"Athena Diagnostics"[submitter] AND "SHOX"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	SHOX-related short stature +5 more	GBenign/Likely benign
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 provided +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 1807415	NM_000451.4(SHOX):c.100A>T (p.Thr34Ser)	SHOX (T34S)	Single nucleotide variant (missense 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 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 256194	NM_000451.4(SHOX):c.278-15C>A	LOC107652445, SHOX	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 36773	NM_000451.4(SHOX):c.279G>T (p.Gly93=)	LOC107652445, SHOX	Single nucleotide variant (synonymous variant)	not specified	GConflicting classifications of pathogenicity
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 586575	NM_000451.4(SHOX):c.352_353del (p.Arg118fs)	LOC107652445, SHOX (R118fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
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 1256551	NM_000451.4(SHOX):c.364A>C (p.Thr122Pro)	LOC107652445, SHOX (T122P)	Single nucleotide variant (missense variant)	not provided	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 586576	NM_000451.4(SHOX):c.379G>C (p.Glu127Gln)	LOC107652445, SHOX (E127Q)	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 36775	NM_000451.4(SHOX):c.400C>A (p.Arg134=)	LOC107652445, SHOX	Single nucleotide variant (synonymous variant)	SHOX-related short stature +2 more	GBenign/Likely 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 805450	NM_000451.4(SHOX):c.403C>G (p.Leu135Val)	LOC107652445, SHOX (L135V)	Single nucleotide variant (missense variant)	not provided	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 1807414	NM_000451.4(SHOX):c.435del (p.Phe145fs)	LOC107652445, SHOX (F145fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 1256554	NM_000451.4(SHOX):c.486+14G>A	LOC107652445, SHOX	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1256555	NM_000451.4(SHOX):c.518G>A (p.Arg173His)	SHOX (R173H)	Single nucleotide variant (missense variant)	Leri-Weill dyschondrosteosis +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 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 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 586578	NM_000451.4(SHOX):c.547G>A (p.Val183Ile)	SHOX (V183I)	Single nucleotide variant (missense variant)	not specified	GBenign/Likely benign
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 1807410	NM_000451.4(SHOX):c.617G>A (p.Arg206Gln)	SHOX (R206Q)	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 448375	NM_000451.4(SHOX):c.634-14G>T	SHOX	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
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 448377	NM_000451.4(SHOX):c.698C>T (p.Ala233Val)	SHOX (A233V)	Single nucleotide variant (missense variant +1 more)	not specified	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 805452	NM_000451.4(SHOX):c.728del (p.Pro243fs)	SHOX (P243fs)	Deletion (frameshift variant +1 more)	Leri-Weill dyschondrosteosis +1 more	GPathogenic
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 994489	NM_000451.4(SHOX):c.840G>C (p.Arg280=)	SHOX	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 282252	NM_000451.4(SHOX):c.864G>A (p.Glu288=)	SHOX	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign/Likely benign
Select item 198085	NM_000451.4(SHOX):c.870G>A (p.Leu290=)	SHOX	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
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 995255	NM_000451.4(SHOX):c.*5C>T	SHOX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 805448	NM_000451.4(SHOX):c.*18del	SHOX	Deletion (3 prime UTR variant +1 more)	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 1256170	NM_006883.2(SHOX):c.634-1G>C	SHOX	Single nucleotide variant (splice acceptor 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 1806917	NM_006883.2(SHOX):c.652C>T (p.Arg218Cys)	SHOX (R218C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 448376	NM_006883.2(SHOX):c.653G>A (p.Arg218His)	SHOX (R218H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 586580	NM_006883.2(SHOX):c.657G>A (p.Pro219=)	SHOX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 994487	NM_006883.2(SHOX):c.675A>G (p.Ala225=)	SHOX	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 803710	NM_006883.2(SHOX):c.676T>C (p.Ter226Arg)	SHOX	Single nucleotide variant (stop lost)	SHOX-related short stature +1 more	GConflicting classifications of pathogenicity
Select item 1806918	NM_006883.2(SHOX):c.*5G>A	SHOX	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 586572	NM_006883.2(SHOX):c.*12T>C	SHOX	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 586574	NM_000451.4(SHOX):c.144G>A (p.Glu48=)	SHOX	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 586577	NM_000451.4(SHOX):c.486+8C>G	LOC107652445, SHOX	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 586573	NM_006883.2(SHOX):c.*16A>G	SHOX	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance

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Items: 67