C2CD4B[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 996951	NC_000015.10:g.61919523_62253599dup	C2CD4A, C2CD4B +11 more	Duplication	See cases	GUncertain significance
Select item 2240917	NM_001007595.3(C2CD4B):c.1013C>T (p.Ala338Val)	C2CD4B (A338V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611093	NM_001007595.3(C2CD4B):c.982G>A (p.Glu328Lys)	C2CD4B (E328K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590514	NM_001007595.3(C2CD4B):c.974C>G (p.Ser325Trp)	C2CD4B (S325W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242653	NM_001007595.3(C2CD4B):c.970C>T (p.Leu324Phe)	C2CD4B (L324F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270508	NM_001007595.3(C2CD4B):c.960C>G (p.Cys320Trp)	C2CD4B (C320W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266871	NM_001007595.3(C2CD4B):c.931C>T (p.Arg311Cys)	C2CD4B (R311C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262473	NM_001007595.3(C2CD4B):c.926G>C (p.Arg309Pro)	C2CD4B (R309P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355194	NM_001007595.3(C2CD4B):c.910A>G (p.Ser304Gly)	C2CD4B (S304G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513502	NM_001007595.3(C2CD4B):c.844C>A (p.Pro282Thr)	C2CD4B (P282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262468	NM_001007595.3(C2CD4B):c.839C>T (p.Pro280Leu)	C2CD4B (P280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467491	NM_001007595.3(C2CD4B):c.812G>C (p.Arg271Pro)	C2CD4B (R271P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219284	NM_001007595.3(C2CD4B):c.758G>A (p.Arg253His)	C2CD4B (R253H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298698	NM_001007595.3(C2CD4B):c.727G>A (p.Val243Met)	C2CD4B (V243M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624023	NM_001007595.3(C2CD4B):c.722G>A (p.Gly241Asp)	C2CD4B (G241D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135894	NM_001007595.3(C2CD4B):c.677C>G (p.Pro226Arg)	C2CD4B (P226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135892	NM_001007595.3(C2CD4B):c.599G>T (p.Arg200Leu)	C2CD4B (R200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467986	NM_001007595.3(C2CD4B):c.592C>T (p.Arg198Cys)	C2CD4B (R198C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518729	NM_001007595.3(C2CD4B):c.587T>C (p.Leu196Pro)	C2CD4B (L196P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263781	NM_001007595.3(C2CD4B):c.569C>G (p.Ala190Gly)	C2CD4B (A190G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351207	NM_001007595.3(C2CD4B):c.535G>A (p.Val179Ile)	C2CD4B (V179I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262469	NM_001007595.3(C2CD4B):c.523C>A (p.Arg175Ser)	C2CD4B (R175S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354263	NM_001007595.3(C2CD4B):c.514C>T (p.Arg172Cys)	C2CD4B (R172C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409499	NM_001007595.3(C2CD4B):c.509G>T (p.Gly170Val)	C2CD4B (G170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135890	NM_001007595.3(C2CD4B):c.508G>C (p.Gly170Arg)	C2CD4B (G170R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257828	NM_001007595.3(C2CD4B):c.494A>C (p.Asp165Ala)	C2CD4B (D165A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245307	NM_001007595.3(C2CD4B):c.491A>C (p.Gln164Pro)	C2CD4B (Q164P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262472	NM_001007595.3(C2CD4B):c.424A>C (p.Thr142Pro)	C2CD4B (T142P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295102	NM_001007595.3(C2CD4B):c.424A>G (p.Thr142Ala)	C2CD4B (T142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389430	NM_001007595.3(C2CD4B):c.416C>T (p.Pro139Leu)	C2CD4B (P139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510019	NM_001007595.3(C2CD4B):c.410A>G (p.Asp137Gly)	C2CD4B (D137G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135889	NM_001007595.3(C2CD4B):c.384C>A (p.His128Gln)	C2CD4B (H128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219452	NM_001007595.3(C2CD4B):c.383A>G (p.His128Arg)	C2CD4B (H128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624207	NM_001007595.3(C2CD4B):c.373C>T (p.Pro125Ser)	C2CD4B (P125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345373	NM_001007595.3(C2CD4B):c.368C>T (p.Pro123Leu)	C2CD4B (P123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135888	NM_001007595.3(C2CD4B):c.353G>A (p.Gly118Glu)	C2CD4B (G118E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552095	NM_001007595.3(C2CD4B):c.331C>T (p.Arg111Cys)	C2CD4B (R111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262471	NM_001007595.3(C2CD4B):c.314A>G (p.Glu105Gly)	C2CD4B (E105G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355536	NM_001007595.3(C2CD4B):c.313G>C (p.Glu105Gln)	C2CD4B (E105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242707	NM_001007595.3(C2CD4B):c.270C>G (p.His90Gln)	C2CD4B (H90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540287	NM_001007595.3(C2CD4B):c.266C>G (p.Pro89Arg)	C2CD4B (P89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211512	NM_001007595.3(C2CD4B):c.211G>A (p.Glu71Lys)	C2CD4B (E71K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468065	NM_001007595.3(C2CD4B):c.163C>T (p.Pro55Ser)	C2CD4B (P55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135886	NM_001007595.3(C2CD4B):c.160G>A (p.Val54Met)	C2CD4B (V54M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135885	NM_001007595.3(C2CD4B):c.113G>T (p.Arg38Leu)	C2CD4B (R38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383955	NM_001007595.3(C2CD4B):c.95A>T (p.Glu32Val)	C2CD4B (E32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135897	NM_001007595.3(C2CD4B):c.91C>T (p.Pro31Ser)	C2CD4B (P31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262470	NM_001007595.3(C2CD4B):c.77C>T (p.Thr26Met)	C2CD4B (T26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135896	NM_001007595.3(C2CD4B):c.73C>T (p.Leu25Phe)	C2CD4B (L25F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256945	NM_001007595.3(C2CD4B):c.71T>G (p.Val24Gly)	C2CD4B (V24G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135895	NM_001007595.3(C2CD4B):c.67A>G (p.Lys23Glu)	C2CD4B (K23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135893	NM_001007595.3(C2CD4B):c.63C>A (p.Phe21Leu)	C2CD4B (F21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243698	NC_000015.9:g.(?_62244003)_(63358098_?)dup	C2CD4A, C2CD4B +3 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2424797	NC_000015.9:g.(?_62146656)_(64747263_?)del	APH1B, C2CD4A +19 more	Deletion	not provided	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1448059	NC_000015.9:g.(?_62146656)_(63358098_?)dup	C2CD4A, C2CD4B +3 more	Duplication	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 974762	NC_000015.9:g.62409198_62521004dup	C2CD4B	Duplication	Megacolon	GUncertain significance
Select item 815727	GRCh37/hg19 15q22.2(chr15:62398532-62626845)x1	C2CD4B	Copy number loss	not provided	GUncertain significance
Select item 685013	GRCh37/hg19 15q22.2(chr15:62218567-62549882)x4	C2CD4A, C2CD4B +1 more	Copy number gain	not provided	GUncertain significance
Select item 684877	GRCh37/hg19 15q22.2(chr15:62218567-62549882)x4	C2CD4B, C2CD4A +1 more	Copy number gain	not provided	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 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)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 394344	GRCh37/hg19 15q22.2(chr15:62242775-62501666)x3	C2CD4A, C2CD4B +1 more	Copy number gain	See cases	GUncertain significance
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic

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Items: 71