Thr) |
single nucleotide variant |
not provided [RCV001952362] |
Chr21:45505905 [GRCh38]
Chr21:46925819 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3337G>C (p.Ala1113Pro) |
single nucleotide variant |
not provided [RCV001980878] |
Chr21:45509443 [GRCh38]
Chr21:46929357 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2808C>G (p.Ser936Arg) |
single nucleotide variant |
not provided [RCV001885451] |
Chr21:45504496 [GRCh38]
Chr21:46924410 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3338C>T (p.Ala1113Val) |
single nucleotide variant |
not provided [RCV001876982] |
Chr21:45509444 [GRCh38]
Chr21:46929358 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3904A>G (p.Thr1302Ala) |
single nucleotide variant |
not provided [RCV001976067] |
Chr21:45512282 [GRCh38]
Chr21:46932196 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_194255.4(SLC19A1):c.971C>T (p.Ala324Val) |
single nucleotide variant |
not provided [RCV001866737] |
Chr21:45530950 [GRCh38]
Chr21:46950864 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_194255.4(SLC19A1):c.944_947dup (p.Gly317fs) |
duplication |
not provided [RCV001923655] |
Chr21:45531390..45531391 [GRCh38]
Chr21:46951304..46951305 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_194255.4(SLC19A1):c.1405G>T (p.Ala469Ser) |
single nucleotide variant |
not provided [RCV001906727] |
Chr21:45516029 [GRCh38]
Chr21:46935943 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3955G>A (p.Ala1319Thr) |
single nucleotide variant |
not provided [RCV002047685] |
Chr21:45512333 [GRCh38]
Chr21:46932247 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2799C>A (p.Phe933Leu) |
single nucleotide variant |
not provided [RCV002030360] |
Chr21:45504487 [GRCh38]
Chr21:46924401 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3301A>G (p.Asn1101Asp) |
single nucleotide variant |
not provided [RCV001923693] |
Chr21:45509407 [GRCh38]
Chr21:46929321 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3536T>C (p.Met1179Thr) |
single nucleotide variant |
not provided [RCV001998018] |
Chr21:45510104 [GRCh38]
Chr21:46930018 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3280G>A (p.Val1094Met) |
single nucleotide variant |
not provided [RCV001878449] |
Chr21:45509386 [GRCh38]
Chr21:46929300 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3036_3044del (p.1011PPG[3]) |
deletion |
not provided [RCV001922110] |
Chr21:45505378..45505386 [GRCh38]
Chr21:46925292..46925300 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3326_3328del (p.Pro1109del) |
deletion |
not provided [RCV001957339] |
Chr21:45509430..45509432 [GRCh38]
Chr21:46929344..46929346 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2800G>A (p.Gly934Ser) |
single nucleotide variant |
not provided [RCV001960176] |
Chr21:45504488 [GRCh38]
Chr21:46924402 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3106C>T (p.Arg1036Cys) |
single nucleotide variant |
not provided [RCV001923206] |
Chr21:45505856 [GRCh38]
Chr21:46925770 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2717C>T (p.Ala906Val) |
single nucleotide variant |
not provided [RCV001881150] |
Chr21:45504044 [GRCh38]
Chr21:46923958 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3790G>A (p.Val1264Ile) |
single nucleotide variant |
not provided [RCV001957459] |
Chr21:45511207 [GRCh38]
Chr21:46931121 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3206_3216+702del |
deletion |
not provided [RCV002046650] |
Chr21:45505953..45506665 [GRCh38]
Chr21:46925867..46926579 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_001379500.1(COL18A1):c.3048dup (p.Pro1017fs) |
duplication |
not provided [RCV001993363] |
Chr21:45505389..45505390 [GRCh38]
Chr21:46925303..46925304 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3862G>A (p.Glu1288Lys) |
single nucleotide variant |
not provided [RCV001939052] |
Chr21:45512240 [GRCh38]
Chr21:46932154 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3088-6C>T |
single nucleotide variant |
not provided [RCV001997284] |
Chr21:45505832 [GRCh38]
Chr21:46925746 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3250-9C>G |
single nucleotide variant |
not provided [RCV001924542] |
Chr21:45509347 [GRCh38]
Chr21:46929261 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3626G>A (p.Arg1209His) |
single nucleotide variant |
not provided [RCV002019081] |
Chr21:45510194 [GRCh38]
Chr21:46930108 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.4003A>G (p.Met1335Val) |
single nucleotide variant |
not provided [RCV002017365] |
Chr21:45512381 [GRCh38]
Chr21:46932295 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3686A>C (p.Asn1229Thr) |
single nucleotide variant |
not provided [RCV001884441] |
Chr21:45510254 [GRCh38]
Chr21:46930168 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3693+5_3693+25del |
deletion |
not provided [RCV001961248] |
Chr21:45510265..45510285 [GRCh38]
Chr21:46930179..46930199 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2767G>A (p.Glu923Lys) |
single nucleotide variant |
not provided [RCV001879034] |
Chr21:45504455 [GRCh38]
Chr21:46924369 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3044_3062del (p.Pro1015fs) |
deletion |
not provided [RCV001951891] |
Chr21:45505380..45505398 [GRCh38]
Chr21:46925294..46925312 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.2752G>A (p.Ala918Thr) |
single nucleotide variant |
not provided [RCV001933929] |
Chr21:45504440 [GRCh38]
Chr21:46924354 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3578C>T (p.Ala1193Val) |
single nucleotide variant |
not provided [RCV002050435] |
Chr21:45510146 [GRCh38]
Chr21:46930060 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2744G>A (p.Arg915Gln) |
single nucleotide variant |
not provided [RCV001955433] |
Chr21:45504432 [GRCh38]
Chr21:46924346 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3216+19G>A |
single nucleotide variant |
not provided [RCV001919482] |
Chr21:45505985 [GRCh38]
Chr21:46925899 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3200G>A (p.Gly1067Glu) |
single nucleotide variant |
not provided [RCV001934107] |
Chr21:45505950 [GRCh38]
Chr21:46925864 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2774G>A (p.Gly925Glu) |
single nucleotide variant |
not provided [RCV001881166] |
Chr21:45504462 [GRCh38]
Chr21:46924376 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3279del (p.Val1094fs) |
deletion |
not provided [RCV001915929] |
Chr21:45509380 [GRCh38]
Chr21:46929294 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.3810-3C>T |
single nucleotide variant |
not provided [RCV001922721] |
Chr21:45512185 [GRCh38]
Chr21:46932099 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3761C>T (p.Ala1254Val) |
single nucleotide variant |
Glaucoma, primary closed-angle [RCV002478116]|not provided [RCV001866453] |
Chr21:45511178 [GRCh38]
Chr21:46931092 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3845A>T (p.Asn1282Ile) |
single nucleotide variant |
not provided [RCV002015231] |
Chr21:45512223 [GRCh38]
Chr21:46932137 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_194255.4(SLC19A1):c.1265G>A (p.Arg422Gln) |
single nucleotide variant |
not provided [RCV001972310] |
Chr21:45525845 [GRCh38]
Chr21:46945759 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3536T>G (p.Met1179Arg) |
single nucleotide variant |
not provided [RCV001974207] |
Chr21:45510104 [GRCh38]
Chr21:46930018 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3835T>G (p.Ser1279Ala) |
single nucleotide variant |
not provided [RCV002048168] |
Chr21:45512213 [GRCh38]
Chr21:46932127 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2907_2966del (p.Gln973_Pro992del) |
deletion |
not provided [RCV001878500] |
Chr21:45505164..45505223 [GRCh38]
Chr21:46925078..46925137 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3597G>A (p.Ala1199=) |
single nucleotide variant |
not provided [RCV001954092] |
Chr21:45510165 [GRCh38]
Chr21:46930079 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2942A>G (p.Glu981Gly) |
single nucleotide variant |
not provided [RCV001919902] |
Chr21:45505207 [GRCh38]
Chr21:46925121 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3166G>A (p.Glu1056Lys) |
single nucleotide variant |
not provided [RCV002014632] |
Chr21:45505916 [GRCh38]
Chr21:46925830 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3199G>A (p.Gly1067Arg) |
single nucleotide variant |
not provided [RCV001904644] |
Chr21:45505949 [GRCh38]
Chr21:46925863 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_030582.4(COL18A1):c.3371_3379del (p.1118PGP[2]) |
deletion |
not provided [RCV001988770] |
Chr21:45504527..45504535 [GRCh38]
Chr21:46924441..46924449 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3932G>A (p.Gly1311Asp) |
single nucleotide variant |
not provided [RCV002011049] |
Chr21:45512310 [GRCh38]
Chr21:46932224 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3232C>G (p.Pro1078Ala) |
single nucleotide variant |
not provided [RCV002013771] |
Chr21:45507576 [GRCh38]
Chr21:46927490 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3073G>A (p.Gly1025Ser) |
single nucleotide variant |
not provided [RCV001952609] |
Chr21:45505417 [GRCh38]
Chr21:46925331 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2853C>T (p.Gly951=) |
single nucleotide variant |
not provided [RCV002169493] |
Chr21:45504541 [GRCh38]
Chr21:46924455 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2793T>C (p.Gly931=) |
single nucleotide variant |
not provided [RCV002092859] |
Chr21:45504481 [GRCh38]
Chr21:46924395 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3900G>A (p.Ser1300=) |
single nucleotide variant |
not provided [RCV002085672] |
Chr21:45512278 [GRCh38]
Chr21:46932192 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3921G>A (p.Ser1307=) |
single nucleotide variant |
not provided [RCV002107111] |
Chr21:45512299 [GRCh38]
Chr21:46932213 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3694-7C>A |
single nucleotide variant |
not provided [RCV002109984] |
Chr21:45511104 [GRCh38]
Chr21:46931018 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3246G>C (p.Gly1082=) |
single nucleotide variant |
not provided [RCV002209222] |
Chr21:45507590 [GRCh38]
Chr21:46927504 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3549C>T (p.Arg1183=) |
single nucleotide variant |
not provided [RCV002186334] |
Chr21:45510117 [GRCh38]
Chr21:46930031 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3333C>T (p.Pro1111=) |
single nucleotide variant |
not provided [RCV002126817] |
Chr21:45509439 [GRCh38]
Chr21:46929353 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3349C>A (p.Arg1117=) |
single nucleotide variant |
not provided [RCV002090696] |
Chr21:45509455 [GRCh38]
Chr21:46929369 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3903C>A (p.Ala1301=) |
single nucleotide variant |
not provided [RCV002186304] |
Chr21:45512281 [GRCh38]
Chr21:46932195 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2832A>G (p.Pro944=) |
single nucleotide variant |
not provided [RCV002189391] |
Chr21:45504520 [GRCh38]
Chr21:46924434 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3851G>A (p.Arg1284His) |
single nucleotide variant |
not provided [RCV002127372] |
Chr21:45512229 [GRCh38]
Chr21:46932143 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3531C>T (p.Gly1177=) |
single nucleotide variant |
not provided [RCV002124943] |
Chr21:45510099 [GRCh38]
Chr21:46930013 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3249+16dup |
duplication |
not provided [RCV002124753] |
Chr21:45507603..45507604 [GRCh38]
Chr21:46927517..46927518 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_194255.4(SLC19A1):c.1116C>T (p.Phe372=) |
single nucleotide variant |
not provided [RCV002167031] |
Chr21:45530805 [GRCh38]
Chr21:46950719 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3531C>A (p.Gly1177=) |
single nucleotide variant |
not provided [RCV002191301] |
Chr21:45510099 [GRCh38]
Chr21:46930013 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2684-15G>C |
single nucleotide variant |
not provided [RCV002191305] |
Chr21:45503996 [GRCh38]
Chr21:46923910 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3693+16C>T |
single nucleotide variant |
not provided [RCV002190199] |
Chr21:45510277 [GRCh38]
Chr21:46930191 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_194255.4(SLC19A1):c.696T>C (p.Pro232=) |
single nucleotide variant |
not provided [RCV002125005] |
Chr21:45531642 [GRCh38]
Chr21:46951556 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3809+14G>A |
single nucleotide variant |
not provided [RCV002087931] |
Chr21:45511240 [GRCh38]
Chr21:46931154 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3810-10C>T |
single nucleotide variant |
not provided [RCV002075368] |
Chr21:45512178 [GRCh38]
Chr21:46932092 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2997T>C (p.Pro999=) |
single nucleotide variant |
not provided [RCV002091501] |
Chr21:45505262 [GRCh38]
Chr21:46925176 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2868+15G>A |
single nucleotide variant |
not provided [RCV002148622] |
Chr21:45504571 [GRCh38]
Chr21:46924485 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3711C>T (p.Pro1237=) |
single nucleotide variant |
not provided [RCV002148212] |
Chr21:45511128 [GRCh38]
Chr21:46931042 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3255T>C (p.Asn1085=) |
single nucleotide variant |
not provided [RCV002188602] |
Chr21:45509361 [GRCh38]
Chr21:46929275 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3809+11dup |
duplication |
not provided [RCV002075142] |
Chr21:45511236..45511237 [GRCh38]
Chr21:46931150..46931151 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3852C>G (p.Arg1284=) |
single nucleotide variant |
not provided [RCV002185629] |
Chr21:45512230 [GRCh38]
Chr21:46932144 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_194255.4(SLC19A1):c.1473C>T (p.Leu491=) |
single nucleotide variant |
not provided [RCV002165082] |
Chr21:45515961 [GRCh38]
Chr21:46935875 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2901C>T (p.Pro967=) |
single nucleotide variant |
not provided [RCV002126851] |
Chr21:45505166 [GRCh38]
Chr21:46925080 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3013+13G>C |
single nucleotide variant |
not provided [RCV002128428] |
Chr21:45505291 [GRCh38]
Chr21:46925205 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3771C>T (p.Phe1257=) |
single nucleotide variant |
not provided [RCV002088843] |
Chr21:45511188 [GRCh38]
Chr21:46931102 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3216+10C>G |
single nucleotide variant |
not provided [RCV002075808] |
Chr21:45505976 [GRCh38]
Chr21:46925890 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3372C>T (p.Ser1124=) |
single nucleotide variant |
not provided [RCV002128365] |
Chr21:45509478 [GRCh38]
Chr21:46929392 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3217-13T>C |
single nucleotide variant |
not provided [RCV002168067] |
Chr21:45507548 [GRCh38]
Chr21:46927462 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_194255.4(SLC19A1):c.1536G>A (p.Gly512=) |
single nucleotide variant |
not provided [RCV002105703] |
Chr21:45515898 [GRCh38]
Chr21:46935812 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3087+14C>T |
single nucleotide variant |
not provided [RCV002170109] |
Chr21:45505445 [GRCh38]
Chr21:46925359 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3694-15C>T |
single nucleotide variant |
not provided [RCV002188145] |
Chr21:45511096 [GRCh38]
Chr21:46931010 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2727+7G>T |
single nucleotide variant |
not provided [RCV002108742] |
Chr21:45504061 [GRCh38]
Chr21:46923975 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2973C>G (p.Gly991=) |
single nucleotide variant |
not provided [RCV002147034] |
Chr21:45505238 [GRCh38]
Chr21:46925152 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3861C>A (p.Thr1287=) |
single nucleotide variant |
not provided [RCV002206531] |
Chr21:45512239 [GRCh38]
Chr21:46932153 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2684-11C>G |
single nucleotide variant |
not provided [RCV002189624] |
Chr21:45504000 [GRCh38]
Chr21:46923914 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3495+14dup |
duplication |
not provided [RCV002127286] |
Chr21:45509608..45509609 [GRCh38]
Chr21:46929522..46929523 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3303C>T (p.Asn1101=) |
single nucleotide variant |
not provided [RCV002072437] |
Chr21:45509409 [GRCh38]
Chr21:46929323 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3354A>G (p.Ala1118=) |
single nucleotide variant |
not provided [RCV002188234] |
Chr21:45509460 [GRCh38]
Chr21:46929374 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3495+13C>T |
single nucleotide variant |
not provided [RCV002190737] |
Chr21:45509614 [GRCh38]
Chr21:46929528 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3159C>T (p.Phe1053=) |
single nucleotide variant |
not provided [RCV002189588] |
Chr21:45505909 [GRCh38]
Chr21:46925823 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2883G>A (p.Glu961=) |
single nucleotide variant |
not provided [RCV002147228] |
Chr21:45505148 [GRCh38]
Chr21:46925062 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3435C>T (p.His1145=) |
single nucleotide variant |
not provided [RCV002110748] |
Chr21:45509541 [GRCh38]
Chr21:46929455 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2868+15G>C |
single nucleotide variant |
not provided [RCV002089813] |
Chr21:45504571 [GRCh38]
Chr21:46924485 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3021C>T (p.Ser1007=) |
single nucleotide variant |
not provided [RCV002107942] |
Chr21:45505365 [GRCh38]
Chr21:46925279 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_194255.4(SLC19A1):c.966C>T (p.Phe322=) |
single nucleotide variant |
not provided [RCV002091457] |
Chr21:45530955 [GRCh38]
Chr21:46950869 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3822C>T (p.Ser1274=) |
single nucleotide variant |
not provided [RCV002107235] |
Chr21:45512200 [GRCh38]
Chr21:46932114 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2869-19C>T |
single nucleotide variant |
not provided [RCV002148632] |
Chr21:45505115 [GRCh38]
Chr21:46925029 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_194255.4(SLC19A1):c.1250T>C (p.Ile417Thr) |
single nucleotide variant |
not provided [RCV002207663] |
Chr21:45525860 [GRCh38]
Chr21:46945774 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2869-15T>C |
single nucleotide variant |
not provided [RCV002090176] |
Chr21:45505119 [GRCh38]
Chr21:46925033 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3999C>T (p.Ser1333=) |
single nucleotide variant |
not provided [RCV002087274] |
Chr21:45512377 [GRCh38]
Chr21:46932291 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3447_3448delinsAA (p.Ala1149_Arg1150=) |
indel |
not provided [RCV002174759] |
Chr21:45509553..45509554 [GRCh38]
Chr21:46929467..46929468 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3264C>T (p.Ala1088=) |
single nucleotide variant |
not provided [RCV002089262] |
Chr21:45509370 [GRCh38]
Chr21:46929284 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3555C>T (p.Ala1185=) |
single nucleotide variant |
not provided [RCV002172356] |
Chr21:45510123 [GRCh38]
Chr21:46930037 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2826C>T (p.Gly942=) |
single nucleotide variant |
not provided [RCV002195800] |
Chr21:45504523 [GRCh38]
Chr21:46924437 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3496-4G>A |
single nucleotide variant |
not provided [RCV002078350] |
Chr21:45510060 [GRCh38]
Chr21:46929974 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2892G>A (p.Arg964=) |
single nucleotide variant |
not provided [RCV002215978] |
Chr21:45505157 [GRCh38]
Chr21:46925071 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2886C>T (p.Ser962=) |
single nucleotide variant |
not provided [RCV002114762] |
Chr21:45505151 [GRCh38]
Chr21:46925065 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3141C>T (p.Pro1047=) |
single nucleotide variant |
not provided [RCV002076591] |
Chr21:45505891 [GRCh38]
Chr21:46925805 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3087+18C>T |
single nucleotide variant |
not provided [RCV002134504] |
Chr21:45505449 [GRCh38]
Chr21:46925363 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3570C>T (p.Phe1190=) |
single nucleotide variant |
not provided [RCV002196291] |
Chr21:45510138 [GRCh38]
Chr21:46930052 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3216+12G>C |
single nucleotide variant |
not provided [RCV002196303] |
Chr21:45505978 [GRCh38]
Chr21:46925892 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2976C>G (p.Pro992=) |
single nucleotide variant |
not provided [RCV002092724] |
Chr21:45505241 [GRCh38]
Chr21:46925155 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3216+13T>C |
single nucleotide variant |
not provided [RCV002194777] |
Chr21:45505979 [GRCh38]
Chr21:46925893 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3216+7G>C |
single nucleotide variant |
not provided [RCV002209978] |
Chr21:45505973 [GRCh38]
Chr21:46925887 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3048G>A (p.Gly1016=) |
single nucleotide variant |
not provided [RCV002191841] |
Chr21:45505392 [GRCh38]
Chr21:46925306 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3585C>G (p.Ala1195=) |
single nucleotide variant |
not provided [RCV002091672] |
Chr21:45510153 [GRCh38]
Chr21:46930067 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3187C>T (p.Arg1063Cys) |
single nucleotide variant |
not provided [RCV002097263] |
Chr21:45505937 [GRCh38]
Chr21:46925851 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3624G>A (p.Ser1208=) |
single nucleotide variant |
not provided [RCV002116124] |
Chr21:45510192 [GRCh38]
Chr21:46930106 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2869-11G>A |
single nucleotide variant |
Glaucoma, primary closed-angle [RCV002500245]|not provided [RCV002135204] |
Chr21:45505123 [GRCh38]
Chr21:46925037 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2869-12C>T |
single nucleotide variant |
not provided [RCV002208338] |
Chr21:45505122 [GRCh38]
Chr21:46925036 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3624G>C (p.Ser1208=) |
single nucleotide variant |
not provided [RCV002212745] |
Chr21:45510192 [GRCh38]
Chr21:46930106 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3900G>C (p.Ser1300=) |
single nucleotide variant |
not provided [RCV002172821] |
Chr21:45512278 [GRCh38]
Chr21:46932192 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_194255.4(SLC19A1):c.1497C>T (p.Ser499=) |
single nucleotide variant |
not provided [RCV002134134] |
Chr21:45515937 [GRCh38]
Chr21:46935851 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2772G>A (p.Arg924=) |
single nucleotide variant |
not provided [RCV002171503] |
Chr21:45504460 [GRCh38]
Chr21:46924374 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2817C>T (p.Gly939=) |
single nucleotide variant |
not provided [RCV002126693] |
Chr21:45504505 [GRCh38]
Chr21:46924419 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3656G>A (p.Arg1219His) |
single nucleotide variant |
not provided [RCV002115207] |
Chr21:45510224 [GRCh38]
Chr21:46930138 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2985C>T (p.Pro995=) |
single nucleotide variant |
not provided [RCV002130191] |
Chr21:45505250 [GRCh38]
Chr21:46925164 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3027C>T (p.Pro1009=) |
single nucleotide variant |
not provided [RCV002112151] |
Chr21:45505371 [GRCh38]
Chr21:46925285 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3339G>A (p.Ala1113=) |
single nucleotide variant |
not provided [RCV002134185] |
Chr21:45509445 [GRCh38]
Chr21:46929359 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2832A>T (p.Pro944=) |
single nucleotide variant |
not provided [RCV002134195] |
Chr21:45504520 [GRCh38]
Chr21:46924434 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2728-8G>T |
single nucleotide variant |
not provided [RCV002116262] |
Chr21:45504408 [GRCh38]
Chr21:46924322 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3402C>T (p.Tyr1134=) |
single nucleotide variant |
not provided [RCV002213756] |
Chr21:45509508 [GRCh38]
Chr21:46929422 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3465C>T (p.Pro1155=) |
single nucleotide variant |
not provided [RCV002077553] |
Chr21:45509571 [GRCh38]
Chr21:46929485 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3495+12C>A |
single nucleotide variant |
not provided [RCV002172197] |
Chr21:45509613 [GRCh38]
Chr21:46929527 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3648C>A (p.Ile1216=) |
single nucleotide variant |
not provided [RCV002152692] |
Chr21:45510216 [GRCh38]
Chr21:46930130 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3903C>G (p.Ala1301=) |
single nucleotide variant |
not provided [RCV002186919] |
Chr21:45512281 [GRCh38]
Chr21:46932195 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3702G>A (p.Leu1234=) |
single nucleotide variant |
not provided [RCV002086606] |
Chr21:45511119 [GRCh38]
Chr21:46931033 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3479G>A (p.Arg1160His) |
single nucleotide variant |
not provided [RCV002093562] |
Chr21:45509585 [GRCh38]
Chr21:46929499 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3603C>T (p.Thr1201=) |
single nucleotide variant |
not provided [RCV002093604] |
Chr21:45510171 [GRCh38]
Chr21:46930085 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2869-8G>T |
single nucleotide variant |
not provided [RCV002171696] |
Chr21:45505126 [GRCh38]
Chr21:46925040 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3861C>T (p.Thr1287=) |
single nucleotide variant |
not provided [RCV002133728] |
Chr21:45512239 [GRCh38]
Chr21:46932153 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3414G>A (p.Pro1138=) |
single nucleotide variant |
not provided [RCV002192838] |
Chr21:45509520 [GRCh38]
Chr21:46929434 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3087+19G>A |
single nucleotide variant |
not provided [RCV002149087] |
Chr21:45505450 [GRCh38]
Chr21:46925364 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3453C>T (p.Pro1151=) |
single nucleotide variant |
not provided [RCV002213961] |
Chr21:45509559 [GRCh38]
Chr21:46929473 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3960C>T (p.Ser1320=) |
single nucleotide variant |
not provided [RCV002151049] |
Chr21:45512338 [GRCh38]
Chr21:46932252 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3696C>T (p.Asp1232=) |
single nucleotide variant |
not provided [RCV002134241] |
Chr21:45511113 [GRCh38]
Chr21:46931027 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3126G>A (p.Gln1042=) |
single nucleotide variant |
not provided [RCV002085159] |
Chr21:45505876 [GRCh38]
Chr21:46925790 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_194255.4(SLC19A1):c.261C>T (p.Thr87=) |
single nucleotide variant |
not provided [RCV002209782] |
Chr21:45532077 [GRCh38]
Chr21:46951991 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_194255.4(SLC19A1):c.1531G>T (p.Val511Leu) |
single nucleotide variant |
not provided [RCV002133592] |
Chr21:45515903 [GRCh38]
Chr21:46935817 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3420C>T (p.His1140=) |
single nucleotide variant |
not provided [RCV002193710] |
Chr21:45509526 [GRCh38]
Chr21:46929440 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2973C>T (p.Gly991=) |
single nucleotide variant |
not provided [RCV002093617] |
Chr21:45505238 [GRCh38]
Chr21:46925152 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3088-18T>C |
single nucleotide variant |
not provided [RCV002173227] |
Chr21:45505820 [GRCh38]
Chr21:46925734 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3336C>T (p.Thr1112=) |
single nucleotide variant |
Glaucoma, primary closed-angle [RCV002486987]|not provided [RCV002193252] |
Chr21:45509442 [GRCh38]
Chr21:46929356 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3585C>T (p.Ala1195=) |
single nucleotide variant |
not provided [RCV002114456] |
Chr21:45510153 [GRCh38]
Chr21:46930067 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3189C>T (p.Arg1063=) |
single nucleotide variant |
not provided [RCV002151326] |
Chr21:45505939 [GRCh38]
Chr21:46925853 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3789C>T (p.Asp1263=) |
single nucleotide variant |
not provided [RCV002151982] |
Chr21:45511206 [GRCh38]
Chr21:46931120 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2728-9C>T |
single nucleotide variant |
not provided [RCV002173820] |
Chr21:45504407 [GRCh38]
Chr21:46924321 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_194255.4(SLC19A1):c.1413C>A (p.Gly471=) |
single nucleotide variant |
not provided [RCV002196314] |
Chr21:45516021 [GRCh38]
Chr21:46935935 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2868+12C>A |
single nucleotide variant |
not provided [RCV002075750] |
Chr21:45504568 [GRCh38]
Chr21:46924482 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2880A>G (p.Gly960=) |
single nucleotide variant |
not provided [RCV002112211] |
Chr21:45505145 [GRCh38]
Chr21:46925059 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2979_2987dup (p.985GPP[5]) |
duplication |
not provided [RCV002195863] |
Chr21:45505238..45505239 [GRCh38]
Chr21:46925152..46925153 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3846C>T (p.Asn1282=) |
single nucleotide variant |
not provided [RCV002150119] |
Chr21:45512224 [GRCh38]
Chr21:46932138 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3249+15T>C |
single nucleotide variant |
not provided [RCV002134735] |
Chr21:45507608 [GRCh38]
Chr21:46927522 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3810-14G>A |
single nucleotide variant |
not provided [RCV002134094] |
Chr21:45512174 [GRCh38]
Chr21:46932088 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2728-15T>C |
single nucleotide variant |
not provided [RCV002212025] |
Chr21:45504401 [GRCh38]
Chr21:46924315 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2684-20C>T |
single nucleotide variant |
not provided [RCV002131855] |
Chr21:45503991 [GRCh38]
Chr21:46923905 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3312G>A (p.Pro1104=) |
single nucleotide variant |
not provided [RCV002219933] |
Chr21:45509418 [GRCh38]
Chr21:46929332 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2904C>G (p.Gly968=) |
single nucleotide variant |
not provided [RCV002199472] |
Chr21:45505169 [GRCh38]
Chr21:46925083 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2799C>T (p.Phe933=) |
single nucleotide variant |
not provided [RCV002139116] |
Chr21:45504487 [GRCh38]
Chr21:46924401 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3957G>A (p.Ala1319=) |
single nucleotide variant |
not provided [RCV002117598] |
Chr21:45512335 [GRCh38]
Chr21:46932249 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2814C>A (p.Pro938=) |
single nucleotide variant |
not provided [RCV002197872] |
Chr21:45504502 [GRCh38]
Chr21:46924416 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3672C>T (p.Ala1224=) |
single nucleotide variant |
not provided [RCV002218514] |
Chr21:45510240 [GRCh38]
Chr21:46930154 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3810-9G>A |
single nucleotide variant |
not provided [RCV002175352] |
Chr21:45512179 [GRCh38]
Chr21:46932093 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2814C>T (p.Pro938=) |
single nucleotide variant |
not provided [RCV002119406] |
Chr21:45504502 [GRCh38]
Chr21:46924416 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3809+10C>T |
single nucleotide variant |
not provided [RCV002198078] |
Chr21:45511236 [GRCh38]
Chr21:46931150 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3279C>T (p.Pro1093=) |
single nucleotide variant |
not provided [RCV002121601] |
Chr21:45509385 [GRCh38]
Chr21:46929299 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2869-4G>A |
single nucleotide variant |
not provided [RCV002175855] |
Chr21:45505130 [GRCh38]
Chr21:46925044 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3127G>A (p.Val1043Met) |
single nucleotide variant |
not provided [RCV002135967] |
Chr21:45505877 [GRCh38]
Chr21:46925791 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3879G>A (p.Thr1293=) |
single nucleotide variant |
not provided [RCV002082081] |
Chr21:45512257 [GRCh38]
Chr21:46932171 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_194255.4(SLC19A1):c.972G>A (p.Ala324=) |
single nucleotide variant |
not provided [RCV002137940] |
Chr21:45530949 [GRCh38]
Chr21:46950863 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3250-9C>T |
single nucleotide variant |
not provided [RCV002118442] |
Chr21:45509347 [GRCh38]
Chr21:46929261 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3014-4G>A |
single nucleotide variant |
not provided [RCV002122094] |
Chr21:45505354 [GRCh38]
Chr21:46925268 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3190G>A (p.Val1064Met) |
single nucleotide variant |
not provided [RCV002122345] |
Chr21:45505940 [GRCh38]
Chr21:46925854 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3087+8T>A |
single nucleotide variant |
not provided [RCV002176256] |
Chr21:45505439 [GRCh38]
Chr21:46925353 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3705G>C (p.Leu1235=) |
single nucleotide variant |
not provided [RCV002202386] |
Chr21:45511122 [GRCh38]
Chr21:46931036 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3633G>A (p.Gln1211=) |
single nucleotide variant |
not provided [RCV002182172] |
Chr21:45510201 [GRCh38]
Chr21:46930115 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3630G>A (p.Leu1210=) |
single nucleotide variant |
not provided [RCV002217826] |
Chr21:45510198 [GRCh38]
Chr21:46930112 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_194255.4(SLC19A1):c.950-14C>T |
single nucleotide variant |
not provided [RCV002155303] |
Chr21:45530985 [GRCh38]
Chr21:46950899 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3450A>C (p.Arg1150=) |
single nucleotide variant |
not provided [RCV002140670] |
Chr21:45509556 [GRCh38]
Chr21:46929470 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3249+9C>A |
single nucleotide variant |
not provided [RCV002142622] |
Chr21:45507602 [GRCh38]
Chr21:46927516 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3496-17C>G |
single nucleotide variant |
not provided [RCV002181081] |
Chr21:45510047 [GRCh38]
Chr21:46929961 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3927G>T (p.Leu1309=) |
single nucleotide variant |
not provided [RCV002216537] |
Chr21:45512305 [GRCh38]
Chr21:46932219 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_194255.4(SLC19A1):c.837C>T (p.Ala279=) |
single nucleotide variant |
not provided [RCV002203729] |
Chr21:45531501 [GRCh38]
Chr21:46951415 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.2869-8G>A |
single nucleotide variant |
not provided [RCV002198017] |
Chr21:45505126 [GRCh38]
Chr21:46925040 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2784G>A (p.Gly928=) |
single nucleotide variant |
not provided [RCV002100038] |
Chr21:45504472 [GRCh38]
Chr21:46924386 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3087+18C>A |
single nucleotide variant |
not provided [RCV002163363] |
Chr21:45505449 [GRCh38]
Chr21:46925363 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3834C>T (p.Gly1278=) |
single nucleotide variant |
not provided [RCV002143158] |
Chr21:45512212 [GRCh38]
Chr21:46932126 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3810-15C>T |
single nucleotide variant |
not provided [RCV002175682] |
Chr21:45512173 [GRCh38]
Chr21:46932087 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3984C>G (p.Leu1328=) |
single nucleotide variant |
not provided [RCV002156948] |
Chr21:45512362 [GRCh38]
Chr21:46932276 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3249+16del |
deletion |
not provided [RCV002219637] |
Chr21:45507604 [GRCh38]
Chr21:46927518 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3648C>T (p.Ile1216=) |
single nucleotide variant |
not provided [RCV002142315] |
Chr21:45510216 [GRCh38]
Chr21:46930130 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2868+8C>A |
single nucleotide variant |
not provided [RCV002162616] |
Chr21:45504564 [GRCh38]
Chr21:46924478 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2829C>T (p.Pro943=) |
single nucleotide variant |
not provided [RCV002099291] |
Chr21:45504526 [GRCh38]
Chr21:46924440 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3496-12C>T |
single nucleotide variant |
not provided [RCV002161201] |
Chr21:45510052 [GRCh38]
Chr21:46929966 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3810-19G>A |
single nucleotide variant |
not provided [RCV002142562] |
Chr21:45512169 [GRCh38]
Chr21:46932083 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3120G>A (p.Leu1040=) |
single nucleotide variant |
not provided [RCV002164570] |
Chr21:45505870 [GRCh38]
Chr21:46925784 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3755C>T (p.Pro1252Leu) |
single nucleotide variant |
not provided [RCV002204652] |
Chr21:45511172 [GRCh38]
Chr21:46931086 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2955C>G (p.Gly985=) |
single nucleotide variant |
not provided [RCV002162631] |
Chr21:45505220 [GRCh38]
Chr21:46925134 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2928C>T (p.Pro976=) |
single nucleotide variant |
not provided [RCV002099759] |
Chr21:45505193 [GRCh38]
Chr21:46925107 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3039C>T (p.Gly1013=) |
single nucleotide variant |
not provided [RCV002157600] |
Chr21:45505383 [GRCh38]
Chr21:46925297 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2684-17C>G |
single nucleotide variant |
not provided [RCV002142279] |
Chr21:45503994 [GRCh38]
Chr21:46923908 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3756C>T (p.Pro1252=) |
single nucleotide variant |
not provided [RCV002119549] |
Chr21:45511173 [GRCh38]
Chr21:46931087 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3216+18C>T |
single nucleotide variant |
not provided [RCV002122933] |
Chr21:45505984 [GRCh38]
Chr21:46925898 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3582G>A (p.Arg1194=) |
single nucleotide variant |
not provided [RCV002142537] |
Chr21:45510150 [GRCh38]
Chr21:46930064 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3993G>A (p.Glu1331=) |
single nucleotide variant |
not provided [RCV002182589] |
Chr21:45512371 [GRCh38]
Chr21:46932285 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2684-14TC[5] |
microsatellite |
not provided [RCV002201761] |
Chr21:45503996..45503997 [GRCh38]
Chr21:46923910..46923911 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2976C>T (p.Pro992=) |
single nucleotide variant |
not provided [RCV002081728] |
Chr21:45505241 [GRCh38]
Chr21:46925155 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3694-15_3694-14insA |
insertion |
not provided [RCV002123067] |
Chr21:45511096..45511097 [GRCh38]
Chr21:46931010..46931011 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2934C>T (p.Ile978=) |
single nucleotide variant |
not provided [RCV002083802] |
Chr21:45505199 [GRCh38]
Chr21:46925113 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3405C>T (p.Pro1135=) |
single nucleotide variant |
not provided [RCV002103897] |
Chr21:45509511 [GRCh38]
Chr21:46929425 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2940C>T (p.Tyr980=) |
single nucleotide variant |
not provided [RCV002200637] |
Chr21:45505205 [GRCh38]
Chr21:46925119 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2754A>C (p.Ala918=) |
single nucleotide variant |
not provided [RCV002219377] |
Chr21:45504442 [GRCh38]
Chr21:46924356 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_194255.4(SLC19A1):c.1406C>T (p.Ala469Val) |
single nucleotide variant |
not provided [RCV002158592] |
Chr21:45516028 [GRCh38]
Chr21:46935942 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3013+16G>A |
single nucleotide variant |
not provided [RCV002198786] |
Chr21:45505294 [GRCh38]
Chr21:46925208 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3888G>A (p.Thr1296=) |
single nucleotide variant |
not provided [RCV002102833] |
Chr21:45512266 [GRCh38]
Chr21:46932180 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3291G>A (p.Leu1097=) |
single nucleotide variant |
not provided [RCV002141612] |
Chr21:45509397 [GRCh38]
Chr21:46929311 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2966_2967insTCCAGGCCC (p.985GPP[5]) |
insertion |
not provided [RCV002178514] |
Chr21:45505226..45505227 [GRCh38]
Chr21:46925140..46925141 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2727+8A>T |
single nucleotide variant |
not provided [RCV002180079] |
Chr21:45504062 [GRCh38]
Chr21:46923976 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3250-16C>T |
single nucleotide variant |
not provided [RCV002158944] |
Chr21:45509340 [GRCh38]
Chr21:46929254 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3216+7G>A |
single nucleotide variant |
not provided [RCV002124030] |
Chr21:45505973 [GRCh38]
Chr21:46925887 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2710T>C (p.Leu904=) |
single nucleotide variant |
not provided [RCV002160526] |
Chr21:45504037 [GRCh38]
Chr21:46923951 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3930G>A (p.Gly1310=) |
single nucleotide variant |
not provided [RCV002138767] |
Chr21:45512308 [GRCh38]
Chr21:46932222 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3249+9C>T |
single nucleotide variant |
not provided [RCV002082961] |
Chr21:45507602 [GRCh38]
Chr21:46927516 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3240A>C (p.Pro1080=) |
single nucleotide variant |
not provided [RCV002218198] |
Chr21:45507584 [GRCh38]
Chr21:46927498 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2796C>T (p.Phe932=) |
single nucleotide variant |
not provided [RCV002157987] |
Chr21:45504484 [GRCh38]
Chr21:46924398 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3954C>T (p.Ala1318=) |
single nucleotide variant |
not provided [RCV002220758] |
Chr21:45512332 [GRCh38]
Chr21:46932246 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3694-15_3694-14insAT |
insertion |
not provided [RCV002154443] |
Chr21:45511096..45511097 [GRCh38]
Chr21:46931010..46931011 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2820C>T (p.Pro940=) |
single nucleotide variant |
not provided [RCV002183688] |
Chr21:45504508 [GRCh38]
Chr21:46924422 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3693+12C>T |
single nucleotide variant |
not provided [RCV002175835] |
Chr21:45510273 [GRCh38]
Chr21:46930187 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3780C>T (p.Asp1260=) |
single nucleotide variant |
not provided [RCV002098528] |
Chr21:45511197 [GRCh38]
Chr21:46931111 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2979_2987del (p.985GPP[3]) |
deletion |
not provided [RCV002123746] |
Chr21:45505239..45505247 [GRCh38]
Chr21:46925153..46925161 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_001379500.1(COL18A1):c.3013+14G>T |
single nucleotide variant |
not provided [RCV002184013] |
Chr21:45505292 [GRCh38]
Chr21:46925206 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3660C>T (p.Ala1220=) |
single nucleotide variant |
not provided [RCV002136327] |
Chr21:45510228 [GRCh38]
Chr21:46930142 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2684-7C>T |
single nucleotide variant |
not provided [RCV002138481] |
Chr21:45504004 [GRCh38]
Chr21:46923918 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3171G>A (p.Gln1057=) |
single nucleotide variant |
not provided [RCV002160261] |
Chr21:45505921 [GRCh38]
Chr21:46925835 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3496-19C>T |
single nucleotide variant |
not provided [RCV002123883] |
Chr21:45510045 [GRCh38]
Chr21:46929959 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3694-14G>A |
single nucleotide variant |
not provided [RCV002136545] |
Chr21:45511097 [GRCh38]
Chr21:46931011 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2943G>A (p.Glu981=) |
single nucleotide variant |
not provided [RCV002220035] |
Chr21:45505208 [GRCh38]
Chr21:46925122 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3496-16G>A |
single nucleotide variant |
not provided [RCV002158681] |
Chr21:45510048 [GRCh38]
Chr21:46929962 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2869-9C>T |
single nucleotide variant |
not provided [RCV002122282] |
Chr21:45505125 [GRCh38]
Chr21:46925039 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.3087+15A>C |
single nucleotide variant |
not provided [RCV002120880] |
Chr21:45505446 [GRCh38]
Chr21:46925360 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_001379500.1(COL18A1):c.2684-14TC[3] |
microsatellite |
not provided [RCV002159188] |
Chr21:45503997..45503998 [GRCh38]
Chr21:46923911..46923912 [GRCh37]
Chr21:21q22.3 |
likely benign |
| GRCh37/hg19 21q22.3(chr21:45808650-47529568)x1 |
copy number loss |
not provided [RCV002291533] |
Chr21:45808650..47529568 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| GRCh37/hg19 21q22.3(chr21:42679089-48097372) |
copy number loss |
Delayed speech and language development [RCV002280704] |
Chr21:42679089..48097372 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_001379500.1(COL18A1):c.2797T>C (p.Phe933Leu) |
single nucleotide variant |
not provided [RCV002299152] |
Chr21:45504485 [GRCh38]
Chr21:46924399 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.2869G>A (p.Gly957Ser) |
single nucleotide variant |
not provided [RCV002295998] |
Chr21:45505134 [GRCh38]
Chr21:46925048 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3325C>A (p.Pro1109Thr) |
single nucleotide variant |
not provided [RCV002299527] |
Chr21:45509431 [GRCh38]
Chr21:46929345 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3062C>G (p.Pro1021Arg) |
single nucleotide variant |
not provided [RCV002308944] |
Chr21:45505406 [GRCh38]
Chr21:46925320 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001379500.1(COL18A1):c.3146G>C (p.Gly1049Ala) |
single nucleotide variant |
not provided [RCV002303075] |
Chr21:45505896 [GRCh38]
Chr21:46925810 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q22.3(chr21:46882064-47963149)x3 |
copy number gain |
not provided [RCV002475631] |
Chr21:46882064..47963149 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
