Total 20 pathogenic variants reported for Poikiloderma with neutropenia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_024598.4(USB1):c.504-2A>C SNV
Germline		 Chr16:58017332 Pathogenic Poikiloderma with neutropenia No Assertion Criteria Provided
 CA114042 rs_137853970

2 SubmittersRCV000000224
NM_024598.4(USB1):c.502A>G (p.Arg168Gly) SNV
Germline		 Chr16:58014325 Pathogenic Poikiloderma with neutropenia No Assertion Criteria Provided
 CA114044 rs_137853971

2 SubmittersRCV000000226
NM_024598.4(USB1):c.243G>A (p.Trp81Ter) SNV
Germline		 Chr16:58002623 Pathogenic Poikiloderma with neutropenia No Assertion Criteria Provided
 CA170841 rs_137853973

3 SubmittersRCV000144431
NM_024598.4(USB1):c.541C>T (p.Gln181Ter) SNV
Germline		 Chr16:58017371 Pathogenic Poikiloderma with neutropenia No Assertion Criteria Provided
 CA396129923 rs_1555498573

2 SubmittersRCV000599164
NM_024598.4(USB1):c.623A>G (p.His208Arg) SNV
Germline		 Chr16:58018985 Likely pathogenic Poikiloderma with neutropenia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA396130121 rs_1249059283

3 SubmittersRCV000599396RCV003326469
NM_024598.4(USB1):c.673C>T (p.Gln225Ter) SNV
Germline		 Chr16:58019035 Pathogenic Poikiloderma with neutropenia
Condition: not provided		 Criteria Provided
Single Submitter
 CA396130225 rs_1459714680

2 SubmittersRCV000598691RCV001853990
NM_024598.4(USB1):c.266-1G>A SNV
Germline		 Chr16:58009928 Pathogenic Poikiloderma with neutropenia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA396128940 rs_1555498092

4 SubmittersRCV000599282RCV001384478
NM_024598.4(USB1):c.415C>T (p.Gln139Ter) SNV
Germline		 Chr16:58010078 Pathogenic Poikiloderma with neutropenia
Condition: not provided		 Criteria Provided
Single Submitter
 CA396129268 rs_1555498129

2 SubmittersRCV000599306RCV003558450
NM_024598.4(USB1):c.518T>G (p.Leu173Arg) SNV
Germline		 Chr16:58017348 Conflicting classifications of pathogenicity Poikiloderma with neutropenia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA396129878 rs_1555498563

3 SubmittersRCV000598972RCV003321693
NM_024598.4(USB1):c.641G>A (p.Cys214Tyr) SNV
Germline		 Chr16:58019003 Conflicting classifications of pathogenicity Poikiloderma with neutropenia
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 rs_146685901

6 SubmittersRCV000768128RCV000970569RCV001816823
NM_024598.4(USB1):c.512T>C (p.Ile171Thr) SNV
Germline		 Chr16:58017342 Conflicting classifications of pathogenicity Condition: not provided
Poikiloderma with neutropenia		 Criteria Provided
Conflicting Classifications
 rs_149725439

3 SubmittersRCV000966295RCV001267806
NM_024598.4(USB1):c.370T>C (p.Ser124Pro) SNV
Germline		 Chr16:58010033 Likely pathogenic Poikiloderma with neutropenia No Assertion Criteria Provided
 rs_1597049287

1 SubmittersRCV000985173