6515[HGNC] - 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	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 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 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 153719	GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3	CRYL1, EEF1AKMT1 +116 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	ALOX5AP, AMER2 +488 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 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	USPL1, WASF3 +415 more	Copy number gain	See cases	GPathogenic
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	ATP12A, C1QTNF9 +181 more	Copy number loss	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 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009528, LOC130009529 +620 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 147997	GRCh38/hg38 13q12.11(chr13:19837395-21967789)x1	CRYL1, EEF1AKMT1 +84 more	Copy number loss	See cases	GUncertain significance
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 145365	GRCh38/hg38 13q12.11(chr13:19885283-22014498)x1	CRYL1, EEF1AKMT1 +79 more	Copy number loss	See cases	GPathogenic
Select item 57615	GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1	SAP18, SKA3 +75 more	Copy number loss	See cases	GPathogenic
Select item 155024	GRCh38/hg38 13q12.11(chr13:20344898-21521293)x1	CRYL1, EEF1AKMT1 +46 more	Copy number loss	See cases	GUncertain significance
Select item 3117960	NM_014572.3(LATS2):c.3252G>C (p.Gln1084His)	LATS2 (Q1084H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762028	NM_014572.3(LATS2):c.3237G>A (p.Gln1079=)	LATS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2317054	NM_014572.3(LATS2):c.3221C>G (p.Ser1074Cys)	LATS2 (S1074C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400341	NM_014572.3(LATS2):c.3161G>A (p.Arg1054Gln)	LATS2 (R1054Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 932515	NM_014572.3(LATS2):c.3105C>T (p.His1035=)	LATS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3117959	NM_014572.3(LATS2):c.3097C>T (p.Pro1033Ser)	LATS2 (P1033S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722404	NM_014572.3(LATS2):c.3037G>A (p.Asp1013Asn)	LATS2 (D1013N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3117958	NM_014572.3(LATS2):c.3028C>T (p.Pro1010Ser)	LATS2 (P1010S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117957	NM_014572.3(LATS2):c.2989A>G (p.Met997Val)	LATS2 (M997V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266389	NM_014572.3(LATS2):c.2968G>A (p.Val990Ile)	LATS2 (V990I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117956	NM_014572.3(LATS2):c.2936C>T (p.Ser979Phe)	LATS2 (S979F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715659	NM_014572.3(LATS2):c.2922C>T (p.Ser974=)	LATS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745873	NM_014572.3(LATS2):c.2789A>G (p.Asn930Ser)	LATS2 (N930S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2331265	NM_014572.3(LATS2):c.2746C>T (p.Pro916Ser)	LATS2 (P916S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 619198	NM_014572.3(LATS2):c.2699_2700insC (p.Val901fs)	LATS2 (V901fs)	Insertion (frameshift variant)	Malignant peritoneal mesothelioma	GLikely pathogenic
Select item 784478	NM_014572.3(LATS2):c.2665+5A>G	LATS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 779618	NM_014572.3(LATS2):c.2661C>T (p.Arg887=)	LATS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2465819	NM_014572.3(LATS2):c.2660G>A (p.Arg887His)	LATS2 (R887H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722405	NM_014572.3(LATS2):c.2556C>G (p.Asp852Glu)	LATS2 (D852E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2518800	NM_014572.3(LATS2):c.2546G>A (p.Arg849Gln)	LATS2 (R849Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544879	NM_014572.3(LATS2):c.2545C>T (p.Arg849Trp)	LATS2 (R849W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117955	NM_014572.3(LATS2):c.2539A>C (p.Asn847His)	LATS2 (N847H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778693	NM_014572.3(LATS2):c.2466C>G (p.Ser822=)	LATS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3117954	NM_014572.3(LATS2):c.2463T>G (p.Asn821Lys)	LATS2 (N821K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311798	NM_014572.3(LATS2):c.2302G>A (p.Ala768Thr)	LATS2 (A768T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 751756	NM_014572.3(LATS2):c.2115G>A (p.Leu705=)	LATS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711577	NM_014572.3(LATS2):c.1687G>A (p.Gly563Arg)	LATS2 (G563R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2221315	NM_014572.3(LATS2):c.1673G>T (p.Arg558Leu)	LATS2 (R558L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117950	NM_014572.3(LATS2):c.1640G>T (p.Gly547Val)	LATS2 (G547V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528059	NM_014572.3(LATS2):c.1609T>C (p.Cys537Arg)	LATS2 (C537R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791325	NM_014572.3(LATS2):c.1602C>T (p.Asp534=)	LATS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711578	NM_014572.3(LATS2):c.1557G>A (p.Pro519=)	LATS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2334717	NM_014572.3(LATS2):c.1555C>T (p.Pro519Ser)	LATS2 (P519S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548115	NM_014572.3(LATS2):c.1540C>T (p.Pro514Ser)	LATS2 (P514S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768603	NM_014572.3(LATS2):c.1419CGCCCC[4] (p.467PA[8])	LATS2	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 2354896	NM_014572.3(LATS2):c.1436C>T (p.Pro479Leu)	LATS2 (P479L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733837	NM_014572.3(LATS2):c.1416C>T (p.Ala472=)	LATS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3117949	NM_014572.3(LATS2):c.1405C>T (p.Pro469Ser)	LATS2 (P469S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331341	NM_014572.3(LATS2):c.1403C>A (p.Ala468Glu)	LATS2 (A468E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555536	NM_014572.3(LATS2):c.1343G>T (p.Arg448Leu)	LATS2 (R448L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713134	NM_014572.3(LATS2):c.1293C>T (p.Thr431=)	LATS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2215254	NM_014572.3(LATS2):c.1193C>T (p.Pro398Leu)	LATS2 (P398L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482101	NM_014572.3(LATS2):c.1180G>T (p.Val394Leu)	LATS2 (V394L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787406	NM_014572.3(LATS2):c.1158G>A (p.Leu386=)	LATS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2352439	NM_014572.3(LATS2):c.1153G>A (p.Gly385Ser)	LATS2 (G385S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727790	NM_014572.3(LATS2):c.1134G>A (p.Arg378=)	LATS2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2287855	NM_014572.3(LATS2):c.1021G>A (p.Asp341Asn)	LATS2 (D341N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333010	NM_014572.3(LATS2):c.941C>A (p.Pro314Gln)	LATS2 (P314Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330542	NM_014572.3(LATS2):c.929G>A (p.Gly310Glu)	LATS2 (G310E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384029	NM_014572.3(LATS2):c.928G>A (p.Gly310Arg)	LATS2 (G310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117967	NM_014572.3(LATS2):c.919C>T (p.Pro307Ser)	LATS2 (P307S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308558	NM_014572.3(LATS2):c.895G>A (p.Gly299Ser)	LATS2 (G299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711579	NM_014572.3(LATS2):c.840G>T (p.Pro280=)	LATS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2310317	NM_014572.3(LATS2):c.767C>T (p.Pro256Leu)	LATS2 (P256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590569	NM_014572.3(LATS2):c.764G>A (p.Arg255Gln)	LATS2 (R255Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117966	NM_014572.3(LATS2):c.748G>T (p.Gly250Cys)	LATS2 (G250C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117965	NM_014572.3(LATS2):c.747G>T (p.Gln249His)	LATS2 (Q249H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117964	NM_014572.3(LATS2):c.739C>T (p.Pro247Ser)	LATS2 (P247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294574	NM_014572.3(LATS2):c.661C>T (p.Pro221Ser)	LATS2 (P221S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279571	NM_014572.3(LATS2):c.656T>C (p.Val219Ala)	LATS2 (V219A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328297	NM_014572.3(LATS2):c.641A>G (p.Tyr214Cys)	LATS2 (Y214C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117963	NM_014572.3(LATS2):c.577G>A (p.Gly193Ser)	LATS2 (G193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117962	NM_014572.3(LATS2):c.556C>A (p.Leu186Met)	LATS2 (L186M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3117961	NM_014572.3(LATS2):c.442C>A (p.Gln148Lys)	LATS2 (Q148K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588030	NM_014572.3(LATS2):c.272C>T (p.Ser91Leu)	LATS2 (S91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117953	NM_014572.3(LATS2):c.220C>G (p.Gln74Glu)	LATS2 (Q74E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117952	NM_014572.3(LATS2):c.202C>T (p.Pro68Ser)	LATS2 (P68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280498	NM_014572.3(LATS2):c.112C>T (p.Pro38Ser)	LATS2 (P38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317201	NM_014572.3(LATS2):c.72G>C (p.Glu24Asp)	LATS2 (E24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	ALOX5AP, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 2684694	GRCh37/hg19 13q12.11(chr13:21525247-21769194)x3	LATS2, MRPL57 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684693	GRCh37/hg19 13q12.11(chr13:21457862-21683681)x3	LATS2, XPO4	Copy number gain	not provided	GUncertain significance
Select item 1809316	GRCh37/hg19 13q11-12.11(chr13:19436287-22089005)x1	CRYL1, EEF1AKMT1 +18 more	Copy number loss	not provided	GPathogenic
Select item 1808257	GRCh37/hg19 13q11-12.11(chr13:19436287-22405375)x3	CRYL1, EEF1AKMT1 +19 more	Copy number gain	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 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 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic

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