2170[Gene ID] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 154651	GRCh38/hg38 1p35.2(chr1:30811959-31402772)x1	FABP3, LINC01778 +28 more	Copy number loss	See cases	GUncertain significance
Select item 154853	GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3	ADGRB2, COL16A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 3334141	NM_016505.4(ZCCHC17):c.700A>C (p.Lys234Gln)	FABP3, ZCCHC17 (K226Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091545	NM_004102.5(FABP3):c.395A>C (p.Glu132Ala)	FABP3 (E132A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 120321	NM_004102.5(FABP3):c.395del (p.Glu132fs)	FABP3 (E132fs +1 more)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 757142	NM_004102.5(FABP3):c.360C>T (p.His120=)	FABP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 100613	NM_004102.5(FABP3):c.349-14_349-13del	FABP3	Deletion (intron variant)	not provided	Gnot provided
Select item 97088	NM_004102.5(FABP3):c.349-19A>G	FABP3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 711838	NM_004102.5(FABP3):c.297C>T (p.Asp99=)	FABP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3277030	NM_004102.5(FABP3):c.295G>A (p.Asp99Asn)	FABP3 (D99N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 97087	NM_004102.5(FABP3):c.246+25del	FABP3	Deletion (intron variant)	not provided	Gnot provided
Select item 100612	NM_004102.5(FABP3):c.246+16_246+17del	FABP3	Deletion (intron variant)	not provided	Gnot provided
Select item 2618252	NM_004102.5(FABP3):c.187A>G (p.Ile63Val)	FABP3 (I74V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719242	NM_004102.5(FABP3):c.158A>T (p.Lys53Ile)	FABP3 (K64I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3277031	NM_004102.5(FABP3):c.53A>G (p.Asp18Gly)	FABP3 (D18G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610070	NM_004102.5(FABP3):c.35T>A (p.Val12Glu)	FABP3 (V12E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732211	NM_004102.5(FABP3):c.8A>G (p.Asp3Gly)	FABP3 (D3G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1340269	GRCh37/hg19 1p35.2(chr1:31766058-31921862)x1	FABP3, SERINC2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 29