ClinVar for Gene (Select 83643) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264183	NM_031455.4(CCDC3):c.678G>T (p.Arg226Ser)	CCDC3 (R226S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139090	NM_031455.4(CCDC3):c.749C>T (p.Ala250Val)	CCDC3 (A125V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139089	NM_031455.4(CCDC3):c.685C>T (p.Arg229Trp)	CCDC3 (R104W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139088	NM_031455.4(CCDC3):c.56C>T (p.Ala19Val)	CCDC3 (A19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139087	NM_031455.4(CCDC3):c.349G>A (p.Asp117Asn)	CCDC3 (D117N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139086	NM_031455.4(CCDC3):c.166C>T (p.Pro56Ser)	CCDC3 (P56S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684595	GRCh37/hg19 10p14-13(chr10:10175327-13529362)x3	BEND7, CAMK1D +15 more	Copy number gain	not provided	GUncertain significance
Select item 2617440	NM_031455.4(CCDC3):c.771C>G (p.Ile257Met)	CCDC3 (I257M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588731	NM_031455.4(CCDC3):c.341T>G (p.Val114Gly)	CCDC3 (V114G)	Single nucleotide variant (missense variant +1 more)	not specified	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 2525395	NM_031455.4(CCDC3):c.158C>T (p.Pro53Leu)	CCDC3 (P53L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519121	NM_031455.4(CCDC3):c.797C>G (p.Pro266Arg)	CCDC3 (P141R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478767	NM_031455.4(CCDC3):c.772A>C (p.Asn258His)	CCDC3 (N133H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466725	NM_031455.4(CCDC3):c.637C>T (p.Arg213Cys)	CCDC3 (R213C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396005	NM_031455.4(CCDC3):c.98A>C (p.Glu33Ala)	CCDC3 (E33A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389647	NM_031455.4(CCDC3):c.86G>A (p.Arg29Lys)	CCDC3 (R29K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380565	NM_031455.4(CCDC3):c.509C>T (p.Ala170Val)	CCDC3 (A170V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362379	NM_031455.4(CCDC3):c.41G>A (p.Gly14Asp)	CCDC3 (G14D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353620	NM_031455.4(CCDC3):c.43C>G (p.Pro15Ala)	CCDC3 (P15A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343949	NM_031455.4(CCDC3):c.800A>C (p.Tyr267Ser)	CCDC3 (Y142S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314712	NM_031455.4(CCDC3):c.43C>A (p.Pro15Thr)	CCDC3 (P15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273127	NM_031455.4(CCDC3):c.668A>T (p.Lys223Met)	CCDC3 (K223M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273126	NM_031455.4(CCDC3):c.667A>G (p.Lys223Glu)	CCDC3 (K223E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244433	NM_031455.4(CCDC3):c.307G>T (p.Gly103Cys)	CCDC3 (G103C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221703	NM_031455.4(CCDC3):c.707G>T (p.Arg236Leu)	CCDC3 (R111L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209625	NM_031455.4(CCDC3):c.516C>A (p.Phe172Leu)	CCDC3 (F47L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807660	GRCh37/hg19 10p13(chr10:12810570-13149670)x3	CAMK1D, CCDC3 +1 more	Copy number gain	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 1447308	NC_000010.10:g.(?_12111033)_(13342042_?)dup	CAMK1D, CCDC3 +8 more	Duplication	not provided	GUncertain significance
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 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 929362	GRCh37/hg19 10p13(chr10:12805430-13306566)x3	CAMK1D, CCDC3 +3 more	Copy number gain	See cases	GUncertain significance
Select item 815318	GRCh37/hg19 10p14-13(chr10:12165983-12957560)x3	CCDC3, CAMK1D +3 more	Copy number gain	not provided	GUncertain significance
Select item 786779	NM_031455.4(CCDC3):c.799del (p.Tyr267fs)	CCDC3 (Y142fs +1 more)	Deletion (frameshift variant)	not provided	GBenign
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 687035	GRCh37/hg19 10p13(chr10:12961671-13207227)x1	CCDC3, MCM10 +1 more	Copy number loss	not provided	GUncertain significance
Select item 619294	NM_031455.4(CCDC3):c.550-478A>G	CCDC3	Single nucleotide variant (intron variant)	Lip and oral cavity carcinoma	Gassociation not found
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 584050	NC_000010.10:g.(?_12833157)_(13178866_?)del	CAMK1D, CCDC3 +1 more	Deletion	Primary open angle glaucoma +2 more	GPathogenic
Select item 563781	GRCh37/hg19 10p13(chr10:12802555-14847149)x1	OPTN, BEND7 +9 more	Copy number loss	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 394167	GRCh37/hg19 10p13(chr10:12821353-13275585)x3	CAMK1D, CCDC3 +3 more	Copy number gain	See cases	GLikely benign
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 157154	NM_001282658.2(CCDC3):c.-1-17946_-1-16075del	CCDC3, LOC107275223	Deletion (intron variant)	Normal pregnancy	Gnot provided
Select item 157153	NM_001282658.2(CCDC3):c.-1-19898_-1-16075del	LOC107275223, CCDC3	Deletion (intron variant)	Small for gestational age	Gnot provided
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
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 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 144993	GRCh38/hg38 10p13(chr10:12333253-13948472)x1	BEND7, BEND7-DT +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 58