All transcript variants in gene OMG

Information The variants shown are described using the NM_002544.4 transcript reference sequence.

1432 entries on 15 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.-81780A>G benign r.(?) p.(=) g.29705947T>C - NF1(NM_000267.3):NULL - EVI2A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-77035T>C VUS r.(?) p.(=) g.29701202A>G - NF1(NM_000267.3):c.*29A>G - NF1_001824 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-77028T>C VUS r.(?) p.(=) g.29701195A>G - NF1(NM_000267.3):c.*22A>G - NF1_001431 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-77001C>T VUS r.(?) p.(=) g.29701168G>A - NF1(NM_000267.3):c.8452G>A (p.V2818M) - NF1_000935 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-76985A>G likely benign r.(?) p.(=) g.29701152T>C - NF1(NM_000267.3):c.8436T>C (p.N2812=) - NF1_000934 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-76937G>A likely benign r.(?) p.(=) g.29701104C>T - NF1(NM_000267.3):c.8388C>T (p.S2796=) - NF1_001482 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-76931G>A likely benign r.(?) p.(=) g.29701098C>T - NF1(NM_001042492.2):c.8445C>T (p.H2815=) - EVI2A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-76894G>A benign r.(?) p.(=) g.29701061C>T - NF1(NM_000267.3):c.8345C>T (p.P2782L) - NF1_001122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-70128T>C VUS r.(?) p.(=) g.29694295A>G - NF1(NM_000267.3):c.8314+6574A>G - NF1_001955 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-63721_-63718dup benign r.(?) p.(=) g.29687885_29687888dup - NF1(NM_000267.3):c.8314+165_8314+168dupAAGG - NF1_001119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-63684_-63682del benign r.(?) p.(=) g.29687849_29687851del - NF1(NM_000267.3):c.8314+128_8314+130delTTT - NF1_001118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-63574T>C benign r.(?) p.(=) g.29687741A>G - NF1(NM_000267.3):c.8314+20A>G - NF1_001120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-63544C>T likely benign r.(?) p.(=) g.29687711G>A - NF1(NM_000267.3):c.8304G>A (p.Q2768=) - NF1_001481 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-63508G>T VUS r.(?) p.(=) g.29687675C>A - NF1(NM_000267.3):c.8268C>A (p.N2756K) - NF1_002479 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-63404G>C VUS r.(?) p.(=) g.29687571C>G - NF1(NM_000267.3):c.8164C>G (p.L2722V) - NF1_000931 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-63367A>T likely benign r.(?) p.(=) g.29687534T>A - NF1(NM_000267.3):c.8127T>A (p.L2709=) - NF1_002478 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-63337C>T pathogenic r.(?) p.(=) g.29687504G>A - NF1(NM_000267.3):c.8098-1G>A - NF1_000929 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-63335G>A likely benign r.(?) p.(=) g.29687502C>T - NF1(NM_000267.3):c.8098-3C>T - NF1_001953 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-61863del pathogenic r.(?) p.(=) g.29686032del - NF1(NM_000267.3):c.8096delA (p.K2699Sfs*19) - NF1_000928 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-61861_-61858del pathogenic r.(?) p.(=) g.29686025_29686028del - NF1(NM_000267.3):c.8089_8092delTTTT (p.F2697Qfs*20) - NF1_000927 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-61857C>T likely benign r.(?) p.(=) g.29686024G>A - NF1(NM_000267.3):c.8088G>A (p.P2696=) - NF1_001439 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.-61818T>A pathogenic r.(?) p.(=) g.29685985A>T - NF1(NM_000267.3):c.8051-2A>T - NF1_000926 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-61790C>T likely benign r.(?) p.(=) g.29685957G>A - NF1(NM_000267.3):c.8051-30G>A - NF1_001952 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-61750T>A likely benign r.(?) p.(=) g.29685917A>T - NF1(NM_000267.3):c.8051-70A>T - EVI2A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-61494del benign r.(?) p.(=) g.29685662del - NF1(NM_000267.3):c.8050+22delA - NF1_001117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-61493C>T benign r.(?) p.(=) g.29685660G>A - NF1(NM_000267.3):c.8050+20G>A, NF1(NM_001042492.2):c.8113+20G>A - NF1_001116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.-61493C>T benign r.(?) p.(=) g.29685660G>A - NF1(NM_000267.3):c.8050+20G>A, NF1(NM_001042492.2):c.8113+20G>A - NF1_001116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.-61471del pathogenic r.(?) p.(=) g.29685640del - NF1(NM_000267.3):c.8050delA (p.S2684Vfs*34) - NF1_000925 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-61466del pathogenic r.(?) p.(=) g.29685634del - NF1(NM_000267.3):c.8044delC (p.L2682Cfs*36) - NF1_001480 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-61457T>C likely benign r.(?) p.(=) g.29685624A>G - NF1(NM_000267.3):c.8034A>G (p.Q2678=) - NF1_002477 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-61433dup pathogenic r.(?) p.(=) g.29685600dup - NF1(NM_000267.3):c.8010dupT (p.E2671*) - NF1_000922 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.-61430G>T pathogenic r.(?) p.(=) g.29685597C>A - NF1(NM_000267.3):c.8007C>A (p.Y2669*) - NF1_001951 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-61421A>G benign r.(?) p.(=) g.29685588T>C - NF1(NM_000267.3):c.7998T>C (p.S2666=) - NF1_001115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-61421_-61420del pathogenic r.(?) p.(=) g.29685590_29685591del - NF1(NM_000267.3):c.8000_8001delTG (p.V2667Gfs*4) - NF1_000921 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-61418_-61417del pathogenic r.(?) p.(=) g.29685586_29685587del - NF1(NM_000267.3):c.7996_7997delAG (p.S2666Cfs*5) - NF1_000920 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-61416G>A pathogenic r.(?) p.(=) g.29685583C>T - NF1(NM_000267.3):c.7993C>T (p.Q2665*) - NF1_000919 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-61401T>C likely benign r.(?) p.(=) g.29685568A>G - NF1(NM_001042492.2):c.8041A>G (p.I2681V) - NF1_001395 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.-61393A>T pathogenic r.(?) p.(=) g.29685560T>A - NF1(NM_000267.3):c.7970T>A (p.L2657*) - NF1_000918 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-61360_-61358delinsTT pathogenic r.(?) p.(=) g.29685525_29685527delinsAA - NF1(NM_000267.3):c.7935_7937delCACinsAA (p.N2645Kfs*13) - NF1_000917 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-61357T>C likely benign r.(?) p.(=) g.29685524A>G - NF1(NM_001042492.2):c.7997A>G (p.N2666S) - NF1_002476 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-61349dup pathogenic r.(?) p.(=) g.29685516dup - NF1(NM_000267.3):c.7926dupT (p.K2643*) - NF1_000916 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.-61332del pathogenic r.(?) p.(=) g.29685499del - NF1(NM_000267.3):c.7909delC (p.H2637Ifs*21) - NF1_002474 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-61331C>A likely benign r.(?) p.(=) g.29685498G>T - NF1(NM_000267.3):c.7908G>T (p.(=)) - EVI2A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-61330C>A likely benign r.(?) p.(=) g.29685497G>T - NF1(NM_000267.3):c.7908-1G>T (p.?) - NF1_002473 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-61329T>A likely benign r.(?) p.(=) g.29685496A>T - NF1(NM_000267.3):c.7908-2A>T (p.?) - EVI2A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-61328A>C VUS r.(?) p.(=) g.29685495T>G - NF1(NM_000267.3):c.7908-3T>G - NF1_001950 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-61315del likely benign r.(?) p.(=) g.29685490del - NF1(NM_000267.3):c.7908-8delT, NF1(NM_001042492.2):c.7971-8delT - NF1_002472 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.-61315del benign r.(?) p.(=) g.29685490del - NF1(NM_000267.3):c.7908-8delT, NF1(NM_001042492.2):c.7971-8delT - NF1_001114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.-61314G>C pathogenic r.(?) p.(=) g.29685481C>G - NF1(NM_000267.3):c.7908-17C>G - NF1_001111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-61312C>A benign r.(?) p.(=) g.29685479G>T - NF1(NM_000267.3):c.7908-19G>T, NF1(NM_001042492.2):c.7971-19G>T - NF1_001112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.-61312C>A benign r.(?) p.(=) g.29685479G>T - NF1(NM_000267.3):c.7908-19G>T, NF1(NM_001042492.2):c.7971-19G>T - NF1_001112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.-61307G>A benign r.(?) p.(=) g.29685474C>T - NF1(NM_000267.3):c.7908-24C>T - NF1_001113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-60250G>T benign r.(?) p.(=) g.29684417C>A - NF1(NM_000267.3):c.7907+30C>A - NF1_001110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-60223T>C VUS r.(?) p.(=) g.29684390A>G - NF1(NM_000267.3):c.7907+3A>G - EVI2A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-60223T>G VUS r.(?) p.(=) g.29684390A>C - NF1(NM_000267.3):c.7907+3A>C - NF1_001949 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-60221C>T pathogenic r.(?) p.(=) g.29684388G>A - NF1(NM_000267.3):c.7907+1G>A - NF1_001948 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-60217del pathogenic r.(?) p.(=) g.29684385del - NF1(NM_000267.3):c.7905delT (p.V2636Cfs*22) - NF1_000915 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-60204del pathogenic r.(?) p.(=) g.29684373del - NF1(NM_000267.3):c.7893delA (p.V2632Sfs*26) - NF1_000914 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-60204dup pathogenic r.(?) p.(=) g.29684373dup - NF1(NM_000267.3):c.7893dupA (p.V2632Sfs*7) - NF1_001947 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-60198del pathogenic r.(?) p.(=) g.29684367del - NF1(NM_000267.3):c.7887delT (p.V2632Sfs*26) - NF1_000913 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-60191del pathogenic r.(?) p.(=) g.29684358del - NF1(NM_000267.3):c.7878delT (p.S2626Rfs*32) - NF1_000911 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-60180C>G VUS r.(?) p.(=) g.29684347G>C - NF1(NM_000267.3):c.7867G>C (p.A2623P) - NF1_001946 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-60160C>T benign r.(?) p.(=) g.29684327G>A - NF1(NM_000267.3):c.7847G>A (p.R2616Q) - NF1_001108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-60159G>A pathogenic r.(?) p.(=) g.29684326C>T - NF1(NM_000267.3):c.7846C>T (p.R2616*) - NF1_000910 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-60145T>C pathogenic r.(?) p.(=) g.29684312A>G - NF1(NM_000267.3):c.7832A>G (p.D2611G) - NF1_000909 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-60128C>T benign r.(?) p.(=) g.29684295G>A - NF1(NM_000267.3):c.7815G>A (p.L2605=) - NF1_001107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-60122A>T likely benign r.(?) p.(=) g.29684289T>A - NF1(NM_000267.3):c.7809T>A (p.A2603=) - NF1_001945 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-60119C>T pathogenic r.(?) p.(=) g.29684286G>A - NF1(NM_000267.3):c.7807-1G>A - NF1_000906 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-60118T>C pathogenic r.(?) p.(=) g.29684285A>G - NF1(NM_000267.3):c.7807-2A>G - NF1_000907 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-60102dup benign r.(?) p.(=) g.29684274dup - NF1(NM_000267.3):c.7807-13dupT - NF1_001106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-59963C>T benign r.(?) p.(=) g.29684130G>A - NF1(NM_000267.3):c.7806+22G>A - NF1_001105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.-59944T>A likely pathogenic r.(?) p.(=) g.29684111A>T - NF1(NM_000267.3):c.7806+3A>T - EVI2A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.-59933dup pathogenic r.(?) p.(=) g.29684100dup - NF1(NM_000267.3):c.7798dupA (p.T2600Nfs*13) - NF1_000905 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.-59918G>A pathogenic r.(?) p.(=) g.29684085C>T - NF1(NM_000267.3):c.7783C>T (p.Q2595*) - NF1_000904 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-59917_-59904del pathogenic r.(?) p.(=) g.29684072_29684085del - NF1(NM_000267.3):c.7770_7783delTGATCCGAAGATCC (p.D2591Gfs*17) - NF1_001944 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.-59894dup pathogenic r.(?) p.(=) g.29684061dup - NF1(NM_000267.3):c.7759dupG (p.E2587Gfs*5) - NF1_000903 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.-59886A>T pathogenic r.(?) p.(=) g.29684053T>A - NF1(NM_000267.3):c.7751T>A (p.L2584*) - NF1_001400 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-59875del pathogenic r.(?) p.(=) g.29684044del - NF1(NM_000267.3):c.7742delA (p.N2581Mfs*22) - NF1_000902 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-59870C>A pathogenic r.(?) p.(=) g.29684037G>T - NF1(NM_000267.3):c.7735G>T (p.E2579*) - NF1_000901 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-59864del pathogenic r.(?) p.(=) g.29684031del - NF1(NM_000267.3):c.7729delG (p.V2577Cfs*26) - NF1_001943 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-59862G>T pathogenic r.(?) p.(=) g.29684029C>A - NF1(NM_000267.3):c.7727C>A (p.S2576*) - NF1_001942 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-59855T>A pathogenic r.(?) p.(=) g.29684022A>T - NF1(NM_000267.3):c.7720A>T (p.K2574*) - NF1_000900 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-59850A>C pathogenic r.(?) p.(=) g.29684017T>G - NF1(NM_000267.3):c.7715T>G (p.L2572*) - NF1_000899 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-59839C>G VUS r.(?) p.(=) g.29684006G>C - NF1(NM_001042492.2):c.7767G>C (p.Q2589H) - EVI2A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-59836T>C benign r.(?) p.(=) g.29684003A>G - NF1(NM_000267.3):c.7701A>G (p.Q2567=) - NF1_001104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-59834G>A pathogenic r.(?) p.(=) g.29684001C>T - NF1(NM_000267.3):c.7699C>T (p.Q2567*) - NF1_000898 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-59827G>A benign r.(?) p.(=) g.29683994C>T - NF1(NM_000267.3):c.7692C>T (p.S2564=), NF1(NM_001042492.2):c.7755C>T (p.S2585=) - NF1_001103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.-59827G>A benign r.(?) p.(=) g.29683994C>T - NF1(NM_000267.3):c.7692C>T (p.S2564=), NF1(NM_001042492.2):c.7755C>T (p.S2585=) - NF1_001103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.-59816G>A pathogenic r.(?) p.(=) g.29683983C>T - NF1(NM_000267.3):c.7681C>T (p.Q2561*) - NF1_000897 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-59788C>T benign r.(?) p.(=) g.29683955G>A - NF1(NM_000267.3):c.7676-23G>A - NF1_001102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-59421_-59420del pathogenic r.(?) p.(=) g.29683587_29683588del - NF1(NM_000267.3):c.7662_7663delTG (p.D2555Lfs*2) - NF1_000896 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-59396G>T benign r.(?) p.(=) g.29683563C>A - NF1(NM_000267.3):c.7638C>A (p.P2546=) - NF1_001100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-59391del pathogenic r.(?) p.(=) g.29683563del - NF1(NM_000267.3):c.7638delC (p.M2548*) - NF1_001940 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-59362del pathogenic r.(?) p.(=) g.29683530del - NF1(NM_000267.3):c.7605delG (p.R2535Sfs*14) - NF1_001939 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-59358del pathogenic r.(?) p.(=) g.29683528del - NF1(NM_000267.3):c.7603delA (p.R2535Gfs*14) - NF1_000895 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-59318C>T likely benign r.(?) p.(=) g.29683485G>A - NF1(NM_000267.3):c.7560G>A (p.R2520=), NF1(NM_001042492.2):c.7623G>A (p.R2541=) - NF1_001099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.-59318C>T likely benign r.(?) p.(=) g.29683485G>A - NF1(NM_000267.3):c.7560G>A (p.R2520=), NF1(NM_001042492.2):c.7623G>A (p.R2541=) - NF1_001099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.-59318C>T benign r.(?) p.(=) g.29683485G>A - NF1(NM_000267.3):c.7560G>A (p.R2520=), NF1(NM_001042492.2):c.7623G>A (p.R2541=) - NF1_001099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-55245G>A likely benign r.(?) p.(=) g.29679412C>T - NF1(NM_000267.3):c.7532C>T (p.A2511V) - NF1_000894 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-55234T>C likely benign r.(?) p.(=) g.29679401A>G - NF1(NM_000267.3):c.7521A>G (p.Q2507=), NF1(NM_001042492.2):c.7584A>G (p.Q2528=) - NF1_001098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »