ClinVar for MedGen (Select 349137) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341367	NM_207111.4(RNF216):c.1904C>T (p.Pro635Leu)	RNF216 (P578L +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 3068594	NM_001166114.2(PNPLA6):c.1655A>C (p.Gln552Pro)	PNPLA6 (Q487P +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 2444427	NM_207111.4(RNF216):c.986G>A (p.Trp329Ter)	RNF216 (W272* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 2435451	NM_207111.4(RNF216):c.1644G>C (p.Glu548Asp)	RNF216 (E491D +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 2435450	NM_207111.4(RNF216):c.1del (p.Met1fs)	RNF216 (M1fs)	Deletion (frameshift variant +1 more)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 2435449	NM_207111.4(RNF216):c.54C>G (p.Cys18Trp)	RNF216 (C18W)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 2154874	NM_207111.4(RNF216):c.83G>A (p.Arg28Gln)	RNF216 (R28Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1804037	NM_207111.4(RNF216):c.991C>T (p.Gln331Ter)	RNF216 (Q274* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 1696862	NM_207111.4(RNF216):c.2044A>C (p.Asn682His)	RNF216 (N625H +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 1696861	NM_207111.4(RNF216):c.2375A>C (p.Asp792Ala)	RNF216 (D735A +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 1676240	NM_207111.4(RNF216):c.1172G>C (p.Arg391Thr)	RNF216 (R334T +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 1676236	NM_207111.4(RNF216):c.108C>G (p.Asp36Glu)	RNF216 (D36E)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 1407791	NM_207111.4(RNF216):c.1717C>T (p.Arg573Cys)	RNF216 (R573C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1397588	NM_207111.4(RNF216):c.2374G>A (p.Asp792Asn)	RNF216 (D792N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1343797	NM_207111.4(RNF216):c.2149C>T (p.Arg717Cys)	RNF216 (R660C +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 1027515	NM_207111.4(RNF216):c.1849A>G (p.Met617Val)	RNF216 (M560V +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GLikely pathogenic
Select item 1027514	NM_207111.4(RNF216):c.2061+3A>G	RNF216	Single nucleotide variant (intron variant)	Cerebellar ataxia-hypogonadism syndrome	GLikely pathogenic
Select item 813323	GRCh37/hg19 7p22.1(chr7:5692044-5692141)	RNF216	Copy number loss	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 802289	NM_207111.4(RNF216):c.2686G>T (p.Val896Phe)	RNF216 (V839F +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 800990	NM_207111.4(RNF216):c.2663T>A (p.Val888Glu)	RNF216 (V831E +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 786897	NM_207111.4(RNF216):c.149C>G (p.Ala50Gly)	RNF216 (A50G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 587594	NM_207111.4(RNF216):c.202-1G>C	RNF216	Single nucleotide variant (intron variant +1 more)	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 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 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 50914	NM_207111.4(RNF216):c.615_616del (p.Glu205fs)	RNF216 (E205fs +1 more)	Microsatellite (frameshift 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 50912	NM_207111.4(RNF216):c.2251C>T (p.Arg751Cys)	RNF216 (R751C +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic

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Items: 28