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 SubmittersRCV000413765 RCV000696127 RCV001376230 RCV005429017
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 SubmittersRCV001918623 RCV004720334
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 SubmittersRCV003069506 RCV003485815
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