| NM_019032.6(ADAMTSL4):c.79-1G>A |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000032752] |
Chr1:150552897 [GRCh38]
Chr1:150525373 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) |
deletion |
Craniosynostosis with ectopia lentis [RCV002243679]|Ectopia lentis 2, isolated, autosomal recessive [RCV000032754]|Ectopia lentis [RCV000844602]|Ectopia lentis et pupillae [RCV000032753]|Ectopia lentis et pupillae [RCV002504853]|not provided [RCV000336254] |
Chr1:150553750..150553769 [GRCh38]
Chr1:150526234..150526253 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.826_836del (p.Arg276fs) |
deletion |
Ectopia lentis 2, isolated, autosomal recessive [RCV000032755]|Ectopia lentis et pupillae [RCV000032756] |
Chr1:150553816..150553826 [GRCh38]
Chr1:150526292..150526302 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.239del (p.Pro80fs) |
deletion |
Ectopia lentis 2, isolated, autosomal recessive [RCV000032758] |
Chr1:150553056 [GRCh38]
Chr1:150525532 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2270dup (p.Gly758fs) |
duplication |
Ectopia lentis 2, isolated, autosomal recessive [RCV002466415]|Ectopia lentis et pupillae [RCV000032759]|not provided [RCV000485448] |
Chr1:150558029..150558030 [GRCh38]
Chr1:150530505..150530506 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1785T>G (p.Tyr595Ter) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000001414]|not provided [RCV001390397] |
Chr1:150556974 [GRCh38]
Chr1:150529450 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000032757]|Ectopia lentis et pupillae [RCV001281006]|Ectopia lentis et pupillae [RCV003338388]|not provided [RCV001731326] |
Chr1:150557296 [GRCh38]
Chr1:150529772 [GRCh37]
Chr1:1q21.2 |
pathogenic|likely pathogenic |
| NM_019032.6(ADAMTSL4):c.1379G>A (p.Gly460Asp) |
single nucleotide variant |
not provided [RCV002580739] |
Chr1:150556169 [GRCh38]
Chr1:150528645 [GRCh37]
Chr1:148795269 [NCBI36]
Chr1:1q21.2 |
uncertain significance|not provided |
| NM_019032.6(ADAMTSL4):c.2305C>G (p.Leu769Val) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000362590]|Ectopia lentis et pupillae [RCV003338539]|not provided [RCV001689966] |
Chr1:150558072 [GRCh38]
Chr1:150530548 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| GRCh38/hg38 1q21.2(chr1:150214843-150565007)x3 |
copy number gain |
See cases [RCV000138735] |
Chr1:150214843..150565007 [GRCh38]
Chr1:150187139..150537483 [GRCh37]
Chr1:148453763..148804107 [NCBI36]
Chr1:1q21.2 |
likely benign |
| GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 |
copy number gain |
See cases [RCV000143515] |
Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.*333G>A |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000260262] |
Chr1:150560529 [GRCh38]
Chr1:150533005 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.130G>A (p.Glu44Lys) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000388569]|Ectopia lentis et pupillae [RCV003338520]|not provided [RCV001636849] |
Chr1:150552949 [GRCh38]
Chr1:150525425 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_019032.6(ADAMTSL4):c.2703C>T (p.Arg901=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000389068]|not provided [RCV002519391] |
Chr1:150559105 [GRCh38]
Chr1:150531581 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1032C>T (p.Asn344=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000390112]|not provided [RCV000918417] |
Chr1:150554023 [GRCh38]
Chr1:150526499 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2882C>T (p.Ala961Val) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000395148] |
Chr1:150559405 [GRCh38]
Chr1:150531881 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2963G>C (p.Gly988Ala) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000395166]|Ectopia lentis et pupillae [RCV003338547]|not provided [RCV001859748] |
Chr1:150559780 [GRCh38]
Chr1:150532256 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.749G>A (p.Arg250Gln) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000397525]|Inborn genetic diseases [RCV002519386]|not provided [RCV000893503] |
Chr1:150553740 [GRCh38]
Chr1:150526216 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.3179G>A (p.Arg1060His) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000400429]|Ectopia lentis et pupillae [RCV003338549]|not provided [RCV000922949] |
Chr1:150560150 [GRCh38]
Chr1:150532626 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2178-7C>A |
single nucleotide variant |
Ectopia lentis [RCV000400482]|not provided [RCV002522057] |
Chr1:150557938 [GRCh38]
Chr1:150530414 [GRCh37]
Chr1:1q21.2 |
benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.*276G>A |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000263640] |
Chr1:150560472 [GRCh38]
Chr1:150532948 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1007G>A (p.Gly336Asp) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000302682]|Ectopia lentis et pupillae [RCV003338525]|not provided [RCV000958486] |
Chr1:150553998 [GRCh38]
Chr1:150526474 [GRCh37]
Chr1:1q21.2 |
benign|likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2087C>T (p.Ser696Leu) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000297524]|Ectopia lentis et pupillae [RCV001281005]|not provided [RCV000967919] |
Chr1:150557533 [GRCh38]
Chr1:150530009 [GRCh37]
Chr1:1q21.2 |
benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.232C>T (p.Leu78Phe) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000294076]|Ectopia lentis et pupillae [RCV003338521]|not provided [RCV001859744] |
Chr1:150553051 [GRCh38]
Chr1:150525527 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2795G>A (p.Arg932His) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000295340]|Ectopia lentis et pupillae [RCV003338545]|not provided [RCV001850488] |
Chr1:150559318 [GRCh38]
Chr1:150531794 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.87C>T (p.Ser29=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000260640]|not provided [RCV002519384] |
Chr1:150552906 [GRCh38]
Chr1:150525382 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1268G>A (p.Arg423Gln) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000273455]|Ectopia lentis et pupillae [RCV003338530]|not provided [RCV002059327] |
Chr1:150555462 [GRCh38]
Chr1:150527938 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2883C>G (p.Ala961=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000291780]|not provided [RCV000971253] |
Chr1:150559406 [GRCh38]
Chr1:150531882 [GRCh37]
Chr1:1q21.2 |
benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1131G>A (p.Ala377=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000276952]|Ectopia lentis et pupillae [RCV003338528]|not provided [RCV002519387] |
Chr1:150554122 [GRCh38]
Chr1:150526598 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1777G>A (p.Val593Ile) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000285929]|Ectopia lentis et pupillae [RCV003338534]|not provided [RCV002519389] |
Chr1:150556966 [GRCh38]
Chr1:150529442 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.920G>A (p.Arg307Gln) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000287327]|Ectopia lentis et pupillae [RCV003338523]|not provided [RCV000903253] |
Chr1:150553911 [GRCh38]
Chr1:150526387 [GRCh37]
Chr1:1q21.2 |
benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2580G>A (p.Thr860=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000279410]|Ectopia lentis et pupillae [RCV003338543]|not provided [RCV002059331] |
Chr1:150558982 [GRCh38]
Chr1:150531458 [GRCh37]
Chr1:1q21.2 |
benign|likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2392C>T (p.Arg798Trp) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000267987]|Ectopia lentis et pupillae [RCV003338540]|not provided [RCV001850486] |
Chr1:150558482 [GRCh38]
Chr1:150530958 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1862-11C>T |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000282252]|not provided [RCV002061152] |
Chr1:150557139 [GRCh38]
Chr1:150529615 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1555C>T (p.Arg519Trp) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000270093]|Ectopia lentis et pupillae [RCV003338533]|not provided [RCV002522056] |
Chr1:150556345 [GRCh38]
Chr1:150528821 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2288C>G (p.Pro763Arg) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000271578]|Ectopia lentis et pupillae [RCV003338538]|not provided [RCV000907392] |
Chr1:150558055 [GRCh38]
Chr1:150530531 [GRCh37]
Chr1:1q21.2 |
benign|likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1776C>T (p.Gly592=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000379791]|not provided [RCV001859747] |
Chr1:150556965 [GRCh38]
Chr1:150529441 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1534C>T (p.Arg512Trp) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000383145]|Ectopia lentis et pupillae [RCV003338532]|not provided [RCV002519388] |
Chr1:150556324 [GRCh38]
Chr1:150528800 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.531C>T (p.Ser177=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000384841]|not provided [RCV002059325] |
Chr1:150553522 [GRCh38]
Chr1:150525998 [GRCh37]
Chr1:1q21.2 |
benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2265G>T (p.Gly755=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000366121] |
Chr1:150558032 [GRCh38]
Chr1:150530508 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1159C>G (p.Arg387Gly) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000367932]|Ectopia lentis et pupillae [RCV003338529]|not provided [RCV002522055] |
Chr1:150554392 [GRCh38]
Chr1:150526868 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2559+9G>A |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000373920]|Ectopia lentis et pupillae [RCV002059329]|not provided [RCV002059330] |
Chr1:150558658 [GRCh38]
Chr1:150531134 [GRCh37]
Chr1:1q21.2 |
benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1861+13C>T |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000376791]|Ectopia lentis et pupillae [RCV003338536]|not provided [RCV002059328] |
Chr1:150557063 [GRCh38]
Chr1:150529539 [GRCh37]
Chr1:1q21.2 |
benign|uncertain significance |
| GRCh37/hg19 1q21.3(chr1:150531540-150679158)x3 |
copy number gain |
Ductal breast carcinoma [RCV000207143] |
Chr1:150531540..150679158 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV000223957] |
Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2512A>G (p.Met838Val) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000319145]|Ectopia lentis et pupillae [RCV003338542]|not provided [RCV000838724] |
Chr1:150558602 [GRCh38]
Chr1:150531078 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_019032.6(ADAMTSL4):c.2944-8C>T |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000346565]|not provided [RCV002522058] |
Chr1:150559753 [GRCh38]
Chr1:150532229 [GRCh37]
Chr1:1q21.2 |
benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.3139C>A (p.Arg1047=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000361615]|Ectopia lentis et pupillae [RCV003338548]|not provided [RCV000969413] |
Chr1:150560110 [GRCh38]
Chr1:150532586 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_019032.6(ADAMTSL4):c.514C>T (p.Arg172Cys) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000330325]|Ectopia lentis et pupillae [RCV003338522]|Inborn genetic diseases [RCV003258738]|not provided [RCV002519385] |
Chr1:150553505 [GRCh38]
Chr1:150525981 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2223C>T (p.Pro741=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000311442]|not provided [RCV002061153] |
Chr1:150557990 [GRCh38]
Chr1:150530466 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1893G>A (p.Pro631=) |
single nucleotide variant |
Ectopia lentis [RCV000337317]|not provided [RCV001729512] |
Chr1:150557181 [GRCh38]
Chr1:150529657 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2288C>T (p.Pro763Leu) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000307941]|not provided [RCV000909489] |
Chr1:150558055 [GRCh38]
Chr1:150530531 [GRCh37]
Chr1:1q21.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1131+15G>A |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000313357] |
Chr1:150554137 [GRCh38]
Chr1:150526613 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.88G>A (p.Gly30Arg) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000333960]|Ectopia lentis et pupillae [RCV003338519]|not provided [RCV001859743] |
Chr1:150552907 [GRCh38]
Chr1:150525383 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2591G>A (p.Arg864Gln) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000334515]|Ectopia lentis et pupillae [RCV003338544]|not provided [RCV001850487] |
Chr1:150558993 [GRCh38]
Chr1:150531469 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1009G>A (p.Ala337Thr) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000338650]|Ectopia lentis et pupillae [RCV003338526]|Inborn genetic diseases [RCV003343749]|not provided [RCV001859745] |
Chr1:150554000 [GRCh38]
Chr1:150526476 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1464G>A (p.Ser488=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000328581]|Ectopia lentis et pupillae [RCV003338531]|not provided [RCV001850485] |
Chr1:150556254 [GRCh38]
Chr1:150528730 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.584C>T (p.Pro195Leu) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000345349]|not provided [RCV002059326] |
Chr1:150553575 [GRCh38]
Chr1:150526051 [GRCh37]
Chr1:1q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1860G>A (p.Pro620=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000340833]|Ectopia lentis et pupillae [RCV003338535]|not provided [RCV002519390] |
Chr1:150557049 [GRCh38]
Chr1:150529525 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.926G>A (p.Arg309Gln) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000342285]|Ectopia lentis et pupillae [RCV003338524]|not provided [RCV001610794] |
Chr1:150553917 [GRCh38]
Chr1:150526393 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_019032.6(ADAMTSL4):c.2829G>A (p.Thr943=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000350252]|Ectopia lentis et pupillae [RCV003338546]|not provided [RCV000904427] |
Chr1:150559352 [GRCh38]
Chr1:150531828 [GRCh37]
Chr1:1q21.2 |
benign|likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2121G>A (p.Ala707=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000351062]|Ectopia lentis et pupillae [RCV003338537]|not provided [RCV001590911] |
Chr1:150557567 [GRCh38]
Chr1:150530043 [GRCh37]
Chr1:1q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1118C>A (p.Ala373Asp) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000353911]|Ectopia lentis et pupillae [RCV003338527]|not provided [RCV001859746] |
Chr1:150554109 [GRCh38]
Chr1:150526585 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2427C>T (p.Arg809=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000322661]|Ectopia lentis et pupillae [RCV003338541]|not provided [RCV000894677] |
Chr1:150558517 [GRCh38]
Chr1:150530993 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_019032.6(ADAMTSL4):c.2442T>C (p.Asn814=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000377315]|Ectopia lentis et pupillae [RCV000606440]|not provided [RCV002058286]|not specified [RCV000252118] |
Chr1:150558532 [GRCh38]
Chr1:150531008 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.2906C>A (p.Ala969Asp) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001099265]|Ectopia lentis et pupillae [RCV003338486]|not provided [RCV000958475]|not specified [RCV000247459] |
Chr1:150559429 [GRCh38]
Chr1:150531905 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_019032.6(ADAMTSL4):c.577G>C (p.Ala193Pro) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000290467]|Ectopia lentis et pupillae [RCV003338487]|not provided [RCV002058288]|not specified [RCV000252416] |
Chr1:150553568 [GRCh38]
Chr1:150526044 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.2484G>A (p.Pro828=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000264056]|Ectopia lentis et pupillae [RCV000613540]|not provided [RCV002058287]|not specified [RCV000244123] |
Chr1:150558574 [GRCh38]
Chr1:150531050 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.939C>T (p.Gly313=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000397521]|Ectopia lentis et pupillae [RCV003338488]|not provided [RCV000837415]|not specified [RCV000244411] |
Chr1:150553930 [GRCh38]
Chr1:150526406 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1098G>A (p.Gly366=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000299084]|Ectopia lentis et pupillae [RCV003338485]|not provided [RCV000958846]|not specified [RCV000247181] |
Chr1:150554089 [GRCh38]
Chr1:150526565 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_019032.6(ADAMTSL4):c.*407C>T |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000334203] |
Chr1:150560603 [GRCh38]
Chr1:150533079 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.*120G>A |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000303806]|Ectopia lentis et pupillae [RCV003338550]|not provided [RCV001668634] |
Chr1:150560316 [GRCh38]
Chr1:150532792 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_019032.6(ADAMTSL4):c.*295G>C |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000319056] |
Chr1:150560491 [GRCh38]
Chr1:150532967 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.-143C>T |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000319225] |
Chr1:150549837 [GRCh38]
Chr1:150522313 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_019032.6(ADAMTSL4):c.*126G>A |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000358628] |
Chr1:150560322 [GRCh38]
Chr1:150532798 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.*670C>G |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000383083] |
Chr1:150560866 [GRCh38]
Chr1:150533342 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.*636C>A |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000292132] |
Chr1:150560832 [GRCh38]
Chr1:150533308 [GRCh37]
Chr1:1q21.2 |
benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.*640C>A |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000328516] |
Chr1:150560836 [GRCh38]
Chr1:150533312 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.-84-213G>A |
single nucleotide variant |
not provided [RCV001566069] |
Chr1:150551992 [GRCh38]
Chr1:150524468 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.647C>T (p.Pro216Leu) |
single nucleotide variant |
not provided [RCV001889180] |
Chr1:150553638 [GRCh38]
Chr1:150526114 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3026CTC[1] (p.Pro1010del) |
microsatellite |
Ectopia lentis [RCV000306962] |
Chr1:150559842..150559844 [GRCh38]
Chr1:150532318..150532320 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.*457GT[1] |
microsatellite |
Ectopia lentis [RCV000386524] |
Chr1:150560652..150560653 [GRCh38]
Chr1:150533128..150533129 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.*332A>G |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000355140] |
Chr1:150560528 [GRCh38]
Chr1:150533004 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.-100G>A |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000355471] |
Chr1:150549880 [GRCh38]
Chr1:150522356 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1750-10_1750-6del |
microsatellite |
Ectopia lentis [RCV000325158] |
Chr1:150556922..150556926 [GRCh38]
Chr1:150529398..150529402 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.*674C>T |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000288746] |
Chr1:150560870 [GRCh38]
Chr1:150533346 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NR_104133.1(ADAMTSL4-AS1):n.982A>T |
single nucleotide variant |
Ectopia lentis [RCV000285692] |
Chr1:150560949 [GRCh38]
Chr1:150533425 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1985G>A (p.Gly662Glu) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000396214] |
Chr1:150557273 [GRCh38]
Chr1:150529749 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1378G>A (p.Gly460Ser) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003338783]|Ectopia lentis et pupillae [RCV000768145]|Ectopia lentis et pupillae [RCV003338784]|not provided [RCV002533936] |
Chr1:150556168 [GRCh38]
Chr1:150528644 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2236C>T (p.Arg746Cys) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001099079]|Ectopia lentis et pupillae [RCV003339488]|not provided [RCV001873482] |
Chr1:150558003 [GRCh38]
Chr1:150530479 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2312G>A (p.Arg771Gln) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001099165]|Ectopia lentis et pupillae [RCV003339495]|not provided [RCV001856344] |
Chr1:150558079 [GRCh38]
Chr1:150530555 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2969C>T (p.Thr990Met) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001099268]|Inborn genetic diseases [RCV002535155]|not provided [RCV000963770]|not specified [RCV000730377] |
Chr1:150559786 [GRCh38]
Chr1:150532262 [GRCh37]
Chr1:1q21.2 |
benign|likely benign|uncertain significance |
| GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3 |
copy number gain |
See cases [RCV000447109] |
Chr1:143753740..151399970 [GRCh37]
Chr1:1q21.1-21.3 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003338587]|Ectopia lentis et pupillae [RCV002293436]|Ectopia lentis et pupillae [RCV002506033]|not provided [RCV000444305] |
Chr1:150558996 [GRCh38]
Chr1:150531472 [GRCh37]
Chr1:1q21.2 |
pathogenic|likely pathogenic|not provided |
| NM_019032.6(ADAMTSL4):c.421C>T (p.Arg141Ter) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003338592]|Ectopia lentis et pupillae [RCV003338593]|not provided [RCV000440699] |
Chr1:150553240 [GRCh38]
Chr1:150525716 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1355_1356del (p.Val452fs) |
microsatellite |
not provided [RCV000481299] |
Chr1:150555545..150555546 [GRCh38]
Chr1:150528021..150528022 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2375G>A (p.Trp792Ter) |
single nucleotide variant |
not provided [RCV000578617] |
Chr1:150558142 [GRCh38]
Chr1:150530618 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2168G>A (p.Cys723Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003276671] |
Chr1:150557614 [GRCh38]
Chr1:150530090 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.986A>G (p.Glu329Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003290999] |
Chr1:150553977 [GRCh38]
Chr1:150526453 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.592A>T (p.Thr198Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003292379] |
Chr1:150553583 [GRCh38]
Chr1:150526059 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2559+45C>T |
single nucleotide variant |
Ectopia lentis et pupillae [RCV001548853]|not specified [RCV000615582] |
Chr1:150558694 [GRCh38]
Chr1:150531170 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1234+90G>A |
single nucleotide variant |
Ectopia lentis et pupillae [RCV000768144] |
Chr1:150554557 [GRCh38]
Chr1:150527033 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2178-10G>T |
single nucleotide variant |
Ectopia lentis et pupillae [RCV000768146] |
Chr1:150557935 [GRCh38]
Chr1:150530411 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2560-4G>A |
single nucleotide variant |
Ectopia lentis et pupillae [RCV000768147]|not provided [RCV000897387] |
Chr1:150558958 [GRCh38]
Chr1:150531434 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2944-7G>A |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001099267]|Ectopia lentis et pupillae [RCV000768148]|not provided [RCV000950062] |
Chr1:150559754 [GRCh38]
Chr1:150532230 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2560-58T>C |
single nucleotide variant |
Ectopia lentis et pupillae [RCV001548854]|not provided [RCV001725226] |
Chr1:150558904 [GRCh38]
Chr1:150531380 [GRCh37]
Chr1:1q21.2 |
benign |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1q21.3(chr1:150455813-150526044)x1 |
copy number loss |
not provided [RCV000749185] |
Chr1:150455813..150526044 [GRCh37]
Chr1:1q21.3 |
benign |
| GRCh37/hg19 1q21.3(chr1:150529738-150549863)x3 |
copy number gain |
not provided [RCV000749186] |
Chr1:150529738..150549863 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_019032.6(ADAMTSL4):c.1234+351C>T |
single nucleotide variant |
not provided [RCV001725729] |
Chr1:150554818 [GRCh38]
Chr1:150527294 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1234+166T>C |
single nucleotide variant |
not provided [RCV001667211] |
Chr1:150554633 [GRCh38]
Chr1:150527109 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1371+169CA[3] |
microsatellite |
not provided [RCV001534342] |
Chr1:150555734..150555735 [GRCh38]
Chr1:150528210..150528211 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1234+411G>A |
single nucleotide variant |
not provided [RCV001645202] |
Chr1:150554878 [GRCh38]
Chr1:150527354 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.255T>A (p.Pro85=) |
single nucleotide variant |
not provided [RCV000980806] |
Chr1:150553074 [GRCh38]
Chr1:150525550 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2087C>A (p.Ser696Ter) |
single nucleotide variant |
not provided [RCV000760872] |
Chr1:150557533 [GRCh38]
Chr1:150530009 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1371+280_1371+281del |
deletion |
not provided [RCV001693259] |
Chr1:150555845..150555846 [GRCh38]
Chr1:150528321..150528322 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.2472G>A (p.Ala824=) |
single nucleotide variant |
not provided [RCV000903590] |
Chr1:150558562 [GRCh38]
Chr1:150531038 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.939C>G (p.Gly313=) |
single nucleotide variant |
not provided [RCV000903678] |
Chr1:150553930 [GRCh38]
Chr1:150526406 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.2040C>T (p.Cys680=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001097326]|not provided [RCV000898399] |
Chr1:150557328 [GRCh38]
Chr1:150529804 [GRCh37]
Chr1:1q21.2 |
benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1308G>A (p.Lys436=) |
single nucleotide variant |
not provided [RCV000899915] |
Chr1:150555502 [GRCh38]
Chr1:150527978 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1372-5_1372-2del |
deletion |
Ectopia lentis 2, isolated, autosomal recessive [RCV000778938] |
Chr1:150556157..150556160 [GRCh38]
Chr1:150528633..150528636 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1659del (p.Val554fs) |
deletion |
Ectopia lentis 2, isolated, autosomal recessive [RCV000778939] |
Chr1:150556702 [GRCh38]
Chr1:150529178 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2517G>A (p.Gly839=) |
single nucleotide variant |
not provided [RCV000943388] |
Chr1:150558607 [GRCh38]
Chr1:150531083 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.288C>T (p.Leu96=) |
single nucleotide variant |
not provided [RCV000931642] |
Chr1:150553107 [GRCh38]
Chr1:150525583 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.651A>G (p.Thr217=) |
single nucleotide variant |
not provided [RCV000978495] |
Chr1:150553642 [GRCh38]
Chr1:150526118 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1956C>T (p.Pro652=) |
single nucleotide variant |
not provided [RCV000919984] |
Chr1:150557244 [GRCh38]
Chr1:150529720 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2190C>T (p.Gly730=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001099078]|not provided [RCV000922874] |
Chr1:150557957 [GRCh38]
Chr1:150530433 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.622G>A (p.Gly208Ser) |
single nucleotide variant |
not provided [RCV000903570] |
Chr1:150553613 [GRCh38]
Chr1:150526089 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.2118C>T (p.Ala706=) |
single nucleotide variant |
not provided [RCV000916218] |
Chr1:150557564 [GRCh38]
Chr1:150530040 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1936G>A (p.Val646Met) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV000785000]|Ectopia lentis et pupillae [RCV003338791]|Inborn genetic diseases [RCV003307418]|not provided [RCV001856204] |
Chr1:150557224 [GRCh38]
Chr1:150529700 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.*305G>A |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001095818] |
Chr1:150560501 [GRCh38]
Chr1:150532977 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.*439C>T |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001095819] |
Chr1:150560635 [GRCh38]
Chr1:150533111 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1221G>A (p.Glu407=) |
single nucleotide variant |
not provided [RCV000939172] |
Chr1:150554454 [GRCh38]
Chr1:150526930 [GRCh37]
Chr1:1q21.2 |
likely benign |
| GRCh37/hg19 1q21.2-21.3(chr1:150270870-150527943)x3 |
copy number gain |
not provided [RCV000846255] |
Chr1:150270870..150527943 [GRCh37]
Chr1:1q21.2-21.3 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1186T>C (p.Ser396Pro) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001098991] |
Chr1:150554419 [GRCh38]
Chr1:150526895 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1130C>A (p.Ala377Glu) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001097234]|Ectopia lentis et pupillae [RCV003339475]|not provided [RCV001873472] |
Chr1:150554121 [GRCh38]
Chr1:150526597 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3020G>A (p.Arg1007Gln) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001099269]|Ectopia lentis et pupillae [RCV003339499]|not provided [RCV003106112] |
Chr1:150559837 [GRCh38]
Chr1:150532313 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2691C>G (p.Pro897=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001097412] |
Chr1:150559093 [GRCh38]
Chr1:150531569 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2293C>T (p.Arg765Cys) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001099163]|Ectopia lentis et pupillae [RCV003339493]|not provided [RCV001873483] |
Chr1:150558060 [GRCh38]
Chr1:150530536 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.162C>T (p.Ala54=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001100704]|not provided [RCV002067766] |
Chr1:150552981 [GRCh38]
Chr1:150525457 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1301C>T (p.Thr434Ile) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001100801]|Ectopia lentis et pupillae [RCV003339503]|Inborn genetic diseases [RCV003160629] |
Chr1:150555495 [GRCh38]
Chr1:150527971 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2483C>T (p.Pro828Leu) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001101156] |
Chr1:150558573 [GRCh38]
Chr1:150531049 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2559+8C>T |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001101157]|not provided [RCV002067771] |
Chr1:150558657 [GRCh38]
Chr1:150531133 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1994C>T (p.Ala665Val) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001097325] |
Chr1:150557282 [GRCh38]
Chr1:150529758 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2640G>A (p.Gln880=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001097411]|not provided [RCV002554911] |
Chr1:150559042 [GRCh38]
Chr1:150531518 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2848C>T (p.Pro950Ser) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001097507]|Ectopia lentis et pupillae [RCV003339483]|not provided [RCV001856316] |
Chr1:150559371 [GRCh38]
Chr1:150531847 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.*639C>G |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001095820] |
Chr1:150560835 [GRCh38]
Chr1:150533311 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.-236C>T |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001098884] |
Chr1:150549422 [GRCh38]
Chr1:150521898 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1396G>C (p.Gly466Arg) |
single nucleotide variant |
not provided [RCV003104597] |
Chr1:150556186 [GRCh38]
Chr1:150528662 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2416C>T (p.Arg806Trp) |
single nucleotide variant |
not provided [RCV003106545] |
Chr1:150558506 [GRCh38]
Chr1:150530982 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1234+349G>A |
single nucleotide variant |
not provided [RCV001666922] |
Chr1:150554816 [GRCh38]
Chr1:150527292 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.2047+25G>A |
single nucleotide variant |
not provided [RCV001685195] |
Chr1:150557360 [GRCh38]
Chr1:150529836 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1371+50AC[4] |
microsatellite |
not provided [RCV001612878] |
Chr1:150555614..150555615 [GRCh38]
Chr1:150528090..150528091 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.2178-147C>T |
single nucleotide variant |
not provided [RCV001557000] |
Chr1:150557798 [GRCh38]
Chr1:150530274 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1235-190C>T |
single nucleotide variant |
not provided [RCV001642179] |
Chr1:150555239 [GRCh38]
Chr1:150527715 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.-84-299del |
deletion |
not provided [RCV001640044] |
Chr1:150551892 [GRCh38]
Chr1:150524368 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.-84-299dup |
duplication |
not provided [RCV001672225] |
Chr1:150551891..150551892 [GRCh38]
Chr1:150524367..150524368 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1371+137_1371+138del |
microsatellite |
not provided [RCV001621603] |
Chr1:150555700..150555701 [GRCh38]
Chr1:150528176..150528177 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1235-276C>T |
single nucleotide variant |
not provided [RCV001621888] |
Chr1:150555153 [GRCh38]
Chr1:150527629 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.3171C>T (p.Thr1057=) |
single nucleotide variant |
not provided [RCV000955152] |
Chr1:150560142 [GRCh38]
Chr1:150532618 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.909T>C (p.Pro303=) |
single nucleotide variant |
not provided [RCV000931746] |
Chr1:150553900 [GRCh38]
Chr1:150526376 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2047+7C>T |
single nucleotide variant |
not provided [RCV000980619] |
Chr1:150557342 [GRCh38]
Chr1:150529818 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2931G>A (p.Thr977=) |
single nucleotide variant |
not provided [RCV000908741] |
Chr1:150559454 [GRCh38]
Chr1:150531930 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1577-5C>T |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001100805]|not provided [RCV002069694] |
Chr1:150556616 [GRCh38]
Chr1:150529092 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1683C>T (p.Pro561=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001101053]|not provided [RCV002556038] |
Chr1:150556727 [GRCh38]
Chr1:150529203 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.3078C>G (p.Ser1026Arg) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001101264]|Ectopia lentis et pupillae [RCV003339507]|Inborn genetic diseases [RCV002558018]|not provided [RCV001873494] |
Chr1:150559895 [GRCh38]
Chr1:150532371 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2311C>T (p.Arg771Trp) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001099164]|Ectopia lentis et pupillae [RCV003339494]|not provided [RCV001873484] |
Chr1:150558078 [GRCh38]
Chr1:150530554 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2918G>A (p.Arg973Gln) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001099266]|Ectopia lentis et pupillae [RCV003339498]|not provided [RCV001856345] |
Chr1:150559441 [GRCh38]
Chr1:150531917 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1666C>T (p.Arg556Ter) |
single nucleotide variant |
Craniosynostosis syndrome [RCV000985268]|Ectopia lentis 2, isolated, autosomal recessive [RCV002249547] |
Chr1:150556710 [GRCh38]
Chr1:150529186 [GRCh37]
Chr1:1q21.2 |
pathogenic|uncertain significance |
| NM_019032.6(ADAMTSL4):c.858C>T (p.Ser286=) |
single nucleotide variant |
not provided [RCV000933913] |
Chr1:150553849 [GRCh38]
Chr1:150526325 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.803C>T (p.Ser268Phe) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001100972]|Ectopia lentis et pupillae [RCV003338842]|not provided [RCV000890657] |
Chr1:150553794 [GRCh38]
Chr1:150526270 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_019032.6(ADAMTSL4):c.2560-135G>A |
single nucleotide variant |
not provided [RCV001549482] |
Chr1:150558827 [GRCh38]
Chr1:150531303 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1235-161A>G |
single nucleotide variant |
not provided [RCV001635660] |
Chr1:150555268 [GRCh38]
Chr1:150527744 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1371+73C>T |
single nucleotide variant |
not provided [RCV001546595] |
Chr1:150555638 [GRCh38]
Chr1:150528114 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2178-154_2178-152del |
deletion |
not provided [RCV001616025] |
Chr1:150557790..150557792 [GRCh38]
Chr1:150530266..150530268 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1371+268A>T |
single nucleotide variant |
not provided [RCV001639305] |
Chr1:150555833 [GRCh38]
Chr1:150528309 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.2178-150_2178-148del |
deletion |
not provided [RCV001617566] |
Chr1:150557795..150557797 [GRCh38]
Chr1:150530271..150530273 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1371+78AC[6] |
microsatellite |
not provided [RCV001638220] |
Chr1:150555642..150555643 [GRCh38]
Chr1:150528118..150528119 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.2560-118G>A |
single nucleotide variant |
not provided [RCV001638424] |
Chr1:150558844 [GRCh38]
Chr1:150531320 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.2251C>T (p.Arg751Trp) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001099080]|Ectopia lentis et pupillae [RCV003339489]|Inborn genetic diseases [RCV003160625]|not provided [RCV002558000] |
Chr1:150558018 [GRCh38]
Chr1:150530494 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3178C>G (p.Arg1060Gly) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001101266]|Ectopia lentis et pupillae [RCV003339509]|not provided [RCV001551987] |
Chr1:150560149 [GRCh38]
Chr1:150532625 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_019032.6(ADAMTSL4):c.1388G>C (p.Gly463Ala) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001100802]|Ectopia lentis et pupillae [RCV003339504]|not provided [RCV002554967] |
Chr1:150556178 [GRCh38]
Chr1:150528654 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1551G>C (p.Gln517His) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001100804] |
Chr1:150556341 [GRCh38]
Chr1:150528817 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1676G>A (p.Arg559His) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001101052] |
Chr1:150556720 [GRCh38]
Chr1:150529196 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2457C>T (p.Ser819=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001101155]|not provided [RCV001856375] |
Chr1:150558547 [GRCh38]
Chr1:150531023 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.3083G>A (p.Arg1028His) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001101265]|Ectopia lentis et pupillae [RCV003339508]|not provided [RCV001574993] |
Chr1:150559900 [GRCh38]
Chr1:150532376 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_019032.6(ADAMTSL4):c.1371+167C>T |
single nucleotide variant |
not provided [RCV001725730] |
Chr1:150555732 [GRCh38]
Chr1:150528208 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1132-54C>A |
single nucleotide variant |
not provided [RCV001724952] |
Chr1:150554311 [GRCh38]
Chr1:150526787 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.2943+17G>A |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339693]|Ectopia lentis et pupillae [RCV003339694]|not provided [RCV001645045] |
Chr1:150559483 [GRCh38]
Chr1:150531959 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1234+448T>C |
single nucleotide variant |
not provided [RCV001667566] |
Chr1:150554915 [GRCh38]
Chr1:150527391 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.2254C>T (p.Gln752Ter) |
single nucleotide variant |
not provided [RCV001579605] |
Chr1:150558021 [GRCh38]
Chr1:150530497 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2279C>T (p.Ser760Leu) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001099081]|Ectopia lentis et pupillae [RCV003339490]|Inborn genetic diseases [RCV003283977]|not provided [RCV001856343] |
Chr1:150558046 [GRCh38]
Chr1:150530522 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2157C>T (p.His719=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001099077]|not provided [RCV002069665] |
Chr1:150557603 [GRCh38]
Chr1:150530079 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1000C>G (p.His334Asp) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001097233] |
Chr1:150553991 [GRCh38]
Chr1:150526467 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2120C>T (p.Ala707Val) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001097329]|not provided [RCV001759865] |
Chr1:150557566 [GRCh38]
Chr1:150530042 [GRCh37]
Chr1:1q21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2839G>A (p.Val947Met) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001097506]|Ectopia lentis et pupillae [RCV002069647]|Ectopia lentis et pupillae [RCV003339482]|not provided [RCV002555996] |
Chr1:150559362 [GRCh38]
Chr1:150531838 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2849C>T (p.Pro950Leu) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001097508]|Ectopia lentis et pupillae [RCV003339484]|not provided [RCV002554912] |
Chr1:150559372 [GRCh38]
Chr1:150531848 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1142C>G (p.Pro381Arg) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001098988]|Inborn genetic diseases [RCV003160624]|not provided [RCV001873481] |
Chr1:150554375 [GRCh38]
Chr1:150526851 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1160G>A (p.Arg387Gln) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001098989] |
Chr1:150554393 [GRCh38]
Chr1:150526869 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.292C>T (p.Arg98Trp) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001100705]|not provided [RCV002069692] |
Chr1:150553111 [GRCh38]
Chr1:150525587 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1892C>T (p.Pro631Leu) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001101054]|Ectopia lentis et pupillae [RCV003339505]|Inborn genetic diseases [RCV002558016]|not provided [RCV001856371] |
Chr1:150557180 [GRCh38]
Chr1:150529656 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1419C>T (p.Gly473=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001100803]|not provided [RCV002554968] |
Chr1:150556209 [GRCh38]
Chr1:150528685 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2442T>G (p.Asn814Lys) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339426]|Ectopia lentis et pupillae [RCV001027770]|Ectopia lentis et pupillae [RCV003339427]|not provided [RCV002552427] |
Chr1:150558532 [GRCh38]
Chr1:150531008 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2080C>T (p.Arg694Cys) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001097327]|Ectopia lentis et pupillae [RCV003339476]|not provided [RCV001856314] |
Chr1:150557526 [GRCh38]
Chr1:150530002 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2107C>T (p.Arg703Cys) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001097328]|Ectopia lentis et pupillae [RCV003339477]|Inborn genetic diseases [RCV003160619]|not provided [RCV001856315] |
Chr1:150557553 [GRCh38]
Chr1:150530029 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2560-5C>T |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001097409]|not provided [RCV002069643] |
Chr1:150558957 [GRCh38]
Chr1:150531433 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2625C>T (p.Ala875=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001097410]|not provided [RCV002067742] |
Chr1:150559027 [GRCh38]
Chr1:150531503 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2704G>A (p.Ala902Thr) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001097413]|Ectopia lentis et pupillae [RCV003339479]|not provided [RCV002069644] |
Chr1:150559106 [GRCh38]
Chr1:150531582 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_019032.6(ADAMTSL4):c.2737C>T (p.Arg913Cys) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001097504]|Ectopia lentis et pupillae [RCV003339480]|not provided [RCV002555995] |
Chr1:150559139 [GRCh38]
Chr1:150531615 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2763+12G>A |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001097505]|Ectopia lentis et pupillae [RCV003339481]|not provided [RCV002069646] |
Chr1:150559177 [GRCh38]
Chr1:150531653 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_019032.6(ADAMTSL4):c.1179C>T (p.Ala393=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001098990]|Ectopia lentis et pupillae [RCV003339487]|not provided [RCV002067752] |
Chr1:150554412 [GRCh38]
Chr1:150526888 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_019032.6(ADAMTSL4):c.420T>C (p.Ile140=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001100706] |
Chr1:150553239 [GRCh38]
Chr1:150525715 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.569G>T (p.Gly190Val) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV001100971] |
Chr1:150553560 [GRCh38]
Chr1:150526036 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.377G>A (p.Arg126Gln) |
single nucleotide variant |
not provided [RCV003106774] |
Chr1:150553196 [GRCh38]
Chr1:150525672 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2472G>C (p.Ala824=) |
single nucleotide variant |
not provided [RCV001870636] |
Chr1:150558562 [GRCh38]
Chr1:150531038 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2560-24A>C |
single nucleotide variant |
not provided [RCV001539197] |
Chr1:150558938 [GRCh38]
Chr1:150531414 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.2341C>T (p.Arg781Cys) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339577]|Ectopia lentis et pupillae [RCV001281007]|Ectopia lentis et pupillae [RCV003339578]|not provided [RCV001871626] |
Chr1:150558108 [GRCh38]
Chr1:150530584 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.963dup (p.Thr322fs) |
duplication |
not provided [RCV001580028] |
Chr1:150553947..150553948 [GRCh38]
Chr1:150526423..150526424 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1712C>A (p.Ser571Ter) |
single nucleotide variant |
Isolated ectopia lentis [RCV001449734] |
Chr1:150556756 [GRCh38]
Chr1:150529232 [GRCh37]
Chr1:1q21.2 |
likely pathogenic |
| NM_019032.6(ADAMTSL4):c.1576+43G>A |
single nucleotide variant |
not provided [RCV001541810] |
Chr1:150556409 [GRCh38]
Chr1:150528885 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1436del (p.Gly479fs) |
deletion |
Ectopia lentis et pupillae [RCV001533172] |
Chr1:150556222 [GRCh38]
Chr1:150528698 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1371+78AC[5] |
microsatellite |
not provided [RCV001534343] |
Chr1:150555642..150555643 [GRCh38]
Chr1:150528118..150528119 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1556_1566del (p.Arg519fs) |
deletion |
not provided [RCV001382036] |
Chr1:150556340..150556350 [GRCh38]
Chr1:150528816..150528826 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1371+156A>G |
single nucleotide variant |
not provided [RCV001688394] |
Chr1:150555721 [GRCh38]
Chr1:150528197 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1749+53_1749+54insAA |
insertion |
not provided [RCV001674771] |
Chr1:150556846..150556847 [GRCh38]
Chr1:150529322..150529323 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.2177+56C>T |
single nucleotide variant |
not provided [RCV001687157] |
Chr1:150557679 [GRCh38]
Chr1:150530155 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.2178-147C>A |
single nucleotide variant |
not provided [RCV001651715] |
Chr1:150557798 [GRCh38]
Chr1:150530274 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1371+155CA[5] |
microsatellite |
not provided [RCV001691876] |
Chr1:150555720..150555721 [GRCh38]
Chr1:150528196..150528197 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.2560-78G>A |
single nucleotide variant |
not provided [RCV001674008] |
Chr1:150558884 [GRCh38]
Chr1:150531360 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1235-183C>T |
single nucleotide variant |
not provided [RCV001724953] |
Chr1:150555246 [GRCh38]
Chr1:150527722 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1371+250A>G |
single nucleotide variant |
not provided [RCV001675272] |
Chr1:150555815 [GRCh38]
Chr1:150528291 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.2133C>T (p.Pro711=) |
single nucleotide variant |
not provided [RCV003107235] |
Chr1:150557579 [GRCh38]
Chr1:150530055 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2177+3_2177+6del |
deletion |
Craniosynostosis with ectopia lentis [RCV002243462]|not provided [RCV002544280] |
|
pathogenic|uncertain significance |
| NM_019032.6(ADAMTSL4):c.1556G>A (p.Arg519Gln) |
single nucleotide variant |
not provided [RCV003108631] |
Chr1:150556346 [GRCh38]
Chr1:150528822 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1712C>T (p.Ser571Leu) |
single nucleotide variant |
not provided [RCV003108913] |
Chr1:150556756 [GRCh38]
Chr1:150529232 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2432T>C (p.Val811Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003277018] |
Chr1:150558522 [GRCh38]
Chr1:150530998 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1480C>T (p.Arg494Ter) |
single nucleotide variant |
not provided [RCV001785891] |
Chr1:150556270 [GRCh38]
Chr1:150528746 [GRCh37]
Chr1:1q21.2 |
likely pathogenic |
| NM_019032.6(ADAMTSL4):c.434+1G>A |
single nucleotide variant |
not provided [RCV001785890] |
Chr1:150553254 [GRCh38]
Chr1:150525730 [GRCh37]
Chr1:1q21.2 |
likely pathogenic |
| NM_019032.6(ADAMTSL4):c.2270del (p.Gly757fs) |
deletion |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339741]|Ectopia lentis et pupillae [RCV003339742]|not provided [RCV001785892] |
Chr1:150558030 [GRCh38]
Chr1:150530506 [GRCh37]
Chr1:1q21.2 |
pathogenic|likely pathogenic |
| NM_019032.6(ADAMTSL4):c.1634dup (p.Gly546fs) |
duplication |
not provided [RCV001785893] |
Chr1:150556673..150556674 [GRCh38]
Chr1:150529149..150529150 [GRCh37]
Chr1:1q21.2 |
likely pathogenic |
| NM_019032.6(ADAMTSL4):c.1371+166A>G |
single nucleotide variant |
not provided [RCV001776606] |
Chr1:150555731 [GRCh38]
Chr1:150528207 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2559+49del |
deletion |
Ectopia lentis et pupillae [RCV001733705] |
Chr1:150558696 [GRCh38]
Chr1:150531172 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1444T>C (p.Ser482Pro) |
single nucleotide variant |
not provided [RCV001945005] |
Chr1:150556234 [GRCh38]
Chr1:150528710 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.995C>G (p.Pro332Arg) |
single nucleotide variant |
not provided [RCV002003589] |
Chr1:150553986 [GRCh38]
Chr1:150526462 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3199G>C (p.Glu1067Gln) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339886]|Ectopia lentis et pupillae [RCV003339887]|Inborn genetic diseases [RCV002675460]|not provided [RCV002025582] |
Chr1:150560170 [GRCh38]
Chr1:150532646 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1682C>G (p.Pro561Arg) |
single nucleotide variant |
not provided [RCV001987667] |
Chr1:150556726 [GRCh38]
Chr1:150529202 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3053G>A (p.Arg1018His) |
single nucleotide variant |
not provided [RCV001929211] |
Chr1:150559870 [GRCh38]
Chr1:150532346 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2210G>A (p.Arg737His) |
single nucleotide variant |
not provided [RCV001971267] |
Chr1:150557977 [GRCh38]
Chr1:150530453 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1974G>C (p.Arg658Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003365527]|not provided [RCV001915399] |
Chr1:150557262 [GRCh38]
Chr1:150529738 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2686C>T (p.Arg896Trp) |
single nucleotide variant |
not provided [RCV002008297] |
Chr1:150559088 [GRCh38]
Chr1:150531564 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.260G>A (p.Arg87Gln) |
single nucleotide variant |
not provided [RCV001987358] |
Chr1:150553079 [GRCh38]
Chr1:150525555 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2047+13A>G |
single nucleotide variant |
not provided [RCV002024499] |
Chr1:150557348 [GRCh38]
Chr1:150529824 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.239C>T (p.Pro80Leu) |
single nucleotide variant |
not provided [RCV001945885] |
Chr1:150553058 [GRCh38]
Chr1:150525534 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1072A>G (p.Ser358Gly) |
single nucleotide variant |
not provided [RCV001911947] |
Chr1:150554063 [GRCh38]
Chr1:150526539 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1483G>A (p.Gly495Arg) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339829]|Ectopia lentis et pupillae [RCV003224591]|Ectopia lentis et pupillae [RCV003339830]|not provided [RCV001929089] |
Chr1:150556273 [GRCh38]
Chr1:150528749 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1790A>G (p.Tyr597Cys) |
single nucleotide variant |
not provided [RCV002009281] |
Chr1:150556979 [GRCh38]
Chr1:150529455 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.877dup (p.Gln293fs) |
duplication |
not provided [RCV001967616] |
Chr1:150553864..150553865 [GRCh38]
Chr1:150526340..150526341 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1486_1487dup (p.Pro497fs) |
duplication |
not provided [RCV001890909] |
Chr1:150556272..150556273 [GRCh38]
Chr1:150528748..150528749 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1601C>A (p.Ser534Tyr) |
single nucleotide variant |
not provided [RCV001909360] |
Chr1:150556645 [GRCh38]
Chr1:150529121 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2305C>A (p.Leu769Ile) |
single nucleotide variant |
not provided [RCV002040188] |
Chr1:150558072 [GRCh38]
Chr1:150530548 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1481G>A (p.Arg494Gln) |
single nucleotide variant |
not provided [RCV002004095] |
Chr1:150556271 [GRCh38]
Chr1:150528747 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.748C>T (p.Arg250Trp) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339810]|Ectopia lentis et pupillae [RCV003339811]|Inborn genetic diseases [RCV002555727]|not provided [RCV001910043] |
Chr1:150553739 [GRCh38]
Chr1:150526215 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1909C>T (p.Arg637Trp) |
single nucleotide variant |
not provided [RCV001909546] |
Chr1:150557197 [GRCh38]
Chr1:150529673 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.827G>A (p.Arg276His) |
single nucleotide variant |
Inborn genetic diseases [RCV002552789]|not provided [RCV001891918] |
Chr1:150553818 [GRCh38]
Chr1:150526294 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2764T>C (p.Cys922Arg) |
single nucleotide variant |
not provided [RCV001968396] |
Chr1:150559287 [GRCh38]
Chr1:150531763 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2978G>A (p.Arg993Gln) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339780]|Ectopia lentis et pupillae [RCV003339781]|Inborn genetic diseases [RCV002551085]|not provided [RCV001870964] |
Chr1:150559795 [GRCh38]
Chr1:150532271 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1774G>A (p.Gly592Ser) |
single nucleotide variant |
not provided [RCV001908836] |
Chr1:150556963 [GRCh38]
Chr1:150529439 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3130G>A (p.Val1044Ile) |
single nucleotide variant |
not provided [RCV002022781] |
Chr1:150560101 [GRCh38]
Chr1:150532577 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1267C>T (p.Arg423Trp) |
single nucleotide variant |
not provided [RCV001908328] |
Chr1:150555461 [GRCh38]
Chr1:150527937 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2770T>C (p.Ser924Pro) |
single nucleotide variant |
not provided [RCV002006346] |
Chr1:150559293 [GRCh38]
Chr1:150531769 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1247A>G (p.Gln416Arg) |
single nucleotide variant |
not provided [RCV001927148] |
Chr1:150555441 [GRCh38]
Chr1:150527917 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2702G>A (p.Arg901His) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339813]|Ectopia lentis et pupillae [RCV003339814]|Inborn genetic diseases [RCV002555733]|not provided [RCV001910105] |
Chr1:150559104 [GRCh38]
Chr1:150531580 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2516G>A (p.Gly839Glu) |
single nucleotide variant |
not provided [RCV002007871] |
Chr1:150558606 [GRCh38]
Chr1:150531082 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2398G>A (p.Gly800Ser) |
single nucleotide variant |
not provided [RCV002004874] |
Chr1:150558488 [GRCh38]
Chr1:150530964 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.963_964insT (p.Thr322fs) |
insertion |
Ectopia lentis et pupillae [RCV002053867] |
Chr1:150553954..150553955 [GRCh38]
Chr1:150526430..150526431 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1874T>G (p.Val625Gly) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339897]|Ectopia lentis et pupillae [RCV003339898]|Inborn genetic diseases [RCV003161248]|not provided [RCV002020896] |
Chr1:150557162 [GRCh38]
Chr1:150529638 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.794C>T (p.Pro265Leu) |
single nucleotide variant |
not provided [RCV002005519] |
Chr1:150553785 [GRCh38]
Chr1:150526261 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2057G>A (p.Arg686His) |
single nucleotide variant |
not provided [RCV001968370] |
Chr1:150557503 [GRCh38]
Chr1:150529979 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.706G>A (p.Ala236Thr) |
single nucleotide variant |
not provided [RCV001928630] |
Chr1:150553697 [GRCh38]
Chr1:150526173 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2198C>T (p.Thr733Ile) |
single nucleotide variant |
not provided [RCV001945744] |
Chr1:150557965 [GRCh38]
Chr1:150530441 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1132-10C>T |
single nucleotide variant |
not provided [RCV001968411] |
Chr1:150554355 [GRCh38]
Chr1:150526831 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.973G>A (p.Gly325Arg) |
single nucleotide variant |
not provided [RCV001892522] |
Chr1:150553964 [GRCh38]
Chr1:150526440 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2402G>A (p.Arg801Gln) |
single nucleotide variant |
not provided [RCV001984494] |
Chr1:150558492 [GRCh38]
Chr1:150530968 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2951G>A (p.Arg984His) |
single nucleotide variant |
not provided [RCV001948311] |
Chr1:150559768 [GRCh38]
Chr1:150532244 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2378G>T (p.Ser793Ile) |
single nucleotide variant |
not provided [RCV001970403] |
Chr1:150558145 [GRCh38]
Chr1:150530621 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.521A>C (p.His174Pro) |
single nucleotide variant |
not provided [RCV001967966] |
Chr1:150553512 [GRCh38]
Chr1:150525988 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.715G>C (p.Glu239Gln) |
single nucleotide variant |
not provided [RCV001983929] |
Chr1:150553706 [GRCh38]
Chr1:150526182 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2773G>A (p.Glu925Lys) |
single nucleotide variant |
not provided [RCV002007049] |
Chr1:150559296 [GRCh38]
Chr1:150531772 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1835A>G (p.Glu612Gly) |
single nucleotide variant |
not provided [RCV002005871] |
Chr1:150557024 [GRCh38]
Chr1:150529500 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1143del (p.Glu382fs) |
deletion |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339791]|Ectopia lentis et pupillae [RCV003147695]|See cases [RCV003334402]|not provided [RCV001910928] |
Chr1:150554376 [GRCh38]
Chr1:150526852 [GRCh37]
Chr1:1q21.2 |
pathogenic|likely pathogenic |
| NM_019032.6(ADAMTSL4):c.1138C>T (p.Pro380Ser) |
single nucleotide variant |
not provided [RCV001872550] |
Chr1:150554371 [GRCh38]
Chr1:150526847 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.458A>G (p.Lys153Arg) |
single nucleotide variant |
not provided [RCV001892038] |
Chr1:150553449 [GRCh38]
Chr1:150525925 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3038G>A (p.Arg1013Gln) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339889]|Ectopia lentis et pupillae [RCV003339890]|not provided [RCV002007016] |
Chr1:150559855 [GRCh38]
Chr1:150532331 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2671T>C (p.Cys891Arg) |
single nucleotide variant |
not provided [RCV001910357] |
Chr1:150559073 [GRCh38]
Chr1:150531549 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1432G>A (p.Gly478Arg) |
single nucleotide variant |
not provided [RCV001945549] |
Chr1:150556222 [GRCh38]
Chr1:150528698 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2590C>T (p.Arg864Trp) |
single nucleotide variant |
not provided [RCV001951642] |
Chr1:150558992 [GRCh38]
Chr1:150531468 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.189G>T (p.Gly63=) |
single nucleotide variant |
not provided [RCV001887463] |
Chr1:150553008 [GRCh38]
Chr1:150525484 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1651G>A (p.Gly551Ser) |
single nucleotide variant |
not provided [RCV001900518] |
Chr1:150556695 [GRCh38]
Chr1:150529171 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2936G>A (p.Trp979Ter) |
single nucleotide variant |
not provided [RCV001922051] |
Chr1:150559459 [GRCh38]
Chr1:150531935 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2870C>T (p.Pro957Leu) |
single nucleotide variant |
not provided [RCV001953066] |
Chr1:150559393 [GRCh38]
Chr1:150531869 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3211del (p.Gln1071fs) |
deletion |
not provided [RCV001883951] |
Chr1:150560179 [GRCh38]
Chr1:150532655 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.956C>T (p.Thr319Met) |
single nucleotide variant |
not provided [RCV002027188] |
Chr1:150553947 [GRCh38]
Chr1:150526423 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.455T>A (p.Ile152Asn) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339875]|Ectopia lentis et pupillae [RCV003339876]|Inborn genetic diseases [RCV002592636]|not provided [RCV001978606] |
Chr1:150553446 [GRCh38]
Chr1:150525922 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.311C>T (p.Pro104Leu) |
single nucleotide variant |
not provided [RCV001905403] |
Chr1:150553130 [GRCh38]
Chr1:150525606 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.248C>T (p.Pro83Leu) |
single nucleotide variant |
not provided [RCV002047165] |
Chr1:150553067 [GRCh38]
Chr1:150525543 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1409G>A (p.Arg470His) |
single nucleotide variant |
Inborn genetic diseases [RCV003365523]|not provided [RCV001887377] |
Chr1:150556199 [GRCh38]
Chr1:150528675 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2102A>G (p.Asp701Gly) |
single nucleotide variant |
not provided [RCV002019846] |
Chr1:150557548 [GRCh38]
Chr1:150530024 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1283G>A (p.Arg428His) |
single nucleotide variant |
not provided [RCV001932904] |
Chr1:150555477 [GRCh38]
Chr1:150527953 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2738G>A (p.Arg913His) |
single nucleotide variant |
not provided [RCV001924704] |
Chr1:150559140 [GRCh38]
Chr1:150531616 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.508C>T (p.Arg170Trp) |
single nucleotide variant |
not provided [RCV002037352] |
Chr1:150553499 [GRCh38]
Chr1:150525975 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1692G>C (p.Glu564Asp) |
single nucleotide variant |
not provided [RCV002031638] |
Chr1:150556736 [GRCh38]
Chr1:150529212 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1656G>T (p.Gly552=) |
single nucleotide variant |
not provided [RCV001999518] |
Chr1:150556700 [GRCh38]
Chr1:150529176 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.460C>A (p.Pro154Thr) |
single nucleotide variant |
not provided [RCV001952527] |
Chr1:150553451 [GRCh38]
Chr1:150525927 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1778T>G (p.Val593Gly) |
single nucleotide variant |
not provided [RCV002031758] |
Chr1:150556967 [GRCh38]
Chr1:150529443 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2489C>T (p.Pro830Leu) |
single nucleotide variant |
not provided [RCV001960242] |
Chr1:150558579 [GRCh38]
Chr1:150531055 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2569G>A (p.Glu857Lys) |
single nucleotide variant |
not provided [RCV001982556] |
Chr1:150558971 [GRCh38]
Chr1:150531447 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2158G>A (p.Gly720Ser) |
single nucleotide variant |
not provided [RCV001980040] |
Chr1:150557604 [GRCh38]
Chr1:150530080 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.197G>A (p.Arg66His) |
single nucleotide variant |
not provided [RCV001952707] |
Chr1:150553016 [GRCh38]
Chr1:150525492 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2294G>A (p.Arg765His) |
single nucleotide variant |
not provided [RCV001997119] |
Chr1:150558061 [GRCh38]
Chr1:150530537 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.440G>A (p.Arg147Gln) |
single nucleotide variant |
not provided [RCV002046508] |
Chr1:150553431 [GRCh38]
Chr1:150525907 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2687G>A (p.Arg896Gln) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339769]|Ectopia lentis et pupillae [RCV003339770]|Inborn genetic diseases [RCV002550347]|not provided [RCV001942612] |
Chr1:150559089 [GRCh38]
Chr1:150531565 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1576+3G>A |
single nucleotide variant |
not provided [RCV001992316] |
Chr1:150556369 [GRCh38]
Chr1:150528845 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1750A>T (p.Met584Leu) |
single nucleotide variant |
not provided [RCV002050619] |
Chr1:150556939 [GRCh38]
Chr1:150529415 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2131C>A (p.Pro711Thr) |
single nucleotide variant |
not provided [RCV002030745] |
Chr1:150557577 [GRCh38]
Chr1:150530053 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3139C>T (p.Arg1047Trp) |
single nucleotide variant |
not provided [RCV002030921] |
Chr1:150560110 [GRCh38]
Chr1:150532586 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.499C>G (p.Pro167Ala) |
single nucleotide variant |
not provided [RCV001937545] |
Chr1:150553490 [GRCh38]
Chr1:150525966 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2263G>T (p.Gly755Trp) |
single nucleotide variant |
not provided [RCV001867297] |
Chr1:150558030 [GRCh38]
Chr1:150530506 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3205T>C (p.Ser1069Pro) |
single nucleotide variant |
not provided [RCV002013275] |
Chr1:150560176 [GRCh38]
Chr1:150532652 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1957G>A (p.Ala653Thr) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339782]|Ectopia lentis et pupillae [RCV003339783]|Inborn genetic diseases [RCV002551101]|not provided [RCV001899430] |
Chr1:150557245 [GRCh38]
Chr1:150529721 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3202C>T (p.Arg1068Trp) |
single nucleotide variant |
not provided [RCV002029687] |
Chr1:150560173 [GRCh38]
Chr1:150532649 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NC_000001.10:g.(?_149895434)_(156851434_?)dup |
duplication |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] |
Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1060C>T (p.Leu354Phe) |
single nucleotide variant |
not provided [RCV001975666] |
Chr1:150554051 [GRCh38]
Chr1:150526527 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.446G>A (p.Arg149Gln) |
single nucleotide variant |
not provided [RCV001866571] |
Chr1:150553437 [GRCh38]
Chr1:150525913 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.439C>T (p.Arg147Trp) |
single nucleotide variant |
not provided [RCV002009760] |
Chr1:150553430 [GRCh38]
Chr1:150525906 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3169A>G (p.Thr1057Ala) |
single nucleotide variant |
not provided [RCV001936037] |
Chr1:150560140 [GRCh38]
Chr1:150532616 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2260T>C (p.Phe754Leu) |
single nucleotide variant |
not provided [RCV001990479] |
Chr1:150558027 [GRCh38]
Chr1:150530503 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2545G>A (p.Asp849Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002556396]|not provided [RCV001930510] |
Chr1:150558635 [GRCh38]
Chr1:150531111 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2712C>T (p.Ser904=) |
single nucleotide variant |
not provided [RCV001951170] |
Chr1:150559114 [GRCh38]
Chr1:150531590 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2237G>A (p.Arg746His) |
single nucleotide variant |
Ectopia lentis et pupillae [RCV002293543]|not provided [RCV001953928] |
Chr1:150558004 [GRCh38]
Chr1:150530480 [GRCh37]
Chr1:1q21.2 |
pathogenic|not provided |
| NM_019032.6(ADAMTSL4):c.2413A>G (p.Ser805Gly) |
single nucleotide variant |
not provided [RCV002011344] |
Chr1:150558503 [GRCh38]
Chr1:150530979 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3126GGT[1] (p.Val1044del) |
microsatellite |
not provided [RCV001992013] |
Chr1:150560096..150560098 [GRCh38]
Chr1:150532572..150532574 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1160G>C (p.Arg387Pro) |
single nucleotide variant |
not provided [RCV001952857] |
Chr1:150554393 [GRCh38]
Chr1:150526869 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1535G>A (p.Arg512Gln) |
single nucleotide variant |
not provided [RCV002013966] |
Chr1:150556325 [GRCh38]
Chr1:150528801 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2710A>G (p.Ser904Gly) |
single nucleotide variant |
not provided [RCV001870284] |
Chr1:150559112 [GRCh38]
Chr1:150531588 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2309C>T (p.Pro770Leu) |
single nucleotide variant |
not provided [RCV001934995] |
Chr1:150558076 [GRCh38]
Chr1:150530552 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1630C>A (p.Pro544Thr) |
single nucleotide variant |
not provided [RCV001952001] |
Chr1:150556674 [GRCh38]
Chr1:150529150 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.507C>G (p.His169Gln) |
single nucleotide variant |
not provided [RCV001898205] |
Chr1:150553498 [GRCh38]
Chr1:150525974 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2794C>T (p.Arg932Cys) |
single nucleotide variant |
not provided [RCV001992700] |
Chr1:150559317 [GRCh38]
Chr1:150531793 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1033G>A (p.Gly345Ser) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339847]|Ectopia lentis et pupillae [RCV003339848]|Inborn genetic diseases [RCV002562214]|not provided [RCV001978820] |
Chr1:150554024 [GRCh38]
Chr1:150526500 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1603A>C (p.Ile535Leu) |
single nucleotide variant |
not provided [RCV001995891] |
Chr1:150556647 [GRCh38]
Chr1:150529123 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2870C>G (p.Pro957Arg) |
single nucleotide variant |
not provided [RCV001981323] |
Chr1:150559393 [GRCh38]
Chr1:150531869 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.992A>G (p.Asp331Gly) |
single nucleotide variant |
not provided [RCV002029916] |
Chr1:150553983 [GRCh38]
Chr1:150526459 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3087T>C (p.Pro1029=) |
single nucleotide variant |
not provided [RCV002017251] |
Chr1:150559904 [GRCh38]
Chr1:150532380 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3032A>C (p.Gln1011Pro) |
single nucleotide variant |
not provided [RCV001980183] |
Chr1:150559849 [GRCh38]
Chr1:150532325 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2354A>G (p.His785Arg) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339796]|Ectopia lentis et pupillae [RCV003339797]|not provided [RCV001903088] |
Chr1:150558121 [GRCh38]
Chr1:150530597 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2425C>T (p.Arg809Cys) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339761]|Ectopia lentis et pupillae [RCV003339762]|Inborn genetic diseases [RCV002545654]|not provided [RCV002035157] |
Chr1:150558515 [GRCh38]
Chr1:150530991 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.125G>A (p.Gly42Asp) |
single nucleotide variant |
not provided [RCV001906003] |
Chr1:150552944 [GRCh38]
Chr1:150525420 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1661T>A (p.Val554Asp) |
single nucleotide variant |
not provided [RCV001883466] |
Chr1:150556705 [GRCh38]
Chr1:150529181 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1174G>A (p.Ala392Thr) |
single nucleotide variant |
not provided [RCV002017899] |
Chr1:150554407 [GRCh38]
Chr1:150526883 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.916C>T (p.Pro306Ser) |
single nucleotide variant |
not provided [RCV001940588] |
Chr1:150553907 [GRCh38]
Chr1:150526383 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1372-7_1372-4del |
microsatellite |
not provided [RCV001952521] |
Chr1:150556152..150556155 [GRCh38]
Chr1:150528628..150528631 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2629G>A (p.Gly877Arg) |
single nucleotide variant |
not provided [RCV001996783] |
Chr1:150559031 [GRCh38]
Chr1:150531507 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.94T>A (p.Ser32Thr) |
single nucleotide variant |
not provided [RCV001938286] |
Chr1:150552913 [GRCh38]
Chr1:150525389 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1004C>T (p.Pro335Leu) |
single nucleotide variant |
not provided [RCV001926151] |
Chr1:150553995 [GRCh38]
Chr1:150526471 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.527G>A (p.Arg176Gln) |
single nucleotide variant |
not provided [RCV001916278] |
Chr1:150553518 [GRCh38]
Chr1:150525994 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2630G>A (p.Gly877Glu) |
single nucleotide variant |
not provided [RCV001932227] |
Chr1:150559032 [GRCh38]
Chr1:150531508 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.237C>A (p.His79Gln) |
single nucleotide variant |
not provided [RCV002010400] |
Chr1:150553056 [GRCh38]
Chr1:150525532 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1320G>T (p.Gly440=) |
single nucleotide variant |
not provided [RCV001998616] |
Chr1:150555514 [GRCh38]
Chr1:150527990 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1654G>A (p.Gly552Arg) |
single nucleotide variant |
not provided [RCV001884879] |
Chr1:150556698 [GRCh38]
Chr1:150529174 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2480C>T (p.Pro827Leu) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339833]|Ectopia lentis et pupillae [RCV003339834]|Inborn genetic diseases [RCV002561396]|not provided [RCV001938814] |
Chr1:150558570 [GRCh38]
Chr1:150531046 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1532T>C (p.Leu511Ser) |
single nucleotide variant |
not provided [RCV002018867] |
Chr1:150556322 [GRCh38]
Chr1:150528798 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.184del (p.Val62fs) |
deletion |
not provided [RCV001925259] |
Chr1:150553000 [GRCh38]
Chr1:150525476 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1900C>T (p.Arg634Cys) |
single nucleotide variant |
not provided [RCV001933038] |
Chr1:150557188 [GRCh38]
Chr1:150529664 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2705C>A (p.Ala902Asp) |
single nucleotide variant |
not provided [RCV001977358] |
Chr1:150559107 [GRCh38]
Chr1:150531583 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.797C>T (p.Thr266Met) |
single nucleotide variant |
not provided [RCV001981172] |
Chr1:150553788 [GRCh38]
Chr1:150526264 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2303A>T (p.His768Leu) |
single nucleotide variant |
not provided [RCV001998208] |
Chr1:150558070 [GRCh38]
Chr1:150530546 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2515G>A (p.Gly839Arg) |
single nucleotide variant |
not provided [RCV001981357] |
Chr1:150558605 [GRCh38]
Chr1:150531081 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3155C>A (p.Pro1052His) |
single nucleotide variant |
not provided [RCV001864763] |
Chr1:150560126 [GRCh38]
Chr1:150532602 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1855C>T (p.Gln619Ter) |
single nucleotide variant |
not provided [RCV001951873] |
Chr1:150557044 [GRCh38]
Chr1:150529520 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2021_2022del (p.Ser674fs) |
microsatellite |
Ectopia lentis 2, isolated, autosomal recessive [RCV002290795]|Ectopia lentis et pupillae [RCV003339803]|not provided [RCV001898950] |
Chr1:150557307..150557308 [GRCh38]
Chr1:150529783..150529784 [GRCh37]
Chr1:1q21.2 |
pathogenic|likely pathogenic |
| NM_019032.6(ADAMTSL4):c.616G>A (p.Ala206Thr) |
single nucleotide variant |
not provided [RCV001902592] |
Chr1:150553607 [GRCh38]
Chr1:150526083 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.181G>A (p.Gly61Arg) |
single nucleotide variant |
not provided [RCV001931527] |
Chr1:150553000 [GRCh38]
Chr1:150525476 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2780G>T (p.Gly927Val) |
single nucleotide variant |
not provided [RCV001993671] |
Chr1:150559303 [GRCh38]
Chr1:150531779 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2758G>A (p.Gly920Ser) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339804]|Ectopia lentis et pupillae [RCV003339805]|not provided [RCV001899044] |
Chr1:150559160 [GRCh38]
Chr1:150531636 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2252G>A (p.Arg751Gln) |
single nucleotide variant |
not provided [RCV001918656] |
Chr1:150558019 [GRCh38]
Chr1:150530495 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2119G>A (p.Ala707Thr) |
single nucleotide variant |
not provided [RCV001975788] |
Chr1:150557565 [GRCh38]
Chr1:150530041 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3148G>A (p.Val1050Ile) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339775]|Ectopia lentis et pupillae [RCV003339776]|Inborn genetic diseases [RCV002551027]|not provided [RCV001867447] |
Chr1:150560119 [GRCh38]
Chr1:150532595 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.526C>T (p.Arg176Trp) |
single nucleotide variant |
not provided [RCV001901227] |
Chr1:150553517 [GRCh38]
Chr1:150525993 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.509G>A (p.Arg170Gln) |
single nucleotide variant |
not provided [RCV001957020] |
Chr1:150553500 [GRCh38]
Chr1:150525976 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2518C>T (p.Pro840Ser) |
single nucleotide variant |
not provided [RCV002033827] |
Chr1:150558608 [GRCh38]
Chr1:150531084 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2577G>T (p.Gly859=) |
single nucleotide variant |
not provided [RCV001953300] |
Chr1:150558979 [GRCh38]
Chr1:150531455 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_019032.6(ADAMTSL4):c.2482C>T (p.Pro828Ser) |
single nucleotide variant |
not provided [RCV001976217] |
Chr1:150558572 [GRCh38]
Chr1:150531048 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1303G>A (p.Glu435Lys) |
single nucleotide variant |
not provided [RCV001866710] |
Chr1:150555497 [GRCh38]
Chr1:150527973 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2844T>C (p.Thr948=) |
single nucleotide variant |
not provided [RCV002205895] |
Chr1:150559367 [GRCh38]
Chr1:150531843 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2177+20C>T |
single nucleotide variant |
not provided [RCV002125605] |
Chr1:150557643 [GRCh38]
Chr1:150530119 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2481C>T (p.Pro827=) |
single nucleotide variant |
not provided [RCV002107357] |
Chr1:150558571 [GRCh38]
Chr1:150531047 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1234+3G>A |
single nucleotide variant |
Ectopia lentis et pupillae [RCV002210914] |
Chr1:150554470 [GRCh38]
Chr1:150526946 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1861+16dup |
duplication |
not provided [RCV002188241] |
Chr1:150557062..150557063 [GRCh38]
Chr1:150529538..150529539 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1335T>C (p.Pro445=) |
single nucleotide variant |
not provided [RCV002147578] |
Chr1:150555529 [GRCh38]
Chr1:150528005 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.79-17C>G |
single nucleotide variant |
not provided [RCV002147472] |
Chr1:150552881 [GRCh38]
Chr1:150525357 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.828T>C (p.Arg276=) |
single nucleotide variant |
not provided [RCV002076194] |
Chr1:150553819 [GRCh38]
Chr1:150526295 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2559+13C>T |
single nucleotide variant |
not provided [RCV002167176] |
Chr1:150558662 [GRCh38]
Chr1:150531138 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2560-17G>A |
single nucleotide variant |
not provided [RCV002210838] |
Chr1:150558945 [GRCh38]
Chr1:150531421 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1372-8C>G |
single nucleotide variant |
not provided [RCV002168037] |
Chr1:150556154 [GRCh38]
Chr1:150528630 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1962G>A (p.Pro654=) |
single nucleotide variant |
not provided [RCV002085464] |
Chr1:150557250 [GRCh38]
Chr1:150529726 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2388C>T (p.Ser796=) |
single nucleotide variant |
not provided [RCV002107816] |
Chr1:150558478 [GRCh38]
Chr1:150530954 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2952C>T (p.Arg984=) |
single nucleotide variant |
not provided [RCV002090717] |
Chr1:150559769 [GRCh38]
Chr1:150532245 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2271T>G (p.Gly757=) |
single nucleotide variant |
not provided [RCV002209227] |
Chr1:150558038 [GRCh38]
Chr1:150530514 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.936G>A (p.Gln312=) |
single nucleotide variant |
not provided [RCV002111249] |
Chr1:150553927 [GRCh38]
Chr1:150526403 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2397C>T (p.Cys799=) |
single nucleotide variant |
not provided [RCV002206147] |
Chr1:150558487 [GRCh38]
Chr1:150530963 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1749+14del |
deletion |
not provided [RCV002090871] |
Chr1:150556806 [GRCh38]
Chr1:150529282 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1722C>T (p.Gly574=) |
single nucleotide variant |
not provided [RCV002166151] |
Chr1:150556766 [GRCh38]
Chr1:150529242 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.180C>T (p.Cys60=) |
single nucleotide variant |
not provided [RCV002129141] |
Chr1:150552999 [GRCh38]
Chr1:150525475 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1713G>A (p.Ser571=) |
single nucleotide variant |
not provided [RCV002075512] |
Chr1:150556757 [GRCh38]
Chr1:150529233 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1492C>T (p.Leu498=) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003339919]|Ectopia lentis et pupillae [RCV003339920]|not provided [RCV002085904] |
Chr1:150556282 [GRCh38]
Chr1:150528758 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.979C>T (p.Arg327Cys) |
single nucleotide variant |
not provided [RCV002080169] |
Chr1:150553970 [GRCh38]
Chr1:150526446 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.108T>A (p.Pro36=) |
single nucleotide variant |
not provided [RCV002216187] |
Chr1:150552927 [GRCh38]
Chr1:150525403 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.667A>T (p.Thr223Ser) |
single nucleotide variant |
not provided [RCV001944910] |
Chr1:150553658 [GRCh38]
Chr1:150526134 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2048-11C>T |
single nucleotide variant |
not provided [RCV002195240] |
Chr1:150557483 [GRCh38]
Chr1:150529959 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2047+17C>T |
single nucleotide variant |
not provided [RCV002131432] |
Chr1:150557352 [GRCh38]
Chr1:150529828 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2383-11C>T |
single nucleotide variant |
not provided [RCV002151556] |
Chr1:150558462 [GRCh38]
Chr1:150530938 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2547C>G (p.Asp849Glu) |
single nucleotide variant |
not provided [RCV002093641] |
Chr1:150558637 [GRCh38]
Chr1:150531113 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1845C>T (p.Val615=) |
single nucleotide variant |
not provided [RCV002207011] |
Chr1:150557034 [GRCh38]
Chr1:150529510 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.798G>A (p.Thr266=) |
single nucleotide variant |
not provided [RCV002150492] |
Chr1:150553789 [GRCh38]
Chr1:150526265 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.21-15G>C |
single nucleotide variant |
not provided [RCV002133320] |
Chr1:150552528 [GRCh38]
Chr1:150525004 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.553C>T (p.Leu185=) |
single nucleotide variant |
not provided [RCV002116304] |
Chr1:150553544 [GRCh38]
Chr1:150526020 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1131+12C>T |
single nucleotide variant |
not provided [RCV002197200] |
Chr1:150554134 [GRCh38]
Chr1:150526610 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2859T>C (p.Cys953=) |
single nucleotide variant |
not provided [RCV002110593] |
Chr1:150559382 [GRCh38]
Chr1:150531858 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.78+13C>A |
single nucleotide variant |
not provided [RCV002195359] |
Chr1:150552613 [GRCh38]
Chr1:150525089 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2850G>A (p.Pro950=) |
single nucleotide variant |
not provided [RCV002092817] |
Chr1:150559373 [GRCh38]
Chr1:150531849 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2436G>A (p.Gly812=) |
single nucleotide variant |
not provided [RCV002094820] |
Chr1:150558526 [GRCh38]
Chr1:150531002 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2191G>A (p.Glu731Lys) |
single nucleotide variant |
not provided [RCV001944913] |
Chr1:150557958 [GRCh38]
Chr1:150530434 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.382C>T (p.Pro128Ser) |
single nucleotide variant |
not provided [RCV002112916] |
Chr1:150553201 [GRCh38]
Chr1:150525677 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1005G>A (p.Pro335=) |
single nucleotide variant |
not provided [RCV002113565] |
Chr1:150553996 [GRCh38]
Chr1:150526472 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.744C>G (p.Pro248=) |
single nucleotide variant |
not provided [RCV002194974] |
Chr1:150553735 [GRCh38]
Chr1:150526211 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.585G>A (p.Pro195=) |
single nucleotide variant |
not provided [RCV002116517] |
Chr1:150553576 [GRCh38]
Chr1:150526052 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2751G>A (p.Gly917=) |
single nucleotide variant |
not provided [RCV002116006] |
Chr1:150559153 [GRCh38]
Chr1:150531629 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.3177C>T (p.Cys1059=) |
single nucleotide variant |
not provided [RCV002149820] |
Chr1:150560148 [GRCh38]
Chr1:150532624 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2075T>C (p.Ile692Thr) |
single nucleotide variant |
not provided [RCV002077453] |
Chr1:150557521 [GRCh38]
Chr1:150529997 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.249C>T (p.Pro83=) |
single nucleotide variant |
not provided [RCV002150375] |
Chr1:150553068 [GRCh38]
Chr1:150525544 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1527A>G (p.Gly509=) |
single nucleotide variant |
not provided [RCV002213055] |
Chr1:150556317 [GRCh38]
Chr1:150528793 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2401C>T (p.Arg801Trp) |
single nucleotide variant |
not provided [RCV002103938] |
Chr1:150558491 [GRCh38]
Chr1:150530967 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.3186C>T (p.Cys1062=) |
single nucleotide variant |
not provided [RCV002175644] |
Chr1:150560157 [GRCh38]
Chr1:150532633 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.678C>G (p.Pro226=) |
single nucleotide variant |
not provided [RCV002082103] |
Chr1:150553669 [GRCh38]
Chr1:150526145 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2559+13C>A |
single nucleotide variant |
not provided [RCV002084028] |
Chr1:150558662 [GRCh38]
Chr1:150531138 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1577-4G>A |
single nucleotide variant |
not provided [RCV002103287] |
Chr1:150556617 [GRCh38]
Chr1:150529093 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2472_2559+45delinsAGCCAT |
indel |
not provided [RCV002259509] |
Chr1:150558562..150558694 [GRCh38]
Chr1:150531038..150531170 [GRCh37]
Chr1:1q21.2 |
likely pathogenic |
| NM_019032.6(ADAMTSL4):c.1659C>T (p.Thr553=) |
single nucleotide variant |
not provided [RCV002083315] |
Chr1:150556703 [GRCh38]
Chr1:150529179 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2943+10T>C |
single nucleotide variant |
not provided [RCV002181068] |
Chr1:150559476 [GRCh38]
Chr1:150531952 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.3051G>A (p.Lys1017=) |
single nucleotide variant |
not provided [RCV002083888] |
Chr1:150559868 [GRCh38]
Chr1:150532344 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2493del (p.Ser832fs) |
deletion |
Ectopia lentis 2, isolated, autosomal recessive [RCV002272647] |
Chr1:150558578 [GRCh38]
Chr1:150531054 [GRCh37]
Chr1:1q21.2 |
likely pathogenic |
| NM_019032.6(ADAMTSL4):c.950G>A (p.Trp317Ter) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV002249229] |
Chr1:150553941 [GRCh38]
Chr1:150526417 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1125C>T (p.Ser375=) |
single nucleotide variant |
not provided [RCV002176140] |
Chr1:150554116 [GRCh38]
Chr1:150526592 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.564T>C (p.Ser188=) |
single nucleotide variant |
not provided [RCV002204619] |
Chr1:150553555 [GRCh38]
Chr1:150526031 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1011C>T (p.Ala337=) |
single nucleotide variant |
not provided [RCV002142237] |
Chr1:150554002 [GRCh38]
Chr1:150526478 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1686G>A (p.Arg562=) |
single nucleotide variant |
not provided [RCV002184287] |
Chr1:150556730 [GRCh38]
Chr1:150529206 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.615C>T (p.Ser205=) |
single nucleotide variant |
not provided [RCV002122876] |
Chr1:150553606 [GRCh38]
Chr1:150526082 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1008C>T (p.Gly336=) |
single nucleotide variant |
not provided [RCV002161467] |
Chr1:150553999 [GRCh38]
Chr1:150526475 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2560-14CTC[2] |
microsatellite |
Ectopia lentis et pupillae [RCV002508025]|not provided [RCV002136830] |
Chr1:150558948..150558950 [GRCh38]
Chr1:150531424..150531426 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_019032.6(ADAMTSL4):c.1371+14GT[4] |
microsatellite |
not provided [RCV002178737] |
Chr1:150555579..150555580 [GRCh38]
Chr1:150528055..150528056 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2560-18C>T |
single nucleotide variant |
not provided [RCV002178699] |
Chr1:150558944 [GRCh38]
Chr1:150531420 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2970G>A (p.Thr990=) |
single nucleotide variant |
not provided [RCV002137040] |
Chr1:150559787 [GRCh38]
Chr1:150532263 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1488C>T (p.Gly496=) |
single nucleotide variant |
not provided [RCV002201934] |
Chr1:150556278 [GRCh38]
Chr1:150528754 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.20+17C>T |
single nucleotide variant |
not provided [RCV002203363] |
Chr1:150552325 [GRCh38]
Chr1:150524801 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.972C>T (p.His324=) |
single nucleotide variant |
not provided [RCV002156524] |
Chr1:150553963 [GRCh38]
Chr1:150526439 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1998G>A (p.Ala666=) |
single nucleotide variant |
not provided [RCV002098791] |
Chr1:150557286 [GRCh38]
Chr1:150529762 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1132-4G>A |
single nucleotide variant |
not provided [RCV002122155] |
Chr1:150554361 [GRCh38]
Chr1:150526837 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1884A>G (p.Pro628=) |
single nucleotide variant |
not provided [RCV002217759] |
Chr1:150557172 [GRCh38]
Chr1:150529648 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2064T>C (p.Ile688=) |
single nucleotide variant |
not provided [RCV002176630] |
Chr1:150557510 [GRCh38]
Chr1:150529986 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1131+13G>A |
single nucleotide variant |
not provided [RCV002219817] |
Chr1:150554135 [GRCh38]
Chr1:150526611 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1132-7A>G |
single nucleotide variant |
not provided [RCV002138438] |
Chr1:150554358 [GRCh38]
Chr1:150526834 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1909C>A (p.Arg637=) |
single nucleotide variant |
not provided [RCV002176708] |
Chr1:150557197 [GRCh38]
Chr1:150529673 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.911C>T (p.Ser304Leu) |
single nucleotide variant |
not provided [RCV003110417] |
Chr1:150553902 [GRCh38]
Chr1:150526378 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.745del (p.Leu249fs) |
deletion |
not provided [RCV003109956] |
Chr1:150553731 [GRCh38]
Chr1:150526207 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2565A>T (p.Ser855=) |
single nucleotide variant |
not provided [RCV003115825] |
Chr1:150558967 [GRCh38]
Chr1:150531443 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2326C>T (p.Gln776Ter) |
single nucleotide variant |
not provided [RCV003116814] |
Chr1:150558093 [GRCh38]
Chr1:150530569 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1862-10C>T |
single nucleotide variant |
not provided [RCV003116815] |
Chr1:150557140 [GRCh38]
Chr1:150529616 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1325T>C (p.Leu442Pro) |
single nucleotide variant |
not provided [RCV003114148] |
Chr1:150555519 [GRCh38]
Chr1:150527995 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1598G>A (p.Arg533Gln) |
single nucleotide variant |
not provided [RCV003114747] |
Chr1:150556642 [GRCh38]
Chr1:150529118 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.892C>T (p.Arg298Cys) |
single nucleotide variant |
not provided [RCV003115406] |
Chr1:150553883 [GRCh38]
Chr1:150526359 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.129C>T (p.Pro43=) |
single nucleotide variant |
not provided [RCV003115046] |
Chr1:150552948 [GRCh38]
Chr1:150525424 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1897C>T (p.Pro633Ser) |
single nucleotide variant |
not provided [RCV003112996] |
Chr1:150557185 [GRCh38]
Chr1:150529661 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1950G>C (p.Gln650His) |
single nucleotide variant |
not provided [RCV003112997] |
Chr1:150557238 [GRCh38]
Chr1:150529714 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1650C>T (p.Ala550=) |
single nucleotide variant |
not provided [RCV003115772] |
Chr1:150556694 [GRCh38]
Chr1:150529170 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.575A>C (p.Glu192Ala) |
single nucleotide variant |
not provided [RCV003121350] |
Chr1:150553566 [GRCh38]
Chr1:150526042 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NC_000001.10:g.(?_150524765)_(150532672_?)dup |
duplication |
not provided [RCV003119946] |
Chr1:150524765..150532672 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NC_000001.10:g.(?_150524765)_(150525096_?)dup |
duplication |
not provided [RCV003119947] |
Chr1:150524765..150525096 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.816T>G (p.Gly272=) |
single nucleotide variant |
not provided [RCV003121189] |
Chr1:150553807 [GRCh38]
Chr1:150526283 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2629G>C (p.Gly877Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003294790] |
Chr1:150559031 [GRCh38]
Chr1:150531507 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2944-31A>C |
single nucleotide variant |
not provided [RCV002285843] |
Chr1:150559730 [GRCh38]
Chr1:150532206 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1124G>A (p.Ser375Asn) |
single nucleotide variant |
not provided [RCV002296900] |
Chr1:150554115 [GRCh38]
Chr1:150526591 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2390T>G (p.Val797Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003255994] |
Chr1:150558480 [GRCh38]
Chr1:150530956 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2977C>G (p.Arg993Gly) |
single nucleotide variant |
not provided [RCV002297546] |
Chr1:150559794 [GRCh38]
Chr1:150532270 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2689C>A (p.Pro897Thr) |
single nucleotide variant |
not provided [RCV002304599] |
Chr1:150559091 [GRCh38]
Chr1:150531567 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.880G>C (p.Val294Leu) |
single nucleotide variant |
not provided [RCV002304727] |
Chr1:150553871 [GRCh38]
Chr1:150526347 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2944T>C (p.Cys982Arg) |
single nucleotide variant |
not provided [RCV002296003] |
Chr1:150559761 [GRCh38]
Chr1:150532237 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2651G>A (p.Gly884Glu) |
single nucleotide variant |
not provided [RCV002295669] |
Chr1:150559053 [GRCh38]
Chr1:150531529 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2800G>A (p.Asp934Asn) |
single nucleotide variant |
not provided [RCV002301500] |
Chr1:150559323 [GRCh38]
Chr1:150531799 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1620G>A (p.Trp540Ter) |
single nucleotide variant |
not provided [RCV002308913] |
Chr1:150556664 [GRCh38]
Chr1:150529140 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2977C>T (p.Arg993Trp) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003340483]|Ectopia lentis et pupillae [RCV003340484]|Inborn genetic diseases [RCV003164529]|not provided [RCV002308917] |
Chr1:150559794 [GRCh38]
Chr1:150532270 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.475T>A (p.Tyr159Asn) |
single nucleotide variant |
not provided [RCV002301574] |
Chr1:150553466 [GRCh38]
Chr1:150525942 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.296G>A (p.Gly99Asp) |
single nucleotide variant |
not provided [RCV002685604] |
Chr1:150553115 [GRCh38]
Chr1:150525591 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1463C>T (p.Ser488Leu) |
single nucleotide variant |
not provided [RCV002755026] |
Chr1:150556253 [GRCh38]
Chr1:150528729 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1862-4A>G |
single nucleotide variant |
not provided [RCV002613987] |
Chr1:150557146 [GRCh38]
Chr1:150529622 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2725G>A (p.Glu909Lys) |
single nucleotide variant |
not provided [RCV002681780] |
Chr1:150559127 [GRCh38]
Chr1:150531603 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1424G>A (p.Gly475Glu) |
single nucleotide variant |
not provided [RCV003014285] |
Chr1:150556214 [GRCh38]
Chr1:150528690 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1953G>A (p.Met651Ile) |
single nucleotide variant |
not provided [RCV002771049] |
Chr1:150557241 [GRCh38]
Chr1:150529717 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.6G>T (p.Glu2Asp) |
single nucleotide variant |
not provided [RCV002861384] |
Chr1:150552294 [GRCh38]
Chr1:150524770 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2317A>G (p.Asn773Asp) |
single nucleotide variant |
not provided [RCV002842035] |
Chr1:150558084 [GRCh38]
Chr1:150530560 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2980G>A (p.Glu994Lys) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003340528]|Ectopia lentis et pupillae [RCV003340529]|Inborn genetic diseases [RCV002636192]|not provided [RCV002642446] |
Chr1:150559797 [GRCh38]
Chr1:150532273 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2764-6C>T |
single nucleotide variant |
not provided [RCV002618812] |
Chr1:150559281 [GRCh38]
Chr1:150531757 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2034G>A (p.Ala678=) |
single nucleotide variant |
not provided [RCV002967796] |
Chr1:150557322 [GRCh38]
Chr1:150529798 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2342G>T (p.Arg781Leu) |
single nucleotide variant |
not provided [RCV002726574] |
Chr1:150558109 [GRCh38]
Chr1:150530585 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2559G>T (p.Lys853Asn) |
single nucleotide variant |
not provided [RCV002756394] |
Chr1:150558649 [GRCh38]
Chr1:150531125 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1249C>T (p.Arg417Cys) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003340533]|Ectopia lentis et pupillae [RCV003340534]|Inborn genetic diseases [RCV002681734]|not provided [RCV002700229] |
Chr1:150555443 [GRCh38]
Chr1:150527919 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1478A>G (p.Asp493Gly) |
single nucleotide variant |
not provided [RCV002756495] |
Chr1:150556268 [GRCh38]
Chr1:150528744 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2073C>T (p.Cys691=) |
single nucleotide variant |
not provided [RCV002756685] |
Chr1:150557519 [GRCh38]
Chr1:150529995 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.205C>T (p.Arg69Trp) |
single nucleotide variant |
not provided [RCV002751010] |
Chr1:150553024 [GRCh38]
Chr1:150525500 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2664G>A (p.Gly888=) |
single nucleotide variant |
not provided [RCV003035086] |
Chr1:150559066 [GRCh38]
Chr1:150531542 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2527A>G (p.Thr843Ala) |
single nucleotide variant |
not provided [RCV002751175] |
Chr1:150558617 [GRCh38]
Chr1:150531093 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3217C>A (p.Pro1073Thr) |
single nucleotide variant |
not provided [RCV002947837] |
Chr1:150560188 [GRCh38]
Chr1:150532664 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2108G>A (p.Arg703His) |
single nucleotide variant |
not provided [RCV002685722] |
Chr1:150557554 [GRCh38]
Chr1:150530030 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2270G>A (p.Gly757Asp) |
single nucleotide variant |
not provided [RCV003013136] |
Chr1:150558037 [GRCh38]
Chr1:150530513 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1173C>T (p.Cys391=) |
single nucleotide variant |
not provided [RCV003075146] |
Chr1:150554406 [GRCh38]
Chr1:150526882 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.716A>G (p.Glu239Gly) |
single nucleotide variant |
not provided [RCV002685846] |
Chr1:150553707 [GRCh38]
Chr1:150526183 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2276C>T (p.Ser759Phe) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003340608]|Ectopia lentis et pupillae [RCV003340609]|Inborn genetic diseases [RCV003074137]|not provided [RCV003065118] |
Chr1:150558043 [GRCh38]
Chr1:150530519 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2209C>T (p.Arg737Cys) |
single nucleotide variant |
not provided [RCV002993760] |
Chr1:150557976 [GRCh38]
Chr1:150530452 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2704G>T (p.Ala902Ser) |
single nucleotide variant |
not provided [RCV002994233] |
Chr1:150559106 [GRCh38]
Chr1:150531582 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2189G>A (p.Gly730Asp) |
single nucleotide variant |
not provided [RCV002726864] |
Chr1:150557956 [GRCh38]
Chr1:150530432 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2917C>T (p.Arg973Ter) |
single nucleotide variant |
not provided [RCV002617659] |
Chr1:150559440 [GRCh38]
Chr1:150531916 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2440A>G (p.Asn814Asp) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003340550]|Ectopia lentis et pupillae [RCV003340551]|Inborn genetic diseases [RCV002903456]|not provided [RCV002903455] |
Chr1:150558530 [GRCh38]
Chr1:150531006 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.665A>G (p.His222Arg) |
single nucleotide variant |
not provided [RCV002726162] |
Chr1:150553656 [GRCh38]
Chr1:150526132 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2493C>T (p.Pro831=) |
single nucleotide variant |
not provided [RCV002862540] |
Chr1:150558583 [GRCh38]
Chr1:150531059 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2471C>T (p.Ala824Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003377881]|not provided [RCV003095650] |
Chr1:150558561 [GRCh38]
Chr1:150531037 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1175C>T (p.Ala392Val) |
single nucleotide variant |
not provided [RCV002994888] |
Chr1:150554408 [GRCh38]
Chr1:150526884 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.476A>G (p.Tyr159Cys) |
single nucleotide variant |
not provided [RCV003015131] |
Chr1:150553467 [GRCh38]
Chr1:150525943 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2054G>A (p.Trp685Ter) |
single nucleotide variant |
not provided [RCV002903661] |
Chr1:150557500 [GRCh38]
Chr1:150529976 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2041G>A (p.Gly681Arg) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003340575]|Ectopia lentis et pupillae [RCV003340576]|Inborn genetic diseases [RCV002971187]|not provided [RCV002959102] |
Chr1:150557329 [GRCh38]
Chr1:150529805 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3089-10_3089-9del |
microsatellite |
not provided [RCV002972134] |
Chr1:150560048..150560049 [GRCh38]
Chr1:150532524..150532525 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.565A>G (p.Arg189Gly) |
single nucleotide variant |
not provided [RCV003015865] |
Chr1:150553556 [GRCh38]
Chr1:150526032 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2974A>G (p.Thr992Ala) |
single nucleotide variant |
not provided [RCV002756395] |
Chr1:150559791 [GRCh38]
Chr1:150532267 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.963G>C (p.Gly321=) |
single nucleotide variant |
not provided [RCV002730961] |
Chr1:150553954 [GRCh38]
Chr1:150526430 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2796T>C (p.Arg932=) |
single nucleotide variant |
not provided [RCV002686362] |
Chr1:150559319 [GRCh38]
Chr1:150531795 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.3167C>T (p.Ala1056Val) |
single nucleotide variant |
not provided [RCV002819674] |
Chr1:150560138 [GRCh38]
Chr1:150532614 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.79-17C>A |
single nucleotide variant |
not provided [RCV002907821] |
Chr1:150552881 [GRCh38]
Chr1:150525357 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.3089-10C>G |
single nucleotide variant |
not provided [RCV002819882] |
Chr1:150560050 [GRCh38]
Chr1:150532526 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1197C>G (p.Phe399Leu) |
single nucleotide variant |
not provided [RCV002617923] |
Chr1:150554430 [GRCh38]
Chr1:150526906 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1289A>G (p.Tyr430Cys) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003340523]|Ectopia lentis et pupillae [RCV003340524]|Inborn genetic diseases [RCV002617598]|not provided [RCV002617599] |
Chr1:150555483 [GRCh38]
Chr1:150527959 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1583G>C (p.Arg528Pro) |
single nucleotide variant |
not provided [RCV003076095] |
Chr1:150556627 [GRCh38]
Chr1:150529103 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3089-5C>T |
single nucleotide variant |
not provided [RCV002750083] |
Chr1:150560055 [GRCh38]
Chr1:150532531 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.302G>A (p.Gly101Asp) |
single nucleotide variant |
not provided [RCV002948579] |
Chr1:150553121 [GRCh38]
Chr1:150525597 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.318_319del (p.Pro108fs) |
deletion |
not provided [RCV002824204] |
Chr1:150553137..150553138 [GRCh38]
Chr1:150525613..150525614 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.963G>A (p.Gly321=) |
single nucleotide variant |
not provided [RCV002572046] |
Chr1:150553954 [GRCh38]
Chr1:150526430 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.865_866delinsAA (p.Trp289Lys) |
indel |
not provided [RCV003003023] |
Chr1:150553856..150553857 [GRCh38]
Chr1:150526332..150526333 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2544C>T (p.Ser848=) |
single nucleotide variant |
not provided [RCV002622434] |
Chr1:150558634 [GRCh38]
Chr1:150531110 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2127C>T (p.Ala709=) |
single nucleotide variant |
not provided [RCV002593463] |
Chr1:150557573 [GRCh38]
Chr1:150530049 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.3088+12C>T |
single nucleotide variant |
not provided [RCV003018205] |
Chr1:150559917 [GRCh38]
Chr1:150532393 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1373G>C (p.Ser458Thr) |
single nucleotide variant |
not provided [RCV002825615] |
Chr1:150556163 [GRCh38]
Chr1:150528639 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1832del (p.Pro611fs) |
deletion |
not provided [RCV002696151] |
Chr1:150557018 [GRCh38]
Chr1:150529494 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2426G>A (p.Arg809His) |
single nucleotide variant |
not provided [RCV002786109] |
Chr1:150558516 [GRCh38]
Chr1:150530992 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.54C>T (p.Leu18=) |
single nucleotide variant |
not provided [RCV003039457] |
Chr1:150552576 [GRCh38]
Chr1:150525052 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.3212A>G (p.Gln1071Arg) |
single nucleotide variant |
not provided [RCV002735450] |
Chr1:150560183 [GRCh38]
Chr1:150532659 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.196C>T (p.Arg66Cys) |
single nucleotide variant |
not provided [RCV003002135] |
Chr1:150553015 [GRCh38]
Chr1:150525491 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1372-3C>T |
single nucleotide variant |
not provided [RCV002761390] |
Chr1:150556159 [GRCh38]
Chr1:150528635 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1885C>T (p.Leu629Phe) |
single nucleotide variant |
not provided [RCV003055448] |
Chr1:150557173 [GRCh38]
Chr1:150529649 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.26G>C (p.Trp9Ser) |
single nucleotide variant |
not provided [RCV002889901] |
Chr1:150552548 [GRCh38]
Chr1:150525024 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2177+19A>G |
single nucleotide variant |
not provided [RCV002796500] |
Chr1:150557642 [GRCh38]
Chr1:150530118 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1706G>A (p.Ser569Asn) |
single nucleotide variant |
not provided [RCV003039315] |
Chr1:150556750 [GRCh38]
Chr1:150529226 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1836G>A (p.Glu612=) |
single nucleotide variant |
not provided [RCV002871151] |
Chr1:150557025 [GRCh38]
Chr1:150529501 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1844del (p.Val615fs) |
deletion |
not provided [RCV002696235] |
Chr1:150557033 [GRCh38]
Chr1:150529509 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1099G>A (p.Glu367Lys) |
single nucleotide variant |
not provided [RCV002663021] |
Chr1:150554090 [GRCh38]
Chr1:150526566 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2635G>A (p.Gly879Ser) |
single nucleotide variant |
not provided [RCV002825243] |
Chr1:150559037 [GRCh38]
Chr1:150531513 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2383-10G>A |
single nucleotide variant |
not provided [RCV002620917] |
Chr1:150558463 [GRCh38]
Chr1:150530939 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1784A>G (p.Tyr595Cys) |
single nucleotide variant |
not provided [RCV002571777] |
Chr1:150556973 [GRCh38]
Chr1:150529449 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2343C>T (p.Arg781=) |
single nucleotide variant |
not provided [RCV003019599] |
Chr1:150558110 [GRCh38]
Chr1:150530586 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1206G>A (p.Gln402=) |
single nucleotide variant |
not provided [RCV002591750] |
Chr1:150554439 [GRCh38]
Chr1:150526915 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.652_667del (p.Glu218fs) |
deletion |
not provided [RCV003018943] |
Chr1:150553638..150553653 [GRCh38]
Chr1:150526114..150526129 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.79-11T>C |
single nucleotide variant |
not provided [RCV003037769] |
Chr1:150552887 [GRCh38]
Chr1:150525363 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2838C>T (p.Asn946=) |
single nucleotide variant |
not provided [RCV002636447] |
Chr1:150559361 [GRCh38]
Chr1:150531837 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.980G>A (p.Arg327His) |
single nucleotide variant |
not provided [RCV002621302] |
Chr1:150553971 [GRCh38]
Chr1:150526447 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1086A>G (p.Pro362=) |
single nucleotide variant |
not provided [RCV002866728] |
Chr1:150554077 [GRCh38]
Chr1:150526553 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2739C>T (p.Arg913=) |
single nucleotide variant |
not provided [RCV002691122] |
Chr1:150559141 [GRCh38]
Chr1:150531617 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1933C>T (p.Gln645Ter) |
single nucleotide variant |
not provided [RCV002867885] |
Chr1:150557221 [GRCh38]
Chr1:150529697 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2490C>T (p.Pro830=) |
single nucleotide variant |
not provided [RCV002847329] |
Chr1:150558580 [GRCh38]
Chr1:150531056 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2444G>T (p.Gly815Val) |
single nucleotide variant |
not provided [RCV003018412] |
Chr1:150558534 [GRCh38]
Chr1:150531010 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2684G>A (p.Ser895Asn) |
single nucleotide variant |
not provided [RCV003053528] |
Chr1:150559086 [GRCh38]
Chr1:150531562 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.912G>A (p.Ser304=) |
single nucleotide variant |
not provided [RCV002621063] |
Chr1:150553903 [GRCh38]
Chr1:150526379 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2342G>C (p.Arg781Pro) |
single nucleotide variant |
not provided [RCV002590589] |
Chr1:150558109 [GRCh38]
Chr1:150530585 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.517A>G (p.Arg173Gly) |
single nucleotide variant |
not provided [RCV002797094] |
Chr1:150553508 [GRCh38]
Chr1:150525984 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1364G>A (p.Arg455His) |
single nucleotide variant |
not provided [RCV002591278] |
Chr1:150555558 [GRCh38]
Chr1:150528034 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1648_1652dup (p.Gly552fs) |
duplication |
not provided [RCV003036580] |
Chr1:150556689..150556690 [GRCh38]
Chr1:150529165..150529166 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.434+11T>C |
single nucleotide variant |
not provided [RCV002820633] |
Chr1:150553264 [GRCh38]
Chr1:150525740 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.589C>T (p.Pro197Ser) |
single nucleotide variant |
not provided [RCV002796788] |
Chr1:150553580 [GRCh38]
Chr1:150526056 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1131+15G>T |
single nucleotide variant |
not provided [RCV002823840] |
Chr1:150554137 [GRCh38]
Chr1:150526613 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.3013A>G (p.Ser1005Gly) |
single nucleotide variant |
not provided [RCV002979029] |
Chr1:150559830 [GRCh38]
Chr1:150532306 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2047+18G>A |
single nucleotide variant |
not provided [RCV002592897] |
Chr1:150557353 [GRCh38]
Chr1:150529829 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.183G>A (p.Gly61=) |
single nucleotide variant |
not provided [RCV002569707] |
Chr1:150553002 [GRCh38]
Chr1:150525478 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1068T>C (p.Ala356=) |
single nucleotide variant |
not provided [RCV002621792] |
Chr1:150554059 [GRCh38]
Chr1:150526535 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.385G>A (p.Ala129Thr) |
single nucleotide variant |
not provided [RCV003078731] |
Chr1:150553204 [GRCh38]
Chr1:150525680 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1132-11C>A |
single nucleotide variant |
not provided [RCV002913202] |
Chr1:150554354 [GRCh38]
Chr1:150526830 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2387C>T (p.Ser796Phe) |
single nucleotide variant |
not provided [RCV003038568] |
Chr1:150558477 [GRCh38]
Chr1:150530953 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.416A>G (p.Glu139Gly) |
single nucleotide variant |
not provided [RCV002659015] |
Chr1:150553235 [GRCh38]
Chr1:150525711 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2805C>G (p.Ile935Met) |
single nucleotide variant |
not provided [RCV003018455] |
Chr1:150559328 [GRCh38]
Chr1:150531804 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2056C>T (p.Arg686Cys) |
single nucleotide variant |
not provided [RCV002591077] |
Chr1:150557502 [GRCh38]
Chr1:150529978 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1799C>T (p.Ser600Phe) |
single nucleotide variant |
not provided [RCV002999309] |
Chr1:150556988 [GRCh38]
Chr1:150529464 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1694G>A (p.Gly565Asp) |
single nucleotide variant |
not provided [RCV002590880] |
Chr1:150556738 [GRCh38]
Chr1:150529214 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2472G>T (p.Ala824=) |
single nucleotide variant |
not provided [RCV002847125] |
Chr1:150558562 [GRCh38]
Chr1:150531038 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2277C>T (p.Ser759=) |
single nucleotide variant |
not provided [RCV002760818] |
Chr1:150558044 [GRCh38]
Chr1:150530520 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1582C>T (p.Arg528Cys) |
single nucleotide variant |
not provided [RCV003079351] |
Chr1:150556626 [GRCh38]
Chr1:150529102 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2886G>A (p.Leu962=) |
single nucleotide variant |
not provided [RCV002953295] |
Chr1:150559409 [GRCh38]
Chr1:150531885 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2574_2575del (p.Cys858fs) |
microsatellite |
not provided [RCV002976578] |
Chr1:150558973..150558974 [GRCh38]
Chr1:150531449..150531450 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2382+13A>G |
single nucleotide variant |
not provided [RCV002796050] |
Chr1:150558162 [GRCh38]
Chr1:150530638 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1040A>G (p.His347Arg) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003340634]|Ectopia lentis et pupillae [RCV003340635]|Inborn genetic diseases [RCV002602744]|not provided [RCV002619191] |
Chr1:150554031 [GRCh38]
Chr1:150526507 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.744C>A (p.Pro248=) |
single nucleotide variant |
not provided [RCV002592383] |
Chr1:150553735 [GRCh38]
Chr1:150526211 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.311C>A (p.Pro104His) |
single nucleotide variant |
not provided [RCV002761435] |
Chr1:150553130 [GRCh38]
Chr1:150525606 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2828C>T (p.Thr943Met) |
single nucleotide variant |
not provided [RCV002636501] |
Chr1:150559351 [GRCh38]
Chr1:150531827 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1920C>T (p.Gly640=) |
single nucleotide variant |
not provided [RCV002846918] |
Chr1:150557208 [GRCh38]
Chr1:150529684 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2568del (p.Glu857fs) |
deletion |
not provided [RCV002622340] |
Chr1:150558969 [GRCh38]
Chr1:150531445 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.293G>A (p.Arg98Gln) |
single nucleotide variant |
not provided [RCV003100189] |
Chr1:150553112 [GRCh38]
Chr1:150525588 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2686C>A (p.Arg896=) |
single nucleotide variant |
not provided [RCV002999346] |
Chr1:150559088 [GRCh38]
Chr1:150531564 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.860A>C (p.Gln287Pro) |
single nucleotide variant |
not provided [RCV002795617] |
Chr1:150553851 [GRCh38]
Chr1:150526327 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1970C>T (p.Pro657Leu) |
single nucleotide variant |
not provided [RCV002999707] |
Chr1:150557258 [GRCh38]
Chr1:150529734 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1159C>T (p.Arg387Trp) |
single nucleotide variant |
not provided [RCV002639411] |
Chr1:150554392 [GRCh38]
Chr1:150526868 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2628C>G (p.Leu876=) |
single nucleotide variant |
not provided [RCV002705629] |
Chr1:150559030 [GRCh38]
Chr1:150531506 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1702G>A (p.Glu568Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002761924] |
Chr1:150556746 [GRCh38]
Chr1:150529222 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.350del (p.Gln117fs) |
deletion |
not provided [RCV002695185] |
Chr1:150553169 [GRCh38]
Chr1:150525645 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1593_1595del (p.Gly532del) |
deletion |
not provided [RCV003042869] |
Chr1:150556635..150556637 [GRCh38]
Chr1:150529111..150529113 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1265G>A (p.Cys422Tyr) |
single nucleotide variant |
not provided [RCV002668099] |
Chr1:150555459 [GRCh38]
Chr1:150527935 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1862-18G>A |
single nucleotide variant |
not provided [RCV002572452] |
Chr1:150557132 [GRCh38]
Chr1:150529608 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2688G>A (p.Arg896=) |
single nucleotide variant |
not provided [RCV002666971] |
Chr1:150559090 [GRCh38]
Chr1:150531566 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.79-15T>C |
single nucleotide variant |
not provided [RCV003040447] |
Chr1:150552883 [GRCh38]
Chr1:150525359 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.3007A>C (p.Thr1003Pro) |
single nucleotide variant |
not provided [RCV002830030] |
Chr1:150559824 [GRCh38]
Chr1:150532300 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2581_2589dup (p.Gln863_Arg864insGlyIleGln) |
duplication |
not provided [RCV002805779] |
Chr1:150558981..150558982 [GRCh38]
Chr1:150531457..150531458 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1377C>T (p.Pro459=) |
single nucleotide variant |
not provided [RCV002573004] |
Chr1:150556167 [GRCh38]
Chr1:150528643 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2379C>T (p.Ser793=) |
single nucleotide variant |
not provided [RCV003042537] |
Chr1:150558146 [GRCh38]
Chr1:150530622 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.788C>T (p.Pro263Leu) |
single nucleotide variant |
not provided [RCV002645787] |
Chr1:150553779 [GRCh38]
Chr1:150526255 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.912G>C (p.Ser304=) |
single nucleotide variant |
not provided [RCV002663609] |
Chr1:150553903 [GRCh38]
Chr1:150526379 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1315G>A (p.Asp439Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002853845] |
Chr1:150555509 [GRCh38]
Chr1:150527985 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1132-11C>T |
single nucleotide variant |
not provided [RCV002573105] |
Chr1:150554354 [GRCh38]
Chr1:150526830 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2560-24_2560-12del |
deletion |
not provided [RCV002667268] |
Chr1:150558937..150558949 [GRCh38]
Chr1:150531413..150531425 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.874C>A (p.Pro292Thr) |
single nucleotide variant |
not provided [RCV002710150] |
Chr1:150553865 [GRCh38]
Chr1:150526341 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.556A>G (p.Ile186Val) |
single nucleotide variant |
not provided [RCV002765440] |
Chr1:150553547 [GRCh38]
Chr1:150526023 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.355C>T (p.Arg119Trp) |
single nucleotide variant |
not provided [RCV002932452] |
Chr1:150553174 [GRCh38]
Chr1:150525650 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1677T>C (p.Arg559=) |
single nucleotide variant |
not provided [RCV002573971] |
Chr1:150556721 [GRCh38]
Chr1:150529197 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2568C>G (p.Ala856=) |
single nucleotide variant |
not provided [RCV002711099] |
Chr1:150558970 [GRCh38]
Chr1:150531446 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1861+10dup |
duplication |
not provided [RCV002595911] |
Chr1:150557059..150557060 [GRCh38]
Chr1:150529535..150529536 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1750-18A>G |
single nucleotide variant |
not provided [RCV002668003] |
Chr1:150556921 [GRCh38]
Chr1:150529397 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1997C>T (p.Ala666Val) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003340561]|Ectopia lentis et pupillae [RCV003340562]|Inborn genetic diseases [RCV002919207]|not provided [RCV002919206] |
Chr1:150557285 [GRCh38]
Chr1:150529761 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2177A>T (p.Tyr726Phe) |
single nucleotide variant |
not provided [RCV002829853] |
Chr1:150557623 [GRCh38]
Chr1:150530099 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1263C>T (p.Asn421=) |
single nucleotide variant |
not provided [RCV002958829] |
Chr1:150555457 [GRCh38]
Chr1:150527933 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.3189A>C (p.Ala1063=) |
single nucleotide variant |
not provided [RCV002918197] |
Chr1:150560160 [GRCh38]
Chr1:150532636 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.787C>G (p.Pro263Ala) |
single nucleotide variant |
not provided [RCV002663290] |
Chr1:150553778 [GRCh38]
Chr1:150526254 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2081G>A (p.Arg694His) |
single nucleotide variant |
not provided [RCV002572913] |
Chr1:150557527 [GRCh38]
Chr1:150530003 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1660G>A (p.Val554Ile) |
single nucleotide variant |
not provided [RCV002790089] |
Chr1:150556704 [GRCh38]
Chr1:150529180 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1859C>T (p.Pro620Leu) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003340509]|Ectopia lentis et pupillae [RCV003340510]|Inborn genetic diseases [RCV002583082]|not provided [RCV002572845] |
Chr1:150557048 [GRCh38]
Chr1:150529524 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2763+13C>A |
single nucleotide variant |
not provided [RCV002872736] |
Chr1:150559178 [GRCh38]
Chr1:150531654 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1346A>T (p.Asp449Val) |
single nucleotide variant |
not provided [RCV003041702] |
Chr1:150555540 [GRCh38]
Chr1:150528016 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2209C>G (p.Arg737Gly) |
single nucleotide variant |
not provided [RCV002872044] |
Chr1:150557976 [GRCh38]
Chr1:150530452 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2389G>A (p.Val797Met) |
single nucleotide variant |
not provided [RCV002663652] |
Chr1:150558479 [GRCh38]
Chr1:150530955 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1881C>T (p.Pro627=) |
single nucleotide variant |
not provided [RCV002765692] |
Chr1:150557169 [GRCh38]
Chr1:150529645 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.3010C>A (p.Leu1004Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002874645] |
Chr1:150559827 [GRCh38]
Chr1:150532303 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2342G>A (p.Arg781His) |
single nucleotide variant |
not provided [RCV003084420] |
Chr1:150558109 [GRCh38]
Chr1:150530585 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1117G>A (p.Ala373Thr) |
single nucleotide variant |
not provided [RCV003024209] |
Chr1:150554108 [GRCh38]
Chr1:150526584 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1771C>T (p.Pro591Ser) |
single nucleotide variant |
not provided [RCV003004998] |
Chr1:150556960 [GRCh38]
Chr1:150529436 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.426G>A (p.Ala142=) |
single nucleotide variant |
not provided [RCV002595468] |
Chr1:150553245 [GRCh38]
Chr1:150525721 [GRCh37]
Chr1:1q21.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_019032.6(ADAMTSL4):c.754C>A (p.His252Asn) |
single nucleotide variant |
not provided [RCV002625154] |
Chr1:150553745 [GRCh38]
Chr1:150526221 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2809T>C (p.Cys937Arg) |
single nucleotide variant |
not provided [RCV002954106] |
Chr1:150559332 [GRCh38]
Chr1:150531808 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3069A>T (p.Gln1023His) |
single nucleotide variant |
not provided [RCV003056327] |
Chr1:150559886 [GRCh38]
Chr1:150532362 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1751T>A (p.Met584Lys) |
single nucleotide variant |
not provided [RCV002982694] |
Chr1:150556940 [GRCh38]
Chr1:150529416 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2266G>A (p.Gly756Arg) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003340638]|Ectopia lentis et pupillae [RCV003340639]|Inborn genetic diseases [RCV002647251]|not provided [RCV002624087] |
Chr1:150558033 [GRCh38]
Chr1:150530509 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1347C>T (p.Asp449=) |
single nucleotide variant |
not provided [RCV002917428] |
Chr1:150555541 [GRCh38]
Chr1:150528017 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2065T>C (p.Phe689Leu) |
single nucleotide variant |
not provided [RCV003006300] |
Chr1:150557511 [GRCh38]
Chr1:150529987 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.384C>T (p.Pro128=) |
single nucleotide variant |
not provided [RCV002642469] |
Chr1:150553203 [GRCh38]
Chr1:150525679 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.602del (p.Ala201fs) |
deletion |
not provided [RCV002575296] |
Chr1:150553593 [GRCh38]
Chr1:150526069 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2313G>A (p.Arg771=) |
single nucleotide variant |
not provided [RCV002791337] |
Chr1:150558080 [GRCh38]
Chr1:150530556 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1132-13C>A |
single nucleotide variant |
not provided [RCV002663562] |
Chr1:150554352 [GRCh38]
Chr1:150526828 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.3015C>T (p.Ser1005=) |
single nucleotide variant |
not provided [RCV003056450] |
Chr1:150559832 [GRCh38]
Chr1:150532308 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.475T>C (p.Tyr159His) |
single nucleotide variant |
not provided [RCV002957364] |
Chr1:150553466 [GRCh38]
Chr1:150525942 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1861G>C (p.Glu621Gln) |
single nucleotide variant |
not provided [RCV002982596] |
Chr1:150557050 [GRCh38]
Chr1:150529526 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2009G>A (p.Arg670Gln) |
single nucleotide variant |
not provided [RCV003041283] |
Chr1:150557297 [GRCh38]
Chr1:150529773 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.432G>A (p.Arg144=) |
single nucleotide variant |
not provided [RCV002852228] |
Chr1:150553251 [GRCh38]
Chr1:150525727 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.925C>G (p.Arg309Gly) |
single nucleotide variant |
not provided [RCV002667803] |
Chr1:150553916 [GRCh38]
Chr1:150526392 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1610A>G (p.Asn537Ser) |
single nucleotide variant |
not provided [RCV002745657] |
Chr1:150556654 [GRCh38]
Chr1:150529130 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1097G>A (p.Gly366Glu) |
single nucleotide variant |
not provided [RCV002890111] |
Chr1:150554088 [GRCh38]
Chr1:150526564 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.845G>C (p.Arg282Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002664819] |
Chr1:150553836 [GRCh38]
Chr1:150526312 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1576+10C>G |
single nucleotide variant |
not provided [RCV002595747] |
Chr1:150556376 [GRCh38]
Chr1:150528852 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1969C>A (p.Pro657Thr) |
single nucleotide variant |
not provided [RCV003043330] |
Chr1:150557257 [GRCh38]
Chr1:150529733 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2694T>C (p.Pro898=) |
single nucleotide variant |
not provided [RCV002919262] |
Chr1:150559096 [GRCh38]
Chr1:150531572 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.984G>A (p.Leu328=) |
single nucleotide variant |
not provided [RCV003023369] |
Chr1:150553975 [GRCh38]
Chr1:150526451 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.3162_3163insT (p.Thr1055fs) |
insertion |
not provided [RCV002596068] |
Chr1:150560133..150560134 [GRCh38]
Chr1:150532609..150532610 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3155C>T (p.Pro1052Leu) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003340570]|Ectopia lentis et pupillae [RCV003340571]|Inborn genetic diseases [RCV003170700]|not provided [RCV002958659] |
Chr1:150560126 [GRCh38]
Chr1:150532602 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3124C>G (p.Leu1042Val) |
single nucleotide variant |
not provided [RCV003082608] |
Chr1:150560095 [GRCh38]
Chr1:150532571 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2235C>G (p.His745Gln) |
single nucleotide variant |
not provided [RCV002667748] |
Chr1:150558002 [GRCh38]
Chr1:150530478 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.141G>A (p.Trp47Ter) |
single nucleotide variant |
not provided [RCV002872409] |
Chr1:150552960 [GRCh38]
Chr1:150525436 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1259T>G (p.Leu420Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002929712] |
Chr1:150555453 [GRCh38]
Chr1:150527929 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1910G>A (p.Arg637Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002743795] |
Chr1:150557198 [GRCh38]
Chr1:150529674 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1733A>C (p.Gln578Pro) |
single nucleotide variant |
not provided [RCV003057836] |
Chr1:150556777 [GRCh38]
Chr1:150529253 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2287C>G (p.Pro763Ala) |
single nucleotide variant |
not provided [RCV002572866] |
Chr1:150558054 [GRCh38]
Chr1:150530530 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3122C>T (p.Pro1041Leu) |
single nucleotide variant |
not provided [RCV002766461] |
Chr1:150560093 [GRCh38]
Chr1:150532569 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1749+18G>A |
single nucleotide variant |
not provided [RCV002872305] |
Chr1:150556811 [GRCh38]
Chr1:150529287 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.595C>T (p.Pro199Ser) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003340579]|Ectopia lentis et pupillae [RCV003340580]|Inborn genetic diseases [RCV002985508]|not provided [RCV002985507] |
Chr1:150553586 [GRCh38]
Chr1:150526062 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.712A>C (p.Thr238Pro) |
single nucleotide variant |
not provided [RCV002829598] |
Chr1:150553703 [GRCh38]
Chr1:150526179 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.991G>C (p.Asp331His) |
single nucleotide variant |
not provided [RCV002982262] |
Chr1:150553982 [GRCh38]
Chr1:150526458 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1907C>T (p.Ala636Val) |
single nucleotide variant |
not provided [RCV002851911] |
Chr1:150557195 [GRCh38]
Chr1:150529671 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1285T>C (p.Phe429Leu) |
single nucleotide variant |
not provided [RCV003082182] |
Chr1:150555479 [GRCh38]
Chr1:150527955 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.523C>G (p.Pro175Ala) |
single nucleotide variant |
not provided [RCV002700940] |
Chr1:150553514 [GRCh38]
Chr1:150525990 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2772C>T (p.Ser924=) |
single nucleotide variant |
not provided [RCV002575810] |
Chr1:150559295 [GRCh38]
Chr1:150531771 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2323A>G (p.Thr775Ala) |
single nucleotide variant |
not provided [RCV002828517] |
Chr1:150558090 [GRCh38]
Chr1:150530566 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1017G>T (p.Leu339=) |
single nucleotide variant |
not provided [RCV002666540] |
Chr1:150554008 [GRCh38]
Chr1:150526484 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.79-8C>G |
single nucleotide variant |
not provided [RCV003024653] |
Chr1:150552890 [GRCh38]
Chr1:150525366 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2838C>G (p.Asn946Lys) |
single nucleotide variant |
not provided [RCV002594474] |
Chr1:150559361 [GRCh38]
Chr1:150531837 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.403G>A (p.Glu135Lys) |
single nucleotide variant |
not provided [RCV002766511] |
Chr1:150553222 [GRCh38]
Chr1:150525698 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.445C>T (p.Arg149Ter) |
single nucleotide variant |
not provided [RCV002575350] |
Chr1:150553436 [GRCh38]
Chr1:150525912 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.288C>A (p.Leu96=) |
single nucleotide variant |
not provided [RCV003063761] |
Chr1:150553107 [GRCh38]
Chr1:150525583 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.425C>T (p.Ala142Val) |
single nucleotide variant |
not provided [RCV003086762] |
Chr1:150553244 [GRCh38]
Chr1:150525720 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.468G>A (p.Met156Ile) |
single nucleotide variant |
not provided [RCV003087283] |
Chr1:150553459 [GRCh38]
Chr1:150525935 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1006G>C (p.Gly336Arg) |
single nucleotide variant |
not provided [RCV003047403] |
Chr1:150553997 [GRCh38]
Chr1:150526473 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2088G>A (p.Ser696=) |
single nucleotide variant |
not provided [RCV002582016] |
Chr1:150557534 [GRCh38]
Chr1:150530010 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.605A>G (p.Glu202Gly) |
single nucleotide variant |
not provided [RCV003011558] |
Chr1:150553596 [GRCh38]
Chr1:150526072 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2943+20G>A |
single nucleotide variant |
not provided [RCV002597711] |
Chr1:150559486 [GRCh38]
Chr1:150531962 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.76del (p.Glu26fs) |
deletion |
not provided [RCV003048463] |
Chr1:150552597 [GRCh38]
Chr1:150525073 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1372-4C>T |
single nucleotide variant |
not provided [RCV002630296] |
Chr1:150556158 [GRCh38]
Chr1:150528634 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.3089-7del |
deletion |
not provided [RCV002672238] |
Chr1:150560053 [GRCh38]
Chr1:150532529 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2719C>T (p.Pro907Ser) |
single nucleotide variant |
not provided [RCV002633138] |
Chr1:150559121 [GRCh38]
Chr1:150531597 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1862-19C>T |
single nucleotide variant |
not provided [RCV002581373] |
Chr1:150557131 [GRCh38]
Chr1:150529607 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1153G>C (p.Asp385His) |
single nucleotide variant |
not provided [RCV002899796] |
Chr1:150554386 [GRCh38]
Chr1:150526862 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1141C>A (p.Pro381Thr) |
single nucleotide variant |
not provided [RCV002967032] |
Chr1:150554374 [GRCh38]
Chr1:150526850 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2643G>A (p.Gly881=) |
single nucleotide variant |
not provided [RCV002581689] |
Chr1:150559045 [GRCh38]
Chr1:150531521 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.3019C>T (p.Arg1007Ter) |
single nucleotide variant |
not provided [RCV002630982] |
Chr1:150559836 [GRCh38]
Chr1:150532312 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.3081G>A (p.Gln1027=) |
single nucleotide variant |
not provided [RCV003091710] |
Chr1:150559898 [GRCh38]
Chr1:150532374 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1371+7G>A |
single nucleotide variant |
not provided [RCV002746220] |
Chr1:150555572 [GRCh38]
Chr1:150528048 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1198A>C (p.Met400Leu) |
single nucleotide variant |
not provided [RCV002922056] |
Chr1:150554431 [GRCh38]
Chr1:150526907 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.679C>A (p.Gln227Lys) |
single nucleotide variant |
not provided [RCV002598194] |
Chr1:150553670 [GRCh38]
Chr1:150526146 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1931G>A (p.Arg644His) |
single nucleotide variant |
not provided [RCV002576796] |
Chr1:150557219 [GRCh38]
Chr1:150529695 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.20+18G>A |
single nucleotide variant |
not provided [RCV002597976] |
Chr1:150552326 [GRCh38]
Chr1:150524802 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.881T>G (p.Val294Gly) |
single nucleotide variant |
not provided [RCV002810476] |
Chr1:150553872 [GRCh38]
Chr1:150526348 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1961C>T (p.Pro654Leu) |
single nucleotide variant |
not provided [RCV002770608] |
Chr1:150557249 [GRCh38]
Chr1:150529725 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.466A>G (p.Met156Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002878759] |
Chr1:150553457 [GRCh38]
Chr1:150525933 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.292dup (p.Arg98fs) |
duplication |
not provided [RCV003028492] |
Chr1:150553106..150553107 [GRCh38]
Chr1:150525582..150525583 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2417G>A (p.Arg806Gln) |
single nucleotide variant |
not provided [RCV002715998] |
Chr1:150558507 [GRCh38]
Chr1:150530983 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2642G>A (p.Gly881Glu) |
single nucleotide variant |
not provided [RCV002746565] |
Chr1:150559044 [GRCh38]
Chr1:150531520 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2579C>T (p.Thr860Met) |
single nucleotide variant |
not provided [RCV002578429] |
Chr1:150558981 [GRCh38]
Chr1:150531457 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1537_1545delinsGCTAGGCCCAGCTAGGCCTAGCTAGGCCCAGCTAGGCCGGGGCTAG (p.Leu513_Ile515delinsAlaArgProSerTer) |
indel |
not provided [RCV002963186] |
Chr1:150556327..150556335 [GRCh38]
Chr1:150528803..150528811 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.957G>C (p.Thr319=) |
single nucleotide variant |
not provided [RCV002770515] |
Chr1:150553948 [GRCh38]
Chr1:150526424 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.240G>A (p.Pro80=) |
single nucleotide variant |
not provided [RCV002628837] |
Chr1:150553059 [GRCh38]
Chr1:150525535 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2119G>T (p.Ala707Ser) |
single nucleotide variant |
not provided [RCV002746742] |
Chr1:150557565 [GRCh38]
Chr1:150530041 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2130G>T (p.Arg710Ser) |
single nucleotide variant |
not provided [RCV002646581] |
Chr1:150557576 [GRCh38]
Chr1:150530052 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2224G>A (p.Gly742Ser) |
single nucleotide variant |
not provided [RCV002715534] |
Chr1:150557991 [GRCh38]
Chr1:150530467 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2491C>G (p.Pro831Ala) |
single nucleotide variant |
not provided [RCV002578801] |
Chr1:150558581 [GRCh38]
Chr1:150531057 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1730C>T (p.Thr577Ile) |
single nucleotide variant |
not provided [RCV003045625] |
Chr1:150556774 [GRCh38]
Chr1:150529250 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.745dup (p.Leu249fs) |
duplication |
not provided [RCV002630206] |
Chr1:150553730..150553731 [GRCh38]
Chr1:150526206..150526207 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.3064A>G (p.Ser1022Gly) |
single nucleotide variant |
not provided [RCV002671685] |
Chr1:150559881 [GRCh38]
Chr1:150532357 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2644G>T (p.Glu882Ter) |
single nucleotide variant |
not provided [RCV002810447] |
Chr1:150559046 [GRCh38]
Chr1:150531522 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2861C>T (p.Ser954Phe) |
single nucleotide variant |
not provided [RCV003060600] |
Chr1:150559384 [GRCh38]
Chr1:150531860 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.519G>A (p.Arg173=) |
single nucleotide variant |
not provided [RCV002898814] |
Chr1:150553510 [GRCh38]
Chr1:150525986 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2177+12G>A |
single nucleotide variant |
not provided [RCV002597571] |
Chr1:150557635 [GRCh38]
Chr1:150530111 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2950C>T (p.Arg984Cys) |
single nucleotide variant |
Ectopia lentis 2, isolated, autosomal recessive [RCV003340507]|Ectopia lentis et pupillae [RCV003340508]|Inborn genetic diseases [RCV003269179]|not provided [RCV002576643] |
Chr1:150559767 [GRCh38]
Chr1:150532243 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1883C>A (p.Pro628Gln) |
single nucleotide variant |
not provided [RCV002647243] |
Chr1:150557171 [GRCh38]
Chr1:150529647 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1234+7T>C |
single nucleotide variant |
not provided [RCV002834784] |
Chr1:150554474 [GRCh38]
Chr1:150526950 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2382+1G>A |
single nucleotide variant |
not provided [RCV003030471] |
Chr1:150558150 [GRCh38]
Chr1:150530626 [GRCh37]
Chr1:1q21.2 |
likely pathogenic |
| NM_019032.6(ADAMTSL4):c.1825C>T (p.Pro609Ser) |
single nucleotide variant |
not provided [RCV002627592] |
Chr1:150557014 [GRCh38]
Chr1:150529490 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2560-14C>G |
single nucleotide variant |
not provided [RCV002720094] |
Chr1:150558948 [GRCh38]
Chr1:150531424 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2320A>G (p.Ile774Val) |
single nucleotide variant |
not provided [RCV002938355] |
Chr1:150558087 [GRCh38]
Chr1:150530563 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2393G>A (p.Arg798Gln) |
single nucleotide variant |
not provided [RCV003063596] |
Chr1:150558483 [GRCh38]
Chr1:150530959 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.363G>A (p.Arg121=) |
single nucleotide variant |
not provided [RCV002715258] |
Chr1:150553182 [GRCh38]
Chr1:150525658 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.55C>T (p.Pro19Ser) |
single nucleotide variant |
not provided [RCV002770899] |
Chr1:150552577 [GRCh38]
Chr1:150525053 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2265G>C (p.Gly755=) |
single nucleotide variant |
not provided [RCV002720159] |
Chr1:150558032 [GRCh38]
Chr1:150530508 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2264G>C (p.Gly755Ala) |
single nucleotide variant |
not provided [RCV002833345] |
Chr1:150558031 [GRCh38]
Chr1:150530507 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1600T>G (p.Ser534Ala) |
single nucleotide variant |
not provided [RCV003046358] |
Chr1:150556644 [GRCh38]
Chr1:150529120 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1152_1159dup (p.Arg387fs) |
duplication |
not provided [RCV003048657] |
Chr1:150554382..150554383 [GRCh38]
Chr1:150526858..150526859 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.743C>T (p.Pro248Leu) |
single nucleotide variant |
not provided [RCV003031221] |
Chr1:150553734 [GRCh38]
Chr1:150526210 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1234+20_1234+21del |
deletion |
not provided [RCV002646025] |
Chr1:150554485..150554486 [GRCh38]
Chr1:150526961..150526962 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1749+10G>T |
single nucleotide variant |
not provided [RCV002715547] |
Chr1:150556803 [GRCh38]
Chr1:150529279 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.252C>T (p.Leu84=) |
single nucleotide variant |
not provided [RCV002650734] |
Chr1:150553071 [GRCh38]
Chr1:150525547 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2174C>T (p.Pro725Leu) |
single nucleotide variant |
not provided [RCV002598101] |
Chr1:150557620 [GRCh38]
Chr1:150530096 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.780A>G (p.Thr260=) |
single nucleotide variant |
not provided [RCV002675504] |
Chr1:150553771 [GRCh38]
Chr1:150526247 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1235-5C>T |
single nucleotide variant |
not provided [RCV002627608] |
Chr1:150555424 [GRCh38]
Chr1:150527900 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2177+16C>T |
single nucleotide variant |
not provided [RCV002671702] |
Chr1:150557639 [GRCh38]
Chr1:150530115 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1075A>G (p.Ser359Gly) |
single nucleotide variant |
not provided [RCV002806290] |
Chr1:150554066 [GRCh38]
Chr1:150526542 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2003G>A (p.Trp668Ter) |
single nucleotide variant |
not provided [RCV003046796] |
Chr1:150557291 [GRCh38]
Chr1:150529767 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1282C>T (p.Arg428Cys) |
single nucleotide variant |
not provided [RCV003046352] |
Chr1:150555476 [GRCh38]
Chr1:150527952 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1234+6G>C |
single nucleotide variant |
not provided [RCV002631382] |
Chr1:150554473 [GRCh38]
Chr1:150526949 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3052C>T (p.Arg1018Cys) |
single nucleotide variant |
not provided [RCV002583645] |
Chr1:150559869 [GRCh38]
Chr1:150532345 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1234+12T>G |
single nucleotide variant |
not provided [RCV002583847] |
Chr1:150554479 [GRCh38]
Chr1:150526955 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2047+18G>T |
single nucleotide variant |
not provided [RCV002605298] |
Chr1:150557353 [GRCh38]
Chr1:150529829 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1371+13A>T |
single nucleotide variant |
not provided [RCV002584091] |
Chr1:150555578 [GRCh38]
Chr1:150528054 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1667G>C (p.Arg556Pro) |
single nucleotide variant |
not provided [RCV003052226] |
Chr1:150556711 [GRCh38]
Chr1:150529187 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.251T>C (p.Leu84Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002656979] |
Chr1:150553070 [GRCh38]
Chr1:150525546 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1539C>T (p.Leu513=) |
single nucleotide variant |
not provided [RCV002725512] |
Chr1:150556329 [GRCh38]
Chr1:150528805 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1959C>T (p.Ala653=) |
single nucleotide variant |
not provided [RCV003049871] |
Chr1:150557247 [GRCh38]
Chr1:150529723 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2289G>A (p.Pro763=) |
single nucleotide variant |
not provided [RCV002583823] |
Chr1:150558056 [GRCh38]
Chr1:150530532 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2041G>C (p.Gly681Arg) |
single nucleotide variant |
not provided [RCV002814640] |
Chr1:150557329 [GRCh38]
Chr1:150529805 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1132-18T>C |
single nucleotide variant |
not provided [RCV002583846] |
Chr1:150554347 [GRCh38]
Chr1:150526823 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.700G>A (p.Glu234Lys) |
single nucleotide variant |
not provided [RCV003049491] |
Chr1:150553691 [GRCh38]
Chr1:150526167 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.131A>G (p.Glu44Gly) |
single nucleotide variant |
not provided [RCV003032029] |
Chr1:150552950 [GRCh38]
Chr1:150525426 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.957G>A (p.Thr319=) |
single nucleotide variant |
not provided [RCV002943995] |
Chr1:150553948 [GRCh38]
Chr1:150526424 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.20+13dup |
duplication |
not provided [RCV002654097] |
Chr1:150552317..150552318 [GRCh38]
Chr1:150524793..150524794 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_019032.6(ADAMTSL4):c.1049C>T (p.Ser350Phe) |
single nucleotide variant |
not provided [RCV002606394] |
Chr1:150554040 [GRCh38]
Chr1:150526516 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2664G>T (p.Gly888=) |
single nucleotide variant |
not provided [RCV002608325] |
Chr1:150559066 [GRCh38]
Chr1:150531542 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.608C>G (p.Pro203Arg) |
single nucleotide variant |
not provided [RCV002942357] |
Chr1:150553599 [GRCh38]
Chr1:150526075 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.406del (p.Glu136fs) |
deletion |
not provided [RCV002605703] |
Chr1:150553224 [GRCh38]
Chr1:150525700 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.477T>A (p.Tyr159Ter) |
single nucleotide variant |
not provided [RCV002587748] |
Chr1:150553468 [GRCh38]
Chr1:150525944 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.3101A>G (p.Lys1034Arg) |
single nucleotide variant |
not provided [RCV002585966] |
Chr1:150560072 [GRCh38]
Chr1:150532548 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3165A>T (p.Thr1055=) |
single nucleotide variant |
not provided [RCV002609760] |
Chr1:150560136 [GRCh38]
Chr1:150532612 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2218G>A (p.Gly740Ser) |
single nucleotide variant |
not provided [RCV002584347] |
Chr1:150557985 [GRCh38]
Chr1:150530461 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2701C>T (p.Arg901Cys) |
single nucleotide variant |
not provided [RCV002609861] |
Chr1:150559103 [GRCh38]
Chr1:150531579 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.287dup (p.Arg98fs) |
duplication |
not provided [RCV002608607] |
Chr1:150553105..150553106 [GRCh38]
Chr1:150525581..150525582 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.1700G>A (p.Gly567Glu) |
single nucleotide variant |
not provided [RCV002608732] |
Chr1:150556744 [GRCh38]
Chr1:150529220 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.621C>T (p.Asn207=) |
single nucleotide variant |
not provided [RCV002608746] |
Chr1:150553612 [GRCh38]
Chr1:150526088 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.2448T>C (p.Asp816=) |
single nucleotide variant |
not provided [RCV002608808] |
Chr1:150558538 [GRCh38]
Chr1:150531014 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.3135G>C (p.Gln1045His) |
single nucleotide variant |
not provided [RCV002654328] |
Chr1:150560106 [GRCh38]
Chr1:150532582 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.826C>T (p.Arg276Cys) |
single nucleotide variant |
not provided [RCV002722013] |
Chr1:150553817 [GRCh38]
Chr1:150526293 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1877A>G (p.Glu626Gly) |
single nucleotide variant |
not provided [RCV002680910] |
Chr1:150557165 [GRCh38]
Chr1:150529641 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2033C>T (p.Ala678Val) |
single nucleotide variant |
not provided [RCV002588554] |
Chr1:150557321 [GRCh38]
Chr1:150529797 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1159dup (p.Arg387fs) |
duplication |
not provided [RCV002613099] |
Chr1:150554387..150554388 [GRCh38]
Chr1:150526863..150526864 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.2628C>T (p.Leu876=) |
single nucleotide variant |
not provided [RCV002603447] |
Chr1:150559030 [GRCh38]
Chr1:150531506 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.736C>A (p.Pro246Thr) |
single nucleotide variant |
not provided [RCV003092767] |
Chr1:150553727 [GRCh38]
Chr1:150526203 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.3210C>G (p.Pro1070=) |
single nucleotide variant |
not provided [RCV002588829] |
Chr1:150560181 [GRCh38]
Chr1:150532657 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1235-12C>A |
single nucleotide variant |
not provided [RCV002680925] |
Chr1:150555417 [GRCh38]
Chr1:150527893 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1480C>G (p.Arg494Gly) |
single nucleotide variant |
not provided [RCV002653402] |
Chr1:150556270 [GRCh38]
Chr1:150528746 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.764C>T (p.Ala255Val) |
single nucleotide variant |
not provided [RCV002603711] |
Chr1:150553755 [GRCh38]
Chr1:150526231 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1750-8C>T |
single nucleotide variant |
not provided [RCV002604988] |
Chr1:150556931 [GRCh38]
Chr1:150529407 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.933G>A (p.Gln311=) |
single nucleotide variant |
not provided [RCV002653677] |
Chr1:150553924 [GRCh38]
Chr1:150526400 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.1197C>A (p.Phe399Leu) |
single nucleotide variant |
not provided [RCV003070733] |
Chr1:150554430 [GRCh38]
Chr1:150526906 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2396G>A (p.Cys799Tyr) |
single nucleotide variant |
not provided [RCV002610315] |
Chr1:150558486 [GRCh38]
Chr1:150530962 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1295G>A (p.Arg432His) |
single nucleotide variant |
not provided [RCV002586175] |
Chr1:150555489 [GRCh38]
Chr1:150527965 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2943+13C>T |
single nucleotide variant |
not provided [RCV002590215] |
Chr1:150559479 [GRCh38]
Chr1:150531955 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.635C>A (p.Thr212Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003191686] |
Chr1:150553626 [GRCh38]
Chr1:150526102 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.907C>T (p.Pro303Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003221037] |
Chr1:150553898 [GRCh38]
Chr1:150526374 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.190G>A (p.Val64Met) |
single nucleotide variant |
not provided [RCV003141200] |
Chr1:150553009 [GRCh38]
Chr1:150525485 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2443G>A (p.Gly815Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003284714] |
Chr1:150558533 [GRCh38]
Chr1:150531009 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.1667G>A (p.Arg556Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003200511] |
Chr1:150556711 [GRCh38]
Chr1:150529187 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_019032.6(ADAMTSL4):c.-1G>A |
single nucleotide variant |
not provided [RCV003218929] |
Chr1:150552288 [GRCh38]
Chr1:150524764 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.376C>T (p.Arg126Ter) |
single nucleotide variant |
not provided [RCV003322000] |
Chr1:150553195 [GRCh38]
Chr1:150525671 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV003329522] |
Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1 |
pathogenic |
| NM_019032.6(ADAMTSL4):c.503T>C (p.Leu168Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003371723] |
Chr1:150553494 [GRCh38]
Chr1:150525970 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2608C>T (p.Leu870Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003363941] |
Chr1:150559010 [GRCh38]
Chr1:150531486 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2688del (p.Pro898fs) |
deletion |
See cases [RCV003334437] |
Chr1:150559089 [GRCh38]
Chr1:150531565 [GRCh37]
Chr1:1q21.2 |
likely pathogenic |
| NM_019032.6(ADAMTSL4):c.2988dup (p.Cys997fs) |
duplication |
Ectopia lentis et pupillae [RCV003338093] |
Chr1:150559804..150559805 [GRCh38]
Chr1:150532280..150532281 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_019032.6(ADAMTSL4):c.2659A>G (p.Thr887Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003339390] |
Chr1:150559061 [GRCh38]
Chr1:150531537 [GRCh37]
Chr1:1q21.2 |
likely benign |
