"Medical Genomics Laboratory, Department of Genetics UAB"[submitter] A - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 217034	NM_000267.3(NF1):c.61-16315_479+99del	LOC108281170, LOC108281180 +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 217033	NM_000267.3(NF1):c.61-12088_204+933del	LOC108281169, LOC108281170 +1 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 217105	NM_001042492.3(NF1):c.61-6522_204+1022dup	NF1	Duplication (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 217032	NM_001042492.3(NF1):c.61-5189_205-1285del	LOC108281170, LOC108281169 +1 more	Deletion (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 217037	NM_001042492.3(NF1):c.205-1284_289-944del	LOC108281180, LOC108281170 +1 more	Deletion (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 816721	NM_001042492.3(NF1):c.205-19T>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 816750	NM_001042492.3(NF1):c.205-6T>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 217039	NM_000267.3(NF1):c.288+230_480-1812delins323	LOC108281180, NF1	Indel	Neurofibromatosis, type 1	GPathogenic
Select item 217042	NM_000267.3(NF1):c.289-1237_586+3325del	LOC108281180, NF1	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 217106	NM_000267.3(NF1):c.289-1171_888+1963dup	LOC108281181, LOC108281180 +1 more	Duplication	Neurofibromatosis, type 1	GPathogenic
Select item 217040	NM_000267.3(NF1):c.289-956_586+4999del	LOC108281180, NF1	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 217041	NM_000267.3(NF1):c.289-950_586+3043del	LOC108281180, NF1	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 217043	NM_001042492.3(NF1):c.480-2989_586+3445del	NF1	Deletion (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 217044	NM_000267.3(NF1):c.480-2832_888+5938delinsTTGAA	LOC108281181, NF1	Indel	Neurofibromatosis, type 1	GPathogenic
Select item 816722	NM_001042492.3(NF1):c.480-8C>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 217047	NM_000267.3(NF1):c.586+2095_1261-2276delinsGTGG	LOC108281181, NF1	Indel	Neurofibromatosis, type 1	GPathogenic
Select item 217048	NM_000267.3(NF1):c.586+3099_1261-1045del	LOC108281181, NF1	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 217046	NM_001042492.3(NF1):c.587-1766_888+1856del	LOC108281181, NF1	Deletion (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 816742	NM_001042492.3(NF1):c.587-15_587-14del	NF1	Deletion (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 816723	NM_001042492.3(NF1):c.587-14T>A	NF1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 481968	NM_001042492.3(NF1):c.587-3C>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 217051	NM_000267.3(NF1):c.655-60_888+5621delins135	LOC108281181, NF1	Indel	Neurofibromatosis, type 1	GPathogenic
Select item 816743	NM_001042492.3(NF1):c.655-12_655-9del	NF1	Deletion (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 816724	NM_001042492.3(NF1):c.731-14T>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 217054	NM_000267.3(NF1):c.888+5515_1261-1635del	NF1	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 217057	NM_000267.3(NF1):c.888+8334_1721+34delinsTC	NF1	Indel	Neurofibromatosis, type 1	GPathogenic
Select item 217055	NM_000267.3(NF1):c.889-8107_1261-278del	NF1	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 217056	NM_001042492.3(NF1):c.889-894_1261-284del	NF1	Deletion (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 217053	NM_001042492.3(NF1):c.889-453_908del	NF1	Deletion (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 816725	NM_001042492.3(NF1):c.889-21C>A	NF1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 816751	NM_001042492.3(NF1):c.1063-14T>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 428940	NM_001042492.3(NF1):c.1063-13G>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 816773	NM_001042492.3(NF1):c.1063-3T>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 816752	NM_001042492.3(NF1):c.1261-21T>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 816753	NM_001042492.3(NF1):c.1261-19G>A	NF1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 816754	NM_001042492.3(NF1):c.1261-13T>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 217064	NM_000267.3(NF1):c.1393-3329_3975-6377del	NF1	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 217062	NM_001042492.3(NF1):c.1393-2652_1528-892del	NF1	Deletion (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 217063	NM_001042492.3(NF1):c.1393-2488_1642-648delinsAATAG	NF1	Indel (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 217107	NM_000267.3(NF1):c.1393-1905_2251+85dup	NF1	Duplication	Neurofibromatosis, type 1	GPathogenic
Select item 217108	NM_000267.3(NF1):c.1527+443_3709-761dup	NF1	Duplication	Neurofibromatosis, type 1	GPathogenic
Select item 217065	NM_001042492.3(NF1):c.1527+1509_1641+1137del	NF1	Deletion (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 217066	NM_001042492.3(NF1):c.1528-960_1761del	NF1	Deletion (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 217067	NM_000267.3(NF1):c.1641+156_3975-2222del	NF1	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 816755	NM_001042492.3(NF1):c.1642-10A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 816756	NM_001042492.3(NF1):c.1642-7A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 648709	NM_001042492.3(NF1):c.1642-3C>G	NF1	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic
Select item 816726	NM_001042492.3(NF1):c.1722-26T>C	NF1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 816744	NM_001042492.3(NF1):c.1722-20_1722-17del	NF1	Deletion (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 816745	NM_001042492.3(NF1):c.1722-8_1722-3delinsAAAA	NF1	Indel (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 816764	NM_001042492.3(NF1):c.1722-3C>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GConflicting classifications of pathogenicity
Select item 217070	NM_000267.3(NF1):c.1845+537_4661+331del	NF1	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 217068	NM_001042492.3(NF1):c.1846-496_2410-645delinsTAGC	NF1	Indel (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 217069	NM_001042492.3(NF1):c.1988_2410-218delinsTGTC	NF1	Indel (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 267490	NG_009018.1(NF1):g.[134769_136954del2186;136931_139830del2900]	NF1	Deletion (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 217109	NM_001042492.3(NF1):c.2252-70_2326-39dup	NF1	Duplication (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 816746	NM_001042492.3(NF1):c.2252-33_2252-8del	NF1	Deletion (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 816727	NM_001042492.3(NF1):c.2252-13T>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 374022	NM_001042492.3(NF1):c.2252-3T>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +7 more	GPathogenic/Likely pathogenic
Select item 816728	NM_001042492.3(NF1):c.2326-6T>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 231081	NM_001042492.3(NF1):c.2326-3T>G	NF1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 217073	NM_001042492.3(NF1):c.2410-110_2850+65delinsAAAA	NF1	Indel (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 579654	NM_001042492.3(NF1):c.2410-18C>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 572474	NM_001042492.3(NF1):c.2410-16A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 816757	NM_001042492.3(NF1):c.2410-15A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 816758	NM_001042492.3(NF1):c.2410-14A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 804167	NM_001042492.3(NF1):c.2410-13A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 816759	NM_001042492.3(NF1):c.2410-9T>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 816765	NM_001042492.3(NF1):c.2410-3T>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GConflicting classifications of pathogenicity
Select item 694606	NM_001042492.3(NF1):c.2524_2531delinsAGCTTCCA (p.Gly842_Leu844delinsSerPheHis)	NF1	Indel (missense variant)	Neurofibromatosis, type 1	GPathogenic
Select item 68321	NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe)	NF1 (L844F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 694605	NM_001042492.3(NF1):c.2531T>A (p.Leu844His)	NF1 (L844H)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic
Select item 68322	NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro)	NF1 (L844P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 373	NM_001042492.3(NF1):c.2531T>G (p.Leu844Arg)	NF1 (L844R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic
Select item 404431	NM_001042492.3(NF1):c.2533T>C (p.Cys845Arg)	NF1 (C845R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic
Select item 404587	NM_001042492.3(NF1):c.2534G>A (p.Cys845Tyr)	NF1 (C845Y)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic
Select item 694607	NM_001042492.3(NF1):c.2536G>C (p.Ala846Pro)	NF1 (A846P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic
Select item 457588	NM_001042492.3(NF1):c.2537C>A (p.Ala846Asp)	NF1 (A846D)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 573019	NM_001042492.3(NF1):c.2540T>G (p.Leu847Arg)	NF1 (L847R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 68323	NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)	NF1 (L847P)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 640216	NM_001042492.3(NF1):c.2542G>A (p.Gly848Arg)	NF1 (G848R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic
Select item 404588	NM_001042492.3(NF1):c.2542G>C (p.Gly848Arg)	NF1 (G848R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 68324	NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu)	NF1 (G848E)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GPathogenic
Select item 217110	NM_001042492.3(NF1):c.2851-151_2990+121dup	NF1	Duplication (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 647632	NM_001042492.3(NF1):c.2851-6_2851-3del	NF1	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic
Select item 816760	NM_001042492.3(NF1):c.2991-11del	NF1	Deletion (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 816761	NM_001042492.3(NF1):c.3114-8T>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 816774	NM_001042492.3(NF1):c.3114-3T>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 816729	NM_001042492.3(NF1):c.3315-8T>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 816766	NM_001042492.3(NF1):c.3315-3C>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 527517	NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)	NF1 (M1149V)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +8 more	GPathogenic/Likely pathogenic
Select item 660819	NM_001042492.3(NF1):c.3446T>C (p.Met1149Thr)	NF1 (M1149T)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic
Select item 566155	NM_001042492.3(NF1):c.3447G>C (p.Met1149Ile)	NF1 (M1149I)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 457650	NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)	NF1 (M1149I)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +5 more	GPathogenic/Likely pathogenic
Select item 420079	NM_001042492.3(NF1):c.3447G>A (p.Met1149Ile)	NF1 (M1149I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 217111	NM_000267.3(NF1):c.3496+57_4772+2639dup	NF1	Duplication	Neurofibromatosis, type 1	GPathogenic
Select item 217075	NM_000267.3(NF1):c.3708+598_4772+16224del	NF1	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 217074	NM_001042492.3(NF1):c.3709-941_3974+2711del	NF1	Deletion (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 68340	NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)	NF1 (R1276G)	Single nucleotide variant (missense variant)	not specified +5 more	GPathogenic/Likely pathogenic
Select item 694608	NM_001042492.3(NF1):c.3827G>T (p.Arg1276Leu)	NF1 (R1276L)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic

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