79140[geneid] - ClinVar

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Items: 35

	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 3264182	NM_024296.5(CCDC28B):c.56A>C (p.Gln19Pro)	CCDC28B (Q19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1271446	NM_024296.5(CCDC28B):c.73C>T (p.Arg25Trp)	CCDC28B (R25W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3239304	NM_024296.5(CCDC28B):c.163A>G (p.Arg55Gly)	CCDC28B (R55G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1174385	NM_024296.5(CCDC28B):c.165-203C>A	CCDC28B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3139083	NM_024296.5(CCDC28B):c.175G>C (p.Glu59Gln)	CCDC28B (E59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356199	NM_024296.5(CCDC28B):c.218C>T (p.Ala73Val)	CCDC28B (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 373579	NM_024296.5(CCDC28B):c.281G>A (p.Gly94Glu)	CCDC28B (G94E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2407568	NM_024296.5(CCDC28B):c.317G>A (p.Arg106Gln)	CCDC28B (R106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1326	NM_024296.5(CCDC28B):c.330C>T (p.Phe110=)	CCDC28B	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GUncertain significance; risk factor
Select item 2618505	NM_024296.5(CCDC28B):c.332G>A (p.Gly111Glu)	CCDC28B (G111E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 96103	NM_024296.5(CCDC28B):c.336G>A (p.Lys112=)	CCDC28B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3139084	NM_024296.5(CCDC28B):c.392G>A (p.Arg131Gln)	CCDC28B (R131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784942	NM_024296.5(CCDC28B):c.462G>A (p.Glu154=)	CCDC28B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 281760	NM_024296.5(CCDC28B):c.463G>A (p.Gly155Arg)	CCDC28B (G155R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2334482	NM_024296.5(CCDC28B):c.478C>A (p.Gln160Lys)	CCDC28B (Q160K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231688	NM_024296.5(CCDC28B):c.500G>A (p.Arg167His)	CCDC28B (R167H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1694505	NM_024296.5(CCDC28B):c.548+115T>G	CCDC28B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3058799	NM_024296.5(CCDC28B):c.549-8G>C	CCDC28B	Single nucleotide variant (3 prime UTR variant +1 more)	CCDC28B-related disorder	GLikely benign
Select item 1253098	NC_000001.11:g.32205429C>T	CCDC28B	Single nucleotide variant	not provided	GBenign
Select item 1287136	NC_000001.11:g.32205464A>C	CCDC28B	Single nucleotide variant	not provided	GBenign
Select item 1265367	NC_000001.11:g.32205473G>A	CCDC28B	Single nucleotide variant	not provided	GBenign
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: 35