2322[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 590266	t(12;13)(p13.2;q12.2)	ETV6, FLT3	Translocation	Chronic myelomonocytic leukemia	GLikely pathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 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 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +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	ABCC4, ABHD13 +2044 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 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC130009480, LOC130009481 +488 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 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	USPL1, WASF3 +415 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 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009376, LOC130009377 +620 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 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 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 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 145957	GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3	CDX2, FLT1 +123 more	Copy number gain	See cases	GLikely pathogenic
Select item 776787	NM_004119.3(FLT3):c.2979G>A (p.Ser993=)	FLT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 134442	NM_004119.3(FLT3):c.2971G>A (p.Glu991Lys)	FLT3 (E991K)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134441	NM_004119.3(FLT3):c.2962G>C (p.Ala988Pro)	FLT3 (A988P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1178009	NM_004119.3(FLT3):c.2958G>A (p.Pro986=)	FLT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 134439	NM_004119.3(FLT3):c.2957C>T (p.Pro986Leu)	FLT3 (P986L)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134440	NM_004119.3(FLT3):c.2918G>A (p.Arg973Gln)	FLT3 (R973Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 134438	NM_004119.3(FLT3):c.2888C>T (p.Ser963Leu)	FLT3 (S963L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2314361	NM_004119.3(FLT3):c.2882G>A (p.Arg961His)	FLT3 (R961H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2397815	NM_004119.3(FLT3):c.2881C>T (p.Arg961Cys)	FLT3 (R961C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 134437	NM_004119.3(FLT3):c.2858C>T (p.Ala953Val)	FLT3 (A953V)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 710610	NM_004119.3(FLT3):c.2823G>A (p.Ser941=)	FLT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1243109	NM_004119.3(FLT3):c.2753+27G>A	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2532313	NM_004119.3(FLT3):c.2716T>C (p.Phe906Leu)	FLT3 (F906L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731549	NM_004119.3(FLT3):c.2679G>A (p.Pro893=)	FLT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1283726	NM_004119.3(FLT3):c.2654-102G>C	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277163	NM_004119.3(FLT3):c.2654-116G>A	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256865	NM_004119.3(FLT3):c.2653+65G>C	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2474795	NM_004119.3(FLT3):c.2642T>C (p.Ile881Thr)	FLT3 (I881T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 744507	NM_004119.3(FLT3):c.2622T>C (p.Tyr874=)	FLT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2295190	NM_004119.3(FLT3):c.2616G>C (p.Trp872Cys)	FLT3 (W872C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2064171	NM_004119.3(FLT3):c.2554G>A (p.Val852Ile)	FLT3 (V852I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1231363	NM_004119.3(FLT3):c.2542-304G>C	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245510	NM_004119.3(FLT3):c.2541+58A>G	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2572500	NM_004119.3(FLT3):c.2533A>G (p.Arg845Gly)	FLT3 (R845G)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376102	NM_004119.3(FLT3):c.2525A>G (p.Tyr842Cys)	FLT3 (Y842C)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376103	NM_004119.3(FLT3):c.2524T>C (p.Tyr842His)	FLT3 (Y842H)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376718	NM_004119.3(FLT3):c.2523C>A (p.Asn841Lys)	FLT3 (N841K)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376723	NM_004119.3(FLT3):c.2521A>C (p.Asn841His)	FLT3 (N841H)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 16271	NM_004119.3(FLT3):c.2520_2521insGGATCC (p.Ser840_Asn841insGlySer)	FLT3	Insertion (inframe_insertion +1 more)	Acute myeloid leukemia	GPathogenic
Select item 376014	NM_004119.3(FLT3):c.2516A>G (p.Asp839Gly)	FLT3 (D839G)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376326	NM_004119.3(FLT3):c.2508_2510del (p.Ile836del)	FLT3 (I836del)	Deletion (inframe_deletion +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 375969	NM_004119.3(FLT3):c.2508C>G (p.Ile836Met)	FLT3 (I836M)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 376717	NM_004119.3(FLT3):c.2507T>G (p.Ile836Ser)	FLT3 (I836S)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376722	NM_004119.3(FLT3):c.2506A>T (p.Ile836Phe)	FLT3 (I836F)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376720	NM_004119.3(FLT3):c.2506A>G (p.Ile836Val)	FLT3 (I836V)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 375970	NM_004119.3(FLT3):c.2506A>C (p.Ile836Leu)	FLT3 (I836L)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 375972	NM_004119.3(FLT3):c.2505T>A (p.Asp835Glu)	FLT3 (D835E)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 375971	NM_004119.3(FLT3):c.2505T>G (p.Asp835Glu)	FLT3 (D835E)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 16277	NM_004119.3(FLT3):c.2503_2505del (p.Asp835del)	FLT3 (D835del)	Deletion (inframe_deletion +1 more)	Acute myeloid leukemia	GPathogenic/Likely pathogenic
Select item 376104	NM_004119.3(FLT3):c.2503_2504delinsTT (p.Asp835Phe)	FLT3 (D835F)	Indel (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 375973	NM_004119.3(FLT3):c.2504A>C (p.Asp835Ala)	FLT3 (D835A)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 16272	NM_004119.3(FLT3):c.2504A>T (p.Asp835Val)	FLT3 (D835V)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia +1 more	GPathogenic
Select item 16276	NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr)	FLT3 (D835Y)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia +1 more	GPathogenic
Select item 16274	NM_004119.3(FLT3):c.2503G>A (p.Asp835Asn)	FLT3 (D835N)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 16273	NM_004119.3(FLT3):c.2503G>C (p.Asp835His)	FLT3 (D835H)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 2282729	NM_004119.3(FLT3):c.2482T>C (p.Cys828Arg)	FLT3 (C828R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 725869	NM_004119.3(FLT3):c.2448C>T (p.Asn816=)	FLT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3053518	NM_004119.3(FLT3):c.2439C>T (p.Ala813=)	FLT3	Single nucleotide variant (synonymous variant +1 more)	FLT3-related condition	GLikely benign
Select item 1253763	NM_004119.3(FLT3):c.2419-187G>A	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286964	NM_004119.3(FLT3):c.2418+300G>A	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230721	NM_004119.3(FLT3):c.2418+128G>A	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286972	NM_004119.3(FLT3):c.2418+38_2418+39del	FLT3	Deletion (intron variant)	not provided	GBenign
Select item 727593	NM_004119.3(FLT3):c.2415G>A (p.Lys805=)	FLT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3095734	NM_004119.3(FLT3):c.2336A>T (p.Asp779Val)	FLT3 (D779V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1270594	NM_004119.3(FLT3):c.2291-225C>T	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282410	NM_004119.3(FLT3):c.2291-335dup	FLT3	Duplication (intron variant)	not provided	GBenign
Select item 1279467	NM_004119.3(FLT3):c.2290+173A>G	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 585093	NM_004119.3(FLT3):c.2211G>C (p.Met737Ile)	FLT3 (M737I)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	Gnot provided
Select item 737902	NM_004119.3(FLT3):c.2205C>T (p.Ser735=)	FLT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 735586	NM_004119.3(FLT3):c.2199A>G (p.Pro733=)	FLT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2231893	NM_004119.3(FLT3):c.2126A>C (p.Lys709Thr)	FLT3 (K709T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 376106	NM_004119.3(FLT3):c.2073T>A (p.Phe691Leu)	FLT3 (F691L)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376105	NM_004119.3(FLT3):c.2073T>G (p.Phe691Leu)	FLT3 (F691L)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376107	NM_004119.3(FLT3):c.2059A>T (p.Ile687Phe)	FLT3 (I687F)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 1228322	NM_004119.3(FLT3):c.2054-243G>A	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224230	NM_004119.3(FLT3):c.2054-273A>G	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288512	NM_004119.3(FLT3):c.2053+321C>T	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273290	NM_004119.3(FLT3):c.2053+67CT[10]	FLT3	Microsatellite (intron variant)	not provided	GBenign
Select item 1257200	NM_004119.3(FLT3):c.2053+67CT[9]	FLT3	Microsatellite (intron variant)	not provided	GBenign
Select item 1221647	NM_004119.3(FLT3):c.2053+59G>A	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291612	NM_004119.3(FLT3):c.2053+23A>G	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 134435	NM_004119.3(FLT3):c.2050T>C (p.Ser684Pro)	FLT3 (S684P)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 735735	NM_004119.3(FLT3):c.2046A>G (p.Thr682=)	FLT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 376109	NM_004119.3(FLT3):c.2028C>A (p.Asn676Lys)	FLT3 (N676K)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376108	NM_004119.3(FLT3):c.2028C>G (p.Asn676Lys)	FLT3 (N676K)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376110	NM_004119.3(FLT3):c.2026A>G (p.Asn676Asp)	FLT3 (N676D)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 3095733	NM_004119.3(FLT3):c.2021T>C (p.Ile674Thr)	FLT3 (I674T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331709	NM_004119.3(FLT3):c.2014G>A (p.Glu672Lys)	FLT3 (E672K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 376724	NM_004119.3(FLT3):c.1987A>C (p.Lys663Gln)	FLT3 (K663Q)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376111	NM_004119.3(FLT3):c.1952A>G (p.Asp651Gly)	FLT3 (D651G)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 1241612	NM_004119.3(FLT3):c.1943-179A>G	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270334	NM_004119.3(FLT3):c.1942+314C>G	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232565	NM_004119.3(FLT3):c.1942+108A>T	FLT3	Single nucleotide variant (intron variant)	not provided	GBenign

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