Total 13 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_207111.4(RNF216):c.202-1G>C SNV
Germline		 Chr7:5741816 Pathogenic Cerebellar ataxia-hypogonadism syndrome Criteria Provided
Single Submitter
 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
 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
 rs_200769983

1 SubmittersRCV001647237
NM_207111.4(RNF216):c.2149C>T (p.Arg717Cys) SNV
Germline		 Chr7:5652423 Pathogenic Cerebellar ataxia-hypogonadism syndrome Criteria Provided
Single Submitter
 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
 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

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

2 SubmittersRCV003069506RCV003485815
NM_207111.4(RNF216):c.986G>A (p.Trp329Ter) SNV
Unknown		 Chr7:5741031 Pathogenic Cerebellar ataxia-hypogonadism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003153225