Related gene-specific medical variations for Gene (Select 3209) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3594524	NM_000522.5(HOXA13):c.68G>C (p.Gly23Ala)	HOXA13, LOC107126288 (G23A)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594523	NM_000522.5(HOXA13):c.88G>C (p.Glu30Gln)	HOXA13, LOC107126288 (E30Q)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594522	NM_000522.5(HOXA13):c.117_128dup (p.Ala51_Gly52insAlaAlaAlaAla)	HOXA13, LOC107126288	Duplication	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594521	NM_000522.5(HOXA13):c.181C>A (p.Pro61Thr)	HOXA13, LOC107126288 (P61T)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594520	NM_000522.5(HOXA13):c.275C>T (p.Ala92Val)	HOXA13, LOC107126288 (A92V)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594519	NM_000522.5(HOXA13):c.304G>C (p.Ala102Pro)	HOXA13, LOC107126288 (A102P)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594518	NM_000522.5(HOXA13):c.326C>T (p.Pro109Leu)	HOXA13, LOC107126288 (P109L)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594517	NM_000522.5(HOXA13):c.328G>T (p.Gly110Trp)	HOXA13, LOC107126288 (G110W)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594516	NM_000522.5(HOXA13):c.348_377del (p.Ala124_Ala133del)	HOXA13, LOC107126288	Deletion	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594515	NM_000522.5(HOXA13):c.400T>C (p.Ser134Pro)	LOC107126288, HOXA13 (S134P)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594514	NM_000522.5(HOXA13):c.423_424delinsA (p.Ala142fs)	HOXA13, LOC107126288 (A142fs)	Indel (frameshift variant)	Guttmacher syndrome +1 more	GLikely pathogenic
Select item 3594513	NM_000522.5(HOXA13):c.421CCGGCGGGC[1] (p.141PAG[1])	HOXA13, LOC107126288	Microsatellite	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594511	NM_000522.5(HOXA13):c.465C>T (p.Pro155=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594510	NM_000522.5(HOXA13):c.512A>G (p.Tyr171Cys)	LOC107126288, HOXA13 (Y171C)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594509	NM_000522.5(HOXA13):c.581G>C (p.Cys194Ser)	HOXA13, LOC107126288 (C194S)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594508	NM_000522.5(HOXA13):c.606C>A (p.Ala202=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594507	NM_000522.5(HOXA13):c.613G>T (p.Ala205Ser)	LOC107126288, HOXA13 (A205S)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594506	NM_000522.5(HOXA13):c.631A>C (p.Met211Leu)	HOXA13, LOC107126288 (M211L)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594505	NM_000522.5(HOXA13):c.643G>A (p.Gly215Ser)	HOXA13, LOC107126288 (G215S)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594504	NM_000522.5(HOXA13):c.677A>G (p.Lys226Arg)	HOXA13, LOC107126288 (K226R)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594503	NM_000522.5(HOXA13):c.683T>C (p.Phe228Ser)	HOXA13, LOC107126288 (F228S)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594502	NM_000522.5(HOXA13):c.700G>A (p.Gly234Ser)	HOXA13, LOC107126288 (G234S)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594501	NM_000522.5(HOXA13):c.742G>A (p.Gly248Ser)	HOXA13, LOC107126288 (G248S)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594500	NM_000522.5(HOXA13):c.837G>A (p.Trp279Ter)	HOXA13, LOC107126288 (W279*)	Single nucleotide variant (nonsense)	Guttmacher syndrome +1 more	GLikely pathogenic
Select item 3594499	NM_000522.5(HOXA13):c.839C>T (p.Ala280Val)	HOXA13, LOC107126288 (A280V)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594498	NM_000522.5(HOXA13):c.859G>A (p.Gly287Ser)	HOXA13, LOC107126288 (G287S)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GLikely benign
Select item 3594497	NM_000522.5(HOXA13):c.979G>A (p.Val327Met)	HOXA13 (V327M)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594496	NM_000522.5(HOXA13):c.1073C>T (p.Thr358Met)	HOXA13 (T358M)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594495	NM_000522.5(HOXA13):c.1141A>T (p.Ile381Phe)	HOXA13 (I381F)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3594494	NM_000522.5(HOXA13):c.1148A>G (p.Lys383Arg)	HOXA13 (K383R)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3526237	NM_000522.5(HOXA13):c.798C>A (p.His266Gln)	HOXA13, LOC107126288 (H266Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3526236	NM_000522.5(HOXA13):c.394G>A (p.Ala132Thr)	HOXA13, LOC107126288 (A132T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3526235	NM_000522.5(HOXA13):c.455A>C (p.Gln152Pro)	HOXA13, LOC107126288 (Q152P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3526233	NM_000522.5(HOXA13):c.279C>G (p.His93Gln)	HOXA13, LOC107126288 (H93Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3526232	NM_000522.5(HOXA13):c.113C>A (p.Ala38Glu)	HOXA13, LOC107126288 (A38E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3382721	NM_000522.5(HOXA13):c.730C>T (p.Gln244Ter)	HOXA13, LOC107126288 (Q244*)	Single nucleotide variant (nonsense)	Guttmacher syndrome +1 more	GLikely pathogenic
Select item 3382050	NM_000522.5(HOXA13):c.329_342del (p.Gly110fs)	HOXA13, LOC107126288 (G110fs)	Deletion (frameshift variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3360712	NM_000522.5(HOXA13):c.622G>C (p.Asp208His)	HOXA13 (D208H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358798	NM_000522.5(HOXA13):c.67G>A (p.Gly23Ser)	HOXA13, LOC107126288 (G23S)	Single nucleotide variant (missense variant)	Guttmacher syndrome +1 more	GUncertain significance
Select item 3357650	NM_000522.5(HOXA13):c.126A>G (p.Ala42=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related disorder	GLikely benign
Select item 3355933	NM_000522.5(HOXA13):c.378A>C (p.Ala126=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related disorder	GLikely benign
Select item 3355843	NM_000522.5(HOXA13):c.123T>G (p.Ala41=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related disorder	GLikely benign
Select item 3352088	NM_000522.5(HOXA13):c.406T>C (p.Ser136Pro)	HOXA13, LOC107126288 (S136P)	Single nucleotide variant (missense variant)	HOXA13-related disorder	GUncertain significance
Select item 3345293	NM_000522.5(HOXA13):c.258G>A (p.Gln86=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related disorder	GLikely benign
Select item 3343220	NM_000522.5(HOXA13):c.352G>A (p.Ala118Thr)	HOXA13, LOC107126288 (A118T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3284630	NM_000522.5(HOXA13):c.401C>T (p.Ser134Leu)	HOXA13, LOC107126288 (S134L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284629	NM_000522.5(HOXA13):c.203G>C (p.Gly68Ala)	HOXA13, LOC107126288 (G68A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284628	NM_000522.5(HOXA13):c.551T>A (p.Met184Lys)	HOXA13, LOC107126288 (M184K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3234927	NM_000522.5(HOXA13):c.884A>C (p.Gln295Pro)	HOXA13, LOC107126288 (Q295P)	Single nucleotide variant (missense variant)	Hand-foot-genital syndrome	GUncertain significance
Select item 3106558	NM_000522.5(HOXA13):c.871T>C (p.Cys291Arg)	HOXA13, LOC107126288 (C291R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106557	NM_000522.5(HOXA13):c.131C>T (p.Ala44Val)	HOXA13, LOC107126288 (A44V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054028	NM_000522.5(HOXA13):c.461G>A (p.Ser154Asn)	HOXA13, LOC107126288 (S154N)	Single nucleotide variant (missense variant)	HOXA13-related disorder	GUncertain significance
Select item 3047699	NM_000522.5(HOXA13):c.566A>G (p.Asn189Ser)	HOXA13, LOC107126288 (N189S)	Single nucleotide variant (missense variant)	HOXA13-related disorder	GUncertain significance
Select item 3045014	NM_000522.5(HOXA13):c.135T>G (p.Ala45=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related disorder	GLikely benign
Select item 3040337	NM_000522.5(HOXA13):c.375T>G (p.Ala125=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related disorder	GLikely benign
Select item 3037887	NM_000522.5(HOXA13):c.372C>A (p.Ala124=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related disorder	GLikely benign
Select item 3036773	NM_000522.5(HOXA13):c.390C>A (p.Ala130=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related disorder	GLikely benign
Select item 3036749	NM_000522.5(HOXA13):c.363C>G (p.Ala121=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related disorder	GLikely benign
Select item 3036424	NM_000522.5(HOXA13):c.384C>G (p.Ala128=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related disorder	GLikely benign
Select item 3033277	NM_000522.5(HOXA13):c.849C>T (p.Asn283=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related disorder	GLikely benign
Select item 3032454	NM_000522.5(HOXA13):c.228C>A (p.Ala76=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related disorder	GLikely benign
Select item 3030848	NM_000522.5(HOXA13):c.390C>G (p.Ala130=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related disorder	GLikely benign
Select item 3021433	NM_000522.5(HOXA13):c.363C>T (p.Ala121=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019965	NM_000522.5(HOXA13):c.235_252del (p.Ala79_Ala84del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3003510	NM_000522.5(HOXA13):c.597_599dup (p.Ala205_Phe206insAla)	HOXA13, LOC107126288	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2987310	NM_000522.5(HOXA13):c.177C>G (p.Pro59=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984132	NM_000522.5(HOXA13):c.261C>T (p.Cys87=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983467	NM_000522.5(HOXA13):c.381CGC[9] (p.Ala133_Ser134insAlaAlaAla)	HOXA13, LOC107126288	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2974302	NM_000522.5(HOXA13):c.366G>C (p.Ala122=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959307	NM_000522.5(HOXA13):c.922+13C>T	HOXA13, LOC107126288	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2954564	NM_000522.5(HOXA13):c.138_140dup (p.Ala51_Gly52insAla)	HOXA13, LOC107126288	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2920192	NM_000522.5(HOXA13):c.366_374del (p.Ala131_Ala133del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	Guttmacher syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2906467	NM_000522.5(HOXA13):c.354_374del (p.Ala127_Ala133del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	Guttmacher syndrome +2 more	GLikely benign
Select item 2881632	NM_000522.5(HOXA13):c.372C>G (p.Ala124=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824317	NM_000522.5(HOXA13):c.923-3T>C	HOXA13, LOC107126288	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2821787	NM_000522.5(HOXA13):c.375_377del (p.Ala133del)	HOXA13, LOC107126288 (A133del)	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2819935	NM_000522.5(HOXA13):c.133G>T (p.Ala45Ser)	HOXA13, LOC107126288 (A45S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814133	NM_000522.5(HOXA13):c.154G>T (p.Gly52Trp)	HOXA13, LOC107126288 (G52W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804023	NM_000522.5(HOXA13):c.339C>A (p.Pro113=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776841	NM_000522.5(HOXA13):c.579G>A (p.Ser193=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755573	NM_000522.5(HOXA13):c.36C>A (p.Ile12=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711149	NM_000522.5(HOXA13):c.562C>G (p.Pro188Ala)	HOXA13, LOC107126288 (P188A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2710444	NM_000522.5(HOXA13):c.477G>C (p.Ala159=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2634941	NM_000522.5(HOXA13):c.652G>A (p.Ala218Thr)	HOXA13, LOC107126288 (A218T)	Single nucleotide variant (missense variant)	HOXA13-related disorder	GUncertain significance
Select item 2555589	NM_000522.5(HOXA13):c.193G>A (p.Ala65Thr)	HOXA13, LOC107126288 (A65T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539166	NM_000522.5(HOXA13):c.476C>T (p.Ala159Val)	HOXA13, LOC107126288 (A159V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524905	NM_000522.5(HOXA13):c.887C>A (p.Ala296Glu)	HOXA13, LOC107126288 (A296E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516747	NM_000522.5(HOXA13):c.191C>T (p.Ala64Val)	HOXA13, LOC107126288 (A64V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491946	NM_000522.5(HOXA13):c.784G>T (p.Gly262Cys)	HOXA13, LOC107126288 (G262C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489986	NM_000522.5(HOXA13):c.331G>C (p.Glu111Gln)	HOXA13, LOC107126288 (E111Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477335	NM_000522.5(HOXA13):c.245C>A (p.Ala82Asp)	HOXA13, LOC107126288 (A82D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460922	NM_000522.5(HOXA13):c.529G>A (p.Gly177Ser)	HOXA13, LOC107126288 (G177S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455711	NM_000522.5(HOXA13):c.644G>A (p.Gly215Asp)	HOXA13, LOC107126288 (G215D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432524	NM_000522.5(HOXA13):c.133G>A (p.Ala45Thr)	HOXA13, LOC107126288 (A45T)	Single nucleotide variant (missense variant)	Guttmacher syndrome +2 more	GUncertain significance
Select item 2418455	NM_000522.5(HOXA13):c.591C>G (p.Pro197=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414284	NM_000522.5(HOXA13):c.662T>A (p.Phe221Tyr)	HOXA13, LOC107126288 (F221Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2394515	NM_000522.5(HOXA13):c.431C>G (p.Pro144Arg)	HOXA13, LOC107126288 (P144R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394514	NM_000522.5(HOXA13):c.424G>C (p.Ala142Pro)	HOXA13, LOC107126288 (A142P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325454	NM_000522.5(HOXA13):c.848A>G (p.Asn283Ser)	HOXA13, LOC107126288 (N283S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2324533	NM_000522.5(HOXA13):c.614C>T (p.Ala205Val)	HOXA13, LOC107126288 (A205V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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