ClinVar for Gene (Select 4763) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372695	NM_001042492.3(NF1):c.24dup (p.Trp9fs)	LOC111811965, MIR4733HG +1 more (W9fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 3372683	NM_001042492.3(NF1):c.5432_5433insTT (p.Phe1812fs)	NF1 (F1791fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 3372313	NM_001042492.3(NF1):c.5962A>G (p.Met1988Val)	NF1 (M1967V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371931	NM_001042492.3(NF1):c.2505G>C (p.Gln835His)	NF1 (Q835H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371649	NM_001042492.3(NF1):c.5791A>T (p.Ile1931Phe)	NF1 (I1910F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370892	NM_001042492.3(NF1):c.6044T>G (p.Ile2015Ser)	NF1 (I1994S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370521	NM_001042492.3(NF1):c.976_979dup (p.Leu327fs)	NF1 (L327fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 3370277	NM_001042492.3(NF1):c.3206_3207dup (p.Gln1070fs)	NF1 (Q1070fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 3369955	NM_001042492.3(NF1):c.7747A>G (p.Arg2583Gly)	NF1 (R2562G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369946	NM_001042492.3(NF1):c.1048G>C (p.Val350Leu)	NF1 (V350L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369840	NM_001042492.3(NF1):c.8113+86A>G	NF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3369002	NM_001042492.3(NF1):c.7207C>T (p.Pro2403Ser)	NF1 (P2382S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368600	NM_001042492.3(NF1):c.6110C>T (p.Ala2037Val)	NF1 (A2016V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367904	NM_001042492.3(NF1):c.3092T>G (p.Phe1031Cys)	NF1 (F1031C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367902	NM_001042492.3(NF1):c.7738+6A>G	NF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3367195	NM_001042492.3(NF1):c.3193dup (p.Thr1065fs)	NF1 (T1065fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 3366540	NM_001042492.3(NF1):c.6372_6373del (p.Leu2125fs)	NF1 (L2104fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 3366073	NM_001042492.3(NF1):c.4673A>C (p.His1558Pro)	NF1 (H1537P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365327	NM_001042492.3(NF1):c.7030A>T (p.Thr2344Ser)	NF1 (T2323S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364181	NM_001042492.3(NF1):c.164T>G (p.Ile55Arg)	NF1 (I55R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363691	NM_001042492.3(NF1):c.8206G>C (p.Asp2736His)	NF1 (D2715H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363613	NM_001042492.3(NF1):c.5042A>T (p.Asn1681Ile)	NF1 (N1660I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363306	NM_001042492.3(NF1):c.482T>G (p.Leu161Ter)	NF1 (L161*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3363206	NM_001042492.3(NF1):c.204+5G>A	NF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3363163	NM_001042492.3(NF1):c.7586del (p.Pro2529fs)	NF1 (P2508fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 3362610	NM_001042492.3(NF1):c.7739-5_7740dup	NF1	Duplication (splice acceptor variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 3362537	NM_001042492.3(NF1):c.4554dup (p.Gly1519fs)	NF1 (G1498fs +1 more)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 3362245	NM_001042492.3(NF1):c.7791del (p.Val2598fs)	NF1 (V2577fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 3361875	NM_001042492.3(NF1):c.3426G>C (p.Arg1142Ser)	NF1 (R1142S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361307	NM_001042492.3(NF1):c.3220del (p.Glu1074fs)	NF1 (E1074fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3361243	NM_001042492.3(NF1):c.4836-29507T>C	NF1 (K7E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360869	NM_001042492.3(NF1):c.4007A>T (p.Gln1336Leu)	NF1 (Q1336L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360819	NM_001042492.3(NF1):c.1129del (p.Ile377fs)	NF1 (I377fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3360310	NM_001042492.3(NF1):c.5786A>G (p.Glu1929Gly)	NF1 (E1908G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360307	NM_001042492.3(NF1):c.3890T>A (p.Leu1297Gln)	NF1 (L1297Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360051	NM_001042492.3(NF1):c.5179C>A (p.Pro1727Thr)	NF1 (P1706T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359103	NM_001042492.3(NF1):c.5523dup (p.His1842fs)	NF1 (H1821fs +1 more)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 3359090	NM_001042492.3(NF1):c.1527+1187C>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 3359001	NM_001042492.3(NF1):c.837_838del (p.Glu279fs)	NF1 (E279fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 3358707	NM_001042492.3(NF1):c.935dup (p.Ser313fs)	NF1 (S313fs)	Duplication (frameshift variant)	NF1-related disorder	GPathogenic
Select item 3355686	NM_001042492.3(NF1):c.6413del (p.Gln2138fs)	NF1 (Q2117fs +1 more)	Deletion (frameshift variant)	NF1-related disorder	GPathogenic
Select item 3354366	NM_001042492.3(NF1):c.3198-9_3198-4del	NF1	Deletion (intron variant)	NF1-related disorder	GLikely benign
Select item 3354228	NM_001042492.3(NF1):c.1642-452A>T	NF1	Single nucleotide variant (intron variant)	NF1-related disorder	GLikely benign
Select item 3350511	NM_001042492.3(NF1):c.2851-161G>C	NF1	Single nucleotide variant (intron variant)	NF1-related disorder	GLikely benign
Select item 3348162	NM_001042492.3(NF1):c.1463G>C (p.Ser488Thr)	NF1 (S488T)	Single nucleotide variant (missense variant)	NF1-related disorder	GUncertain significance
Select item 3347585	NM_001042492.3(NF1):c.1868A>C (p.His623Pro)	NF1 (H623P)	Single nucleotide variant (missense variant)	NF1-related disorder	GUncertain significance
Select item 3347396	NM_001042492.3(NF1):c.4643C>T (p.Pro1548Leu)	NF1 (P1527L +1 more)	Single nucleotide variant (missense variant)	NF1-related disorder	GUncertain significance
Select item 3347381	NM_001042492.3(NF1):c.1063-5T>A	NF1	Single nucleotide variant (intron variant)	NF1-related disorder	GUncertain significance
Select item 3347038	NM_001042492.3(NF1):c.4111-384G>A	NF1	Single nucleotide variant (intron variant)	NF1-related disorder	GLikely benign
Select item 3346753	NM_001042492.3(NF1):c.2213del (p.Phe738fs)	NF1 (F738fs)	Deletion (frameshift variant)	NF1-related disorder	GPathogenic
Select item 3346004	NM_001042492.3(NF1):c.5642dup (p.Cys1882fs)	NF1 (C1861fs +1 more)	Duplication (frameshift variant)	NF1-related disorder	GPathogenic
Select item 3345627	NM_001042492.3(NF1):c.823_827dup (p.Cys277fs)	NF1 (C277fs)	Duplication (frameshift variant)	NF1-related disorder	GLikely pathogenic
Select item 3345413	NM_001042492.3(NF1):c.4877_4878delinsCA (p.His1626Pro)	NF1 (H1605P +1 more)	Indel (missense variant)	NF1-related disorder	GLikely pathogenic
Select item 3344233	NM_001042492.3(NF1):c.4126C>T (p.Leu1376=)	NF1	Single nucleotide variant (synonymous variant +1 more)	NF1-related disorder	GLikely benign
Select item 3343861	NM_001042492.3(NF1):c.7102G>T (p.Glu2368Ter)	NF1 (E2347* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3343860	NM_001042492.3(NF1):c.6491del (p.Leu2164fs)	NF1 (L2143fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3343628	NM_001042492.3(NF1):c.4469A>T (p.Asp1490Val)	NF1 (D1469V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343385	NM_001042492.3(NF1):c.3482T>A (p.Leu1161His)	NF1 (L1161H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343057	NM_001042492.3(NF1):c.6950G>T (p.Trp2317Leu)	NF1 (W2296L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342718	NM_001042492.3(NF1):c.1520del (p.Leu507fs)	NF1 (L507fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3342683	NM_001042492.3(NF1):c.6095C>T (p.Ala2032Val)	NF1 (A2011V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342642	NM_001042492.3(NF1):c.4207_4208insCCCG (p.Gly1403fs)	NF1 (G1382fs +1 more)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 3342572	NM_001042492.3(NF1):c.1123_1130del (p.Asp374_Leu375insTer)	NF1	Deletion (nonsense)	not provided	GPathogenic
Select item 3342165	NM_001042492.3(NF1):c.6002G>C (p.Gly2001Ala)	NF1 (G1980A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3342071	NM_001042492.3(NF1):c.5680_5683del (p.Glu1894fs)	NF1 (E1873fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3341994	NC_000017.11:g.31379000_31379017del	NF1	Deletion	not provided	GLikely benign
Select item 3341696	NM_001042492.3(NF1):c.3198-12_3198-4del	NF1	Deletion (intron variant)	not provided	GLikely benign
Select item 3340618	NM_001042492.3(NF1):c.3286A>T (p.Met1096Leu)	NF1 (M1096L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340504	NM_001042492.3(NF1):c.5907_5910del (p.Arg1970fs)	NF1 (R1949fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, familial spinal +4 more	GPathogenic
Select item 3340241	NM_001042492.3(NF1):c.730G>T (p.Glu244Ter)	NF1 (E244*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3339827	NM_001042492.3(NF1):c.8220C>T (p.Asp2740=)	NF1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3338875	NM_001042492.3(NF1):c.1413_1414del (p.Lys471fs)	NF1 (K471fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3338874	NM_001042492.3(NF1):c.1392+2T>A	NF1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3338873	NM_001042492.3(NF1):c.1149C>A (p.Cys383Ter)	NF1 (C383*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3338872	NM_001042492.3(NF1):c.61-1G>C	NF1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3338694	NM_001042492.3(NF1):c.1417_1418insG (p.Thr473fs)	NF1 (T473fs)	Insertion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 3338287	NM_001042492.3(NF1):c.7248_7249del (p.Leu2417fs)	NF1 (L2396fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 3338017	NM_001042492.3(NF1):c.425_439del (p.Leu142_Ser146del)	NF1	Deletion (inframe deletion)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 3337983	NM_001042492.3(NF1):c.1929_1948del (p.Met643fs)	NF1 (M643fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 3337391	NM_001042492.3(NF1):c.6148-6T>G	NF1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 3337390	NM_001042492.3(NF1):c.5454dup (p.Ala1819fs)	NF1 (A1798fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3337389	NM_001042492.3(NF1):c.5264delinsAA (p.Ile1755fs)	NF1 (I1734fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 3337388	NM_001042492.3(NF1):c.3388del (p.Arg1130fs)	NF1 (R1130fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3336810	NM_001042492.3(NF1):c.1548del (p.Glu517fs)	NF1 (E517fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 3336802	NM_001042492.3(NF1):c.2427_2428dup (p.Lys810fs)	NF1 (K810fs)	Microsatellite (frameshift variant)	Neurofibromatosis	GPathogenic
Select item 3336144	NM_001042492.3(NF1):c.3901C>G (p.Leu1301Val)	NF1 (L1301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302308	NM_002544.5(OMG):c.1076A>G (p.Asp359Gly)	NF1, OMG (D359G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302307	NM_002544.5(OMG):c.799T>C (p.Tyr267His)	NF1, OMG (Y267H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302306	NM_002544.5(OMG):c.713T>C (p.Leu238Ser)	NF1, OMG (L238S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302305	NM_002544.5(OMG):c.926C>T (p.Thr309Ile)	NF1, OMG (T309I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3276664	NM_014210.4(EVI2A):c.382G>A (p.Glu128Lys)	EVI2A, NF1 (E128K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276663	NM_014210.4(EVI2A):c.361T>G (p.Phe121Val)	EVI2A, NF1 (F121V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258039	NM_001042492.3(NF1):c.3774G>A (p.Trp1258Ter)	NF1 (W1258*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3257841	NM_001042492.3(NF1):c.7735del (p.Met2579fs)	NF1 (M2558fs +1 more)	Deletion (frameshift variant)	Neoplasm	OLikely oncogenic
Select item 3257476	NM_001042492.3(NF1):c.1484_1485insA (p.Met496fs)	NF1 (M496fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 3257430	NM_001042492.3(NF1):c.1708_1721del (p.Phe570fs)	NF1 (F570fs)	Deletion (frameshift variant)	not provided	GPathogenic
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

<< First< Prev

Page of 10