Total 45 pathogenic variants reported for Pachyonychia congenita 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000422.3(KRT17):c.274A>G (p.Asn92Asp) SNV
Germline		 Chr17:41624236 Pathogenic Pachyonychia congenita 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA216607 rs_28928896

3 SubmittersRCV000015688RCV000056510
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) SNV
Germline		 Chr17:41624235 Pathogenic Pachyonychia congenita 2
Condition: not provided
Abnormality of the skin
Pachyonychia congenita 2
Steatocystoma multiplex		 Criteria Provided
Multiple Submitters
No Conflicts
 CA216610 rs_59151893

8 SubmittersRCV000015689RCV000056512RCV001836709RCV002496373
NM_000422.3(KRT17):c.292T>G (p.Tyr98Asp) SNV
Germline		 Chr17:41624218 Pathogenic Pachyonychia congenita 2
Condition: not provided		 No Assertion Criteria Provided
 CA216620 rs_28933088

2 SubmittersRCV000015690RCV000056521
NM_000422.3(KRT17):c.281G>A (p.Arg94His) SNV
Germline		 Chr17:41624229 Pathogenic/Likely pathogenic Steatocystoma multiplex
Condition: not provided
Pachyonychia congenita 2
Steatocystoma multiplex
Pachyonychia congenita 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA124154 rs_28928897

6 SubmittersRCV000015692RCV000056515RCV000114414RCV002496374
NM_000422.3(KRT17):c.280C>T (p.Arg94Cys) SNV
Germline		 Chr17:41624230 Conflicting classifications of pathogenicity Steatocystoma multiplex
Condition: not provided
Pachyonychia congenita 2		 Criteria Provided
Conflicting Classifications
 CA124156 rs_58730926

7 SubmittersRCV000015694RCV000056513RCV000114415
NM_000422.3(KRT17):c.263T>C (p.Met88Thr) SNV
Germline		 Chr17:41624247 Pathogenic Pachyonychia congenita 2
Condition: not provided		 No Assertion Criteria Provided
 CA216606 rs_28928898

2 SubmittersRCV000015696RCV000056508
NM_000422.3(KRT17):c.281G>C (p.Arg94Pro) SNV
Germline		 Chr17:41624229 Pathogenic Pachyonychia congenita 2
Condition: not provided		 No Assertion Criteria Provided
 CA216613 rs_28928897

2 SubmittersRCV000015698RCV000056516
NM_000422.3(KRT17):c.284T>A (p.Leu95Gln) SNV
Germline		 Chr17:41624226 Pathogenic Pachyonychia congenita 2
Condition: not provided		 No Assertion Criteria Provided
 CA216614 rs_28928899

2 SubmittersRCV000015699RCV000056517
NM_000422.3(KRT17):c.284T>C (p.Leu95Pro) SNV
Germline		 Chr17:41624226 Pathogenic Pachyonychia congenita 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA216615 rs_28928899

3 SubmittersRCV000015700RCV000056518
NM_000422.3(KRT17):c.296T>C (p.Leu99Pro) SNV
Germline		 Chr17:41624214 Pathogenic Pachyonychia congenita 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA216623 rs_28933089

3 SubmittersRCV000015702RCV000056523
NM_000422.3(KRT17):c.304G>A (p.Val102Met) SNV
Germline		 Chr17:41624206 Pathogenic Pachyonychia congenita 2
Condition: not provided		 No Assertion Criteria Provided
 CA216624 rs_59977263

2 SubmittersRCV000015703RCV000056524
NM_005557.4(KRT16):c.395T>C (p.Leu132Pro) SNV
Germline		 Chr17:41612294 Pathogenic Pachyonychia congenita 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA217389 rs_60944949

3 SubmittersRCV000015704RCV000057042
NM_005557.4(KRT16):c.379C>T (p.Arg127Cys) SNV
Germline		 Chr17:41612310 Pathogenic Palmoplantar keratoderma, nonepidermolytic, focal 1
Condition: not provided
Pachyonychia congenita 1
Palmoplantar keratoderma, nonepidermolytic, focal 1
Pachyonychia congenita 1
KRT16-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA124157 rs_59856285

7 SubmittersRCV000015705RCV000057038RCV000578284RCV002496375RCV003415709
NM_005557.4(KRT16):c.374A>G (p.Asn125Ser) SNV
Germline		 Chr17:41612315 Pathogenic Palmoplantar keratoderma, nonepidermolytic, focal 1
Condition: not provided
Pachyonychia congenita 1
Palmoplantar keratoderma, nonepidermolytic, focal 1
Pachyonychia congenita 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA124158 rs_60723330

6 SubmittersRCV000015706RCV000057037RCV000144080RCV000763397
NM_005557.4(KRT16):c.380G>C (p.Arg127Pro) SNV
Germline		 Chr17:41612309 Pathogenic Pachyonychia congenita 1
Condition: not provided		 No Assertion Criteria Provided
 CA217385 rs_57424749

2 SubmittersRCV000015708RCV000057039
NM_005557.4(KRT16):c.365A>C (p.Gln122Pro) SNV
Germline		 Chr17:41612324 Pathogenic Pachyonychia congenita 1
Condition: not provided		 No Assertion Criteria Provided
 CA217378 rs_59349773

2 SubmittersRCV000015709RCV000057031
NM_005557.4(KRT16):c.371T>G (p.Leu124Arg) SNV
Germline		 Chr17:41612318 Pathogenic Pachyonychia congenita 1
Condition: not provided		 No Assertion Criteria Provided
 CA217381 rs_58293603

2 SubmittersRCV000015710RCV000057034
NM_005557.4(KRT16):c.1062A>T (p.Lys354Asn) SNV
Germline		 Chr17:41610549 Conflicting classifications of pathogenicity Pachyonychia congenita 1
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA217370 rs_59328451

6 SubmittersRCV000015711RCV000057025RCV004017253
NM_005557.4(KRT16):c.362T>C (p.Met121Thr) SNV
Germline		 Chr17:41612327 Pathogenic/Likely pathogenic Pachyonychia congenita 1
Condition: not provided
Palmoplantar keratoderma, nonepidermolytic, focal 1
Pachyonychia congenita 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217377 rs_28928894

4 SubmittersRCV000015712RCV000057030RCV002496376
NM_005557.4(KRT16):c.383T>A (p.Leu128Gln) SNV
Germline		 Chr17:41612306 Pathogenic Pachyonychia congenita 1
Condition: not provided		 No Assertion Criteria Provided
 CA217386 rs_28928895

2 SubmittersRCV000015713RCV000057040
NM_005555.4(KRT6B):c.1414G>A (p.Glu472Lys) SNV
Germline		 Chr12:52447788 Pathogenic Pachyonychia congenita 4
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA210845 rs_60627726

5 SubmittersRCV000015739RCV000057023
NM_005554.4(KRT6A):c.520T>G (p.Phe174Val) SNV
Germline		 Chr12:52492669 Pathogenic Pachyonychia congenita 3
Condition: not provided		 No Assertion Criteria Provided
 CA124168 rs_28933087

2 SubmittersRCV000015741RCV000057013
NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys) SNV
Germline		 Chr12:52488338 Pathogenic/Likely pathogenic Pachyonychia congenita 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA124169 rs_60554162

4 SubmittersRCV000015742RCV000056998
NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg) SNV
Germline		 Chr12:52488346 Pathogenic Pachyonychia congenita 3
Condition: not provided		 No Assertion Criteria Provided
 CA124170 rs_57052654

2 SubmittersRCV000015743RCV000056997
NM_005554.4(KRT6A):c.1406T>C (p.Leu469Pro) SNV
Germline		 Chr12:52488346 Pathogenic Condition: not provided
Pachyonychia congenita 3		 Criteria Provided
Single Submitter
 CA170745 rs_57052654

3 SubmittersRCV000056996RCV000144075
NM_005554.4(KRT6A):c.511A>G (p.Asn171Asp) SNV
Germline		 Chr12:52492678 Pathogenic Condition: not provided
Pachyonychia congenita 3		 Criteria Provided
Single Submitter
 CA217351 rs_62635294

3 SubmittersRCV000057007RCV000128818
NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser) SNV
Germline		 Chr12:52492677 Pathogenic Condition: not provided
Pachyonychia congenita 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217355 rs_58556099

5 SubmittersRCV000057010RCV000128820
NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys) SNV
Germline		 Chr12:52492676 Pathogenic Condition: not provided
Pachyonychia congenita 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217356 rs_59685571

5 SubmittersRCV000057011RCV000128821
NM_005554.4(KRT6A):c.521T>C (p.Phe174Ser) SNV
Germline		 Chr12:52492668 Pathogenic Condition: not provided
Pachyonychia congenita 3		 No Assertion Criteria Provided
 CA170746 rs_61145796

2 SubmittersRCV000057014RCV000144078
NM_005555.4(KRT6B):c.1381G>A (p.Glu461Lys) SNV
Germline		 Chr12:52447821 Pathogenic/Likely pathogenic Condition: not provided
Pachyonychia congenita 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217366 rs_267607473

3 SubmittersRCV000057022RCV002483085
NM_005557.4(KRT16):c.371T>A (p.Leu124His) SNV
Germline		 Chr17:41612318 Pathogenic/Likely pathogenic Condition: not provided
Pachyonychia congenita 1
Palmoplantar keratoderma, nonepidermolytic, focal 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217379 rs_58293603

3 SubmittersRCV000057032RCV002504957
NM_005557.4(KRT16):c.373A>G (p.Asn125Asp) SNV
Germline		 Chr17:41612316 Pathogenic Condition: not provided
Pachyonychia congenita 1		 Criteria Provided
Single Submitter
 CA217384 rs_58608173

3 SubmittersRCV000057036RCV000144081
NM_005554.4(KRT6A):c.1460-2A>C SNV
Germline		 Chr12:52487957 Pathogenic Pachyonychia congenita 3 No Assertion Criteria Provided
 CA170747 rs_113369052

1 SubmittersRCV000144079
NM_005557.4(KRT16):c.365A>G (p.Gln122Arg) SNV
Unknown		 Chr17:41612324 Likely pathogenic Pachyonychia congenita 1 Criteria Provided
Single Submitter
 CA277512 rs_59349773

1 SubmittersRCV000198279
NM_005557.4(KRT16):c.379C>G (p.Arg127Gly) SNV
Germline		 Chr17:41612310 Pathogenic/Likely pathogenic Condition: not provided
Palmoplantar keratoderma, nonepidermolytic, focal 1
Pachyonychia congenita 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588649 rs_59856285

3 SubmittersRCV000255715RCV002494798
NM_005557.4(KRT16):c.539C>T (p.Ala180Val) SNV
Germline		 Chr17:41611714 Conflicting classifications of pathogenicity Condition: not provided
Pachyonychia congenita 1
Palmoplantar keratoderma, epidermolytic		 Criteria Provided
Conflicting Classifications
 rs_142750223

2 SubmittersRCV000958416RCV000714558RCV000714559
NM_005557.4(KRT16):c.644C>G (p.Thr215Ser) SNV
Germline		 Chr17:41611472 Conflicting classifications of pathogenicity Condition: not provided
Pachyonychia congenita 1
KRT16-related disorder		 Criteria Provided
Conflicting Classifications
 rs_147423442

3 SubmittersRCV000974397RCV001334413RCV003936189
NM_005555.4(KRT6B):c.1406T>G (p.Leu469Arg) SNV
Germline		 Chr12:52447796 Pathogenic Pachyonychia congenita 4 No Assertion Criteria Provided
 rs_1592169234

1 SubmittersRCV001007639
NM_005554.4(KRT6A):c.1381G>T (p.Glu461Ter) SNV
Germline		 Chr12:52488371 Likely pathogenic Pachyonychia congenita 3 Criteria Provided
Single Submitter
 rs_267607468

2 SubmittersRCV001027734