SHOX[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145776	GRCh38/hg38 Xp22.33(chrX:610551-629902)x3	SHOX	Copy number gain	See cases	GBenign
Select item 3036935	NM_006883.2(SHOX):c.-637_-636dup	SHOX	Duplication (5 prime UTR variant)	SHOX-related disorder	GLikely benign
Select item 3036689	NM_006883.2(SHOX):c.-636dup	SHOX	Duplication (5 prime UTR variant)	SHOX-related disorder	GBenign
Select item 265992	NM_006883.2(SHOX):c.-649C>G	SHOX	Single nucleotide variant (5 prime UTR variant)	SHOX-related short stature	GLikely benign
Select item 3036731	NM_006883.2(SHOX):c.-646_-645insGTT	SHOX	Insertion (5 prime UTR variant)	SHOX-related disorder	GLikely benign
Select item 3035933	NM_006883.2(SHOX):c.-636del	SHOX	Deletion (5 prime UTR variant)	SHOX-related disorder	GBenign
Select item 191363	NM_006883.2(SHOX):c.-645_-644insGTT	SHOX	Insertion (5 prime UTR variant)	SHOX-related short stature	GPathogenic
Select item 2659855	NM_006883.2(SHOX):c.-646T>G	SHOX	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 191362	NM_006883.2(SHOX):c.-512C>A	SHOX	Single nucleotide variant (5 prime UTR variant)	SHOX-related disorder	GBenign
Select item 191361	NM_006883.2(SHOX):c.-507G>C	SHOX	Single nucleotide variant (5 prime UTR variant)	Connective tissue disorder	GBenign
Select item 1239870	NM_006883.2(SHOX):c.-432-159A>G	SHOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 596992	NM_006883.2(SHOX):c.-432-96G>A	SHOX	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 594692	NM_006883.2(SHOX):c.-432-84C>G	SHOX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 595207	NM_006883.2(SHOX):c.-432-45C>T	SHOX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1702479	NM_006883.2(SHOX):c.-432-14_-432-7del	SHOX	Microsatellite (intron variant)	Connective tissue disorder	GLikely benign
Select item 1683250	NM_006883.2(SHOX):c.-432-3C>A	SHOX	Single nucleotide variant (intron variant)	Leri-Weill dyschondrosteosis +1 more	GConflicting classifications of pathogenicity
Select item 265856	NM_006883.2(SHOX):c.-372G>A	SHOX	Single nucleotide variant (5 prime UTR variant)	SHOX-related short stature	GUncertain significance
Select item 596727	NM_000451.4(SHOX):c.-55C>T	SHOX	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 933226	NM_000451.4(SHOX):c.-19G>A	SHOX	Single nucleotide variant (5 prime UTR variant)	SHOX-related short stature +1 more	GPathogenic/Likely pathogenic
Select item 448372	NM_000451.4(SHOX):c.-19G>C	SHOX	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 586583	NM_000451.4(SHOX):c.-9del	SHOX	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 995257	NM_000451.4(SHOX):c.37G>A (p.Asp13Asn)	SHOX (D13N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1034223	NM_000451.4(SHOX):c.38A>G (p.Asp13Gly)	SHOX (D13G)	Single nucleotide variant (missense variant)	Langer mesomelic dysplasia syndrome	GUncertain significance
Select item 1676140	NM_000451.4(SHOX):c.40C>T (p.Gln14Ter)	SHOX (Q14*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 973779	NM_000451.4(SHOX):c.49A>T (p.Lys17Ter)	SHOX (K17*)	Single nucleotide variant (nonsense)	SHOX-related short stature	GLikely pathogenic
Select item 3068878	NM_000451.4(SHOX):c.53A>T (p.Asp18Val)	SHOX (D18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685104	NM_000451.4(SHOX):c.56G>A (p.Gly19Asp)	SHOX (G19D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686185	NM_000451.4(SHOX):c.66AGGCGG[3] (p.Gly27_Gly28dup)	SHOX	Microsatellite (inframe_insertion)	Leri-Weill dyschondrosteosis	GUncertain significance
Select item 586581	NM_000451.4(SHOX):c.66AGGCGG[1] (p.Gly27_Gly28del)	SHOX	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 36776	NM_000451.4(SHOX):c.63C>T (p.Gly21=)	SHOX	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 1685105	NM_000451.4(SHOX):c.70G>A (p.Gly24Arg)	SHOX (G24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807412	NM_000451.4(SHOX):c.74G>A (p.Gly25Asp)	SHOX (G25D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994488	NM_000451.4(SHOX):c.82G>C (p.Gly28Arg)	SHOX (G28R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 497546	NM_000451.4(SHOX):c.85AAG[1] (p.Lys30del)	SHOX (K30del)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93095	NM_000451.4(SHOX):c.86A>C (p.Lys29Thr)	SHOX (K29T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2684381	NM_000451.4(SHOX):c.88A>G (p.Lys30Glu)	SHOX (K30E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184887	NM_000451.4(SHOX):c.99del (p.Thr34fs)	SHOX (T34fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1807415	NM_000451.4(SHOX):c.100A>T (p.Thr34Ser)	SHOX (T34S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1685106	NM_000451.4(SHOX):c.106C>T (p.Arg36Trp)	SHOX (R36W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 256192	NM_000451.4(SHOX):c.120G>A (p.Glu40=)	SHOX	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 9877	NM_000451.4(SHOX):c.181del (p.Glu61fs)	SHOX (E61fs)	Deletion (frameshift variant)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 1685107	NM_000451.4(SHOX):c.190G>C (p.Gly64Arg)	SHOX (G64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1224485	NM_000451.4(SHOX):c.199C>T (p.Pro67Ser)	SHOX (P67S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1685109	NM_000451.4(SHOX):c.200C>G (p.Pro67Arg)	SHOX (P67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 496584	NM_000451.4(SHOX):c.236A>T (p.Lys79Met)	SHOX (K79M)	Single nucleotide variant (missense variant)	SHOX-related short stature	GUncertain significance
Select item 1333444	NM_000451.4(SHOX):c.250G>T (p.Glu84Ter)	SHOX (E84*)	Single nucleotide variant (nonsense)	Leri-Weill dyschondrosteosis	GLikely pathogenic
Select item 1256549	NM_000451.4(SHOX):c.261C>T (p.Thr87=)	SHOX	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 256193	NM_000451.4(SHOX):c.273A>T (p.Ala91=)	SHOX	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1709316	NM_000451.4(SHOX):c.277+2dup	SHOX	Duplication (splice donor variant)	SHOX-related short stature	GUncertain significance
Select item 2577288	NM_000451.4(SHOX):c.277+8C>T	SHOX	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 93092	NM_000451.4(SHOX):c.277+17T>G	SHOX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1807411	NM_000451.4(SHOX):c.277+20G>C	SHOX	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 988356	NM_000451.4(SHOX):c.495C>A (p.Phe165Leu)	SHOX (F165L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 9879	NM_000451.4(SHOX):c.502C>T (p.Arg168Trp)	SHOX (R168W)	Single nucleotide variant (missense variant)	Langer mesomelic dysplasia syndrome +1 more	GPathogenic
Select item 929168	NM_000451.4(SHOX):c.506G>A (p.Arg169Lys)	SHOX (R169K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 29994	NM_000451.4(SHOX):c.508G>C (p.Ala170Pro)	SHOX (A170P)	Single nucleotide variant (missense variant)	Langer mesomelic dysplasia syndrome +1 more	GPathogenic
Select item 29995	NM_000451.4(SHOX):c.509C>A (p.Ala170Asp)	SHOX (A170D)	Single nucleotide variant (missense variant)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 9878	NM_000451.4(SHOX):c.517C>T (p.Arg173Cys)	SHOX (R173C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1256555	NM_000451.4(SHOX):c.518G>A (p.Arg173His)	SHOX (R173H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 448373	NM_000451.4(SHOX):c.528G>T (p.Glu176Asp)	SHOX (E176D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265858	NM_000451.4(SHOX):c.528G>C (p.Glu176Asp)	SHOX (E176D)	Single nucleotide variant (missense variant)	SHOX-related short stature	GPathogenic
Select item 265857	NM_000451.4(SHOX):c.528= (p.Glu176=)	SHOX	Single nucleotide variant (no sequence alteration)	SHOX-related short stature	GUncertain significance
Select item 497747	NM_000451.4(SHOX):c.543A>C (p.Lys181Asn)	SHOX (K181N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 374328	NM_000451.4(SHOX):c.544+1G>A	SHOX	Single nucleotide variant (splice donor variant)	SHOX-related short stature	GPathogenic
Select item 992441	NM_000451.4(SHOX):c.544+10G>A	SHOX	Single nucleotide variant (intron variant)	SHOX-related short stature	GUncertain significance
Select item 805451	NM_000451.4(SHOX):c.545-10T>C	SHOX	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2498325	NM_000451.4(SHOX):c.547G>C (p.Val183Leu)	SHOX (V183L)	Single nucleotide variant (missense variant)	Langer mesomelic dysplasia syndrome	GUncertain significance
Select item 287763	NM_000451.4(SHOX):c.577G>A (p.Ala193Thr)	SHOX (A193T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2428621	NM_000451.4(SHOX):c.582C>A (p.Cys194Ter)	SHOX (C194*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 9872	NM_000451.4(SHOX):c.583C>T (p.Arg195Ter)	SHOX (R195*)	Single nucleotide variant (nonsense)	Leri-Weill dyschondrosteosis +1 more	GPathogenic
Select item 1685116	NM_000451.4(SHOX):c.584G>A (p.Arg195Gln)	SHOX (R195Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 9873	NM_000451.4(SHOX):c.597C>G (p.Tyr199Ter)	SHOX (Y199*)	Single nucleotide variant (nonsense)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 988349	NM_000451.4(SHOX):c.605del (p.Met202fs)	SHOX (M202fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1685118	NM_000451.4(SHOX):c.606G>A (p.Met202Ile)	SHOX (M202I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507118	NM_000451.4(SHOX):c.611C>A (p.Ala204Asp)	SHOX (A204D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224466	NM_000451.4(SHOX):c.615_616insAA (p.Arg206fs)	SHOX (R206fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 1685119	NM_000451.4(SHOX):c.616C>T (p.Arg206Trp)	SHOX (R206W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807410	NM_000451.4(SHOX):c.617G>A (p.Arg206Gln)	SHOX (R206Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428569	NM_000451.4(SHOX):c.627C>G (p.Phe209Leu)	SHOX (F209L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 448374	NM_000451.4(SHOX):c.633+5C>G	SHOX	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1281912	NM_000451.4(SHOX):c.634-79A>G	SHOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 448375	NM_000451.4(SHOX):c.634-14G>T	SHOX	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 498874	NM_000451.4(SHOX):c.634-7C>T	SHOX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1685120	NM_000451.4(SHOX):c.634-3C>T	SHOX	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2505940	NM_000451.4(SHOX):c.634-2A>G	SHOX	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 586579	NM_000451.4(SHOX):c.640G>A (p.Ala214Thr)	SHOX (A214T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1686190	NM_000451.4(SHOX):c.670G>A (p.Ala224Thr)	SHOX (A224T)	Single nucleotide variant (missense variant +1 more)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 1686192	NM_000451.4(SHOX):c.673CACCCGCACCTG[3] (p.225HPHL[3])	SHOX	Microsatellite (inframe_insertion +1 more)	Leri-Weill dyschondrosteosis	GUncertain significance
Select item 1686191	NM_000451.4(SHOX):c.673CACCCGCACCTG[1] (p.225HPHL[1])	SHOX	Microsatellite (inframe_deletion +1 more)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 448377	NM_000451.4(SHOX):c.698C>T (p.Ala233Val)	SHOX (A233V)	Single nucleotide variant (missense variant +1 more)	SHOX-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 593587	NM_000451.4(SHOX):c.702G>A (p.Ala234=)	SHOX	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 448378	NM_000451.4(SHOX):c.712_714delinsAG (p.Tyr238fs)	SHOX (Y238fs)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 586582	NM_000451.4(SHOX):c.721T>C (p.Phe241Leu)	SHOX (F241L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 9880	NM_000451.4(SHOX):c.728dup (p.Pro244fs)	SHOX (P244fs)	Duplication (frameshift variant +1 more)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 805452	NM_000451.4(SHOX):c.728del (p.Pro243fs)	SHOX (P243fs)	Deletion (frameshift variant +1 more)	Leri-Weill dyschondrosteosis +1 more	GPathogenic
Select item 283837	NM_000451.4(SHOX):c.723C>T (p.Phe241=)	SHOX	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2637770	NM_000451.4(SHOX):c.751G>A (p.Ala251Thr)	SHOX (A251T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1256556	NM_000451.4(SHOX):c.792C>G (p.Ala264=)	SHOX	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1686193	NM_000451.4(SHOX):c.805del (p.Ser269fs)	SHOX (S269fs)	Deletion (frameshift variant +1 more)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 397603	NM_000451.4(SHOX):c.803A>G (p.Lys268Arg)	SHOX (K268R)	Single nucleotide variant (missense variant +1 more)	SHOX-related short stature	GUncertain significance

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