"GeneReviews"[submitter] AND "SOST"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1676279	NM_025237.3(SOST):c.499T>C (p.Cys167Arg)	SOST (C167R)	Single nucleotide variant (missense variant)	Sclerosteosis 1	Gnot provided
Select item 1342989	NM_025237.3(SOST):c.444_445delinsAA (p.Cys148_Pro149delinsTer)	SOST	Indel (nonsense)	Sclerosteosis 1	Gnot provided
Select item 4786	NM_025237.3(SOST):c.376C>T (p.Arg126Ter)	SOST (R126*)	Single nucleotide variant (nonsense)	Sclerosteosis 1	GPathogenic
Select item 4785	NM_025237.3(SOST):c.372G>A (p.Trp124Ter)	SOST (W124*)	Single nucleotide variant (nonsense)	Sclerosteosis 1	GPathogenic
Select item 1342994	NM_025237.3(SOST):c.371G>A (p.Trp124Ter)	SOST (W124*)	Single nucleotide variant (nonsense)	Sclerosteosis 1	Gnot provided
Select item 1342993	NM_025237.3(SOST):c.296dup (p.Val100fs)	SOST (V100fs)	Duplication (frameshift variant)	Sclerosteosis 1	Gnot provided
Select item 1327523	NM_025237.3(SOST):c.220+3A>T	SOST	Single nucleotide variant (intron variant)	Sclerosteosis 1	Gnot provided
Select item 1342992	NM_025237.3(SOST):c.220+1G>C	SOST	Single nucleotide variant (splice donor variant)	Sclerosteosis 1	Gnot provided
Select item 1342991	NM_025237.3(SOST):c.87dup (p.Lys30fs)	SOST (K30fs)	Duplication (frameshift variant)	Sclerosteosis 1	GPathogenic
Select item 1342990	NM_025237.3(SOST):c.79C>T (p.Gln27Ter)	SOST (Q27*)	Single nucleotide variant (nonsense)	Sclerosteosis 1	Gnot provided
Select item 1342988	NM_025237.3(SOST):c.69C>T (p.Gly23=)	SOST	Single nucleotide variant (synonymous variant)	Sclerosteosis 1	Gnot provided