CCDC107[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 111

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	CCIN, SPATA31F1 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 144556	GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3	ALDH1B1, ANKRD18A +219 more	Copy number gain	See cases	GPathogenic
Select item 14208	NR_003051.4(RMRP):n.72A>G	CCDC107, RMRP	Single nucleotide variant (non-coding transcript variant)	Metaphyseal chondrodysplasia, McKusick type +4 more	GPathogenic/Likely pathogenic
Select item 1234446	NC_000009.12:g.35658334A>G	LOC130001714, RMRP +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2363015	NM_174923.3(CCDC107):c.7G>A (p.Gly3Ser)	CCDC107, LOC130001714 (G3S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460174	NM_174923.3(CCDC107):c.37C>A (p.Leu13Met)	CCDC107 (L13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324452	NM_174923.3(CCDC107):c.46G>C (p.Val16Leu)	CCDC107 (V16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401305	NM_174923.3(CCDC107):c.47T>C (p.Val16Ala)	CCDC107 (V16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245778	NM_174923.3(CCDC107):c.152G>A (p.Arg51Gln)	CCDC107 (R51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462318	NM_174923.3(CCDC107):c.154C>T (p.Pro52Ser)	CCDC107 (P52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138238	NM_174923.3(CCDC107):c.173G>C (p.Arg58Pro)	CCDC107 (R58P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285278	NM_174923.3(CCDC107):c.206G>A (p.Gly69Glu)	CCDC107 (G69E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533525	NM_174923.3(CCDC107):c.208G>T (p.Ala70Ser)	CCDC107 (A70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285280	NM_174923.3(CCDC107):c.208G>A (p.Ala70Thr)	CCDC107 (A70T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482328	NM_174923.3(CCDC107):c.211C>G (p.Leu71Val)	CCDC107 (L71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490447	NM_174923.3(CCDC107):c.336G>C (p.Gln112His)	ARHGEF39, CCDC107 (Q112H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399863	NM_174923.3(CCDC107):c.343C>G (p.Gln115Glu)	ARHGEF39, CCDC107 (Q115E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347105	NM_174923.3(CCDC107):c.353C>G (p.Ala118Gly)	ARHGEF39, CCDC107 (A118G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595112	NM_174923.3(CCDC107):c.406G>A (p.Glu136Lys)	ARHGEF39, CCDC107 (E136K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346680	NM_174923.3(CCDC107):c.409C>T (p.Arg137Cys)	ARHGEF39, CCDC107 (R137W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603885	NM_174923.3(CCDC107):c.418A>G (p.Thr140Ala)	ARHGEF39, CCDC107 (T140A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3138240	NM_174923.3(CCDC107):c.421C>G (p.Leu141Val)	ARHGEF39, CCDC107 (L141V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263771	NM_174923.3(CCDC107):c.466A>G (p.Ile156Val)	ARHGEF39, CCDC107 (I156V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263772	NM_174923.3(CCDC107):c.488G>T (p.Ser163Ile)	ARHGEF39, CCDC107 (S163I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392682	NM_174923.3(CCDC107):c.491A>G (p.Lys164Arg)	ARHGEF39, CCDC107 (K164R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259180	NM_174923.3(CCDC107):c.503A>C (p.Asp168Ala)	ARHGEF39, CCDC107 (D168A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615840	NM_174923.3(CCDC107):c.507G>A (p.Met169Ile)	ARHGEF39, CCDC107 (M169I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589957	NM_174923.3(CCDC107):c.508G>A (p.Glu170Lys)	ARHGEF39, CCDC107 (E170K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138241	NM_174923.3(CCDC107):c.520C>T (p.Pro174Ser)	ARHGEF39, CCDC107 (P174S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394946	NM_174923.3(CCDC107):c.533C>T (p.Ser178Leu)	ARHGEF39, CCDC107 (S178L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3263774	NM_174923.3(CCDC107):c.617C>G (p.Pro206Arg)	ARHGEF39, CCDC107 (P206R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138242	NM_174923.3(CCDC107):c.674C>T (p.Ala225Val)	ARHGEF39, CCDC107 (A225V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263770	NM_174923.3(CCDC107):c.749G>A (p.Arg250Gln)	ARHGEF39, CCDC107 (R250Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456822	NM_174923.3(CCDC107):c.790A>T (p.Ser264Cys)	ARHGEF39, CCDC107 (S237C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588135	NM_174923.3(CCDC107):c.837A>T (p.Gln279His)	ARHGEF39, CCDC107 (Q279H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1289970	NC_000009.12:g.35661946A>C	ARHGEF39, CCDC107 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	ANKRD18B, APTX +75 more	Duplication	not provided	GUncertain significance
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3242301	GRCh37/hg19 9p13.3-13.1(chr9:35495055-39184042)x1	ALDH1B1, ANKRD18A +45 more	Copy number loss	not provided	GPathogenic
Select item 3063115	GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	ALDH1B1, ANKRD18A +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2427794	NC_000009.11:g.(?_34370797)_(36276941_?)dup	RGP1, RMRP +51 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	OR13J1, OR2S2 +87 more	Duplication	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1210154	GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1	ARHGEF39, ATOSB +42 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1070621	NC_000009.11:g.(?_34459004)_(36276941_?)del	ARHGEF39, ARID3C +48 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 980343	GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3	ACO1, ANKRD18B +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 689135	GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3	ALDH1B1, ANKRD18A +74 more	Copy number gain	not provided	GPathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	CER1, CHMP5 +193 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	CNTNAP3B, CREB3 +204 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 584345	NC_000009.11:g.(?_34458984)_(36277059_?)dup	ARHGEF39, ARID3C +48 more	Duplication	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 583851	NC_000009.11:g.(?_34458984)_(35809462_?)del	PIGO, RGP1 +37 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	CNTNAP3, CNTNAP3B +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ATOSB, B4GALT1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	DMAC1, DMRT1 +194 more	Copy number gain	not provided	GPathogenic
Select item 559575	GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	ACER2, ACO1 +201 more	Copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus	GLikely pathogenic

<< First< Prev

Page of 2