NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV000088659] |
ChrX:108187279 [GRCh38] ChrX:107430509 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_033641.4(COL4A6):c.1981T>C (p.Ser661Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003348572]|not provided [RCV001888950] |
ChrX:108180939 [GRCh38] ChrX:107424169 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.528T>G (p.Pro176=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271016]|not provided [RCV000840089]|not specified [RCV000727883] |
ChrX:108209987 [GRCh38] ChrX:107453217 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_033641.4(COL4A6):c.1427-95A>G |
single nucleotide variant |
not provided [RCV001766057] |
ChrX:108188772 [GRCh38] ChrX:107432002 [GRCh37] ChrX:Xq22.3 |
likely benign |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 |
copy number gain |
See cases [RCV000133911] |
ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
NM_033641.4(COL4A6):c.4359C>T (p.Phe1453=) |
single nucleotide variant |
not provided [RCV000951227]|not specified [RCV000593988] |
ChrX:108160629 [GRCh38] ChrX:107403859 [GRCh37] ChrX:Xq22.3 |
likely benign |
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 |
copy number gain |
See cases [RCV000050889] |
ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq22.3(chrX:108318888-108778027)x2 |
copy number gain |
See cases [RCV000050837] |
ChrX:108318888..108778027 [GRCh38] ChrX:107562118..108021257 [GRCh37] ChrX:107448774..107907913 [NCBI36] ChrX:Xq22.3 |
uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 |
copy number gain |
See cases [RCV000050810] |
ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 |
copy number loss |
See cases [RCV000050811] |
ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000050699] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
Global developmental delay [RCV000050386]|See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000050697] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 |
copy number loss |
See cases [RCV000051665] |
ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 |
copy number loss |
See cases [RCV000051666] |
ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 |
copy number loss |
See cases [RCV000051713] |
ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 |
copy number loss |
See cases [RCV000051668] |
ChrX:77544283..110500317 [GRCh38] ChrX:76799762..109743545 [GRCh37] ChrX:76686418..109630201 [NCBI36] ChrX:Xq21.1-23 |
pathogenic |
GRCh38/hg38 Xq22.1-22.3(chrX:102070552-108264804)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|See cases [RCV000051716] |
ChrX:102070552..108264804 [GRCh38] ChrX:101325524..107508034 [GRCh37] ChrX:101212180..107394690 [NCBI36] ChrX:Xq22.1-22.3 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] |
ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 |
copy number gain |
See cases [RCV000052324] |
ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 |
copy number gain |
See cases [RCV000052359] |
ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] |
ChrX:73008114..140201321 [GRCh38] ChrX:72227953..139283477 [GRCh37] ChrX:72144678..139111143 [NCBI36] ChrX:Xq13.2-27.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 |
copy number gain |
See cases [RCV000052325] |
ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 |
copy number gain |
See cases [RCV000052322] |
ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 |
copy number gain |
See cases [RCV000052438] |
ChrX:81261589..126519353 [GRCh38] ChrX:80517088..125653336 [GRCh37] ChrX:80403744..125481017 [NCBI36] ChrX:Xq21.1-25 |
pathogenic |
GRCh38/hg38 Xq22.3(chrX:107523862-108265579)x3 |
copy number gain |
See cases [RCV000052443] |
ChrX:107523862..108265579 [GRCh38] ChrX:106767092..107508809 [GRCh37] ChrX:106653748..107395465 [NCBI36] ChrX:Xq22.3 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001847.3(COL4A6):c.1793C>T (p.Pro598Leu) |
single nucleotide variant |
Malignant melanoma [RCV000073032] |
ChrX:108187257 [GRCh38] ChrX:107430487 [GRCh37] ChrX:107317143 [NCBI36] ChrX:Xq22.3 |
not provided |
NM_033641.4(COL4A6):c.5071T>G (p.Ter1691Glu) |
single nucleotide variant |
COL4A6-related condition [RCV003965228]|not provided [RCV000171443] |
ChrX:108157002 [GRCh38] ChrX:107400232 [GRCh37] ChrX:Xq22.3 |
likely pathogenic|likely benign |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 |
copy number gain |
See cases [RCV000133654] |
ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 |
copy number loss |
See cases [RCV000133792] |
ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
NM_000495.5(COL4A5):c.(?_-202)_(81_?)del |
deletion |
Alport syndrome 1, X-linked recessive [RCV000021086] |
ChrX:108437941..108440207 [GRCh38] ChrX:Xq22.3 |
pathogenic |
NM_033380.3(COL4A5):c.(?_1)_(81+1_82_1)del (p.?) |
deletion |
Alport syndrome 1, X-linked recessive [RCV000021087] |
ChrX:108310747..108440206 [GRCh38] ChrX:Xq22.3 |
pathogenic |
NM_000495.5(COL4A5):c.(?_-202)_(81_?)del |
deletion |
Alport syndrome 1, X-linked recessive [RCV000021089] |
ChrX:108437941..108440207 [GRCh38] ChrX:Xq22.3 |
pathogenic |
NM_000495.5(COL4A5):c.(?_-202)_(81_?)del |
deletion |
Alport syndrome 1, X-linked recessive [RCV000021090] |
ChrX:108438186..108440206 [GRCh38] ChrX:Xq22.3 |
pathogenic |
NM_000495.5(COL4A5):c.(?_-202)_(81_?)del |
deletion |
Alport syndrome 1, X-linked recessive [RCV000021091] |
ChrX:108437941..108440207 [GRCh38] ChrX:Xq22.3 |
pathogenic |
NM_000495.3(COL4A5):c.1-?_5058+?del |
deletion |
Alport syndrome 1, X-linked recessive [RCV000032046]|Alport syndrome, X-linked recessive [RCV000032046] |
ChrX:108438186..108696378 [GRCh38] ChrX:107681416..107939608 [GRCh37] ChrX:Xq22.3 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 |
copy number gain |
See cases [RCV000133744] |
ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 |
copy number gain |
See cases [RCV000134564] |
ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 |
copy number loss |
See cases [RCV000134570] |
ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 |
copy number loss |
See cases [RCV000133947] |
ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 |
copy number gain |
See cases [RCV000134025] |
ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 |
copy number loss |
See cases [RCV000135300] |
ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 |
copy number loss |
See cases [RCV000135321] |
ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 |
copy number loss |
See cases [RCV000135307] |
ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 |
copy number loss |
See cases [RCV000134958] |
ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 |
copy number loss |
See cases [RCV000135552] |
ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 |
copy number loss |
See cases [RCV000135454] |
ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 |
copy number loss |
See cases [RCV000136478] |
ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 |
copy number gain |
See cases [RCV000136552] |
ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 |
copy number loss |
See cases [RCV000136097] |
ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4 |
copy number gain |
See cases [RCV000136029] |
ChrX:100597687..111651116 [GRCh38] ChrX:99852684..110894344 [GRCh37] ChrX:99739340..110781000 [NCBI36] ChrX:Xq22.1-23 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 |
copy number loss |
See cases [RCV000136005] |
ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) |
copy number loss |
See cases [RCV000136094] |
ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 |
copy number loss |
See cases [RCV000136083] |
ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 |
copy number loss |
See cases [RCV000137113] |
ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 |
copy number gain |
See cases [RCV000136841] |
ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 |
copy number gain |
See cases [RCV000136791] |
ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 |
copy number gain |
See cases [RCV000137553] |
ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 |
copy number loss |
See cases [RCV000137415] |
ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 |
copy number loss |
See cases [RCV000137138] |
ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 |
copy number gain |
See cases [RCV000138020] |
ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 |
copy number loss |
See cases [RCV000137887] |
ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 |
copy number loss |
See cases [RCV000138678] |
ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 |
copy number loss |
See cases [RCV000138787] |
ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 |
copy number loss |
See cases [RCV000138541] |
ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 |
copy number loss |
See cases [RCV000139278] |
ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 |
copy number loss |
See cases [RCV000139351] |
ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28 |
pathogenic|likely benign |
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 |
copy number loss |
See cases [RCV000139400] |
ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 |
copy number gain |
See cases [RCV000139416] |
ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic|likely benign |
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 |
copy number gain |
See cases [RCV000139204] |
ChrX:93591590..112530092 [GRCh38] ChrX:92846589..111773320 [GRCh37] ChrX:92733245..111659976 [NCBI36] ChrX:Xq21.32-23 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 |
copy number gain |
See cases [RCV000139888] |
ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 |
copy number gain |
See cases [RCV000141400] |
ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 |
copy number gain |
See cases [RCV000141401] |
ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 |
copy number gain |
See cases [RCV000140786] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 |
copy number loss |
See cases [RCV000140787] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 |
copy number loss |
See cases [RCV000141825] |
ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 |
copy number loss |
See cases [RCV000142016] |
ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
GRCh38/hg38 Xq22.3(chrX:108213060-108266828)x2 |
copy number gain |
See cases [RCV000141671] |
ChrX:108213060..108266828 [GRCh38] ChrX:107456290..107510058 [GRCh37] ChrX:107342946..107396714 [NCBI36] ChrX:Xq22.3 |
uncertain significance |
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) |
copy number loss |
See cases [RCV000141742] |
ChrX:50289384..119297604 [GRCh38] ChrX:50032384..118431567 [GRCh37] ChrX:50049124..118315595 [NCBI36] ChrX:Xp11.22-q24 |
pathogenic |
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 |
copy number loss |
See cases [RCV000142372] |
ChrX:81109470..109442793 [GRCh38] ChrX:80364969..108686022 [GRCh37] ChrX:80251625..108572678 [NCBI36] ChrX:Xq21.1-23 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 |
copy number loss |
See cases [RCV000142337] |
ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 |
copy number loss |
See cases [RCV000142037] |
ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 |
copy number gain |
See cases [RCV000142134] |
ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24 |
pathogenic |
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 |
copy number loss |
See cases [RCV000142190] |
ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 |
copy number gain |
See cases [RCV000142625] |
ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 |
copy number loss |
See cases [RCV000143424] |
ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 |
copy number loss |
See cases [RCV000143349] |
ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 |
copy number loss |
See cases [RCV000143441] |
ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 |
copy number gain |
See cases [RCV000143433] |
ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 |
copy number loss |
See cases [RCV000143132] |
ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 |
copy number gain |
See cases [RCV000143219] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000148135] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000148141] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 |
copy number gain |
See cases [RCV000240143] |
ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 |
copy number gain |
See cases [RCV000239843] |
ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 |
copy number loss |
See cases [RCV000239832] |
ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 |
copy number gain |
See cases [RCV000239798] |
ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_033641.4(COL4A6):c.2653G>T (p.Val885Phe) |
single nucleotide variant |
COL4A6-related condition [RCV003935349]|not provided [RCV000513838] |
ChrX:108176874 [GRCh38] ChrX:107420104 [GRCh37] ChrX:Xq22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 |
copy number loss |
Premature ovarian failure [RCV000225336] |
ChrX:99931059..120328627 [GRCh37] ChrX:Xq22.1-24 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 |
copy number gain |
See cases [RCV000240106] |
ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 |
copy number gain |
See cases [RCV000239989] |
ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 |
copy number loss |
See cases [RCV000239902] |
ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 |
copy number gain |
See cases [RCV000239934] |
ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 |
copy number gain |
See cases [RCV000240552] |
ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 |
copy number gain |
See cases [RCV000240314] |
ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 |
copy number gain |
See cases [RCV000240464] |
ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_033641.4(COL4A6):c.3373C>T (p.Pro1125Ser) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002270141]|not provided [RCV000710883]|not specified [RCV000243818] |
ChrX:108170822 [GRCh38] ChrX:107414052 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.1360T>C (p.Ser454Pro) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV001658209]|not provided [RCV002058071]|not specified [RCV000241556] |
ChrX:108190458 [GRCh38] ChrX:107433688 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.2132-6G>A |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002270137]|not provided [RCV000945369]|not specified [RCV000246547] |
ChrX:108179444 [GRCh38] ChrX:107422674 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_033641.4(COL4A6):c.3760G>T (p.Ala1254Ser) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002270142]|not provided [RCV000844489]|not specified [RCV000244251] |
ChrX:108165418 [GRCh38] ChrX:107408648 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_033641.4(COL4A6):c.3855G>A (p.Ser1285=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002270143]|not provided [RCV000710884]|not specified [RCV000249223] |
ChrX:108164992 [GRCh38] ChrX:107408222 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.2808T>C (p.Arg936=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV001660205]|not provided [RCV002058073]|not specified [RCV000241857] |
ChrX:108175676 [GRCh38] ChrX:107418906 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.3078C>T (p.Gly1026=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002270139]|not provided [RCV002058074]|not specified [RCV000246852] |
ChrX:108174500 [GRCh38] ChrX:107417730 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.3139-4G>A |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002270140]|not provided [RCV000878001]|not specified [RCV000251806] |
ChrX:108172536 [GRCh38] ChrX:107415766 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.4082T>C (p.Leu1361Pro) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002270144]|not provided [RCV000710885]|not specified [RCV000254199] |
ChrX:108163026 [GRCh38] ChrX:107406256 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.4525+14C>G |
single nucleotide variant |
not provided [RCV002518615]|not specified [RCV000244565] |
ChrX:108160449 [GRCh38] ChrX:107403679 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4812+8C>T |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002270145]|not provided [RCV002058075]|not specified [RCV000249514] |
ChrX:108159454 [GRCh38] ChrX:107402684 [GRCh37] ChrX:Xq22.3 |
benign |
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 |
copy number gain |
See cases [RCV000240148] |
ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
NM_033641.4(COL4A6):c.3402C>T (p.Ala1134=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV001660206]|not provided [RCV000991641]|not specified [RCV000247164] |
ChrX:108170700 [GRCh38] ChrX:107413930 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.604T>C (p.Leu202=) |
single nucleotide variant |
not provided [RCV002518616]|not specified [RCV000254509] |
ChrX:108206523 [GRCh38] ChrX:107449753 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_033641.4(COL4A6):c.3481A>G (p.Ile1161Val) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV001660207]|not provided [RCV000991642]|not specified [RCV000252271] |
ChrX:108170621 [GRCh38] ChrX:107413851 [GRCh37] ChrX:Xq22.3 |
benign |
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 |
copy number gain |
See cases [RCV000240541] |
ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_033641.4(COL4A6):c.2132-6G>T |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002270138]|not provided [RCV002058072]|not specified [RCV000249887] |
ChrX:108179444 [GRCh38] ChrX:107422674 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 |
copy number gain |
not provided [RCV000488046] |
ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25 |
uncertain significance |
NM_033641.4(COL4A6):c.1379G>A (p.Arg460Gln) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002270723]|not provided [RCV000843137]|not specified [RCV000598408] |
ChrX:108190439 [GRCh38] ChrX:107433669 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.1379G>T (p.Arg460Leu) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002270720]|not provided [RCV000878602]|not specified [RCV000593599] |
ChrX:108190439 [GRCh38] ChrX:107433669 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_033641.4(COL4A6):c.3537G>A (p.Pro1179=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271019]|not provided [RCV001662797]|not specified [RCV000730417] |
ChrX:108169973 [GRCh38] ChrX:107413203 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_033641.4(COL4A6):c.2371G>A (p.Gly791Ser) |
single nucleotide variant |
COL4A6-related condition [RCV003905503]|not provided [RCV000585227] |
ChrX:108178828 [GRCh38] ChrX:107422058 [GRCh37] ChrX:Xq22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_033641.4(COL4A6):c.2685G>T (p.Lys895Asn) |
single nucleotide variant |
not provided [RCV000730689] |
ChrX:108176842 [GRCh38] ChrX:107420072 [GRCh37] ChrX:Xq22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_033641.4(COL4A6):c.726A>C (p.Pro242=) |
single nucleotide variant |
not provided [RCV000728742] |
ChrX:108204374 [GRCh38] ChrX:107447604 [GRCh37] ChrX:Xq22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_033641.4(COL4A6):c.2671C>G (p.Leu891Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003160018]|not provided [RCV000595026] |
ChrX:108176856 [GRCh38] ChrX:107420086 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
See cases [RCV000449330] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) |
copy number loss |
See cases [RCV000449461] |
ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 |
copy number loss |
See cases [RCV000449365] |
ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 |
copy number gain |
See cases [RCV000449437] |
ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 |
copy number gain |
See cases [RCV000446270] |
ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 |
copy number gain |
See cases [RCV000446318] |
ChrX:95498487..129063677 [GRCh37] ChrX:Xq21.33-26.1 |
pathogenic |
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 |
copy number gain |
See cases [RCV000446471] |
ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 |
copy number loss |
See cases [RCV000446197] |
ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 |
copy number loss |
See cases [RCV000446712] |
ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 |
copy number loss |
See cases [RCV000446667] |
ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 |
copy number loss |
See cases [RCV000447490] |
ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28 |
pathogenic |
GRCh37/hg19 Xq22.3-23(chrX:107370001-110989043)x1 |
copy number loss |
See cases [RCV000447004] |
ChrX:107370001..110989043 [GRCh37] ChrX:Xq22.3-23 |
pathogenic |
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 |
copy number gain |
See cases [RCV000446151] |
ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
See cases [RCV000446932] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 |
copy number gain |
See cases [RCV000446310] |
ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 |
copy number gain |
See cases [RCV000447253] |
ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 |
copy number loss |
See cases [RCV000446026] |
ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 |
copy number loss |
See cases [RCV000445891] |
ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
See cases [RCV000448393] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 |
copy number gain |
See cases [RCV000448034] |
ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 |
copy number loss |
See cases [RCV000448652] |
ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 |
copy number gain |
See cases [RCV000448394] |
ChrX:72224362..139262228 [GRCh37] ChrX:Xq13.2-27.1 |
pathogenic |
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)x2 |
copy number gain |
See cases [RCV000448592] |
ChrX:103158718..111556067 [GRCh37] ChrX:Xq22.2-23 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 |
copy number loss |
See cases [RCV000448870] |
ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 |
copy number loss |
See cases [RCV000510382] |
ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 |
copy number loss |
See cases [RCV000510419] |
ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 |
copy number gain |
See cases [RCV000511787] |
ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 |
copy number loss |
See cases [RCV000511514] |
ChrX:86776682..114054291 [GRCh37] ChrX:Xq21.31-23 |
pathogenic|uncertain significance |
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 |
copy number loss |
See cases [RCV000511413] |
ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic|uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 |
copy number loss |
See cases [RCV000511482] |
ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) |
copy number gain |
See cases [RCV000512020] |
ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 |
copy number loss |
See cases [RCV000511490] |
ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 |
copy number gain |
See cases [RCV000510826] |
ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 |
copy number gain |
See cases [RCV000511307] |
ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 |
copy number loss |
See cases [RCV000510820] |
ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) |
copy number loss |
See cases [RCV000510947] |
ChrX:74560735..116609286 [GRCh37] ChrX:Xq13.3-24 |
pathogenic |
NM_033641.4(COL4A6):c.323C>T (p.Pro108Leu) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002270816]|not provided [RCV000878041]|not specified [RCV000602745] |
ChrX:108219699 [GRCh38] ChrX:107462929 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.4450G>A (p.Gly1484Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003251735]|not provided [RCV003561265] |
ChrX:108160538 [GRCh38] ChrX:107403768 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3970+3A>G |
single nucleotide variant |
not specified [RCV000600899] |
ChrX:108164874 [GRCh38] ChrX:107408104 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1676G>A (p.Arg559Gln) |
single nucleotide variant |
COL4A6-related condition [RCV003928011]|Hearing loss, X-linked 6 [RCV002270856]|not provided [RCV000945764] |
ChrX:108187939 [GRCh38] ChrX:107431169 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_033641.4(COL4A6):c.2039G>A (p.Arg680Gln) |
single nucleotide variant |
COL4A6-related condition [RCV003917950]|Hearing loss, X-linked 6 [RCV002270846]|not provided [RCV000950337] |
ChrX:108180607 [GRCh38] ChrX:107423837 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_033641.4(COL4A6):c.303T>C (p.Phe101=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002270847]|not provided [RCV000945328]|not specified [RCV000610017] |
ChrX:108219719 [GRCh38] ChrX:107462949 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.1125A>G (p.Glu375=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002270850]|not provided [RCV000952201] |
ChrX:108192528 [GRCh38] ChrX:107435758 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_033641.4(COL4A6):c.2292C>T (p.Gly764=) |
single nucleotide variant |
not specified [RCV000601868] |
ChrX:108179278 [GRCh38] ChrX:107422508 [GRCh37] ChrX:Xq22.3 |
likely benign |
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 |
copy number gain |
See cases [RCV000512365] |
ChrX:96499476..151870013 [GRCh37] ChrX:Xq21.33-28 |
uncertain significance |
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 |
copy number loss |
See cases [RCV000512372] |
ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
NM_033641.4(COL4A6):c.286A>T (p.Met96Leu) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002270849]|not provided [RCV000952202] |
ChrX:108219736 [GRCh38] ChrX:107462966 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_033641.4(COL4A6):c.4609C>T (p.Arg1537Cys) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002270825]|not provided [RCV001697920] |
ChrX:108159665 [GRCh38] ChrX:107402895 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 |
copy number gain |
See cases [RCV000512173] |
ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 |
copy number loss |
not provided [RCV000684357] |
ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 |
copy number loss |
not provided [RCV000684363] |
ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
GRCh37/hg19 Xq22.3(chrX:107478209-108016039)x3 |
copy number gain |
not provided [RCV000684372] |
ChrX:107478209..108016039 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 |
copy number loss |
not provided [RCV000846958] |
ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
NG_011977.1:g.1_264622del |
deletion |
X-linked Alport syndrome [RCV000735826] |
ChrX:108434924..108699545 [GRCh38] ChrX:Xq22.3 |
likely pathogenic |
NG_012059.2:g.1_302925del |
deletion |
X-linked Alport syndrome [RCV000735843] |
ChrX:108141550..108444474 [GRCh38] ChrX:Xq22.3 |
likely pathogenic |
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 |
copy number loss |
not provided [RCV000753606] |
ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 |
copy number loss |
not provided [RCV000753271] |
ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 |
copy number gain |
not provided [RCV000753272] |
ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 |
copy number loss |
not provided [RCV000753278] |
ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele |
duplication |
Autism [RCV000754365] |
ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 |
copy number gain |
not provided [RCV000753276] |
ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 |
copy number loss |
not provided [RCV000753556] |
ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
NM_033641.4(COL4A6):c.510+24C>T |
single nucleotide variant |
not provided [RCV001643308] |
ChrX:108211648 [GRCh38] ChrX:107454878 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.949-31C>G |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV001661303]|not provided [RCV001707914] |
ChrX:108194618 [GRCh38] ChrX:107437848 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.687+30C>A |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV001661304]|not provided [RCV001685553] |
ChrX:108205409 [GRCh38] ChrX:107448639 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.687+282C>A |
single nucleotide variant |
not provided [RCV001612742] |
ChrX:108205157 [GRCh38] ChrX:107448387 [GRCh37] ChrX:Xq22.3 |
benign |
NC_000023.10:g.36649710_136649711del100000002insG |
indel |
Heterotaxy, visceral, 1, X-linked [RCV000754886] |
ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3 |
pathogenic |
NM_033641.4(COL4A6):c.324+108A>G |
single nucleotide variant |
not provided [RCV001641918] |
ChrX:108219590 [GRCh38] ChrX:107462820 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.1952-264G>T |
single nucleotide variant |
not provided [RCV001608813] |
ChrX:108181232 [GRCh38] ChrX:107424462 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.3278-217A>G |
single nucleotide variant |
not provided [RCV001692483] |
ChrX:108171134 [GRCh38] ChrX:107414364 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.609+156C>T |
single nucleotide variant |
not provided [RCV001706996] |
ChrX:108206362 [GRCh38] ChrX:107449592 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.3822C>T (p.Pro1274=) |
single nucleotide variant |
not provided [RCV000951197] |
ChrX:108165025 [GRCh38] ChrX:107408255 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4482A>G (p.Leu1494=) |
single nucleotide variant |
COL4A6-related condition [RCV003895748]|not provided [RCV000946260] |
ChrX:108160506 [GRCh38] ChrX:107403736 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4550G>A (p.Arg1517His) |
single nucleotide variant |
COL4A6-related condition [RCV003912853]|not provided [RCV000900102] |
ChrX:108159724 [GRCh38] ChrX:107402954 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2888A>T (p.Asn963Ile) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271101]|not provided [RCV000878468] |
ChrX:108175158 [GRCh38] ChrX:107418388 [GRCh37] ChrX:Xq22.3 |
benign |
NC_000023.10:g.(?_107681416)_(107939608_?)del |
deletion |
Alport syndrome 1, X-linked recessive [RCV000032046] |
ChrX:107681416..107939608 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_033641.4(COL4A6):c.672A>G (p.Gly224=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271053]|not provided [RCV000826979] |
ChrX:108205454 [GRCh38] ChrX:107448684 [GRCh37] ChrX:Xq22.3 |
benign |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV000848828] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_033641.4(COL4A6):c.2400C>A (p.Gly800=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271118]|not provided [RCV000945601] |
ChrX:108178799 [GRCh38] ChrX:107422029 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.4299T>A (p.Gly1433=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271119]|not provided [RCV000945852] |
ChrX:108161653 [GRCh38] ChrX:107404883 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.1654A>T (p.Ile552Phe) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002489352]|not provided [RCV000960658] |
ChrX:108187961 [GRCh38] ChrX:107431191 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_033641.4(COL4A6):c.2811T>C (p.Ala937=) |
single nucleotide variant |
not provided [RCV000940471] |
ChrX:108175673 [GRCh38] ChrX:107418903 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.853GAAAAGGGA[2] (p.285EKG[2]) |
microsatellite |
Hearing loss, X-linked 6 [RCV002502934]|not provided [RCV000951781] |
ChrX:108196535..108196543 [GRCh38] ChrX:107439765..107439773 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_033641.4(COL4A6):c.1180+4dup |
duplication |
Hearing loss, X-linked 6 [RCV002271065]|not provided [RCV000838007] |
ChrX:108192462..108192463 [GRCh38] ChrX:107435692..107435693 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.853GAAAAGGGA[4] (p.285EKG[4]) |
microsatellite |
not provided [RCV000840182] |
ChrX:108196534..108196535 [GRCh38] ChrX:107439764..107439765 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.280-77A>T |
single nucleotide variant |
not provided [RCV000843380] |
ChrX:108219819 [GRCh38] ChrX:107463049 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.1768-54G>A |
single nucleotide variant |
not provided [RCV000843381] |
ChrX:108187333 [GRCh38] ChrX:107430563 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.2024-32T>C |
single nucleotide variant |
not provided [RCV000843382] |
ChrX:108180654 [GRCh38] ChrX:107423884 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.444G>C (p.Gly148=) |
single nucleotide variant |
COL4A6-related condition [RCV003950415]|not provided [RCV000893079] |
ChrX:108211738 [GRCh38] ChrX:107454968 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3886C>T (p.Pro1296Ser) |
single nucleotide variant |
COL4A6-related condition [RCV003965611]|Inborn genetic diseases [RCV002538246]|not provided [RCV000826325] |
ChrX:108164961 [GRCh38] ChrX:107408191 [GRCh37] ChrX:Xq22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_033641.4(COL4A6):c.3474C>T (p.Pro1158=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271064]|not provided [RCV000835281] |
ChrX:108170628 [GRCh38] ChrX:107413858 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.1305_1313dup (p.432GPP[4]) |
duplication |
not provided [RCV000991640] |
ChrX:108191400..108191401 [GRCh38] ChrX:107434630..107434631 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.432C>T (p.Leu144=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271077]|not provided [RCV000842363] |
ChrX:108214121 [GRCh38] ChrX:107457351 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.1431C>T (p.Asp477=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271078]|not provided [RCV000842364] |
ChrX:108188673 [GRCh38] ChrX:107431903 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.4333+22A>G |
single nucleotide variant |
not provided [RCV000842910] |
ChrX:108161597 [GRCh38] ChrX:107404827 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4333+25C>G |
single nucleotide variant |
not provided [RCV000842911] |
ChrX:108161594 [GRCh38] ChrX:107404824 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4333+29C>G |
single nucleotide variant |
not provided [RCV000842912] |
ChrX:108161590 [GRCh38] ChrX:107404820 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4333+34C>G |
single nucleotide variant |
not provided [RCV000842942] |
ChrX:108161585 [GRCh38] ChrX:107404815 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.4217-77A>G |
single nucleotide variant |
not provided [RCV000842948] |
ChrX:108161812 [GRCh38] ChrX:107405042 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.688-43G>A |
single nucleotide variant |
not provided [RCV000843316] |
ChrX:108204455 [GRCh38] ChrX:107447685 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.2353+56G>A |
single nucleotide variant |
not provided [RCV000843383] |
ChrX:108179161 [GRCh38] ChrX:107422391 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3138+64C>T |
single nucleotide variant |
not provided [RCV000843703] |
ChrX:108174376 [GRCh38] ChrX:107417606 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2856C>T (p.Val952=) |
single nucleotide variant |
not provided [RCV000842416] |
ChrX:108175190 [GRCh38] ChrX:107418420 [GRCh37] ChrX:Xq22.3 |
likely benign |
GRCh37/hg19 Xq22.3(chrX:107412411-107781697)x3 |
copy number gain |
not provided [RCV000847850] |
ChrX:107412411..107781697 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 |
copy number loss |
not provided [RCV001007318] |
ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 |
copy number loss |
not provided [RCV001007322] |
ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 |
copy number loss |
not provided [RCV000846274] |
ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 |
copy number loss |
not provided [RCV000845672] |
ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 |
copy number loss |
not provided [RCV000848218] |
ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_033641.4(COL4A6):c.181G>A (p.Gly61Ser) |
single nucleotide variant |
not provided [RCV000995997] |
ChrX:108221338 [GRCh38] ChrX:107464568 [GRCh37] ChrX:Xq22.3 |
likely benign|uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) |
copy number gain |
Klinefelter syndrome [RCV003236730] |
ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_033641.4(COL4A6):c.4403C>A (p.Thr1468Lys) |
single nucleotide variant |
Nephrotic syndrome [RCV001580295] |
ChrX:108160585 [GRCh38] ChrX:107403815 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3486A>G (p.Gly1162=) |
single nucleotide variant |
not provided [RCV003106931] |
ChrX:108170616 [GRCh38] ChrX:107413846 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2132-7C>T |
single nucleotide variant |
not provided [RCV003107083] |
ChrX:108179445 [GRCh38] ChrX:107422675 [GRCh37] ChrX:Xq22.3 |
likely benign |
NC_000023.10:g.(?_107400230)_(107939608_?)del |
deletion |
not provided [RCV003107490] |
ChrX:107400230..107939608 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NC_000023.10:g.(?_107682568)_(107683456_?)del |
deletion |
not provided [RCV003107491] |
ChrX:107682568..107683456 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4949G>A (p.Ser1650Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003241193] |
ChrX:108157124 [GRCh38] ChrX:107400354 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2409G>A (p.Gly803=) |
single nucleotide variant |
COL4A6-related condition [RCV003968410]|Hearing loss, X-linked 6 [RCV002271278]|not provided [RCV001635710] |
ChrX:108178790 [GRCh38] ChrX:107422020 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_033641.4(COL4A6):c.114C>T (p.Ser38=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271285]|not provided [RCV001659445] |
ChrX:108310778 [GRCh38] ChrX:107554008 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.2354-123G>A |
single nucleotide variant |
not provided [RCV001659621] |
ChrX:108178968 [GRCh38] ChrX:107422198 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.2164C>T (p.Pro722Ser) |
single nucleotide variant |
COL4A6-related condition [RCV003921240]|not provided [RCV001573721] |
ChrX:108179406 [GRCh38] ChrX:107422636 [GRCh37] ChrX:Xq22.3 |
likely benign|uncertain significance |
NM_033641.4(COL4A6):c.4334-29A>T |
single nucleotide variant |
not provided [RCV001621844] |
ChrX:108160683 [GRCh38] ChrX:107403913 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.145-211A>G |
single nucleotide variant |
not provided [RCV001614684] |
ChrX:108221585 [GRCh38] ChrX:107464815 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.765G>A (p.Gly255=) |
single nucleotide variant |
not provided [RCV000952216] |
ChrX:108204335 [GRCh38] ChrX:107447565 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.3192A>G (p.Pro1064=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271103]|not provided [RCV000887470] |
ChrX:108172479 [GRCh38] ChrX:107415709 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.1886G>A (p.Arg629His) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271120]|not provided [RCV000951816] |
ChrX:108187161 [GRCh38] ChrX:107430391 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1 |
copy number loss |
not provided [RCV001007332] |
ChrX:105973323..110619655 [GRCh37] ChrX:Xq22.3-23 |
likely pathogenic |
NM_033641.4(COL4A6):c.547-128C>G |
single nucleotide variant |
not provided [RCV001641303] |
ChrX:108206708 [GRCh38] ChrX:107449938 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.5044C>T (p.Arg1682Cys) |
single nucleotide variant |
not provided [RCV003234244] |
ChrX:108157029 [GRCh38] ChrX:107400259 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.688-37_688-34del |
deletion |
not provided [RCV001688148] |
ChrX:108204446..108204449 [GRCh38] ChrX:107447676..107447679 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.4404G>A (p.Thr1468=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271287]|not provided [RCV001675203] |
ChrX:108160584 [GRCh38] ChrX:107403814 [GRCh37] ChrX:Xq22.3 |
benign |
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 |
copy number loss |
not provided [RCV001537933] |
ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_033641.4(COL4A6):c.3278-215T>C |
single nucleotide variant |
not provided [RCV001656046] |
ChrX:108171132 [GRCh38] ChrX:107414362 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.280-130_280-119del |
deletion |
not provided [RCV001539100] |
ChrX:108219861..108219872 [GRCh38] ChrX:107463091..107463102 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.949-76C>T |
single nucleotide variant |
not provided [RCV001616138] |
ChrX:108194663 [GRCh38] ChrX:107437893 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.2516-46A>G |
single nucleotide variant |
not provided [RCV001675002] |
ChrX:108177057 [GRCh38] ChrX:107420287 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.547-291A>C |
single nucleotide variant |
not provided [RCV001639412] |
ChrX:108206871 [GRCh38] ChrX:107450101 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.1322-16dup |
duplication |
not provided [RCV001660911] |
ChrX:108190504..108190505 [GRCh38] ChrX:107433734..107433735 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.2956+39G>A |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV001661300]|not provided [RCV001673228] |
ChrX:108175051 [GRCh38] ChrX:107418281 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.441+72C>T |
single nucleotide variant |
not provided [RCV001652829] |
ChrX:108214040 [GRCh38] ChrX:107457270 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.1768-278T>C |
single nucleotide variant |
not provided [RCV001658616] |
ChrX:108187557 [GRCh38] ChrX:107430787 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.1118G>A (p.Gly373Glu) |
single nucleotide variant |
not specified [RCV001192866] |
ChrX:108192535 [GRCh38] ChrX:107435765 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.904-163dup |
duplication |
not provided [RCV001647826] |
ChrX:108195275..108195276 [GRCh38] ChrX:107438505..107438506 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.442-44G>A |
single nucleotide variant |
not provided [RCV001713656] |
ChrX:108211784 [GRCh38] ChrX:107455014 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.948+193C>A |
single nucleotide variant |
not provided [RCV001641469] |
ChrX:108194889 [GRCh38] ChrX:107438119 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.280-300T>A |
single nucleotide variant |
not provided [RCV001678872] |
ChrX:108220042 [GRCh38] ChrX:107463272 [GRCh37] ChrX:Xq22.3 |
benign |
GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1 |
copy number loss |
Xq21.32q23 deletion [RCV001579312] |
ChrX:91829757..113050225 [GRCh37] ChrX:Xq21.32-23 |
pathogenic |
NM_033641.4(COL4A6):c.1426+219T>A |
single nucleotide variant |
not provided [RCV001668825] |
ChrX:108190173 [GRCh38] ChrX:107433403 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.3139-63A>G |
single nucleotide variant |
not provided [RCV001690600] |
ChrX:108172595 [GRCh38] ChrX:107415825 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.1768-70C>T |
single nucleotide variant |
not provided [RCV001682422] |
ChrX:108187349 [GRCh38] ChrX:107430579 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.3566-27G>A |
single nucleotide variant |
not provided [RCV001615645] |
ChrX:108169647 [GRCh38] ChrX:107412877 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.2131+45GT[11] |
microsatellite |
not provided [RCV001671659] |
ChrX:108180445..108180448 [GRCh38] ChrX:107423675..107423678 [GRCh37] ChrX:Xq22.3 |
benign |
NC_000023.11:g.(?_107628619)_(108696388_?)del |
deletion |
not provided [RCV001032756] |
ChrX:106871849..107939618 [GRCh37] ChrX:Xq22.3 |
pathogenic |
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 |
copy number loss |
not provided [RCV001259005] |
ChrX:77514079..127770854 [GRCh37] ChrX:Xq21.1-25 |
pathogenic |
NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr) |
single nucleotide variant |
COL4A6-related condition [RCV003393934]|Hearing loss, X-linked 6 [RCV001262702]|not provided [RCV001476868] |
ChrX:108159632 [GRCh38] ChrX:107402862 [GRCh37] ChrX:Xq22.3 |
likely benign|uncertain significance |
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 |
copy number loss |
not provided [RCV001259012] |
ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) |
copy number loss |
Turner syndrome [RCV002280672] |
ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 |
copy number gain |
Klinefelter syndrome [RCV002282732] |
ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 |
copy number gain |
See cases [RCV001263024] |
ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xq22.3(chrX:106479615-107575960)x3 |
copy number gain |
not provided [RCV001259490] |
ChrX:106479615..107575960 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number loss |
Turner syndrome [RCV002280668] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 |
copy number gain |
not provided [RCV001281359] |
ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_033641.4(COL4A6):c.788_791dup (p.Pro265fs) |
duplication |
Deafness, X-linked 6 [RCV001334956] |
ChrX:108202970..108202971 [GRCh38] ChrX:107446200..107446201 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_033641.4(COL4A6):c.3809-14G>A |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271279]|not provided [RCV001643352] |
ChrX:108165052 [GRCh38] ChrX:107408282 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.1588-54T>C |
single nucleotide variant |
not provided [RCV001538489] |
ChrX:108188081 [GRCh38] ChrX:107431311 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.4813-153C>A |
single nucleotide variant |
not provided [RCV001686575] |
ChrX:108157413 [GRCh38] ChrX:107400643 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.835-6A>G |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271277]|not provided [RCV001618116] |
ChrX:108196585 [GRCh38] ChrX:107439815 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.2131+45GT[12] |
microsatellite |
not provided [RCV001669785] |
ChrX:108180445..108180446 [GRCh38] ChrX:107423675..107423676 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.*70G>A |
single nucleotide variant |
not provided [RCV001686031] |
ChrX:108156930 [GRCh38] ChrX:107400160 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.1922C>T (p.Pro641Leu) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271288]|not provided [RCV001688188] |
ChrX:108187125 [GRCh38] ChrX:107430355 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.3455T>C (p.Ile1152Thr) |
single nucleotide variant |
COL4A6-related condition [RCV003401699]|not provided [RCV001755375] |
ChrX:108170647 [GRCh38] ChrX:107413877 [GRCh37] ChrX:Xq22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_033641.4(COL4A6):c.4730T>C (p.Ile1577Thr) |
single nucleotide variant |
not provided [RCV001755444] |
ChrX:108159544 [GRCh38] ChrX:107402774 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1951+94A>G |
single nucleotide variant |
not provided [RCV001768192] |
ChrX:108187002 [GRCh38] ChrX:107430232 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.688-179G>A |
single nucleotide variant |
not provided [RCV001759360] |
ChrX:108204591 [GRCh38] ChrX:107447821 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3202+38T>G |
single nucleotide variant |
not provided [RCV001768087] |
ChrX:108172431 [GRCh38] ChrX:107415661 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.610-13A>T |
single nucleotide variant |
not provided [RCV001752927] |
ChrX:108205708 [GRCh38] ChrX:107448938 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2686+80G>C |
single nucleotide variant |
not provided [RCV001753000] |
ChrX:108176761 [GRCh38] ChrX:107419991 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1533A>G (p.Lys511=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271299]|not provided [RCV001774957] |
ChrX:108188571 [GRCh38] ChrX:107431801 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 |
copy number loss |
See cases [RCV002285075] |
ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
NM_033641.4(COL4A6):c.2309G>A (p.Gly770Glu) |
single nucleotide variant |
not provided [RCV001767959] |
ChrX:108179261 [GRCh38] ChrX:107422491 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.645T>G (p.Asp215Glu) |
single nucleotide variant |
not provided [RCV001768008] |
ChrX:108205660 [GRCh38] ChrX:107448890 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2806C>T (p.Arg936Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002540664]|not provided [RCV001768034] |
ChrX:108175678 [GRCh38] ChrX:107418908 [GRCh37] ChrX:Xq22.3 |
likely benign|uncertain significance |
NM_033641.4(COL4A6):c.623C>G (p.Pro208Arg) |
single nucleotide variant |
not provided [RCV001753020] |
ChrX:108205682 [GRCh38] ChrX:107448912 [GRCh37] ChrX:Xq22.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_033641.4(COL4A6):c.1917A>T (p.Gly639=) |
single nucleotide variant |
COL4A6-related condition [RCV003948718]|not provided [RCV001774903] |
ChrX:108187130 [GRCh38] ChrX:107430360 [GRCh37] ChrX:Xq22.3 |
likely benign |
GRCh37/hg19 Xq22.3-23(chrX:104782507-112949573)x2 |
copy number gain |
not provided [RCV001795543] |
ChrX:104782507..112949573 [GRCh37] ChrX:Xq22.3-23 |
likely pathogenic |
NM_033641.4(COL4A6):c.1180+29A>T |
single nucleotide variant |
not provided [RCV001759114] |
ChrX:108192444 [GRCh38] ChrX:107435674 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1987G>A (p.Gly663Ser) |
single nucleotide variant |
not provided [RCV001776535] |
ChrX:108180933 [GRCh38] ChrX:107424163 [GRCh37] ChrX:Xq22.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_033641.4(COL4A6):c.3663G>A (p.Pro1221=) |
single nucleotide variant |
not provided [RCV001776546] |
ChrX:108169523 [GRCh38] ChrX:107412753 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_001847.4(COL4A6):c.14+241T>A |
single nucleotide variant |
not provided [RCV001768068] |
ChrX:108439117 [GRCh38] ChrX:107682347 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4993T>C (p.Leu1665=) |
single nucleotide variant |
not provided [RCV001768173] |
ChrX:108157080 [GRCh38] ChrX:107400310 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.738G>C (p.Glu246Asp) |
single nucleotide variant |
not provided [RCV001769819] |
ChrX:108204362 [GRCh38] ChrX:107447592 [GRCh37] ChrX:Xq22.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_033641.4(COL4A6):c.3645C>T (p.Ile1215=) |
single nucleotide variant |
not provided [RCV001769829] |
ChrX:108169541 [GRCh38] ChrX:107412771 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2936A>G (p.Asn979Ser) |
single nucleotide variant |
not provided [RCV001769844] |
ChrX:108175110 [GRCh38] ChrX:107418340 [GRCh37] ChrX:Xq22.3 |
likely benign|conflicting interpretations of pathogenicity |
NC_000023.11:g.108439594A>G |
single nucleotide variant |
not provided [RCV001752929] |
ChrX:108439594 [GRCh38] ChrX:107682824 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.144+290G>A |
single nucleotide variant |
not provided [RCV001753078] |
ChrX:108310458 [GRCh38] ChrX:107553688 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1467C>A (p.Asn489Lys) |
single nucleotide variant |
COL4A6-related condition [RCV003948726]|not provided [RCV001753111] |
ChrX:108188637 [GRCh38] ChrX:107431867 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1368C>T (p.Phe456=) |
single nucleotide variant |
not provided [RCV001753120] |
ChrX:108190450 [GRCh38] ChrX:107433680 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.442-249C>T |
single nucleotide variant |
not provided [RCV001769690] |
ChrX:108211989 [GRCh38] ChrX:107455219 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.63+37C>G |
single nucleotide variant |
not provided [RCV001769736] |
ChrX:108437905 [GRCh38] ChrX:107681135 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2646T>G (p.Ser882=) |
single nucleotide variant |
not provided [RCV001766233] |
ChrX:108176881 [GRCh38] ChrX:107420111 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_001847.4(COL4A6):c.14+33T>C |
single nucleotide variant |
not provided [RCV001758979] |
ChrX:108439325 [GRCh38] ChrX:107682555 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2957-168dup |
duplication |
not provided [RCV001769744] |
ChrX:108174788..108174789 [GRCh38] ChrX:107418018..107418019 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3780C>T (p.Pro1260=) |
single nucleotide variant |
not provided [RCV001759145] |
ChrX:108165398 [GRCh38] ChrX:107408628 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.456G>A (p.Gln152=) |
single nucleotide variant |
COL4A6-related condition [RCV003968544]|not provided [RCV001759267] |
ChrX:108211726 [GRCh38] ChrX:107454956 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1952-2785_1952-2784insAGA |
insertion |
Hearing loss, X-linked 6 [RCV001733580] |
ChrX:108183752..108183753 [GRCh38] ChrX:107426982..107426983 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.3278-35G>T |
single nucleotide variant |
not provided [RCV001759149] |
ChrX:108170952 [GRCh38] ChrX:107414182 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.904-294G>A |
single nucleotide variant |
not provided [RCV001759329] |
ChrX:108195420 [GRCh38] ChrX:107438650 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3692-149G>A |
single nucleotide variant |
not provided [RCV001776529] |
ChrX:108165635 [GRCh38] ChrX:107408865 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4217-25del |
deletion |
not provided [RCV001758929] |
ChrX:108161760 [GRCh38] ChrX:107404990 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3203-79dup |
duplication |
not provided [RCV001759284] |
ChrX:108171539..108171540 [GRCh38] ChrX:107414769..107414770 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4070-17C>T |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271300]|not provided [RCV001753175] |
ChrX:108163055 [GRCh38] ChrX:107406285 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_033641.4(COL4A6):c.3138+17C>T |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002271303]|not provided [RCV001797281] |
ChrX:108174423 [GRCh38] ChrX:107417653 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_033641.4(COL4A6):c.1073-344A>G |
single nucleotide variant |
not provided [RCV001767930] |
ChrX:108192924 [GRCh38] ChrX:107436154 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4601A>G (p.Tyr1534Cys) |
single nucleotide variant |
not provided [RCV001757657] |
ChrX:108159673 [GRCh38] ChrX:107402903 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3202+123G>T |
single nucleotide variant |
not provided [RCV001752916] |
ChrX:108172346 [GRCh38] ChrX:107415576 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.646-46T>C |
single nucleotide variant |
not provided [RCV001753039] |
ChrX:108205526 [GRCh38] ChrX:107448756 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4217-214del |
deletion |
not provided [RCV001753177] |
ChrX:108161949 [GRCh38] ChrX:107405179 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4073C>T (p.Ser1358Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002540649]|not provided [RCV001757637] |
ChrX:108163035 [GRCh38] ChrX:107406265 [GRCh37] ChrX:Xq22.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_033641.4(COL4A6):c.279+242C>T |
single nucleotide variant |
not provided [RCV001776564] |
ChrX:108220998 [GRCh38] ChrX:107464228 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2807G>A (p.Arg936His) |
single nucleotide variant |
not provided [RCV001759057] |
ChrX:108175677 [GRCh38] ChrX:107418907 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2656G>A (p.Ala886Thr) |
single nucleotide variant |
not provided [RCV001874637]|not specified [RCV003401803] |
ChrX:108176871 [GRCh38] ChrX:107420101 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4813-9_4813-6del |
microsatellite |
not provided [RCV001909755] |
ChrX:108157266..108157269 [GRCh38] ChrX:107400496..107400499 [GRCh37] ChrX:Xq22.3 |
likely benign|uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV001834509] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_033641.4(COL4A6):c.2356G>A (p.Val786Met) |
single nucleotide variant |
not provided [RCV001950654] |
ChrX:108178843 [GRCh38] ChrX:107422073 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4243G>A (p.Gly1415Ser) |
single nucleotide variant |
not provided [RCV001930122]|not specified [RCV003487811] |
ChrX:108161709 [GRCh38] ChrX:107404939 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2338C>T (p.Leu780Phe) |
single nucleotide variant |
not provided [RCV001913785] |
ChrX:108179232 [GRCh38] ChrX:107422462 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4663G>A (p.Val1555Ile) |
single nucleotide variant |
COL4A6-related condition [RCV003416531]|not provided [RCV001895208] |
ChrX:108159611 [GRCh38] ChrX:107402841 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339) |
copy number gain |
not specified [RCV002053166] |
ChrX:101982475..116885339 [GRCh37] ChrX:Xq22.1-24 |
pathogenic |
NM_033641.4(COL4A6):c.4899C>G (p.Ile1633Met) |
single nucleotide variant |
not provided [RCV002042858] |
ChrX:108157174 [GRCh38] ChrX:107400404 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1648A>G (p.Ser550Gly) |
single nucleotide variant |
COL4A6-related condition [RCV003948765]|not provided [RCV002042348] |
ChrX:108187967 [GRCh38] ChrX:107431197 [GRCh37] ChrX:Xq22.3 |
likely benign|uncertain significance |
NM_033641.4(COL4A6):c.3805C>T (p.Arg1269Ter) |
single nucleotide variant |
not provided [RCV001945617] |
ChrX:108165373 [GRCh38] ChrX:107408603 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
not provided [RCV001829212] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_033641.4(COL4A6):c.140C>T (p.Ala47Val) |
single nucleotide variant |
not provided [RCV001926355] |
ChrX:108310752 [GRCh38] ChrX:107553982 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.680G>A (p.Gly227Glu) |
single nucleotide variant |
not provided [RCV002023675] |
ChrX:108205446 [GRCh38] ChrX:107448676 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.557G>A (p.Gly186Glu) |
single nucleotide variant |
not provided [RCV001913177] |
ChrX:108206570 [GRCh38] ChrX:107449800 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2027C>A (p.Pro676His) |
single nucleotide variant |
not provided [RCV001985127] |
ChrX:108180619 [GRCh38] ChrX:107423849 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1359G>T (p.Glu453Asp) |
single nucleotide variant |
COL4A6-related condition [RCV003395303]|not provided [RCV001984973] |
ChrX:108190459 [GRCh38] ChrX:107433689 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.238T>C (p.Phe80Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002562157]|not provided [RCV001965217] |
ChrX:108221281 [GRCh38] ChrX:107464511 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067) |
copy number gain |
not specified [RCV002053170] |
ChrX:103158718..111556067 [GRCh37] ChrX:Xq22.2-23 |
pathogenic |
NC_000023.10:g.(?_107681152)_(107683456_?)dup |
duplication |
not provided [RCV002000752] |
ChrX:107681152..107683456 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4812+5G>T |
single nucleotide variant |
not provided [RCV001959340] |
ChrX:108159457 [GRCh38] ChrX:107402687 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2009C>A (p.Thr670Asn) |
single nucleotide variant |
not provided [RCV001961217] |
ChrX:108180911 [GRCh38] ChrX:107424141 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4111G>A (p.Ala1371Thr) |
single nucleotide variant |
not provided [RCV002000973] |
ChrX:108162997 [GRCh38] ChrX:107406227 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4667G>A (p.Ser1556Asn) |
single nucleotide variant |
not provided [RCV001974037] |
ChrX:108159607 [GRCh38] ChrX:107402837 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NC_000023.10:g.(?_107681152)_(107979574_?)del |
deletion |
not provided [RCV001882980] |
ChrX:107681152..107979574 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2807_2808inv (p.Arg936His) |
inversion |
not provided [RCV002011931] |
ChrX:108175676..108175677 [GRCh38] ChrX:107418906..107418907 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.730A>G (p.Thr244Ala) |
single nucleotide variant |
not provided [RCV002029837] |
ChrX:108204370 [GRCh38] ChrX:107447600 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.439C>A (p.Pro147Thr) |
single nucleotide variant |
not provided [RCV001902245] |
ChrX:108214114 [GRCh38] ChrX:107457344 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3812G>A (p.Arg1271His) |
single nucleotide variant |
Inborn genetic diseases [RCV003348779]|not provided [RCV002031305] |
ChrX:108165035 [GRCh38] ChrX:107408265 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1181-3C>T |
single nucleotide variant |
not provided [RCV001957541] |
ChrX:108191536 [GRCh38] ChrX:107434766 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2687-4A>G |
single nucleotide variant |
not provided [RCV001881265] |
ChrX:108175801 [GRCh38] ChrX:107419031 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3779C>T (p.Pro1260Leu) |
single nucleotide variant |
not provided [RCV001935097] |
ChrX:108165399 [GRCh38] ChrX:107408629 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3262G>A (p.Glu1088Lys) |
single nucleotide variant |
not provided [RCV001998048] |
ChrX:108171402 [GRCh38] ChrX:107414632 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3232G>A (p.Gly1078Ser) |
single nucleotide variant |
not provided [RCV002046371] |
ChrX:108171432 [GRCh38] ChrX:107414662 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4810A>C (p.Met1604Leu) |
single nucleotide variant |
not provided [RCV001907347] |
ChrX:108159464 [GRCh38] ChrX:107402694 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3269G>A (p.Gly1090Asp) |
single nucleotide variant |
not provided [RCV002049496] |
ChrX:108171395 [GRCh38] ChrX:107414625 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3823G>C (p.Ala1275Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002552949]|not provided [RCV001905837] |
ChrX:108165024 [GRCh38] ChrX:107408254 [GRCh37] ChrX:Xq22.3 |
likely benign|uncertain significance |
NM_033641.4(COL4A6):c.2846C>T (p.Pro949Leu) |
single nucleotide variant |
not provided [RCV001938190] |
ChrX:108175200 [GRCh38] ChrX:107418430 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1613C>T (p.Ser538Leu) |
single nucleotide variant |
COL4A6-related condition [RCV003923436]|Inborn genetic diseases [RCV003161332]|not provided [RCV002087460] |
ChrX:108188002 [GRCh38] ChrX:107431232 [GRCh37] ChrX:Xq22.3 |
likely benign|uncertain significance |
NM_033641.4(COL4A6):c.4041C>T (p.Pro1347=) |
single nucleotide variant |
not provided [RCV002087346] |
ChrX:108164628 [GRCh38] ChrX:107407858 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.3816A>C (p.Pro1272=) |
single nucleotide variant |
not provided [RCV002112300] |
ChrX:108165031 [GRCh38] ChrX:107408261 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3070A>T (p.Ile1024Phe) |
single nucleotide variant |
not provided [RCV002075030] |
ChrX:108174508 [GRCh38] ChrX:107417738 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3691+10A>G |
single nucleotide variant |
not provided [RCV002090641] |
ChrX:108169485 [GRCh38] ChrX:107412715 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2577A>G (p.Lys859=) |
single nucleotide variant |
not provided [RCV002145138] |
ChrX:108176950 [GRCh38] ChrX:107420180 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.442-17T>A |
single nucleotide variant |
not provided [RCV002147653] |
ChrX:108211757 [GRCh38] ChrX:107454987 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.792G>A (p.Gly264=) |
single nucleotide variant |
not provided [RCV002167915] |
ChrX:108202970 [GRCh38] ChrX:107446200 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2013C>T (p.Pro671=) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002494169]|not provided [RCV002093232] |
ChrX:108180907 [GRCh38] ChrX:107424137 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3870C>T (p.Thr1290=) |
single nucleotide variant |
not provided [RCV002213771] |
ChrX:108164977 [GRCh38] ChrX:107408207 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2643C>A (p.Gly881=) |
single nucleotide variant |
not provided [RCV002113055] |
ChrX:108176884 [GRCh38] ChrX:107420114 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_033641.4(COL4A6):c.3871G>A (p.Gly1291Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003053458]|not provided [RCV002114409] |
ChrX:108164976 [GRCh38] ChrX:107408206 [GRCh37] ChrX:Xq22.3 |
likely benign|uncertain significance |
NM_033641.4(COL4A6):c.1494A>C (p.Pro498=) |
single nucleotide variant |
not provided [RCV002115374] |
ChrX:108188610 [GRCh38] ChrX:107431840 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1952-19C>T |
single nucleotide variant |
not provided [RCV002115839] |
ChrX:108180987 [GRCh38] ChrX:107424217 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.2367G>T (p.Lys789Asn) |
single nucleotide variant |
COL4A6-related condition [RCV003895882]|Inborn genetic diseases [RCV003061733]|not provided [RCV002104299] |
ChrX:108178832 [GRCh38] ChrX:107422062 [GRCh37] ChrX:Xq22.3 |
likely benign|uncertain significance |
NM_033641.4(COL4A6):c.1556C>T (p.Ser519Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003015327]|not provided [RCV002112738] |
ChrX:108188548 [GRCh38] ChrX:107431778 [GRCh37] ChrX:Xq22.3 |
likely benign|uncertain significance |
NM_033641.4(COL4A6):c.3579C>T (p.Thr1193=) |
single nucleotide variant |
not provided [RCV002134393] |
ChrX:108169607 [GRCh38] ChrX:107412837 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4623T>C (p.Ser1541=) |
single nucleotide variant |
not provided [RCV002087286] |
ChrX:108159651 [GRCh38] ChrX:107402881 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.610-23_610-20del |
microsatellite |
not provided [RCV002114744] |
ChrX:108205715..108205718 [GRCh38] ChrX:107448945..107448948 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3202+20del |
deletion |
not provided [RCV002115674] |
ChrX:108172449 [GRCh38] ChrX:107415679 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.798G>A (p.Lys266=) |
single nucleotide variant |
not provided [RCV002093960] |
ChrX:108202964 [GRCh38] ChrX:107446194 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.12-17C>T |
single nucleotide variant |
not provided [RCV002101666] |
ChrX:108438010 [GRCh38] ChrX:107681240 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4812+16G>C |
single nucleotide variant |
not provided [RCV002198243] |
ChrX:108159446 [GRCh38] ChrX:107402676 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2131+19C>T |
single nucleotide variant |
not provided [RCV002177943] |
ChrX:108180496 [GRCh38] ChrX:107423726 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.663T>C (p.Gly221=) |
single nucleotide variant |
not provided [RCV002162118] |
ChrX:108205463 [GRCh38] ChrX:107448693 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4425G>A (p.Ser1475=) |
single nucleotide variant |
not provided [RCV002122645] |
ChrX:108160563 [GRCh38] ChrX:107403793 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.511-15G>A |
single nucleotide variant |
not provided [RCV002097840] |
ChrX:108210019 [GRCh38] ChrX:107453249 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4974G>A (p.Glu1658=) |
single nucleotide variant |
not provided [RCV002220345] |
ChrX:108157099 [GRCh38] ChrX:107400329 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3970+19C>T |
single nucleotide variant |
not provided [RCV002083710] |
ChrX:108164858 [GRCh38] ChrX:107408088 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.3711C>A (p.Gly1237=) |
single nucleotide variant |
not provided [RCV002139660] |
ChrX:108165467 [GRCh38] ChrX:107408697 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.145-18T>C |
single nucleotide variant |
not provided [RCV002098718] |
ChrX:108221392 [GRCh38] ChrX:107464622 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4224A>G (p.Lys1408=) |
single nucleotide variant |
not provided [RCV002136463] |
ChrX:108161728 [GRCh38] ChrX:107404958 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.833C>T (p.Pro278Leu) |
single nucleotide variant |
not provided [RCV002181537] |
ChrX:108202929 [GRCh38] ChrX:107446159 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3678A>G (p.Gln1226=) |
single nucleotide variant |
not provided [RCV002101964] |
ChrX:108169508 [GRCh38] ChrX:107412738 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4488T>C (p.Phe1496=) |
single nucleotide variant |
not provided [RCV002104169] |
ChrX:108160500 [GRCh38] ChrX:107403730 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3138+9_3138+12dup |
duplication |
not provided [RCV002123464] |
ChrX:108174427..108174428 [GRCh38] ChrX:107417657..107417658 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4761G>A (p.Pro1587=) |
single nucleotide variant |
not provided [RCV002123759] |
ChrX:108159513 [GRCh38] ChrX:107402743 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1230C>T (p.Asp410=) |
single nucleotide variant |
not provided [RCV002156972] |
ChrX:108191484 [GRCh38] ChrX:107434714 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4758C>T (p.Ile1586=) |
single nucleotide variant |
not provided [RCV002136913] |
ChrX:108159516 [GRCh38] ChrX:107402746 [GRCh37] ChrX:Xq22.3 |
benign |
NC_000023.10:g.(?_107681152)_(107683456_?)del |
deletion |
not provided [RCV003111306] |
ChrX:107681152..107683456 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_033641.4(COL4A6):c.3691+16G>A |
single nucleotide variant |
not provided [RCV003118465] |
ChrX:108169479 [GRCh38] ChrX:107412709 [GRCh37] ChrX:Xq22.3 |
likely benign |
NC_000023.10:g.(?_106046084)_(108868249_?)del |
deletion |
Charcot-Marie-Tooth Neuropathy X [RCV003122615] |
ChrX:106046084..108868249 [GRCh37] ChrX:Xq22.3-23 |
pathogenic |
NM_033641.4(COL4A6):c.2245A>G (p.Thr749Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003242323] |
ChrX:108179325 [GRCh38] ChrX:107422555 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4768C>T (p.Pro1590Ser) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV002273155] |
ChrX:108159506 [GRCh38] ChrX:107402736 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number gain |
46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 |
copy number gain |
not provided [RCV002291535] |
ChrX:76794355..119282836 [GRCh37] ChrX:Xq21.1-24 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 |
copy number loss |
See cases [RCV002286357] |
ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_033641.4(COL4A6):c.1732G>A (p.Gly578Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003279974]|not provided [RCV003738414] |
ChrX:108187883 [GRCh38] ChrX:107431113 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1 |
copy number loss |
not provided [RCV002474518] |
ChrX:93805850..118913329 [GRCh37] ChrX:Xq21.33-24 |
pathogenic |
NM_033641.4(COL4A6):c.4548_4549delinsTG (p.Arg1517Gly) |
indel |
not provided [RCV002304131] |
ChrX:108159725..108159726 [GRCh38] ChrX:107402955..107402956 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1433C>T (p.Ser478Leu) |
single nucleotide variant |
not provided [RCV002304713] |
ChrX:108188671 [GRCh38] ChrX:107431901 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1802G>A (p.Gly601Glu) |
single nucleotide variant |
not provided [RCV002299149] |
ChrX:108187245 [GRCh38] ChrX:107430475 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.820C>T (p.Pro274Ser) |
single nucleotide variant |
not provided [RCV002302121] |
ChrX:108202942 [GRCh38] ChrX:107446172 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3697C>T (p.Pro1233Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002860824] |
ChrX:108165481 [GRCh38] ChrX:107408711 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.494G>A (p.Ser165Asn) |
single nucleotide variant |
not provided [RCV002971313] |
ChrX:108211688 [GRCh38] ChrX:107454918 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1738C>T (p.Pro580Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002865577] |
ChrX:108187877 [GRCh38] ChrX:107431107 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3572G>A (p.Ser1191Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002773360] |
ChrX:108169614 [GRCh38] ChrX:107412844 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4408G>A (p.Val1470Ile) |
single nucleotide variant |
not provided [RCV002615924] |
ChrX:108160580 [GRCh38] ChrX:107403810 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.120G>C (p.Gln40His) |
single nucleotide variant |
Inborn genetic diseases [RCV002727562] |
ChrX:108310772 [GRCh38] ChrX:107554002 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1384G>A (p.Glu462Lys) |
single nucleotide variant |
COL4A6-related condition [RCV003954010]|Inborn genetic diseases [RCV002973572]|not provided [RCV003434640] |
ChrX:108190434 [GRCh38] ChrX:107433664 [GRCh37] ChrX:Xq22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_033641.4(COL4A6):c.2230G>A (p.Gly744Ser) |
single nucleotide variant |
COL4A6-related condition [RCV003936667]|Inborn genetic diseases [RCV002973573]|not provided [RCV003434641] |
ChrX:108179340 [GRCh38] ChrX:107422570 [GRCh37] ChrX:Xq22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_033641.4(COL4A6):c.1258G>A (p.Gly420Arg) |
single nucleotide variant |
not provided [RCV002771024] |
ChrX:108191456 [GRCh38] ChrX:107434686 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2830+14T>C |
single nucleotide variant |
not provided [RCV002908436] |
ChrX:108175640 [GRCh38] ChrX:107418870 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4743C>T (p.Ser1581=) |
single nucleotide variant |
not provided [RCV003032409] |
ChrX:108159531 [GRCh38] ChrX:107402761 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2361C>T (p.His787=) |
single nucleotide variant |
COL4A6-related condition [RCV003906282]|not provided [RCV002908192] |
ChrX:108178838 [GRCh38] ChrX:107422068 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3823G>A (p.Ala1275Thr) |
single nucleotide variant |
not provided [RCV002953768] |
ChrX:108165024 [GRCh38] ChrX:107408254 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1564G>A (p.Ala522Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002888350] |
ChrX:108188540 [GRCh38] ChrX:107431770 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4333+16A>T |
single nucleotide variant |
not provided [RCV002640567] |
ChrX:108161603 [GRCh38] ChrX:107404833 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.609+17C>T |
single nucleotide variant |
not provided [RCV003081441] |
ChrX:108206501 [GRCh38] ChrX:107449731 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4217-7C>G |
single nucleotide variant |
not provided [RCV002889465] |
ChrX:108161742 [GRCh38] ChrX:107404972 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1766C>T (p.Pro589Leu) |
single nucleotide variant |
not provided [RCV002637137] |
ChrX:108187849 [GRCh38] ChrX:107431079 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.949-16T>C |
single nucleotide variant |
not provided [RCV002847122] |
ChrX:108194603 [GRCh38] ChrX:107437833 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.129T>C (p.Pro43=) |
single nucleotide variant |
not provided [RCV002694823] |
ChrX:108310763 [GRCh38] ChrX:107553993 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2052G>A (p.Gly684=) |
single nucleotide variant |
not provided [RCV003079308] |
ChrX:108180594 [GRCh38] ChrX:107423824 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.444G>A (p.Gly148=) |
single nucleotide variant |
not provided [RCV003078198] |
ChrX:108211738 [GRCh38] ChrX:107454968 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.821C>T (p.Pro274Leu) |
single nucleotide variant |
not provided [RCV003079928] |
ChrX:108202941 [GRCh38] ChrX:107446171 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3075G>A (p.Arg1025=) |
single nucleotide variant |
not provided [RCV002756849] |
ChrX:108174503 [GRCh38] ChrX:107417733 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.546T>A (p.Thr182=) |
single nucleotide variant |
not provided [RCV002866333] |
ChrX:108209969 [GRCh38] ChrX:107453199 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4644C>A (p.Ala1548=) |
single nucleotide variant |
not provided [RCV002735845] |
ChrX:108159630 [GRCh38] ChrX:107402860 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.3580G>A (p.Gly1194Ser) |
single nucleotide variant |
not provided [RCV002912587] |
ChrX:108169606 [GRCh38] ChrX:107412836 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1391G>A (p.Gly464Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002694356] |
ChrX:108190427 [GRCh38] ChrX:107433657 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2394G>A (p.Glu798=) |
single nucleotide variant |
not provided [RCV002913853] |
ChrX:108178805 [GRCh38] ChrX:107422035 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4521C>T (p.Asp1507=) |
single nucleotide variant |
COL4A6-related condition [RCV003896215]|not provided [RCV002569644] |
ChrX:108160467 [GRCh38] ChrX:107403697 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3347T>C (p.Val1116Ala) |
single nucleotide variant |
not provided [RCV002622662] |
ChrX:108170848 [GRCh38] ChrX:107414078 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1451A>G (p.Asp484Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002784781] |
ChrX:108188653 [GRCh38] ChrX:107431883 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3913A>G (p.Lys1305Glu) |
single nucleotide variant |
not provided [RCV002637668] |
ChrX:108164934 [GRCh38] ChrX:107408164 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.953A>G (p.Lys318Arg) |
single nucleotide variant |
not provided [RCV002735902] |
ChrX:108194583 [GRCh38] ChrX:107437813 [GRCh37] ChrX:Xq22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_033641.4(COL4A6):c.4086A>G (p.Gln1362=) |
single nucleotide variant |
not provided [RCV002976095] |
ChrX:108163022 [GRCh38] ChrX:107406252 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2854G>T (p.Val952Phe) |
single nucleotide variant |
not provided [RCV003078325] |
ChrX:108175192 [GRCh38] ChrX:107418422 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1232A>G (p.Gln411Arg) |
single nucleotide variant |
not specified [RCV002510302] |
ChrX:108191482 [GRCh38] ChrX:107434712 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1073-26_1073-20dup |
duplication |
not provided [RCV002949527] |
ChrX:108192599..108192600 [GRCh38] ChrX:107435829..107435830 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.279+9A>G |
single nucleotide variant |
not provided [RCV003021072] |
ChrX:108221231 [GRCh38] ChrX:107464461 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.882C>T (p.Ile294=) |
single nucleotide variant |
not provided [RCV002843944] |
ChrX:108196532 [GRCh38] ChrX:107439762 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2353+14C>A |
single nucleotide variant |
not provided [RCV002745704] |
ChrX:108179203 [GRCh38] ChrX:107422433 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.904-10T>G |
single nucleotide variant |
not provided [RCV003057985] |
ChrX:108195136 [GRCh38] ChrX:107438366 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2341C>G (p.Pro781Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002744512] |
ChrX:108179229 [GRCh38] ChrX:107422459 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4240C>G (p.Pro1414Ala) |
single nucleotide variant |
not provided [RCV003058904] |
ChrX:108161712 [GRCh38] ChrX:107404942 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.149G>A (p.Arg50Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003250519]|not provided [RCV002572701] |
ChrX:108221370 [GRCh38] ChrX:107464600 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1750G>C (p.Gly584Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002854543] |
ChrX:108187865 [GRCh38] ChrX:107431095 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4333+10dup |
duplication |
not provided [RCV003022663] |
ChrX:108161608..108161609 [GRCh38] ChrX:107404838..107404839 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4284T>C (p.Ala1428=) |
single nucleotide variant |
not provided [RCV002701064] |
ChrX:108161668 [GRCh38] ChrX:107404898 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3829C>T (p.Pro1277Ser) |
single nucleotide variant |
not provided [RCV003084197] |
ChrX:108165018 [GRCh38] ChrX:107408248 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3518A>G (p.His1173Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003004375] |
ChrX:108169992 [GRCh38] ChrX:107413222 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2735T>A (p.Leu912Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002698875] |
ChrX:108175749 [GRCh38] ChrX:107418979 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3970+5G>A |
single nucleotide variant |
not provided [RCV002624199] |
ChrX:108164872 [GRCh38] ChrX:107408102 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3269G>C (p.Gly1090Ala) |
single nucleotide variant |
not provided [RCV002741938] |
ChrX:108171395 [GRCh38] ChrX:107414625 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1034C>G (p.Pro345Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003081950]|not provided [RCV003092538] |
ChrX:108193666 [GRCh38] ChrX:107436896 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1452C>T (p.Asp484=) |
single nucleotide variant |
not provided [RCV002644148] |
ChrX:108188652 [GRCh38] ChrX:107431882 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1061C>T (p.Ala354Val) |
single nucleotide variant |
not provided [RCV002623661] |
ChrX:108193639 [GRCh38] ChrX:107436869 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4070-10C>T |
single nucleotide variant |
not provided [RCV002576197] |
ChrX:108163048 [GRCh38] ChrX:107406278 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.546+15A>T |
single nucleotide variant |
not provided [RCV002894774] |
ChrX:108209954 [GRCh38] ChrX:107453184 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2491G>A (p.Ala831Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002641754] |
ChrX:108178708 [GRCh38] ChrX:107421938 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4333+9A>G |
single nucleotide variant |
not provided [RCV003083312] |
ChrX:108161610 [GRCh38] ChrX:107404840 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.834+9_834+12del |
microsatellite |
not provided [RCV002917656] |
ChrX:108202916..108202919 [GRCh38] ChrX:107446146..107446149 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4375C>A (p.Pro1459Thr) |
single nucleotide variant |
not provided [RCV002805595] |
ChrX:108160613 [GRCh38] ChrX:107403843 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1930C>G (p.Gln644Glu) |
single nucleotide variant |
not provided [RCV002711578] |
ChrX:108187117 [GRCh38] ChrX:107430347 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1867C>T (p.Pro623Ser) |
single nucleotide variant |
not provided [RCV002790486] |
ChrX:108187180 [GRCh38] ChrX:107430410 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1048G>A (p.Asp350Asn) |
single nucleotide variant |
not provided [RCV003083544] |
ChrX:108193652 [GRCh38] ChrX:107436882 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2536A>G (p.Thr846Ala) |
single nucleotide variant |
not provided [RCV002624804] |
ChrX:108176991 [GRCh38] ChrX:107420221 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4344G>A (p.Gly1448=) |
single nucleotide variant |
not provided [RCV002582005] |
ChrX:108160644 [GRCh38] ChrX:107403874 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2660G>T (p.Gly887Val) |
single nucleotide variant |
not provided [RCV002675997] |
ChrX:108176867 [GRCh38] ChrX:107420097 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.277A>G (p.Lys93Glu) |
single nucleotide variant |
not provided [RCV003063025] |
ChrX:108221242 [GRCh38] ChrX:107464472 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.780+4G>A |
single nucleotide variant |
COL4A6-related condition [RCV003961153]|not provided [RCV002899693] |
ChrX:108204316 [GRCh38] ChrX:107447546 [GRCh37] ChrX:Xq22.3 |
likely benign|uncertain significance |
NM_033641.4(COL4A6):c.748A>G (p.Met250Val) |
single nucleotide variant |
not provided [RCV002580753] |
ChrX:108204352 [GRCh38] ChrX:107447582 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2411C>T (p.Thr804Ile) |
single nucleotide variant |
not provided [RCV002810420] |
ChrX:108178788 [GRCh38] ChrX:107422018 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3138+6T>A |
single nucleotide variant |
not provided [RCV002577980] |
ChrX:108174434 [GRCh38] ChrX:107417664 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3494-12C>G |
single nucleotide variant |
not provided [RCV002576761] |
ChrX:108170028 [GRCh38] ChrX:107413258 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4813-3C>T |
single nucleotide variant |
not provided [RCV002746122] |
ChrX:108157263 [GRCh38] ChrX:107400493 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1941C>T (p.Pro647=) |
single nucleotide variant |
not provided [RCV002937503] |
ChrX:108187106 [GRCh38] ChrX:107430336 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3732C>G (p.Ala1244=) |
single nucleotide variant |
not provided [RCV002877418] |
ChrX:108165446 [GRCh38] ChrX:107408676 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.750G>T (p.Met250Ile) |
single nucleotide variant |
not provided [RCV002832831] |
ChrX:108204350 [GRCh38] ChrX:107447580 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3074G>A (p.Arg1025Gln) |
single nucleotide variant |
not provided [RCV003090665] |
ChrX:108174504 [GRCh38] ChrX:107417734 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2354-10C>T |
single nucleotide variant |
not provided [RCV003027596] |
ChrX:108178855 [GRCh38] ChrX:107422085 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.519T>C (p.Pro173=) |
single nucleotide variant |
not provided [RCV003026378] |
ChrX:108209996 [GRCh38] ChrX:107453226 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.454C>G (p.Gln152Glu) |
single nucleotide variant |
not provided [RCV002717017] |
ChrX:108211728 [GRCh38] ChrX:107454958 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3381T>C (p.Ala1127=) |
single nucleotide variant |
not provided [RCV002962742] |
ChrX:108170814 [GRCh38] ChrX:107414044 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4333+19A>T |
single nucleotide variant |
not provided [RCV002651007] |
ChrX:108161600 [GRCh38] ChrX:107404830 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1901A>G (p.Asp634Gly) |
single nucleotide variant |
not provided [RCV003087816] |
ChrX:108187146 [GRCh38] ChrX:107430376 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4072T>C (p.Ser1358Pro) |
single nucleotide variant |
not provided [RCV002629513] |
ChrX:108163036 [GRCh38] ChrX:107406266 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4168C>A (p.Pro1390Thr) |
single nucleotide variant |
not provided [RCV003065768] |
ChrX:108162940 [GRCh38] ChrX:107406170 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1767+12G>A |
single nucleotide variant |
not provided [RCV003086357] |
ChrX:108187836 [GRCh38] ChrX:107431066 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3838C>T (p.Pro1280Ser) |
single nucleotide variant |
not provided [RCV002580627] |
ChrX:108165009 [GRCh38] ChrX:107408239 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.671G>A (p.Gly224Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002878306] |
ChrX:108205455 [GRCh38] ChrX:107448685 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1247G>A (p.Arg416His) |
single nucleotide variant |
not provided [RCV003088601] |
ChrX:108191467 [GRCh38] ChrX:107434697 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4285C>T (p.Leu1429Phe) |
single nucleotide variant |
not provided [RCV002630412] |
ChrX:108161667 [GRCh38] ChrX:107404897 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4413G>A (p.Lys1471=) |
single nucleotide variant |
not provided [RCV002647577] |
ChrX:108160575 [GRCh38] ChrX:107403805 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1453G>A (p.Gly485Ser) |
single nucleotide variant |
not provided [RCV002580752] |
ChrX:108188651 [GRCh38] ChrX:107431881 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.324+6T>C |
single nucleotide variant |
not provided [RCV003031034] |
ChrX:108219692 [GRCh38] ChrX:107462922 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4265T>C (p.Leu1422Pro) |
single nucleotide variant |
not provided [RCV002632863] |
ChrX:108161687 [GRCh38] ChrX:107404917 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.208G>A (p.Gly70Ser) |
single nucleotide variant |
not provided [RCV002806429] |
ChrX:108221311 [GRCh38] ChrX:107464541 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3687T>C (p.Asp1229=) |
single nucleotide variant |
not provided [RCV003089826] |
ChrX:108169499 [GRCh38] ChrX:107412729 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.908C>G (p.Pro303Arg) |
single nucleotide variant |
not provided [RCV002653334] |
ChrX:108195122 [GRCh38] ChrX:107438352 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3692-8C>G |
single nucleotide variant |
not provided [RCV002942499] |
ChrX:108165494 [GRCh38] ChrX:107408724 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1262C>G (p.Ala421Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003066554]|not provided [RCV003050930] |
ChrX:108191452 [GRCh38] ChrX:107434682 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.215C>T (p.Ser72Leu) |
single nucleotide variant |
not provided [RCV003066622] |
ChrX:108221304 [GRCh38] ChrX:107464534 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4531G>T (p.Ala1511Ser) |
single nucleotide variant |
not provided [RCV002583870] |
ChrX:108159743 [GRCh38] ChrX:107402973 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1142G>A (p.Arg381His) |
single nucleotide variant |
not provided [RCV002633898] |
ChrX:108192511 [GRCh38] ChrX:107435741 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3444C>G (p.His1148Gln) |
single nucleotide variant |
not provided [RCV003051540] |
ChrX:108170658 [GRCh38] ChrX:107413888 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2578G>A (p.Gly860Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002724142] |
ChrX:108176949 [GRCh38] ChrX:107420179 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4239C>T (p.Ile1413=) |
single nucleotide variant |
COL4A6-related condition [RCV003943720]|not provided [RCV003070679] |
ChrX:108161713 [GRCh38] ChrX:107404943 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_033641.4(COL4A6):c.3995T>G (p.Met1332Arg) |
single nucleotide variant |
not provided [RCV002635119] |
ChrX:108164674 [GRCh38] ChrX:107407904 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2486C>G (p.Pro829Arg) |
single nucleotide variant |
not provided [RCV002607515] |
ChrX:108178713 [GRCh38] ChrX:107421943 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3277+6G>A |
single nucleotide variant |
not provided [RCV003071735] |
ChrX:108171381 [GRCh38] ChrX:107414611 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.773G>T (p.Gly258Val) |
single nucleotide variant |
not provided [RCV002585286] |
ChrX:108204327 [GRCh38] ChrX:107447557 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2971G>C (p.Ala991Pro) |
single nucleotide variant |
not provided [RCV002611474] |
ChrX:108174607 [GRCh38] ChrX:107417837 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2128C>A (p.Pro710Thr) |
single nucleotide variant |
not provided [RCV003069748] |
ChrX:108180518 [GRCh38] ChrX:107423748 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4350A>G (p.Gln1450=) |
single nucleotide variant |
COL4A6-related condition [RCV003936540]|not provided [RCV003070295] |
ChrX:108160638 [GRCh38] ChrX:107403868 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2506G>A (p.Gly836Ser) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV003145717] |
ChrX:108178693 [GRCh38] ChrX:107421923 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.628G>C (p.Gly210Arg) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV003145718] |
ChrX:108205677 [GRCh38] ChrX:107448907 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.74C>T (p.Ser25Phe) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV003145716] |
ChrX:108310818 [GRCh38] ChrX:107554048 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NC_000023.10:g.(?_107681152)_(107783055_?)del |
deletion |
not provided [RCV003154900] |
ChrX:107681152..107783055 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_033641.4(COL4A6):c.80G>C (p.Gly27Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003205444] |
ChrX:108310812 [GRCh38] ChrX:107554042 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.5059A>G (p.Met1687Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003204880] |
ChrX:108157014 [GRCh38] ChrX:107400244 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.908C>T (p.Pro303Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003194800] |
ChrX:108195122 [GRCh38] ChrX:107438352 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2709C>G (p.Phe903Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003378784] |
ChrX:108175775 [GRCh38] ChrX:107419005 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3917G>A (p.Gly1306Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003376169] |
ChrX:108164930 [GRCh38] ChrX:107408160 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3785G>A (p.Arg1262Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003351164]|not provided [RCV003565656] |
ChrX:108165393 [GRCh38] ChrX:107408623 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.310A>G (p.Ile104Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003375948] |
ChrX:108219712 [GRCh38] ChrX:107462942 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3257C>A (p.Pro1086His) |
single nucleotide variant |
Inborn genetic diseases [RCV003369781] |
ChrX:108171407 [GRCh38] ChrX:107414637 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1768-13A>T |
single nucleotide variant |
not provided [RCV003570295] |
ChrX:108187292 [GRCh38] ChrX:107430522 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.948+9G>C |
single nucleotide variant |
not provided [RCV003686378] |
ChrX:108195073 [GRCh38] ChrX:107438303 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_001847.4(COL4A6):c.2_9dup (p.Asn4delinsCysLeuTer) |
duplication |
not provided [RCV003682837] |
ChrX:108439362..108439363 [GRCh38] ChrX:107682592..107682593 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4358T>C (p.Phe1453Ser) |
single nucleotide variant |
not provided [RCV003571681] |
ChrX:108160630 [GRCh38] ChrX:107403860 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 |
copy number loss |
not provided [RCV003483927] |
ChrX:91274467..126799984 [GRCh37] ChrX:Xq21.31-25 |
pathogenic |
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 |
copy number gain |
not provided [RCV003485304] |
ChrX:77212972..118576590 [GRCh37] ChrX:Xq21.1-24 |
pathogenic |
NM_033641.4(COL4A6):c.1885C>T (p.Arg629Cys) |
single nucleotide variant |
not provided [RCV003432342] |
ChrX:108187162 [GRCh38] ChrX:107430392 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3900A>T (p.Gly1300=) |
single nucleotide variant |
not provided [RCV003432340] |
ChrX:108164947 [GRCh38] ChrX:107408177 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3843del (p.Pro1283fs) |
deletion |
COL4A6-related condition [RCV003412104] |
ChrX:108165004 [GRCh38] ChrX:107408234 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1147C>T (p.Pro383Ser) |
single nucleotide variant |
COL4A6-related condition [RCV003420754] |
ChrX:108192506 [GRCh38] ChrX:107435736 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3919G>C (p.Asp1307His) |
single nucleotide variant |
not provided [RCV003432339] |
ChrX:108164928 [GRCh38] ChrX:107408158 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4259G>C (p.Ser1420Thr) |
single nucleotide variant |
COL4A6-related condition [RCV003416699] |
ChrX:108161693 [GRCh38] ChrX:107404923 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3553del (p.His1185fs) |
deletion |
COL4A6-related condition [RCV003416930] |
ChrX:108169957 [GRCh38] ChrX:107413187 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2733T>C (p.Gly911=) |
single nucleotide variant |
not provided [RCV003432341] |
ChrX:108175751 [GRCh38] ChrX:107418981 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.609+7T>C |
single nucleotide variant |
not provided [RCV003432343] |
ChrX:108206511 [GRCh38] ChrX:107449741 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.295C>T (p.Pro99Ser) |
single nucleotide variant |
not provided [RCV003545635] |
ChrX:108219727 [GRCh38] ChrX:107462957 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1256T>C (p.Ile419Thr) |
single nucleotide variant |
COL4A6-related condition [RCV003919372]|not provided [RCV003740405] |
ChrX:108191458 [GRCh38] ChrX:107434688 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.4323A>T (p.Pro1441=) |
single nucleotide variant |
not provided [RCV003739941] |
ChrX:108161629 [GRCh38] ChrX:107404859 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4809C>T (p.Leu1603=) |
single nucleotide variant |
not provided [RCV003739021] |
ChrX:108159465 [GRCh38] ChrX:107402695 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1255A>G (p.Ile419Val) |
single nucleotide variant |
not provided [RCV003579518] |
ChrX:108191459 [GRCh38] ChrX:107434689 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4831G>C (p.Glu1611Gln) |
single nucleotide variant |
not provided [RCV003579527] |
ChrX:108157242 [GRCh38] ChrX:107400472 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.227G>A (p.Gly76Glu) |
single nucleotide variant |
Hearing loss, X-linked 6 [RCV003883235] |
ChrX:108221292 [GRCh38] ChrX:107464522 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3569C>G (p.Pro1190Arg) |
single nucleotide variant |
not provided [RCV003739091] |
ChrX:108169617 [GRCh38] ChrX:107412847 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2147G>A (p.Arg716His) |
single nucleotide variant |
not provided [RCV003572869] |
ChrX:108179423 [GRCh38] ChrX:107422653 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1426+16T>G |
single nucleotide variant |
not provided [RCV003690471] |
ChrX:108190376 [GRCh38] ChrX:107433606 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4182G>A (p.Gly1394=) |
single nucleotide variant |
not provided [RCV003692984] |
ChrX:108162926 [GRCh38] ChrX:107406156 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2243C>T (p.Ala748Val) |
single nucleotide variant |
not provided [RCV003694804] |
ChrX:108179327 [GRCh38] ChrX:107422557 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4740C>T (p.His1580=) |
single nucleotide variant |
not provided [RCV003825849] |
ChrX:108159534 [GRCh38] ChrX:107402764 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1005T>G (p.Gly335=) |
single nucleotide variant |
not provided [RCV003691125] |
ChrX:108193695 [GRCh38] ChrX:107436925 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1072+4C>A |
single nucleotide variant |
not provided [RCV003712865] |
ChrX:108193624 [GRCh38] ChrX:107436854 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.610-14T>A |
single nucleotide variant |
not provided [RCV003695829] |
ChrX:108205709 [GRCh38] ChrX:107448939 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.2957-9C>A |
single nucleotide variant |
not provided [RCV003713153] |
ChrX:108174630 [GRCh38] ChrX:107417860 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3139-5C>T |
single nucleotide variant |
not provided [RCV003739384] |
ChrX:108172537 [GRCh38] ChrX:107415767 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1727A>G (p.Lys576Arg) |
single nucleotide variant |
not provided [RCV003573357] |
ChrX:108187888 [GRCh38] ChrX:107431118 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1462_1464dup (p.Pro488_Asn489insPro) |
duplication |
not provided [RCV003694800] |
ChrX:108188639..108188640 [GRCh38] ChrX:107431869..107431870 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.687+20T>A |
single nucleotide variant |
not provided [RCV003694378] |
ChrX:108205419 [GRCh38] ChrX:107448649 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3692-16T>A |
single nucleotide variant |
not provided [RCV003882458] |
ChrX:108165502 [GRCh38] ChrX:107408732 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.556G>A (p.Gly186Arg) |
single nucleotide variant |
not provided [RCV003573839] |
ChrX:108206571 [GRCh38] ChrX:107449801 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3971-10del |
deletion |
not provided [RCV003579047] |
ChrX:108164708 [GRCh38] ChrX:107407938 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4452G>A (p.Gly1484=) |
single nucleotide variant |
not provided [RCV003828011] |
ChrX:108160536 [GRCh38] ChrX:107403766 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4399T>C (p.Tyr1467His) |
single nucleotide variant |
not provided [RCV003572498] |
ChrX:108160589 [GRCh38] ChrX:107403819 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2024-13T>A |
single nucleotide variant |
not provided [RCV003713777] |
ChrX:108180635 [GRCh38] ChrX:107423865 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1192G>T (p.Ala398Ser) |
single nucleotide variant |
not provided [RCV003548028] |
ChrX:108191522 [GRCh38] ChrX:107434752 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.511-9G>A |
single nucleotide variant |
not provided [RCV003546214] |
ChrX:108210013 [GRCh38] ChrX:107453243 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2075G>A (p.Ser692Asn) |
single nucleotide variant |
COL4A6-related condition [RCV003946722]|not provided [RCV003579776] |
ChrX:108180571 [GRCh38] ChrX:107423801 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1436G>T (p.Gly479Val) |
single nucleotide variant |
not provided [RCV003724479] |
ChrX:108188668 [GRCh38] ChrX:107431898 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.562C>A (p.Pro188Thr) |
single nucleotide variant |
not provided [RCV003561928] |
ChrX:108206565 [GRCh38] ChrX:107449795 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3565+12C>T |
single nucleotide variant |
not provided [RCV003673380] |
ChrX:108169933 [GRCh38] ChrX:107413163 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4333+18T>G |
single nucleotide variant |
not provided [RCV003698110] |
ChrX:108161601 [GRCh38] ChrX:107404831 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3138+10A>G |
single nucleotide variant |
not provided [RCV003666488] |
ChrX:108174430 [GRCh38] ChrX:107417660 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4900G>A (p.Glu1634Lys) |
single nucleotide variant |
not provided [RCV003561757] |
ChrX:108157173 [GRCh38] ChrX:107400403 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1172C>T (p.Ala391Val) |
single nucleotide variant |
not provided [RCV003561865] |
ChrX:108192481 [GRCh38] ChrX:107435711 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4516C>T (p.Gln1506Ter) |
single nucleotide variant |
not provided [RCV003561676] |
ChrX:108160472 [GRCh38] ChrX:107403702 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.687+19A>G |
single nucleotide variant |
not provided [RCV003703375] |
ChrX:108205420 [GRCh38] ChrX:107448650 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.648G>A (p.Gly216=) |
single nucleotide variant |
not provided [RCV003561594] |
ChrX:108205478 [GRCh38] ChrX:107448708 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4525+17A>C |
single nucleotide variant |
not provided [RCV003560595] |
ChrX:108160446 [GRCh38] ChrX:107403676 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.283C>T (p.Pro95Ser) |
single nucleotide variant |
not provided [RCV003855278] |
ChrX:108219739 [GRCh38] ChrX:107462969 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4881dup (p.Arg1628fs) |
duplication |
not provided [RCV003668166] |
ChrX:108157191..108157192 [GRCh38] ChrX:107400421..107400422 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.22C>T (p.Leu8Phe) |
single nucleotide variant |
not provided [RCV003673585] |
ChrX:108437983 [GRCh38] ChrX:107681213 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1941C>G (p.Pro647=) |
single nucleotide variant |
not provided [RCV003561382] |
ChrX:108187106 [GRCh38] ChrX:107430336 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3202+15T>G |
single nucleotide variant |
not provided [RCV003666935] |
ChrX:108172454 [GRCh38] ChrX:107415684 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.18_38dup (p.Leu12_Cys13insTrpLeuLeuLeuValThrLeu) |
duplication |
not provided [RCV003559320] |
ChrX:108437966..108437967 [GRCh38] ChrX:107681196..107681197 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.646-19C>T |
single nucleotide variant |
not provided [RCV003724284] |
ChrX:108205499 [GRCh38] ChrX:107448729 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.511-6T>C |
single nucleotide variant |
not provided [RCV003559150] |
ChrX:108210010 [GRCh38] ChrX:107453240 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2223C>T (p.Gly741=) |
single nucleotide variant |
COL4A6-related condition [RCV003901159]|not provided [RCV003559285] |
ChrX:108179347 [GRCh38] ChrX:107422577 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.903+12G>A |
single nucleotide variant |
not provided [RCV003579621] |
ChrX:108196499 [GRCh38] ChrX:107439729 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.3386-13G>A |
single nucleotide variant |
not provided [RCV003701309] |
ChrX:108170729 [GRCh38] ChrX:107413959 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3662C>T (p.Pro1221Leu) |
single nucleotide variant |
not provided [RCV003727391] |
ChrX:108169524 [GRCh38] ChrX:107412754 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3278-3T>A |
single nucleotide variant |
not provided [RCV003704242] |
ChrX:108170920 [GRCh38] ChrX:107414150 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4525+12C>T |
single nucleotide variant |
not provided [RCV003736183] |
ChrX:108160451 [GRCh38] ChrX:107403681 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4333+19A>G |
single nucleotide variant |
not provided [RCV003859993] |
ChrX:108161600 [GRCh38] ChrX:107404830 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1073-14C>T |
single nucleotide variant |
not provided [RCV003706299] |
ChrX:108192594 [GRCh38] ChrX:107435824 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3888T>G (p.Pro1296=) |
single nucleotide variant |
not provided [RCV003676176] |
ChrX:108164959 [GRCh38] ChrX:107408189 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4367C>T (p.Pro1456Leu) |
single nucleotide variant |
not provided [RCV003542015] |
ChrX:108160621 [GRCh38] ChrX:107403851 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.409C>T (p.Pro137Ser) |
single nucleotide variant |
not provided [RCV003551035] |
ChrX:108214144 [GRCh38] ChrX:107457374 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3942T>C (p.Ser1314=) |
single nucleotide variant |
not provided [RCV003567398] |
ChrX:108164905 [GRCh38] ChrX:107408135 [GRCh37] ChrX:Xq22.3 |
benign |
NM_033641.4(COL4A6):c.2928C>T (p.Ala976=) |
single nucleotide variant |
not provided [RCV003554724] |
ChrX:108175118 [GRCh38] ChrX:107418348 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.141G>A (p.Ala47=) |
single nucleotide variant |
not provided [RCV003854117] |
ChrX:108310751 [GRCh38] ChrX:107553981 [GRCh37] ChrX:Xq22.3 |
likely benign |
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) |
copy number loss |
not specified [RCV003986202] |
ChrX:103405294..155233731 [GRCh37] ChrX:Xq22.2-28 |
pathogenic |
NM_033641.4(COL4A6):c.958G>T (p.Gly320Trp) |
single nucleotide variant |
not provided [RCV003555659] |
ChrX:108194578 [GRCh38] ChrX:107437808 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.834+5G>A |
single nucleotide variant |
not provided [RCV003721038] |
ChrX:108202923 [GRCh38] ChrX:107446153 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2808_2809inv (p.Ala937Thr) |
inversion |
not provided [RCV003554733] |
ChrX:108175675..108175676 [GRCh38] ChrX:107418905..107418906 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4333+19A>C |
single nucleotide variant |
not provided [RCV003554832] |
ChrX:108161600 [GRCh38] ChrX:107404830 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4143G>A (p.Leu1381=) |
single nucleotide variant |
not provided [RCV003683828] |
ChrX:108162965 [GRCh38] ChrX:107406195 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3566-8C>T |
single nucleotide variant |
COL4A6-related condition [RCV003939138]|not provided [RCV003684748] |
ChrX:108169628 [GRCh38] ChrX:107412858 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2509A>C (p.Ile837Leu) |
single nucleotide variant |
not provided [RCV003551370] |
ChrX:108178690 [GRCh38] ChrX:107421920 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1731C>T (p.Asp577=) |
single nucleotide variant |
not provided [RCV003555385] |
ChrX:108187884 [GRCh38] ChrX:107431114 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3008C>G (p.Pro1003Arg) |
single nucleotide variant |
not provided [RCV003682134] |
ChrX:108174570 [GRCh38] ChrX:107417800 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4737G>A (p.Val1579=) |
single nucleotide variant |
not provided [RCV003863143] |
ChrX:108159537 [GRCh38] ChrX:107402767 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3610C>T (p.Pro1204Ser) |
single nucleotide variant |
not provided [RCV003722760] |
ChrX:108169576 [GRCh38] ChrX:107412806 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3494-15_3494-12del |
deletion |
not provided [RCV003682532] |
ChrX:108170028..108170031 [GRCh38] ChrX:107413258..107413261 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.5042G>A (p.Ser1681Asn) |
single nucleotide variant |
not provided [RCV003685099] |
ChrX:108157031 [GRCh38] ChrX:107400261 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2910A>G (p.Lys970=) |
single nucleotide variant |
not provided [RCV003562758] |
ChrX:108175136 [GRCh38] ChrX:107418366 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1986C>T (p.Tyr662=) |
single nucleotide variant |
COL4A6-related condition [RCV003939060]|not provided [RCV003541802] |
ChrX:108180934 [GRCh38] ChrX:107424164 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1106C>T (p.Pro369Leu) |
single nucleotide variant |
not provided [RCV003722453] |
ChrX:108192547 [GRCh38] ChrX:107435777 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1951+14T>C |
single nucleotide variant |
not provided [RCV003551041] |
ChrX:108187082 [GRCh38] ChrX:107430312 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3595G>T (p.Ala1199Ser) |
single nucleotide variant |
not provided [RCV003680633] |
ChrX:108169591 [GRCh38] ChrX:107412821 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3278-10G>T |
single nucleotide variant |
not provided [RCV003679263] |
ChrX:108170927 [GRCh38] ChrX:107414157 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2981C>T (p.Pro994Leu) |
single nucleotide variant |
not provided [RCV003866667] |
ChrX:108174597 [GRCh38] ChrX:107417827 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4050G>A (p.Lys1350=) |
single nucleotide variant |
not provided [RCV003680686] |
ChrX:108164619 [GRCh38] ChrX:107407849 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4345C>A (p.Gln1449Lys) |
single nucleotide variant |
not provided [RCV003705199] |
ChrX:108160643 [GRCh38] ChrX:107403873 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.4348C>A (p.Gln1450Lys) |
single nucleotide variant |
not provided [RCV003563398] |
ChrX:108160640 [GRCh38] ChrX:107403870 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.217G>A (p.Gly73Arg) |
single nucleotide variant |
not provided [RCV003566031] |
ChrX:108221302 [GRCh38] ChrX:107464532 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2881A>G (p.Met961Val) |
single nucleotide variant |
not provided [RCV003729742] |
ChrX:108175165 [GRCh38] ChrX:107418395 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3637A>G (p.Ile1213Val) |
single nucleotide variant |
not provided [RCV003556398] |
ChrX:108169549 [GRCh38] ChrX:107412779 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1180+18A>G |
single nucleotide variant |
not provided [RCV003556400] |
ChrX:108192455 [GRCh38] ChrX:107435685 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.2023+4T>C |
single nucleotide variant |
COL4A6-related condition [RCV003919325]|not provided [RCV003710804] |
ChrX:108180893 [GRCh38] ChrX:107424123 [GRCh37] ChrX:Xq22.3 |
likely benign|uncertain significance |
NM_033641.4(COL4A6):c.1762C>T (p.Leu588Phe) |
single nucleotide variant |
not provided [RCV003562678] |
ChrX:108187853 [GRCh38] ChrX:107431083 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.2157G>C (p.Lys719Asn) |
single nucleotide variant |
not provided [RCV003731277] |
ChrX:108179413 [GRCh38] ChrX:107422643 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3028A>C (p.Lys1010Gln) |
single nucleotide variant |
not provided [RCV003733286] |
ChrX:108174550 [GRCh38] ChrX:107417780 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1011G>A (p.Lys337=) |
single nucleotide variant |
not provided [RCV003736114] |
ChrX:108193689 [GRCh38] ChrX:107436919 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4076C>A (p.Ser1359Tyr) |
single nucleotide variant |
not provided [RCV003550846] |
ChrX:108163032 [GRCh38] ChrX:107406262 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1857A>G (p.Gly619=) |
single nucleotide variant |
COL4A6-related condition [RCV003899260] |
ChrX:108187190 [GRCh38] ChrX:107430420 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1550G>A (p.Arg517Gln) |
single nucleotide variant |
COL4A6-related condition [RCV003894116] |
ChrX:108188554 [GRCh38] ChrX:107431784 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.3429A>T (p.Pro1143=) |
single nucleotide variant |
COL4A6-related condition [RCV003894306] |
ChrX:108170673 [GRCh38] ChrX:107413903 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.4362G>A (p.Gly1454=) |
single nucleotide variant |
COL4A6-related condition [RCV003952286] |
ChrX:108160626 [GRCh38] ChrX:107403856 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3420A>T (p.Pro1140=) |
single nucleotide variant |
COL4A6-related condition [RCV003899702] |
ChrX:108170682 [GRCh38] ChrX:107413912 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.436C>T (p.Pro146Ser) |
single nucleotide variant |
COL4A6-related condition [RCV003982613] |
ChrX:108214117 [GRCh38] ChrX:107457347 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1721C>G (p.Pro574Arg) |
single nucleotide variant |
COL4A6-related condition [RCV003958899] |
ChrX:108187894 [GRCh38] ChrX:107431124 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_033641.4(COL4A6):c.1603C>T (p.Leu535=) |
single nucleotide variant |
COL4A6-related condition [RCV003916791] |
ChrX:108188012 [GRCh38] ChrX:107431242 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.3726C>T (p.Pro1242=) |
single nucleotide variant |
COL4A6-related condition [RCV003969630] |
ChrX:108165452 [GRCh38] ChrX:107408682 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_033641.4(COL4A6):c.1308A>C (p.Pro436=) |
single nucleotide variant |
COL4A6-related condition [RCV003912107] |
ChrX:108191406 [GRCh38] ChrX:107434636 [GRCh37] ChrX:Xq22.3 |
likely benign |
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 |
copy number gain |
not provided [RCV003885530] |
ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28 |
pathogenic |