Unique variants in the FIG4 gene

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.

88 entries on 1 page. Showing entries 1 - 88.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 1 _1_1i c.(?_-1)_(66+1_67-1)del r.0? p.0? - pathogenic g.(109724312_109740389)_(110012705_110036280)del - g.109734377_110024284del - ZBTB24_000023 - PubMed: van den Boogaard 2017 - - Germline yes - - - - Marlinde L. van den Boogaard
-/. 2 - c.27C>T r.(?) p.(Ile9=) - 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 - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.33G>C r.(?) p.(Ser11=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.42G>A r.(?) p.(Lys14=) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 1 c.50T>C r.(?) p.(Leu17Pro) - pathogenic g.110012688T>C g.109691485T>C - - FIG4_000022 - PubMed: Nicholson 2011 - - Germline - - - - - Johan den Dunnen
-/., -?/. 3 - c.66+10C>T r.(=) p.(=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 4 - c.67-7T>C r.(=) p.(=) - benign g.110036274T>C g.109715071T>C FIG4(NM_014845.5):c.67-7T>C - FIG4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.102G>A r.(?) p.(Thr34=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.112G>A r.(?) p.(Val38Ile) - 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 - - - - - VKGL-NL_Rotterdam
+/. 11 2 c.122T>C r.(?) p.(Ile41Thr) - pathogenic, pathogenic (recessive) g.110036336T>C g.109715133T>C FIG4(NM_014845.5):c.122T>C (p.I41T) - FIG4_000009 VKGL data sharing initiative Nederland PubMed: Antoniadi 2015, PubMed: Chow 2007, PubMed: Dohrn 2017, Journal: Dohrn 2017 - rs121908287 CLASSIFICATION record, Germline, Unknown - 1/612 cases - - - Johan den Dunnen, IMGAG, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 2 c.143A>G r.(?) p.(Asp48Gly) - pathogenic g.110036357A>G g.109715154A>G - - FIG4_000012 - PubMed: Chow 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.157G>T r.(?) p.(Asp53Tyr) - pathogenic g.110036371G>T g.109715168G>T - - FIG4_000013 - PubMed: Chow 2009 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.165+100A>T r.(=) p.(=) - benign g.110036479A>T g.109715276A>T - - FIG4_000040 - - - rs6924436 Germline - - - - - Andreas Laner
-?/., ?/. 2 - c.173A>G r.(?) p.(Tyr58Cys) - likely benign, VUS g.110037655A>G g.109716452A>G FIG4(NM_014845.5):c.173A>G (p.Y58C) - FIG4_000094 4 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs145337669 CLASSIFICATION record, Germline - 4/2793 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
+?/. 1 - c.281G>A r.(?) p.(Gly94Asp) - likely pathogenic (recessive) g.110037763G>A g.109716560G>A - - FIG4_000097 - PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.294del r.(?) p.(Phe98Leufs*5) - pathogenic g.110048316del g.109727113del c.294delT - FIG4_000021 - PubMed: Chow 2007 - - Germline - - - - - Johan den Dunnen
-/., -?/. 3 - c.446+9G>A r.(=) p.(=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-/., -?/. 2 - c.447-17dup r.(=) p.(=) - benign, likely benign g.110053823dup g.109732620dup FIG4(NM_014845.5):c.447-17dupT - FIG4_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/., -?/. 2 - c.447-16G>T r.(=) p.(=) - benign, 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 - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
-/., -?/. 2 - c.447-4_447-3dup r.spl? p.? - benign, 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 - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.447-3del r.spl? p.? - likely benign g.110053837del g.109732634del FIG4(NM_014845.5):c.447-3delT - FIG4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 6 - c.447-3dup r.spl? p.? - 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 - - rs71764461 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
+/. 2 4 c.547C>T r.(?) p.(Arg183*) - pathogenic g.110056402C>T g.109735199C>T - - FIG4_000023 - PubMed: Chow 2007 - rs121908288 Germline - - - - - Johan den Dunnen, Andreas Laner
-?/. 1 - c.548G>A r.(?) p.(Arg183Gln) - 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 - - - - - VKGL-NL_Leiden
+/. 1 - c.592C>T r.(?) p.(Gln198Ter) - pathogenic g.110056447C>T g.109735244C>T - - FIG4_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 6 - c.647-18C>A r.(=) p.(=) - benign g.110059510C>A g.109738307C>A FIG4(NM_014845.5):c.647-18C>A - FIG4_000043 VKGL data sharing initiative Nederland - - rs2273752 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
+/., ?/. 2 6 c.759del r.(?) p.(Phe254Serfs*8), p.(Phe254SerfsTer8) - pathogenic, VUS g.110059640del g.109738437del c.759delG, FIG4(NM_014845.5):c.759delG (p.F254Sfs*8) - FIG4_000024, FIG4_000052 VKGL data sharing initiative Nederland PubMed: Chow 2007 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 2 6 c.831_838del r.(?) p.(Lys278Trpfs*6) - pathogenic, pathogenic (recessive) g.110062702_110062709del g.109741499_109741506del c.831_838delTAAATTTG - FIG4_000025 - PubMed: Antoniadi 2015, PubMed: Nicholson 2011 - - Germline - - - - - Johan den Dunnen
-?/. 2 - c.834A>T r.(?) p.(Lys278Asn) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
+?/. 1 8 c.837dup r.(?) p.(Ala280Cysfs*7) - likely pathogenic g.110062708dup g.109741505dup - - FIG4_000038 - - - - Germline - - - - - Gemeinschaftspraxis für Humangenetik Dresden
+?/. 1 - c.863G>T r.(?) p.(Gly288Val) 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 - - - Johan den Dunnen
?/. 1 - c.877-54_877-50del r.(=) p.(=) - VUS g.110064259_110064263del g.109743056_109743060del - - FIG4_000044 - - - - Germline - - - - - Andreas Laner
+/. 1 7 c.904G>A r.(?) p.(Glu302Lys) - pathogenic g.110064340G>A g.109743137G>A - - FIG4_000026 - PubMed: Nicholson 2011 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.919G>A r.(?) p.(Asp307Asn) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1040-4T>C r.spl? p.? - 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 - - - - - VKGL-NL_Utrecht
+/. 1 8 c.1043_1050del r.(?) p.(Asp348Glyfs*12) - pathogenic g.110064881_110064888del g.109743678_109743685del c.1043_1050delATCAGGCA - FIG4_000004 - PubMed: Chow 2007 - - Germline - - - - - Johan den Dunnen
-/., -?/. 4 - c.1090A>T r.(?) p.(Met364Leu) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
-/. 1 - c.1138-22A>G r.(=) p.(=) - benign g.110081431A>G g.109760228A>G FIG4(NM_014845.5):c.1138-22A>G - FIG4_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 9 c.1141C>T r.(?) p.(Arg381*) - pathogenic g.110081456C>T g.109760253C>T - - FIG4_000005 - PubMed: Dohrn 2017, Journal: Dohrn 2017, PubMed: Nicholson 2011 - - Germline - 1/612 cases - - - Johan den Dunnen
+/. 1 9 c.1147_1148delinsT r.(?) p.(Lys383*) - pathogenic g.110081462_110081463delinsT g.109760259_109760260delinsT c.1147_1148delAAinsT - FIG4_000006 - PubMed: Nicholson 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 9 c.1162A>G r.(?) p.(Arg388Gly) - pathogenic g.110081477A>G g.109760274A>G - - FIG4_000007 - PubMed: Chow 2009 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1207C>A r.(?) p.(Gln403Lys) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 10 c.1207C>T r.(?) p.(Gln403*) - pathogenic g.110081522C>T g.109760319C>T - - FIG4_000008 - PubMed: Chow 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 10 c.1231A>G r.(?) p.(Ile411Val) - pathogenic g.110081546A>G g.109760343A>G - - FIG4_000010 - PubMed: Chow 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 11 c.1373dup r.(?) p.(Leu458Phefs*5) - pathogenic g.110083395dup g.109762192dup c.1373dupT - FIG4_000011 - PubMed: Nicholson 2011 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1376G>A r.(?) p.(Arg459Gln) - VUS g.110083398G>A g.109762195G>A - - FIG4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1388+8T>A r.(=) p.(=) - VUS g.110083418T>A - FIG4(NM_014845.5):c.1388+8T>A - FIG4_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1434+9A>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1435-90_1435-79dup r.(=) p.(=) - benign g.110086126_110086137dup g.109764923_109764934dup - - FIG4_000061 - - - rs71018366 Germline - - - - - Andreas Laner
+?/. 1 - c.1507T>C r.(?) p.(Cys503Arg) - 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 - - - - - VKGL-NL_Utrecht
?/. 1 - c.1571C>G r.(?) p.(Thr524Arg) - 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 - - - - - VKGL-NL_AMC
-?/. 1 - c.1584-8T>A r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
+/. 1 14 c.1666dup r.(?) p.(Thr556Asnfs*21) - pathogenic g.110088014dup g.109766811dup c.1666dupA - FIG4_000014 - PubMed: Nicholson 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 14 c.1675A>T r.(?) p.(Lys559*) - pathogenic g.110088023A>T g.109766820A>T - - FIG4_000015 - PubMed: Nicholson 2011 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.1808_1811dup r.(?) p.(Pro605Glufs*45) - VUS g.110098182_110098185dup g.109776979_109776982dup - - FIG4_000072 - Papuc et al., submitted - rs775015373 Germline - - - - - Anaïs Begemann
-?/. 1 - c.1863C>A r.(?) p.(Thr621=) - 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 - - - - - VKGL-NL_Groningen
?/. 1 - c.1928T>A r.(?) p.(Leu643Ter) - 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 - - - - - VKGL-NL_AMC
+/. 1 16 c.1940A>G r.(?) p.(Tyr647Cys) - pathogenic g.110106223A>G g.109785020A>G - - FIG4_000016 - PubMed: Chow 2009 - - Germline - - - - - Johan den Dunnen
-/. 6 - c.1948+3A>G r.spl? p.? - benign g.110106234A>G g.109785031A>G FIG4(NM_014845.5):c.1948+3A>G - FIG4_000027 VKGL data sharing initiative Nederland - - rs10499054 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
-/. 1 - c.1949-580A>G r.(=) p.(=) - benign g.110106925A>G g.109785722A>G FIG4(NM_014845.5):c.1949-580A>G - FIG4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1949-10T>G r.(=) p.(=) - likely pathogenic g.110107495T>G g.109786292T>G FIG4(NM_014845.5):c.1949-10T>G - FIG4_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 5 - c.1961T>C r.(?) p.(Val654Ala) - benign g.110107517T>C g.109786314T>C FIG4(NM_014845.5):c.1961T>C (p.V654A) - FIG4_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
+/. 1 16 c.1986dup r.(?) p.(Lys663Glufs*6) - pathogenic g.110107542dup g.109786339dup c.1986dupG - FIG4_000017 - PubMed: Nicholson 2011 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.2065dup r.(?) p.(Thr689Asnfs*12) - likely pathogenic (recessive) g.110107621dup g.109786418dup c.2065dupA - FIG4_000098 - PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen
-/., -?/. 3 - c.2097-10C>G r.(=) p.(=) - benign, likely benign g.110110787C>G g.109789584C>G FIG4(NM_014845.5):c.2097-10C>G - FIG4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 1 - c.2157_2158insA r.(?) p.(Glu720Argfs*13) - pathogenic g.110110857_110110858insA g.109789654_109789655insA - - FIG4_000071 - - - - Unknown - - - - - IMGAG
-/. 1 - c.2180+63G>T r.(=) p.(=) - benign g.110110943G>T g.109789740G>T - - FIG4_000002 - - - rs9384723 Germline - - - - - Andreas Laner
?/. 1 - c.2295T>A r.(?) p.(Asp765Glu) - VUS g.110112693T>A - FIG4(NM_014845.5):c.2295T>A (p.D765E) - FIG4_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2376+124G>A r.(=) p.(=) - likely benign g.110112898G>A g.109791695G>A FIG4(NM_014845.5):c.2376+124G>A - FIG4_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2377-71T>G r.(=) p.(=) - likely benign g.110113714T>G g.109792511T>G FIG4(NM_014845.5):c.2377-71T>G - FIG4_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2377-70G>T r.(=) p.(=) - likely benign g.110113715G>T g.109792512G>T FIG4(NM_014845.5):c.2377-70G>T - FIG4_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 3 - c.2377-20_2377-19insC r.(=) p.(=) - benign g.110113765_110113766insC g.109792562_109792563insC FIG4(NM_014845.5):c.2377-20_2377-19insC - FIG4_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC
-/. 4 - c.2377-19T>C r.(=) p.(=) - benign g.110113766T>C g.109792563T>C FIG4(NM_014845.5):c.2377-19T>C - FIG4_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
-/. 2 - c.2377-10del r.(=) p.(=) - benign g.110113775del g.109792572del FIG4(NM_014845.5):c.2377-10delT - FIG4_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.2459+7T>G r.(=) p.(=) - likely benign g.110113874T>G g.109792671T>G FIG4(NM_014845.5):c.2459+7T>G (p.(=)) - FIG4_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2459+90_2459+91del r.(=) p.(=) - likely benign g.110113957_110113958del g.109792754_109792755del FIG4(NM_014845.5):c.2459+90_2459+91delTT - FIG4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2459+91del r.(=) p.(=) - likely benign g.110113958del g.109792755del FIG4(NM_014845.5):c.2459+91delT - FIG4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2459+109T>C r.(=) p.(=) - VUS g.110113976T>C g.109792773T>C - - FIG4_000003 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.2459+1299T>C r.(=) p.(=) - VUS g.110115166T>C g.109793963T>C - - FIG4_000001 - - - - Germline - - - - - Yu Sun
+/. 3 17, 22 c.2467C>T r.(?) p.(Gln823*), p.(Gln823Ter) ACMG pathogenic, pathogenic (dominant) g.110117975C>T g.109796772C>T FIG4(NM_014845.5):c.2467C>T (p.Q823*) - FIG4_000018 ACMG: PVS1, PS4_mod, PM2, PM3: class 5, VKGL data sharing initiative Nederland PMID:21705420, PubMed: Nicholson 2011 ClinVar-000447336 - CLASSIFICATION record, Germline ? - - - - Johan den Dunnen, Andreas Laner, VKGL-NL_Rotterdam
?/. 1 - c.2519_2520del r.(?) p.(Ser840*) - VUS g.110118027_110118028del - FIG4(NM_014845.5):c.2519_2520delCT (p.S840*) - FIG4_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 2 - c.2547-5T>G r.spl? p.? - likely benign, VUS g.110146286T>G g.109825083T>G FIG4(NM_014845.5):c.2547-5T>G - FIG4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 6 - c.2559G>A r.(=), r.(?) p.(=), p.(Ser853=) - benign g.110146303G>A g.109825100G>A FIG4(NM_014845.5):c.2559G>A (p.S853=) - FIG4_000037 VKGL data sharing initiative Nederland - - rs9398218 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.2599A>G r.(?) p.(Arg867Gly) - likely benign g.110146343A>G g.109825140A>G FIG4(NM_014845.5):c.2599A>G (p.(Arg867Gly)) - FIG4_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 17 c.2695C>T r.(?) p.(Arg899*) - pathogenic g.110146439C>T g.109825236C>T - - FIG4_000019 - PubMed: Nicholson 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 17 c.2705T>C r.(?) p.(Ile902Thr) - pathogenic g.110146449T>C g.109825246T>C - - FIG4_000020 - PubMed: Chow 2009 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.*7C>T r.(=) p.(=) - benign g.110146475C>T - FIG4(NM_014845.5):c.*7C>T - FIG4_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.*120C>T r.(=) p.(=) - benign g.110146588C>T g.109825385C>T FIG4(NM_014845.5):c.*120C>T - FIG4_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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