"PreventionGenetics, part of Exact Sciences"[submitter] AND "IGFALS"[g - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 318235	NM_004970.3(IGFALS):c.1642C>T (p.Arg548Trp)	IGFALS (R548W +1 more)	Single nucleotide variant (missense variant +1 more)	IGFALS-related disorder +1 more	GBenign
Select item 740202	NM_004970.3(IGFALS):c.1526G>A (p.Arg509His)	IGFALS (R509H +1 more)	Single nucleotide variant (missense variant +1 more)	IGFALS-related disorder +1 more	GBenign/Likely benign
Select item 2632862	NM_004970.3(IGFALS):c.1475A>G (p.Asn492Ser)	IGFALS (N492S +1 more)	Single nucleotide variant (missense variant +1 more)	IGFALS-related disorder	GUncertain significance
Select item 3053708	NM_004970.3(IGFALS):c.1446G>A (p.Gln482=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	IGFALS-related disorder	GLikely benign
Select item 318239	NM_004970.3(IGFALS):c.1425G>A (p.Ala475=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	IGFALS-related disorder +2 more	GBenign/Likely benign
Select item 318242	NM_004970.3(IGFALS):c.1266C>T (p.Leu422=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	IGFALS-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 318247	NM_004970.3(IGFALS):c.920C>T (p.Pro307Leu)	IGFALS (P307L +1 more)	Single nucleotide variant (missense variant +1 more)	IGFALS-related disorder +1 more	GLikely benign
Select item 318249	NM_004970.3(IGFALS):c.872G>A (p.Gly291Asp)	IGFALS (G291D +1 more)	Single nucleotide variant (missense variant +1 more)	IGFALS-related disorder +1 more	GUncertain significance
Select item 318252	NM_004970.3(IGFALS):c.801G>A (p.Ala267=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 318262	NM_004970.3(IGFALS):c.289C>T (p.Leu97Phe)	IGFALS (L97F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 749365	NM_004970.3(IGFALS):c.264C>T (p.Ser88=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	IGFALS-related disorder +1 more	GLikely benign
Select item 318265	NM_004970.3(IGFALS):c.210T>C (p.Asp70=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	IGFALS-related disorder +2 more	GBenign
Select item 3043074	NM_004970.3(IGFALS):c.153C>T (p.Asp51=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	IGFALS-related disorder	GLikely benign
Select item 318268	NM_004970.3(IGFALS):c.99G>A (p.Pro33=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	IGFALS-related disorder +2 more	GBenign/Likely benign
Select item 3038081	NM_004970.3(IGFALS):c.17-52C>T	IGFALS (H27Y)	Single nucleotide variant (missense variant +1 more)	IGFALS-related disorder	GBenign