ClinVar for Gene (Select 3219) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284669	NM_024017.5(HOXB9):c.530C>A (p.Ala177Asp)	HOXB9 (A177D)	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 3106663	NM_024017.5(HOXB9):c.406T>C (p.Tyr136His)	HOXB9 (Y136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106662	NM_024017.5(HOXB9):c.391C>G (p.Gln131Glu)	HOXB9 (Q131E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106661	NM_024017.5(HOXB9):c.37G>A (p.Asp13Asn)	HOXB9 (D13N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106660	NM_024017.5(HOXB9):c.338A>T (p.Gln113Leu)	HOXB9 (Q113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106659	NM_024017.5(HOXB9):c.311G>T (p.Arg104Leu)	HOXB9 (R104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684851	GRCh37/hg19 17q21.32(chr17:46612536-46845102)x3	HOXB13, HOXB2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 2608415	NM_024017.5(HOXB9):c.624G>A (p.Met208Ile)	HOXB9 (M208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546159	NM_024017.5(HOXB9):c.25A>G (p.Ser9Gly)	HOXB9 (S9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531845	NM_024017.5(HOXB9):c.418A>T (p.Thr140Ser)	HOXB9 (T140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406628	NM_024017.5(HOXB9):c.55G>C (p.Glu19Gln)	HOXB9 (E19Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360469	NM_024017.5(HOXB9):c.469G>C (p.Asp157His)	HOXB9 (D157H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335349	NM_024017.5(HOXB9):c.646C>A (p.His216Asn)	HOXB9 (H216N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317005	NM_024017.5(HOXB9):c.11C>T (p.Ser4Phe)	HOXB9 (S4F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313191	NM_024017.5(HOXB9):c.245T>A (p.Ile82Asn)	HOXB9 (I82N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236173	NM_024017.5(HOXB9):c.187T>G (p.Trp63Gly)	HOXB9 (W63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229682	NM_024017.5(HOXB9):c.674G>A (p.Ser225Asn)	HOXB9 (S225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221018	NM_024017.5(HOXB9):c.502G>C (p.Glu168Gln)	HOXB9 (E168Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785904	NM_024017.5(HOXB9):c.232T>C (p.Tyr78His)	HOXB9 (Y78H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785823	NM_024017.5(HOXB9):c.663C>T (p.Leu221=)	HOXB9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729820	NM_024017.5(HOXB9):c.466G>A (p.Gly156Arg)	HOXB9 (G156R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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
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 154833	GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1	ABI3, ATP5MC1 +99 more	Copy number loss	See cases	GPathogenic
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 59588	GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)x1	ABI3, ATP5MC1 +87 more	Copy number loss	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

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Links from Gene

Items: 32