ClinVar for MedGen (Select 923704) - ClinVar - NCBI

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Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16798341.	NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter) GRCh37: Chr2:202574614 GRCh38: Chr2:201709891	ALS2	Q1424*	Juvenile amyotrophic lateral sclerosis, Infantile-onset ascending hereditary spastic paralysis	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8733152.	NM_020631.6(PLEKHG5):c.1889C>A (p.Pro630His) GRCh37: Chr1:6529648 GRCh38: Chr1:6469588	PLEKHG5	P630H, P699H, P707H, P667H	Juvenile amyotrophic lateral sclerosis	Likely pathogenic (Mar 31, 2020)	criteria provided, single submitter
Select item 8733143.	NM_020631.6(PLEKHG5):c.1417C>T (p.Gln473Ter) GRCh37: Chr1:6530920 GRCh38: Chr1:6470860	PLEKHG5	Q550, Q473, Q542, Q510	Juvenile amyotrophic lateral sclerosis	Pathogenic (Mar 31, 2020)	criteria provided, single submitter
Select item 8732714.	NM_182961.4(SYNE1):c.23524C>T (p.Arg7842Ter) GRCh37: Chr6:152497632 GRCh38: Chr6:152176497	SYNE1	R44, R7771, R7842*	Juvenile amyotrophic lateral sclerosis	Pathogenic (Mar 31, 2020)	criteria provided, single submitter
Select item 8732705.	NM_182961.4(SYNE1):c.22930C>T (p.Gln7644Ter) GRCh37: Chr6:152527392 GRCh38: Chr6:152206257	SYNE1	Q7573, Q7644	Juvenile amyotrophic lateral sclerosis	Pathogenic (Mar 31, 2020)	criteria provided, single submitter
Select item 8732346.	NM_004960.4(FUS):c.1577A>G (p.Tyr526Cys) GRCh37: Chr16:31202755 GRCh38: Chr16:31191434	FUS	Y525C, Y522C, Y526C	Juvenile amyotrophic lateral sclerosis	Pathogenic (Mar 31, 2020)	criteria provided, single submitter
Select item 8732267.	NM_006459.4(ERLIN1):c.281T>C (p.Val94Ala) GRCh37: Chr10:101937913 GRCh38: Chr10:100178156	ERLIN1	V10A, V94A	Juvenile amyotrophic lateral sclerosis	Pathogenic (Mar 31, 2020)	criteria provided, single submitter
Select item 2801108.	NM_004960.4(FUS):c.1574C>T (p.Pro525Leu) GRCh37: Chr16:31202752 GRCh38: Chr16:31191431	FUS	P525L, P521L, P524L	Amyotrophic lateral sclerosis type 6, Tremor, hereditary essential, 4, not provided, FUS-related condition, Juvenile amyotrophic lateral sclerosis	Pathogenic (Feb 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 2092059.	NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) GRCh37: Chr14:97326965 GRCh38: Chr14:96860628	VRK1	R321C	Juvenile amyotrophic lateral sclerosis, not provided, Pontocerebellar hypoplasia type 1A	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 480710.	NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile) GRCh37: Chr15:50878630 GRCh38: Chr15:50586433	TRPM7	T1482I	Juvenile amyotrophic lateral sclerosis, not provided	Conflicting interpretations of pathogenicity (Mar 31, 2020)	criteria provided, conflicting interpretations