ClinVar Miner

List of variants reported as pathogenic for Pigmentary pallidal degeneration

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly) rs562740927 0.00005
NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val) rs761156912 0.00004
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile) rs752078407 0.00004
NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter) rs1250997630 0.00003
NM_001386393.1(PANK2):c.1112_1114del (p.Arg371_Glu372delinsGln) rs766251466 0.00003
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) rs137852967 0.00002
NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp) rs753376100 0.00002
NM_001386393.1(PANK2):c.846_847del (p.Gly283_Val284insTer) rs778550409 0.00002
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly) rs763496520 0.00001
NM_001386393.1(PANK2):c.1083-1G>T rs148987163 0.00001
NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter) rs137852968 0.00001
NM_001386393.1(PANK2):c.243del (p.Ser81fs) rs916725028 0.00001
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys) rs1555787646 0.00001
NM_001386393.1(PANK2):c.353T>C (p.Phe118Ser) rs1360807330 0.00001
NM_001386393.1(PANK2):c.440_441insCT (p.Tyr148fs) rs1375490128 0.00001
NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp) rs137852961 0.00001
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln) rs368682034 0.00001
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys) rs137852962 0.00001
NM_001386393.1(PANK2):c.905+1G>C rs1135401789 0.00001
NM_001386393.1(PANK2):c.987del (p.Arg330fs) rs544616523 0.00001
GRCh37/hg19 20p13(chr20:3888573-3888925)
NC_000020.10:g.(?_3869748)_(3891497_?)del
NC_000020.10:g.(?_3888553)_(3888945_?)del
NC_000020.10:g.(?_3891204)_(3893301_?)del
NC_000020.11:g.(?_3889081)_(3912654_?)del
NC_000020.11:g.3863511_3918336del
NM_001386393.1(PANK2):c.104C>A (p.Ser35Ter)
NM_001386393.1(PANK2):c.1061C>G (p.Pro354Arg)
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn) rs137852963
NM_001386393.1(PANK2):c.1083-1G>A
NM_001386393.1(PANK2):c.1086del (p.Phe362fs) rs2146887806
NM_001386393.1(PANK2):c.1090_1096del (p.Gly363_Asn364insTer)
NM_001386393.1(PANK2):c.1094T>C (p.Met365Thr)
NM_001386393.1(PANK2):c.1096_1099del (p.Met366fs) rs1555789557
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro) rs1241995212
NM_001386393.1(PANK2):c.1145C>T (p.Ala382Val)
NM_001386393.1(PANK2):c.115G>T (p.Glu39Ter) rs528889529
NM_001386393.1(PANK2):c.1171_1174dup (p.Gly392fs)
NM_001386393.1(PANK2):c.1172T>A (p.Ile391Asn)
NM_001386393.1(PANK2):c.1172T>C (p.Ile391Thr)
NM_001386393.1(PANK2):c.118C>T (p.Gln40Ter)
NM_001386393.1(PANK2):c.1207-3C>G rs370766524
NM_001386393.1(PANK2):c.1261_1262del (p.Met421fs)
NM_001386393.1(PANK2):c.1277A>G (p.Tyr426Cys) rs1193865095
NM_001386393.1(PANK2):c.1352_1371del (p.Gly451fs) rs2090674600
NM_001386393.1(PANK2):c.1358T>A (p.Leu453His)
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs) rs755653150
NM_001386393.1(PANK2):c.185_197del (p.Val62fs)
NM_001386393.1(PANK2):c.189_201del (p.Ala64fs)
NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter) rs137852969
NM_001386393.1(PANK2):c.215_216insA (p.Arg73fs)
NM_001386393.1(PANK2):c.225del (p.Arg76fs)
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter) rs137852960
NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer) rs1600477446
NM_001386393.1(PANK2):c.262del (p.Arg88fs)
NM_001386393.1(PANK2):c.308G>A (p.Trp103Ter)
NM_001386393.1(PANK2):c.317dup (p.Asp107fs) rs2146859220
NM_001386393.1(PANK2):c.371_380del (p.Thr124fs)
NM_001386393.1(PANK2):c.493_494del (p.Leu165fs) rs750440690
NM_001386393.1(PANK2):c.498_499del (p.Cys166fs)
NM_001386393.1(PANK2):c.521_525dup (p.Arg176fs) rs1600534514
NM_001386393.1(PANK2):c.579del (p.Phe194fs) rs1568569941
NM_001386393.1(PANK2):c.600_606del (p.Phe201fs) rs879253712
NM_001386393.1(PANK2):c.604dup (p.Cys202fs)
NM_001386393.1(PANK2):c.606T>A (p.Cys202Ter) rs1555787799
NM_001386393.1(PANK2):c.635A>G (p.Glu212Gly)
NM_001386393.1(PANK2):c.636G>T (p.Glu212Asp)
NM_001386393.1(PANK2):c.652-1G>C rs2146866687
NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter) rs777414421
NM_001386393.1(PANK2):c.67A>G (p.Met23Val) rs2146804825
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro) rs754521581
NM_001386393.1(PANK2):c.755_758del (p.Tyr252fs) rs1600542260
NM_001386393.1(PANK2):c.756C>A (p.Tyr252Ter) rs1600542275
NM_001386393.1(PANK2):c.767del (p.Pro256fs) rs753400880
NM_001386393.1(PANK2):c.806del (p.Asp268_Leu269insTer)
NM_001386393.1(PANK2):c.832dup (p.Val278fs) rs2090456897
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp) rs1288629241
NM_001386393.1(PANK2):c.885C>G (p.Tyr295Ter)
NM_001386393.1(PANK2):c.905+1G>T rs1135401789
NM_001386393.1(PANK2):c.906-2A>C rs1261714833
NM_001386393.1(PANK2):c.906-99_929del rs2146872050
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs) rs1555788619
NM_001386393.1(PANK2):c.927del (p.Phe309fs) rs1568574931
NM_001386393.1(PANK2):c.940CTT[1] (p.Leu315del) rs1064794317
NM_001386393.1(PANK2):c.944T>C (p.Leu315Pro) rs2146872522
NM_001386393.1(PANK2):c.949_961del (p.Gly317fs)
NM_153638.4(PANK2):c.68_69insTG (p.His24fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.