HOXB3[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 154833	GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1	ABI3, ATP5MC1 +99 more	Copy number loss	See cases	GPathogenic
Select item 155384	GRCh38/hg38 17q21.32-21.33(chr17:48450628-49552921)x3	ABI3, ATP5MC1 +92 more	Copy number gain	See cases	GUncertain significance
Select item 59588	GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)x1	ABI3, ATP5MC1 +87 more	Copy number loss	See cases	GPathogenic
Select item 3106625	NM_001384749.1(HOXB3):c.1228C>G (p.Leu410Val)	HOXB-AS1, HOXB3 (L278V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2321651	NM_001384749.1(HOXB3):c.1205A>C (p.Glu402Ala)	HOXB-AS1, HOXB3 (E329A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220169	NM_001384749.1(HOXB3):c.1198C>T (p.Pro400Ser)	HOXB3, HOXB-AS1 (P268S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515163	NM_001384749.1(HOXB3):c.1148A>G (p.Asn383Ser)	HOXB-AS1, HOXB3 (N310S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262855	NM_001384749.1(HOXB3):c.1134T>A (p.His378Gln)	HOXB-AS1, HOXB3 (H305Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106624	NM_001384749.1(HOXB3):c.1085T>G (p.Leu362Arg)	HOXB-AS1, HOXB3 (L230R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276061	NM_001384749.1(HOXB3):c.1072T>G (p.Tyr358Asp)	HOXB-AS1, HOXB3 (Y226D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335201	NM_001384749.1(HOXB3):c.1066G>A (p.Gly356Ser)	HOXB-AS1, HOXB3 (G224S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216195	NM_001384749.1(HOXB3):c.1031C>G (p.Pro344Arg)	HOXB-AS1, HOXB3 (P344R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106623	NM_001384749.1(HOXB3):c.1024G>A (p.Gly342Arg)	HOXB-AS1, HOXB3 (G210R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106621	NM_001384749.1(HOXB3):c.1016G>A (p.Gly339Asp)	HOXB-AS1, HOXB3 (G339D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227123	NM_001384749.1(HOXB3):c.1012G>A (p.Gly338Arg)	HOXB-AS1, HOXB3 (G338R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412424	NM_001384749.1(HOXB3):c.1006G>A (p.Ala336Thr)	HOXB-AS1, HOXB3 (A204T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106633	NM_001384749.1(HOXB3):c.988G>A (p.Glu330Lys)	HOXB-AS1, HOXB3 (E198K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233999	NM_001384749.1(HOXB3):c.968C>T (p.Pro323Leu)	HOXB-AS1, HOXB3 (P323L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026547	NM_001384749.1(HOXB3):c.962A>T (p.Tyr321Phe)	HOXB-AS1, HOXB3 (Y189F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2542603	NM_001384749.1(HOXB3):c.894C>G (p.His298Gln)	HOXB-AS1, HOXB3 (H298Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106632	NM_001384749.1(HOXB3):c.874C>A (p.Pro292Thr)	HOXB-AS1, HOXB3 (P160T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270550	NM_001384749.1(HOXB3):c.854G>A (p.Ser285Asn)	HOXB-AS1, HOXB3 (S153N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284655	NM_001384749.1(HOXB3):c.848C>T (p.Thr283Ile)	HOXB-AS1, HOXB3 (T283I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615868	NM_001384749.1(HOXB3):c.817G>A (p.Ala273Thr)	HOXB-AS1, HOXB3 (A141T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106631	NM_001384749.1(HOXB3):c.814A>C (p.Thr272Pro)	HOXB-AS1, HOXB3 (T140P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609549	NM_001384749.1(HOXB3):c.776C>T (p.Pro259Leu)	HOXB-AS1, HOXB3 (P259L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106630	NM_001384749.1(HOXB3):c.775C>T (p.Pro259Ser)	HOXB-AS1, HOXB3 (P127S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404561	NM_001384749.1(HOXB3):c.769G>T (p.Gly257Trp)	HOXB-AS1, HOXB3 (G257W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106629	NM_001384749.1(HOXB3):c.536A>G (p.Asp179Gly)	HOXB-AS1, HOXB3 (D106G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2550373	NM_001384749.1(HOXB3):c.524G>A (p.Gly175Asp)	HOXB-AS1, HOXB3 (G175D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2319078	NM_001384749.1(HOXB3):c.487G>C (p.Gly163Arg)	HOXB-AS1, HOXB3 (G163R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3067467	NM_001384749.1(HOXB3):c.471C>T (p.Gly157=)	HOXB-AS1, HOXB3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2319077	NM_001384749.1(HOXB3):c.458G>A (p.Cys153Tyr)	HOXB-AS1, HOXB3 (C153Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2531445	NM_001384749.1(HOXB3):c.443G>A (p.Gly148Asp)	HOXB3 (G148D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604817	NM_001384749.1(HOXB3):c.384G>C (p.Gln128His)	HOXB3 (Q55H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386556	NM_001384749.1(HOXB3):c.359G>A (p.Gly120Asp)	HOXB3 (G47D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256148	NM_001384749.1(HOXB3):c.348G>C (p.Lys116Asn)	HOXB3 (K43N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106628	NM_001384749.1(HOXB3):c.301A>T (p.Ser101Cys)	HOXB3 (S101C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106627	NM_001384749.1(HOXB3):c.290C>T (p.Thr97Ile)	HOXB3 (T97I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106626	NM_001384749.1(HOXB3):c.189T>A (p.His63Gln)	HOXB3 (H63Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3284656	NM_001384749.1(HOXB3):c.187C>T (p.His63Tyr)	HOXB3 (H63Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3106622	NM_001384749.1(HOXB3):c.101A>G (p.Gln34Arg)	HOXB3 (Q34R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247690	NM_001384749.1(HOXB3):c.98C>T (p.Pro33Leu)	HOXB3 (P33L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306419	NM_001384749.1(HOXB3):c.46G>A (p.Gly16Arg)	HOXB3 (G16R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620501	NM_001384749.1(HOXB3):c.22G>T (p.Asp8Tyr)	HOXB3 (D8Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284658	NM_024015.5(HOXB4):c.748G>T (p.Ala250Ser)	HOXB4, HOXB3 (A250S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558999	NM_024015.5(HOXB4):c.742C>G (p.Pro248Ala)	HOXB3, HOXB4 (P248A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526814	NM_024015.5(HOXB4):c.733A>G (p.Asn245Asp)	HOXB3, HOXB4 (N245D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284657	NM_024015.5(HOXB4):c.728G>C (p.Arg243Pro)	HOXB3, HOXB4 (R243P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290141	NM_024015.5(HOXB4):c.728G>A (p.Arg243Gln)	HOXB3, HOXB4 (R243Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314146	NM_024015.5(HOXB4):c.727C>T (p.Arg243Trp)	HOXB3, HOXB4 (R243W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106638	NM_024015.5(HOXB4):c.661C>T (p.His221Tyr)	HOXB3, HOXB4 (H221Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298902	NM_024015.5(HOXB4):c.455C>T (p.Thr152Met)	HOXB3, HOXB4 (T152M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378822	NM_024015.5(HOXB4):c.403G>T (p.Ala135Ser)	HOXB3, HOXB4 (A135S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106637	NM_024015.5(HOXB4):c.400T>A (p.Ser134Thr)	HOXB3, HOXB4 (S134T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241167	NM_024015.5(HOXB4):c.392C>T (p.Pro131Leu)	HOXB3, HOXB4 (P131L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106636	NM_024015.5(HOXB4):c.304C>T (p.Leu102Phe)	HOXB3, HOXB4 (L102F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607160	NM_024015.5(HOXB4):c.290C>T (p.Pro97Leu)	HOXB3, HOXB4 (P97L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301180	NM_024015.5(HOXB4):c.277G>C (p.Ala93Pro)	HOXB3, HOXB4 (A93P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284659	NM_024015.5(HOXB4):c.248C>T (p.Pro83Leu)	HOXB3, HOXB4 (P83L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269081	NM_024015.5(HOXB4):c.205C>T (p.Arg69Trp)	HOXB3, HOXB4 (R69W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287843	NM_024015.5(HOXB4):c.200C>T (p.Ala67Val)	HOXB3, HOXB4 (A67V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609864	NM_024015.5(HOXB4):c.184G>A (p.Val62Met)	HOXB3, HOXB4 (V62M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278450	NM_024015.5(HOXB4):c.176C>T (p.Ala59Val)	HOXB3, HOXB4 (A59V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339138	NM_024015.5(HOXB4):c.43C>T (p.Pro15Ser)	HOXB3, HOXB4 (P15S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218903	NM_024015.5(HOXB4):c.25A>C (p.Asn9His)	HOXB3, HOXB4 (N9H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475571	NM_024015.5(HOXB4):c.24C>G (p.Ile8Met)	HOXB3, HOXB4 (I8M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106635	NM_024015.5(HOXB4):c.22A>T (p.Ile8Phe)	HOXB3, HOXB4 (I8F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2684851	GRCh37/hg19 17q21.32(chr17:46612536-46845102)x3	HOXB13, HOXB2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 77