ClinVar for Gene (Select 3214) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 2684851	GRCh37/hg19 17q21.32(chr17:46612536-46845102)x3	HOXB13, HOXB2 +12 more	Copy number gain	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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: 35