Total 51 pathogenic variants reported for Netherton syndrome 
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.283-2A>T SNV
Germline		 Chr5:148086403 Pathogenic Netherton syndrome No Assertion Criteria Provided
 CA117363 rs_587777749

1 SubmittersRCV000005583
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.652C>T (p.Arg218Ter) SNV
Germline		 Chr5:148091214 Pathogenic Netherton syndrome
Susceptibility to nonsyndromic otitis media		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3495299 rs_199757347

3 SubmittersRCV000371796RCV001260962
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.882+2T>C SNV
Germline		 Chr5:148095907 Pathogenic Condition: not provided
Netherton syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042515 rs_1057518161

2 SubmittersRCV000413636RCV004798830
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.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.803G>A (p.Arg268His) SNV
Germline		 Chr5:148095826 Conflicting classifications of pathogenicity not specified
Netherton syndrome		 Criteria Provided
Conflicting Classifications
 CA3495373 rs_375727921

2 SubmittersRCV000429529RCV001051526
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.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.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.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.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.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.1093-4G>A SNV
Germline		 Chr5:148100450 Conflicting classifications of pathogenicity Netherton syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_754019195

2 SubmittersRCV001476005RCV004808963
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.1772T>C (p.Leu591Pro) SNV
Germline		 Chr5:148111847 Conflicting classifications of pathogenicity Netherton syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_775502935

2 SubmittersRCV001157374RCV004671231
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.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.410+1G>A SNV
Germline		 Chr5:148086533 Pathogenic Condition: not provided
Netherton syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_375224787

2 SubmittersRCV001658743RCV004796647
NM_006846.4(SPINK5):c.209+1G>A SNV
Germline		 Chr5:148070451 Likely pathogenic Netherton syndrome Criteria Provided
Single Submitter
 rs_1752708600

1 SubmittersRCV001783798
NM_006846.4(SPINK5):c.1732C>T (p.Arg578Ter) SNV
Germline		 Chr5:148111807 Pathogenic Netherton syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_201674667

2 SubmittersRCV001946939RCV002564381
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