1282[geneid] - ClinVar - NCBI

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	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 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 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 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 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 150125	GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	LOC130010039, LOC130010040 +369 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 147642	GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	ABHD13, ADPRHL1 +360 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 148757	GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1	LOC121468007, LOC121838584 +339 more	Copy number loss	See cases	GPathogenic
Select item 155034	GRCh38/hg38 13q33.1-34(chr13:103914488-110857896)x3	LINC00399, LINC00443 +152 more	Copy number gain	See cases	GUncertain significance
Select item 57709	GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 57710	GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 155263	GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1	ABHD13, ADPRHL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 155489	GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3	ABHD13, ADPRHL1 +325 more	Copy number gain	See cases	GUncertain significance
Select item 151756	GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1	LOC116268457, LOC121468007 +321 more	Copy number loss	See cases	GPathogenic
Select item 57712	GRCh38/hg38 13q33.2-34(chr13:106043720-110366226)x1	ABHD13, ARGLU1 +90 more	Copy number loss	See cases	GPathogenic
Select item 57471	GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1	ABHD13, ADPRHL1 +318 more	Copy number loss	See cases	GPathogenic
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 148614	GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1	ABHD13, ADPRHL1 +302 more	Copy number loss	See cases	GPathogenic
Select item 152966	GRCh38/hg38 13q33.3-34(chr13:107708655-112101112)x1	LOC130010121, LOC130010122 +156 more	Copy number loss	See cases	GPathogenic
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 33799	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 56998	GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1	ADPRHL1, ANKRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	COL4A1, COL4A2 +261 more	Deletion	Factor X deficiency +1 more	GPathogenic
Select item 1707468	Single allele	COL4A1, COL4A2 +27 more	Duplication	not specified	GUncertain significance
Select item 147436	GRCh38/hg38 13q34(chr13:109862835-110921746)x3	ANKRD10, ANKRD10-IT1 +73 more	Copy number gain	See cases	GUncertain significance
Select item 3032836	NC_000013.11:g.110145211C>T	COL4A1	Single nucleotide variant	COL4A1-related disorder	GLikely benign
Select item 369034	NC_000013.11:g.110148959A>G	COL4A1	Single nucleotide variant	not provided +3 more	GLikely benign
Select item 311003	NM_001845.6(COL4A1):c.*1099G>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Porencephalic cyst +2 more	GConflicting classifications of pathogenicity
Select item 311004	NM_001845.6(COL4A1):c.*1039A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GUncertain significance
Select item 311005	NM_001845.6(COL4A1):c.*1014C>T	COL4A1	Single nucleotide variant (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GBenign/Likely benign
Select item 881414	NM_001845.6(COL4A1):c.*995C>T	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GUncertain significance
Select item 311006	NM_001845.6(COL4A1):c.*975A>C	COL4A1	Single nucleotide variant (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GBenign/Likely benign
Select item 881849	NM_001845.6(COL4A1):c.*952A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GUncertain significance
Select item 311007	NM_001845.6(COL4A1):c.*887del	COL4A1	Deletion (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GUncertain significance
Select item 881850	NM_001845.6(COL4A1):c.*838T>C	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GBenign
Select item 311008	NM_001845.6(COL4A1):c.*766G>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GBenign/Likely benign
Select item 311009	NM_001845.6(COL4A1):c.*634AT[8]	COL4A1	Microsatellite (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GUncertain significance
Select item 311010	NM_001845.6(COL4A1):c.*609T>C	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GBenign/Likely benign
Select item 311011	NM_001845.6(COL4A1):c.*587C>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +3 more	GBenign
Select item 311012	NM_001845.6(COL4A1):c.*531T>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Porencephalic cyst +2 more	GUncertain significance
Select item 883019	NM_001845.6(COL4A1):c.*530A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GUncertain significance
Select item 311013	NM_001845.6(COL4A1):c.*510A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GUncertain significance
Select item 311014	NM_001845.6(COL4A1):c.*477G>T	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GUncertain significance
Select item 883801	NM_001845.6(COL4A1):c.*433T>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GUncertain significance
Select item 311015	NM_001845.6(COL4A1):c.*265A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GConflicting classifications of pathogenicity
Select item 311016	NM_001845.6(COL4A1):c.*176A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GBenign/Likely benign
Select item 311017	NM_001845.6(COL4A1):c.*137G>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +4 more	GUncertain significance
Select item 1301522	NM_001845.6(COL4A1):c.*36T>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Vascular dementia	GUncertain significance
Select item 2071537	NM_001845.6(COL4A1):c.*35del	COL4A1	Deletion (3 prime UTR variant)	not provided	GUncertain significance
Select item 689432	NM_001845.6(COL4A1):c.*35C>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	GPathogenic
Select item 689435	NM_001845.6(COL4A1):c.*32G>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 689434	NM_001845.6(COL4A1):c.*32G>T	COL4A1	Single nucleotide variant (3 prime UTR variant)	not provided	GPathogenic
Select item 2827593	NM_001845.6(COL4A1):c.*31G>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1511223	NM_001845.6(COL4A1):c.*31G>C	COL4A1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 689433	NM_001845.6(COL4A1):c.*31G>T	COL4A1	Single nucleotide variant (3 prime UTR variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	GPathogenic
Select item 311018	NM_001845.6(COL4A1):c.*6C>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GUncertain significance
Select item 2717568	NM_001845.6(COL4A1):c.5007A>G (p.Thr1669=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1506586	NM_001845.6(COL4A1):c.5000GAA[1] (p.Arg1668del)	COL4A1 (R1668del)	Microsatellite (inframe_deletion)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GUncertain significance
Select item 2785505	NM_001845.6(COL4A1):c.5003G>C (p.Arg1668Thr)	COL4A1 (R1668T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663470	NM_001845.6(COL4A1):c.5003G>A (p.Arg1668Lys)	COL4A1 (R1668K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140032	NM_001845.6(COL4A1):c.4998G>A (p.Met1666Ile)	COL4A1 (M1666I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451373	NM_001845.6(COL4A1):c.4996A>G (p.Met1666Val)	COL4A1 (M1666V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197934	NM_001845.6(COL4A1):c.4994G>A (p.Cys1665Tyr)	COL4A1 (C1665Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1392217	NM_001845.6(COL4A1):c.4984T>C (p.Cys1662Arg)	COL4A1 (C1662R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934969	NM_001845.6(COL4A1):c.4982G>A (p.Arg1661His)	COL4A1 (R1661H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521435	NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys)	COL4A1 (R1661C)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GConflicting classifications of pathogenicity
Select item 2968969	NM_001845.6(COL4A1):c.4975G>C (p.Val1659Leu)	COL4A1 (V1659L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163782	NM_001845.6(COL4A1):c.4975G>A (p.Val1659Ile)	COL4A1 (V1659I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111854	NM_001845.6(COL4A1):c.4974C>T (p.His1658=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1714718	NM_001845.6(COL4A1):c.4972C>T (p.His1658Tyr)	COL4A1 (H1658Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923553	NM_001845.6(COL4A1):c.4971G>T (p.Thr1657=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 881471	NM_001845.6(COL4A1):c.4971G>A (p.Thr1657=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +5 more	GBenign/Likely benign
Select item 1316354	NM_001845.6(COL4A1):c.4970C>T (p.Thr1657Met)	COL4A1 (T1657M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1495201	NM_001845.6(COL4A1):c.4968C>T (p.Arg1656=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1004088	NM_001845.6(COL4A1):c.4967G>A (p.Arg1656His)	COL4A1 (R1656H)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to +5 more	GUncertain significance
Select item 2442573	NM_001845.6(COL4A1):c.4966C>A (p.Arg1656Ser)	COL4A1 (R1656S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319044	NM_001845.6(COL4A1):c.4966C>T (p.Arg1656Cys)	COL4A1 (R1656C)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +5 more	GUncertain significance
Select item 1317097	NM_001845.6(COL4A1):c.4961A>T (p.Glu1654Val)	COL4A1 (E1654V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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