ClinVar for Gene (Select 6473) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378144	NM_000451.4(SHOX):c.266G>T (p.Arg89Ile)	SHOX (R89I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370821	NM_000451.4(SHOX):c.39C>A (p.Asp13Glu)	SHOX (D13E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370369	GRCh38/hg38 Xp22.33-22.2(chrX:11091-10219826)x1	AKAP17A, ANOS1 +145 more	Copy number loss	Intellectual disability	GPathogenic
Select item 3366488	NC_000023.10:g.(?_591525)_(601823_605125)dup	SHOX	Duplication	not specified	GUncertain significance
Select item 3347006	NM_000451.4(SHOX):c.442G>C (p.Glu148Gln)	LOC107652445, SHOX (E148Q)	Single nucleotide variant (missense variant)	SHOX-related disorder	GUncertain significance
Select item 3344829	NM_000451.4(SHOX):c.503G>A (p.Arg168Gln)	SHOX (R168Q)	Single nucleotide variant (missense variant)	SHOX-related disorder	GLikely pathogenic
Select item 3344568	NM_000451.4(SHOX):c.231T>A (p.Asn77Lys)	SHOX (N77K)	Single nucleotide variant (missense variant)	SHOX-related disorder	GUncertain significance
Select item 3340312	NM_000451.4(SHOX):c.169C>T (p.Gln57Ter)	SHOX (Q57*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3339958	NM_000451.4(SHOX):c.278-5C>G	LOC107652445, SHOX	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3339353	NM_000451.4(SHOX):c.13A>G (p.Thr5Ala)	SHOX (T5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339005	NM_000451.4(SHOX):c.*18C>A	SHOX	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3337580	NM_000451.4(SHOX):c.649C>T (p.Gln217Ter)	SHOX (Q217*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3336491	NM_000451.4(SHOX):c.*14C>A	SHOX	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3336436	NM_000451.4(SHOX):c.60C>A (p.Asn20Lys)	SHOX (N20K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336185	NC_000023.10:g.(?_591525)_591250dup	SHOX	Duplication	not specified	GUncertain significance
Select item 3336109	NC_000023.10:g.(?_591525)_(591910_595352)dup	SHOX	Duplication	not specified	GUncertain significance
Select item 3253398	NM_000451.4(SHOX):c.631C>T (p.Gln211Ter)	SHOX (Q211*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3252826	NM_000451.4(SHOX):c.278-1G>C	LOC107652445, SHOX	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3252120	NM_000451.4(SHOX):c.755C>A (p.Ser252Ter)	SHOX (S252*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3251388	NM_000451.4(SHOX):c.54C>T (p.Asp18=)	SHOX	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3069196	NM_000451.4(SHOX):c.675_676insA (p.Pro226fs)	SHOX (P226fs)	Insertion (frameshift variant +1 more)	Leri-Weill dyschondrosteosis	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 3068877	NM_000451.4(SHOX):c.464G>T (p.Gly155Val)	LOC107652445, SHOX (G155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063983	NM_000451.4(SHOX):c.486+5G>A	LOC107652445, SHOX	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3062361	GRCh38/hg38 Xp22.33(chrX:335525-805472)	CNE-3, CNE-5 +7 more	Copy number gain	Epilepsy syndrome	GUncertain significance
Select item 3062248	NM_000451.4(SHOX):c.419del (p.His140fs)	LOC107652445, SHOX (H140fs)	Deletion (frameshift variant)	Leri-Weill dyschondrosteosis +1 more	GLikely pathogenic
Select item 3061102	NM_000451.4(SHOX):c.461T>C (p.Leu154Pro)	LOC107652445, SHOX (L154P)	Single nucleotide variant (missense variant)	SHOX-related disorder	GLikely pathogenic
Select item 3036935	NM_006883.2(SHOX):c.-637_-636dup	SHOX	Duplication (5 prime UTR variant)	SHOX-related disorder	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 3036689	NM_006883.2(SHOX):c.-636dup	SHOX	Duplication (5 prime UTR variant)	SHOX-related disorder	GBenign
Select item 3035933	NM_006883.2(SHOX):c.-636del	SHOX	Deletion (5 prime UTR variant)	SHOX-related disorder	GBenign
Select item 3030748	NM_000451.4(SHOX):c.442G>T (p.Glu148Ter)	LOC107652445, SHOX (E148*)	Single nucleotide variant (nonsense)	SHOX-related disorder	GPathogenic
Select item 3024697	GRCh37/hg19 Xp22.33(chrX:591633-595561)x1	SHOX	Copy number loss	not provided	GPathogenic
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 2684380	NM_006883.2(SHOX):c.635T>C (p.Met212Thr)	SHOX (M212T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684378	NM_000451.4(SHOX):c.*14C>G	SHOX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2659857	NM_000451.4(SHOX):c.440G>T (p.Arg147Leu)	LOC107652445, SHOX (R147L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659856	NM_000451.4(SHOX):c.325G>C (p.Glu109Gln)	LOC107652445, SHOX (E109Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659855	NM_006883.2(SHOX):c.-646T>G	SHOX	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 2581424	NC_000023.10:g.(?_585078)_(607559_?)dup	SHOX	Duplication	not specified	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 2573410	NC_000023.10:g.(?_585078)_(595562_601555)dup	SHOX	Duplication	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 2505940	NM_000451.4(SHOX):c.634-2A>G	SHOX	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2503921	NM_000451.4(SHOX):c.401G>T (p.Arg134Leu)	LOC107652445, SHOX (R134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2445832	NM_000451.3:c.(?_-692)_(-433+1_-432-1)del	SHOX	Deletion	not specified	GUncertain significance
Select item 2428621	NM_000451.4(SHOX):c.582C>A (p.Cys194Ter)	SHOX (C194*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1878363	NM_000451.4(SHOX):c.486G>C (p.Gln162His)	LOC107652445, SHOX (Q162H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1807414	NM_000451.4(SHOX):c.435del (p.Phe145fs)	LOC107652445, SHOX (F145fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1807413	NM_000451.4(SHOX):c.454C>T (p.Gln152Ter)	LOC107652445, SHOX (Q152*)	Single nucleotide variant (nonsense)	Leri-Weill dyschondrosteosis +1 more	GPathogenic
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 1807411	NM_000451.4(SHOX):c.277+20G>C	SHOX	Single nucleotide variant (intron variant)	not specified +1 more	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 1806919	NM_006883.2(SHOX):c.655C>T (p.Pro219Ser)	SHOX (P219S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806918	NM_006883.2(SHOX):c.*5G>A	SHOX	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1806917	NM_006883.2(SHOX):c.652C>T (p.Arg218Cys)	SHOX (R218C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806609	NM_000451.4(SHOX):c.391G>T (p.Glu131Ter)	LOC107652445, SHOX (E131*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1709316	NM_000451.4(SHOX):c.277+2dup	SHOX	Duplication (splice donor variant)	SHOX-related short stature	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 1702478	NM_000451.4(SHOX):c.348del (p.Lys116fs)	LOC107652445, SHOX (K116fs)	Deletion (frameshift variant)	Connective tissue disorder	GLikely pathogenic
Select item 1696137	NC_000023.10:g.(595562_601555)_(607559_?)dup	SHOX	Duplication	not specified	GUncertain significance
Select item 1695280	NM_000451.4(SHOX):c.411C>G (p.Asp137Glu)	LOC107652445, SHOX (D137E)	Single nucleotide variant (missense variant)	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 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 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 1686189	NM_000451.4(SHOX):c.463G>C (p.Gly155Arg)	LOC107652445, SHOX (G155R)	Single nucleotide variant (missense variant)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 1686187	NM_000451.4(SHOX):c.335A>C (p.Gln112Pro)	LOC107652445, SHOX (Q112P)	Single nucleotide variant (missense variant)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 1686186	NM_000451.4(SHOX):c.334C>T (p.Gln112Ter)	LOC107652445, SHOX (Q112*)	Single nucleotide variant (nonsense)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 1686185	NM_000451.4(SHOX):c.66AGGCGG[3] (p.Gly27_Gly28dup)	SHOX	Microsatellite (inframe_insertion)	Leri-Weill dyschondrosteosis	GUncertain significance
Select item 1685123	NM_006883.2(SHOX):c.*38C>T	SHOX	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 1685122	NM_006883.2(SHOX):c.638A>G (p.Glu213Gly)	SHOX (E213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685121	NM_000451.4(SHOX):c.839G>C (p.Arg280Pro)	SHOX (R280P)	Single nucleotide variant (missense variant +1 more)	not specified	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 1685119	NM_000451.4(SHOX):c.616C>T (p.Arg206Trp)	SHOX (R206W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1685116	NM_000451.4(SHOX):c.584G>A (p.Arg195Gln)	SHOX (R195Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685115	NM_000451.4(SHOX):c.479G>C (p.Arg160Pro)	LOC107652445, SHOX (R160P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685114	NM_000451.4(SHOX):c.414G>C (p.Glu138Asp)	LOC107652445, SHOX (E138D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685113	NM_000451.4(SHOX):c.397G>A (p.Glu133Lys)	LOC107652445, SHOX (E133K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685112	NM_000451.4(SHOX):c.346A>G (p.Lys116Glu)	LOC107652445, SHOX (K116E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685111	NM_000451.4(SHOX):c.336G>C (p.Gln112His)	LOC107652445, SHOX (Q112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685110	NM_000451.4(SHOX):c.278G>C (p.Gly93Ala)	LOC107652445, SHOX (G93A)	Single nucleotide variant (missense variant)	not specified	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 1685107	NM_000451.4(SHOX):c.190G>C (p.Gly64Arg)	SHOX (G64R)	Single nucleotide variant (missense variant)	not specified	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 1685105	NM_000451.4(SHOX):c.70G>A (p.Gly24Arg)	SHOX (G24R)	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 1683250	NM_006883.2(SHOX):c.-432-3C>A	SHOX	Single nucleotide variant (intron variant +1 more)	Leri-Weill dyschondrosteosis +2 more	GConflicting classifications of pathogenicity
Select item 1678773	NM_000451.4(SHOX):c.421T>G (p.Tyr141Asp)	LOC107652445, SHOX (Y141D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1676140	NM_000451.4(SHOX):c.40C>T (p.Gln14Ter)	SHOX (Q14*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1335751	NM_000451.4(SHOX):c.437T>G (p.Met146Arg)	LOC107652445, SHOX (M146R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333546	NM_000451.4(SHOX):c.463G>T (p.Gly155Trp)	LOC107652445, SHOX (G155W)	Single nucleotide variant (missense variant)	Leri-Weill dyschondrosteosis	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 1319419	NM_000451.4(SHOX):c.431C>A (p.Ala144Asp)	LOC107652445, SHOX (A144D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1297479	NM_000451.4(SHOX):c.278-2A>G	LOC107652445, SHOX	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic/Likely pathogenic

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