8660[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 212

<< First< Prev

Page of 3

	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	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 1707468	Single allele	COL4A1, COL4A2 +27 more	Duplication	not specified	GUncertain significance
Select item 1049070	NM_003749.3(IRS2):c.3983A>G (p.His1328Arg)	IRS2 (H1328R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2523723	NM_003749.3(IRS2):c.3934G>A (p.Gly1312Ser)	IRS2 (G1312S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376703	NM_003749.3(IRS2):c.3925C>T (p.Pro1309Ser)	IRS2 (P1309S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286568	NM_003749.3(IRS2):c.3820C>A (p.Pro1274Thr)	IRS2 (P1274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286567	NM_003749.3(IRS2):c.3818C>T (p.Pro1273Leu)	IRS2 (P1273L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785451	NM_003749.3(IRS2):c.3788G>T (p.Gly1263Val)	IRS2 (G1263V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3110929	NM_003749.3(IRS2):c.3758A>G (p.Tyr1253Cys)	IRS2 (Y1253C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472993	NM_003749.3(IRS2):c.3672G>C (p.Gln1224His)	IRS2 (Q1224H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290027	NM_003749.3(IRS2):c.3665C>T (p.Pro1222Leu)	IRS2 (P1222L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748901	NM_003749.3(IRS2):c.3663C>G (p.Thr1221=)	IRS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2543017	NM_003749.3(IRS2):c.3650G>A (p.Gly1217Asp)	IRS2 (G1217D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286572	NM_003749.3(IRS2):c.3638T>C (p.Leu1213Ser)	IRS2 (L1213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041555	NM_003749.3(IRS2):c.3612A>C (p.Pro1204=)	IRS2	Single nucleotide variant (synonymous variant)	IRS2-related disorder	GBenign
Select item 736994	NM_003749.3(IRS2):c.3579C>T (p.Gly1193=)	IRS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2311075	NM_003749.3(IRS2):c.3565G>A (p.Gly1189Ser)	IRS2 (G1189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246928	NM_003749.3(IRS2):c.3524C>T (p.Ala1175Val)	IRS2 (A1175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294157	NM_003749.3(IRS2):c.3452C>T (p.Thr1151Ile)	IRS2 (T1151I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292013	NM_003749.3(IRS2):c.3327C>A (p.Ser1109Arg)	IRS2 (S1109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385837	NM_003749.3(IRS2):c.3272C>A (p.Pro1091Gln)	IRS2 (P1091Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340878	NM_003749.3(IRS2):c.3214T>C (p.Tyr1072His)	IRS2 (Y1072H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8820	NM_003749.3(IRS2):c.3170G>A (p.Gly1057Asp)	IRS2 (G1057D)	Single nucleotide variant (missense variant)	IRS2-related disorder +1 more	GBenign; risk factor
Select item 3110928	NM_003749.3(IRS2):c.3146C>T (p.Ala1049Val)	IRS2 (A1049V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286565	NM_003749.3(IRS2):c.3136C>T (p.Pro1046Ser)	IRS2 (P1046S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110927	NM_003749.3(IRS2):c.3125A>C (p.Tyr1042Ser)	IRS2 (Y1042S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110926	NM_003749.3(IRS2):c.3109G>A (p.Ala1037Thr)	IRS2 (A1037T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768633	NM_003749.3(IRS2):c.3099A>G (p.Pro1033=)	IRS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2307514	NM_003749.3(IRS2):c.3097C>G (p.Pro1033Ala)	IRS2 (P1033A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770424	NM_003749.3(IRS2):c.3093G>A (p.Pro1031=)	IRS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2281732	NM_003749.3(IRS2):c.3062C>G (p.Pro1021Arg)	IRS2 (P1021R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3377760	NM_003749.3(IRS2):c.3028G>A (p.Ala1010Thr)	IRS2 (A1010T)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus	GUncertain significance
Select item 722534	NM_003749.3(IRS2):c.2955C>T (p.Ser985=)	IRS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643933	NM_003749.3(IRS2):c.2850C>A (p.Ser950=)	IRS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3286570	NM_003749.3(IRS2):c.2827G>C (p.Ala943Pro)	IRS2 (A943P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717659	NM_003749.3(IRS2):c.2645G>C (p.Gly882Ala)	IRS2 (G882A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 717660	NM_003749.3(IRS2):c.2635G>A (p.Gly879Ser)	IRS2 (G879S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 733979	NM_003749.3(IRS2):c.2607C>A (p.Pro869=)	IRS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 751533	NM_003749.3(IRS2):c.2520G>A (p.Glu840=)	IRS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3110925	NM_003749.3(IRS2):c.2506G>A (p.Glu836Lys)	IRS2 (E836K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056733	NM_003749.3(IRS2):c.2487C>T (p.Pro829=)	IRS2	Single nucleotide variant (synonymous variant)	IRS2-related disorder	GBenign
Select item 3110924	NM_003749.3(IRS2):c.2483C>A (p.Ser828Tyr)	IRS2 (S828Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294012	NM_003749.3(IRS2):c.2459G>A (p.Ser820Asn)	IRS2 (S820N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3059034	NM_003749.3(IRS2):c.2448T>C (p.Cys816=)	IRS2	Single nucleotide variant (synonymous variant)	IRS2-related disorder	GBenign
Select item 2560915	NM_003749.3(IRS2):c.2380C>T (p.Pro794Ser)	IRS2 (P794S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1048914	NM_003749.3(IRS2):c.2362C>G (p.Leu788Val)	IRS2 (L788V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243863	NM_003749.3(IRS2):c.2357C>A (p.Ala786Glu)	IRS2 (A786E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388741	NM_003749.3(IRS2):c.2354C>T (p.Ser785Phe)	IRS2 (S785F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110923	NM_003749.3(IRS2):c.2339C>T (p.Pro780Leu)	IRS2 (P780L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052255	NM_003749.3(IRS2):c.2334C>T (p.Gly778=)	IRS2	Single nucleotide variant (synonymous variant)	IRS2-related disorder	GBenign
Select item 3110921	NM_003749.3(IRS2):c.2221G>A (p.Gly741Arg)	IRS2 (G741R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231630	NM_003749.3(IRS2):c.2203A>G (p.Ser735Gly)	IRS2 (S735G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397610	NM_003749.3(IRS2):c.2192C>T (p.Ser731Leu)	IRS2 (S731L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060213	NM_003749.3(IRS2):c.2169C>T (p.Ser723=)	IRS2	Single nucleotide variant (synonymous variant)	IRS2-related disorder	GBenign
Select item 3110920	NM_003749.3(IRS2):c.2168G>C (p.Ser723Thr)	IRS2 (S723T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1284991	NM_003749.3(IRS2):c.2081CCG[9] (p.Ala701dup)	IRS2	Microsatellite (inframe_insertion)	not provided	GBenign

<< First< Prev

Page of 3