ClinVar for Gene (Select 1602) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3079923	NM_080759.6(DACH1):c.527C>A (p.Pro176Gln)	DACH1 (P176Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079921	NM_080759.6(DACH1):c.326C>T (p.Ala109Val)	DACH1 (A109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079920	NM_080759.6(DACH1):c.32C>G (p.Thr11Ser)	DACH1 (T11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079919	NM_080759.6(DACH1):c.322C>G (p.Leu108Val)	DACH1 (L108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079918	NM_080759.6(DACH1):c.1696A>G (p.Ile566Val)	DACH1 (I418V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079917	NM_080759.6(DACH1):c.1562T>C (p.Ile521Thr)	DACH1 (I573T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079916	NM_080759.6(DACH1):c.1492G>A (p.Val498Ile)	DACH1 (V498I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079915	NM_080759.6(DACH1):c.1390G>A (p.Val464Met)	DACH1 (V516M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079914	NM_080759.6(DACH1):c.130A>G (p.Ile44Val)	DACH1 (I44V)	Single nucleotide variant (missense variant)	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 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 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 2685472	GRCh37/hg19 13q21.33-22.2(chr13:71119640-76667297)x1	BORA, COMMD6 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 2598553	NM_080759.6(DACH1):c.1597G>A (p.Ala533Thr)	DACH1 (A331T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548969	NM_080759.6(DACH1):c.1873A>G (p.Ile625Val)	DACH1 (I477V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531291	NM_080759.6(DACH1):c.338A>C (p.Asn113Thr)	DACH1 (N113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528044	NM_080759.6(DACH1):c.569T>C (p.Met190Thr)	DACH1 (M190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516550	NM_080759.6(DACH1):c.420C>G (p.Ser140Arg)	DACH1 (S140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455450	NM_080759.6(DACH1):c.256G>A (p.Gly86Ser)	DACH1 (G86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410234	NM_080759.6(DACH1):c.347G>C (p.Gly116Ala)	DACH1 (G116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395320	NM_080759.6(DACH1):c.1304G>A (p.Arg435His)	DACH1 (R435H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331957	NM_080759.6(DACH1):c.1698C>G (p.Ile566Met)	DACH1 (I364M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329947	NM_080759.6(DACH1):c.1805T>G (p.Phe602Cys)	DACH1 (F654C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324070	NM_080759.6(DACH1):c.1012A>G (p.Ile338Val)	DACH1 (I338V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287055	NM_080759.6(DACH1):c.1306G>T (p.Val436Phe)	DACH1 (V436F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285701	NM_080759.6(DACH1):c.191C>T (p.Ala64Val)	DACH1 (A64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281825	NM_080759.6(DACH1):c.47C>G (p.Pro16Arg)	DACH1 (P16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271950	NM_080759.6(DACH1):c.2117A>G (p.Tyr706Cys)	DACH1 (Y558C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266086	NM_080759.6(DACH1):c.886G>A (p.Val296Ile)	DACH1 (V296I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248641	NM_080759.6(DACH1):c.107C>T (p.Ala36Val)	DACH1 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246114	NM_080759.6(DACH1):c.524C>T (p.Thr175Ile)	DACH1 (T175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231884	NM_080759.6(DACH1):c.170C>G (p.Pro57Arg)	DACH1 (P57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220918	NM_080759.6(DACH1):c.958C>T (p.Pro320Ser)	DACH1 (P320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809491	GRCh37/hg19 13q21.33(chr13:71931899-72330708)x3	DACH1	Copy number gain	not provided	GUncertain significance
Select item 1807606	GRCh37/hg19 13q21.33(chr13:72143410-72359353)x1	DACH1	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 1710306	NM_080759.6(DACH1):c.563G>A (p.Cys188Tyr)	DACH1 (C188Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527780	GRCh37/hg19 13q21.33-22.1(chr13:69200998-75160653)	ATXN8OS, BORA +9 more	Copy number loss	not specified	GUncertain significance
Select item 1527778	GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)	ACOD1, ATXN8OS +29 more	Copy number loss	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ABCC4, ABHD13 +129 more	Copy number gain	not specified	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 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 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1291517	NM_080759.6(DACH1):c.220GGC[5] (p.Gly79_Gly81del)	DACH1	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 979377	GRCh37/hg19 13q21.33(chr13:71486446-72076934)x3	DACH1	Copy number gain	not provided	GLikely benign
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 815600	GRCh37/hg19 13q21.33-31.1(chr13:71502357-86571730)x1	KLF12, DIS3 +27 more	Copy number loss	not provided	GPathogenic
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 774219	NM_080759.6(DACH1):c.1125C>G (p.Val375=)	DACH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 688265	GRCh37/hg19 13q21.32-21.33(chr13:68155074-72073076)x1	ATXN8OS, DACH1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 685203	GRCh37/hg19 13q21.33(chr13:72104831-72679646)x1	DACH1	Copy number loss	not provided	GUncertain significance
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +211 more	Copy number gain	not provided	GPathogenic
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	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441662	GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4	ERCC5, F10 +125 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 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ALG11, ABCC4 +332 more	Copy number gain	See cases	GPathogenic
Select item 394318	GRCh37/hg19 13q21.33-31.1(chr13:72174742-82221361)x1	ACOD1, BORA +25 more	Copy number loss	See cases	GPathogenic
Select item 253533	GRCh37/hg19 13q21.33-31.2(chr13:72013791-88021559)x1	SLAIN1, POU4F1 +27 more	Copy number loss	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 218831	NM_080759.5(DACH1):c.219CGG[8](p.=)	DACH1	Deletion (no sequence alteration)	not specified	GUncertain significance
Select item 218830	NM_080759.6(DACH1):c.1722+6C>T	DACH1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	LOC130009739, LOC130009740 +992 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 152961	GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1	ACOD1, ATXN8OS +202 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 150124	GRCh38/hg38 13q21.31-22.1(chr13:64065900-73693578)x3	ATXN8OS, BORA +70 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009911, LOC130009912 +938 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	LINC00392, LINC00393 +1404 more	Copy number loss	See cases	GPathogenic
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	LOC130009913, LOC130009914 +733 more	Copy number loss	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +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 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	ACOD1, ATXN8OS +232 more	Copy number loss	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	LOC130009813, LOC130009814 +729 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ABCC4, ABHD13 +1268 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009962, LOC130009963 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130010180, LOC130010181 +1557 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	RBM26-AS1, RCBTB1 +1004 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic

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