Total 92 pathogenic variants reported for Ichthyosis linearis circumflexa 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_006846.4(SPINK5):c.2368C>T (p.Arg790Ter) SNV
Germline		 Chr5:148120063 Pathogenic Netherton syndrome
Condition: not provided
Ichthyosis linearis circumflexa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117360 rs_121908387

3 SubmittersRCV000005582RCV003318539RCV003595852
NM_006846.4(SPINK5):c.1302+4A>T SNV
Germline		 Chr5:148101440 Pathogenic Condition: not provided
Netherton syndrome
Ichthyosis linearis circumflexa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3495537 rs_201269335

4 SubmittersRCV000344894RCV001063839RCV003595905
NM_006846.4(SPINK5):c.1431-10T>G SNV
Germline		 Chr5:148104942 Conflicting classifications of pathogenicity Netherton syndrome
Ichthyosis linearis circumflexa
SPINK5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3495612 rs_759079847

3 SubmittersRCV000333137RCV003595933RCV003950248
NM_006846.4(SPINK5):c.1820+11G>A SNV
Germline		 Chr5:148111906 Conflicting classifications of pathogenicity Netherton syndrome
Ichthyosis linearis circumflexa		 Criteria Provided
Conflicting Classifications
 CA10619337 rs_796478719

2 SubmittersRCV000287309RCV003595935
NM_006846.4(SPINK5):c.1607+7G>T SNV
Germline		 Chr5:148107171 Conflicting classifications of pathogenicity Netherton syndrome
Ichthyosis linearis circumflexa
SPINK5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3495667 rs_541432320

3 SubmittersRCV000290929RCV003595934RCV003912498
NM_006846.4(SPINK5):c.2736A>G (p.Ala912=) SNV
Germline		 Chr5:148124834 Conflicting classifications of pathogenicity Netherton syndrome
Ichthyosis linearis circumflexa		 Criteria Provided
Conflicting Classifications
 CA3496089 rs_773053071

2 SubmittersRCV000378386RCV003761923
NM_006846.4(SPINK5):c.1194C>T (p.Asn398=) SNV
Germline		 Chr5:148100555 Conflicting classifications of pathogenicity Netherton syndrome
Ichthyosis linearis circumflexa		 Criteria Provided
Conflicting Classifications
 CA3495499 rs_750608792

2 SubmittersRCV000262923RCV003766027
NM_006846.4(SPINK5):c.2740-1G>C SNV
Germline		 Chr5:148125722 Likely pathogenic Condition: not provided
Ichthyosis linearis circumflexa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042508 rs_1057518067

2 SubmittersRCV000413920RCV003761967
NM_006846.4(SPINK5):c.1431-12G>A SNV
Germline		 Chr5:148104940 Pathogenic/Likely pathogenic Condition: not provided
Increased circulating IgE concentration
Erythroderma
Netherton syndrome
Ichthyosis linearis circumflexa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3495609 rs_368134354

8 SubmittersRCV000414252RCV000414954RCV000766268RCV003595955
NM_006846.4(SPINK5):c.2240+1G>A SNV
Germline		 Chr5:148118565 Pathogenic Condition: not provided
Ichthyosis linearis circumflexa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3495901 rs_775341740

2 SubmittersRCV000413096RCV003595956
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) SNV
Germline		 Chr5:148097875 Pathogenic/Likely pathogenic Increased circulating IgE concentration
Erythroderma
Netherton syndrome
Condition: not provided
Ichthyosis linearis circumflexa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3495406 rs_752941297

9 SubmittersRCV000415446RCV000806530RCV000788305RCV003595957
NM_006846.4(SPINK5):c.2124T>C (p.Ala708=) SNV
Germline		 Chr5:148118448 Conflicting classifications of pathogenicity not specified
Netherton syndrome
Condition: not provided
Ichthyosis linearis circumflexa		 Criteria Provided
Conflicting Classifications
 CA3495874 rs_200884153

4 SubmittersRCV000432710RCV000634475RCV003422414RCV003762726
NM_006846.4(SPINK5):c.2622T>A (p.Tyr874Ter) SNV
Germline		 Chr5:148123916 Pathogenic Condition: not provided
Ichthyosis linearis circumflexa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16604889 rs_1057520643

2 SubmittersRCV000434233RCV003761982
NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp) SNV
Germline		 Chr5:148114438 Conflicting classifications of pathogenicity Condition: not provided
Netherton syndrome
Ichthyosis linearis circumflexa
SPINK5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3495808 rs_142227576

6 SubmittersRCV000486022RCV001084675RCV003762745RCV003915327
NM_006846.4(SPINK5):c.81+2T>A SNV
Germline		 Chr5:148065374 Pathogenic Condition: not provided
Netherton syndrome
Ichthyosis linearis circumflexa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA361887508 rs_1131691490

3 SubmittersRCV000493319RCV000794069RCV003596007
NM_006846.4(SPINK5):c.1048C>T (p.Arg350Ter) SNV
Germline		 Chr5:148099271 Pathogenic Condition: not provided
Netherton syndrome
Ichthyosis linearis circumflexa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA361635759 rs_373463881

4 SubmittersRCV000520665RCV001380051RCV003596010
NM_006846.4(SPINK5):c.1480-10C>A SNV
Germline		 Chr5:148107027 Conflicting classifications of pathogenicity Condition: not provided
Ichthyosis linearis circumflexa		 Criteria Provided
Conflicting Classifications
 CA3495636 rs_375718943

2 SubmittersRCV000520207RCV003596016
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) SNV
Germline		 Chr5:148118988 Conflicting classifications of pathogenicity Condition: not provided
Netherton syndrome
Susceptibility to nonsyndromic otitis media
Ichthyosis linearis circumflexa		 Criteria Provided
Conflicting Classifications
 CA3495925 rs_181639116

10 SubmittersRCV000519025RCV000530328RCV001260963RCV003762759
NM_006846.4(SPINK5):c.3018T>A (p.Cys1006Ter) SNV
Germline		 Chr5:148131312 Conflicting classifications of pathogenicity Netherton syndrome
Ichthyosis linearis circumflexa		 Criteria Provided
Conflicting Classifications
 CA3496223 rs_766978225

2 SubmittersRCV000539268RCV003596033
NM_006846.4(SPINK5):c.649C>T (p.Arg217Ter) SNV
Germline		 Chr5:148091211 Pathogenic Condition: not provided
Ichthyosis linearis circumflexa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3495297 rs_367958902

2 SubmittersRCV000627212RCV003596076
NM_006846.4(SPINK5):c.750C>T (p.Asp250=) SNV
Germline		 Chr5:148094437 Conflicting classifications of pathogenicity Netherton syndrome
Ichthyosis linearis circumflexa		 Criteria Provided
Conflicting Classifications
 CA3495334 rs_199793551

2 SubmittersRCV000634479RCV003596091
NM_006846.4(SPINK5):c.2441+1G>A SNV
Germline		 Chr5:148120137 Likely pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter
 rs_1561701382

1 SubmittersRCV003596517
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) SNV
Germline		 Chr5:148123851 Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa
Netherton syndrome		 Criteria Provided
Conflicting Classifications
 rs_753621591

5 SubmittersRCV003596547RCV000761521
NM_006846.4(SPINK5):c.795-11A>G SNV
Germline		 Chr5:148095807 Conflicting classifications of pathogenicity Netherton syndrome
Ichthyosis linearis circumflexa		 Criteria Provided
Conflicting Classifications
 rs_1561685366

2 SubmittersRCV000768322RCV003762873
NM_006846.4(SPINK5):c.1089T>G (p.Tyr363Ter) SNV
Germline		 Chr5:148099312 Pathogenic Netherton syndrome
Condition: not provided
Ichthyosis linearis circumflexa		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_752777832

3 SubmittersRCV000800344RCV001805867RCV003596575
NM_006846.4(SPINK5):c.3075C>T (p.Cys1025=) SNV
Germline		 Chr5:148131369 Conflicting classifications of pathogenicity Netherton syndrome
Ichthyosis linearis circumflexa		 Criteria Provided
Conflicting Classifications
 rs_571812048

2 SubmittersRCV000793052RCV003596563
NM_006846.4(SPINK5):c.1888-1G>A SNV
Germline		 Chr5:148114361 Pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter
 rs_759255682

1 SubmittersRCV003596599
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys) SNV
Germline		 Chr5:148104972 Conflicting classifications of pathogenicity Netherton syndrome
Condition: not provided
Ichthyosis linearis circumflexa
SPINK5-related disorder		 Criteria Provided
Conflicting Classifications
 rs_190657753

7 SubmittersRCV000966291RCV001574051RCV003762925RCV003905906
NM_006846.4(SPINK5):c.1132A>C (p.Lys378Gln) SNV
Germline		 Chr5:148100493 Conflicting classifications of pathogenicity Netherton syndrome
Condition: not provided
Ichthyosis linearis circumflexa		 Criteria Provided
Conflicting Classifications
 rs_180696183

3 SubmittersRCV000880072RCV003432869RCV003762910
NM_006846.4(SPINK5):c.489T>A (p.Ala163=) SNV
Germline		 Chr5:148089508 Conflicting classifications of pathogenicity Netherton syndrome
Ichthyosis linearis circumflexa		 Criteria Provided
Conflicting Classifications
 rs_574656084

2 SubmittersRCV001155600RCV003596660
NM_006846.4(SPINK5):c.1732C>A (p.Arg578=) SNV
Germline		 Chr5:148111807 Conflicting classifications of pathogenicity Netherton syndrome
Ichthyosis linearis circumflexa		 Criteria Provided
Conflicting Classifications
 rs_201674667

2 SubmittersRCV000978533RCV003762930
NM_006846.4(SPINK5):c.1941A>G (p.Thr647=) SNV
Germline		 Chr5:148114415 Conflicting classifications of pathogenicity Condition: not provided
Ichthyosis linearis circumflexa		 Criteria Provided
Conflicting Classifications
 rs_927214297

2 SubmittersRCV000998456RCV003769368
NM_006846.4(SPINK5):c.1012C>T (p.Gln338Ter) SNV
Germline		 Chr5:148099235 Pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter
 rs_1394583450

1 SubmittersRCV003762969
NM_006846.4(SPINK5):c.1825C>T (p.Gln609Ter) SNV
Germline		 Chr5:148112872 Pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter
 rs_1366194827

1 SubmittersRCV003763753
NM_006846.4(SPINK5):c.2423C>T (p.Thr808Ile) SNV
Germline		 Chr5:148120118 Likely pathogenic Ichthyosis linearis circumflexa
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1212676320

2 SubmittersRCV003595676RCV001585952
NM_006846.4(SPINK5):c.2671C>T (p.Arg891Ter) SNV
Germline		 Chr5:148124769 Pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter
 rs_749828824

1 SubmittersRCV003763771
NM_006846.4(SPINK5):c.81+5G>A SNV
Germline		 Chr5:148065377 Likely pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter
 rs_771730802

1 SubmittersRCV003595661
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter) SNV
Germline		 Chr5:148097984 Pathogenic Netherton syndrome
Ichthyosis linearis circumflexa		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_924297783

2 SubmittersRCV001229273RCV003595718
NM_006846.4(SPINK5):c.2611C>T (p.Arg871Ter) SNV
Germline		 Chr5:148123905 Pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter
 rs_1340491788

1 SubmittersRCV003763906
NM_006846.4(SPINK5):c.67A>T (p.Lys23Ter) SNV
Germline		 Chr5:148065358 Pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter
 rs_1482249008

1 SubmittersRCV003763924
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter) SNV
Germline		 Chr5:148100472 Pathogenic Netherton syndrome
Ichthyosis linearis circumflexa		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_777436361

3 SubmittersRCV001270889RCV003595733
NM_006846.4(SPINK5):c.1430+1G>T SNV
Germline		 Chr5:148101909 Pathogenic/Likely pathogenic Condition: not provided
Ichthyosis linearis circumflexa		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1309309448

2 SubmittersRCV001565257RCV003761403
NM_006846.4(SPINK5):c.2989C>T (p.Arg997Ter) SNV
Germline		 Chr5:148131283 Pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter
 rs_192473445

1 SubmittersRCV003762054
NM_006846.4(SPINK5):c.1480-2A>G SNV
Germline		 Chr5:148107035 Likely pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter
 rs_773865874

1 SubmittersRCV003773286
NM_006846.4(SPINK5):c.679G>T (p.Glu227Ter) SNV
Germline		 Chr5:148094366 Pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter
 rs_1480221716

1 SubmittersRCV003762055
NM_006846.4(SPINK5):c.2260A>T (p.Lys754Ter) SNV
Germline		 Chr5:148119005 Pathogenic Ichthyosis linearis circumflexa
Netherton syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_750789505

2 SubmittersRCV003597237RCV004796674
NM_006846.4(SPINK5):c.2666+1G>A SNV
Germline		 Chr5:148123961 Likely pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter
 rs_1754362343

1 SubmittersRCV003762117
NM_006846.4(SPINK5):c.2758C>T (p.Arg920Ter) SNV
Germline		 Chr5:148125741 Pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter
 rs_776293648

1 SubmittersRCV003597226
NM_006846.4(SPINK5):c.1049G>A (p.Arg350Gln) SNV
Germline		 Chr5:148099272 Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003761537RCV004673796
NM_006846.4(SPINK5):c.133C>T (p.Pro45Ser) SNV
Germline		 Chr5:148070374 Conflicting classifications of pathogenicity Inborn genetic diseases
Ichthyosis linearis circumflexa		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003368021RCV003761578
NM_006846.4(SPINK5):c.2965-1G>A SNV
Germline		 Chr5:148131258 Likely pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter

1 SubmittersRCV003596216
NM_006846.4(SPINK5):c.45C>A (p.Cys15Ter) SNV
Germline		 Chr5:148064089 Pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter

1 SubmittersRCV003596124
NM_006846.4(SPINK5):c.1339G>T (p.Gly447Ter) SNV
Germline		 Chr5:148101817 Pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter

1 SubmittersRCV003764137
NM_006846.4(SPINK5):c.211G>T (p.Glu71Ter) SNV
Germline		 Chr5:148072149 Pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter

1 SubmittersRCV003596332
NM_006846.4(SPINK5):c.2098G>T (p.Gly700Ter) SNV
Germline		 Chr5:148116452 Pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter

1 SubmittersRCV003596851
NM_006846.4(SPINK5):c.666+1G>T SNV
Germline		 Chr5:148091229 Pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter

1 SubmittersRCV003762289
NM_006846.4(SPINK5):c.2113-2A>G SNV
Germline		 Chr5:148118435 Likely pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter

1 SubmittersRCV003762284
NM_006846.4(SPINK5):c.210-2A>C SNV
Germline		 Chr5:148072146 Likely pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter

1 SubmittersRCV003763290
NM_006846.4(SPINK5):c.2015+1G>T SNV
Germline		 Chr5:148114490 Likely pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter

1 SubmittersRCV003763524
NM_006846.4(SPINK5):c.3095+2T>C SNV
Germline		 Chr5:148131391 Likely pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter

1 SubmittersRCV003764343
NM_006846.4(SPINK5):c.602+1G>T SNV
Germline		 Chr5:148089622 Likely pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter

1 SubmittersRCV003823546
NM_006846.4(SPINK5):c.2739+1G>T SNV
Germline		 Chr5:148124838 Likely pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter

1 SubmittersRCV003847298