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 SubmittersRCV000005582 RCV003318539 RCV003595852
NM_006846.4(SPINK5):c.1302+4A>T	SNV Germline	Chr5:148101440	Pathogenic	Condition: not provided Ichthyosis linearis circumflexa Netherton syndrome	Criteria Provided Multiple Submitters No Conflicts	CA3495537	rs_201269335	4 SubmittersRCV000344894 RCV003595905 RCV001063839
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 SubmittersRCV000333137 RCV003595933 RCV003950248
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 SubmittersRCV000287309 RCV003595935
NM_006846.4(SPINK5):c.1607+7G>T	SNV Germline	Chr5:148107171	Conflicting classifications of pathogenicity	Netherton syndrome SPINK5-related disorder Ichthyosis linearis circumflexa Condition: not provided	Criteria Provided Conflicting Classifications	CA3495667	rs_541432320	4 SubmittersRCV000290929 RCV003912498 RCV003595934 RCV005425941
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 SubmittersRCV000378386 RCV003761923
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 SubmittersRCV000262923 RCV003766027
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 SubmittersRCV000413920 RCV003761967
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 SubmittersRCV000414252 RCV000414954 RCV000766268 RCV003595955
NM_006846.4(SPINK5):c.2240+1G>A	SNV Germline	Chr5:148118565	Pathogenic	Condition: not provided Ichthyosis linearis circumflexa Netherton syndrome	Criteria Provided Multiple Submitters No Conflicts	CA3495901	rs_775341740	3 SubmittersRCV000413096 RCV003595956 RCV005033940
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	10 SubmittersRCV000415446 RCV000806530 RCV000788305 RCV003595957
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 SubmittersRCV000432710 RCV000634475 RCV003422414 RCV003762726
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 SubmittersRCV000434233 RCV003761982
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 SubmittersRCV000486022 RCV001084675 RCV003762745 RCV003915327
NM_006846.4(SPINK5):c.81+2T>A	SNV Germline	Chr5:148065374	Pathogenic	Netherton syndrome Condition: not provided Ichthyosis linearis circumflexa	Criteria Provided Multiple Submitters No Conflicts	CA361887508	rs_1131691490	3 SubmittersRCV000794069 RCV000493319 RCV003596007
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	5 SubmittersRCV000520665 RCV001380051 RCV003596010
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 SubmittersRCV000520207 RCV003596016
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 SubmittersRCV000519025 RCV000530328 RCV001260963 RCV003762759
NM_006846.4(SPINK5):c.3018T>A (p.Cys1006Ter)	SNV Germline	Chr5:148131312	Pathogenic/Likely pathogenic	Netherton syndrome Ichthyosis linearis circumflexa	Criteria Provided Multiple Submitters No Conflicts	CA3496223	rs_766978225	2 SubmittersRCV000539268 RCV003596033
NM_006846.4(SPINK5):c.649C>T (p.Arg217Ter)	SNV Germline	Chr5:148091211	Pathogenic	Condition: not provided Netherton syndrome Ichthyosis linearis circumflexa	Criteria Provided Multiple Submitters No Conflicts	CA3495297	rs_367958902	4 SubmittersRCV000627212 RCV005034201 RCV003596076
NM_006846.4(SPINK5):c.1530C>A (p.Cys510Ter)	SNV Germline	Chr5:148107087	Pathogenic	Condition: not provided Ichthyosis linearis circumflexa	Criteria Provided Multiple Submitters No Conflicts	CA361639184	rs_1554105045	2 SubmittersRCV000627354 RCV005056353
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 SubmittersRCV000634479 RCV003596091
NM_006846.4(SPINK5):c.2441+1G>A	SNV Germline	Chr5:148120137	Likely pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA361646520	rs_1561701382	1 SubmittersRCV003596517
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter)	SNV Germline	Chr5:148123851	Pathogenic	Netherton syndrome Ichthyosis linearis circumflexa	Criteria Provided Multiple Submitters No Conflicts	CA3496038	rs_753621591	5 SubmittersRCV000761521 RCV003596547
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	CA913189665	rs_1561685366	2 SubmittersRCV000768322 RCV003762873
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	CA361635902	rs_752777832	3 SubmittersRCV000800344 RCV001805867 RCV003596575
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	CA3496231	rs_571812048	2 SubmittersRCV000793052 RCV003596563
NM_006846.4(SPINK5):c.1888-1G>A	SNV Germline	Chr5:148114361	Pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA3495789	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	CA3495618	rs_190657753	7 SubmittersRCV000966291 RCV001574051 RCV003762925 RCV003905906
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	CA3495487	rs_180696183	3 SubmittersRCV000880072 RCV003432869 RCV003762910
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	CA3495250	rs_574656084	2 SubmittersRCV001155600 RCV003596660
NM_006846.4(SPINK5):c.1093-4G>A	SNV Germline	Chr5:148100450	Conflicting classifications of pathogenicity	Ichthyosis linearis circumflexa Condition: not provided	Criteria Provided Conflicting Classifications	CA3495480	rs_754019195	2 SubmittersRCV005208878 RCV004808963
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	CA3495720	rs_201674667	2 SubmittersRCV000978533 RCV003762930
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	CA128932486	rs_927214297	2 SubmittersRCV000998456 RCV003769368
NM_006846.4(SPINK5):c.1012C>T (p.Gln338Ter)	SNV Germline	Chr5:148099235	Pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA361635630	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	CA361641552	rs_1366194827	1 SubmittersRCV003763753
NM_006846.4(SPINK5):c.2423C>T (p.Thr808Ile)	SNV Germline	Chr5:148120118	Pathogenic/Likely pathogenic	Condition: not provided Ichthyosis linearis circumflexa	Criteria Provided Multiple Submitters No Conflicts	CA361646445	rs_1212676320	3 SubmittersRCV001585952 RCV003595676
NM_006846.4(SPINK5):c.2671C>T (p.Arg891Ter)	SNV Germline	Chr5:148124769	Pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA3496081	rs_749828824	1 SubmittersRCV003763771
NM_006846.4(SPINK5):c.81+5G>A	SNV Germline	Chr5:148065377	Pathogenic/Likely pathogenic	Ichthyosis linearis circumflexa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3495096	rs_771730802	2 SubmittersRCV003595661 RCV005235502
NM_006846.4(SPINK5):c.2666+5G>A	SNV Germline	Chr5:148123965	Conflicting classifications of pathogenicity	Netherton syndrome Ichthyosis linearis circumflexa	Criteria Provided Conflicting Classifications	CA3496053	rs_185897034	2 SubmittersRCV001042227 RCV005093316
NM_006846.4(SPINK5):c.2964+14T>G	SNV Germline	Chr5:148127093	Conflicting classifications of pathogenicity	Netherton syndrome Ichthyosis linearis circumflexa	Criteria Provided Conflicting Classifications	CA563525799	rs_1017737800	2 SubmittersRCV001157493 RCV005056954
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	CA128916087	rs_924297783	2 SubmittersRCV001229273 RCV003595718
NM_006846.4(SPINK5):c.2611C>T (p.Arg871Ter)	SNV Germline	Chr5:148123905	Pathogenic	Ichthyosis linearis circumflexa Netherton syndrome	Criteria Provided Multiple Submitters No Conflicts	CA361647846	rs_1340491788	2 SubmittersRCV003763906 RCV005036507
NM_006846.4(SPINK5):c.67A>T (p.Lys23Ter)	SNV Germline	Chr5:148065358	Pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA361887468	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	CA3495483	rs_777436361	3 SubmittersRCV001270889 RCV003595733
NM_006846.4(SPINK5):c.80A>G (p.Gln27Arg)	SNV Germline	Chr5:148065371	Conflicting classifications of pathogenicity	Netherton syndrome Ichthyosis linearis circumflexa	Criteria Provided Conflicting Classifications	CA3495094	rs_778915520	2 SubmittersRCV005040150 RCV003763944
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	CA361637559	rs_1309309448	2 SubmittersRCV001565257 RCV003761403
NM_006846.4(SPINK5):c.2989C>T (p.Arg997Ter)	SNV Germline	Chr5:148131283	Pathogenic/Likely pathogenic	Ichthyosis linearis circumflexa Netherton syndrome	Criteria Provided Multiple Submitters No Conflicts	CA3496215	rs_192473445	2 SubmittersRCV003762054 RCV005031901
NM_006846.4(SPINK5):c.1480-2A>G	SNV Germline	Chr5:148107035	Likely pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA3495638	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	CA361891087	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	CA3495928	rs_750789505	2 SubmittersRCV003597237 RCV004796674
NM_006846.4(SPINK5):c.2666+1G>A	SNV Germline	Chr5:148123961	Likely pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA361648149	rs_1754362343	1 SubmittersRCV003762117
NM_006846.4(SPINK5):c.2758C>T (p.Arg920Ter)	SNV Germline	Chr5:148125741	Pathogenic/Likely pathogenic	Netherton syndrome Ichthyosis linearis circumflexa	Criteria Provided Multiple Submitters No Conflicts	CA3496136	rs_776293648	2 SubmittersRCV005038364 RCV003597226
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	CA3495449	rs_776194091	2 SubmittersRCV003761537 RCV004673796
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	CA361888340	rs_1025545434	2 SubmittersRCV003368021 RCV003761578
NM_006846.4(SPINK5):c.2965-1G>A	SNV Germline	Chr5:148131258	Likely pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA3496212	rs_567566682	1 SubmittersRCV003596216
NM_006846.4(SPINK5):c.45C>A (p.Cys15Ter)	SNV Germline	Chr5:148064089	Pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA3495075	rs_770450773	1 SubmittersRCV003596124
NM_006846.4(SPINK5):c.1339G>T (p.Gly447Ter)	SNV Germline	Chr5:148101817	Pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA3495567	rs_765752936	1 SubmittersRCV003764137
NM_006846.4(SPINK5):c.211G>T (p.Glu71Ter)	SNV Germline	Chr5:148072149	Pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA361888756	rs_761010013	1 SubmittersRCV003596332
NM_006846.4(SPINK5):c.2098G>T (p.Gly700Ter)	SNV Germline	Chr5:148116452	Pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Multiple Submitters No Conflicts	CA3495854	rs_767816225	2 SubmittersRCV003596851
NM_006846.4(SPINK5):c.666+1G>T	SNV Germline	Chr5:148091229	Pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA361890962	rs_776976720	1 SubmittersRCV003762289
NM_006846.4(SPINK5):c.2113-2A>G	SNV Germline	Chr5:148118435	Likely pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA361644570	rs_2531782406	1 SubmittersRCV003762284
NM_006846.4(SPINK5):c.210-2A>C	SNV Germline	Chr5:148072146	Likely pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA361888740	rs_1219497521	1 SubmittersRCV003763290
NM_006846.4(SPINK5):c.2015+1G>T	SNV Germline	Chr5:148114490	Likely pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA361642746	rs_1754033945	1 SubmittersRCV003763524
NM_006846.4(SPINK5):c.3095+2T>C	SNV Germline	Chr5:148131391	Likely pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA361652283	rs_1754569068	1 SubmittersRCV003764343
NM_006846.4(SPINK5):c.602+1G>T	SNV Germline	Chr5:148089622	Likely pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA3495271	rs_769549131	1 SubmittersRCV003823546
NM_006846.4(SPINK5):c.2739+1G>T	SNV Germline	Chr5:148124838	Likely pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter	CA128940692	rs_766316221	1 SubmittersRCV003847298
NM_006846.4(SPINK5):c.666+1G>A	SNV Germline	Chr5:148091229	Pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter			1 SubmittersRCV005119670
NM_006846.4(SPINK5):c.684T>A (p.Tyr228Ter)	SNV Germline	Chr5:148094371	Pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter			1 SubmittersRCV005124725
NM_006846.4(SPINK5):c.1690C>T (p.Gln564Ter)	SNV Germline	Chr5:148108835	Pathogenic	Ichthyosis linearis circumflexa	Criteria Provided Single Submitter			1 SubmittersRCV005168691

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 SubmittersRCV000005582 RCV003318539 RCV003595852

NM_006846.4(SPINK5):c.1302+4A>T

SNV
Germline

Chr5:148101440

Pathogenic

Condition: not provided
Ichthyosis linearis circumflexa
Netherton syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3495537

rs_201269335

4 SubmittersRCV000344894 RCV003595905 RCV001063839

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 SubmittersRCV000333137 RCV003595933 RCV003950248

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 SubmittersRCV000287309 RCV003595935

NM_006846.4(SPINK5):c.1607+7G>T

SNV
Germline

Chr5:148107171

Conflicting classifications of pathogenicity

Netherton syndrome
SPINK5-related disorder
Ichthyosis linearis circumflexa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3495667

rs_541432320

4 SubmittersRCV000290929 RCV003912498 RCV003595934 RCV005425941

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 SubmittersRCV000378386 RCV003761923

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 SubmittersRCV000262923 RCV003766027

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 SubmittersRCV000413920 RCV003761967

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 SubmittersRCV000414252 RCV000414954 RCV000766268 RCV003595955

NM_006846.4(SPINK5):c.2240+1G>A

SNV
Germline

Chr5:148118565

Pathogenic

Condition: not provided
Ichthyosis linearis circumflexa
Netherton syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3495901

rs_775341740

3 SubmittersRCV000413096 RCV003595956 RCV005033940

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

10 SubmittersRCV000415446 RCV000806530 RCV000788305 RCV003595957

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 SubmittersRCV000432710 RCV000634475 RCV003422414 RCV003762726

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 SubmittersRCV000434233 RCV003761982

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 SubmittersRCV000486022 RCV001084675 RCV003762745 RCV003915327

NM_006846.4(SPINK5):c.81+2T>A

SNV
Germline

Chr5:148065374

Pathogenic

Netherton syndrome
Condition: not provided
Ichthyosis linearis circumflexa

Criteria Provided
Multiple Submitters
No Conflicts

CA361887508

rs_1131691490

3 SubmittersRCV000794069 RCV000493319 RCV003596007

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

5 SubmittersRCV000520665 RCV001380051 RCV003596010

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 SubmittersRCV000520207 RCV003596016

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 SubmittersRCV000519025 RCV000530328 RCV001260963 RCV003762759

NM_006846.4(SPINK5):c.3018T>A (p.Cys1006Ter)

SNV
Germline

Chr5:148131312

Pathogenic/Likely pathogenic

Netherton syndrome
Ichthyosis linearis circumflexa

Criteria Provided
Multiple Submitters
No Conflicts

CA3496223

rs_766978225

2 SubmittersRCV000539268 RCV003596033

NM_006846.4(SPINK5):c.649C>T (p.Arg217Ter)

SNV
Germline

Chr5:148091211

Pathogenic

Condition: not provided
Netherton syndrome
Ichthyosis linearis circumflexa

Criteria Provided
Multiple Submitters
No Conflicts

CA3495297

rs_367958902

4 SubmittersRCV000627212 RCV005034201 RCV003596076

NM_006846.4(SPINK5):c.1530C>A (p.Cys510Ter)

SNV
Germline

Chr5:148107087

Pathogenic

Condition: not provided
Ichthyosis linearis circumflexa

Criteria Provided
Multiple Submitters
No Conflicts

CA361639184

rs_1554105045

2 SubmittersRCV000627354 RCV005056353

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 SubmittersRCV000634479 RCV003596091

NM_006846.4(SPINK5):c.2441+1G>A

SNV
Germline

Chr5:148120137

Likely pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA361646520

rs_1561701382

1 SubmittersRCV003596517

NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter)

SNV
Germline

Chr5:148123851

Pathogenic

Netherton syndrome
Ichthyosis linearis circumflexa

Criteria Provided
Multiple Submitters
No Conflicts

CA3496038

rs_753621591

5 SubmittersRCV000761521 RCV003596547

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

CA913189665

rs_1561685366

2 SubmittersRCV000768322 RCV003762873

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

CA361635902

rs_752777832

3 SubmittersRCV000800344 RCV001805867 RCV003596575

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

CA3496231

rs_571812048

2 SubmittersRCV000793052 RCV003596563

NM_006846.4(SPINK5):c.1888-1G>A

SNV
Germline

Chr5:148114361

Pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA3495789

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

CA3495618

rs_190657753

7 SubmittersRCV000966291 RCV001574051 RCV003762925 RCV003905906

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

CA3495487

rs_180696183

3 SubmittersRCV000880072 RCV003432869 RCV003762910

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

CA3495250

rs_574656084

2 SubmittersRCV001155600 RCV003596660

NM_006846.4(SPINK5):c.1093-4G>A

SNV
Germline

Chr5:148100450

Conflicting classifications of pathogenicity

Ichthyosis linearis circumflexa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3495480

rs_754019195

2 SubmittersRCV005208878 RCV004808963

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

CA3495720

rs_201674667

2 SubmittersRCV000978533 RCV003762930

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

CA128932486

rs_927214297

2 SubmittersRCV000998456 RCV003769368

NM_006846.4(SPINK5):c.1012C>T (p.Gln338Ter)

SNV
Germline

Chr5:148099235

Pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA361635630

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

CA361641552

rs_1366194827

1 SubmittersRCV003763753

NM_006846.4(SPINK5):c.2423C>T (p.Thr808Ile)

SNV
Germline

Chr5:148120118

Pathogenic/Likely pathogenic

Condition: not provided
Ichthyosis linearis circumflexa

Criteria Provided
Multiple Submitters
No Conflicts

CA361646445

rs_1212676320

3 SubmittersRCV001585952 RCV003595676

NM_006846.4(SPINK5):c.2671C>T (p.Arg891Ter)

SNV
Germline

Chr5:148124769

Pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA3496081

rs_749828824

1 SubmittersRCV003763771

NM_006846.4(SPINK5):c.81+5G>A

SNV
Germline

Chr5:148065377

Pathogenic/Likely pathogenic

Ichthyosis linearis circumflexa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3495096

rs_771730802

2 SubmittersRCV003595661 RCV005235502

NM_006846.4(SPINK5):c.2666+5G>A

SNV
Germline

Chr5:148123965

Conflicting classifications of pathogenicity

Netherton syndrome
Ichthyosis linearis circumflexa

Criteria Provided
Conflicting Classifications

CA3496053

rs_185897034

2 SubmittersRCV001042227 RCV005093316

NM_006846.4(SPINK5):c.2964+14T>G

SNV
Germline

Chr5:148127093

Conflicting classifications of pathogenicity

Netherton syndrome
Ichthyosis linearis circumflexa

Criteria Provided
Conflicting Classifications

CA563525799

rs_1017737800

2 SubmittersRCV001157493 RCV005056954

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

CA128916087

rs_924297783

2 SubmittersRCV001229273 RCV003595718

NM_006846.4(SPINK5):c.2611C>T (p.Arg871Ter)

SNV
Germline

Chr5:148123905

Pathogenic

Ichthyosis linearis circumflexa
Netherton syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA361647846

rs_1340491788

2 SubmittersRCV003763906 RCV005036507

NM_006846.4(SPINK5):c.67A>T (p.Lys23Ter)

SNV
Germline

Chr5:148065358

Pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA361887468

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

CA3495483

rs_777436361

3 SubmittersRCV001270889 RCV003595733

NM_006846.4(SPINK5):c.80A>G (p.Gln27Arg)

SNV
Germline

Chr5:148065371

Conflicting classifications of pathogenicity

Netherton syndrome
Ichthyosis linearis circumflexa

Criteria Provided
Conflicting Classifications

CA3495094

rs_778915520

2 SubmittersRCV005040150 RCV003763944

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

CA361637559

rs_1309309448

2 SubmittersRCV001565257 RCV003761403

NM_006846.4(SPINK5):c.2989C>T (p.Arg997Ter)

SNV
Germline

Chr5:148131283

Pathogenic/Likely pathogenic

Ichthyosis linearis circumflexa
Netherton syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3496215

rs_192473445

2 SubmittersRCV003762054 RCV005031901

NM_006846.4(SPINK5):c.1480-2A>G

SNV
Germline

Chr5:148107035

Likely pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA3495638

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

CA361891087

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

CA3495928

rs_750789505

2 SubmittersRCV003597237 RCV004796674

NM_006846.4(SPINK5):c.2666+1G>A

SNV
Germline

Chr5:148123961

Likely pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA361648149

rs_1754362343

1 SubmittersRCV003762117

NM_006846.4(SPINK5):c.2758C>T (p.Arg920Ter)

SNV
Germline

Chr5:148125741

Pathogenic/Likely pathogenic

Netherton syndrome
Ichthyosis linearis circumflexa

Criteria Provided
Multiple Submitters
No Conflicts

CA3496136

rs_776293648

2 SubmittersRCV005038364 RCV003597226

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

CA3495449

rs_776194091

2 SubmittersRCV003761537 RCV004673796

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

CA361888340

rs_1025545434

2 SubmittersRCV003368021 RCV003761578

NM_006846.4(SPINK5):c.2965-1G>A

SNV
Germline

Chr5:148131258

Likely pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA3496212

rs_567566682

1 SubmittersRCV003596216

NM_006846.4(SPINK5):c.45C>A (p.Cys15Ter)

SNV
Germline

Chr5:148064089

Pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA3495075

rs_770450773

1 SubmittersRCV003596124

NM_006846.4(SPINK5):c.1339G>T (p.Gly447Ter)

SNV
Germline

Chr5:148101817

Pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA3495567

rs_765752936

1 SubmittersRCV003764137

NM_006846.4(SPINK5):c.211G>T (p.Glu71Ter)

SNV
Germline

Chr5:148072149

Pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA361888756

rs_761010013

1 SubmittersRCV003596332

NM_006846.4(SPINK5):c.2098G>T (p.Gly700Ter)

SNV
Germline

Chr5:148116452

Pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Multiple Submitters
No Conflicts

CA3495854

rs_767816225

2 SubmittersRCV003596851

NM_006846.4(SPINK5):c.666+1G>T

SNV
Germline

Chr5:148091229

Pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA361890962

rs_776976720

1 SubmittersRCV003762289

NM_006846.4(SPINK5):c.2113-2A>G

SNV
Germline

Chr5:148118435

Likely pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA361644570

rs_2531782406

1 SubmittersRCV003762284

NM_006846.4(SPINK5):c.210-2A>C

SNV
Germline

Chr5:148072146

Likely pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA361888740

rs_1219497521

1 SubmittersRCV003763290

NM_006846.4(SPINK5):c.2015+1G>T

SNV
Germline

Chr5:148114490

Likely pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA361642746

rs_1754033945

1 SubmittersRCV003763524

NM_006846.4(SPINK5):c.3095+2T>C

SNV
Germline

Chr5:148131391

Likely pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA361652283

rs_1754569068

1 SubmittersRCV003764343

NM_006846.4(SPINK5):c.602+1G>T

SNV
Germline

Chr5:148089622

Likely pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA3495271

rs_769549131

1 SubmittersRCV003823546

NM_006846.4(SPINK5):c.2739+1G>T

SNV
Germline

Chr5:148124838

Likely pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

CA128940692

rs_766316221

1 SubmittersRCV003847298

NM_006846.4(SPINK5):c.666+1G>A

SNV
Germline

Chr5:148091229

Pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

1 SubmittersRCV005119670

NM_006846.4(SPINK5):c.684T>A (p.Tyr228Ter)

SNV
Germline

Chr5:148094371

Pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

1 SubmittersRCV005124725

NM_006846.4(SPINK5):c.1690C>T (p.Gln564Ter)

SNV
Germline

Chr5:148108835

Pathogenic

Ichthyosis linearis circumflexa

Criteria Provided
Single Submitter

1 SubmittersRCV005168691