HOXB2[gene] - ClinVar

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Items: 40

	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 2352804	NM_002145.4(HOXB2):c.1009T>C (p.Ser337Pro)	HOXB2 (S337P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398563	NM_002145.4(HOXB2):c.926T>A (p.Phe309Tyr)	HOXB2 (F309Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398562	NM_002145.4(HOXB2):c.925T>A (p.Phe309Ile)	HOXB2 (F309I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473493	NM_002145.4(HOXB2):c.908T>C (p.Phe303Ser)	HOXB2 (F303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467660	NM_002145.4(HOXB2):c.898G>T (p.Asp300Tyr)	HOXB2 (D300Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377140	NM_002145.4(HOXB2):c.877G>C (p.Asp293His)	HOXB2 (D293H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389280	NM_002145.4(HOXB2):c.876A>C (p.Glu292Asp)	HOXB2 (E292D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594476	NM_002145.4(HOXB2):c.865C>T (p.Pro289Ser)	HOXB2 (P289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285721	NM_002145.4(HOXB2):c.847G>T (p.Gly283Cys)	HOXB2 (G283C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231601	NM_002145.4(HOXB2):c.817T>G (p.Ser273Ala)	HOXB2 (S273A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470592	NM_002145.4(HOXB2):c.797G>A (p.Arg266His)	HOXB2 (R266H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106619	NM_002145.4(HOXB2):c.793G>A (p.Val265Ile)	HOXB2 (V265I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459920	NM_002145.4(HOXB2):c.778C>A (p.Pro260Thr)	HOXB2 (P260T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106618	NM_002145.4(HOXB2):c.694C>G (p.Pro232Ala)	HOXB2 (P232A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285112	NM_002145.4(HOXB2):c.682C>G (p.Pro228Ala)	HOXB2 (P228A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304333	NM_002145.4(HOXB2):c.649G>C (p.Ala217Pro)	HOXB2 (A217P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300903	NM_002145.4(HOXB2):c.614G>A (p.Arg205Gln)	HOXB2 (R205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590116	NM_002145.4(HOXB2):c.613C>G (p.Arg205Gly)	HOXB2 (R205G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351790	NM_002145.4(HOXB2):c.599G>C (p.Arg200Pro)	HOXB2 (R200P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106617	NM_002145.4(HOXB2):c.365C>T (p.Pro122Leu)	HOXB-AS1, HOXB2 (P122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248996	NM_002145.4(HOXB2):c.335C>T (p.Thr112Met)	HOXB-AS1, HOXB2 (T112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284654	NM_002145.4(HOXB2):c.275C>T (p.Ala92Val)	HOXB-AS1, HOXB2 (A92V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273752	NM_002145.4(HOXB2):c.263C>T (p.Ala88Val)	HOXB-AS1, HOXB2 (A88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106616	NM_002145.4(HOXB2):c.221A>C (p.Asp74Ala)	HOXB-AS1, HOXB2 (D74A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540810	NM_002145.4(HOXB2):c.181T>C (p.Ser61Pro)	HOXB-AS1, HOXB2 (S61P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231213	NM_002145.4(HOXB2):c.178G>A (p.Ala60Thr)	HOXB-AS1, HOXB2 (A60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364443	NM_002145.4(HOXB2):c.155C>A (p.Thr52Asn)	HOXB-AS1, HOXB2 (T52N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350893	NM_002145.4(HOXB2):c.46C>T (p.Pro16Ser)	HOXB-AS1, HOXB2 (P16S)	Single nucleotide variant (missense variant)	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: 40