Full data view for gene C9orf72

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

97 entries on 1 page. Showing entries 1 - 97.
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DNA change (hg38)     

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+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#1 PubMed: Ozoguz 2015 3-generation family, affected father/daughter M - Turkey - - - - - 2 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#2 PubMed: Ozoguz 2015 4-generation family, 13 affected (6F, 7M) F - Turkey - - - - - 13 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#3 PubMed: Ozoguz 2015 6-generation family, 4 affected (2F, 2M) M - Turkey - - - - - 4 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#4 PubMed: Ozoguz 2015 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#5 PubMed: Ozoguz 2015 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#6 PubMed: Ozoguz 2015 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#7 PubMed: Ozoguz 2015 - F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#8 PubMed: Ozoguz 2015 - F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#9 PubMed: Ozoguz 2015 - F - Turkey - - - - - 2 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#10 PubMed: Ozoguz 2015 - M - Turkey - - - - - 3 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#11 PubMed: Ozoguz 2015 - F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#12 PubMed: Ozoguz 2015 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#13 PubMed: Ozoguz 2015 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#14 PubMed: Ozoguz 2015 - F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Ozoguz 2015 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72#15 PubMed: Ozoguz 2015 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72-S1 PubMed: Jiang 2022 - F - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72-S2 PubMed: Jiang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72-S3 PubMed: Jiang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72-S4 PubMed: Jiang 2022 - F - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - 1/486 cases - - - DNA PCRrp - - ALS C9ORF72-S5 PubMed: Jiang 2022 - F - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - >1/309 cases - - - DNA PCRrp - - ALS C9ORF72-S6 PubMed: Jiang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - >1/309 cases - - - DNA PCRrp - - ALS C9ORF72-S7 PubMed: Jiang 2022 - F - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - >1/309 cases - - - DNA PCRrp - - ALS C9ORF72-S8 PubMed: Jiang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - >1/309 cases - - - DNA PCRrp - - ALS C9ORF72-S9 PubMed: Jiang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - >1/309 cases - - - DNA PCRrp - - ALS C9ORF72-S10 PubMed: Jiang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.-45+168_-45+185CGGGGC[(30_?)] - r.? p.? Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - expansion - C9orf72_000000 - PubMed: Jiang 2022 - - Germline - >1/309 cases - - - DNA PCRrp - - ALS C9ORF72-S11 PubMed: Jiang 2022 - M - China - - - - - 1 Johan den Dunnen
-/. 1i c.(-45+2_-45+394)= CGGGGC[3] r.(?) p.(=) Parent #1 - benign g.(27573313_27573705)= g.(27573315_27573707)= G4C2[3] - C9orf72_000033 - PubMed: van der Zee - - Germline - <0.01 controls - - - DNA PCR - - Healthy/Control controls PubMed: van der Zee - - - Belgium - - - - - 1 Johan den Dunnen
-/. 1i c.(-45+2_-45+394)del(6) CGGGGC[2] r.(?) p.(=) Parent #1 - benign g.(27573313_27573705)del(6) g.(27573315_27573707)del(6) G4C2[2] - C9orf72_000032 - PubMed: van der Zee - - Germline - 0.52 controls - - - DNA PCR - - Healthy/Control controls PubMed: van der Zee - - - Belgium - - - - - 1 Johan den Dunnen
-/. 1i c.(-45+2_-45+394)insN[12] CGGGGC[5] r.(?) p.(=) Parent #1 - benign g.(27573313_27573705)insN[12] g.(27573315_27573707)insN[12] G4C2[5] - C9orf72_000035 - PubMed: van der Zee - - Germline - 0.17 controls - - - DNA PCR - - Healthy/Control controls PubMed: van der Zee - - - Belgium - - - - - 1 Johan den Dunnen
-/. 1i c.(-45+2_-45+394)insN[18] CGGGGC[6] r.(?) p.(=) Parent #1 - benign g.(27573313_27573705)insN[18] g.(27573315_27573707)insN[18] G4C2[6] - C9orf72_000036 - PubMed: van der Zee - - Germline - 0.05 controls - - - DNA PCR - - Healthy/Control controls PubMed: van der Zee - - - Belgium - - - - - 1 Johan den Dunnen
-/. 1i c.(-45+2_-45+394)insN[24] CGGGGC[7] r.(?) p.(=) Parent #1 - benign g.(27573313_27573705)insN[24] g.(27573315_27573707)insN[24] G4C2[7] - C9orf72_000037 - PubMed: van der Zee - - Germline - 0.02 controls - - - DNA PCR - - Healthy/Control controls PubMed: van der Zee - - - Belgium - - - - - 1 Johan den Dunnen
-/. 1i c.(-45+2_-45+394)insN[30] CGGGGC[8] r.(?) p.(=) Parent #1 - benign g.(27573313_27573705)insN[30] g.(27573315_27573707)insN[30] G4C2[8] - C9orf72_000038 - PubMed: van der Zee - - Germline - 0.12 controls - - - DNA PCR - - Healthy/Control controls PubMed: van der Zee - - - Belgium - - - - - 1 Johan den Dunnen
-/. 1i c.(-45+2_-45+394)insN[36] CGGGGC[9] r.(?) p.(=) Parent #1 - benign g.(27573313_27573705)insN[36] g.(27573315_27573707)insN[36] G4C2[9] - C9orf72_000039 - PubMed: van der Zee - - Germline - 0.02 controls - - - DNA PCR - - Healthy/Control controls PubMed: van der Zee - - - Belgium - - - - - 1 Johan den Dunnen
-/. 1i c.(-45+2_-45+394)insN[42] CGGGGC[10] r.(?) p.(=) Parent #1 - benign g.(27573313_27573705)insN[42] g.(27573315_27573707)insN[42] G4C2[10] - C9orf72_000040 - PubMed: van der Zee - - Germline - 0.03 controls - - - DNA PCR - - Healthy/Control controls PubMed: van der Zee - - - Belgium - - - - - 1 Johan den Dunnen
-/. 1i c.(-45+2_-45+394)insN[48] CGGGGC[11] r.(?) p.(=) Parent #1 - benign g.(27573313_27573705)insN[48] g.(27573315_27573707)insN[48] G4C2[11] - C9orf72_000041 - PubMed: van der Zee - - Germline - 0.02 controls - - - DNA PCR - - Healthy/Control controls PubMed: van der Zee - - - Belgium - - - - - 1 Johan den Dunnen
-/. 1i c.(-45+2_-45+394)insN[54] CGGGGC[12] r.(?) p.(=) Parent #1 - benign g.(27573313_27573705)insN[54] g.(27573315_27573707)insN[54] G4C2[12] - C9orf72_000042 - PubMed: van der Zee - - Germline - 0.02 controls - - - DNA PCR - - Healthy/Control controls PubMed: van der Zee - - - Belgium - - - - - 1 Johan den Dunnen
-/. 1i c.(-45+2_-45+394)insN[60] CGGGGC[13] r.(?) p.(=) Parent #1 - benign g.(27573313_27573705)insN[60] g.(27573315_27573707)insN[60] G4C2[13] - C9orf72_000043 - PubMed: van der Zee - - Germline - 0.01 controls - - - DNA PCR - - Healthy/Control controls PubMed: van der Zee - - - Belgium - - - - - 1 Johan den Dunnen
-/. 1i c.(-45+2_-45+394)insN[66] CGGGGC[14] r.(?) p.(=) Parent #1 - benign g.(27573313_27573705)insN[66] g.(27573315_27573707)insN[66] G4C2[14] - C9orf72_000044 - PubMed: van der Zee - - Germline - 0.01 controls - - - DNA PCR - - Healthy/Control controls PubMed: van der Zee - - - Belgium - - - - - 1 Johan den Dunnen
-/. 1i c.(-45+2_-45+394)insN[6] CGGGGC[4] r.(?) p.(=) Parent #1 - benign g.(27573313_27573705)insN[6] g.(27573315_27573707)insN[6] G4C2[4] - C9orf72_000034 - PubMed: van der Zee - - Germline - 0.03 controls - - - DNA PCR - - Healthy/Control controls PubMed: van der Zee - - - Belgium - - - - - 1 Johan den Dunnen
-/. 1i c.(-45+2_-45+394)insN[72] CGGGGC[15] r.(?) p.(=) Parent #1 - benign g.(27573313_27573705)insN[72] g.(27573315_27573707)insN[72] G4C2[15] - C9orf72_000045 - PubMed: van der Zee - - Germline - <0.01 controls - - - DNA PCR - - Healthy/Control controls PubMed: van der Zee - - - Belgium - - - - - 1 Johan den Dunnen
-/. 1i c.(-45+2_-45+394)insN[78] CGGGGC[16] r.(?) p.(=) Parent #1 - benign g.(27573313_27573705)insN[78] g.(27573315_27573707)insN[78] G4C2[16] - C9orf72_000046 - PubMed: van der Zee - - Germline - <0.01 controls - - - DNA PCR - - Healthy/Control controls PubMed: van der Zee - - - Belgium - - - - - 1 Johan den Dunnen
-/. - c.-45+184dup - r.(=) p.(=) Unknown - benign g.27573526dup g.27573528dup C9orf72(NM_001256054.1):c.-45+184dupG - C9orf72_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 1i c.-45+186_-45+190del - r.(?) p.(=) Parent #1 - benign g.27573517_27573521del - g.26747_26751delGTGGT - C9orf72_000007 deletion of 5 bp in the low complexity sequence, upstream of exon 1 PubMed: van der Zee - - Germline - 1/290 controls - - - DNA SEQ - - FTD - PubMed: van der Zee analysis 290 non-expansion carriers - - Belgium - - - - - 1 Marc Cruts
-/. 1i c.-45+186_-45+190del - r.(?) p.(=) Parent #1 - benign g.27573517_27573521del - g.26747_26751delGTGGT - C9orf72_000007 5bp nucleotide deletion in the low complexity sequence, upstream of exon 1 PubMed: van der Zee - - Germline - 1/57 expansion carrier patients - - - DNA SEQ - - FTD - PubMed: van der Zee analysis 57 expansion carriers - - - Europe - - - - 1 Marc Cruts
-/. 1i c.-45+186_-45+195del - r.(=) p.(=) Parent #2 - benign g.27573512_27573521del - g.26747_26756delGTGGTCGGGG - C9orf72_000011 deletion of 10 bp in the low complexity sequence, upstream of exon 1 PubMed: van der Zee - - Germline - 7/27 expansion carrier patients - - - DNA SEQ - - FTD - PubMed: van der Zee analysis 27 expansion carriers - - Belgium - - - - - 7 Marc Cruts
-/. 1i c.-45+186_-45+195del - r.(?) p.(=) Parent #1 - benign g.27563493_27563521del - g.26747_26756delGTGGTCGGGG - C9orf72_000006 deletion of 10 bp in the low complexity sequence, upstream of exon 1 PubMed: van der Zee - - Germline - 6/57 expansion carrier patients - - - DNA SEQ - - FTD - PubMed: van der Zee analysis 57 expansion carriers - - - Europe - - - - 6 Marc Cruts
-/. 1i c.-45+186_-45+195del - r.(?) p.(=) Parent #1 - benign g.27573512_27573521del - g.26747_26756delGTGGTCGGGG - C9orf72_000011 deletion of 1o bp in the low complexity sequence, upstream of exon 1 PubMed: van der Zee - - Germline - 2/27 expansion carrier patients - - - DNA SEQ - - FTDALS - PubMed: van der Zee analysis 27 expansion carriers - - Belgium - - - - - 2 Marc Cruts
-/. 1i c.-45+186_-45+195del - r.(?) p.(=) Parent #1 - benign g.27573512_27573521del - g.26747_26756delGTGGTCGGGG - C9orf72_000011 - PubMed: van der Zee - - Germline - 1/57 expansion carrier patients - - - DNA SEQ - - FTDALS - PubMed: van der Zee analysis 57 expansion carriers - - - Europe - - - - 1 Johan den Dunnen
-/. 1i c.-45+186_-45+201del - r.(?) p.(=) Parent #1 - benign g.27573506_27573521del - g.26746_26761delCGTGGTCGGGGCGGGC - C9orf72_000008 deletion of 16 bp in the low complexity sequence, upstream of exon 1 PubMed: van der Zee - - Germline - 1/752 controls - - - DNA SEQ - - Healthy/Control - PubMed: van der Zee analysis 752 controls - - Belgium - - - - - 1 Marc Cruts
-/. 1i c.-45+186_-45+213del - r.(=) p.(=) Parent #1 - benign g.27573494_27573521del - g.26746_26773delCGTGGTCGGGGCGGGCCCGGGGGCGGGC - C9orf72_000010 - PubMed: van der Zee - - Germline - 1/57 expansion carrier patients - - - DNA SEQ - - FTDALS - PubMed: van der Zee analysis 57 expansion carriers - - - Europe - - - - 1 Johan den Dunnen
-/. 1i c.-45+187_-45+198del - r.(?) p.(=) Parent #1 - benign g.27573509_27573520del - g.26747_26768delGTGGTCGGGGCGGGCCCGGGGG - C9orf72_000005 deletion of 22 bp in the low complexity sequence, upstream of exon 1 PubMed: van der Zee - - Germline - 1/57 expansion carrier patients - - - DNA SEQ - - FTD - PubMed: van der Zee analysis 57 expansion carriers - - - Europe - - - - 1 Marc Cruts
-/? 1i c.-45+187_-45+209del - r.(?) p.(=) Parent #1 - benign g.27573498_27573520del - g.26742_26764delGGGGCGTGGTCGGGGCGGGCCCG - C9orf72_000012 deletion of 23 bp in the low complexity sequence, upstream of exon 1 PubMed: van der Zee - - Germline - 1/27 expansion carrier patients - - - DNA SEQ - - FTDALS - PubMed: van der Zee analysis 27 expansion carriers - - Belgium - - - - - 1 Marc Cruts
-/. 1i c.-45+196_-45+206del - r.(?) p.(=) Parent #1 - benign g.27573506_27573516del - g.26752_26762delCGGGGCGGGCC - C9orf72_000004 deletion of 11 bp in the low complexity sequence, upstream of exon 1 PubMed: van der Zee - - Germline - 3/290 non-expansion patients - - - DNA SEQ - - FTD - PubMed: van der Zee analysis 290 non-expansion carriers - - Belgium - - - - - 3 Marc Cruts
-/. 1i c.-45+196_-45+206del - r.(?) p.(=) Parent #1 - benign g.27573506_27573516del - g.26752_26762delCGGGGCGGGCC - C9orf72_000004 deletion of 11 bp in the low complexity sequence, upstream of exon 1 PubMed: van der Zee - - Germline - 3/752 controls - - - DNA SEQ - - Healthy/Control - PubMed: van der Zee analysis 752 controls - - Belgium - - - - - 3 Marc Cruts
-/. 1i c.-45+196_-45+206del - r.(?) p.(=) Parent #1 - benign g.27573506_27573516del - g.26752_26762delCGGGGCGGGCC - C9orf72_000004 - PubMed: van der Zee - - Germline - 1/57 expansion carrier patients - - - DNA SEQ - - FTDALS - PubMed: van der Zee analysis 57 expansion carriers - - - Europe - - - - 1 Johan den Dunnen
-/. 1i c.-45+200_-45+222del - r.(?) p.(=) Parent #1 - benign g.27573485_27573507del - g.26752_26774delCGGGGCGGGCCCGGGGGCGGGCC - C9orf72_000003 deletion of 23 bp in the low complexity sequence, upstream of exon 1 PubMed: van der Zee - - Germline - 1/290 non-expansion patients - - - DNA SEQ - - FTDALS - PubMed: van der Zee - - - Belgium - - - - - 1 Marc Cruts
-/. 1i c.-45+207_-45+218del - r.(?) p.(=) Parent #1 - benign g.27573489_27573500del - g.26753_26764delGGGGCGGGCCCG - C9orf72_000030 - PubMed: van der Zee - - Germline - 1/57 expansion carrier patients - - - DNA SEQ - - FTD - PubMed: van der Zee analysis 57 expansion carriers - - - Europe - - - - 1 Johan den Dunnen
-/. 1i c.-45+207_-45+218dup - r.(?) p.(=) Parent #1 - benign g.27573489_27573500dup - g.26775_26776insGGGGCGGGCCCG - C9orf72_000009 - PubMed: van der Zee - - Germline - 1/57 expansion carrier patients - - - DNA SEQ - - FTD - PubMed: van der Zee analysis 57 expansion carriers - - - Europe - - - - 1 Johan den Dunnen
-/. 1i c.-45+218dup - r.(?) p.(=) Parent #1 - benign g.27573489dup - g.26775_26776insG - C9orf72_000031 - PubMed: van der Zee - - Germline - 1/57 expansion carrier patients - - - DNA SEQ - - FTD - PubMed: van der Zee analysis 57 expansion carriers - - - Europe - - - - 1 Johan den Dunnen
+/. 1i c.-45+168_-45+185CGGGGC[(250_?)] - r.(=) p.(=) Parent #1 - pathogenic g.27573522_27573539GCCCCG[(250_?)] - GGGGCC expansion - C9orf72_000000 - PubMed: Renton 2011, Journal: Renton 2011, OMIM:var0001 - - Germline yes - - - - DNA FISH, PCR, SEQ - - FTDALS - PubMed: Renton 2011, Journal: Renton 2011 4-generation family, 9 affecteds - no United Kingdom (Great Britain) Welsh - - - - 9 Johan den Dunnen
+/. 1i c.-45+168_-45+185CGGGGC[(250_?)] - r.(=) p.(=) Parent #1 - pathogenic g.27573522_27573539GCCCCG[(250_?)] - GGGGCC expansion - C9orf72_000000 - PubMed: Renton 2011, Journal: Renton 2011, OMIM:var0001 - - Germline yes - - - - DNA FISH, PCRdig - - FTDALS - PubMed: Renton 2011, Journal: Renton 2011 3-generation family, 8 affecteds - no United States - - - - - 8 Johan den Dunnen
?/? 1i c.-45+168_-45+185CGGGGC[(2_23)] - r.? p.? Unknown - VUS g.27573522_27573539GCCCCG[(2_23)] - - - C9orf72_000001 - - - - Germline - - - - - DNA PCR - - FTDALS - - Patient suffers from Amyotrophic Lateral Sclerosis (ALS) ? no Spain Spanish - - - - 1 Jordi Clarimon
+/. 1i c.-45+168_-45+185CGGGGC[(30_?)] - r.(=) p.(=) Parent #1 - pathogenic g.27573522_27573539GCCCCG[(30_?)] - GGGGCC expansion - C9orf72_000000 - PubMed: Renton 2011, Journal: Renton 2011, OMIM:var0001 - - Germline yes - - - - DNA PCR - - FTD - PubMed: Renton 2011, Journal: Renton 2011 6-generation family, 10 affecteds - no Netherlands - - - - - 10 Johan den Dunnen
+/. 1i c.-45+168_-45+185CGGGGC[(30_?)] - r.(=) p.(=) Parent #1 - pathogenic g.27573522_27573539GCCCCG[(30_?)] - GGGGCC expansion - C9orf72_000000 - PubMed: Renton 2011, Journal: Renton 2011, OMIM:var0001 - - Germline yes - - - - DNA PCR - - ALS - PubMed: Renton 2011, Journal: Renton 2011 4-generation family, 8 affecteds - no Italy - - - - - 8 Johan den Dunnen
+/. 1i c.-45+168_-45+185CGGGGC[(30_?)] - r.(=) p.(=) Parent #1 - pathogenic g.27573522_27573539GCCCCG[(30_?)] - GGGGCC expansion - C9orf72_000000 - PubMed: Renton 2011, Journal: Renton 2011, OMIM:var0001 - - Germline yes - - - - DNA PCR - - ALS - PubMed: Renton 2011, Journal: Renton 2011 3-generation family, 5 affecteds - no United States - - - - - 5 Johan den Dunnen
+/. 1i c.-45+168_-45+185CGGGGC[(30_?)] - r.(=) p.(=) Paternal (confirmed) - pathogenic g.27573522_27573539GCCCCG[(30_?)] - C9orf72 expansion - C9orf72_000000 - PubMed: Chio 2012, Journal: Chio 2012 - - Germline yes - - - - DNA PCR, SEQ - - FTDALS - PubMed: Chio 2012, Journal: Chio 2012 3-generation family, 4 affecteds (F, 3M) M no Italy Sardinia 46y - - - 4 Johan den Dunnen
+/. 1i c.-45+168_-45+185CGGGGC[(30_?)] - r.(=) p.(=) Unknown - pathogenic g.27573522_27573539GCCCCG[(30_?)] - C9orf72 expansion - C9orf72_000000 - PubMed: Chio 2012, Journal: Chio 2012 - - Unknown yes - - - - DNA PCR, SEQ - - FTDALS - PubMed: Chio 2012, Journal: Chio 2012 father of patient M no Italy Sardinia 70y - - - 1 Johan den Dunnen
+/. 1i c.-45+168_-45+185CGGGGC[(30_?)] - r.(=) p.(=) Parent #1 - pathogenic g.27573522_27573539GCCCCG[(30_?)] - C9orf72 expansion - C9orf72_000000 - PubMed: Chio 2012, Journal: Chio 2012 - - Unknown - - - - - DNA PCR, SEQ - - ALS - PubMed: Chio 2012, Journal: Chio 2012 2-generation family, 1 affected (other family members not tested) M no Italy Sardinia >39y - - - 1 Johan den Dunnen
-/. 1i c.-45+168_-45+185CGGGGC[(3_20)] - r.(?) p.(=) Parent #1 - benign g.27573522_27573539GCCCCG[(3_20)] - - - C9orf72_000000 - PubMed: Renton 2011, Journal: Renton 2011 - - Germline no - - - - DNA PCR - - Healthy/Control - PubMed: Renton 2011, Journal: Renton 2011 controls from Finland (478), USA (262), German (64), Italian (83) - - - - - - - - 887 Johan den Dunnen
?/. - c.20C>T - r.(?) p.(Pro7Leu) Unknown - VUS g.27567099G>A - C9orf72(NM_001256054.1):c.20C>T (p.P7L) - C9orf72_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.24A>G - r.(?) p.(Pro8=) Unknown - likely benign g.27567095T>C g.27567097T>C C9orf72(NM_001256054.3):c.24A>G (p.P8=) - C9orf72_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.146C>G - r.(?) p.(Thr49Arg) Unknown - likely benign g.27566973G>C g.27566975G>C C9orf72(NM_001256054.1):c.146C>G (p.T49R), C9orf72(NM_001256054.3):c.146C>G (p.T49R) - C9orf72_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.146C>G - r.(?) p.(Thr49Arg) Unknown - VUS g.27566973G>C - C9orf72(NM_001256054.1):c.146C>G (p.T49R), C9orf72(NM_001256054.3):c.146C>G (p.T49R) - C9orf72_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.270G>A - r.(?) p.(Lys90=) Unknown - likely benign g.27566849C>T - C9orf72(NM_001256054.1):c.270G>A (p.K90=) - C9orf72_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.288A>G - r.(?) p.(Ser96=) Unknown - likely benign g.27566831T>C g.27566833T>C C9orf72(NM_001256054.1):c.288A>G (p.S96=), C9orf72(NM_001256054.3):c.288A>G (p.S96=) - C9orf72_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.288A>G - r.(?) p.(Ser96=) Unknown - likely benign g.27566831T>C g.27566833T>C C9orf72(NM_001256054.1):c.288A>G (p.S96=), C9orf72(NM_001256054.3):c.288A>G (p.S96=) - C9orf72_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.319C>T - r.(?) p.(Arg107Cys) Unknown - VUS g.27566800G>A - C9orf72(NM_001256054.1):c.319C>T (p.R107C) - C9orf72_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.454G>T - r.(?) p.(Glu152*) Unknown - VUS g.27565579C>A - C9orf72(NM_018325.5):c.454G>T (p.(Glu152*)) - C9orf72_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.477A>G - r.(?) p.(Leu159=) Unknown - likely benign g.27565556T>C - C9orf72(NM_001256054.1):c.477A>G (p.L159=) - C9orf72_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.607G>C - r.(?) p.(Asp203His) Parent #1 - VUS g.27561641C>G g.27561643C>G - - C9orf72_000002 - PubMed: Aten 2013 - - Germline no - - - - DNA SEQ-NG-I - - AAS;MRX16 - PubMed: Aten 2013 3-generation family, affected grandfather and 2 grandsons, unaffected heterozygous carrier daugther M no Netherlands - - - - - 3 Johan den Dunnen
-/. - c.620A>G - r.(?) p.(Asn207Ser) Unknown - benign g.27561628T>C g.27561630T>C C9orf72(NM_001256054.3):c.620A>G (p.N207S) - C9orf72_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.620A>G - r.(?) p.(Asn207Ser) Unknown - benign g.27561628T>C g.27561630T>C C9orf72(NM_001256054.3):c.620A>G (p.N207S) - C9orf72_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.655T>C - r.(?) p.(Phe219Leu) Unknown - VUS g.27561593A>G - C9orf72(NM_001256054.1):c.655T>C (p.F219L) - C9orf72_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.852A>G - r.(?) p.(Leu284=) Unknown - likely benign g.27558492T>C - C9orf72(NM_001256054.1):c.852A>G (p.L284=) - C9orf72_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.870C>T - r.(?) p.(Ser290=) Unknown - benign g.27556780G>A g.27556782G>A C9orf72(NM_001256054.3):c.870C>T (p.S290=) - C9orf72_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.870C>T - r.(?) p.(Ser290=) Unknown - benign g.27556780G>A g.27556782G>A C9orf72(NM_001256054.3):c.870C>T (p.S290=) - C9orf72_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1259+19C>T - r.(=) p.(=) Unknown - likely benign g.27548536G>A g.27548538G>A C9orf72(NM_001256054.3):c.1259+19C>T - C9orf72_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1260-23_1260-14del - r.(=) p.(=) Unknown - likely benign g.27548450_27548459del g.27548452_27548461del C9orf72(NM_001256054.3):c.1260-23_1260-14delTTTTTTTTTT - C9orf72_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1260-15_1260-14dup - r.(=) p.(=) Unknown - likely benign g.27548458_27548459dup g.27548460_27548461dup C9orf72(NM_001256054.2):c.1260-16_1260-15dupTT - C9orf72_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1260-14del - r.(=) p.(=) Unknown - likely benign g.27548459del g.27548461del C9orf72(NM_001256054.2):c.1260-14delT - C9orf72_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1260-8A>T - r.(=) p.(=) Unknown - benign g.27548428T>A g.27548430T>A C9orf72(NM_001256054.2):c.1260-8A>T - C9orf72_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1292G>A - r.(?) p.(Arg431Gln) Unknown - VUS g.27548388C>T g.27548390C>T C9orf72(NM_001256054.3):c.1292G>A (p.R431Q) - C9orf72_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1329C>T - r.(?) p.(Gly443=) Unknown - likely benign g.27548351G>A g.27548353G>A C9orf72(NM_001256054.3):c.1329C>T (p.G443=) - C9orf72_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1346T>C - r.(?) p.(Met449Thr) Unknown - VUS g.27548334A>G g.27548336A>G C9orf72(NM_001256054.1):c.1346T>C (p.M449T) - C9orf72_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1386T>C - r.(?) p.(Phe462=) Unknown - likely benign g.27548294A>G g.27548296A>G C9orf72(NM_001256054.3):c.1386T>C (p.F462=) - C9orf72_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1404C>T - r.(?) p.(Phe468=) Unknown - likely benign g.27548276G>A g.27548278G>A C9orf72(NM_001256054.1):c.1404C>T (p.F468=), C9orf72(NM_001256054.3):c.1404C>T (p.F468=) - C9orf72_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1404C>T - r.(?) p.(Phe468=) Unknown - likely benign g.27548276G>A g.27548278G>A C9orf72(NM_001256054.1):c.1404C>T (p.F468=), C9orf72(NM_001256054.3):c.1404C>T (p.F468=) - C9orf72_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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