| NM_005202.4(COL8A2):c.1363C>A (p.Gln455Lys) |
single nucleotide variant |
Corneal dystrophy, Fuchs endothelial, 1 [RCV000018685]|Posterior polymorphous corneal dystrophy 2 [RCV000018686] |
Chr1:36098318 [GRCh38]
Chr1:36563919 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_005202.4(COL8A2):c.1349T>G (p.Leu450Trp) |
single nucleotide variant |
Corneal dystrophy, Fuchs endothelial, 1 [RCV000018687]|Posterior polymorphous corneal dystrophy 2 [RCV000018688] |
Chr1:36098332 [GRCh38]
Chr1:36563933 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4 |
copy number gain |
See cases [RCV000138892] |
Chr1:35934217..36821999 [GRCh38]
Chr1:36399818..37287600 [GRCh37]
Chr1:36172405..37060187 [NCBI36]
Chr1:1p34.3 |
likely pathogenic |
| GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 |
copy number gain |
See cases [RCV000138891] |
Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2 |
pathogenic |
| NM_005202.4(COL8A2):c.1363_1364delinsGT (p.Gln455Val) |
indel |
Corneal dystrophy, Fuchs endothelial, 1 [RCV000154184] |
Chr1:36098317..36098318 [GRCh38]
Chr1:36563918..36563919 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12 |
likely benign |
| NM_005202.4(COL8A2):c.1137T>C (p.Gly379=) |
single nucleotide variant |
not provided [RCV001546183] |
Chr1:36098544 [GRCh38]
Chr1:36564145 [GRCh37]
Chr1:1p34.3 |
benign|likely benign |
| GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1 |
copy number loss |
See cases [RCV000448022] |
Chr1:34830287..36945093 [GRCh37]
Chr1:1p34.3 |
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_005202.4(COL8A2):c.1517C>T (p.Thr506Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003248572] |
Chr1:36098164 [GRCh38]
Chr1:36563765 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.215C>T (p.Pro72Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003251926] |
Chr1:36099466 [GRCh38]
Chr1:36565067 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NC_000001.10:g.(?_33241563)_(46663513_?)dup |
duplication |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] |
Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1 |
uncertain significance |
| 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 1p35.2-34.3(chr1:31562164-37421958)x3 |
copy number gain |
not provided [RCV000748949] |
Chr1:31562164..37421958 [GRCh37]
Chr1:1p35.2-34.3 |
pathogenic |
| NM_005202.4(COL8A2):c.639C>T (p.Pro213=) |
single nucleotide variant |
not provided [RCV000898613] |
Chr1:36099042 [GRCh38]
Chr1:36564643 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_005202.4(COL8A2):c.807G>A (p.Val269=) |
single nucleotide variant |
COL8A2-related condition [RCV003943166]|not provided [RCV000967913] |
Chr1:36098874 [GRCh38]
Chr1:36564475 [GRCh37]
Chr1:1p34.3 |
benign|likely benign |
| NM_005202.4(COL8A2):c.1746C>T (p.Thr582=) |
single nucleotide variant |
not provided [RCV000950365] |
Chr1:36097935 [GRCh38]
Chr1:36563536 [GRCh37]
Chr1:1p34.3 |
benign|likely benign |
| GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1 |
uncertain significance |
| GRCh37/hg19 1p34.3(chr1:36496921-36829945)x3 |
copy number gain |
not provided [RCV000847964] |
Chr1:36496921..36829945 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1140G>C (p.Glu380Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003271324] |
Chr1:36098541 [GRCh38]
Chr1:36564142 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1485G>A (p.Gly495=) |
single nucleotide variant |
not provided [RCV001616981] |
Chr1:36098196 [GRCh38]
Chr1:36563797 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.-16-140T>C |
single nucleotide variant |
not provided [RCV001621405] |
Chr1:36100398 [GRCh38]
Chr1:36565999 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.193+186G>A |
single nucleotide variant |
not provided [RCV001724496] |
Chr1:36099864 [GRCh38]
Chr1:36565465 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.*12G>T |
single nucleotide variant |
Corneal dystrophy, Fuchs endothelial, 1 [RCV001658354]|Posterior polymorphous corneal dystrophy 2 [RCV001658355]|not provided [RCV001639904] |
Chr1:36097557 [GRCh38]
Chr1:36563158 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.1005C>G (p.Leu335=) |
single nucleotide variant |
COL8A2-related condition [RCV003984000]|not provided [RCV001609428] |
Chr1:36098676 [GRCh38]
Chr1:36564277 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.105G>A (p.Ala35=) |
single nucleotide variant |
not provided [RCV001657073] |
Chr1:36100138 [GRCh38]
Chr1:36565739 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.193+34C>T |
single nucleotide variant |
Corneal dystrophy, Fuchs endothelial, 1 [RCV001661301]|Posterior polymorphous corneal dystrophy 2 [RCV001661302]|not provided [RCV001696243] |
Chr1:36100016 [GRCh38]
Chr1:36565617 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.194-274A>G |
single nucleotide variant |
not provided [RCV001649932] |
Chr1:36099761 [GRCh38]
Chr1:36565362 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.1758C>T (p.Pro586=) |
single nucleotide variant |
not provided [RCV001665913] |
Chr1:36097923 [GRCh38]
Chr1:36563524 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.1505C>T (p.Thr502Met) |
single nucleotide variant |
COL8A2-related condition [RCV003976049]|not provided [RCV001710810] |
Chr1:36098176 [GRCh38]
Chr1:36563777 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.-16-275T>C |
single nucleotide variant |
not provided [RCV001546979] |
Chr1:36100533 [GRCh38]
Chr1:36566134 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_005202.4(COL8A2):c.193+67G>C |
single nucleotide variant |
not provided [RCV001644130] |
Chr1:36099983 [GRCh38]
Chr1:36565584 [GRCh37]
Chr1:1p34.3 |
benign |
| NC_000001.10:g.(?_33241563)_(46663513_?)dup |
duplication |
Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] |
Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1 |
uncertain significance |
| NM_005202.4(COL8A2):c.1876G>T (p.Val626Leu) |
single nucleotide variant |
not provided [RCV001354072] |
Chr1:36097805 [GRCh38]
Chr1:36563406 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1301G>A (p.Arg434His) |
single nucleotide variant |
not provided [RCV001485177] |
Chr1:36098380 [GRCh38]
Chr1:36563981 [GRCh37]
Chr1:1p34.3 |
benign|likely benign |
| NM_005202.4(COL8A2):c.194-87C>T |
single nucleotide variant |
not provided [RCV001618818] |
Chr1:36099574 [GRCh38]
Chr1:36565175 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.464G>A (p.Arg155Gln) |
single nucleotide variant |
not provided [RCV001652393] |
Chr1:36099217 [GRCh38]
Chr1:36564818 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.*13dup |
duplication |
not provided [RCV001797409] |
Chr1:36097555..36097556 [GRCh38]
Chr1:36563156..36563157 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_005202.4(COL8A2):c.1328C>T (p.Ala443Val) |
single nucleotide variant |
not provided [RCV001971165] |
Chr1:36098353 [GRCh38]
Chr1:36563954 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| GRCh37/hg19 1p34.3(chr1:36041366-39112237) |
copy number loss |
not specified [RCV002053236] |
Chr1:36041366..39112237 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| GRCh37/hg19 1p34.3(chr1:35950860-36635695) |
copy number gain |
not specified [RCV002053225] |
Chr1:35950860..36635695 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) |
copy number gain |
not specified [RCV002052781] |
Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33 |
pathogenic |
| NM_005202.4(COL8A2):c.1645G>A (p.Gly549Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002545816]|not provided [RCV001888005] |
Chr1:36098036 [GRCh38]
Chr1:36563637 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1280G>T (p.Gly427Val) |
single nucleotide variant |
not provided [RCV001989226] |
Chr1:36098401 [GRCh38]
Chr1:36564002 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1724C>T (p.Pro575Leu) |
single nucleotide variant |
not provided [RCV002078179] |
Chr1:36097957 [GRCh38]
Chr1:36563558 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.7G>A (p.Gly3Arg) |
single nucleotide variant |
not provided [RCV002192949] |
Chr1:36100236 [GRCh38]
Chr1:36565837 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.194-10T>C |
single nucleotide variant |
not provided [RCV002131868] |
Chr1:36099497 [GRCh38]
Chr1:36565098 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.194-7_194-4del |
microsatellite |
COL8A2-related condition [RCV003978745]|not provided [RCV002127358] |
Chr1:36099491..36099494 [GRCh38]
Chr1:36565092..36565095 [GRCh37]
Chr1:1p34.3 |
benign|likely benign |
| NM_005202.4(COL8A2):c.1323A>G (p.Ala441=) |
single nucleotide variant |
not provided [RCV002123032] |
Chr1:36098358 [GRCh38]
Chr1:36563959 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.297A>G (p.Lys99=) |
single nucleotide variant |
not provided [RCV002117859] |
Chr1:36099384 [GRCh38]
Chr1:36564985 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.1699G>A (p.Gly567Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002551280]|not provided [RCV002082777] |
Chr1:36097982 [GRCh38]
Chr1:36563583 [GRCh37]
Chr1:1p34.3 |
benign|uncertain significance |
| NM_005202.4(COL8A2):c.679C>T (p.Pro227Ser) |
single nucleotide variant |
not specified [RCV002281764] |
Chr1:36099002 [GRCh38]
Chr1:36564603 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1 |
copy number loss |
not provided [RCV002474552] |
Chr1:35104233..37357913 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_005202.4(COL8A2):c.1589C>A (p.Pro530His) |
single nucleotide variant |
Inborn genetic diseases [RCV002754328] |
Chr1:36098092 [GRCh38]
Chr1:36563693 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1809C>T (p.Ser603=) |
single nucleotide variant |
not provided [RCV002947567] |
Chr1:36097872 [GRCh38]
Chr1:36563473 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.1557_1565del (p.520PPG[3]) |
deletion |
not provided [RCV002996025] |
Chr1:36098116..36098124 [GRCh38]
Chr1:36563717..36563725 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1651G>A (p.Val551Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002905771] |
Chr1:36098030 [GRCh38]
Chr1:36563631 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1580C>A (p.Pro527Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002734512] |
Chr1:36098101 [GRCh38]
Chr1:36563702 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.262C>T (p.Arg88Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002859101] |
Chr1:36099419 [GRCh38]
Chr1:36565020 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1660G>A (p.Ala554Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002729280] |
Chr1:36098021 [GRCh38]
Chr1:36563622 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1586C>A (p.Pro529His) |
single nucleotide variant |
Inborn genetic diseases [RCV002707684] |
Chr1:36098095 [GRCh38]
Chr1:36563696 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.446G>A (p.Arg149Gln) |
single nucleotide variant |
not provided [RCV002593088] |
Chr1:36099235 [GRCh38]
Chr1:36564836 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.22C>T (p.Leu8=) |
single nucleotide variant |
COL8A2-related condition [RCV003926560]|not provided [RCV002952693] |
Chr1:36100221 [GRCh38]
Chr1:36565822 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.104C>T (p.Ala35Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002758751] |
Chr1:36100139 [GRCh38]
Chr1:36565740 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1759G>A (p.Ala587Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002758226] |
Chr1:36097922 [GRCh38]
Chr1:36563523 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1276A>C (p.Lys426Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002869321] |
Chr1:36098405 [GRCh38]
Chr1:36564006 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1648G>A (p.Gly550Ser) |
single nucleotide variant |
not provided [RCV002781327] |
Chr1:36098033 [GRCh38]
Chr1:36563634 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.565G>C (p.Glu189Gln) |
single nucleotide variant |
not provided [RCV003054672] |
Chr1:36099116 [GRCh38]
Chr1:36564717 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1114C>T (p.Arg372Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002799118]|not provided [RCV003730283] |
Chr1:36098567 [GRCh38]
Chr1:36564168 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.424C>T (p.Leu142Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002916353] |
Chr1:36099257 [GRCh38]
Chr1:36564858 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.71C>T (p.Pro24Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002983895] |
Chr1:36100172 [GRCh38]
Chr1:36565773 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.427C>T (p.Arg143Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003003493] |
Chr1:36099254 [GRCh38]
Chr1:36564855 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1249C>T (p.His417Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002763487] |
Chr1:36098432 [GRCh38]
Chr1:36564033 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1553C>T (p.Thr518Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002891283] |
Chr1:36098128 [GRCh38]
Chr1:36563729 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.835G>A (p.Gly279Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002699113] |
Chr1:36098846 [GRCh38]
Chr1:36564447 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.2053C>T (p.Leu685Phe) |
single nucleotide variant |
not provided [RCV002900608] |
Chr1:36097628 [GRCh38]
Chr1:36563229 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.968C>T (p.Pro323Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002813832] |
Chr1:36098713 [GRCh38]
Chr1:36564314 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.629T>G (p.Val210Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002722868] |
Chr1:36099052 [GRCh38]
Chr1:36564653 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1286C>A (p.Pro429Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003277670] |
Chr1:36098395 [GRCh38]
Chr1:36563996 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.*90C>A |
single nucleotide variant |
not provided [RCV003218995] |
Chr1:36097479 [GRCh38]
Chr1:36563080 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_005202.4(COL8A2):c.511A>G (p.Ile171Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003203321] |
Chr1:36099170 [GRCh38]
Chr1:36564771 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_005202.4(COL8A2):c.2003G>A (p.Arg668Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003203527] |
Chr1:36097678 [GRCh38]
Chr1:36563279 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.130A>G (p.Ile44Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003287125] |
Chr1:36100113 [GRCh38]
Chr1:36565714 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_005202.4(COL8A2):c.1487G>A (p.Arg496Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003359041] |
Chr1:36098194 [GRCh38]
Chr1:36563795 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_005202.4(COL8A2):c.1165G>A (p.Val389Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003376371] |
Chr1:36098516 [GRCh38]
Chr1:36564117 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1961G>A (p.Gly654Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003366531] |
Chr1:36097720 [GRCh38]
Chr1:36563321 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.281dup (p.Gly95fs) |
duplication |
COL8A2-related condition [RCV003416690] |
Chr1:36099399..36099400 [GRCh38]
Chr1:36565000..36565001 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| Single allele |
inversion |
Bilateral polymicrogyria [RCV003459046] |
Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3 |
likely pathogenic |
| NM_005202.4(COL8A2):c.1151G>A (p.Gly384Glu) |
single nucleotide variant |
not provided [RCV003406343] |
Chr1:36098530 [GRCh38]
Chr1:36564131 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.402C>T (p.Val134=) |
single nucleotide variant |
not provided [RCV003546397] |
Chr1:36099279 [GRCh38]
Chr1:36564880 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_005202.4(COL8A2):c.660G>A (p.Gly220=) |
single nucleotide variant |
not provided [RCV003693178] |
Chr1:36099021 [GRCh38]
Chr1:36564622 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.1084C>T (p.Leu362Phe) |
single nucleotide variant |
not provided [RCV003659176] |
Chr1:36098597 [GRCh38]
Chr1:36564198 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.71C>G (p.Pro24Arg) |
single nucleotide variant |
not provided [RCV003549594] |
Chr1:36100172 [GRCh38]
Chr1:36565773 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.129C>T (p.Tyr43=) |
single nucleotide variant |
not provided [RCV003561448] |
Chr1:36100114 [GRCh38]
Chr1:36565715 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_005202.4(COL8A2):c.1882G>A (p.Val628Ile) |
single nucleotide variant |
not provided [RCV003548735] |
Chr1:36097799 [GRCh38]
Chr1:36563400 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.90C>T (p.Gly30=) |
single nucleotide variant |
not provided [RCV003725612] |
Chr1:36100153 [GRCh38]
Chr1:36565754 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_005202.4(COL8A2):c.1802G>C (p.Gly601Ala) |
single nucleotide variant |
not provided [RCV003724724] |
Chr1:36097879 [GRCh38]
Chr1:36563480 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1836C>T (p.Phe612=) |
single nucleotide variant |
not provided [RCV003833126] |
Chr1:36097845 [GRCh38]
Chr1:36563446 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_005202.4(COL8A2):c.743del (p.Pro248fs) |
deletion |
not provided [RCV003553842] |
Chr1:36098938 [GRCh38]
Chr1:36564539 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.*3C>T |
single nucleotide variant |
COL8A2-related condition [RCV003939387] |
Chr1:36097566 [GRCh38]
Chr1:36563167 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_005202.4(COL8A2):c.1156C>A (p.Pro386Thr) |
single nucleotide variant |
not provided [RCV003726959] |
Chr1:36098525 [GRCh38]
Chr1:36564126 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.2095T>C (p.Leu699=) |
single nucleotide variant |
not provided [RCV003555441] |
Chr1:36097586 [GRCh38]
Chr1:36563187 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_005202.4(COL8A2):c.1702G>A (p.Glu568Lys) |
single nucleotide variant |
not provided [RCV003845133] |
Chr1:36097979 [GRCh38]
Chr1:36563580 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1057C>T (p.Pro353Ser) |
single nucleotide variant |
not provided [RCV003568261] |
Chr1:36098624 [GRCh38]
Chr1:36564225 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.96C>T (p.Ala32=) |
single nucleotide variant |
not provided [RCV003556622] |
Chr1:36100147 [GRCh38]
Chr1:36565748 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.1662C>T (p.Ala554=) |
single nucleotide variant |
COL8A2-related condition [RCV003914008] |
Chr1:36098019 [GRCh38]
Chr1:36563620 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_005202.4(COL8A2):c.30GCT[6] (p.Leu16_Val17insLeu) |
microsatellite |
COL8A2-related condition [RCV003914361] |
Chr1:36100198..36100199 [GRCh38]
Chr1:36565799..36565800 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_005202.4(COL8A2):c.*5C>T |
single nucleotide variant |
COL8A2-related condition [RCV003919630] |
Chr1:36097564 [GRCh38]
Chr1:36563165 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_005202.4(COL8A2):c.1069G>C (p.Gly357Arg) |
single nucleotide variant |
COL8A2-related condition [RCV003906927] |
Chr1:36098612 [GRCh38]
Chr1:36564213 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_005202.4(COL8A2):c.1004T>C (p.Leu335Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003361639] |
Chr1:36098677 [GRCh38]
Chr1:36564278 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1223C>T (p.Pro408Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003307253] |
Chr1:36098458 [GRCh38]
Chr1:36564059 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.605G>A (p.Arg202Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003304090] |
Chr1:36099076 [GRCh38]
Chr1:36564677 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_005202.4(COL8A2):c.1576C>T (p.Pro526Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003356426] |
Chr1:36098105 [GRCh38]
Chr1:36563706 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
