ClinVar Miner

List of variants reported as pathogenic for cutis laxa

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys) rs1306393544 0.00022
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys) rs121918376 0.00014
NM_003573.2(LTBP4):c.254del (p.Leu85fs) rs747013505 0.00010
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) rs146579504 0.00010
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00009
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) rs281875318 0.00007
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln) rs121918374 0.00007
NM_002860.4(ALDH18A1):c.2345A>G (p.Tyr782Cys) rs774047299 0.00006
NM_006907.4(PYCR1):c.752G>A (p.Arg251His) rs121918378 0.00006
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243 0.00005
NM_030777.4(SLC2A10):c.395G>A (p.Arg132Gln) rs376346077 0.00005
NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr) rs139751598 0.00004
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp) rs121908172 0.00004
NM_030777.4(SLC2A10):c.314G>A (p.Arg105His) rs753280877 0.00004
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln) rs537043237 0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_006907.4(PYCR1):c.540+1G>A rs752297179 0.00002
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) rs370547023 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_152281.3(GORAB):c.367G>T (p.Glu123Ter) rs119455951 0.00002
NM_001042545.2(LTBP4):c.1252C>T (p.Arg418Ter) rs397515430 0.00001
NM_002860.4(ALDH18A1):c.1923+1G>A rs863223315 0.00001
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln) rs748925635 0.00001
NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His) rs768323248 0.00001
NM_002860.4(ALDH18A1):c.754C>T (p.Arg252Ter) rs758543218 0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro) rs765380273 0.00001
NM_003573.2(LTBP4):c.76-1G>A rs781735457 0.00001
NM_006907.4(PYCR1):c.356G>A (p.Arg119His) rs121918377 0.00001
NM_006907.4(PYCR1):c.59dup (p.Ala21fs) rs762218403 0.00001
NM_006907.4(PYCR1):c.722C>T (p.Ala241Val) rs770505872 0.00001
NM_006907.4(PYCR1):c.728A>G (p.His243Arg) rs2041098364 0.00001
NM_006907.4(PYCR1):c.743G>A (p.Gly248Glu) rs281875319 0.00001
NM_012463.4(ATP6V0A2):c.1514+1G>A rs374480381 0.00001
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750 0.00001
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) rs80356758 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 0.00001
NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter) rs763944898 0.00001
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) rs193302864 0.00001
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) rs763220502 0.00001
NM_030777.4(SLC2A10):c.1465G>C (p.Gly489Arg) rs201268555 0.00001
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) rs1015798796 0.00001
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter) rs756457861 0.00001
NM_152281.3(GORAB):c.784C>T (p.Arg262Ter) rs119455952 0.00001
ATP6V0A2, 1-BP INS, 100A
ATP7A, 8-BP DEL, NT1552
ELN, 1-BP DEL, 2159C
ELN, 25-BP DEL, NT2114
ELN, EX9-33DUP
GORAB, 1-BP DEL, 257C
NC_000010.10:g.(?_97376214)_(97376391_?)del
NC_000011.10:g.(?_65871960)_(65872944_?)del
NC_000020.10:g.(?_45357972)_(45358147_?)del
NC_000020.11:g.(?_46709717)_(46733854_?)del
NC_000023.10:g.(?_77227108)_(77227268_?)del
NC_000023.10:g.(?_77227108)_(77258743_?)del
NC_000023.10:g.(?_77243718)_(77245474_?)del
NC_000023.10:g.(?_77264993)_(77268389_?)del
NC_000023.10:g.(?_77266653)_(77271398_?)dup
NC_000023.10:g.(?_77270139)_(77271398_?)del
NC_000023.10:g.(?_77271231)_(77271398_?)del
NC_000023.10:g.(?_77275721)_(77279056_?)del
NC_000023.10:g.(?_77300947)_(77302067_?)del
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) rs72554636
NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer) rs2077660153
NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter)
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter) rs1569549699
NM_000052.7(ATP7A):c.1544-872C>G
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter)
NM_000052.7(ATP7A):c.1707+6T>A rs797045334
NM_000052.7(ATP7A):c.1870-1G>C rs797045338
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter) rs797045339
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu) rs151340631
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter)
NM_000052.7(ATP7A):c.1946+1G>T rs797045340
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter)
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter) rs2149095968
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2446del (p.Gln816fs)
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer) rs1569549974
NM_000052.7(ATP7A):c.2497A>G (p.Ser833Gly) rs2149096859
NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly) rs2077859082
NM_000052.7(ATP7A):c.2663del (p.Thr888fs) rs2077896094
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter) rs72554650
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs) rs1603389393
NM_000052.7(ATP7A):c.3294+1G>A rs797045374
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter) rs1557237451
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter) rs2078030304
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter) rs2149109587
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter) rs1603391120
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser) rs151340632
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs) rs2078061940
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs) rs797045397
NM_000052.7(ATP7A):c.4352del (p.Gly1451fs) rs1569550376
NM_000052.7(ATP7A):c.453del (p.Thr152fs) rs1603381331
NM_000052.7(ATP7A):c.462dup (p.Lys155fs) rs2077652014
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000052.7(ATP7A):c.657_661del (p.Ile220fs)
NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter) rs2149083118
NM_000052.7(ATP7A):c.870_871del (p.Ser293fs)
NM_000052.7(ATP7A):c.897del (p.Leu299fs)
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.4(ELN):c.1946del (p.Gly649fs) rs1797225811
NM_000501.4(ELN):c.1973del (p.Pro658fs)
NM_000501.4(ELN):c.2058del (p.Gly688fs) rs886039351
NM_001039348.3(EFEMP1):c.1201C>T (p.Arg401Ter) rs2104369155
NM_001042545.2(LTBP4):c.1360del (p.Arg454fs) rs1307726290
NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter) rs1568406407
NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter) rs2146029786
NM_001042545.2(LTBP4):c.2481C>A (p.Cys827Ter) rs267607228
NM_001042545.2(LTBP4):c.3464del (p.Gln1155fs) rs606231159
NM_001042545.2(LTBP4):c.4025dup (p.Tyr1343fs) rs797044471
NM_001042545.2(LTBP4):c.4037dup (p.Arg1347fs) rs606231161
NM_001042545.2(LTBP4):c.4039C>T (p.Arg1347Ter) rs1382026467
NM_001042545.2(LTBP4):c.688G>T (p.Glu230Ter)
NM_001042545.2(LTBP4):c.701del (p.Pro234fs) rs606231160
NM_001042545.2(LTBP4):c.730T>G (p.Cys244Gly) rs267607229
NM_001690.4(ATP6V1A):c.1012C>T (p.Arg338Cys) rs1060505036
NM_001690.4(ATP6V1A):c.215G>A (p.Gly72Asp) rs1060505037
NM_001696.4(ATP6V1E1):c.383T>C (p.Leu128Pro) rs1060505031
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp) rs1028534806
NM_002860.4(ALDH18A1):c.1227dup (p.Asp410fs)
NM_002860.4(ALDH18A1):c.1321C>T (p.Arg441Ter) rs145289559
NM_002860.4(ALDH18A1):c.1499G>T (p.Gly500Val) rs1194593234
NM_002860.4(ALDH18A1):c.1713dup (p.Lys572Ter)
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs) rs1555264243
NM_002860.4(ALDH18A1):c.1795del (p.Arg599fs)
NM_002860.4(ALDH18A1):c.1802-4_1924-902delinsG
NM_002860.4(ALDH18A1):c.1804del (p.Arg602fs)
NM_002860.4(ALDH18A1):c.1993C>T (p.Arg665Ter)
NM_002860.4(ALDH18A1):c.2117_2118del (p.Thr706fs)
NM_002860.4(ALDH18A1):c.2131del (p.Leu711fs) rs587777858
NM_002860.4(ALDH18A1):c.2350C>T (p.His784Tyr) rs121434583
NM_002860.4(ALDH18A1):c.339del (p.Met113fs)
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala) rs863224945
NM_002860.4(ALDH18A1):c.401C>T (p.Ser134Phe) rs2139621988
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) rs863225044
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln) rs863225045
NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu) rs863225045
NM_002860.4(ALDH18A1):c.545del (p.Ile182fs)
NM_002860.4(ALDH18A1):c.741del (p.Asp247fs) rs1555262375
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670
NM_006329.3(FBLN5):c.380-9061_873dup
NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter) rs746506432
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter) rs80338767
NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs) rs1595286986
NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg) rs80338766
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro) rs28939370
NM_006907.4(PYCR1):c.11G>T (p.Gly4Val) rs1598358440
NM_006907.4(PYCR1):c.11del (p.Gly4fs) rs1598358449
NM_006907.4(PYCR1):c.345del (p.Arg116fs) rs758601634
NM_006907.4(PYCR1):c.355C>G (p.Arg119Gly) rs121918376
NM_006907.4(PYCR1):c.616G>T (p.Gly206Trp) rs121918375
NM_006907.4(PYCR1):c.618_633+7del rs1598354372
NM_006907.4(PYCR1):c.67+2T>A rs2041207320
NM_006907.4(PYCR1):c.797+2_797+5del rs1371235353
NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs) rs1956563926
NM_012463.4(ATP6V0A2):c.2176-3_2176-2del rs367543007
NM_012463.4(ATP6V0A2):c.2231_2255dup (p.Tyr753fs) rs1220385043
NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs) rs1566294545
NM_012463.4(ATP6V0A2):c.294+1G>A rs80356751
NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer) rs1956462432
NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs) rs193302865
NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr) rs193302868
NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys) rs119489101
NM_016938.5(EFEMP2):c.290dup (p.Pro98fs)
NM_016938.5(EFEMP2):c.338_339del (p.Gly112_Tyr113insTer)
NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val) rs193302869
NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg) rs1859949436
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys) rs761656636
NM_016938.5(EFEMP2):c.577del (p.Gln193fs) rs193302870
NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys) rs397514683
NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr) rs193302866
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) rs119489102
NM_016938.5(EFEMP2):c.859dup (p.Cys287fs)
NM_016938.5(EFEMP2):c.861T>A (p.Cys287Ter) rs1044449024
NM_016938.5(EFEMP2):c.917dup (p.Tyr307fs)
NM_016938.5(EFEMP2):c.919_952dup (p.Pro318fs) rs2134747667
NM_018993.4(RIN2):c.1731del (p.Ile578fs) rs759390822
NM_018993.4(RIN2):c.1731dup (p.Ile578fs) rs759390822
NM_018993.4(RIN2):c.1914_1915del (p.Glu638fs) rs587776915
NM_018993.4(RIN2):c.2104dup (p.Leu702fs) rs1568718508
NM_030777.4(SLC2A10):c.10del (p.Ser4fs)
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) rs587776600
NM_030777.4(SLC2A10):c.1424T>A (p.Leu475Ter) rs2123062030
NM_030777.4(SLC2A10):c.1A>G (p.Met1Val)
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_030777.4(SLC2A10):c.289del (p.Ser97fs)
NM_030777.4(SLC2A10):c.343_832delinsC (p.Ser115_Ala278delinsPro)
NM_030777.4(SLC2A10):c.473_476del (p.Ala158fs) rs2123045055
NM_030777.4(SLC2A10):c.483del (p.Trp162fs) rs2123045187
NM_030777.4(SLC2A10):c.485G>A (p.Trp162Ter) rs2123045274
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter) rs80358229
NM_030777.4(SLC2A10):c.961del (p.Val321fs) rs587776599
NM_152281.2(GORAB):c.-1_1delGAinsCT (p.Met(?_1)_Met1(?)) rs1557999318
NM_152281.3(GORAB):c.103C>T (p.Arg35Ter)
NM_152281.3(GORAB):c.190C>T (p.Gln64Ter) rs1461050152
NM_152281.3(GORAB):c.231dup (p.Pro78fs) rs1571243797
NM_152281.3(GORAB):c.658G>C (p.Ala220Pro) rs183596463
NM_152281.3(GORAB):c.662+5G>C rs1330106644
NM_206943.4(LTBP1):c.1342C>T (p.Gln448Ter) rs1441358067
NM_206943.4(LTBP1):c.3991dup (p.Thr1331fs) rs2149767574
NM_206943.4(LTBP1):c.4431T>A (p.Cys1477Ter) rs2150084747
NM_206943.4(LTBP1):c.4844del (p.Asn1615fs) rs2150785723

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