Total 39 pathogenic variants reported for Borjeson-Forssman-Lehmann syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) SNV
Germline		 ChrX:134425256 Pathogenic Borjeson-Forssman-Lehmann syndrome
Condition: not provided
Intellectual disability		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121315 rs_132630297

7 SubmittersRCV000011812RCV002262562RCV005251034
NM_001015877.2(PHF6):c.296G>T (p.Cys99Phe) SNV
Germline		 ChrX:134393556 Pathogenic Borjeson-Forssman-Lehmann syndrome No Assertion Criteria Provided
 CA121318 rs_132630298

1 SubmittersRCV000011813
NM_001015877.2(PHF6):c.700A>G (p.Lys234Glu) SNV
Germline		 ChrX:134413937 Pathogenic Borjeson-Forssman-Lehmann syndrome No Assertion Criteria Provided
 CA121322 rs_104894917

1 SubmittersRCV000011814
NM_001015877.2(PHF6):c.134G>A (p.Cys45Tyr) SNV
Germline		 ChrX:134377751 Pathogenic Borjeson-Forssman-Lehmann syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121326 rs_132630299

3 SubmittersRCV000011815RCV004700218
NM_001015877.2(PHF6):c.686A>G (p.His229Arg) SNV
Germline		 ChrX:134413923 Pathogenic Borjeson-Forssman-Lehmann syndrome No Assertion Criteria Provided
 CA121330 rs_104894918

1 SubmittersRCV000011816
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr) SNV
Germline		 ChrX:134377619 Pathogenic Borjeson-Forssman-Lehmann syndrome
Hereditary spastic paraplegia 4
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121334 rs_132630300

7 SubmittersRCV000011817RCV002286694RCV002512974
NM_001015877.2(PHF6):c.769A>G (p.Arg257Gly) SNV
Germline		 ChrX:134415055 Pathogenic Borjeson-Forssman-Lehmann syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA121340 rs_104894919

2 SubmittersRCV000011818RCV004589505
NM_001015877.2(PHF6):c.22A>T (p.Lys8Ter) SNV
Germline		 ChrX:134377639 Pathogenic Borjeson-Forssman-Lehmann syndrome No Assertion Criteria Provided
 CA121344 rs_132630301

1 SubmittersRCV000011819
NM_001015877.2(PHF6):c.139-8A>G SNV
Germline		 ChrX:134377997 Pathogenic Borjeson-Forssman-Lehmann syndrome No Assertion Criteria Provided
 CA915952401 rs_771399346

1 SubmittersRCV000011820
NM_001015877.2(PHF6):c.729+4A>G SNV
Germline		 ChrX:134413970 Conflicting classifications of pathogenicity Condition: not provided
Borjeson-Forssman-Lehmann syndrome
Inborn genetic diseases
PHF6-related disorder		 Criteria Provided
Conflicting Classifications
 CA231374 rs_188961105

6 SubmittersRCV000117904RCV001087918RCV002312207RCV003975033
NM_001015877.2(PHF6):c.927C>T (p.Asp309=) SNV
Germline		 ChrX:134417261 Conflicting classifications of pathogenicity Condition: not provided
Borjeson-Forssman-Lehmann syndrome
Inborn genetic diseases
PHF6-related disorder		 Criteria Provided
Conflicting Classifications
 CA231375 rs_112199174

6 SubmittersRCV000117905RCV001080165RCV002312208RCV003982889
NM_001015877.2(PHF6):c.914G>T (p.Cys305Phe) SNV
Germline		 ChrX:134417248 Pathogenic Borjeson-Forssman-Lehmann syndrome No Assertion Criteria Provided
 CA163262 rs_587777489

1 SubmittersRCV000128447
NM_001015877.2(PHF6):c.688A>G (p.Ile230Val) SNV
Germline		 ChrX:134413925 Conflicting classifications of pathogenicity Condition: not provided
Borjeson-Forssman-Lehmann syndrome		 Criteria Provided
Conflicting Classifications
 CA247345 rs_794727879

3 SubmittersRCV000723755RCV001333333
NM_001015877.2(PHF6):c.414C>T (p.Ser138=) SNV
Germline		 ChrX:134393948 Conflicting classifications of pathogenicity Condition: not provided
not specified
Borjeson-Forssman-Lehmann syndrome
PHF6-related disorder		 Criteria Provided
Conflicting Classifications
 CA207051 rs_200423380

4 SubmittersRCV000726074RCV000193514RCV003512024RCV003937710
NM_001015877.2(PHF6):c.418G>A (p.Ala140Thr) SNV
Germline		 ChrX:134393952 Pathogenic Borjeson-Forssman-Lehmann syndrome Criteria Provided
Single Submitter
 CA339634 rs_864309532

1 SubmittersRCV000202613
NM_001015877.2(PHF6):c.255C>A (p.Cys85Ter) SNV
Germline		 ChrX:134393515 Pathogenic Borjeson-Forssman-Lehmann syndrome No Assertion Criteria Provided
 CA414711526 rs_1114167289

1 SubmittersRCV000491322
NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter) SNV
Germline		 ChrX:134413910 Pathogenic Condition: not provided
Borjeson-Forssman-Lehmann syndrome
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA414712967 rs_1556018932

3 SubmittersRCV003233750RCV000677243RCV002526933
NM_001015877.2(PHF6):c.820C>T (p.Arg274Ter) SNV
Germline		 ChrX:134415106 Pathogenic Inborn genetic diseases
Condition: not provided
See cases
Borjeson-Forssman-Lehmann syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA414713313 rs_1556019107

6 SubmittersRCV000624597RCV001092161RCV002252179RCV002531897
NM_001015877.2(PHF6):c.65C>A (p.Ser22Ter) SNV
Germline		 ChrX:134377682 Likely pathogenic Borjeson-Forssman-Lehmann syndrome Criteria Provided
Single Submitter
 CA414710724 rs_1569334260

1 SubmittersRCV000761327
NM_001015877.2(PHF6):c.585+1G>A SNV
Germline		 ChrX:134413658 Pathogenic Borjeson-Forssman-Lehmann syndrome Criteria Provided
Single Submitter
 CA414712748 rs_2077460481

1 SubmittersRCV001253361
NM_001015877.2(PHF6):c.802G>C (p.Val268Leu) SNV
Unknown		 ChrX:134415088 Likely pathogenic Borjeson-Forssman-Lehmann syndrome Criteria Provided
Single Submitter
 CA414713270 rs_2077467347

1 SubmittersRCV001262915
NM_001015877.2(PHF6):c.415G>T (p.Glu139Ter) SNV
Germline		 ChrX:134393949 Pathogenic Borjeson-Forssman-Lehmann syndrome Criteria Provided
Single Submitter
 CA414711997 rs_770811341

1 SubmittersRCV001775393
NM_001015877.2(PHF6):c.890G>T (p.Cys297Phe) SNV
Germline		 ChrX:134417224 Pathogenic Borjeson-Forssman-Lehmann syndrome No Assertion Criteria Provided
 CA414707783 rs_2520644434

1 SubmittersRCV002291089
NM_001015877.2(PHF6):c.407A>G (p.His136Arg) SNV
Germline		 ChrX:134393941 Conflicting classifications of pathogenicity Borjeson-Forssman-Lehmann syndrome
Inborn genetic diseases
PHF6-related disorder		 Criteria Provided
Conflicting Classifications
 CA10521212 rs_774353684

4 SubmittersRCV002611806RCV003358109RCV003918927
NM_001015877.2(PHF6):c.146C>T (p.Ser49Leu) SNV
Germline		 ChrX:134378012 Likely pathogenic Borjeson-Forssman-Lehmann syndrome No Assertion Criteria Provided
 CA414710931 rs_2520470317

1 SubmittersRCV003228888
NM_001015877.2(PHF6):c.743G>T (p.Gly248Val) SNV
Germline		 ChrX:134415029 Pathogenic Borjeson-Forssman-Lehmann syndrome No Assertion Criteria Provided
 CA414713137 rs_2077467203

1 SubmittersRCV003228889
NM_001015877.2(PHF6):c.346C>T (p.Arg116Ter) SNV
Germline		 ChrX:134393606 Pathogenic Borjeson-Forssman-Lehmann syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA414711739 rs_2520541219

4 SubmittersRCV003512707
NM_001015877.2(PHF6):c.385C>T (p.Arg129Ter) SNV
Germline		 ChrX:134393919 Pathogenic Borjeson-Forssman-Lehmann syndrome Criteria Provided
Single Submitter
 CA414711860 rs_2520543380

1 SubmittersRCV003622070
NM_001015877.2(PHF6):c.729+2T>C SNV
Germline		 ChrX:134413968 Likely pathogenic Borjeson-Forssman-Lehmann syndrome Criteria Provided
Single Submitter
 CA414713101 rs_758474623

1 SubmittersRCV003887833
NM_001015877.2(PHF6):c.139-2A>G SNV
Unknown		 ChrX:134378003 Likely pathogenic Borjeson-Forssman-Lehmann syndrome Criteria Provided
Single Submitter
 CA414710909 rs_2520470293

1 SubmittersRCV004018047
NM_001015877.2(PHF6):c.417A>T (p.Glu139Asp) SNV
Germline		 ChrX:134393951 Pathogenic Borjeson-Forssman-Lehmann syndrome Criteria Provided
Single Submitter
 rs_2520543764

1 SubmittersRCV004578013
NM_001015877.2(PHF6):c.958G>A (p.Gly320Arg) SNV
Germline		 ChrX:134417292 Likely pathogenic Borjeson-Forssman-Lehmann syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004799107
NM_001015877.2(PHF6):c.125A>G (p.His42Arg) SNV
Germline		 ChrX:134377742 Likely pathogenic Borjeson-Forssman-Lehmann syndrome No Assertion Criteria Provided

1 SubmittersRCV004813376
NM_001015877.2(PHF6):c.789T>G (p.Phe263Leu) SNV
Germline		 ChrX:134415075 Likely pathogenic Borjeson-Forssman-Lehmann syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005410986