2123[Gene ID] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 131

<< First< Prev

Page of 2

	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	LOC125177454, LOC130060654 +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	EVI2A, EVI2B +13 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 583583	NC_000017.11:g.(?_31095300)_(31374165_?)del	EVI2B, EVI2A +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	LOC111811965, LOC125177454 +13 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 647950	NC_000017.11:g.(?_31155963)_(31374175_?)del	EVI2A, EVI2B +10 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 457502	NC_000017.11:g.(?_31155977)_(31374161_?)del	LOC130060656, EVI2A +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	EVI2B, LOC125177454 +8 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 457505	NC_000017.11:g.(?_31179106)_(31357039_?)del	LOC130060655, LOC130060656 +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	EVI2A, EVI2B +7 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 242479	NM_000267.3(NF1):c.4110+1791_7394+859dup	LOC130060654, LOC130060655 +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, LOC130060654 +5 more	Deletion (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 417327	NC_000017.11:g.(?_31261711)_(31340645_?)del	LOC130060656, NF1 +5 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 217085	NM_000267.3(NF1):c.4773-22561_6311del	LOC130060655, LOC130060656 +4 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2605834	NM_014210.4(EVI2A):c.689T>C (p.Leu230Pro)	EVI2A, NF1 (L230P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207682	NM_014210.4(EVI2A):c.634A>G (p.Thr212Ala)	NF1, EVI2A (T212A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268006	NM_014210.4(EVI2A):c.626T>G (p.Met209Arg)	EVI2A, NF1 (M232R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311228	NM_014210.4(EVI2A):c.596C>T (p.Thr199Ile)	NF1, EVI2A (T222I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348552	NM_014210.4(EVI2A):c.571G>A (p.Ala191Thr)	NF1, EVI2A (A214T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2578786	NM_014210.4(EVI2A):c.559G>A (p.Gly187Ser)	EVI2A, LOC130060655 +1 more (G187S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2374527	NM_014210.4(EVI2A):c.541G>A (p.Gly181Ser)	EVI2A, LOC130060655 +1 more (G181S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 377247	NM_014210.4(EVI2A):c.527A>G (p.Gln176Arg)	EVI2A, LOC130060655 +1 more (Q176R +1 more)	Single nucleotide variant (missense variant +1 more)	EVI2A-related condition +2 more	GBenign/Likely benign
Select item 2255377	NM_014210.4(EVI2A):c.523C>T (p.Arg175Cys)	EVI2A, LOC130060655 +1 more (R175C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237499	NM_014210.4(EVI2A):c.503G>A (p.Arg168Gln)	EVI2A, NF1 (R191Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542006	NM_014210.4(EVI2A):c.461T>C (p.Leu154Pro)	EVI2A, NF1 (L177P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407166	NM_014210.4(EVI2A):c.449C>A (p.Thr150Asn)	EVI2A, NF1 (T173N +1 more)	Single nucleotide variant (missense variant +1 more)	NF1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2374765	NM_014210.4(EVI2A):c.398T>C (p.Met133Thr)	EVI2A, NF1 (M133T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 803363	NM_014210.4(EVI2A):c.386ACA[3] (p.Asn132del)	EVI2A, NF1 (N132del +1 more)	Microsatellite (inframe_deletion +1 more)	Neurofibromatosis, type 1	GLikely benign
Select item 1742983	NM_014210.4(EVI2A):c.329T>C (p.Ile110Thr)	EVI2A, NF1 (I133T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign
Select item 2647638	NM_014210.4(EVI2A):c.300C>A (p.Val100=)	EVI2A, LOC130060656 +1 more	Single nucleotide variant (synonymous variant +1 more)	EVI2A-related condition +1 more	GLikely benign
Select item 3044725	NM_014210.4(EVI2A):c.156C>T (p.Gly52=)	EVI2A, NF1	Single nucleotide variant (synonymous variant +1 more)	EVI2A-related condition	GBenign
Select item 2296848	NM_014210.4(EVI2A):c.101G>A (p.Arg34His)	EVI2A, NF1 (R57H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 445615	NM_014210.4(EVI2A):c.38A>G (p.His13Arg)	EVI2A, NF1 (H13R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 403230	NM_014210.4(EVI2A):c.-1C>T	EVI2A, NF1	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
Select item 431651	NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del)	EVI2A, NF1	Microsatellite (inframe_deletion)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
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	OMG, EVI2A +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 2422726	NC_000017.10:g.(?_29645324)_(29679452_?)del	EVI2A, NF1	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	OMG, EVI2A +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 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 1460273	NC_000017.10:g.(?_29546003)_(29701173_?)del	EVI2A, EVI2B +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	OMG, EVI2A +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

<< First< Prev

Page of 2