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 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)	not provided	GLikely benign
Select item 2906467	NM_000522.5(HOXA13):c.354_374del (p.Ala127_Ala133del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	not provided	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)	not provided	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	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
Select item 2307721	NM_000522.5(HOXA13):c.500C>G (p.Ala167Gly)	HOXA13, LOC107126288 (A167G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286586	NM_000522.5(HOXA13):c.538C>T (p.Pro180Ser)	HOXA13, LOC107126288 (P180S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256570	NM_000522.5(HOXA13):c.421C>T (p.Pro141Ser)	HOXA13, LOC107126288 (P141S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251011	NM_000522.5(HOXA13):c.112G>A (p.Ala38Thr)	HOXA13, LOC107126288 (A38T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233062	NM_000522.5(HOXA13):c.631A>T (p.Met211Leu)	HOXA13, LOC107126288 (M211L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222394	NM_000522.5(HOXA13):c.157G>A (p.Ala53Thr)	HOXA13, LOC107126288 (A53T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215150	NM_000522.5(HOXA13):c.544G>T (p.Ala182Ser)	HOXA13, LOC107126288 (A182S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210432	NM_000522.5(HOXA13):c.505C>G (p.Leu169Val)	HOXA13, LOC107126288 (L169V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194654	NM_000522.5(HOXA13):c.529G>C (p.Gly177Arg)	HOXA13, LOC107126288 (G177R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2184291	NM_000522.5(HOXA13):c.275C>G (p.Ala92Gly)	HOXA13, LOC107126288 (A92G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181854	NM_000522.5(HOXA13):c.504_505delinsAG (p.Leu169Val)	HOXA13, LOC107126288 (L169V)	Indel (missense variant)	not provided	GUncertain significance
Select item 2177486	NM_000522.5(HOXA13):c.784G>A (p.Gly262Ser)	HOXA13, LOC107126288 (G262S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175156	NM_000522.5(HOXA13):c.129A>G (p.Ala43=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2172071	NM_000522.5(HOXA13):c.294G>T (p.Ala98=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148846	NM_000522.5(HOXA13):c.234_251del (p.Ala79_Ala84del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2140168	NM_000522.5(HOXA13):c.132G>C (p.Ala44=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2129002	NM_000522.5(HOXA13):c.375_398dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAla)	HOXA13, LOC107126288	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2111056	NM_000522.5(HOXA13):c.24C>A (p.His8Gln)	HOXA13, LOC107126288 (H8Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085888	NM_000522.5(HOXA13):c.470C>T (p.Ser157Leu)	HOXA13, LOC107126288 (S157L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081967	NM_000522.5(HOXA13):c.588G>A (p.Gln196=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070288	NM_000522.5(HOXA13):c.381CGC[3] (p.Ala131_Ala133del)	HOXA13, LOC107126288	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2063037	NM_000522.5(HOXA13):c.196G>T (p.Ala66Ser)	HOXA13, LOC107126288 (A66S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052430	NM_000522.5(HOXA13):c.598GCC[7] (p.Ala205_Phe206insAla)	HOXA13, LOC107126288	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2034490	NM_000522.5(HOXA13):c.126_152dup (p.Ala51_Gly52insAlaAlaAlaAlaAlaAlaAlaAlaAla)	HOXA13, LOC107126288	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1988201	NM_000522.5(HOXA13):c.496C>T (p.Pro166Ser)	HOXA13, LOC107126288 (P166S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1985046	NM_000522.5(HOXA13):c.850G>A (p.Gly284Ser)	HOXA13, LOC107126288 (G284S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973247	NM_000522.5(HOXA13):c.423G>A (p.Pro141=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946001	NM_000522.5(HOXA13):c.448G>A (p.Ala150Thr)	HOXA13, LOC107126288 (A150T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945987	NM_000522.5(HOXA13):c.360T>A (p.Ala120=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945982	NM_000522.5(HOXA13):c.366_386del (p.Ala127_Ala133del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1937756	NM_000522.5(HOXA13):c.191C>A (p.Ala64Glu)	HOXA13, LOC107126288 (A64E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928569	NM_000522.5(HOXA13):c.357_383del (p.Ala125_Ala133del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1927936	NM_000522.5(HOXA13):c.418G>T (p.Gly140Cys)	HOXA13, LOC107126288 (G140C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922821	NM_000522.5(HOXA13):c.270G>A (p.Leu90=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918967	NM_000522.5(HOXA13):c.24C>T (p.His8=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899328	NM_000522.5(HOXA13):c.870C>T (p.Tyr290=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1805747	NM_000522.5(HOXA13):c.741dup (p.Gly248fs)	HOXA13, LOC107126288 (G248fs)	Duplication (frameshift variant)	Hand-foot-genital syndrome	GLikely pathogenic
Select item 1801485	NM_000522.5(HOXA13):c.869A>C (p.Tyr290Ser)	HOXA13, LOC107126288 (Y290S)	Single nucleotide variant (missense variant)	Hand-foot-genital syndrome	GLikely pathogenic
Select item 1685262	NM_000522.5(HOXA13):c.381CGC[5] (p.Ala133del)	HOXA13, LOC107126288 (A133del)	Microsatellite (inframe_deletion)	not specified +1 more	GBenign/Likely benign
Select item 1679415	NM_000522.5(HOXA13):c.1112A>T (p.Gln371Leu)	HOXA13 (Q371L)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1672190	NM_000522.5(HOXA13):c.175C>G (p.Pro59Ala)	HOXA13, LOC107126288 (P59A)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1661759	NM_000522.5(HOXA13):c.147G>A (p.Ala49=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1643421	NM_000522.5(HOXA13):c.897C>T (p.Pro299=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1639184	NM_000522.5(HOXA13):c.25C>T (p.Pro9Ser)	LOC107126288, HOXA13 (P9S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1636847	NM_000522.5(HOXA13):c.678G>A (p.Lys226=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1542751	NM_000522.5(HOXA13):c.456A>G (p.Gln152=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1497961	NM_000522.5(HOXA13):c.921C>G (p.Pro307=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1484314	NM_000522.5(HOXA13):c.373G>A (p.Ala125Thr)	HOXA13, LOC107126288 (A125T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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