CCDC102B[gene] and "single gene"[properties] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2340409	NM_024781.3(CCDC102B):c.23G>A (p.Arg8Gln)	CCDC102B (R8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263760	NM_024781.3(CCDC102B):c.43A>C (p.Ile15Leu)	CCDC102B (I15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513681	NM_024781.3(CCDC102B):c.77G>A (p.Arg26His)	CCDC102B (R26H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 784380	NM_024781.3(CCDC102B):c.78C>T (p.Arg26=)	CCDC102B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2355011	NM_024781.3(CCDC102B):c.82G>A (p.Asp28Asn)	CCDC102B (D28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219792	NM_024781.3(CCDC102B):c.118T>C (p.Cys40Arg)	CCDC102B (C40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263761	NM_024781.3(CCDC102B):c.158C>T (p.Ala53Val)	CCDC102B (A53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619865	NM_024781.3(CCDC102B):c.182C>T (p.Ser61Leu)	CCDC102B (S61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648798	NM_024781.3(CCDC102B):c.207T>C (p.Ile69=)	CCDC102B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3138215	NM_024781.3(CCDC102B):c.208T>C (p.Cys70Arg)	CCDC102B (C70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138216	NM_024781.3(CCDC102B):c.220C>T (p.Arg74Cys)	CCDC102B (R74C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261388	NM_024781.3(CCDC102B):c.254C>G (p.Ala85Gly)	CCDC102B (A85G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592462	NM_024781.3(CCDC102B):c.272C>G (p.Thr91Ser)	CCDC102B (T91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263758	NM_024781.3(CCDC102B):c.299C>T (p.Ala100Val)	CCDC102B (A100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138217	NM_024781.3(CCDC102B):c.334G>A (p.Glu112Lys)	CCDC102B (E112K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138218	NM_024781.3(CCDC102B):c.496G>A (p.Glu166Lys)	CCDC102B (E166K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138219	NM_024781.3(CCDC102B):c.511A>G (p.Thr171Ala)	CCDC102B (T171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138220	NM_024781.3(CCDC102B):c.560A>G (p.Tyr187Cys)	CCDC102B (Y187C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138222	NM_024781.3(CCDC102B):c.584C>T (p.Thr195Ile)	CCDC102B (T195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138223	NM_024781.3(CCDC102B):c.619G>T (p.Val207Phe)	CCDC102B (V207F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378912	NM_024781.3(CCDC102B):c.651G>A (p.Met217Ile)	CCDC102B (M217I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138224	NM_024781.3(CCDC102B):c.655C>A (p.Pro219Thr)	CCDC102B (P219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138225	NM_024781.3(CCDC102B):c.710C>T (p.Thr237Met)	CCDC102B (T237M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 768940	NM_024781.3(CCDC102B):c.710C>G (p.Thr237Arg)	CCDC102B (T237R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2273631	NM_024781.3(CCDC102B):c.730A>G (p.Lys244Glu)	CCDC102B (K244E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472390	NM_024781.3(CCDC102B):c.745C>T (p.Pro249Ser)	CCDC102B (P249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263759	NM_024781.3(CCDC102B):c.779T>C (p.Leu260Ser)	CCDC102B (L260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138226	NM_024781.3(CCDC102B):c.794A>G (p.Asp265Gly)	CCDC102B (D265G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263763	NM_024781.3(CCDC102B):c.865G>A (p.Glu289Lys)	CCDC102B (E289K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261389	NM_024781.3(CCDC102B):c.868T>C (p.Ser290Pro)	CCDC102B (S290P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648799	NM_024781.3(CCDC102B):c.870G>A (p.Ser290=)	CCDC102B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2514816	NM_024781.3(CCDC102B):c.896A>G (p.Tyr299Cys)	CCDC102B (Y299C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263762	NM_024781.3(CCDC102B):c.998A>T (p.Glu333Val)	CCDC102B (E333V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714751	NM_024781.3(CCDC102B):c.1072G>A (p.Glu358Lys)	CCDC102B (E358K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2210114	NM_024781.3(CCDC102B):c.1082C>T (p.Ser361Leu)	CCDC102B (S361L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400787	NM_024781.3(CCDC102B):c.1103T>C (p.Ile368Thr)	CCDC102B (I368T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708614	NM_024781.3(CCDC102B):c.1109A>G (p.Glu370Gly)	CCDC102B (E370G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2535028	NM_024781.3(CCDC102B):c.1111A>G (p.Arg371Gly)	CCDC102B (R371G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367496	NM_024781.3(CCDC102B):c.1129G>A (p.Glu377Lys)	CCDC102B (E377K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529624	NM_024781.3(CCDC102B):c.1163A>C (p.Lys388Thr)	CCDC102B (K388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304190	NM_024781.3(CCDC102B):c.1240A>G (p.Ile414Val)	CCDC102B (I414V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138214	NM_024781.3(CCDC102B):c.1258A>C (p.Asn420His)	CCDC102B (N420H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768941	NM_024781.3(CCDC102B):c.1275C>A (p.Asn425Lys)	CCDC102B (N425K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2216668	NM_024781.3(CCDC102B):c.1391G>A (p.Arg464Gln)	CCDC102B (R464Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2208903	NM_024781.3(CCDC102B):c.1391G>T (p.Arg464Leu)	CCDC102B (R464L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374057	NM_024781.3(CCDC102B):c.1474T>G (p.Ser492Ala)	CCDC102B (S492A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359167	NM_024781.3(CCDC102B):c.1510G>A (p.Glu504Lys)	CCDC102B (E504K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816030	GRCh37/hg19 18q22.1(chr18:66586144-66713131)x1	CCDC102B	Copy number loss	not provided	GLikely benign

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Items: 48