ClinVar for MedGen (Select 1674542) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585530	NM_005861.4(STUB1):c.460C>T (p.Arg154Cys)	STUB1 (R82C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16	GUncertain significance
Select item 2584742	NM_005861.4(STUB1):c.168C>G (p.Asn56Lys)	STUB1 (N56K)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 16	GPathogenic
Select item 2503107	NM_005861.4(STUB1):c.207C>G (p.Cys69Trp)	STUB1 (C69W)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 16	GLikely pathogenic
Select item 1687361	NM_005861.4(STUB1):c.391T>C (p.Phe131Leu)	STUB1 (F131L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16	GUncertain significance
Select item 1687157	NM_005861.4(STUB1):c.518G>T (p.Arg173Leu)	STUB1 (R101L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16	GUncertain significance
Select item 1687153	NM_005861.4(STUB1):c.469C>T (p.Gln157Ter)	STUB1 (Q157* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 16	GLikely pathogenic
Select item 1679377	NM_005861.4(STUB1):c.612+4_612+46del	JMJD8, STUB1	Deletion (3 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 16	GUncertain significance
Select item 1217982	NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)	STUB1 (K145del +1 more)	Microsatellite (inframe_deletion)	Autosomal recessive spinocerebellar ataxia 16 +2 more	GConflicting classifications of pathogenicity
Select item 1185469	NM_001005920.4(JMJD8):c.*506del	STUB1, JMJD8	Deletion (intron variant +2 more)	Spinocerebellar ataxia 48 +2 more	GBenign
Select item 1184458	NM_005861.4(STUB1):c.779A>C (p.His260Pro)	JMJD8, STUB1 (H188P +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive spinocerebellar ataxia 16	GLikely pathogenic
Select item 1175878	NM_005861.4(STUB1):c.346A>G (p.Asn116Asp)	JMJD8, RHBDL1 +2 more (N116D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16 +1 more	GUncertain significance
Select item 1028430	NM_001005920.4(JMJD8):c.*903G>C	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 16	GUncertain significance
Select item 1027453	NM_001005920.4(JMJD8):c.*1009T>C	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 16	GUncertain significance
Select item 871159	NM_005861.4(STUB1):c.689_692del (p.Tyr230fs)	JMJD8, STUB1 (Y158fs +1 more)	Deletion (frameshift variant +2 more)	Spinocerebellar ataxia 48 +1 more	GPathogenic/Likely pathogenic
Select item 783725	NM_005861.4(STUB1):c.642T>C (p.Leu214=)	JMJD8, STUB1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive spinocerebellar ataxia 16 +2 more	GBenign/Likely benign
Select item 623185	NM_005861.4(STUB1):c.885dup (p.Glu296Ter)	STUB1, JMJD8 (E224* +1 more)	Duplication (nonsense +2 more)	Autosomal recessive spinocerebellar ataxia 16	GPathogenic
Select item 522378	NM_001005920.4(JMJD8):c.*65A>G	JMJD8, STUB1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 16	GLikely pathogenic
Select item 436889	NM_005861.4(STUB1):c.721C>G (p.Arg241Gly)	JMJD8, STUB1 (R241G +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive spinocerebellar ataxia 16	GLikely pathogenic
Select item 436888	NM_005861.4(STUB1):c.694_699del (p.Cys232_Gly233del)	JMJD8, STUB1	Deletion (inframe_deletion +2 more)	Autosomal recessive spinocerebellar ataxia 16	GLikely pathogenic
Select item 436887	NM_005861.4(STUB1):c.646dup (p.Ser216fs)	STUB1, JMJD8 (S216fs +1 more)	Duplication (frameshift variant +2 more)	Autosomal recessive spinocerebellar ataxia 16 +1 more	GPathogenic/Likely pathogenic
Select item 212325	NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)	STUB1 (K145Q +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 162097	NM_005861.4(STUB1):c.194A>G (p.Asn65Ser)	STUB1 (N65S)	Single nucleotide variant (5 prime UTR variant +1 more)	Spinocerebellar ataxia 48 +1 more	GLikely pathogenic
Select item 127150	NM_005861.4(STUB1):c.236C>A (p.Ala79Asp)	STUB1 (A79D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16	GPathogenic
Select item 127149	NM_005861.4(STUB1):c.235G>A (p.Ala79Thr)	STUB1 (A79T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16	GPathogenic
Select item 127148	NM_005861.4(STUB1):c.719T>C (p.Met240Thr)	JMJD8, STUB1 (M240T +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive spinocerebellar ataxia 16	GPathogenic
Select item 127147	NM_005861.4(STUB1):c.367C>G (p.Leu123Val)	STUB1 (L123V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16	GPathogenic
Select item 127146	NM_005861.4(STUB1):c.737C>T (p.Thr246Met)	JMJD8, STUB1 (T246M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 127145	NM_005861.4(STUB1):c.441G>T (p.Trp147Cys)	STUB1 (W147C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16	GPathogenic
Select item 127144	NM_005861.4(STUB1):c.389A>T (p.Asn130Ile)	STUB1 (N130I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16	GPathogenic
Select item 127143	NM_005861.4(STUB1):c.493C>T (p.Leu165Phe)	STUB1 (L165F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16	GPathogenic

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Items: 30