"PreventionGenetics, part of Exact Sciences"[submitter] AND "CCBE1"[ge - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 892061	NM_133459.4(CCBE1):c.*20G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	CCBE1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 327701	NM_133459.4(CCBE1):c.*19C>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 262349	NM_133459.4(CCBE1):c.*14C>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GBenign
Select item 262357	NM_133459.4(CCBE1):c.988-10A>G	CCBE1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1662720	NM_133459.4(CCBE1):c.942T>C (p.Asp314=)	CCBE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 890299	NM_133459.4(CCBE1):c.902G>A (p.Arg301Gln)	CCBE1 (R301Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1031117	NM_133459.4(CCBE1):c.845G>A (p.Arg282Gln)	CCBE1 (R282Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 735571	NM_133459.4(CCBE1):c.843A>T (p.Pro281=)	CCBE1	Single nucleotide variant (synonymous variant)	CCBE1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 262356	NM_133459.4(CCBE1):c.837C>T (p.Pro279=)	CCBE1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 262355	NM_133459.4(CCBE1):c.775+12A>G	CCBE1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1623570	NM_133459.4(CCBE1):c.655-7C>T	CCBE1	Single nucleotide variant (intron variant)	CCBE1-related condition +1 more	GLikely benign
Select item 327705	NM_133459.4(CCBE1):c.654+10G>A	CCBE1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1424638	NM_133459.4(CCBE1):c.654+4C>G	CCBE1	Single nucleotide variant (intron variant)	CCBE1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1665458	NM_133459.4(CCBE1):c.633C>T (p.Thr211=)	CCBE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 890865	NM_133459.4(CCBE1):c.557A>G (p.His186Arg)	CCBE1 (H186R)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 3016744	NM_133459.4(CCBE1):c.501G>A (p.Arg167=)	CCBE1	Single nucleotide variant (synonymous variant)	CCBE1-related condition +1 more	GLikely benign
Select item 262354	NM_133459.4(CCBE1):c.499C>T (p.Arg167Trp)	CCBE1 (R167W)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 449	NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)	CCBE1 (R158C)	Single nucleotide variant (missense variant)	CCBE1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 327707	NM_133459.4(CCBE1):c.431C>T (p.Thr144Met)	CCBE1 (T144M)	Single nucleotide variant (missense variant)	CCBE1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 262353	NM_133459.4(CCBE1):c.401-29T>C	CCBE1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1591353	NM_133459.4(CCBE1):c.282C>T (p.Ala94=)	CCBE1	Single nucleotide variant (synonymous variant)	CCBE1-related condition +1 more	GLikely benign
Select item 262352	NM_133459.4(CCBE1):c.266-30T>C	CCBE1	Single nucleotide variant (intron variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +2 more	GBenign
Select item 262351	NM_133459.4(CCBE1):c.265+28G>C	CCBE1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 262350	NM_133459.4(CCBE1):c.265+26C>A	CCBE1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 327708	NM_133459.4(CCBE1):c.265+8A>C	CCBE1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2632934	NM_133459.4(CCBE1):c.253T>C (p.Cys85Arg)	CCBE1 (C85R)	Single nucleotide variant (missense variant)	CCBE1-related condition	GUncertain significance
Select item 2634351	NM_133459.4(CCBE1):c.190G>A (p.Gly64Ser)	CCBE1 (G64S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1563115	NM_133459.4(CCBE1):c.189A>G (p.Ser63=)	CCBE1	Single nucleotide variant (synonymous variant)	CCBE1-related condition +1 more	GLikely benign
Select item 888656	NM_133459.4(CCBE1):c.131+10G>A	CCBE1	Single nucleotide variant (intron variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 3052598	NM_133459.4(CCBE1):c.131+5G>A	CCBE1	Single nucleotide variant (intron variant)	CCBE1-related condition	GLikely benign
Select item 2633073	NM_133459.4(CCBE1):c.94_95dup (p.Trp33fs)	CCBE1 (W33fs)	Microsatellite (frameshift variant)	CCBE1-related condition	GUncertain significance

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Items: 31