C1859305[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 50912	NM_207111.4(RNF216):c.2251C>T (p.Arg751Cys)	RNF216 (R751C +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 50913	NM_207111.4(RNF216):c.1791T>A (p.Cys597Ter)	RNF216 (C597* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 199656	NM_207111.4(RNF216):c.1616A>G (p.Tyr539Cys)	RNF216 (Y539C +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 199654	NM_207111.4(RNF216):c.1367G>A (p.Gly456Glu)	RNF216 (G456E +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 199655	NM_207111.4(RNF216):c.904C>T (p.Gln302Ter)	RNF216 (Q302* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 50914	NM_207111.4(RNF216):c.615_616del (p.Glu205fs)	RNF216 (E205fs +1 more)	Microsatellite (frameshift variant)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic

ClinVar