ClinVar for MedGen (Select 101816) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362672	NM_017411.4(SMN2):c.869C>G (p.Ser290Ter)	SMN2 (S258* +1 more)	Single nucleotide variant (nonsense +1 more)	Kugelberg-Welander disease	GLikely benign
Select item 3239717	NM_000344.4(SMN1):c.835-18_835-15del	SMN1	Deletion (intron variant)	Kugelberg-Welander disease	GUncertain significance
Select item 3239712	NM_000344.4(SMN1):c.808A>G (p.Ser270Gly)	SMN1 (S238G +1 more)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease	GLikely pathogenic
Select item 3239632	NM_000344.4(SMN1):c.766G>T (p.Asp256Tyr)	SMN1 (D224Y +1 more)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease	GLikely pathogenic
Select item 3239631	NM_000344.4(SMN1):c.347T>C (p.Ile116Thr)	SMN1 (I116T)	Single nucleotide variant (missense variant)	Werdnig-Hoffmann disease +1 more	GLikely pathogenic
Select item 3239630	NM_000344.4(SMN1):c.13del (p.Ser5fs)	SMN1 (S5fs)	Deletion (frameshift variant)	Kugelberg-Welander disease	GPathogenic
Select item 2506919	NM_000344.4(SMN1):c.801G>A (p.Trp267Ter)	SMN1 (W235* +1 more)	Single nucleotide variant (nonsense)	Kugelberg-Welander disease	GPathogenic
Select item 2443947	NG_008691.1:g.32086_32087ins[N[1090];32074_32086]	SMN1	Insertion	Kugelberg-Welander disease	GPathogenic
Select item 2190592	NM_000344.4(SMN1):c.861_864del (p.Arg288fs)	SMN1 (R256fs +1 more)	Microsatellite (frameshift variant +1 more)	Spinal muscular atrophy +5 more	GConflicting classifications of pathogenicity
Select item 2113655	NM_000344.4(SMN1):c.841A>G (p.Arg281Gly)	SMN1 (R249G +1 more)	Single nucleotide variant (missense variant +1 more)	Spinal muscular atrophy +1 more	GUncertain significance
Select item 1679110	NM_000344.3:c.3+32_3+33insSVA	SMN1	Insertion	Kugelberg-Welander disease	GPathogenic
Select item 1331398	NM_000344.4(SMN1):c.*3+80T>G	SMN1	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 870142	NM_000344.4(SMN1):c.379T>C (p.Tyr127His)	SMN1 (Y127H)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease	GLikely pathogenic
Select item 638580	NM_000344.4(SMN1):c.278A>C (p.Lys93Thr)	SMN1 (K93T)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease	GUncertain significance
Select item 634947	NM_000344.4(SMN1):c.399_402del (p.Glu134fs)	SMN1 (E134fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 634942	NM_000344.4(SMN1):c.724-2A>G	SMN1	Single nucleotide variant (splice acceptor variant)	Kugelberg-Welander disease	GPathogenic
Select item 632989	NM_000344.4(SMN1):c.835-1G>A	SMN1	Single nucleotide variant (intron variant +1 more)	Kugelberg-Welander disease +4 more	GPathogenic/Likely pathogenic
Select item 495833	NM_000344.4(SMN1):c.865T>A (p.Cys289Ser)	SMN1 (C289S +1 more)	Single nucleotide variant (missense variant +1 more)	Werdnig-Hoffmann disease +4 more	GUncertain significance
Select item 431179	NC_000005.10:g.70946066_70946176del	SMN1	Deletion	Werdnig-Hoffmann disease +3 more	GPathogenic
Select item 39514	NC_000005.10:g.(?_70924941)_(70966375_?)del	SMN1, SMN1-AS1	Deletion	Kugelberg-Welander disease	GPathogenic
Select item 39513	NM_000344.4(SMN1):c.388T>C (p.Tyr130His)	SMN1 (Y130H)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease	GPathogenic
Select item 39512	NM_000344.4(SMN1):c.389A>G (p.Tyr130Cys)	SMN1 (Y130C)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease	GPathogenic
Select item 9178	NM_000344.4(SMN1):c.784A>G (p.Ser262Gly)	SMN1 (S262G +1 more)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease	GPathogenic
Select item 9176	NM_000344.4(SMN1):c.283G>C (p.Gly95Arg)	SMN1 (G95R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 9173	NM_000344.4(SMN1):c.305G>A (p.Trp102Ter)	SMN1 (W102*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 9172	NM_000344.4(SMN1):c.131A>T (p.Asp44Val)	SMN1 (D44V)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease	GPathogenic
Select item 9170	NM_000344.4(SMN1):c.834+6T>G	SMN1	Single nucleotide variant (intron variant)	Kugelberg-Welander disease	GPathogenic
Select item 9169	NG_008691.1:g.(32498_32055)_(33073_?)del	SMN1	Deletion	Kugelberg-Welander disease +1 more	GPathogenic
Select item 9168	NM_000344.4(SMN1):c.5C>G (p.Ala2Gly)	SMN1 (A2G)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease +2 more	GPathogenic
Select item 9165	NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)	SMN1 (S262I +1 more)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease +1 more	GPathogenic/Likely pathogenic
Select item 9164	NM_000344.4(SMN1):c.821C>T (p.Thr274Ile)	SMN1 (T274I +1 more)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease +1 more	GConflicting classifications of pathogenicity
Select item 7962	NM_017411.4(SMN2):c.859G>C (p.Gly287Arg)	SMN2 (G287R +1 more)	Single nucleotide variant (missense variant +1 more)	Spinal muscular atrophy +2 more	GConflicting classifications of pathogenicity

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Items: 32