Full data view for gene FIG4

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_014845.5 transcript reference sequence.

153 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_1i c.(?_-1)_(66+1_67-1)del r.0? p.0? Both (homozygous) - pathogenic g.(109724312_109740389)_(110012705_110036280)del - g.109734377_110024284del - ZBTB24_000023 - PubMed: van den Boogaard 2017 - - Germline yes - - 0 - DNA arrayCNV - - ICF-2 Rf1875-2.2 PubMed: van den Boogaard 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - 0 - IVIG 1 Marlinde L. van den Boogaard
-/. - c.27C>T r.(?) p.(Ile9=) Unknown - benign g.110012665C>T g.109691462C>T FIG4(NM_014845.5):c.27C>T (p.I9=) - FIG4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.27C>T r.(?) p.(Ile9=) Unknown - benign g.110012665C>T g.109691462C>T FIG4(NM_014845.5):c.27C>T (p.I9=) - FIG4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.33G>C r.(?) p.(Ser11=) Unknown - likely benign g.110012671G>C g.109691468G>C FIG4(NM_014845.5):c.33G>C (p.S11=) - FIG4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.42G>A r.(?) p.(Lys14=) Unknown - likely benign g.110012680G>A g.109691477G>A FIG4(NM_014845.5):c.42G>A (p.K14=) - FIG4_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.50T>C r.(?) p.(Leu17Pro) Unknown - pathogenic g.110012688T>C g.109691485T>C - - FIG4_000022 - PubMed: Nicholson 2011 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Nicholson 2011 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.66+10C>T r.(=) p.(=) Unknown - benign g.110012714C>T g.109691511C>T FIG4(NM_014845.5):c.66+10C>T - FIG4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.66+10C>T r.(=) p.(=) Unknown - benign g.110012714C>T g.109691511C>T FIG4(NM_014845.5):c.66+10C>T - FIG4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.66+10C>T r.(=) p.(=) Unknown - likely benign g.110012714C>T g.109691511C>T FIG4(NM_014845.5):c.66+10C>T - FIG4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.67-7T>C r.(=) p.(=) Unknown - benign g.110036274T>C g.109715071T>C FIG4(NM_014845.5):c.67-7T>C - FIG4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.67-7T>C r.(=) p.(=) Unknown - benign g.110036274T>C g.109715071T>C FIG4(NM_014845.5):c.67-7T>C - FIG4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.67-7T>C r.(=) p.(=) Unknown - benign g.110036274T>C g.109715071T>C FIG4(NM_014845.5):c.67-7T>C - FIG4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.67-7T>C r.(=) p.(=) Unknown - benign g.110036274T>C g.109715071T>C FIG4(NM_014845.5):c.67-7T>C - FIG4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.102G>A r.(?) p.(Thr34=) Unknown - likely benign g.110036316G>A g.109715113G>A FIG4(NM_014845.5):c.102G>A (p.T34=) - FIG4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.112G>A r.(?) p.(Val38Ile) Unknown - VUS g.110036326G>A g.109715123G>A FIG4(NM_014845.5):c.112G>A (p.V38I) - FIG4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.122T>C r.(?) p.(Ile41Thr) Unknown - pathogenic g.110036336T>C g.109715133T>C - - FIG4_000009 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - (Germany) - - 0 - - 1 IMGAG
+/. - c.122T>C r.(?) p.(Ile41Thr) Unknown - pathogenic g.110036336T>C g.109715133T>C FIG4(NM_014845.5):c.122T>C (p.I41T) - FIG4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.122T>C r.(?) p.(Ile41Thr) Unknown - pathogenic g.110036336T>C g.109715133T>C FIG4(NM_014845.5):c.122T>C (p.I41T) - FIG4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.122T>C r.(?) p.(Ile41Thr) Unknown - pathogenic g.110036336T>C g.109715133T>C - - FIG4_000009 - PubMed: Chow 2007 - rs121908287 Germline - - - 0 - DNA SEQ - - CMT - PubMed: Chow 2007 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.122T>C r.(?) p.(Ile41Thr) Parent #1 - pathogenic g.110036336T>C g.109715133T>C - - FIG4_000009 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat63 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
+/. - c.122T>C r.(?) p.(Ile41Thr) Parent #1 - pathogenic g.110036336T>C g.109715133T>C - - FIG4_000009 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat64 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
+/. - c.122T>C r.(?) p.(Ile41Thr) Unknown - pathogenic g.110036336T>C g.109715133T>C FIG4(NM_014845.5):c.122T>C (p.I41T) - FIG4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.122T>C r.(?) p.(Ile41Thr) Unknown - pathogenic (recessive) g.110036336T>C g.109715133T>C - - FIG4_000009 - PubMed: Antoniadi 2015 - rs121908287 Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT Pat-FIG4-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.122T>C r.(?) p.(Ile41Thr) Unknown - pathogenic (recessive) g.110036336T>C g.109715133T>C - - FIG4_000009 - PubMed: Antoniadi 2015 - rs121908287 Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT Pat-FIG4-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.122T>C r.(?) p.(Ile41Thr) Unknown - pathogenic (recessive) g.110036336T>C g.109715133T>C - - FIG4_000009 - PubMed: Antoniadi 2015 - rs121908287 Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT-2 Pat-FIG4-c PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.122T>C r.(?) p.(Ile41Thr) Unknown - pathogenic (recessive) g.110036336T>C g.109715133T>C - - FIG4_000009 - PubMed: Antoniadi 2015 - rs121908287 Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT-2 Pat-FIG4-d PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 2 c.143A>G r.(?) p.(Asp48Gly) Unknown - pathogenic g.110036357A>G g.109715154A>G - - FIG4_000012 - PubMed: Chow 2009 - - Germline - - - 0 - DNA SEQ - - ALS - PubMed: Chow 2009 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.157G>T r.(?) p.(Asp53Tyr) Unknown - pathogenic g.110036371G>T g.109715168G>T - - FIG4_000013 - PubMed: Chow 2009 - - Germline - - - 0 - DNA SEQ - - ALS - PubMed: Chow 2009 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.165+100A>T r.(=) p.(=) Parent #1 - benign g.110036479A>T g.109715276A>T - - FIG4_000040 - - - rs6924436 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.173A>G r.(?) p.(Tyr58Cys) Parent #1 - likely benign g.110037655A>G g.109716452A>G - - FIG4_000094 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145337669 Germline - 4/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
?/. - c.173A>G r.(?) p.(Tyr58Cys) Unknown - VUS g.110037655A>G g.109716452A>G FIG4(NM_014845.5):c.173A>G (p.Y58C) - FIG4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.281G>A r.(?) p.(Gly94Asp) Unknown - likely pathogenic (recessive) g.110037763G>A g.109716560G>A - - FIG4_000097 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 4 c.294del r.(?) p.(Phe98Leufs*5) Unknown - pathogenic g.110048316del g.109727113del c.294delT - FIG4_000021 - PubMed: Chow 2007 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Chow 2007 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.446+9G>A r.(=) p.(=) Unknown - benign g.110048477G>A g.109727274G>A FIG4(NM_014845.5):c.446+9G>A - FIG4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.446+9G>A r.(=) p.(=) Unknown - likely benign g.110048477G>A g.109727274G>A FIG4(NM_014845.5):c.446+9G>A - FIG4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.446+9G>A r.(=) p.(=) Unknown - likely benign g.110048477G>A g.109727274G>A FIG4(NM_014845.5):c.446+9G>A - FIG4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447-17dup r.(=) p.(=) Unknown - likely benign g.110053823dup g.109732620dup FIG4(NM_014845.5):c.447-17dupT - FIG4_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.447-17dup r.(=) p.(=) Unknown - benign g.110053823dup g.109732620dup FIG4(NM_014845.5):c.447-17dupT - FIG4_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.447-16G>T r.(=) p.(=) Unknown - benign g.110053824G>T g.109732621G>T FIG4(NM_014845.5):c.447-16G>T - FIG4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.447-16G>T r.(=) p.(=) Unknown - likely benign g.110053824G>T g.109732621G>T FIG4(NM_014845.5):c.447-16G>T - FIG4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.447-4_447-3dup r.spl? p.? Unknown - benign g.110053836_110053837dup g.109732633_109732634dup FIG4(NM_014845.5):c.447-5_447-4dupTT - FIG4_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447-4_447-3dup r.spl? p.? Unknown - likely benign g.110053836_110053837dup g.109732633_109732634dup FIG4(NM_014845.5):c.447-5_447-4dupTT - FIG4_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447-3del r.spl? p.? Unknown - likely benign g.110053837del g.109732634del FIG4(NM_014845.5):c.447-3delT - FIG4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.447-3dup r.spl? p.? Parent #1 - benign g.110053837dup g.109732634dup - - FIG4_000041 - - - rs71764461 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.447-3dup r.spl? p.? Unknown - benign g.110053837dup g.109732634dup FIG4(NM_014845.5):c.447-3_447-2insT, FIG4(NM_014845.5):c.447-3dupT - FIG4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.447-3dup r.spl? p.? Unknown - benign g.110053837dup g.109732634dup FIG4(NM_014845.5):c.447-3_447-2insT, FIG4(NM_014845.5):c.447-3dupT - FIG4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.447-3dup r.spl? p.? Unknown - benign g.110053837dup g.109732634dup FIG4(NM_014845.5):c.447-3_447-2insT, FIG4(NM_014845.5):c.447-3dupT - FIG4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.447-3dup r.spl? p.? Unknown - benign g.110053837dup g.109732634dup FIG4(NM_014845.5):c.447-3_447-2insT, FIG4(NM_014845.5):c.447-3dupT - FIG4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.447-3dup r.spl? p.? Unknown - benign g.110053837dup - FIG4(NM_014845.5):c.447-3_447-2insT, FIG4(NM_014845.5):c.447-3dupT - FIG4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.547C>T r.(?) p.(Arg183*) Unknown - pathogenic g.110056402C>T g.109735199C>T - - FIG4_000023 - PubMed: Chow 2007 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Chow 2007 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.547C>T r.(?) p.(Arg183*) Unknown - pathogenic g.110056402C>T g.109735199C>T - - FIG4_000023 - - - rs121908288 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - - - - 0 - - 1 Andreas Laner
-?/. - c.548G>A r.(?) p.(Arg183Gln) Unknown - likely benign g.110056403G>A g.109735200G>A FIG4(NM_014845.5):c.548G>A (p.(Arg183Gln)) - FIG4_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.592C>T r.(?) p.(Gln198Ter) Unknown - pathogenic g.110056447C>T g.109735244C>T - - FIG4_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.647-18C>A r.(=) p.(=) Parent #1 - benign g.110059510C>A g.109738307C>A - - FIG4_000043 - - - rs2273752 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.647-18C>A r.(=) p.(=) Unknown - benign g.110059510C>A g.109738307C>A FIG4(NM_014845.5):c.647-18C>A - FIG4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.647-18C>A r.(=) p.(=) Unknown - benign g.110059510C>A g.109738307C>A FIG4(NM_014845.5):c.647-18C>A - FIG4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.647-18C>A r.(=) p.(=) Unknown - benign g.110059510C>A g.109738307C>A FIG4(NM_014845.5):c.647-18C>A - FIG4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.647-18C>A r.(=) p.(=) Unknown - benign g.110059510C>A g.109738307C>A FIG4(NM_014845.5):c.647-18C>A - FIG4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.647-18C>A r.(=) p.(=) Unknown - benign g.110059510C>A g.109738307C>A FIG4(NM_014845.5):c.647-18C>A - FIG4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.759del r.(?) p.(Phe254SerfsTer8) Unknown - VUS g.110059640del g.109738437del FIG4(NM_014845.5):c.759delG (p.F254Sfs*8) - FIG4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.759del r.(?) p.(Phe254Serfs*8) Unknown - pathogenic g.110059640del g.109738437del c.759delG - FIG4_000024 - PubMed: Chow 2007 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Chow 2007 - - - - - - 0 - - 1 Johan den Dunnen
+/. 6 c.831_838del r.(?) p.(Lys278Trpfs*6) Unknown - pathogenic g.110062702_110062709del g.109741499_109741506del c.831_838delTAAATTTG - FIG4_000025 - PubMed: Nicholson 2011 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Nicholson 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.831_838del r.(?) p.(Lys278Trpfs*6) Unknown - pathogenic (recessive) g.110062702_110062709del g.109741499_109741506del c.831_838delTAAATTTG - FIG4_000025 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT-2 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-?/. - c.834A>T r.(?) p.(Lys278Asn) Unknown - likely benign g.110062705A>T g.109741502A>T FIG4(NM_014845.5):c.834A>T (p.K278N, p.(Lys278Asn)) - FIG4_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.834A>T r.(?) p.(Lys278Asn) Unknown - likely benign g.110062705A>T - FIG4(NM_014845.5):c.834A>T (p.K278N, p.(Lys278Asn)) - FIG4_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.837dup r.(?) p.(Ala280Cysfs*7) Unknown - likely pathogenic g.110062708dup g.109741505dup - - FIG4_000038 - - - - Germline - - - 0 - DNA SEQ - - CMT-4J - - - - - Germany - - 0 - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+?/. - c.863G>T r.(?) p.(Gly288Val) Parent #2 ACMG likely pathogenic g.110062734G>T g.109741531G>T - - FIG4_000073 ACMG pm1, pm2, pp2, pp3 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat64 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
?/. - c.877-54_877-50del r.(=) p.(=) Parent #1 - VUS g.110064259_110064263del g.109743056_109743060del - - FIG4_000044 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/. 7 c.904G>A r.(?) p.(Glu302Lys) Unknown - pathogenic g.110064340G>A g.109743137G>A - - FIG4_000026 - PubMed: Nicholson 2011 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Nicholson 2011 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.919G>A r.(?) p.(Asp307Asn) Unknown - VUS g.110064355G>A g.109743152G>A FIG4(NM_014845.5):c.919G>A (p.D307N) - FIG4_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1040-4T>C r.spl? p.? Unknown - likely benign g.110064874T>C g.109743671T>C FIG4(NM_014845.5):c.1040-4T>C - FIG4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1043_1050del r.(?) p.(Asp348Glyfs*12) Unknown - pathogenic g.110064881_110064888del g.109743678_109743685del c.1043_1050delATCAGGCA - FIG4_000004 - PubMed: Chow 2007 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Chow 2007 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.1090A>T r.(?) p.(Met364Leu) Unknown - benign g.110064928A>T g.109743725A>T FIG4(NM_014845.5):c.1090A>T (p.M364L) - FIG4_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1090A>T r.(?) p.(Met364Leu) Unknown - likely benign g.110064928A>T g.109743725A>T FIG4(NM_014845.5):c.1090A>T (p.M364L) - FIG4_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1090A>T r.(?) p.(Met364Leu) Unknown - benign g.110064928A>T g.109743725A>T FIG4(NM_014845.5):c.1090A>T (p.M364L) - FIG4_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1090A>T r.(?) p.(Met364Leu) Unknown - benign g.110064928A>T g.109743725A>T FIG4(NM_014845.5):c.1090A>T (p.M364L) - FIG4_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1138-22A>G r.(=) p.(=) Unknown - benign g.110081431A>G g.109760228A>G FIG4(NM_014845.5):c.1138-22A>G - FIG4_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 9 c.1141C>T r.(?) p.(Arg381*) Unknown - pathogenic g.110081456C>T g.109760253C>T - - FIG4_000005 - PubMed: Nicholson 2011 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Nicholson 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.1141C>T r.(?) p.(Arg381*) Parent #2 - pathogenic g.110081456C>T g.109760253C>T - - FIG4_000005 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat63 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
+/. 9 c.1147_1148delinsT r.(?) p.(Lys383*) Unknown - pathogenic g.110081462_110081463delinsT g.109760259_109760260delinsT c.1147_1148delAAinsT - FIG4_000006 - PubMed: Nicholson 2011 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Nicholson 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. 9 c.1162A>G r.(?) p.(Arg388Gly) Unknown - pathogenic g.110081477A>G g.109760274A>G - - FIG4_000007 - PubMed: Chow 2009 - - Germline - - - 0 - DNA SEQ - - ALS - PubMed: Chow 2009 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.1207C>A r.(?) p.(Gln403Lys) Unknown - VUS g.110081522C>A g.109760319C>A FIG4(NM_014845.5):c.1207C>A (p.Q403K) - FIG4_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 10 c.1207C>T r.(?) p.(Gln403*) Unknown - pathogenic g.110081522C>T g.109760319C>T - - FIG4_000008 - PubMed: Chow 2009 - - Germline - - - 0 - DNA SEQ - - ALS - PubMed: Chow 2009 - - - - - - 0 - - 1 Johan den Dunnen
+/. 10 c.1231A>G r.(?) p.(Ile411Val) Unknown - pathogenic g.110081546A>G g.109760343A>G - - FIG4_000010 - PubMed: Chow 2009 - - Germline - - - 0 - DNA SEQ - - - - PubMed: Chow 2009 - - - - - - 0 - - 1 Johan den Dunnen
+/. 11 c.1373dup r.(?) p.(Leu458Phefs*5) Unknown - pathogenic g.110083395dup g.109762192dup c.1373dupT - FIG4_000011 - PubMed: Nicholson 2011 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Nicholson 2011 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.1376G>A r.(?) p.(Arg459Gln) Unknown - VUS g.110083398G>A g.109762195G>A - - FIG4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1388+8T>A r.(=) p.(=) Unknown - VUS g.110083418T>A - FIG4(NM_014845.5):c.1388+8T>A - FIG4_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1434+9A>G r.(=) p.(=) Unknown - likely benign g.110085194A>G g.109763991A>G FIG4(NM_014845.5):c.1434+9A>G - FIG4_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1435-90_1435-79dup r.(=) p.(=) Parent #1 - benign g.110086126_110086137dup g.109764923_109764934dup - - FIG4_000061 - - - rs71018366 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. - c.1507T>C r.(?) p.(Cys503Arg) Unknown - likely pathogenic g.110086288T>C g.109765085T>C FIG4(NM_014845.5):c.1507T>C (p.C503R) - FIG4_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1571C>G r.(?) p.(Thr524Arg) Unknown - VUS g.110086352C>G g.109765149C>G FIG4(NM_014845.5):c.1571C>G (p.T524R) - FIG4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1584-8T>A r.(=) p.(=) Unknown - likely benign g.110087924T>A g.109766721T>A FIG4(NM_014845.5):c.1584-8T>A - FIG4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1666dup r.(?) p.(Thr556Asnfs*21) Unknown - pathogenic g.110088014dup g.109766811dup c.1666dupA - FIG4_000014 - PubMed: Nicholson 2011 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Nicholson 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. 14 c.1675A>T r.(?) p.(Lys559*) Unknown - pathogenic g.110088023A>T g.109766820A>T - - FIG4_000015 - PubMed: Nicholson 2011 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Nicholson 2011 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.1808_1811dup r.(?) p.(Pro605Glufs*45) Paternal (confirmed) - VUS g.110098182_110098185dup g.109776979_109776982dup - - FIG4_000072 - Papuc et al., submitted - rs775015373 Germline - - - 0 - DNA SEQ-NG-I blood WES EE 72555 PubMed: Abela 2016 3-generation family, affected twin brothers, unaffected heterozygous carrier mother M no Italy - - 0 - - 2 Anaïs Begemann
-?/. - c.1863C>A r.(?) p.(Thr621=) Unknown - likely benign g.110098237C>A g.109777034C>A FIG4(NM_014845.5):c.1863C>A (p.T621=) - FIG4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1928T>A r.(?) p.(Leu643Ter) Unknown - VUS g.110106211T>A g.109785008T>A FIG4(NM_014845.5):c.1928T>A (p.L643*) - FIG4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 16 c.1940A>G r.(?) p.(Tyr647Cys) Unknown - pathogenic g.110106223A>G g.109785020A>G - - FIG4_000016 - PubMed: Chow 2009 - - Germline - - - 0 - DNA SEQ - - - - PubMed: Chow 2009 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.1948+3A>G r.spl? p.? Parent #1 - benign g.110106234A>G g.109785031A>G - - FIG4_000027 - - - rs10499054 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.1948+3A>G r.spl? p.? Unknown - benign g.110106234A>G g.109785031A>G FIG4(NM_014845.5):c.1948+3A>G - FIG4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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