ClinVar for Gene (Select 3215) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284664	NM_002147.4(HOXB5):c.377C>A (p.Ser126Tyr)	HOXB-AS3, HOXB5 (S126Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284663	NM_002147.4(HOXB5):c.761A>T (p.Lys254Ile)	HOXB-AS3, HOXB5 (K254I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284662	NM_002147.4(HOXB5):c.94G>T (p.Gly32Cys)	HOXB-AS3, HOXB5 (G32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284661	NM_002147.4(HOXB5):c.208G>A (p.Gly70Ser)	HOXB-AS3, HOXB5 (G70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284660	NM_002147.4(HOXB5):c.341C>T (p.Ala114Val)	HOXB-AS3, HOXB5 (A114V)	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 3106641	NM_002147.4(HOXB5):c.556A>C (p.Ser186Arg)	HOXB-AS3, HOXB5 (S186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106640	NM_002147.4(HOXB5):c.424C>G (p.Pro142Ala)	HOXB-AS3, HOXB5 (P142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106639	NM_002147.4(HOXB5):c.213G>C (p.Glu71Asp)	HOXB-AS3, HOXB5 (E71D)	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 2400321	NM_002147.4(HOXB5):c.34C>A (p.Arg12Ser)	HOXB-AS3, HOXB5 (R12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389869	NM_002147.4(HOXB5):c.242A>G (p.Gln81Arg)	HOXB-AS3, HOXB5 +1 more (Q81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347729	NM_002147.4(HOXB5):c.79G>A (p.Gly27Ser)	HOXB-AS3, HOXB5 (G27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231991	NM_002147.4(HOXB5):c.355G>T (p.Asp119Tyr)	HOXB-AS3, HOXB5 (D119Y)	Single nucleotide variant (missense variant)	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: 24