CCDC28B[gene] and "single gene"[properties] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

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Items: 21