CCDC7[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 146088	GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3	ANKRD30A, CCDC7 +119 more	Copy number gain	See cases	GPathogenic
Select item 2303916	NM_001395015.1(CCDC7):c.24G>T (p.Leu8Phe)	CCDC7 (L8F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303917	NM_001395015.1(CCDC7):c.25A>G (p.Thr9Ala)	CCDC7 (T9A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3139316	NM_001395015.1(CCDC7):c.35A>G (p.Asn12Ser)	CCDC7 (N12S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264273	NM_001395015.1(CCDC7):c.49G>A (p.Val17Ile)	CCDC7 (V17I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408460	NM_001395015.1(CCDC7):c.67A>C (p.Lys23Gln)	CCDC7 (K23Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264274	NM_001395015.1(CCDC7):c.80A>G (p.His27Arg)	CCDC7 (H27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464445	NM_001395015.1(CCDC7):c.98C>G (p.Pro33Arg)	CCDC7 (P33R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139315	NM_001395015.1(CCDC7):c.242A>G (p.Asp81Gly)	CCDC7 (D81G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517032	NM_001395015.1(CCDC7):c.305A>G (p.Tyr102Cys)	CCDC7 (Y102C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313027	NM_001395015.1(CCDC7):c.410C>T (p.Ser137Leu)	CCDC7 (S137L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385105	NM_001395015.1(CCDC7):c.434A>C (p.Glu145Ala)	CCDC7 (E145A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3264271	NM_001395015.1(CCDC7):c.447A>C (p.Glu149Asp)	CCDC7 (E149D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208180	NM_001395015.1(CCDC7):c.574A>G (p.Asn192Asp)	CCDC7 (N192D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139317	NM_001395015.1(CCDC7):c.625C>T (p.Arg209Cys)	CCDC7 (R209C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2375860	NM_001395015.1(CCDC7):c.652G>A (p.Val218Met)	CCDC7 (V218M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608003	NM_001395015.1(CCDC7):c.772A>G (p.Lys258Glu)	CCDC7 (K258E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255367	NM_001395015.1(CCDC7):c.778G>T (p.Val260Phe)	CCDC7 (V260F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351410	NM_001395015.1(CCDC7):c.833T>C (p.Met278Thr)	CCDC7 (M278T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608812	NM_001395015.1(CCDC7):c.925G>T (p.Asp309Tyr)	CCDC7 (D309Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2454512	NM_001395015.1(CCDC7):c.941C>T (p.Ser314Leu)	CCDC7 (S314L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589766	NM_001395015.1(CCDC7):c.1099G>C (p.Glu367Gln)	CCDC7 (E367Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264272	NM_001395015.1(CCDC7):c.1142C>T (p.Ala381Val)	CCDC7 (A381V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211901	NM_001395015.1(CCDC7):c.2297A>G (p.Glu766Gly)	CCDC7 (E766G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409130	NM_001395015.1(CCDC7):c.2395G>A (p.Val799Met)	CCDC7 (V799M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387787	NM_001395015.1(CCDC7):c.2476G>A (p.Gly826Ser)	CCDC7 (G826S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2397717	NM_001395015.1(CCDC7):c.2563C>T (p.Arg855Cys)	CCDC7 (R855C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395729	NM_001395015.1(CCDC7):c.2836G>C (p.Glu946Gln)	CCDC7 (E481Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248049	NM_001395015.1(CCDC7):c.2860G>A (p.Glu954Lys)	CCDC7 (E489K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236468	NM_001395015.1(CCDC7):c.3089G>T (p.Ser1030Ile)	CCDC7 (S1030I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406149	NM_001395015.1(CCDC7):c.3112C>A (p.Gln1038Lys)	CCDC7 (Q1038K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209236	NM_001395015.1(CCDC7):c.3438G>T (p.Lys1146Asn)	CCDC7 (K1146N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223768	NM_001395015.1(CCDC7):c.3567A>G (p.Ile1189Met)	CCDC7 (I1189M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640399	NM_001395015.1(CCDC7):c.3604+1G>C	CCDC7	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2384173	NM_001395015.1(CCDC7):c.3796G>T (p.Asp1266Tyr)	CCDC7 (D1266Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139314	NM_001395015.1(CCDC7):c.3823A>C (p.Ile1275Leu)	CCDC7 (I1275L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685372	GRCh37/hg19 10p11.22-11.21(chr10:32617120-36913676)x1	CCDC7, CCNY +8 more	Copy number loss	not provided	GUncertain significance
Select item 2684601	GRCh37/hg19 10p11.22(chr10:33097451-33388370)x3	CCDC7, ITGB1	Copy number gain	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1809381	GRCh37/hg19 10p11.22(chr10:32675281-32913940)x3	CCDC7	Copy number gain	not provided	GUncertain significance
Select item 1809376	GRCh37/hg19 10p11.22(chr10:32728348-32932673)x1	CCDC7	Copy number loss	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1328108	GRCh37/hg19 10p11.23-11.22(chr10:30624523-33688350)x1	ARHGAP12, CCDC7 +9 more	Copy number loss	not provided	GPathogenic
Select item 815332	GRCh37/hg19 10p11.22(chr10:33041909-33124061)x1	CCDC7	Copy number loss	not provided	GUncertain significance
Select item 815331	GRCh37/hg19 10p11.22(chr10:32952403-33032845)x1	CCDC7	Copy number loss	not provided	GUncertain significance
Select item 815330	GRCh37/hg19 10p11.22(chr10:32602050-32959065)x3	CCDC7, EPC1	Copy number gain	not provided	GUncertain significance
Select item 686447	GRCh37/hg19 10p11.22(chr10:33083542-33298983)x3	CCDC7, ITGB1	Copy number gain	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 226204	GRCh37/hg19 10p11.22(chr10:33086451-33279862)	ITGB1, CCDC7	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 221475	GRCh37/hg19 10p11.22-11.21(chr10:32323692-37520394)x3	CREM, CUL2 +10 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

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Items: 57