Total 13 pathogenic variants reported for Acroerythrokeratoderma 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_020427.3(SLURP1):c.178+1G>A SNV
Germline		 Chr8:142741802 Pathogenic Acroerythrokeratoderma No Assertion Criteria Provided
 CA116947 rs_587776602

1 SubmittersRCV000004863
NM_020427.3(SLURP1):c.286C>T (p.Arg96Ter) SNV
Germline		 Chr8:142741169 Pathogenic Acroerythrokeratoderma Criteria Provided
Single Submitter
 CA116948 rs_121908317

2 SubmittersRCV000004864
NM_020427.3(SLURP1):c.256G>A (p.Gly86Arg) SNV
Germline		 Chr8:142741199 Pathogenic Acroerythrokeratoderma
Condition: not provided		 Criteria Provided
Single Submitter
 CA116950 rs_28937888

3 SubmittersRCV000004865RCV002292455
NM_020427.3(SLURP1):c.256G>C (p.Gly86Arg) SNV
Germline		 Chr8:142741199 Pathogenic Acroerythrokeratoderma No Assertion Criteria Provided
 CA116951 rs_28937888

1 SubmittersRCV000004866
NM_020427.3(SLURP1):c.1A>C (p.Met1Leu) SNV
Germline		 Chr8:142742385 Pathogenic Acroerythrokeratoderma No Assertion Criteria Provided
 CA116952 rs_28937889

1 SubmittersRCV000004867
NM_020427.3(SLURP1):c.43T>C (p.Trp15Arg) SNV
Germline		 Chr8:142742343 Pathogenic Acroerythrokeratoderma Criteria Provided
Single Submitter
 CA116954 rs_121908318

2 SubmittersRCV000004868
NM_020427.3(SLURP1):c.229T>C (p.Cys77Arg) SNV
Germline		 Chr8:142741226 Pathogenic Acroerythrokeratoderma No Assertion Criteria Provided
 CA116955 rs_121908319

1 SubmittersRCV000004869
NM_020427.3(SLURP1):c.296G>A (p.Cys99Tyr) SNV
Germline		 Chr8:142741159 Pathogenic Acroerythrokeratoderma No Assertion Criteria Provided
 CA116956 rs_121908320

1 SubmittersRCV000004870
NM_020427.3(SLURP1):c.-7C>T SNV
Germline		 Chr8:142742392 Conflicting classifications of pathogenicity Acroerythrokeratoderma
SLURP1-related disorder		 Criteria Provided
Conflicting Classifications
 CA4904131 rs_201610070

2 SubmittersRCV000363306RCV003957855
NM_020427.3(SLURP1):c.310T>C (p.Ter104Arg) SNV
Germline		 Chr8:142741145 Conflicting classifications of pathogenicity Condition: not provided
Acroerythrokeratoderma		 Criteria Provided
Conflicting Classifications
 CA4904029 rs_62636565

3 SubmittersRCV000598336RCV001164635
NM_020427.3(SLURP1):c.111C>A (p.Cys37Ter) SNV
Germline		 Chr8:142741870 Likely pathogenic Acroerythrokeratoderma Criteria Provided
Single Submitter

1 SubmittersRCV003159276
NM_020427.3(SLURP1):c.243C>A (p.Asp81Glu) SNV
Germline		 Chr8:142741212 Pathogenic Acroerythrokeratoderma No Assertion Criteria Provided

1 SubmittersRCV003448492