3272[HGNC] - ClinVar

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Items: 21

	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 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 2318931	NM_003757.4(EIF3I):c.265C>T (p.Leu89Phe)	EIF3I (L89F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233990	NM_003757.4(EIF3I):c.389C>G (p.Pro130Arg)	EIF3I (P130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529553	NM_003757.4(EIF3I):c.478T>C (p.Cys160Arg)	EIF3I (C160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545033	NM_003757.4(EIF3I):c.610G>T (p.Val204Leu)	EIF3I (V204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087964	NM_003757.4(EIF3I):c.616G>A (p.Ala206Thr)	EIF3I (A206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1327736	NM_003757.4(EIF3I):c.803+10A>G	EIF3I	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3275013	NM_003757.4(EIF3I):c.893A>G (p.Lys298Arg)	EIF3I (K298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526651	GRCh37/hg19 1p35.1(chr1:32462251-32721488)	TMEM234, TMEM39B +9 more	Copy number gain	not specified	GUncertain significance
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 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 686004	GRCh37/hg19 1p35.2-35.1(chr1:32139063-32940848)x4	ADGRB2, BSDC1 +19 more	Copy number gain	not provided	GUncertain significance
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 565084	GRCh37/hg19 1p35.1(chr1:32608682-32953541)x3	FAM229A, DCDC2B +13 more	Copy number gain	not provided	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: 21