CCDC70[gene] - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 more	Copy number loss	See cases	GPathogenic
Select item 58255	GRCh38/hg38 13q14.3(chr13:51717666-52258617)x3	ALG11, ATP7B +35 more	Copy number gain	See cases	GUncertain significance
Select item 2371667	NM_031290.4(CCDC70):c.-24C>T	CCDC70, TMEM272	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2374610	NM_031290.4(CCDC70):c.-14G>A	CCDC70, TMEM272	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2618141	NM_031290.4(CCDC70):c.13A>G (p.Lys5Glu)	CCDC70, TMEM272 (K5E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365826	NM_031290.4(CCDC70):c.13A>C (p.Lys5Gln)	CCDC70, TMEM272 (K5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139325	NM_031290.4(CCDC70):c.14A>G (p.Lys5Arg)	CCDC70, TMEM272 (K5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139327	NM_031290.4(CCDC70):c.56C>T (p.Ala19Val)	CCDC70, TMEM272 (A19V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2306682	NM_031290.4(CCDC70):c.73A>T (p.Ile25Phe)	CCDC70, TMEM272 (I25F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379297	NM_031290.4(CCDC70):c.76C>T (p.Arg26Cys)	CCDC70, TMEM272 (R26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264275	NM_031290.4(CCDC70):c.91A>G (p.Met31Val)	CCDC70, TMEM272 (M31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321829	NM_031290.4(CCDC70):c.115G>T (p.Ala39Ser)	CCDC70, TMEM272 (A39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139320	NM_031290.4(CCDC70):c.135A>C (p.Lys45Asn)	CCDC70, TMEM272 (K45N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139321	NM_031290.4(CCDC70):c.182T>G (p.Phe61Cys)	CCDC70, TMEM272 (F61C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139322	NM_031290.4(CCDC70):c.287T>G (p.Phe96Cys)	CCDC70, TMEM272 (F96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139323	NM_031290.4(CCDC70):c.325A>G (p.Thr109Ala)	CCDC70, TMEM272 (T109A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394345	NM_031290.4(CCDC70):c.344G>A (p.Arg115His)	CCDC70, TMEM272 (R115H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219461	NM_031290.4(CCDC70):c.363T>A (p.Asp121Glu)	CCDC70, TMEM272 (D121E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264276	NM_031290.4(CCDC70):c.385A>T (p.Asn129Tyr)	CCDC70, TMEM272 (N129Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139324	NM_031290.4(CCDC70):c.407G>A (p.Arg136Gln)	CCDC70, TMEM272 (R136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466125	NM_031290.4(CCDC70):c.412C>T (p.Leu138Phe)	CCDC70, TMEM272 (L138F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210853	NM_031290.4(CCDC70):c.463G>C (p.Glu155Gln)	CCDC70, TMEM272 (E155Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139326	NM_031290.4(CCDC70):c.479T>C (p.Leu160Pro)	CCDC70, TMEM272 (L160P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256948	NM_031290.4(CCDC70):c.570G>T (p.Glu190Asp)	CCDC70, TMEM272 (E190D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353534	NM_031290.4(CCDC70):c.575A>G (p.Asn192Ser)	CCDC70, TMEM272 (N192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491102	NM_031290.4(CCDC70):c.622G>A (p.Ala208Thr)	CCDC70, TMEM272 (A208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308528	NM_031290.4(CCDC70):c.637C>T (p.Arg213Cys)	CCDC70, TMEM272 (R213C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206164	NM_031290.4(CCDC70):c.655C>G (p.Arg219Gly)	CCDC70, TMEM272 (R219G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148943	GRCh37/hg19 13q14.2-14.3(chr13:50181731-54350061)x1	ALG11, ARL11 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063283	GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1	ALG11, ARL11 +77 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
Select item 2685465	GRCh37/hg19 13q14.3(chr13:51768837-54900165)x1	ALG11, ATP7B +18 more	Copy number loss	not provided	GUncertain significance
Select item 2422253	NC_000013.10:g.(?_51484213)_(52602726_?)dup	ALG11, ATP7B +8 more	Duplication	Wilson disease	GUncertain significance
Select item 1808975	GRCh37/hg19 13q14.3(chr13:52024106-52496419)x3	CCDC70, DHRS12 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527772	GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137)	ALG11, ARL11 +64 more	Copy number loss	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	KLHL1, LPAR6 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	AKAP11, ALG11 +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340816	GRCh37/hg19 13q14.3(chr13:52024030-52496419)x3	CCDC70, DHRS12 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1328110	GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1	ATP7B, WDFY2 +70 more	Copy number loss	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 988918	GRCh37/hg19 13q14.3-21.1(chr13:52170957-57713087)x3	ALG11, ATP7B +15 more	Copy number gain	not provided	GUncertain significance
Select item 979369	GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3	ALG11, ARL11 +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 815587	GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1	DIS3, KLF5 +62 more	Copy number loss	not provided	GPathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 685867	GRCh37/hg19 13q14.2-21.2(chr13:49586017-61311845)x1	DLEU2, DLEU7 +45 more	Copy number loss	not provided	GUncertain significance
Select item 565290	Single allele	ALG11, ARL11 +50 more	Deletion	Intellectual disability	GLikely pathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 564080	GRCh37/hg19 13q14.3-21.32(chr13:51939350-66854666)x3	ALG11, ATP7B +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441094	GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1	ALG11, ATP7B +18 more	Copy number loss	not provided	Gnot provided
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 91