ClinVar for Gene (Select 81550) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325110	NM_001146070.2(TDRD3):c.1908A>G (p.Ile636Met)	TDRD3 (I636M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325109	NM_001146070.2(TDRD3):c.250G>A (p.Asp84Asn)	TDRD3 (D84N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325108	NM_001146070.2(TDRD3):c.1849A>C (p.Lys617Gln)	TDRD3 (K524Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325107	NM_001146070.2(TDRD3):c.94A>G (p.Asn32Asp)	TDRD3 (N32D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325106	NM_001146070.2(TDRD3):c.801A>T (p.Leu267Phe)	TDRD3 (L174F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325105	NM_001146070.2(TDRD3):c.1915T>A (p.Ser639Thr)	TDRD3 (S639T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325104	NM_001146070.2(TDRD3):c.1736G>A (p.Arg579Gln)	TDRD3 (R579Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325103	NM_001146070.2(TDRD3):c.1258C>A (p.Gln420Lys)	TDRD3 (Q327K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175461	NM_001146070.2(TDRD3):c.82C>T (p.Pro28Ser)	TDRD3 (P28S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175460	NM_001146070.2(TDRD3):c.68C>G (p.Ala23Gly)	TDRD3 (A23G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175459	NM_001146070.2(TDRD3):c.557C>G (p.Pro186Arg)	TDRD3 (P93R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175458	NM_001146070.2(TDRD3):c.466C>A (p.His156Asn)	TDRD3 (H63N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175457	NM_001146070.2(TDRD3):c.313A>C (p.Ser105Arg)	TDRD3 (S105R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175456	NM_001146070.2(TDRD3):c.259G>C (p.Glu87Gln)	TDRD3 (E87Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175455	NM_001146070.2(TDRD3):c.2192G>A (p.Arg731Gln)	TDRD3 (R731Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175454	NM_001146070.2(TDRD3):c.2138A>G (p.Asp713Gly)	TDRD3 (D620G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175452	NM_001146070.2(TDRD3):c.155T>C (p.Phe52Ser)	TDRD3 (F52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175451	NM_001146070.2(TDRD3):c.1349G>A (p.Gly450Asp)	TDRD3 (G357D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175450	NM_001146070.2(TDRD3):c.1244G>A (p.Arg415Gln)	TDRD3 (R322Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175449	NM_001146070.2(TDRD3):c.1073C>A (p.Ala358Glu)	TDRD3 (A358E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175448	NM_001146070.2(TDRD3):c.1055A>G (p.Glu352Gly)	TDRD3 (E259G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175447	NM_001146070.2(TDRD3):c.1033G>A (p.Gly345Arg)	TDRD3 (G252R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063298	GRCh37/hg19 13q21.1-21.32(chr13:57279797-65861199)x1	DIAPH3, PCDH17 +7 more	Copy number loss	not specified	GUncertain significance
Select item 3063284	GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1	ACOD1, ATXN8OS +49 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	CCDC70, CCNA1 +119 more	Copy number loss	not provided	GPathogenic
Select item 2684702	GRCh37/hg19 13q21.1-21.2(chr13:59516323-61738095)x3	DIAPH3, TDRD3	Copy number gain	not provided	GUncertain significance
Select item 2595490	NM_001146070.2(TDRD3):c.936T>A (p.Asn312Lys)	TDRD3 (N219K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595335	NM_001146070.2(TDRD3):c.998T>C (p.Met333Thr)	TDRD3 (M333T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386141	NM_001146070.2(TDRD3):c.2156G>A (p.Arg719His)	TDRD3 (R626H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368613	NM_001146070.2(TDRD3):c.400G>A (p.Asp134Asn)	TDRD3 (D134N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362740	NM_001146070.2(TDRD3):c.1276C>G (p.Pro426Ala)	TDRD3 (P333A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340696	NM_001146070.2(TDRD3):c.1474A>C (p.Ser492Arg)	TDRD3 (S492R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331312	NM_001146070.2(TDRD3):c.1330G>A (p.Gly444Arg)	TDRD3 (G351R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311170	NM_001146070.2(TDRD3):c.1528G>C (p.Gly510Arg)	TDRD3 (G417R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292469	NM_001146070.2(TDRD3):c.2090A>G (p.Asn697Ser)	TDRD3 (N697S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281082	NM_001146070.2(TDRD3):c.1796G>A (p.Arg599Gln)	TDRD3 (R506Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264693	NM_001146070.2(TDRD3):c.385C>T (p.Leu129Phe)	TDRD3 (L129F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228616	NM_001146070.2(TDRD3):c.1597C>T (p.Arg533Cys)	TDRD3 (R440C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227811	NM_001146070.2(TDRD3):c.106A>G (p.Ile36Val)	TDRD3 (I36V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809408	GRCh37/hg19 13q21.1-21.31(chr13:56897737-64074025)x1	DIAPH3, PCDH17 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	ACOD1, AKAP11 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	CLN5, CNMD +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	MIR16-1, MLNR +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	DCT, DGKH +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1341055	GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1	ACOD1, ATXN8OS +35 more	Copy number loss	not provided	GPathogenic
Select item 1340140	GRCh37/hg19 13q21.2(chr13:60194034-61618898)x3	DIAPH3, TDRD3	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	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 816480	GRCh37/hg19 13q21.1-22.1(chr13:58432035-73649333)x3	ATXN8OS, BORA +10 more	Copy number gain	See cases	GUncertain significance
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	ABCC4, ABHD13 +142 more	Copy number loss	not provided	GPathogenic
Select item 815587	GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1	KLF5, KLHL1 +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 638128	GRCh37/hg19 13q14.3-21.31(chr13:54638436-63254336)x3	DIAPH3, PCDH17 +7 more	Copy number gain	See cases	GUncertain significance
Select item 625742	GRCh37/hg19 13q21.1-21.32(chr13:59424409-65723208)	DIAPH3, PCDH20 +1 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +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 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 443522	GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3	ABCC4, ACOD1 +60 more	Copy number gain	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	HTR2A, IFT88 +332 more	Copy number gain	See cases	GPathogenic
Select item 395478	GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1	ABCC4, ABHD13 +102 more	Copy number loss	See cases	GPathogenic
Select item 394565	GRCh37/hg19 13q21.1-21.33(chr13:56987542-69758302)x3	DIAPH3, PCDH17 +8 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	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 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 154393	GRCh38/hg38 13q21.1-21.31(chr13:55851510-63770251)x1	LINC00358, LINC00374 +50 more	Copy number loss	See cases	GUncertain significance
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	LOC124900143, LOC124900144 +266 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	AKAP11, ALG11 +612 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	DNAJC15, EBPL +938 more	Copy number gain	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 148225	GRCh38/hg38 13q21.2(chr13:60049295-60879301)x3	DIAPH3, DIAPH3-AS2 +13 more	Copy number gain	See cases	GLikely benign
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	ACOD1, ALG11 +513 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009906, LOC130009907 +733 more	Copy number loss	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LINC00434, LINC00437 +735 more	Copy number gain	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 145617	GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1	ACOD1, ATXN8OS +258 more	Copy number loss	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	LINC00561, LINC00562 +729 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	AKAP11, ALG11 +604 more	Copy number loss	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	LINC00550, LINC00552 +1268 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	ABCC4, ABHD13 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	SIAH3, SLAIN1 +1557 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	ACOD1, AKAP11 +1004 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic

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