Total 30 pathogenic variants reported for Atrophia bulborum hereditaria 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000266.4(NDP):c.224C>G (p.Ser75Cys) SNV
Germline		 ChrX:43949977 Likely pathogenic Atrophia bulborum hereditaria
Exudative vitreoretinopathy 2, X-linked		 Criteria Provided
Single Submitter
 CA255467 rs_104894868

2 SubmittersRCV000011426RCV003313916
NM_000266.4(NDP):c.179T>A (p.Val60Glu) SNV
Germline		 ChrX:43950022 Pathogenic Atrophia bulborum hereditaria No Assertion Criteria Provided
 CA255468 rs_104894869

1 SubmittersRCV000011427
NM_000266.4(NDP):c.131A>G (p.Tyr44Cys) SNV
Germline		 ChrX:43958515 Likely pathogenic Atrophia bulborum hereditaria
Condition: not provided		 Criteria Provided
Single Submitter
 CA255469 rs_104894870

2 SubmittersRCV000011428RCV001857330
NM_000266.4(NDP):c.287G>A (p.Cys96Tyr) SNV
Germline		 ChrX:43949914 Pathogenic Atrophia bulborum hereditaria No Assertion Criteria Provided
 CA255470 rs_104894871

1 SubmittersRCV000011429
NM_000266.4(NDP):c.206G>C (p.Cys69Ser) SNV
Germline		 ChrX:43949995 Pathogenic Atrophia bulborum hereditaria No Assertion Criteria Provided
 CA255472 rs_104894872

1 SubmittersRCV000011431
NM_000266.4(NDP):c.384C>A (p.Cys128Ter) SNV
Germline		 ChrX:43949817 Pathogenic Atrophia bulborum hereditaria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255473 rs_104894873

5 SubmittersRCV000011432RCV000418772
NM_000266.4(NDP):c.1A>G (p.Met1Val) SNV
Germline		 ChrX:43958645 Pathogenic Atrophia bulborum hereditaria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255475 rs_28933685

3 SubmittersRCV000011433RCV001857331
NM_000266.4(NDP):c.361C>T (p.Arg121Trp) SNV
Germline		 ChrX:43949840 Pathogenic/Likely pathogenic Exudative vitreoretinopathy 2, X-linked
Condition: not provided
Atrophia bulborum hereditaria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255477 rs_104894878

4 SubmittersRCV000011434RCV000484893RCV003334376
NM_000266.4(NDP):c.38T>G (p.Leu13Arg) SNV
Germline		 ChrX:43958608 Pathogenic Atrophia bulborum hereditaria No Assertion Criteria Provided
 CA255478 rs_104894879

1 SubmittersRCV000011435
NM_000266.4(NDP):c.181C>T (p.Leu61Phe) SNV
Germline		 ChrX:43950020 Pathogenic Atrophia bulborum hereditaria No Assertion Criteria Provided
 CA255479 rs_104894880

1 SubmittersRCV000011436
NM_000266.4(NDP):c.313G>A (p.Ala105Thr) SNV
Germline		 ChrX:43949888 Pathogenic Atrophia bulborum hereditaria No Assertion Criteria Provided
 CA255480 rs_104894875

1 SubmittersRCV000011439
NM_000266.4(NDP):c.288C>G (p.Cys96Trp) SNV
Unknown		 ChrX:43949913 Pathogenic Atrophia bulborum hereditaria No Assertion Criteria Provided
 CA255483 rs_104894877

1 SubmittersRCV000011442
NM_000266.4(NDP):c.134T>A (p.Val45Glu) SNV
Germline		 ChrX:43958512 Pathogenic Atrophia bulborum hereditaria No Assertion Criteria Provided
 CA255484 rs_137852221

1 SubmittersRCV000011443
NM_000266.4(NDP):c.218C>A (p.Ser73Ter) SNV
Germline		 ChrX:43949983 Pathogenic Atrophia bulborum hereditaria No Assertion Criteria Provided
 CA255485 rs_104894882

1 SubmittersRCV000011444
NM_000266.4(NDP):c.302C>T (p.Ser101Phe) SNV
Germline		 ChrX:43949899 Pathogenic Atrophia bulborum hereditaria No Assertion Criteria Provided
 CA255487 rs_104894883

1 SubmittersRCV000011445
NM_000266.4(NDP):c.109C>T (p.Arg37Ter) SNV
Germline		 ChrX:43958537 Pathogenic/Likely pathogenic Condition: not provided
Atrophia bulborum hereditaria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA220557 rs_398123283

5 SubmittersRCV000078465RCV001822998
NM_000266.4(NDP):c.220C>T (p.Arg74Cys) SNV
Germline		 ChrX:43949981 Pathogenic Condition: not provided
Atrophia bulborum hereditaria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA273351 rs_727504031

3 SubmittersRCV000153537RCV000153538
NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe) SNV
Germline		 Chr7:120806619 Pathogenic Exudative vitreoretinopathy 5
Persistent hyperplastic primary vitreous, autosomal recessive
Atrophia bulborum hereditaria
Familial exudative vitreoretinopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10581517 rs_878853243

3 SubmittersRCV000225062RCV000225079RCV000225020RCV001003234RCV003328570
NM_000266.4(NDP):c.155T>A (p.Leu52Ter) SNV
Germline		 ChrX:43958491 Pathogenic/Likely pathogenic Condition: not provided
Atrophia bulborum hereditaria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10605104 rs_886043097

3 SubmittersRCV000657797RCV002244734
NM_000266.4(NDP):c.268C>T (p.Arg90Cys) SNV
Unknown		 ChrX:43949933 Likely pathogenic Atrophia bulborum hereditaria No Assertion Criteria Provided
 CA16043593 rs_1057518793

1 SubmittersRCV000415091
NM_000266.4(NDP):c.269G>A (p.Arg90His) SNV
Germline		 ChrX:43949932 Conflicting classifications of pathogenicity Atrophia bulborum hereditaria
Condition: not provided
Hearing impairment
not specified		 Criteria Provided
Conflicting Classifications
 rs_104894867

6 SubmittersRCV001003091RCV001306511RCV001375287RCV004526061
NM_000266.4(NDP):c.355A>C (p.Thr119Pro) SNV
Germline		 ChrX:43949846 Likely pathogenic Atrophia bulborum hereditaria Criteria Provided
Single Submitter
 rs_2147204677

1 SubmittersRCV001526728
NM_000266.4(NDP):c.58G>T (p.Gly20Ter) SNV
Germline		 ChrX:43958588 Pathogenic Atrophia bulborum hereditaria Criteria Provided
Single Submitter
 rs_200594881

1 SubmittersRCV001591803
NM_000266.4(NDP):c.242T>C (p.Phe81Ser) SNV
Unknown		 ChrX:43949959 Likely pathogenic Atrophia bulborum hereditaria Criteria Provided
Single Submitter
 rs_2147204801

1 SubmittersRCV001824259
NM_000266.4(NDP):c.3G>A (p.Met1Ile) SNV
Germline		 ChrX:43958643 Conflicting classifications of pathogenicity Atrophia bulborum hereditaria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2147209281

2 SubmittersRCV002250889RCV003094073
NM_000266.4(NDP):c.307C>G (p.Leu103Val) SNV
Germline		 ChrX:43949894 Likely pathogenic Atrophia bulborum hereditaria Criteria Provided
Single Submitter

1 SubmittersRCV002471576
NM_000266.4(NDP):c.181C>A (p.Leu61Ile) SNV
Germline		 ChrX:43950020 Likely pathogenic Atrophia bulborum hereditaria Criteria Provided
Single Submitter

1 SubmittersRCV004577256