NF1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 14447

<< First< Prev

Page of 145

	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 1678524	NC_000017.11:g.30660608_31159168inv	ADAP2, ATAD5 +27 more	Inversion	Neurofibromatosis, type 1	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 417338	NC_000017.10:g.(?_29421945)_(29509683_?)dup	LOC108281169, LOC108281170 +4 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 417336	NC_000017.11:g.(?_31094927)_(31182665_?)del	LOC108281169, LOC108281170 +4 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 417332	NC_000017.11:g.(?_31094927)_(31095369_?)del	LOC111811965, MIR4733HG +1 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 254085	NM_000267.3(NF1):c.-383_60+?dup443	LOC111811965, MIR4733HG +1 more	Duplication	Neurofibromatosis, type 1	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 890653	NM_000267.3(NF1):c.-363T>C	MIR4733HG, NF1 +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 322553	NM_001042492.3(NF1):c.-322G>A	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 1380660	NM_001042492.3(NF1):c.-280_-264del	LOC111811965, MIR4733HG +1 more	Deletion (5 prime UTR variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2697306	NM_001042492.3(NF1):c.-280C>T	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2130037	NM_001042492.3(NF1):c.-273A>T	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1404731	NM_001042492.3(NF1):c.-273A>G	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1379698	NM_001042492.3(NF1):c.-272G>C	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1013130	NM_001042492.3(NF1):c.-272G>A	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891891	NM_001042492.3(NF1):c.-265G>C	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 322555	NM_001042492.3(NF1):c.-249_-247dup	LOC111811965, MIR4733HG +1 more	Duplication (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 322554	NM_001042492.3(NF1):c.-248_-247dup	MIR4733HG, LOC111811965 +1 more	Duplication (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 891892	NM_001042492.3(NF1):c.-251C>T	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 322556	NM_001042492.3(NF1):c.-242dup	MIR4733HG, LOC111811965 +1 more	Duplication (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 322557	NM_001042492.3(NF1):c.-237dup	LOC111811965, MIR4733HG +1 more	Duplication (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 322558	NM_001042492.3(NF1):c.-237C>T	MIR4733HG, LOC111811965 +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 322559	NM_001042492.3(NF1):c.-229C>G	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 322560	NM_001042492.3(NF1):c.-209C>A	MIR4733HG, LOC111811965 +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 322561	NM_001042492.3(NF1):c.-173C>G	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 890701	NM_001042492.3(NF1):c.-166T>C	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 322562	NM_001042492.3(NF1):c.-148C>A	MIR4733HG, LOC111811965 +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +4 more	GUncertain significance
Select item 322563	NM_001042492.3(NF1):c.-115T>C	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 322564	NM_001042492.3(NF1):c.-84C>T	MIR4733HG, LOC111811965 +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 322565	NM_001042492.3(NF1):c.-73G>T	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 889509	NM_001042492.3(NF1):c.-51C>T	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GUncertain significance
Select item 506282	NM_001042492.2(NF1):c.(?_-50)_(*68_?)del	EVI2A, EVI2B +13 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 257274	NM_001042492.3(NF1):c.-22G>C	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +5 more	GBenign/Likely benign
Select item 1692322	NM_001042492.3(NF1):c.-18C>G	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 583860	NC_000017.11:g.(?_31095300)_(31095379_?)del	MIR4733HG, LOC111811965 +1 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 583778	NC_000017.10:g.(?_29422318)_(29422397_?)dup	LOC111811965, MIR4733HG +1 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
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 219977	NM_001042492.3(NF1):c.-8G>A	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	NF1-related disorder +1 more	GConflicting classifications of pathogenicity
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 457497	NC_000017.11:g.(?_31095304)_(31156132_?)del	LOC108281169, LOC111811965 +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1744707	NM_001042492.3(NF1):c.-4G>A	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1784218	NM_001042492.3(NF1):c.-2_3del (p.Met1fs)	LOC111811965, MIR4733HG +1 more (M1fs)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype +1 more	GPathogenic
Select item 822503	NM_001042492.3(NF1):c.-2A>G	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 231758	NM_001042492.3(NF1):c.-2A>T	MIR4733HG, LOC111811965 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1455045	NM_001042492.3(NF1):c.1A>T (p.Met1Leu)	LOC111811965, MIR4733HG +1 more (M1L)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 694505	NM_001042492.3(NF1):c.1A>C (p.Met1Leu)	LOC111811965, MIR4733HG +1 more (M1L)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 404429	NM_001042492.3(NF1):c.1A>G (p.Met1Val)	LOC111811965, MIR4733HG +1 more (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 547562	NM_001042492.3(NF1):c.2T>A (p.Met1Lys)	LOC111811965, MIR4733HG +1 more (M1K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 426634	NM_001042492.3(NF1):c.2T>G (p.Met1Arg)	LOC111811965, MIR4733HG +1 more (M1R)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 280054	NM_001042492.3(NF1):c.2T>C (p.Met1Thr)	LOC111811965, MIR4733HG +1 more (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 2736490	NM_001042492.3(NF1):c.3G>T (p.Met1Ile)	LOC111811965, MIR4733HG +1 more (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	Neurofibromatosis, type 1	GPathogenic
Select item 824485	NM_001042492.3(NF1):c.3G>C (p.Met1Ile)	LOC111811965, MIR4733HG +1 more (M1I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GPathogenic
Select item 647845	NM_001042492.3(NF1):c.3G>A (p.Met1Ile)	LOC111811965, MIR4733HG +1 more (M1I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GPathogenic
Select item 2818274	NM_001042492.3(NF1):c.4G>A (p.Ala2Thr)	LOC111811965, MIR4733HG +1 more (A2T)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurofibromatosis, type 1	GUncertain significance
Select item 1463829	NM_001042492.3(NF1):c.4G>T (p.Ala2Ser)	LOC111811965, MIR4733HG +1 more (A2S)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GUncertain significance
Select item 480205	NM_001042492.3(NF1):c.4_5delinsTT (p.Ala2Phe)	LOC111811965, MIR4733HG +1 more (A2F)	Indel (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 2063440	NM_001042492.3(NF1):c.5C>A (p.Ala2Asp)	LOC111811965, MIR4733HG +1 more (A2D)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
Select item 1068537	NM_001042492.3(NF1):c.6del (p.Ala3fs)	LOC111811965, MIR4733HG +1 more (A3fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 480069	NM_001042492.3(NF1):c.5C>T (p.Ala2Val)	LOC111811965, MIR4733HG +1 more (A2V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1141694	NM_001042492.3(NF1):c.6C>G (p.Ala2=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 233007	NM_001042492.3(NF1):c.6C>T (p.Ala2=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +1 more	GLikely benign
Select item 658636	NM_001042492.3(NF1):c.7G>A (p.Ala3Thr)	LOC111811965, MIR4733HG +1 more (A3T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1765417	NM_001042492.3(NF1):c.8C>A (p.Ala3Glu)	LOC111811965, MIR4733HG +1 more (A3E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1037115	NM_001042492.3(NF1):c.8C>G (p.Ala3Gly)	LOC111811965, MIR4733HG +1 more (A3G)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 951161	NM_001042492.3(NF1):c.8C>T (p.Ala3Val)	LOC111811965, MIR4733HG +1 more (A3V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2478803	NM_001042492.3(NF1):c.9G>T (p.Ala3=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1624271	NM_001042492.3(NF1):c.9G>A (p.Ala3=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +2 more	GLikely benign
Select item 1072626	NM_001042492.3(NF1):c.9del (p.His4fs)	LOC111811965, MIR4733HG +1 more (H4fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2082955	NM_001042492.3(NF1):c.10del (p.His4fs)	LOC111811965, MIR4733HG +1 more (H4fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1438543	NM_001042492.3(NF1):c.10C>T (p.His4Tyr)	LOC111811965, MIR4733HG +1 more (H4Y)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 851752	NM_001042492.3(NF1):c.10C>A (p.His4Asn)	LOC111811965, MIR4733HG +1 more (H4N)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1769357	NM_001042492.3(NF1):c.12C>T (p.His4=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1771751	NM_001042492.3(NF1):c.13A>C (p.Arg5=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1487081	NM_001042492.3(NF1):c.13A>G (p.Arg5Gly)	LOC111811965, MIR4733HG +1 more (R5G)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GUncertain significance
Select item 819120	NM_001042492.3(NF1):c.13A>T (p.Arg5Trp)	LOC111811965, MIR4733HG +1 more (R5W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2961289	NM_001042492.3(NF1):c.14G>C (p.Arg5Thr)	LOC111811965, MIR4733HG +1 more (R5T)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurofibromatosis, type 1	GUncertain significance
Select item 369956	NM_001042492.3(NF1):c.15del (p.Arg5fs)	LOC111811965, MIR4733HG +1 more (R5fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 2169589	NM_001042492.3(NF1):c.15G>A (p.Arg5=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 578123	NM_001042492.3(NF1):c.15G>T (p.Arg5Ser)	LOC111811965, MIR4733HG +1 more (R5S)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 618757	NM_001042492.3(NF1):c.16C>T (p.Pro6Ser)	LOC111811965, MIR4733HG +1 more (P6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1780354	NM_001042492.3(NF1):c.17C>A (p.Pro6Gln)	LOC111811965, MIR4733HG +1 more (P6Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1320710	NM_001042492.3(NF1):c.17C>G (p.Pro6Arg)	LOC111811965, MIR4733HG +1 more (P6R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance

<< First< Prev

Page of 145