5111[HGNC] - ClinVar

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

Search results

Items: 49

	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 3106614	NM_002144.4(HOXB1):c.875C>T (p.Pro292Leu)	HOXB1 (P292L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 586032	NM_002144.4(HOXB1):c.871_872delinsAA (p.Ser291Asn)	HOXB1 (S291N)	Indel (missense variant)	not provided	GUncertain significance
Select item 3106613	NM_002144.4(HOXB1):c.834G>C (p.Glu278Asp)	HOXB1 (E278D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739228	NM_002144.4(HOXB1):c.834G>A (p.Glu278=)	HOXB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2471565	NM_002144.4(HOXB1):c.808C>T (p.Pro270Ser)	HOXB1 (P270S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1175019	NM_002144.4(HOXB1):c.794A>G (p.Glu265Gly)	HOXB1 (E265G)	Single nucleotide variant (missense variant)	Facial paresis, hereditary congenital, 3 +1 more	GBenign
Select item 635071	NM_002144.4(HOXB1):c.764G>A (p.Arg255Gln)	HOXB1 (R255Q)	Single nucleotide variant (missense variant)	Facial paresis, hereditary congenital, 3	GUncertain significance
Select item 2523417	NM_002144.4(HOXB1):c.728A>G (p.Asn243Ser)	HOXB1 (N243S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033574	NM_002144.4(HOXB1):c.714C>T (p.Ala238=)	HOXB1	Single nucleotide variant (synonymous variant)	HOXB1-related disorder	GLikely benign
Select item 701967	NM_002144.4(HOXB1):c.702G>A (p.Val234=)	HOXB1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2287665	NM_002144.4(HOXB1):c.691G>A (p.Ala231Thr)	HOXB1 (A231T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 495205	NM_002144.4(HOXB1):c.620G>A (p.Arg207His)	HOXB1 (R207H)	Single nucleotide variant (missense variant)	Facial paresis, hereditary congenital, 3	GPathogenic
Select item 35567	NM_002144.4(HOXB1):c.619C>T (p.Arg207Cys)	HOXB1 (R207C)	Single nucleotide variant (missense variant)	Facial paresis, hereditary congenital, 3	GPathogenic
Select item 2596971	NM_002144.4(HOXB1):c.607C>G (p.Pro203Ala)	HOXB1 (P203A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516834	NM_002144.4(HOXB1):c.578C>G (p.Ala193Gly)	HOXB1 (A193G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 703362	NM_002144.4(HOXB1):c.578-8G>A	HOXB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2551410	NM_002144.4(HOXB1):c.527C>A (p.Thr176Lys)	HOXB1 (T176K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106610	NM_002144.4(HOXB1):c.488A>T (p.Asp163Val)	HOXB1 (D163V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 800233	NM_002144.4(HOXB1):c.484G>A (p.Glu162Lys)	HOXB1 (E162K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3041381	NM_002144.4(HOXB1):c.462G>A (p.Pro154=)	HOXB1	Single nucleotide variant (synonymous variant)	HOXB1-related disorder	GLikely benign
Select item 1281602	NM_002144.4(HOXB1):c.450G>A (p.Ala150=)	HOXB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2237691	NM_002144.4(HOXB1):c.448G>A (p.Ala150Thr)	HOXB1 (A150T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265710	NM_002144.4(HOXB1):c.382G>A (p.Gly128Arg)	HOXB1 (G128R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553431	NM_002144.4(HOXB1):c.344G>T (p.Ser115Ile)	HOXB1 (S115I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1239766	NM_002144.4(HOXB1):c.309A>T (p.Gln103His)	HOXB1 (Q103H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 703028	NM_002144.4(HOXB1):c.283C>A (p.Pro95Thr)	HOXB1 (P95T)	Single nucleotide variant (missense variant)	Facial paresis, hereditary congenital, 3 +1 more	GBenign/Likely benign
Select item 702086	NM_002144.4(HOXB1):c.246G>A (p.Ser82=)	HOXB1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3106609	NM_002144.4(HOXB1):c.245C>T (p.Ser82Leu)	HOXB1 (S82L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354781	NM_002144.4(HOXB1):c.238G>A (p.Ala80Thr)	HOXB1 (A80T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1175111	NM_002144.4(HOXB1):c.237C>T (p.Ser79=)	HOXB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 286853	NM_002144.4(HOXB1):c.170T>A (p.Phe57Tyr)	HOXB1 (F57Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694850	NM_002144.4(HOXB1):c.156G>A (p.Leu52=)	HOXB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 702176	NM_002144.4(HOXB1):c.154C>T (p.Leu52=)	HOXB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 741290	NM_002144.4(HOXB1):c.153G>A (p.Gly51=)	HOXB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2557868	NM_002144.4(HOXB1):c.151G>C (p.Gly51Arg)	HOXB1 (G51R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475757	NM_002144.4(HOXB1):c.91T>C (p.Phe31Leu)	HOXB1 (F31L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 701835	NM_002144.4(HOXB1):c.65ACAGCGCCC[3] (p.His25_Ala27dup)	HOXB1	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 495206	NM_002144.4(HOXB1):c.66C>G (p.Tyr22Ter)	HOXB1 (Y22*)	Single nucleotide variant (nonsense)	Facial paresis, hereditary congenital, 3	GPathogenic
Select item 2681319	NM_002144.4(HOXB1):c.64T>C (p.Tyr22His)	HOXB1 (Y22H)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3106611	NM_002144.4(HOXB1):c.61G>A (p.Ala21Thr)	HOXB1 (A21T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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: 49