50964[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 155568	GRCh38/hg38 17q21.31(chr17:43050945-43897883)x3	LOC110485085, LOC111589215 +52 more	Copy number gain	See cases	GUncertain significance
Select item 148621	GRCh38/hg38 17q21.31(chr17:43080123-43897875)x3	ARL4D, BRCA1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 150167	GRCh38/hg38 17q21.31(chr17:43088882-43865172)x3	ARL4D, BRCA1 +50 more	Copy number gain	See cases	GUncertain significance
Select item 154024	GRCh38/hg38 17q21.31(chr17:43322528-43849385)x3	ARL4D, CD300LG +33 more	Copy number gain	See cases	GLikely benign
Select item 148000	GRCh38/hg38 17q21.31(chr17:43387123-43865083)x3	ARL4D, CD300LG +26 more	Copy number gain	See cases	GUncertain significance
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 2499654	GRCh38/hg38 17q21.31(chr17:43603558-44033313)	CD300LG, CFAP97D1 +29 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 323425	NM_025237.3(SOST):c.*1529T>C	SOST	Single nucleotide variant (3 prime UTR 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 323426	NM_025237.3(SOST):c.*1425T>G	SOST	Single nucleotide variant (3 prime UTR variant)	Primary bone dysplasia with increased bone density	GUncertain significance
Select item 323427	NM_025237.3(SOST):c.*1404del	SOST	Deletion (3 prime UTR variant)	Primary bone dysplasia with increased bone density	GBenign
Select item 890522	NM_025237.3(SOST):c.*1402T>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 890523	NM_025237.3(SOST):c.*1391G>C	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GLikely benign
Select item 890524	NM_025237.3(SOST):c.*1363C>T	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 323429	NM_025237.3(SOST):c.*1348del	SOST	Deletion (3 prime UTR variant)	Primary bone dysplasia with increased bone density	GBenign
Select item 890525	NM_025237.3(SOST):c.*1267C>G	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 323430	NM_025237.3(SOST):c.1266_1267insG	SOST	Insertion (3 prime UTR variant)	Primary bone dysplasia with increased bone density	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 890526	NM_025237.3(SOST):c.*1063C>T	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 323432	NM_025237.3(SOST):c.*1004G>A	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GBenign
Select item 891082	NM_025237.3(SOST):c.*902T>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 323433	NM_025237.3(SOST):c.*866C>T	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1 +1 more	GBenign
Select item 891084	NM_025237.3(SOST):c.*689T>C	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 891086	NM_025237.3(SOST):c.*569G>T	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 892296	NM_025237.3(SOST):c.*320C>T	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GBenign
Select item 323435	NM_025237.3(SOST):c.*314C>G	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 892298	NM_025237.3(SOST):c.*219T>C	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 892299	NM_025237.3(SOST):c.*203G>A	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 892300	NM_025237.3(SOST):c.*178C>T	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GBenign
Select item 323436	NM_025237.3(SOST):c.*140A>G	SOST	Single nucleotide variant (3 prime UTR variant)	Sclerosteosis 1	GUncertain significance
Select item 2522680	NM_025237.3(SOST):c.595G>T (p.Ala199Ser)	SOST (A199S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2690058	NM_025237.3(SOST):c.578G>C (p.Arg193Pro)	SOST (R193P)	Single nucleotide variant (missense variant)	not provided	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 1676279	NM_025237.3(SOST):c.499T>C (p.Cys167Arg)	SOST (C167R)	Single nucleotide variant (missense variant)	Sclerosteosis 1	Gnot provided
Select item 2520855	NM_025237.3(SOST):c.479G>C (p.Arg160Pro)	SOST (R160P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3051959	NM_025237.3(SOST):c.448G>C (p.Gly150Arg)	SOST (G150R)	Single nucleotide variant (missense variant)	SOST-related condition	GLikely benign
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 1342989	NM_025237.3(SOST):c.444_445delinsAA (p.Cys148_Pro149delinsTer)	SOST	Indel (nonsense)	Sclerosteosis 1	Gnot provided
Select item 1963376	NM_025237.3(SOST):c.435_436delinsTT (p.Gln145His)	SOST (Q145H)	Indel (missense variant)	not provided	GUncertain significance
Select item 281437	NM_025237.3(SOST):c.429C>T (p.Arg143=)	SOST	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 748587	NM_025237.3(SOST):c.387G>A (p.Gly129=)	SOST	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 1342994	NM_025237.3(SOST):c.371G>A (p.Trp124Ter)	SOST (W124*)	Single nucleotide variant (nonsense)	Sclerosteosis 1	Gnot provided
Select item 2637182	NM_025237.3(SOST):c.350A>G (p.Asn117Ser)	SOST (N117S)	Single nucleotide variant (missense variant)	SOST-related condition	GUncertain significance
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 2583091	NM_025237.3(SOST):c.327C>A (p.Cys109Ter)	SOST (C109*)	Single nucleotide variant (nonsense)	Sclerosteosis 1	GLikely pathogenic
Select item 3026765	NM_025237.3(SOST):c.319G>T (p.Gly107Cys)	SOST (G107C)	Single nucleotide variant (missense variant)	not provided	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 1342993	NM_025237.3(SOST):c.296dup (p.Val100fs)	SOST (V100fs)	Duplication (frameshift variant)	Sclerosteosis 1	Gnot provided
Select item 2211834	NM_025237.3(SOST):c.295C>G (p.Pro99Ala)	SOST (P99A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2999933	NM_025237.3(SOST):c.221-17C>A	SOST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327524	NM_025237.3(SOST):c.221-67A>C	SOST	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1327523	NM_025237.3(SOST):c.220+3A>T	SOST	Single nucleotide variant (intron variant)	Sclerosteosis 1	Gnot provided
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 1342992	NM_025237.3(SOST):c.220+1G>C	SOST	Single nucleotide variant (splice donor variant)	Sclerosteosis 1	Gnot provided
Select item 2406639	NM_025237.3(SOST):c.215C>A (p.Thr72Asn)	SOST (T72N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 747371	NM_025237.3(SOST):c.198C>T (p.Pro66=)	SOST	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 593085	NM_025237.3(SOST):c.191G>A (p.Arg64Gln)	SOST (R64Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2234017	NM_025237.3(SOST):c.190C>T (p.Arg64Trp)	SOST (R64W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1424994	NM_025237.3(SOST):c.184G>A (p.Gly62Arg)	SOST (G62R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1580434	NM_025237.3(SOST):c.180G>A (p.Glu60=)	SOST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2604339	NM_025237.3(SOST):c.149T>G (p.Leu50Arg)	SOST (L50R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 323441	NM_025237.3(SOST):c.147G>A (p.Glu49=)	SOST	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2889275	NM_025237.3(SOST):c.135G>A (p.Glu45=)	SOST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908877	NM_025237.3(SOST):c.132C>T (p.Pro44=)	SOST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1590184	NM_025237.3(SOST):c.120C>T (p.Leu40=)	SOST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 888901	NM_025237.3(SOST):c.114C>T (p.Pro38=)	SOST	Single nucleotide variant (synonymous variant)	Sclerosteosis 1	GUncertain significance
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 2611543	NM_025237.3(SOST):c.74G>A (p.Gly25Glu)	SOST (G25E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205833	NM_025237.3(SOST):c.71A>T (p.Gln24Leu)	SOST (Q24L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4783	NM_025237.3(SOST):c.70C>T (p.Gln24Ter)	SOST (Q24*)	Single nucleotide variant (nonsense)	Sclerosteosis 1	GPathogenic
Select item 1342988	NM_025237.3(SOST):c.69C>T (p.Gly23=)	SOST	Single nucleotide variant (synonymous variant)	Sclerosteosis 1	Gnot provided
Select item 31593	NM_025237.3(SOST):c.61G>T (p.Val21Leu)	SOST (V21L)	Single nucleotide variant (missense variant)	Craniodiaphyseal dysplasia, autosomal dominant	GPathogenic
Select item 31592	NM_025237.3(SOST):c.61G>A (p.Val21Met)	SOST (V21M)	Single nucleotide variant (missense variant)	SOST-related condition	GLikely pathogenic
Select item 2407109	NM_025237.3(SOST):c.59T>C (p.Val20Ala)	SOST (V20A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1544943	NM_025237.3(SOST):c.36G>T (p.Leu12=)	SOST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1513519	NM_025237.3(SOST):c.27C>T (p.Leu9=)	SOST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2261293	NM_025237.3(SOST):c.17C>T (p.Ala6Val)	SOST (A6V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 890597	NM_025237.3(SOST):c.-21T>G	SOST	Single nucleotide variant (5 prime UTR variant)	Sclerosteosis 1	GLikely benign
Select item 3027400	GRCh37/hg19 17q21.31(chr17:41832710-41833131)x1	SOST	Copy number loss	not provided	GUncertain significance
Select item 1526577	GRCh37/hg19 17q21.31(chr17:41202796-41974964)	ARL4D, BRCA1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 815937	GRCh37/hg19 17q21.31(chr17:41399892-42125780)x3	ARL4D, CD300LG +13 more	Copy number gain	not provided	GUncertain significance
Select item 688227	GRCh37/hg19 17q21.31(chr17:41800157-41903109)x1	CFAP97D1, DUSP3 +2 more	Copy number loss	not provided	GUncertain significance

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