CCNDBP1[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 154069	GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)x1	ADAL, CCNDBP1 +18 more	Copy number loss	See cases	GPathogenic
Select item 3139908	NM_012142.5(CCNDBP1):c.20C>T (p.Pro7Leu)	CCNDBP1 (P7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366455	NM_012142.5(CCNDBP1):c.59A>G (p.Gln20Arg)	CCNDBP1 (Q20R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390744	NM_012142.5(CCNDBP1):c.115G>C (p.Glu39Gln)	CCNDBP1 (E39Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139906	NM_012142.5(CCNDBP1):c.128C>G (p.Thr43Ser)	CCNDBP1 (T43S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139907	NM_012142.5(CCNDBP1):c.181G>A (p.Val61Met)	CCNDBP1 (V61M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518860	NM_012142.5(CCNDBP1):c.208C>G (p.Leu70Val)	CCNDBP1 (L70V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139909	NM_012142.5(CCNDBP1):c.229C>T (p.Leu77Phe)	CCNDBP1 (L77F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292868	NM_012142.5(CCNDBP1):c.253A>G (p.Thr85Ala)	CCNDBP1 (T85A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139911	NM_012142.5(CCNDBP1):c.356G>A (p.Arg119Gln)	CCNDBP1 (R119Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365508	NM_012142.5(CCNDBP1):c.361G>A (p.Ala121Thr)	CCNDBP1 (A121T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391139	NM_012142.5(CCNDBP1):c.371A>G (p.Asp124Gly)	CCNDBP1 (D124G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344915	NM_012142.5(CCNDBP1):c.398T>C (p.Met133Thr)	CCNDBP1 (M133T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139912	NM_012142.5(CCNDBP1):c.464T>C (p.Val155Ala)	CCNDBP1 (V155A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139913	NM_012142.5(CCNDBP1):c.671G>A (p.Gly224Glu)	CCNDBP1 (G224E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532532	NM_012142.5(CCNDBP1):c.686A>G (p.Gln229Arg)	CCNDBP1 (Q229R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2594889	NM_012142.5(CCNDBP1):c.851T>A (p.Ile284Asn)	CCNDBP1 (I284N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139915	NM_012142.5(CCNDBP1):c.910G>A (p.Val304Met)	CCNDBP1 (V304M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464397	NM_012142.5(CCNDBP1):c.914G>A (p.Arg305Gln)	CCNDBP1 (R305Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139905	NM_012142.5(CCNDBP1):c.1031A>T (p.Asp344Val)	CCNDBP1 (D344V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2685511	GRCh37/hg19 15q15.2(chr15:43420602-43573814)x1	CCNDBP1, EPB42 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1526448	GRCh37/hg19 15q15.2-15.3(chr15:43268878-43744411)	ADAL, CCNDBP1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1341068	GRCh37/hg19 15q15.2-15.3(chr15:43215243-44632384)x1	ADAL, CATSPER2 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980033	GRCh37/hg19 15q15.2-15.3(chr15:43135272-43744542)x1	TGM7, TP53BP1 +10 more	Copy number loss	not provided	GLikely pathogenic
Select item 815709	GRCh37/hg19 15q15.2-15.3(chr15:43420601-44198616)x3	TGM5, PDIA3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 815707	GRCh37/hg19 15q15.2-15.3(chr15:43017718-43685171)x3	EPB42, TGM5 +10 more	Copy number gain	not provided	GUncertain significance
Select item 688815	GRCh37/hg19 15q15.2-15.3(chr15:43062580-43744411)x1	ADAL, CCNDBP1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 687806	GRCh37/hg19 15q15.2-15.3(chr15:43062580-43737484)x1	ADAL, CCNDBP1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 687568	GRCh37/hg19 15q15.2-15.3(chr15:43277078-43634358)x3	ADAL, CCNDBP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687483	GRCh37/hg19 15q15.2-15.3(chr15:43118272-43668969)x3	ADAL, CCNDBP1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 41