5120[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 32

	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 2229682	NM_024017.5(HOXB9):c.674G>A (p.Ser225Asn)	HOXB9 (S225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785823	NM_024017.5(HOXB9):c.663C>T (p.Leu221=)	HOXB9	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2608415	NM_024017.5(HOXB9):c.624G>A (p.Met208Ile)	HOXB9 (M208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2221018	NM_024017.5(HOXB9):c.502G>C (p.Glu168Gln)	HOXB9 (E168Q)	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 729820	NM_024017.5(HOXB9):c.466G>A (p.Gly156Arg)	HOXB9 (G156R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 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 2313191	NM_024017.5(HOXB9):c.245T>A (p.Ile82Asn)	HOXB9 (I82N)	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 2236173	NM_024017.5(HOXB9):c.187T>G (p.Trp63Gly)	HOXB9 (W63G)	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 3106661	NM_024017.5(HOXB9):c.37G>A (p.Asp13Asn)	HOXB9 (D13N)	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 2317005	NM_024017.5(HOXB9):c.11C>T (p.Ser4Phe)	HOXB9 (S4F)	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32