3621[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 153

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 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 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 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
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 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 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 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 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 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 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 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 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	ABCC4, ABHD13 +1288 more	Copy number gain	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 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	ABCC4, ABHD13 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	ABCC4, ABHD13 +705 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	LOC132090867, MBNL2 +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	LOC130009970, LOC130009971 +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 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	LOC130010152, LOC130010153 +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	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 147436	GRCh38/hg38 13q34(chr13:109862835-110921746)x3	ANKRD10, ANKRD10-IT1 +73 more	Copy number gain	See cases	GUncertain significance
Select item 2292208	NM_198219.3(ING1):c.136+1168G>T	ING1 (V4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618560	NM_198219.3(ING1):c.136+1267C>A	ING1, LOC130010137 (L37I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328563	NM_198219.3(ING1):c.136+1304G>A	ING1, LOC130010137 (G49D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558261	NM_198219.3(ING1):c.136+1349C>G	ING1, LOC130010137 (P64R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279610	NM_198219.3(ING1):c.136+1388C>T	ING1, LOC130010137 (S77F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310491	NM_198219.3(ING1):c.136+1424C>T	ING1 (P89L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225909	NM_198219.3(ING1):c.136+1435A>C	ING1 (K93Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109646	NM_198219.3(ING1):c.136+1439C>G	ING1 (S94W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784274	NM_198219.3(ING1):c.136+1486dup	ING1 (R110fs)	Duplication (frameshift variant +1 more)	not provided	GBenign
Select item 2589864	NM_198219.3(ING1):c.136+1501C>T	ING1 (H115Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525190	NM_198219.3(ING1):c.136+1516T>C	ING1 (W120R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2229210	NM_198219.3(ING1):c.136+1516T>G	ING1 (W120G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483770	NM_198219.3(ING1):c.136+1522G>A	ING1 (V122M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109647	NM_198219.3(ING1):c.136+1534C>T	ING1 (P126S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460239	NM_198219.3(ING1):c.136+1552C>T	ING1 (P132S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109648	NM_198219.3(ING1):c.136+1567C>T	ING1 (R137C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109649	NM_198219.3(ING1):c.136+1570G>A	ING1 (G138R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109650	NM_198219.3(ING1):c.136+1585G>T	ING1 (A143S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250138	NM_198219.3(ING1):c.136+1597G>C	ING1 (G147R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516837	NM_198219.3(ING1):c.136+1606G>C	ING1 (A150P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456490	NM_198219.3(ING1):c.136+1627T>C	ING1 (S157P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523201	NM_198219.3(ING1):c.136+1668G>T	ING1 (Q170H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243560	NM_198219.3(ING1):c.136+1705C>T	ING1 (R183C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109651	NM_198219.3(ING1):c.136+1714C>T	ING1 (P186S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109652	NM_198219.3(ING1):c.324C>G (p.Ser108Arg)	ING1 (S91R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109653	NM_198219.3(ING1):c.379G>A (p.Gly127Ser)	ING1 (G127S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266520	NM_198219.3(ING1):c.419C>T (p.Ala140Val)	ING1 (A283V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321446	NM_198219.3(ING1):c.422A>T (p.Gln141Leu)	ING1 (Q141L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460637	NM_198219.3(ING1):c.429C>A (p.Asp143Glu)	ING1 (D74E +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2601578	NM_198219.3(ING1):c.440G>C (p.Ser147Thr)	ING1 (S103T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246338	NM_198219.3(ING1):c.451C>G (p.Arg151Gly)	ING1 (R151G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725870	NM_198219.3(ING1):c.453G>A (p.Arg151=)	ING1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2473404	NM_198219.3(ING1):c.490A>G (p.Ser164Gly)	ING1 (S120G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618637	NM_198219.3(ING1):c.505G>A (p.Asp169Asn)	ING1 (D152N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109645	NM_198219.3(ING1):c.572A>G (p.Lys191Arg)	ING1 (K122R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8069	NM_198219.3(ING1):c.575C>A (p.Ala192Asp)	ING1 (A192D +4 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck	GPathogenic
Select item 2311157	NM_198219.3(ING1):c.620C>G (p.Pro207Arg)	ING1 (P207R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8067	NM_198219.3(ING1):c.644G>C (p.Cys215Ser)	ING1 (C215S +4 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck	GPathogenic
Select item 8068	NM_198219.3(ING1):c.647A>G (p.Asn216Ser)	ING1 (N216S +4 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck	GPathogenic
Select item 2466630	NM_198219.3(ING1):c.830A>C (p.Tyr277Ser)	ING1 (Y208S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2