ClinVar for MedGen (Select 95975) - ClinVar - NCBI

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Items: 11

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 6349322.	NM_000344.4(SMN1):c.662C>T (p.Pro221Leu) GRCh37: Chr5:70240519 GRCh38: Chr5:70944692	SMN1	P221L	Spinal muscular atrophy, type II	Uncertain significance (Jan 22, 2016)	criteria provided, single submitter
Select item 6349313.	NM_000344.4(SMN1):c.48_55dup (p.Val19fs) GRCh37: Chr5:70220977-70220978 GRCh38: Chr5:70925150-70925151	SMN1	V19fs	Spinal muscular atrophy, type II	Pathogenic (Jan 19, 2016)	criteria provided, single submitter
Select item 4958334.	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 4311795.	Single allele GRCh37: Chr5:70241892-70242002 GRCh38: Chr5:70946065-70946175	SMN1		Werdnig-Hoffmann disease, Spinal muscular atrophy, type IV, Kugelberg-Welander disease, Spinal muscular atrophy, type II	Pathogenic (Nov 8, 2016)	criteria provided, single submitter
Select item 91776.	NM_000344.4(SMN1):c.332C>G (p.Ala111Gly) GRCh37: Chr5:70238243 GRCh38: Chr5:70942416	SMN1	A111G	not provided	Pathogenic (Mar 3, 2016)	criteria provided, single submitter
Select item 91757.	NM_000344.4(SMN1):c.88G>A (p.Asp30Asn) GRCh37: Chr5:70234672 GRCh38: Chr5:70938845	SMN1	D30N	Spinal muscular atrophy, type II	Pathogenic (Jan 1, 2005)	no assertion criteria provided
Select item 91738.	NM_000344.4(SMN1):c.305G>A (p.Trp102Ter) GRCh37: Chr5:70238216 GRCh38: Chr5:70942389	SMN1	W102*	not provided	Pathogenic (Mar 15, 2016)	criteria provided, single submitter
Select item 91699.	NG_008691.1:g.(32498_32055)_(33073_?)del	SMN1		Spinal muscular atrophy, type II, Kugelberg-Welander disease	Pathogenic (Nov 1, 1998)	no assertion criteria provided
Select item 916810.	NM_000344.4(SMN1):c.5C>G (p.Ala2Gly) GRCh37: Chr5:70220935 GRCh38: Chr5:70925108	SMN1	A2G	not provided, Kugelberg-Welander disease	Pathogenic (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 916411.	NM_000344.4(SMN1):c.821C>T (p.Thr274Ile) GRCh37: Chr5:70241990 GRCh38: Chr5:70946163	SMN1	T274I, T242I	not provided, Kugelberg-Welander disease	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations