All variants in the FN1 gene

Information The variants shown are described using the NM_212482.1 transcript reference sequence.

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

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     
./. - c.? r.(?) p.(Glu483Arg() - VUS g.? - A1448G - SNRNP200_000007 - PubMed: Lin 2014, Journal: Lin 2014 - - Germline - - - - - Judy Savige
-?/. - c.40G>C r.(?) p.(Val14Leu) - likely benign g.216300486C>G g.215435763C>G FN1(NM_212482.2):c.40G>C (p.V14L) - FN1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.40G>C r.(?) p.(Val14Leu) - likely benign g.216300486C>G - FN1(NM_212482.2):c.40G>C (p.V14L) - FN1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.44A>T r.(?) p.(Gln15Leu) - benign g.216300482T>A g.215435759T>A FN1(NM_212482.4):c.44A>T (p.Q15L) - FN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.44A>T r.(?) p.(Gln15Leu) - benign g.216300482T>A g.215435759T>A FN1(NM_212482.4):c.44A>T (p.Q15L) - FN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.54G>C r.(?) p.(Gly18=) - likely benign g.216300472C>G - FN1(NM_212482.2):c.54G>C (p.G18=) - FN1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.56C>T r.(?) p.(Thr19Ile) - benign g.216300470G>A - FN1(NM_212482.2):c.56C>T (p.T19I) - FN1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.121T>G r.(?) p.(Ser41Ala) - likely benign g.216300405A>C - FN1(NM_002026.2):c.121T>G (p.(Ser41Ala)), FN1(NM_212482.2):c.121T>G (p.S41A) - FN1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.121T>G r.(?) p.(Ser41Ala) - benign g.216300405A>C - FN1(NM_002026.2):c.121T>G (p.(Ser41Ala)), FN1(NM_212482.2):c.121T>G (p.S41A) - FN1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.149-4G>T r.spl? p.? - benign g.216299551C>A g.215434828C>A FN1(NM_212482.4):c.149-4G>T - FN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.149-4G>T r.spl? p.? - benign g.216299551C>A g.215434828C>A FN1(NM_212482.4):c.149-4G>T - FN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.149-3C>T r.spl? p.? - benign g.216299550G>A g.215434827G>A FN1(NM_212482.4):c.149-3C>T - FN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.149-3C>T r.spl? p.? - benign g.216299550G>A g.215434827G>A FN1(NM_212482.4):c.149-3C>T - FN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.199C>A r.(?) p.(Arg67=) - likely benign g.216299497G>T - FN1(NM_212482.2):c.199C>A (p.R67=) - FN1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.260G>T r.(?) p.(Cys87Phe) - pathogenic g.216299436C>A g.215434713C>A - - FN1_000002 - PubMed: Lee 2017 - - Germline yes - - - - Johan den Dunnen
?/. - c.301T>A r.(?) p.(Tyr101Asn) - VUS g.216298161A>T - - - FN1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.367T>C r.(?) p.(Cys123Arg) - pathogenic g.216298095A>G g.215433372A>G - - FN1_000003 - PubMed: Lee 2017 - - De novo - - - - - Johan den Dunnen
+/. - c.367T>C r.(?) p.(Cys123Arg) - pathogenic g.216298095A>G g.215433372A>G - - FN1_000003 - PubMed: Lee 2017 - - De novo - - - - - Johan den Dunnen
-/. - c.378C>T r.(?) p.(Ile126=) - benign g.216298084G>A g.215433361G>A - - FN1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.404G>A r.(?) p.(Cys135Tyr) - VUS g.216298058C>T g.215433335C>T - - FN1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.416-17C>T r.(=) p.(=) - likely benign g.216296704G>A - FN1(NM_212482.2):c.416-17C>T - FN1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.499T>A r.(?) p.(Cys167Ser) - likely pathogenic g.216296604A>T - - - FN1_000138 - - - - CLASSIFICATION record - - - - - MobiDetails
+?/. - c.535_544delinsC r.(?) p.(Cys179_Ile182delinsLeu) - likely pathogenic g.216296559_216296568delinsG - - - FN1_000115 - - - - Unknown - - - - - MobiDetails
-?/. - c.547+19T>C r.(=) p.(=) - likely benign g.216296537A>G g.215431814A>G - - FN1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.591C>A r.(?) p.(Val197=) - likely benign g.216295532G>T - FN1(NM_212482.2):c.591C>A (p.V197=) - FN1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.638G>A r.(?) p.(Cys213Tyr) - VUS g.216295485C>T - FN1(NM_212482.2):c.638G>A (p.C213Y) - FN1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.638G>A r.(?) p.(Cys213Tyr) - likely pathogenic g.216295485C>T - FN1(NM_212482.2):c.638G>A (p.C213Y) - FN1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.645C>G r.(?) p.(Cys215Trp) - VUS g.216295478G>C g.215430755G>C - - FN1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.653A>C r.(?) p.(Glu218Ala) - VUS g.216295470T>G g.215430747T>G FN1(NM_212482.2):c.653A>C (p.E218A) - FN1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.675C>G r.(?) p.(Cys225Trp) - pathogenic g.216295448G>C g.215430725G>C - - FN1_000004 - PubMed: Lee 2017 - - De novo - - - - - Johan den Dunnen
?/. - c.675C>G r.(?) p.(Cys225Trp) - VUS g.216295448G>C g.215430725G>C - - FN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.718T>G r.(?) p.(Tyr240Asp) - pathogenic g.216293029A>C g.215428306A>C - - FN1_000005 - PubMed: Lee 2017 - - Germline - - - - - Johan den Dunnen
?/. - c.751A>T r.(?) p.(Asn251Tyr) - VUS g.216292996T>A g.215428273T>A FN1(NM_212482.2):c.751A>T (p.N251Y) - FN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.751A>T r.(?) p.(Asn251Tyr) - benign g.216292996T>A - FN1(NM_212482.2):c.751A>T (p.N251Y) - FN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.778T>G r.(?) p.(Cys260Gly) - pathogenic g.216292969A>C g.215428246A>C - - FN1_000006 - PubMed: Lee 2017 - - De novo - - - - - Johan den Dunnen
?/. - c.790G>A r.(?) p.(Gly264Ser) - VUS g.216292957C>T - FN1(NM_212482.4):c.790G>A (p.(Gly264Ser)) - FN1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.932A>T r.(?) p.(Asp311Val) - VUS g.216289921T>A - FN1(NM_212482.4):c.932A>T (p.(Asp311Val)) - FN1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1070G>A r.(?) p.(Gly357Glu) - likely benign g.216289015C>T g.215424292C>T FN1(NM_212482.2):c.1070G>A (p.G357E), FN1(NM_212482.4):c.1070G>A (p.G357E) - FN1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1070G>A r.(?) p.(Gly357Glu) - likely benign g.216289015C>T g.215424292C>T FN1(NM_212482.2):c.1070G>A (p.G357E), FN1(NM_212482.4):c.1070G>A (p.G357E) - FN1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1070G>A r.(?) p.(Gly357Glu) - likely benign g.216289015C>T - FN1(NM_212482.2):c.1070G>A (p.G357E), FN1(NM_212482.4):c.1070G>A (p.G357E) - FN1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1101T>C r.(?) p.(Asn367=) - benign g.216288984A>G g.215424261A>G - - FN1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1217-8C>A r.(=) p.(=) - VUS g.216288257G>T g.215423534G>T FN1(NM_212482.4):c.1217-8C>A - FN1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1219T>G r.(?) p.(Leu407Val) - VUS g.216288247A>C - FN1(NM_212482.1):c.1219T>G (p.(Leu407Val)) - FN1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1327A>C r.(?) p.(Met443Leu) - VUS g.216288139T>G g.215423416T>G - - FN1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1425G>C r.(?) p.(Gly475=) - likely benign g.216286935C>G - FN1(NM_212482.2):c.1425G>C (p.G475=) - FN1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1530C>T r.(?) p.(Ala510=) - likely benign g.216286830G>A - FN1(NM_212482.2):c.1530C>T (p.A510=) - FN1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1535C>T r.(?) p.(Ser512Leu) - likely benign g.216286825G>A - FN1(NM_212482.4):c.1535C>T (p.(Ser512Leu)) - FN1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1601G>A r.(?) p.(Arg534His) - likely benign g.216285470C>T - FN1(NM_212482.2):c.1601G>A (p.R534H) - FN1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1612G>T r.(?) p.(Gly538Trp) - VUS g.216285459C>A - FN1(NM_212482.1):c.1612G>T (p.(Gly538Trp)) - FN1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1626C>T r.(?) p.(Asn542=) - likely benign g.216285445G>A - FN1(NM_212482.2):c.1626C>T (p.N542=) - FN1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1670C>T r.(?) p.(Pro557Leu) - likely benign g.216285401G>A - FN1(NM_212482.4):c.1670C>T (p.(Pro557Leu)) - FN1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1676-177del r.(=) p.(=) - benign g.216284294del g.215419571del FN1(NM_212482.2):c.1676-177delT - FN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1774C>T r.(?) p.(Arg592Cys) - VUS g.216284010G>A - FN1(NM_212482.1):c.1774C>T (p.(Arg592Cys)) - FN1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1775G>A r.(?) p.(Arg592His) - likely benign g.216284009C>T - FN1(NM_212482.2):c.1775G>A (p.R592H) - FN1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1801C>G r.(?) p.(Pro601Ala) - VUS g.216283983G>C g.215419260G>C - - FN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1819+7A>T r.(=) p.(=) - benign g.216283958T>A g.215419235T>A FN1(NM_212482.4):c.1819+7A>T - FN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1819+7A>T r.(=) p.(=) - benign g.216283958T>A g.215419235T>A FN1(NM_212482.4):c.1819+7A>T - FN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1820-16A>G r.(=) p.(=) - likely benign g.216279697T>C - FN1(NM_212482.2):c.1820-16A>G - FN1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./. - c.1897C>G r.(?) p.(Pro633Ala) - likely pathogenic g.216279604G>C g.215414881G>C NM_212482.2(FN1):c.1897C>G p.(Pro633Ala) - FN1_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
-/. - c.1942-20_1942-17dup r.(=) p.(=) - benign g.216274872_216274875dup - FN1(NM_212482.2):c.1942-22_1942-19dupGTGT - FN1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1942-18_1942-17del r.(=) p.(=) - benign g.216274874_216274875del g.215410151_215410152del FN1(NM_212482.2):c.1942-18_1942-17delGT - FN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1942-18_1942-17dup r.(=) p.(=) - benign g.216274874_216274875dup g.215410151_215410152dup FN1(NM_212482.2):c.1942-18_1942-17dupGT - FN1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2061C>T r.(?) p.(Tyr687=) - likely benign g.216274718G>A g.215409995G>A FN1(NM_212482.2):c.2061C>T (p.Y687=) - FN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2105C>T r.(?) p.(Thr702Ile) - VUS g.216274674G>A g.215409951G>A FN1(NM_212482.2):c.2105C>T (p.T702I) - FN1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2105C>T r.(?) p.(Thr702Ile) - VUS g.216274674G>A - FN1(NM_212482.2):c.2105C>T (p.T702I) - FN1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2122+10C>T r.(=) p.(=) - likely benign g.216274647G>A g.215409924G>A FN1(NM_212482.2):c.2122+10C>T - FN1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2129C>T r.(?) p.(Thr710Ile) - likely benign g.216274456G>A - FN1(NM_212482.2):c.2129C>T (p.T710I) - FN1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2130C>T r.(?) p.(Thr710=) - likely benign g.216274455G>A - FN1(NM_212482.2):c.2130C>T (p.T710=) - FN1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2130C>T r.(?) p.(Thr710=) - likely benign g.216274455G>A - FN1(NM_212482.2):c.2130C>T (p.T710=) - FN1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2144C>T r.(?) p.(Thr715Met) - benign g.216274441G>A g.215409718G>A FN1(NM_212482.2):c.2144C>T (p.T715M) - FN1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2261A>G r.(?) p.(Tyr754Cys) - likely benign g.216274324T>C - - - FN1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2413A>G r.(?) p.(Thr805Ala) - likely benign g.216273036T>C - FN1(NM_212482.2):c.2413A>G (p.T805A) - FN1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.2425_2427del r.(?) p.(Thr809del) - pathogenic g.216273026_216273028del g.215408303_215408305del - - FN1_000007 - PubMed: Lee 2017 - - De novo - - - - - Johan den Dunnen
-/. - c.2442T>A r.(?) p.(Pro814=) - benign g.216272907A>T g.215408184A>T FN1(NM_212482.4):c.2442T>A (p.P814=) - FN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.2442T>A r.(?) p.(Pro814=) - benign g.216272907A>T g.215408184A>T FN1(NM_212482.4):c.2442T>A (p.P814=) - FN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2449= r.(=) p.(Pro817=) - benign g.216272900T>G - FN1(NM_212482.4):c.2449A>C (p.T817P) - FN1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2465T>C r.(?) p.(Val822Ala) - VUS g.216272884A>G - FN1(NM_212482.4):c.2465T>C (p.(Val822Ala)) - FN1_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2489G>A r.(?) p.(Arg830His) - likely benign g.216272860C>T - FN1(NM_212482.2):c.2489G>A (p.R830H) - FN1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2518+12G>C r.(=) p.(=) - benign g.216272819C>G g.215408096C>G FN1(NM_212482.4):c.2518+12G>C - FN1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.2518+12G>C r.(=) p.(=) - benign g.216272819C>G g.215408096C>G FN1(NM_212482.4):c.2518+12G>C - FN1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2592C>T r.(?) p.(Ser864=) - likely benign g.216271971G>A - FN1(NM_212482.2):c.2592C>T (p.S864=), FN1(NM_212482.4):c.2592C>T (p.(Ser864=)) - FN1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2592C>T r.(?) p.(Ser864=) - likely benign g.216271971G>A - FN1(NM_212482.2):c.2592C>T (p.S864=), FN1(NM_212482.4):c.2592C>T (p.(Ser864=)) - FN1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2714-11_2714-10del r.(=) p.(=) - likely benign g.216271243_216271244del - FN1(NM_212482.2):c.2714-11_2714-10delTT, FN1(NM_212482.4):c.2714-11_2714-10del - FN1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2714-11_2714-10del r.(=) p.(=) - benign g.216271243_216271244del - FN1(NM_212482.2):c.2714-11_2714-10delTT, FN1(NM_212482.4):c.2714-11_2714-10del - FN1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2714-10T>C r.(=) p.(=) - likely benign g.216271243A>G g.215406520A>G - - FN1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2772C>T r.(?) p.(Thr924=) - likely benign g.216271175G>A - FN1(NM_212482.2):c.2772C>T (p.T924=) - FN1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.3051G>T r.(?) p.(Trp1017Cys) - pathogenic g.216269314C>A g.215404591C>A - - FN1_000069 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797044906 Germline - 1/2795 individuals - - - Mohammed Faruq
-/. - c.3111A>C r.(?) p.(Gly1037=) - benign g.216269254T>G g.215404531T>G - - FN1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3118A>G r.(?) p.(Arg1040Gly) - likely benign g.216269247T>C - FN1(NM_212482.2):c.3118A>G (p.R1040G) - FN1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.3156A>C r.(?) p.(Pro1052=) - benign g.216269209T>G g.215404486T>G - - FN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3189C>T r.(?) p.(Thr1063=) - likely benign g.216269176G>A - FN1(NM_212482.2):c.3189C>T (p.T1063=) - FN1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.3190G>A r.(?) p.(Val1064Ile) - benign g.216269175C>T - FN1(NM_212482.2):c.3190G>A (p.V1064I) - FN1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.3253+17G>A r.(=) p.(=) - benign g.216269095C>T g.215404372C>T - - FN1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.3253+79A>C r.(=) p.(=) - benign g.216269033T>G g.215404310T>G FN1(NM_212482.2):c.3253+79A>C - FN1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.3289G>A r.(?) p.(Glu1097Lys) - VUS g.216264039C>T - FN1(NM_212482.1):c.3289G>A (p.(Glu1097Lys)) - FN1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3307A>C r.(?) p.(Ile1103Leu) - likely benign g.216264021T>G - FN1(NM_212482.2):c.3307A>C (p.I1103L) - FN1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3364A>C r.(?) p.(Ser1122Arg) - likely benign g.216262556T>G - FN1(NM_212482.4):c.3364A>C (p.(Ser1122Arg)) - FN1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3424G>A r.(?) p.(Gly1142Ser) - VUS g.216262496C>T - FN1(NM_212482.1):c.3424G>A (p.(Gly1142Ser)) - FN1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3515C>T r.(?) p.(Thr1172Ile) - VUS g.216262405G>A - FN1(NM_002026.2):c.3515C>T (p.(Thr1172Ile)) - FN1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3517+3A>G r.spl? p.? - likely benign g.216262400T>C - FN1(NM_212482.2):c.3517+3A>G - FN1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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