Related gene-specific medical variations for Gene (Select 6473) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2581424	NC_000023.10:g.(?_585078)_(607559_?)dup	SHOX	Duplication	not specified	GUncertain significance
Select item 2573410	NC_000023.10:g.(?_585078)_(595562_601555)dup	SHOX	Duplication	not specified	GUncertain significance
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 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)	not provided	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 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 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 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 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 1678773	NM_000451.4(SHOX):c.421T>G (p.Tyr141Asp)	LOC107652445, SHOX (Y141D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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
Select item 1281711	NM_000451.4(SHOX):c.486+142G>C	LOC107652445, SHOX	Single nucleotide variant (intron variant)	not provided	GBenign
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 1256554	NM_000451.4(SHOX):c.486+14G>A	LOC107652445, SHOX	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1256553	NM_000451.4(SHOX):c.439C>A (p.Arg147Ser)	LOC107652445, SHOX (R147S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1256552	NM_000451.4(SHOX):c.374C>T (p.Thr125Met)	LOC107652445, SHOX (T125M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256551	NM_000451.4(SHOX):c.364A>C (p.Thr122Pro)	LOC107652445, SHOX (T122P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256550	NM_000451.4(SHOX):c.342G>A (p.Lys114=)	LOC107652445, SHOX	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1256549	NM_000451.4(SHOX):c.261C>T (p.Thr87=)	SHOX	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1256170	NM_006883.2(SHOX):c.634-1G>C	SHOX	Single nucleotide variant (splice acceptor 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 1224417	NM_000451.4(SHOX):c.397G>C (p.Glu133Gln)	LOC107652445, SHOX (E133Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190180	NM_000451.4(SHOX):c.295G>C (p.Glu99Gln)	LOC107652445, SHOX (E99Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1184887	NM_000451.4(SHOX):c.99del (p.Thr34fs)	SHOX (T34fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1175841	GRCh37/hg19 Xp22.33(chrX:585079-619564)x1	SHOX	Copy number loss	not provided	GPathogenic
Select item 1034222	NM_000451.4(SHOX):c.389A>C (p.Asn130Thr)	LOC107652445, SHOX (N130T)	Single nucleotide variant (missense variant)	Langer mesomelic dysplasia syndrome	GUncertain significance
Select item 995259	NM_000451.4(SHOX):c.420T>C (p.His140=)	LOC107652445, SHOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 995258	NM_000451.4(SHOX):c.402A>G (p.Arg134=)	LOC107652445, SHOX	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 995256	NM_000451.4(SHOX):c.361C>G (p.Arg121Gly)	LOC107652445, SHOX (R121G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995255	NM_000451.4(SHOX):c.*5C>T	SHOX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 995254	NM_000451.4(SHOX):c.*3C>T	SHOX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 994489	NM_000451.4(SHOX):c.840G>C (p.Arg280=)	SHOX	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
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 994487	NM_006883.2(SHOX):c.675A>G (p.Ala225=)	SHOX	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 983025	NM_000451.4(SHOX):c.349C>T (p.Gln117Ter)	LOC107652445, SHOX (Q117*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 805450	NM_000451.4(SHOX):c.403C>G (p.Leu135Val)	LOC107652445, SHOX (L135V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805449	NM_000451.4(SHOX):c.399G>C (p.Glu133Asp)	LOC107652445, SHOX (E133D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 635523	NM_000451.4(SHOX):c.479G>A (p.Arg160His)	SHOX, LOC107652445 (R160H)	Single nucleotide variant (missense variant)	SHOX-related short stature	GLikely pathogenic
Select item 586583	NM_000451.4(SHOX):c.-9del	SHOX	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 586577	NM_000451.4(SHOX):c.486+8C>G	LOC107652445, SHOX	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 586576	NM_000451.4(SHOX):c.379G>C (p.Glu127Gln)	LOC107652445, SHOX (E127Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586575	NM_000451.4(SHOX):c.352_353del (p.Arg118fs)	LOC107652445, SHOX (R118fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 497719	NM_000451.4(SHOX):c.362G>C (p.Arg121Pro)	LOC107652445, SHOX (R121P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 288270	NM_000451.4(SHOX):c.437T>C (p.Met146Thr)	LOC107652445, SHOX (M146T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 287437	NM_000451.4(SHOX):c.440G>A (p.Arg147His)	LOC107652445, SHOX (R147H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 265860	NM_000451.4(SHOX):c.284_285dup	SHOX	Duplication (3 prime UTR variant +1 more)	SHOX-related short stature	GUncertain significance
Select item 265859	NM_000451.4(SHOX):c.*41C>A	SHOX	Single nucleotide variant (3 prime UTR variant +1 more)	SHOX-related short stature	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 265856	NM_006883.2(SHOX):c.-372G>A	SHOX	Single nucleotide variant (5 prime UTR variant)	SHOX-related short stature	GUncertain significance
Select item 256194	NM_000451.4(SHOX):c.278-15C>A	LOC107652445, SHOX	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 256193	NM_000451.4(SHOX):c.273A>T (p.Ala91=)	SHOX	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 256192	NM_000451.4(SHOX):c.120G>A (p.Glu40=)	SHOX	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 256191	NM_000451.4(SHOX):c.16_26dup	SHOX	Duplication (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 191363	NM_006883.2(SHOX):c.-645_-644insGTT	SHOX	Insertion (5 prime UTR variant)	SHOX-related short stature	GPathogenic
Select item 155577	GRCh38/hg38 Xp22.33(chrX:653429-722113)x1	SHOX	Copy number loss	See cases	GUncertain significance
Select item 155285	GRCh38/hg38 Xp22.33(chrX:646216-664161)x1	SHOX	Copy number loss	See cases	GLikely pathogenic
Select item 151058	GRCh38/hg38 Xp22.33(chrX:658352-662562)x3	SHOX	Copy number gain	See cases	GUncertain significance
Select item 145776	GRCh38/hg38 Xp22.33(chrX:610551-629902)x3	SHOX	Copy number gain	See cases	GBenign
Select item 66087	NC_000024.9:g.730550_778092del	SHOX	Deletion	SHOX-related short stature +1 more	GPathogenic
Select item 36775	NM_000451.4(SHOX):c.400C>A (p.Arg134=)	LOC107652445, SHOX	Single nucleotide variant (synonymous variant)	Connective tissue disorder +2 more	GBenign/Likely benign
Select item 36774	NM_000451.4(SHOX):c.347A>G (p.Lys116Arg)	LOC107652445, SHOX (K116R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 36773	NM_000451.4(SHOX):c.279G>T (p.Gly93=)	LOC107652445, SHOX	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 9884	NC_000023.11:g.(651585_658784)_(659412_1759412)del	SHOX	Deletion	Leri-Weill dyschondrosteosis +1 more	GPathogenic
Select item 9882	NM_000451.4(SHOX):c.304G>T (p.Glu102Ter)	SHOX, LOC107652445 (E102*)	Single nucleotide variant (nonsense)	Leri-Weill dyschondrosteosis	GPathogenic

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