List of variants in gene PANK2 reported as uncertain significance for neuroacanthocytosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 119

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HGVS	dbSNP	gnomAD frequency
NM_001386393.1(PANK2):c.*382C>T	rs71647861	0.00144
NM_001386393.1(PANK2):c.*541C>T	rs886056655	0.00055
NM_001386393.1(PANK2):c.1265G>A (p.Arg422Gln)	rs371369186	0.00032
NM_001386393.1(PANK2):c.701A>C (p.Lys234Thr)	rs774676518	0.00011
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=)	rs564606657	0.00010
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu)	rs41279408	0.00010
NM_001386393.1(PANK2):c.887A>G (p.Lys296Arg)	rs763608502	0.00010
NM_001386393.1(PANK2):c.1189A>C (p.Met397Leu)	rs146902739	0.00009
NM_153638.4(PANK2):c.131G>T (p.Arg44Leu)	rs200253730	0.00009
NM_001386393.1(PANK2):c.815C>T (p.Pro272Leu)	rs368002284	0.00006
NM_001386393.1(PANK2):c.*376A>G	rs746515620	0.00005
NM_001386393.1(PANK2):c.434A>G (p.Asn145Ser)	rs143474105	0.00005
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly)	rs562740927	0.00005
NM_001386393.1(PANK2):c.*534A>G	rs780398812	0.00004
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys)	rs201329683	0.00004
NM_153638.4(PANK2):c.37T>C (p.Trp13Arg)	rs971003044	0.00003
NM_153638.4(PANK2):c.95C>T (p.Thr32Ile)	rs530609127	0.00003
NM_001386393.1(PANK2):c.466G>A (p.Val156Met)	rs753145257	0.00002
NM_001386393.1(PANK2):c.694T>C (p.Leu232=)	rs143090515	0.00002
NM_001386393.1(PANK2):c.*391C>G	rs1273989006	0.00001
NM_001386393.1(PANK2):c.*407A>G	rs886056654	0.00001
NM_001386393.1(PANK2):c.1068G>T (p.Trp356Cys)	rs767222898	0.00001
NM_001386393.1(PANK2):c.1263G>A (p.Met421Ile)	rs1600571977	0.00001
NM_001386393.1(PANK2):c.1322C>T (p.Ser441Leu)	rs967346135	0.00001
NM_001386393.1(PANK2):c.506A>G (p.Lys169Arg)	rs975735144	0.00001
NM_001386393.1(PANK2):c.629A>G (p.Lys210Arg)	rs1159023197	0.00001
NM_001386393.1(PANK2):c.765C>G (p.Asn255Lys)	rs1427550015	0.00001
NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr)	rs1012947103	0.00001
NM_001386393.1(PANK2):c.958A>G (p.Thr320Ala)	rs748901841	0.00001
NM_153638.4(PANK2):c.104C>T (p.Pro35Leu)	rs769505139	0.00001
NM_153638.4(PANK2):c.79C>A (p.Leu27Ile)	rs1427393180	0.00001
NC_000020.10:g.(?_3869748)_(3893301_?)dup
NM_001386393.1(PANK2):c.*468T>C	rs541731517
NM_001386393.1(PANK2):c.1010A>G (p.Asp337Gly)	rs1568575238
NM_001386393.1(PANK2):c.1097T>A (p.Met366Lys)
NM_001386393.1(PANK2):c.1100G>A (p.Ser367Asn)
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)	rs559623184
NM_001386393.1(PANK2):c.1111C>G (p.Arg371Gly)
NM_001386393.1(PANK2):c.1112G>A (p.Arg371Gln)	rs1241995212
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro)	rs1241995212
NM_001386393.1(PANK2):c.1143A>C (p.Arg381Ser)
NM_001386393.1(PANK2):c.1152G>C (p.Leu384Phe)
NM_001386393.1(PANK2):c.1160T>C (p.Ile387Thr)	rs2090571848
NM_001386393.1(PANK2):c.1188A>T (p.Arg396Ser)
NM_001386393.1(PANK2):c.1195G>A (p.Ala399Thr)
NM_001386393.1(PANK2):c.1201A>G (p.Asn401Asp)
NM_001386393.1(PANK2):c.1207-11G>A
NM_001386393.1(PANK2):c.1216C>G (p.Gln406Glu)	rs1183095944
NM_001386393.1(PANK2):c.1248_1256del (p.Asn417_Ile419del)
NM_001386393.1(PANK2):c.1285G>T (p.Asp429Tyr)
NM_001386393.1(PANK2):c.1309A>G (p.Lys437Glu)	rs2146893030
NM_001386393.1(PANK2):c.1318T>C (p.Phe440Leu)	rs138402319
NM_001386393.1(PANK2):c.1333-29_1333-8del
NM_001386393.1(PANK2):c.1354G>A (p.Ala452Thr)	rs886056652
NM_001386393.1(PANK2):c.1370T>A (p.Leu457Ter)
NM_001386393.1(PANK2):c.1383A>G (p.Ter461Trp)
NM_001386393.1(PANK2):c.314G>A (p.Gly105Glu)	rs762879569
NM_001386393.1(PANK2):c.317T>A (p.Leu106Gln)
NM_001386393.1(PANK2):c.322A>C (p.Ile108Leu)	rs188211202
NM_001386393.1(PANK2):c.358C>T (p.Pro120Ser)	rs2146859332
NM_001386393.1(PANK2):c.367A>G (p.Ile123Val)	rs2146859343
NM_001386393.1(PANK2):c.383A>G (p.Glu128Gly)	rs2090413830
NM_001386393.1(PANK2):c.393A>C (p.Glu131Asp)
NM_001386393.1(PANK2):c.394G>C (p.Val132Leu)
NM_001386393.1(PANK2):c.415_495dup (p.Arg139_Leu165dup)	rs1568569482
NM_001386393.1(PANK2):c.422A>G (p.Tyr141Cys)
NM_001386393.1(PANK2):c.425T>A (p.Leu142Gln)
NM_001386393.1(PANK2):c.425T>G (p.Leu142Arg)	rs2146859529
NM_001386393.1(PANK2):c.431C>T (p.Ser144Phe)
NM_001386393.1(PANK2):c.451A>G (p.Thr151Ala)
NM_001386393.1(PANK2):c.475G>A (p.Glu159Lys)	rs778263915
NM_001386393.1(PANK2):c.502_503delinsAC (p.Arg168Thr)
NM_001386393.1(PANK2):c.503G>A (p.Arg168His)
NM_001386393.1(PANK2):c.519C>A (p.His173Gln)	rs2090416889
NM_001386393.1(PANK2):c.526C>G (p.Arg176Gly)
NM_001386393.1(PANK2):c.566G>A (p.Gly189Asp)	rs975841680
NM_001386393.1(PANK2):c.632T>G (p.Phe211Cys)
NM_001386393.1(PANK2):c.651+3A>C	rs1131691472
NM_001386393.1(PANK2):c.651+3A>G	rs1131691472
NM_001386393.1(PANK2):c.652A>G (p.Ile218Val)
NM_001386393.1(PANK2):c.655G>T (p.Gly219Cys)	rs2146866714
NM_001386393.1(PANK2):c.695T>C (p.Leu232Ser)
NM_001386393.1(PANK2):c.706A>G (p.Ile236Val)	rs2090454168
NM_001386393.1(PANK2):c.710T>C (p.Leu237Ser)
NM_001386393.1(PANK2):c.717T>C (p.Ile239=)	rs1742717583
NM_001386393.1(PANK2):c.728G>A (p.Gly243Glu)	rs2146866985
NM_001386393.1(PANK2):c.731T>G (p.Phe244Cys)
NM_001386393.1(PANK2):c.752A>G (p.Tyr251Cys)	rs1568572918
NM_001386393.1(PANK2):c.766C>G (p.Pro256Ala)	rs777624606
NM_001386393.1(PANK2):c.769G>T (p.Ala257Ser)	rs1568572979
NM_001386393.1(PANK2):c.776C>G (p.Ser259Cys)
NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr)	rs149907912
NM_001386393.1(PANK2):c.802G>T (p.Asp268Tyr)
NM_001386393.1(PANK2):c.817T>C (p.Tyr273His)
NM_001386393.1(PANK2):c.838A>G (p.Ile280Val)
NM_001386393.1(PANK2):c.845C>T (p.Ser282Leu)	rs2090457090
NM_001386393.1(PANK2):c.854G>A (p.Ser285Asn)	rs2146867465
NM_001386393.1(PANK2):c.865G>C (p.Val289Leu)	rs1011938873
NM_001386393.1(PANK2):c.868T>C (p.Tyr290His)	rs1183615976
NM_001386393.1(PANK2):c.882T>G (p.Asn294Lys)	rs758080048
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp)	rs1288629241
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)
NM_001386393.1(PANK2):c.923T>G (p.Phe308Cys)	rs2146872412
NM_001386393.1(PANK2):c.932T>G (p.Leu311Arg)	rs2146872437
NM_001386393.1(PANK2):c.946A>G (p.Thr316Ala)
NM_001386393.1(PANK2):c.971C>A (p.Ala324Asp)	rs1031848408
NM_001386393.1(PANK2):c.989G>A (p.Arg330His)
NM_153638.4(PANK2):c.113C>A (p.Thr38Asn)	rs1426406978
NM_153638.4(PANK2):c.118C>T (p.Leu40Phe)
NM_153638.4(PANK2):c.126del (p.Arg44fs)	rs1600474748
NM_153638.4(PANK2):c.14G>A (p.Gly5Glu)
NM_153638.4(PANK2):c.160A>G (p.Thr54Ala)	rs2146803538
NM_153638.4(PANK2):c.31G>A (p.Val11Ile)	rs886044063
NM_153638.4(PANK2):c.38G>A (p.Trp13Ter)
NM_153638.4(PANK2):c.42_67del (p.Ala15fs)	rs760822872
NM_153638.4(PANK2):c.54A>G (p.Ser18=)	rs886056650
NM_153638.4(PANK2):c.55C>T (p.Leu19Phe)	rs1568549056
NM_153638.4(PANK2):c.58T>C (p.Ser20Pro)
NM_153638.4(PANK2):c.9G>T (p.Arg3Ser)	rs1211425299

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