ClinVar 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 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
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 2833863	NM_000522.5(HOXA13):c.1115A>G (p.Asn372Ser)	HOXA13 (N372S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2574987	NM_000522.5(HOXA13):c.1085C>A (p.Ser362Tyr)	HOXA13 (S362Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2568512	NM_000522.5(HOXA13):c.1058G>A (p.Arg353Lys)	HOXA13 (R353K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2396067	NM_000522.5(HOXA13):c.950G>C (p.Ser317Thr)	HOXA13 (S317T)	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 2186438	NM_000522.5(HOXA13):c.1071C>G (p.Ala357=)	HOXA13	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2096016	NM_000522.5(HOXA13):c.1082T>C (p.Leu361Pro)	HOXA13 (L361P)	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 2029399	NM_000522.5(HOXA13):c.1159A>G (p.Thr387Ala)	HOXA13 (T387A)	Single nucleotide variant (missense variant)	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 1957764	NM_000522.5(HOXA13):c.956A>G (p.Tyr319Cys)	HOXA13 (Y319C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1808748	GRCh37/hg19 7p15.2-15.1(chr7:26418391-28323299)x3	EVX1, HIBADH +19 more	Copy number gain	not provided	GUncertain significance

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