ClinVar for Gene (Select 3218) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3106657	NM_024016.4(HOXB8):c.86C>G (p.Ala29Gly)	HOXB8 (A29G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106656	NM_024016.4(HOXB8):c.650A>C (p.Gln217Pro)	HOXB8 (Q217P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106655	NM_024016.4(HOXB8):c.628T>A (p.Phe210Ile)	HOXB8 (F210I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106654	NM_024016.4(HOXB8):c.437G>C (p.Arg146Pro)	HOXB8 (R146P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106653	NM_024016.4(HOXB8):c.416G>A (p.Arg139His)	HOXB8 (R139H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106652	NM_024016.4(HOXB8):c.244C>A (p.Pro82Thr)	HOXB8 (P82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106650	NM_024016.4(HOXB8):c.150C>A (p.His50Gln)	HOXB8 (H50Q)	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 2596896	NM_024016.4(HOXB8):c.704G>A (p.Gly235Asp)	HOXB8 (G235D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596751	NM_024016.4(HOXB8):c.165G>C (p.Gln55His)	HOXB8 (Q55H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398346	NM_024016.4(HOXB8):c.683C>T (p.Ala228Val)	HOXB8 (A228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266492	NM_024016.4(HOXB8):c.350G>A (p.Gly117Asp)	HOXB8 (G117D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259525	NM_024016.4(HOXB8):c.223G>A (p.Ala75Thr)	HOXB8 (A75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241271	NM_024016.4(HOXB8):c.428C>T (p.Ala143Val)	HOXB8 (A143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787459	NM_024016.4(HOXB8):c.673C>G (p.Leu225Val)	HOXB8 (L225V)	Single nucleotide variant (missense variant)	not provided	GBenign
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: 26