ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP
NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro) rs72554639
NM_000052.7(ATP7A):c.1996G>A (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.2172G>T (p.Gln724His) rs797045348
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp) rs797045350
NM_000052.7(ATP7A):c.2750T>A (p.Val917Asp) rs797045362
NM_000052.7(ATP7A):c.2781G>C (p.Lys927Asn) rs797045363
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3294+1G>T rs797045374
NM_000052.7(ATP7A):c.3352G>T (p.Gly1118Cys) rs797045376
NM_000052.7(ATP7A):c.3800A>T (p.Gln1267Leu) rs797045385
NM_000052.7(ATP7A):c.3801+4A>G rs797045387
NM_000052.7(ATP7A):c.4123G>A (p.Gly1375Arg) rs797045394
NM_000052.7(ATP7A):c.4187C>T (p.Ser1396Leu) rs797045396
NM_000252.2(MTM1):c.1036T>C (p.Trp346Arg) rs587783750
NM_000252.2(MTM1):c.1180G>C (p.Asp394His) rs587783760
NM_000252.2(MTM1):c.1233G>T (p.Trp411Cys) rs587783764
NM_000252.2(MTM1):c.1234A>G (p.Ile412Val) rs587783765
NM_000252.2(MTM1):c.1260+5G>A rs587783769
NM_000252.2(MTM1):c.1307C>T (p.Pro436Leu) rs587783774
NM_000252.2(MTM1):c.1325T>A (p.Ile442Asn) rs587783776
NM_000252.2(MTM1):c.1328A>C (p.Asp443Ala) rs587783777
NM_000252.2(MTM1):c.1388T>C (p.Leu463Ser) rs587783787
NM_000252.2(MTM1):c.1388T>G (p.Leu463Trp) rs587783787
NM_000252.2(MTM1):c.1490C>A (p.Ser497Tyr) rs587783800
NM_000252.2(MTM1):c.342+4A>G rs587783820
NM_000252.2(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.2(MTM1):c.63+3A>T rs587783844
NM_000252.2(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.2(MTM1):c.743G>T (p.Gly248Val) rs587783853
NM_000252.2(MTM1):c.921_923CTT[1] (p.Phe308del) rs587783862
NM_001042537.1(SLC9A6):c.526-9_526-5del rs796053290
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile) rs587784299
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001931.4(DLAT):c.848_849del (p.Asp283Glyfs) rs782704553
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245
NM_003159.2(CDKL5):c.526T>C (p.Trp176Arg) rs587783084
NM_003159.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532
NM_003588.3(CUL4B):c.2687G>A (p.Arg896Gln) rs1556173896
NM_003688.3(CASK):c.2168A>G (p.Tyr723Cys) rs398122844
NM_003688.3(CASK):c.764G>A (p.Arg255His) rs587783369
NM_004187.4(KDM5C):c.1613C>T (p.Pro538Leu) rs587780372
NM_004429.4(EFNB1):c.131T>C (p.Phe44Ser) rs1556105849
NM_004429.4(EFNB1):c.523C>T (p.Gln175Ter) rs1556107856
NM_004992.3(MECP2):c.452A>G (p.Asp151Gly) rs61748403
NM_005249.5(FOXG1):c.644_645delinsCT (p.Phe215Ser) rs786204998
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.685A>C (p.Ile229Leu) rs1064797186
NM_005249.5(FOXG1):c.713G>A (p.Cys238Tyr) rs1555321337
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val) rs587783640
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser) rs587783643
NM_006517.4(SLC16A2):c.461_463delTCT (p.Phe156del) rs387906501
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu) rs104894936
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_139058.3(ARX):c.1121T>A (p.Val374Asp) rs587783183
NM_139058.3(ARX):c.1134C>A (p.Asn378Lys) rs587783184
NM_139058.3(ARX):c.426_461dup (p.Gly143_Ala154dup) rs1556056131

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