ClinVar for MedGen (Select 101816) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	NC_000005.9:g.70247853_70247854ins[N[1090];70247841_70247853]	SMN1	Insertion	Kugelberg-Welander disease	GPathogenic
Select item 1679110	NM_000344.3:c.3+32_3+33insSVA	SMN1	Insertion	Kugelberg-Welander disease	GPathogenic
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 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	Spinal muscular atrophy, type II +3 more	GPathogenic
Select item 39514	NC_000005.10:g.(?_70924941)_(70966375_?)del	SMN-AS1, SMN1	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	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	Spinal muscular atrophy, type II +1 more	GPathogenic
Select item 9168	NM_000344.4(SMN1):c.5C>G (p.Ala2Gly)	SMN1 (A2G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 9165	NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)	SMN1 (S262I +1 more)	Single nucleotide variant (missense variant)	not provided +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)	not provided +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 +1 more	GConflicting classifications of pathogenicity

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Items: 22