Total 15 pathogenic variants reported for Cerebellar ataxia-hypogonadism syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_207111.4(RNF216):c.2251C>T (p.Arg751Cys) SNV
Germline
Chr7:5641285 Pathogenic Cerebellar ataxia-hypogonadism syndrome No Assertion Criteria Provided
CA143853 rs_387907368

1 SubmittersRCV000043627

NM_207111.4(RNF216):c.1791T>A (p.Cys597Ter) SNV
Germline
Chr7:5715095 Pathogenic Cerebellar ataxia-hypogonadism syndrome No Assertion Criteria Provided
CA143855 rs_387907369

1 SubmittersRCV000043628

NM_207111.4(RNF216):c.1367G>A (p.Gly456Glu) SNV
Germline
Chr7:5729454 Pathogenic Cerebellar ataxia-hypogonadism syndrome No Assertion Criteria Provided
CA203830 rs_794728000

1 SubmittersRCV000180793

NM_207111.4(RNF216):c.904C>T (p.Gln302Ter) SNV
Germline
Chr7:5741113 Pathogenic Cerebellar ataxia-hypogonadism syndrome No Assertion Criteria Provided
CA203832 rs_373785974

1 SubmittersRCV000180794

NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln) SNV
Germline
Chr19:7558970 Conflicting classifications of pathogenicity Condition: not provided
Hereditary spastic paraplegia 39
Rod-cone dystrophy
Ataxia-hypogonadism-choroidal dystrophy syndrome
Laurence-Moon syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Cerebellar ataxia-hypogonadism syndrome
Criteria Provided
Conflicting Classifications
CA16043120 rs_1057517802

5 SubmittersRCV000413765RCV000696127RCV001376230RCV005429017

NM_207111.4(RNF216):c.202-1G>C SNV
Germline
Chr7:5741816 Pathogenic Cerebellar ataxia-hypogonadism syndrome Criteria Provided
Single Submitter
CA366737827 rs_1562451985

1 SubmittersRCV000714821

NM_207111.4(RNF216):c.2061+3A>G SNV
Germline
Chr7:5711758 Likely pathogenic Cerebellar ataxia-hypogonadism syndrome Criteria Provided
Single Submitter
CA2499218944 rs_2128629356

1 SubmittersRCV001647236

NM_207111.4(RNF216):c.1849A>G (p.Met617Val) SNV
Germline
Chr7:5712848 Likely pathogenic Cerebellar ataxia-hypogonadism syndrome Criteria Provided
Single Submitter
CA4148019 rs_200769983

1 SubmittersRCV001647237

NM_207111.4(RNF216):c.1224+2C>T SNV
Germline
Chr7:5730713 Pathogenic/Likely pathogenic Cerebellar ataxia-hypogonadism syndrome Criteria Provided
Multiple Submitters
No Conflicts
rs_374351343

2 SubmittersRCV005257986

NM_207111.4(RNF216):c.2149C>T (p.Arg717Cys) SNV
Germline
Chr7:5652423 Pathogenic Cerebellar ataxia-hypogonadism syndrome Criteria Provided
Single Submitter
CA366713431 rs_1335215379

1 SubmittersRCV001845028

NM_207111.4(RNF216):c.1717C>T (p.Arg573Cys) SNV
Germline
Chr7:5715169 Conflicting classifications of pathogenicity Condition: not provided
Cerebellar ataxia-hypogonadism syndrome
Criteria Provided
Conflicting Classifications
CA4148072 rs_147871230

4 SubmittersRCV001918623RCV004720334

NM_207111.4(RNF216):c.991C>T (p.Gln331Ter) SNV
Germline
Chr7:5741026 Pathogenic Cerebellar ataxia-hypogonadism syndrome Criteria Provided
Single Submitter
CA366732693 rs_2534249263

1 SubmittersRCV002468775

NM_207111.4(RNF216):c.83G>A (p.Arg28Gln) SNV
Germline
Chr7:5752964 Conflicting classifications of pathogenicity Condition: not provided
Cerebellar ataxia-hypogonadism syndrome
Criteria Provided
Conflicting Classifications
CA4148648 rs_536794545

2 SubmittersRCV003069506RCV003485815

NM_207111.4(RNF216):c.986G>A (p.Trp329Ter) SNV
Unknown
Chr7:5741031 Pathogenic Cerebellar ataxia-hypogonadism syndrome Criteria Provided
Single Submitter
CA366732717 rs_1419567670

1 SubmittersRCV003153225