List of variants reported as pathogenic for diffuse palmoplantar keratoderma by Invitae

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

Total variants: 142

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HGVS	dbSNP	gnomAD frequency
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)	rs121908119	0.00087
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)	rs121908121	0.00007
NM_020751.3(COG6):c.511C>T (p.Arg171Ter)	rs200177031	0.00004
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr)	rs372993798	0.00004
NM_001814.6(CTSC):c.815G>A (p.Arg272His)	rs587777534	0.00003
NM_025216.3(WNT10A):c.1084T>C (p.Cys362Arg)	rs1268725013	0.00002
NM_025216.3(WNT10A):c.311G>A (p.Arg104His)	rs374910216	0.00002
NM_025216.3(WNT10A):c.376+1G>A	rs561503117	0.00002
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter)	rs762739726	0.00002
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter)	rs886039453	0.00002
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)	rs104894415	0.00001
NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys)	rs104894211	0.00001
NM_001814.6(CTSC):c.1A>G (p.Met1Val)	rs886048742	0.00001
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg)	rs104894208	0.00001
NM_025216.3(WNT10A):c.1079G>T (p.Arg360Leu)	rs893127185	0.00001
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys)	rs318240759	0.00001
NM_025216.3(WNT10A):c.310C>T (p.Arg104Cys)	rs764658964	0.00001
NM_025216.3(WNT10A):c.627G>A (p.Trp209Ter)	rs1306584103	0.00001
NM_025216.3(WNT10A):c.632G>A (p.Trp211Ter)	rs1156948793	0.00001
NM_025216.3(WNT10A):c.661G>A (p.Gly221Arg)	rs775380022	0.00001
NM_025216.3(WNT10A):c.664G>T (p.Glu222Ter)	rs377416834	0.00001
NM_025216.3(WNT10A):c.910A>C (p.Asn304His)	rs1434390821	0.00001
NM_025216.3(WNT10A):c.932del (p.Glu311fs)	rs1559416138	0.00001
NC_000002.11:g.(?_219745708)_(219747155_?)del
NC_000002.11:g.(?_219745718)_(219757993_?)del
NC_000002.12:g.(?_218880976)_(218893291_?)del
NC_000011.9:g.(?_88045475)_(88071056_?)del
NC_000013.10:g.(?_20797176)_21105944del
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)	rs28937872
NM_001814.6(CTSC):c.-55C>A
NM_001814.6(CTSC):c.1015C>T (p.Arg339Cys)
NM_001814.6(CTSC):c.1047del (p.Gly350fs)
NM_001814.6(CTSC):c.1096del (p.His366fs)
NM_001814.6(CTSC):c.1122del (p.Phe374fs)
NM_001814.6(CTSC):c.1141del (p.Leu381fs)	rs772132996
NM_001814.6(CTSC):c.1149del (p.His382_Tyr383insTer)
NM_001814.6(CTSC):c.1202_1214del (p.Glu401fs)
NM_001814.6(CTSC):c.1246_1247del (p.Ala417fs)
NM_001814.6(CTSC):c.124del (p.Gln42fs)
NM_001814.6(CTSC):c.1286G>A (p.Trp429Ter)
NM_001814.6(CTSC):c.189del (p.Lys63_Val64insTer)
NM_001814.6(CTSC):c.189dup (p.Val64fs)
NM_001814.6(CTSC):c.201C>A (p.Tyr67Ter)
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg)	rs199474831
NM_001814.6(CTSC):c.21del (p.Leu7fs)
NM_001814.6(CTSC):c.268C>T (p.Gln90Ter)
NM_001814.6(CTSC):c.303G>A (p.Trp101Ter)
NM_001814.6(CTSC):c.319-1G>A
NM_001814.6(CTSC):c.328G>T (p.Glu110Ter)
NM_001814.6(CTSC):c.351C>G (p.Tyr117Ter)
NM_001814.6(CTSC):c.401G>A (p.Trp134Ter)
NM_001814.6(CTSC):c.407del (p.Cys136fs)
NM_001814.6(CTSC):c.415G>A (p.Gly139Arg)
NM_001814.6(CTSC):c.415G>C (p.Gly139Arg)
NM_001814.6(CTSC):c.415G>T (p.Gly139Ter)
NM_001814.6(CTSC):c.436del (p.Ser146fs)
NM_001814.6(CTSC):c.478C>T (p.Gln160Ter)
NM_001814.6(CTSC):c.509dup (p.Tyr170Ter)
NM_001814.6(CTSC):c.555G>A (p.Trp185Ter)
NM_001814.6(CTSC):c.555dup (p.Thr186fs)
NM_001814.6(CTSC):c.566_572del (p.Thr189fs)
NM_001814.6(CTSC):c.570C>G (p.Tyr190Ter)
NM_001814.6(CTSC):c.586_587del (p.Leu196fs)
NM_001814.6(CTSC):c.587T>C (p.Leu196Pro)
NM_001814.6(CTSC):c.606dup (p.Arg203Ter)
NM_001814.6(CTSC):c.628C>T (p.Arg210Ter)
NM_001814.6(CTSC):c.672dup (p.Gln225fs)
NM_001814.6(CTSC):c.706del (p.Asp236fs)
NM_001814.6(CTSC):c.725del (p.Gly242fs)
NM_001814.6(CTSC):c.748C>T (p.Arg250Ter)
NM_001814.6(CTSC):c.754C>T (p.Gln252Ter)
NM_001814.6(CTSC):c.783del (p.Phe261fs)
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro)	rs587777534
NM_001814.6(CTSC):c.856C>T (p.Gln286Ter)
NM_001814.6(CTSC):c.857del (p.Gln286fs)
NM_001814.6(CTSC):c.877C>T (p.Gln293Ter)
NM_001814.6(CTSC):c.889+1G>A
NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)
NM_001814.6(CTSC):c.90C>A (p.Cys30Ter)
NM_001814.6(CTSC):c.930C>G (p.Tyr310Ter)
NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)
NM_020751.3(COG6):c.252del (p.Ala85fs)	rs2137942150
NM_020751.3(COG6):c.651_654del (p.Leu217fs)
NM_025216.3(WNT10A):c.1018G>T (p.Glu340Ter)
NM_025216.3(WNT10A):c.1036del (p.Cys346fs)
NM_025216.3(WNT10A):c.1046del (p.Glu349fs)
NM_025216.3(WNT10A):c.1063del (p.Ala355fs)	rs2106018668
NM_025216.3(WNT10A):c.1070C>T (p.Thr357Ile)
NM_025216.3(WNT10A):c.1091dup (p.Ser365fs)	rs2106018717
NM_025216.3(WNT10A):c.1114T>G (p.Cys372Gly)	rs1487577386
NM_025216.3(WNT10A):c.1128C>A (p.Cys376Ter)	rs121908122
NM_025216.3(WNT10A):c.1165_1178delinsTTCCAGCACAACATC (p.Ser389fs)	rs1944678383
NM_025216.3(WNT10A):c.1168G>T (p.Glu390Ter)	rs750260671
NM_025216.3(WNT10A):c.152del (p.Pro51fs)
NM_025216.3(WNT10A):c.1A>G (p.Met1Val)
NM_025216.3(WNT10A):c.1A>T (p.Met1Leu)	rs1221516695
NM_025216.3(WNT10A):c.251dup (p.Ala85fs)
NM_025216.3(WNT10A):c.295del (p.Gln99fs)	rs2106011673
NM_025216.3(WNT10A):c.315G>A (p.Trp105Ter)	rs886055642
NM_025216.3(WNT10A):c.354T>A (p.Tyr118Ter)	rs2106011732
NM_025216.3(WNT10A):c.37C>T (p.Arg13Ter)
NM_025216.3(WNT10A):c.380del (p.Phe127fs)
NM_025216.3(WNT10A):c.381_382delinsTT (p.Arg128Ter)
NM_025216.3(WNT10A):c.386del (p.Glu129fs)
NM_025216.3(WNT10A):c.433G>A (p.Val145Met)	rs543063101
NM_025216.3(WNT10A):c.490C>T (p.Arg164Ter)	rs561173643
NM_025216.3(WNT10A):c.495_502dup (p.Glu168fs)	rs2106016170
NM_025216.3(WNT10A):c.532C>T (p.Gln178Ter)
NM_025216.3(WNT10A):c.532_536del (p.Gln178fs)	rs2106016227
NM_025216.3(WNT10A):c.547C>T (p.Gln183Ter)
NM_025216.3(WNT10A):c.55_56dup (p.Pro20fs)	rs2106010718
NM_025216.3(WNT10A):c.574del (p.Val192fs)
NM_025216.3(WNT10A):c.580del (p.Glu194fs)	rs2106016293
NM_025216.3(WNT10A):c.5_27del (p.Gly2fs)
NM_025216.3(WNT10A):c.648del (p.Asp217fs)	rs2106016375
NM_025216.3(WNT10A):c.673del (p.Ser225fs)
NM_025216.3(WNT10A):c.68G>A (p.Trp23Ter)
NM_025216.3(WNT10A):c.694del (p.Arg232fs)	rs1575233692
NM_025216.3(WNT10A):c.694dup (p.Arg232fs)
NM_025216.3(WNT10A):c.697G>T (p.Glu233Ter)	rs121908118
NM_025216.3(WNT10A):c.69G>A (p.Trp23Ter)
NM_025216.3(WNT10A):c.717del (p.His239fs)	rs1944636041
NM_025216.3(WNT10A):c.803C>G (p.Ser268Ter)	rs886039454
NM_025216.3(WNT10A):c.813C>A (p.Cys271Ter)
NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter)	rs773036759
NM_025216.3(WNT10A):c.830G>A (p.Trp277Ter)	rs1332945612
NM_025216.3(WNT10A):c.832C>T (p.Gln278Ter)	rs2106018205
NM_025216.3(WNT10A):c.844G>T (p.Glu282Ter)
NM_025216.3(WNT10A):c.847_851del (p.Phe283fs)	rs2106018239
NM_025216.3(WNT10A):c.85del (p.Leu29fs)	rs781237311
NM_025216.3(WNT10A):c.903_906del (p.Pro302fs)	rs1371718238
NM_025216.3(WNT10A):c.909_916del (p.His303fs)	rs1944671913
NM_025216.3(WNT10A):c.932dup (p.Pro312fs)	rs2106018397
NM_025216.3(WNT10A):c.949del (p.Ala317fs)	rs775990266
NM_025216.3(WNT10A):c.949dup (p.Ala317fs)	rs775990266
NM_025216.3(WNT10A):c.956C>A (p.Ser319Ter)
NM_025216.3(WNT10A):c.981_993dup (p.Ser332fs)
NM_025216.3(WNT10A):c.982_986dup (p.Arg330fs)
NM_025216.3(WNT10A):c.983_984del (p.Arg328fs)
NM_025216.3(WNT10A):c.990_1003dup (p.Asp335fs)	rs1203128182
NM_025216.3(WNT10A):c.993del (p.Ser332fs)	rs2106018559
NM_025216.3(WNT10A):c.99_105dup (p.Met36fs)

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