C0152109[trait identifier] AND "Molecular Diagnostics Lab, Nemours Chi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2506919	NM_000344.4(SMN1):c.801G>A (p.Trp267Ter)	SMN1 (W235* +1 more)	Single nucleotide variant (nonsense)	Kugelberg-Welander disease	GPathogenic
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

ClinVar