ClinVar for MedGen (Select 1642815) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2583091	NM_025237.3(SOST):c.327C>A (p.Cys109Ter)	SOST (C109*)	Single nucleotide variant (nonsense)	Sclerosteosis 1	GLikely pathogenic
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 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 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 1342989	NM_025237.3(SOST):c.444_445delinsAA (p.Cys148_Pro149delinsTer)	SOST	Indel (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
Select item 1327523	NM_025237.3(SOST):c.220+3A>T	SOST	Single nucleotide variant (intron variant)	Sclerosteosis 1	Gnot provided
Select item 892300	NM_025237.3(SOST):c.*178C>T	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GBenign
Select item 892299	NM_025237.3(SOST):c.*203G>A	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 892298	NM_025237.3(SOST):c.*219T>C	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 892297	NM_025237.3(SOST):c.*222A>G	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GLikely benign
Select item 892296	NM_025237.3(SOST):c.*320C>T	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GBenign
Select item 891086	NM_025237.3(SOST):c.*569G>T	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 891085	NM_025237.3(SOST):c.*666T>C	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 891084	NM_025237.3(SOST):c.*689T>C	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 891083	NM_025237.3(SOST):c.*883A>T	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 891082	NM_025237.3(SOST):c.*902T>C	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 890597	NM_025237.3(SOST):c.-21T>G	SOST	Single nucleotide variant (5 prime UTR variant)	Sclerosteosis 1	GLikely benign
Select item 890596	NM_025237.3(SOST):c.56G>A (p.Arg19His)	SOST (R19H)	Single nucleotide variant (missense variant)	Sclerosteosis 1 +2 more	GLikely benign
Select item 890526	NM_025237.3(SOST):c.*1063C>T	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 890525	NM_025237.3(SOST):c.*1267C>G	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 890524	NM_025237.3(SOST):c.*1363C>T	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 890523	NM_025237.3(SOST):c.*1391G>C	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GLikely benign
Select item 890522	NM_025237.3(SOST):c.*1402T>G	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 888901	NM_025237.3(SOST):c.114C>T (p.Pro38=)	SOST	Single nucleotide variant (synonymous variant)	Sclerosteosis 1	GUncertain significance
Select item 888900	NM_025237.3(SOST):c.143C>T (p.Pro48Leu)	SOST (P48L)	Single nucleotide variant (missense variant)	Sclerosteosis 1	GUncertain significance
Select item 888899	NM_025237.3(SOST):c.303C>T (p.Thr101=)	SOST	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888898	NM_025237.3(SOST):c.448G>A (p.Gly150Ser)	SOST (G150S)	Single nucleotide variant (missense variant)	Sclerosteosis 1	GUncertain significance
Select item 888823	NM_025237.3(SOST):c.*1498G>A	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 764169	NM_025237.3(SOST):c.177G>A (p.Ala59=)	SOST	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 323442	NM_025237.3(SOST):c.28G>A (p.Val10Ile)	SOST (V10I)	Single nucleotide variant (missense variant)	Sclerosteosis 1 +1 more	GBenign
Select item 323440	NM_025237.3(SOST):c.153G>A (p.Glu51=)	SOST	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 323439	NM_025237.3(SOST):c.328G>A (p.Gly110Ser)	SOST (G110S)	Single nucleotide variant (missense variant)	Sclerosteosis 1	GUncertain significance
Select item 323438	NM_025237.3(SOST):c.461C>T (p.Pro154Leu)	SOST (P154L)	Single nucleotide variant (missense variant)	Sclerosteosis 1	GUncertain significance
Select item 323437	NM_025237.3(SOST):c.533A>G (p.Glu178Gly)	SOST (E178G)	Single nucleotide variant (missense variant)	Sclerosteosis 1	GUncertain significance
Select item 323436	NM_025237.3(SOST):c.*140A>G	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 323435	NM_025237.3(SOST):c.*314C>G	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 323434	NM_025237.3(SOST):c.*562G>A	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GBenign
Select item 323433	NM_025237.3(SOST):c.*866C>T	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1 +1 more	GBenign
Select item 323432	NM_025237.3(SOST):c.*1004G>A	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GBenign
Select item 323431	NM_025237.3(SOST):c.*1176A>G	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 323428	NM_025237.3(SOST):c.*1394C>G	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GBenign
Select item 323425	NM_025237.3(SOST):c.*1529T>C	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 193461	NM_025237.3(SOST):c.-10G>A	SOST	Single nucleotide variant (5 prime UTR variant)	SOST-related condition +2 more	GBenign/Likely benign
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 4784	NM_025237.3(SOST):c.[220+3A>T;221-67A>C]	SOST	Single nucleotide variant (intron variant)	Sclerosteosis 1	GPathogenic
Select item 4783	NM_025237.3(SOST):c.70C>T (p.Gln24Ter)	SOST (Q24*)	Single nucleotide variant (nonsense)	Sclerosteosis 1	GPathogenic

ClinVar

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Links from MedGen

Items: 51