ClinVar for Gene (Select 2124) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374911	NC_000017.10:g.(?_29421944)_(29704696_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 2647636	NM_001042492.3(NF1):c.4836-20399G>A	EVI2B, NF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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
Select item 2422737	NC_000017.10:g.(?_29575982)_(29662069_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GLikely pathogenic
Select item 2422730	NC_000017.10:g.(?_29527420)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422725	NC_000017.10:g.(?_29622027)_(29654877_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422724	NC_000017.10:g.(?_29592237)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422723	NC_000017.10:g.(?_29585352)_(29670163_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422722	NC_000017.10:g.(?_29575982)_(29665843_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422721	NC_000017.10:g.(?_29562619)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422719	NC_000017.10:g.(?_29556833)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422717	NC_000017.10:g.(?_29541449)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422716	NC_000017.10:g.(?_29422328)_(29677356_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422715	NC_000017.10:g.(?_29422055)_(29662069_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
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 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 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 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 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 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 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 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 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 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 2295111	NM_006495.4(EVI2B):c.1093C>G (p.Pro365Ala)	EVI2B, NF1 (P365A)	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 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 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 1710521	GRCh37/hg19 17q11.2(chr17:29076232-30043725)x1	ADAP2, ATAD5 +9 more	Copy number loss	not provided	GPathogenic
Select item 1703547	GRCh37/hg19 17q11.2(chr17:28993036-30412788)	ADAP2, ATAD5 +13 more	Copy number loss	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 1684951	NM_001042492.3(NF1):c.4836-20797del	EVI2B, NF1 (N198fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1460273	NC_000017.10:g.(?_29546003)_(29701173_?)del	EVI2B, EVI2A +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1458077	NC_000017.10:g.(?_29496899)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1458070	NC_000017.10:g.(?_29585342)_(29665843_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1454789	NC_000017.10:g.(?_29622128)_(29667673_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1433157	NC_000017.10:g.(?_29527488)_(29703830_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1172820	Single allele	ADAP2, ATAD5 +13 more	Deletion	Cerebral palsy	GPathogenic
Select item 1073833	NC_000017.10:g.(?_29422322)_(29701178_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1072221	NC_000017.10:g.(?_29592237)_(29653280_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1072220	NC_000017.10:g.(?_29588709)_(29701193_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1072219	NC_000017.10:g.(?_29587625)_(29669475_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1072079	NC_000017.10:g.(?_29422322)_(29665163_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1072078	NC_000017.10:g.(?_29422322)_(29664606_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1071967	NC_000017.10:g.(?_29422055)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1070266	NC_000017.10:g.(?_29527428)_(29657848_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1070147	NC_000017.10:g.(?_29587381)_(29662055_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1070146	NC_000017.10:g.(?_29586040)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1070145	NC_000017.10:g.(?_29559081)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1060911	NC_000017.10:g.(?_29422308)_(29701193_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 1041201	NC_000017.10:g.(?_29622128)_(29701173_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 980153	GRCh37/hg19 17q11.2(chr17:29039844-30412788)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 929369	GRCh37/hg19 17q11.2(chr17:29393104-30427403)x1	COPRS, EVI2A +8 more	Copy number loss	See cases	GPathogenic
Select item 833518	NC_000017.11:g.(?_31093927)_(31378677_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 833390	NC_000017.11:g.(?_31095030)_(31374155_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 833381	NC_000017.11:g.(?_31248964)_(31352434_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GLikely pathogenic

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