ClinVar for MedGen (Select 21913) - ClinVar

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Items: 23

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25716101.	NM_000344.4(SMN1):c.835-8_835-5delinsG GRCh37: Chr5:70247760-70247763 GRCh38: Chr5:70951933-70951936	SMN1		Werdnig-Hoffmann disease	Pathogenic (Sep 1, 2022)	no assertion criteria provided
Select item 10273712.	NM_017411.4(SMN2):c.835-44A>G GRCh37: Chr5:69372304 GRCh38: Chr5:70076477	SMN2		Werdnig-Hoffmann disease	Uncertain significance	no assertion criteria provided
Select item 10273703.	NM_017411.4(SMN2):c.835-1897C>T GRCh37: Chr5:69370451 GRCh38: Chr5:70074624	SMN2		Werdnig-Hoffmann disease	Uncertain significance	no assertion criteria provided
Select item 9833124.	GRCh37/hg19 5q13.2(chr5:70247768-70248841)x1 GRCh37: Chr5:70247768-70248841	SMN1		Werdnig-Hoffmann disease	Pathogenic (Oct 29, 2017)	no assertion criteria provided
Select item 9833115.	GRCh37/hg19 5q13.2(chr5:70247768-70248841)x1 GRCh37: Chr5:70247768-70248841	SMN1		Werdnig-Hoffmann disease	Pathogenic (Oct 29, 2017)	no assertion criteria provided
Select item 9735416.	NM_000344.4(SMN1):c.724_885del (p.Ile242_Ter295del) GRCh37: Chr5:70241893-70247818 GRCh38: Chr5:70946066-70951991	SMN1		Werdnig-Hoffmann disease	Pathogenic	criteria provided, single submitter
Select item 9294837.	NM_000344.4(SMN1):c.*3+3A>T GRCh37: Chr5:70247824 GRCh38: Chr5:70951997	SMN1		Werdnig-Hoffmann disease	Likely pathogenic	criteria provided, single submitter
Select item 9294678.	NM_000344.4(SMN1):c.280G>T (p.Val94Phe) GRCh37: Chr5:70238191 GRCh38: Chr5:70942364	SMN1	V94F	Werdnig-Hoffmann disease	Likely pathogenic	criteria provided, single submitter
Select item 8054859.	NM_000344.4(SMN1):c.469C>T (p.Gln157Ter) GRCh37: Chr5:70238380 GRCh38: Chr5:70942553	SMN1	Q157*	Werdnig-Hoffmann disease, not provided	Pathogenic (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69210910.	NM_000344.4(SMN1):c.82-2548_723+515del GRCh37: Chr5:70232101-70241078 GRCh38: Chr5:70936274-70945251	SMN1		Werdnig-Hoffmann disease	Pathogenic (Sep 4, 2019)	criteria provided, single submitter
Select item 63494711.	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 63493712.	NM_000344.4(SMN1):c.490C>A (p.Gln164Lys) GRCh37: Chr5:70238560 GRCh38: Chr5:70942733	SMN1	Q164K	not provided, Werdnig-Hoffmann disease	Uncertain significance (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63298513.	NM_000344.4(SMN1):c.835-2A>G GRCh37: Chr5:70247766 GRCh38: Chr5:70951939	SMN1		Spinal muscular atrophy, Werdnig-Hoffmann disease	Pathogenic/Likely pathogenic (Feb 27, 2018)	criteria provided, multiple submitters, no conflicts
Select item 58662814.	NM_000344.4(SMN1):c.840C>T (p.Phe280=) GRCh37: Chr5:70247773 GRCh38: Chr5:70951946	SMN1		Spinal muscular atrophy, not provided	Conflicting interpretations of pathogenicity (Jun 28, 2018)	criteria provided, conflicting interpretations
Select item 58662715.	NM_000344.4(SMN1):c.770_780dup (p.Gly261fs) GRCh37: Chr5:70241936-70241937 GRCh38: Chr5:70946109-70946110	SMN1	G229fs, G261fs	Werdnig-Hoffmann disease, not provided	Pathogenic (Jul 24, 2018)	criteria provided, multiple submitters, no conflicts
Select item 49583316.	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 43117917.	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
Select item 918018.	NM_000344.4(SMN1):c.406C>G (p.Gln136Glu) GRCh37: Chr5:70238317 GRCh38: Chr5:70942490	SMN1	Q136E	Werdnig-Hoffmann disease	Pathogenic (Jul 13, 2004)	no assertion criteria provided
Select item 917919.	NM_000344.4(SMN1):c.346A>T (p.Ile116Phe) GRCh37: Chr5:70238257 GRCh38: Chr5:70942430	SMN1	I116F	not provided	Pathogenic (Jun 14, 2021)	criteria provided, single submitter
Select item 917720.	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 917121.	NM_000344.4(SMN1):c.439_443del (p.Glu147fs) GRCh37: Chr5:70238348-70238352 GRCh38: Chr5:70942521-70942525	SMN1	E147fs	Werdnig-Hoffmann disease	Pathogenic (Feb 1, 2001)	no assertion criteria provided
Select item 916722.	NM_000344.4(SMN1):c.836G>T (p.Gly279Val) GRCh37: Chr5:70247769 GRCh38: Chr5:70951942	SMN1	G279V, G247V	Werdnig-Hoffmann disease	Pathogenic (May 1, 1997)	no assertion criteria provided
Select item 916623.	NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys) GRCh37: Chr5:70241984 GRCh38: Chr5:70946157	SMN1	Y272C, Y240C	Spinal muscular atrophy, not provided, Werdnig-Hoffmann disease	Pathogenic/Likely pathogenic (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 23