HOXA3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 2460236	NM_153631.3(HOXA3):c.1310C>T (p.Ala437Val)	HOXA3 (A437V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268116	NM_153631.3(HOXA3):c.1294G>C (p.Gly432Arg)	HOXA3 (G432R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527886	NM_153631.3(HOXA3):c.1262A>G (p.Tyr421Cys)	HOXA3 (Y421C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493211	NM_153631.3(HOXA3):c.1258A>G (p.Thr420Ala)	HOXA3 (T420A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313237	NM_153631.3(HOXA3):c.1248G>C (p.Glu416Asp)	HOXA3 (E416D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106571	NM_153631.3(HOXA3):c.1243G>A (p.Gly415Arg)	HOXA3 (G415R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217131	NM_153631.3(HOXA3):c.1166C>G (p.Pro389Arg)	HOXA3 (P389R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106570	NM_153631.3(HOXA3):c.1120C>A (p.Pro374Thr)	HOXA3 (P374T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236827	NM_153631.3(HOXA3):c.1112A>T (p.Tyr371Phe)	HOXA3 (Y371F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223559	NM_153631.3(HOXA3):c.1093G>T (p.Val365Phe)	HOXA3 (V365F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106569	NM_153631.3(HOXA3):c.1039C>T (p.His347Tyr)	HOXA3 (H347Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106568	NM_153631.3(HOXA3):c.1012G>T (p.Gly338Cys)	HOXA3 (G338C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284633	NM_153631.3(HOXA3):c.973C>A (p.Pro325Thr)	HOXA3 (P325T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334676	NM_153631.3(HOXA3):c.954C>G (p.Ser318Arg)	HOXA3 (S318R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106579	NM_153631.3(HOXA3):c.937C>A (p.Pro313Thr)	HOXA3 (P313T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383820	NM_153631.3(HOXA3):c.910A>G (p.Thr304Ala)	HOXA3 (T304A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2546752	NM_153631.3(HOXA3):c.824G>A (p.Gly275Asp)	HOXA3 (G275D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603224	NM_153631.3(HOXA3):c.809C>A (p.Pro270His)	HOXA3 (P270H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106578	NM_153631.3(HOXA3):c.782G>A (p.Gly261Asp)	HOXA3 (G261D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517654	NM_153631.3(HOXA3):c.676A>G (p.Asn226Asp)	HOXA3 (N226D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106577	NM_153631.3(HOXA3):c.637A>C (p.Asn213His)	HOXA3 (N213H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106576	NM_153631.3(HOXA3):c.632A>T (p.His211Leu)	HOXA3 (H211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341343	NM_153631.3(HOXA3):c.569C>G (p.Ser190Trp)	HOXA3 (S190W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261085	NM_153631.3(HOXA3):c.445C>T (p.Pro149Ser)	HOXA3 (P149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537726	NM_153631.3(HOXA3):c.430C>T (p.Pro144Ser)	HOXA3 (P144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530129	NM_153631.3(HOXA3):c.419C>T (p.Ala140Val)	HOXA3 (A140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106575	NM_153631.3(HOXA3):c.332C>T (p.Pro111Leu)	HOXA3 (P111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657361	NM_153631.3(HOXA3):c.321C>A (p.Pro107=)	HOXA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3106574	NM_153631.3(HOXA3):c.305C>T (p.Pro102Leu)	HOXA3 (P102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332859	NM_153631.3(HOXA3):c.304C>T (p.Pro102Ser)	HOXA3 (P102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279347	NM_153631.3(HOXA3):c.263C>A (p.Pro88Gln)	HOXA3 (P88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487806	NM_153631.3(HOXA3):c.256G>A (p.Gly86Arg)	HOXA3 (G86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106572	NM_153631.3(HOXA3):c.242A>G (p.Gln81Arg)	HOXA3 (Q81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306027	NM_153631.3(HOXA3):c.176G>A (p.Gly59Glu)	HOXA3 (G59E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472348	NM_153631.3(HOXA3):c.127G>A (p.Gly43Ser)	HOXA3 (G43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269745	NM_153631.3(HOXA3):c.110C>T (p.Ala37Val)	HOXA3 (A37V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1301789	NM_153631.3(HOXA3):c.-121+3042C>G	HOXA3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 1278464	NM_002141.5(HOXA4):c.*332G>C	HOXA3, HOXA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1270022	NM_002141.5(HOXA4):c.*254T>C	HOXA3, HOXA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1182927	NM_002141.5(HOXA4):c.*125G>A	HOXA3, HOXA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3106588	NM_002141.5(HOXA4):c.925C>A (p.His309Asn)	HOXA3, HOXA4 (H309N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406989	NM_002141.5(HOXA4):c.920A>G (p.His307Arg)	HOXA3, HOXA4 (H307R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286931	NM_002141.5(HOXA4):c.919C>T (p.His307Tyr)	HOXA3, HOXA4 (H307Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224222	NM_002141.5(HOXA4):c.911T>G (p.Leu304Arg)	HOXA3, HOXA4 (L304R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284637	NM_002141.5(HOXA4):c.896C>T (p.Thr299Ile)	HOXA3, HOXA4 (T299I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106587	NM_002141.5(HOXA4):c.887A>G (p.Lys296Arg)	HOXA3, HOXA4 (K296R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106586	NM_002141.5(HOXA4):c.880C>A (p.Pro294Thr)	HOXA3, HOXA4 (P294T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607924	NM_002141.5(HOXA4):c.845G>C (p.Arg282Pro)	HOXA3, HOXA4 (R282P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269018	NM_002141.5(HOXA4):c.823A>G (p.Lys275Glu)	HOXA3, HOXA4 (K275E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284634	NM_002141.5(HOXA4):c.800G>A (p.Arg267Lys)	HOXA3, HOXA4 (R267K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598345	NM_002141.5(HOXA4):c.773A>G (p.Gln258Arg)	HOXA3, HOXA4 (Q258R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106585	NM_002141.5(HOXA4):c.770G>A (p.Arg257His)	HOXA3, HOXA4 (R257H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681318	NM_002141.5(HOXA4):c.727C>A (p.Arg243=)	HOXA3, HOXA4	Single nucleotide variant (synonymous variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 1256657	NM_002141.5(HOXA4):c.714A>C (p.Arg238=)	HOXA4, HOXA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3284635	NM_002141.5(HOXA4):c.710A>G (p.Asn237Ser)	HOXA3, HOXA4 (N237S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106584	NM_002141.5(HOXA4):c.670C>T (p.Arg224Trp)	HOXA3, HOXA4 (R224W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106583	NM_002141.5(HOXA4):c.652T>C (p.Ser218Pro)	HOXA3, HOXA4 (S218P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363665	NM_002141.5(HOXA4):c.650G>A (p.Arg217His)	HOXA3, HOXA4 (R217H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223732	NM_002141.5(HOXA4):c.650G>T (p.Arg217Leu)	HOXA3, HOXA4 (R217L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106582	NM_002141.5(HOXA4):c.644C>G (p.Pro215Arg)	HOXA3, HOXA4 (P215R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1244153	NM_002141.5(HOXA4):c.617-179A>G	HOXA3, HOXA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266176	NM_002141.5(HOXA4):c.617-198T>G	HOXA3, HOXA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268576	NM_002141.5(HOXA4):c.616+120A>G	HOXA4, HOXA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3052573	NM_002141.5(HOXA4):c.559C>G (p.Leu187Val)	HOXA4, HOXA3 (L187V)	Single nucleotide variant (missense variant +1 more)	HOXA4-related disorder	GLikely benign
Select item 3053757	NM_002141.5(HOXA4):c.524G>A (p.Cys175Tyr)	HOXA3, HOXA4 (C175Y)	Single nucleotide variant (missense variant +1 more)	HOXA4-related disorder	GLikely benign
Select item 3284636	NM_002141.5(HOXA4):c.515C>T (p.Ala172Val)	HOXA3, HOXA4 (A172V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284638	NM_002141.5(HOXA4):c.448C>T (p.Pro150Ser)	HOXA3, HOXA4 (P150S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313365	NM_002141.5(HOXA4):c.425C>T (p.Pro142Leu)	HOXA3, HOXA4 (P142L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1231880	NM_002141.5(HOXA4):c.419T>C (p.Leu140Pro)	HOXA3, HOXA4 (L140P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3052841	NM_002141.5(HOXA4):c.414C>G (p.Pro138=)	HOXA3, HOXA4	Single nucleotide variant (synonymous variant +1 more)	HOXA4-related disorder	GLikely benign
Select item 2355884	NM_002141.5(HOXA4):c.376C>G (p.Pro126Ala)	HOXA3, HOXA4 (P126A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284639	NM_002141.5(HOXA4):c.374G>A (p.Gly125Asp)	HOXA3, HOXA4 (G125D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261982	NM_002141.5(HOXA4):c.374G>T (p.Gly125Val)	HOXA3, HOXA4 (G125V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331912	NM_002141.5(HOXA4):c.362C>A (p.Ala121Glu)	HOXA3, HOXA4 (A121E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489887	NM_002141.5(HOXA4):c.347C>T (p.Pro116Leu)	HOXA3, HOXA4 (P116L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657362	NM_002141.5(HOXA4):c.319G>A (p.Gly107Ser)	HOXA3, HOXA4 (G107S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3032651	NM_002141.5(HOXA4):c.285C>T (p.Ala95=)	HOXA3, HOXA4	Single nucleotide variant (synonymous variant +1 more)	HOXA4-related disorder	GLikely benign
Select item 2545210	NM_002141.5(HOXA4):c.280G>A (p.Gly94Arg)	HOXA3, HOXA4 (G94R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106581	NM_002141.5(HOXA4):c.274G>C (p.Ala92Pro)	HOXA3, HOXA4 (A92P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557867	NM_002141.5(HOXA4):c.268T>C (p.Tyr90His)	HOXA3, HOXA4 (Y90H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034411	NM_002141.5(HOXA4):c.243G>C (p.Glu81Asp)	HOXA3, HOXA4 (E81D)	Single nucleotide variant (missense variant +1 more)	HOXA4-related disorder	GLikely benign
Select item 2362069	NM_002141.5(HOXA4):c.217T>C (p.Tyr73His)	HOXA3, HOXA4 (Y73H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315380	NM_002141.5(HOXA4):c.215C>T (p.Ser72Phe)	HOXA3, HOXA4 (S72F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1269767	NM_002141.5(HOXA4):c.208A>C (p.Thr70Pro)	HOXA3, HOXA4 (T70P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1237183	NM_002141.5(HOXA4):c.194G>A (p.Gly65Asp)	HOXA3, HOXA4 (G65D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3284640	NM_002141.5(HOXA4):c.186C>A (p.His62Gln)	HOXA3, HOXA4 (H62Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657363	NM_002141.5(HOXA4):c.165G>T (p.Leu55=)	HOXA3, HOXA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3054235	NM_002141.5(HOXA4):c.162G>A (p.Pro54=)	HOXA3, HOXA4	Single nucleotide variant (synonymous variant +1 more)	HOXA4-related disorder	GLikely benign
Select item 3106580	NM_002141.5(HOXA4):c.154C>T (p.His52Tyr)	HOXA3, HOXA4 (H52Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346797	NM_002141.5(HOXA4):c.133C>G (p.Pro45Ala)	HOXA3, HOXA4 (P45A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607923	NM_002141.5(HOXA4):c.104G>A (p.Gly35Asp)	HOXA3, HOXA4 (G35D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657364	NM_002141.5(HOXA4):c.102C>A (p.Gly34=)	HOXA3, HOXA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance

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