ClinVar for MedGen (Select 325364) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6349471.	NM_000344.4(SMN1):c.399_402del (p.Glu134fs) GRCh37: Chr5:70238308-70238311 GRCh38: Chr5:70942481-70942484	SMN1	E134fs	not provided	Pathogenic (Mar 21, 2016)	criteria provided, single submitter
Select item 4958332.	NM_000344.4(SMN1):c.865T>A (p.Cys289Ser) GRCh37: Chr5:70247798 GRCh38: Chr5:70951971	SMN1	C289S, C257S	Werdnig-Hoffmann disease, Spinal muscular atrophy, type IV, Spinal muscular atrophy, type II, Kugelberg-Welander disease, not specified	Uncertain significance (Dec 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4958293.	NM_000344.4(SMN1):c.835-3C>T GRCh37: Chr5:70247765 GRCh38: Chr5:70951938	SMN1		Spinal muscular atrophy, not specified, not provided, Spinal muscular atrophy, type IV	Conflicting interpretations of pathogenicity (Mar 14, 2022)	criteria provided, conflicting interpretations
Select item 4311794.	NC_000005.10:g.70946066_70946176del GRCh37: Chr5:70241892-70242002 GRCh38: Chr5:70946065-70946175	SMN1		Spinal muscular atrophy, type II, Kugelberg-Welander disease, Werdnig-Hoffmann disease, Spinal muscular atrophy, type IV	Pathogenic (Nov 8, 2016)	criteria provided, single submitter

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