EVI2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 153736	GRCh38/hg38 17q11.2(chr17:30625268-32059496)x1	ADAP2, ATAD5 +73 more	Copy number loss	See cases	GPathogenic
Select item 58136	GRCh38/hg38 17q11.2(chr17:30630734-32088380)x3	ADAP2, ATAD5 +74 more	Copy number gain	See cases	GPathogenic
Select item 153222	GRCh38/hg38 17q11.2(chr17:30666018-32085769)x1	ADAP2, ATAD5 +72 more	Copy number loss	See cases	GPathogenic
Select item 58139	GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3	ADAP2, ATAD5 +69 more	Copy number gain	See cases	GPathogenic
Select item 60460	GRCh38/hg38 17q11.2(chr17:30672816-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 153915	GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3	ADAP2, ATAD5 +70 more	Copy number gain	See cases	GUncertain significance
Select item 155211	GRCh38/hg38 17q11.2(chr17:30678153-32073866)x1	ADAP2, ATAD5 +70 more	Copy number loss	See cases	GPathogenic
Select item 151510	GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1	ADAP2, ATAD5 +68 more	Copy number loss	See cases	GPathogenic
Select item 150276	GRCh38/hg38 17q11.2(chr17:30706845-31999933)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 60461	GRCh38/hg38 17q11.2(chr17:30706863-31994624)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 160878	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 57031	GRCh38/hg38 17q11.2(chr17:30706864-32099761)x3	ADAP2, ATAD5 +72 more	Copy number gain	See cases	GPathogenic
Select item 34989	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x3	ADAP2, ATAD5 +65 more	Copy number gain	See cases	GUncertain significance
Select item 60462	GRCh38/hg38 17q11.2(chr17:30767194-31937486)x1	ADAP2, ATAD5 +62 more	Copy number loss	See cases	GPathogenic
Select item 154090	GRCh38/hg38 17q11.2(chr17:30831320-31322174)x3	ADAP2, ATAD5 +29 more	Copy number gain	See cases	GUncertain significance
Select item 237507	NM_000267.3(NF1):c.-383_*3522del	LOC108281181, LOC108281182 +13 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 360	NC_000017.11:g.(?_31094927)_(31377677_?)del	EVI2A, EVI2B +13 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 506282	NM_001042492.2(NF1):c.(?_-50)_(*68_?)del	EVI2A, EVI2B +13 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 583654	NC_000017.10:g.(?_29422318)_(29701183_?)dup	LOC108281182, LOC111811965 +13 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 583583	NC_000017.11:g.(?_31095300)_(31374165_?)del	EVI2A, EVI2B +13 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 832212	NC_000017.11:g.(?_31095304)_(31374161_?)del	EVI2A, EVI2B +13 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 527682	NC_000017.10:g.(?_29422322)_(29701179_?)dup	LOC108281180, LOC108281181 +13 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 647950	NC_000017.11:g.(?_31155963)_(31374175_?)del	LOC108281170, EVI2B +10 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 457502	NC_000017.11:g.(?_31155977)_(31374161_?)del	EVI2A, EVI2B +10 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 583535	NC_000017.11:g.(?_31169871)_(31343155_?)del	EVI2A, EVI2B +6 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 643145	NC_000017.11:g.(?_31169881)_(31374165_?)del	EVI2A, EVI2B +8 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 457505	NC_000017.11:g.(?_31179106)_(31357039_?)del	EVI2A, EVI2B +7 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 651252	NC_000017.11:g.(?_31218995)_(31374165_?)del	EVI2A, EVI2B +7 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 660684	NC_000017.11:g.(?_31248974)_(31374165_?)del	LOC130060655, LOC130060656 +7 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 242479	NM_000267.3(NF1):c.4110+1791_7394+859dup	EVI2A, EVI2B +5 more	Duplication	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 217112	NM_000267.3(NF1):c.[4110+1791_7394+859dup;4110+1798del]	NF1, EVI2A +5 more	Deletion (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 417327	NC_000017.11:g.(?_31261711)_(31340645_?)del	LOC130060656, EVI2A +5 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 217082	NM_000267.3(NF1):c.4662-397_4773-14262del	LOC130060654, NF1 +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 217085	NM_000267.3(NF1):c.4773-22561_6311del	LOC130060656, NF1 +4 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2410276	NM_006495.4(EVI2B):c.1305T>A (p.Asp435Glu)	EVI2B, NF1 (D435E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223402	NM_006495.4(EVI2B):c.1223T>C (p.Val408Ala)	EVI2B, NF1 (V408A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219649	NM_006495.4(EVI2B):c.1214T>C (p.Leu405Pro)	EVI2B, NF1 (L405P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537991	NM_006495.4(EVI2B):c.1178A>G (p.Gln393Arg)	EVI2B, NF1 (Q393R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090830	NM_006495.4(EVI2B):c.1127C>A (p.Ser376Tyr)	EVI2B, NF1 (S376Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295111	NM_006495.4(EVI2B):c.1093C>G (p.Pro365Ala)	NF1, EVI2B (P365A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519958	NM_006495.4(EVI2B):c.1078A>G (p.Met360Val)	EVI2B, NF1 (M360V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 235483	NM_001042492.3(NF1):c.4836-21229G>C	EVI2B, NF1 (P340R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2402167	NM_006495.4(EVI2B):c.1009G>C (p.Asp337His)	EVI2B, NF1 (D337H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227496	NM_006495.4(EVI2B):c.995C>A (p.Ser332Tyr)	EVI2B, NF1 (S332Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090840	NM_006495.4(EVI2B):c.956A>G (p.Asp319Gly)	EVI2B, NF1 (D319G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615302	NM_006495.4(EVI2B):c.938T>C (p.Val313Ala)	EVI2B, NF1 (V313A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295919	NM_006495.4(EVI2B):c.931G>C (p.Asp311His)	EVI2B, NF1 (D311H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570984	NM_006495.4(EVI2B):c.853G>C (p.Asp285His)	EVI2B, NF1 (D285H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3276668	NM_006495.4(EVI2B):c.832A>G (p.Ser278Gly)	EVI2B, NF1 (S278G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090839	NM_006495.4(EVI2B):c.796C>T (p.Arg266Cys)	EVI2B, NF1 (R266C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510258	NM_006495.4(EVI2B):c.763G>A (p.Asp255Asn)	EVI2B, NF1 (D255N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 446081	NM_006495.4(EVI2B):c.758G>T (p.Cys253Phe)	EVI2B, NF1 (C253F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2362029	NM_006495.4(EVI2B):c.708A>T (p.Gln236His)	EVI2B, NF1 (Q236H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647634	NM_001042492.3(NF1):c.4836-20889A>T	EVI2B, NF1 (C227S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2568166	NM_006495.4(EVI2B):c.658A>G (p.Ile220Val)	EVI2B, NF1 (I220V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366525	NM_006495.4(EVI2B):c.643A>G (p.Met215Val)	EVI2B, NF1 (M215V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1684951	NM_001042492.3(NF1):c.4836-20797del	EVI2B, NF1 (N198fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2411696	NM_006495.4(EVI2B):c.458T>C (p.Val153Ala)	EVI2B, NF1 (V153A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090836	NM_006495.4(EVI2B):c.451T>A (p.Ser151Thr)	EVI2B, NF1 (S151T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378496	NM_006495.4(EVI2B):c.446A>C (p.Gln149Pro)	EVI2B, NF1 (Q149P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348553	NM_006495.4(EVI2B):c.440C>T (p.Thr147Ile)	EVI2B, NF1 (T147I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258288	NM_006495.4(EVI2B):c.361G>A (p.Val121Met)	EVI2B, NF1 (V121M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276666	NM_006495.4(EVI2B):c.346T>G (p.Ser116Ala)	EVI2B, NF1 (S116A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602609	NM_006495.4(EVI2B):c.335T>C (p.Ile112Thr)	EVI2B, NF1 (I112T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3090835	NM_006495.4(EVI2B):c.325C>T (p.Pro109Ser)	EVI2B, NF1 (P109S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090834	NM_006495.4(EVI2B):c.319A>G (p.Lys107Glu)	EVI2B, NF1 (K107E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647635	NM_006495.4(EVI2B):c.276A>G (p.Pro92=)	EVI2B, NF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3257116	NM_006495.4(EVI2B):c.258T>C (p.Tyr86=)	EVI2B, NF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3090833	NM_006495.4(EVI2B):c.245C>A (p.Thr82Lys)	EVI2B, NF1 (T82K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090832	NM_006495.4(EVI2B):c.233C>A (p.Ala78Asp)	EVI2B, NF1 (A78D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480327	NM_006495.4(EVI2B):c.211A>G (p.Ile71Val)	EVI2B, NF1 (I71V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3090831	NM_006495.4(EVI2B):c.208T>A (p.Ser70Thr)	EVI2B, NF1 (S70T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478531	NM_006495.4(EVI2B):c.197T>C (p.Phe66Ser)	EVI2B, NF1 (F66S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2647636	NM_001042492.3(NF1):c.4836-20399G>A	EVI2B, NF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2362267	NM_006495.4(EVI2B):c.161A>T (p.Asn54Ile)	EVI2B, NF1 (N54I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 376784	NM_006495.4(EVI2B):c.157G>A (p.Gly53Arg)	EVI2B, NF1 (G53R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 3276667	NM_006495.4(EVI2B):c.123G>A (p.Met41Ile)	EVI2B, NF1 (M41I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608407	NM_006495.4(EVI2B):c.118T>C (p.Ser40Pro)	EVI2B, NF1 (S40P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090837	NM_006495.4(EVI2B):c.48C>A (p.Asn16Lys)	EVI2B, NF1 (N16K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362028	NM_006495.4(EVI2B):c.13T>C (p.Tyr5His)	EVI2B, NF1 (Y5H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242912	NC_000017.10:g.(?_29585391)_(29760973_?)del	EVI2A, EVI2B +3 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242910	NC_000017.10:g.(?_29559786)_(29644315_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242899	NC_000017.10:g.(?_29496899)_(29701173_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 3242886	NC_000017.10:g.(?_29527428)_(29670163_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242882	NC_000017.10:g.(?_29508420)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242874	NC_000017.10:g.(?_29490184)_(29687741_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242864	NC_000017.10:g.(?_29585352)_(29701183_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242862	NC_000017.10:g.(?_29575992)_(29656858_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242855	NC_000017.10:g.(?_29533238)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242852	NC_000017.10:g.(?_29422055)_(29679452_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3237178	GRCh37/hg19 17q11.2(chr17:29000019-30416429)	ADAP2, ATAD5 +13 more	Copy number loss	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 3063509	GRCh37/hg19 17q11.2(chr17:29305509-31246638)x3	C17orf75, CDK5R1 +16 more	Copy number gain	not specified	GPathogenic
Select item 3063487	GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	ADAP2, ATAD5 +28 more	Copy number loss	not specified	GPathogenic
Select item 2685600	GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	ADAP2, ATAD5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2671621	Single allele	ADAP2, ATAD5 +13 more	Deletion	not provided	GPathogenic
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2422751	NC_000017.10:g.(?_29422055)_(29701173_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 2422742	NC_000017.10:g.(?_29559879)_(29685283_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422739	NC_000017.10:g.(?_29585352)_(29670163_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GLikely pathogenic

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