ClinVar for MedGen (Select 1788435) - ClinVar - NCBI

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Items: 7

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24314341.	NM_014396.4(VPS41):c.1999C>T (p.Arg667Ter) GRCh37: Chr7:38783125 GRCh38: Chr7:38743525	VPS41	R642, R667	Spinocerebellar ataxia, autosomal recessive 29	Likely pathogenic (Jul 7, 2022)	criteria provided, single submitter
Select item 11757222.	NM_014396.4(VPS41):c.1898G>C (p.Arg633Pro) GRCh37: Chr7:38791804 GRCh38: Chr7:38752204	VPS41	R633P, R608P	Spinocerebellar ataxia, autosomal recessive 29	Pathogenic (Jul 6, 2021)	no assertion criteria provided
Select item 11757213.	NM_014396.4(VPS41):c.1984C>T (p.Arg662Ter) GRCh37: Chr7:38783140 GRCh38: Chr7:38743540	VPS41	R637, R662	Spinocerebellar ataxia, autosomal recessive 29	Pathogenic (Jul 6, 2021)	no assertion criteria provided
Select item 11757204.	NM_014396.4(VPS41):c.1423-2A>G GRCh37: Chr7:38798083 GRCh38: Chr7:38758483	VPS41		Spinocerebellar ataxia, autosomal recessive 29	Pathogenic (Jul 6, 2021)	no assertion criteria provided
Select item 11757195.	NM_014396.4(VPS41):c.2372G>T (p.Cys791Phe) GRCh37: Chr7:38768174 GRCh38: Chr7:38728574	VPS41	C791F, C766F	Spinocerebellar ataxia, autosomal recessive 29	Pathogenic (Jul 6, 2021)	no assertion criteria provided
Select item 11757186.	NM_014396.4(VPS41):c.853T>C (p.Ser285Pro) GRCh37: Chr7:38816308 GRCh38: Chr7:38776708	VPS41	S285P, S260P	Spinocerebellar ataxia, autosomal recessive 29	Pathogenic (Jul 6, 2021)	no assertion criteria provided
Select item 10654127.	NM_014396.4(VPS41):c.450+1G>T GRCh37: Chr7:38857416 GRCh38: Chr7:38817816	VPS41		Spinocerebellar ataxia, autosomal recessive 29	Pathogenic (Jul 6, 2021)	no assertion criteria provided