All variants in the FYCO1 gene

Information The variants shown are described using the NM_024513.3 transcript reference sequence.

161 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.-113+8C>A r.(=) p.(=) - likely benign g.46037206G>T g.45995714G>T FYCO1(NM_024513.3):c.-113+8C>A - CXCR6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.56-4A>G r.spl? p.? - likely benign g.46023172T>C g.45981680T>C FYCO1(NM_024513.3):c.56-4A>G - CXCR6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.186C>T r.(?) p.(Thr62=) - likely benign g.46021299G>A g.45979807G>A FYCO1(NM_024513.3):c.186C>T (p.T62=) - FYCO1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 4 c.215A>T r.(?) p.(Asp72Val) - VUS g.46021270T>A g.45979778T>A - - FYCO1_000061 - PubMed: Liu 2023 - - Germline - - - - - Johan den Dunnen
-/. - c.267C>A r.(?) p.(Arg89=) - benign g.46021218G>T g.45979726G>T FYCO1(NM_024513.4):c.267C>A (p.R89=) - FYCO1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.267C>A r.(?) p.(Arg89=) - likely benign g.46021218G>T g.45979726G>T - - FYCO1_000019 - PubMed: Li 2019 - rs4682801 Germline - - - - - Johan den Dunnen
-?/. - c.267C>A r.(?) p.(Arg89=) - likely benign g.46021218G>T g.45979726G>T - - FYCO1_000019 - PubMed: Li 2019 - rs4682801 Germline - - - - - Johan den Dunnen
-?/. - c.267C>A r.(?) p.(Arg89=) - likely benign g.46021218G>T g.45979726G>T - - FYCO1_000019 - PubMed: Li 2019 - rs4683158 Germline - - - - - Johan den Dunnen
-/. - c.267C>A r.(?) p.(Arg89=) - benign g.46021218G>T g.45979726G>T - - FYCO1_000019 homozygous and heterozygous cases PubMed: Saleem 2022 - rs4682801 Germline - 21/25 families cataract - - - Johan den Dunnen
-/. - c.289-14T>A r.(=) p.(=) - benign g.46016851A>T g.45975359A>T FYCO1(NM_024513.4):c.289-14T>A - FYCO1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.289-14T>A r.(?) p.(=) - benign g.46016851A>T g.45975359A>T - - FYCO1_000018 - PubMed: Saleem 2022 - rs751552 Germline - 16/25 families cataract - - - Johan den Dunnen
?/. - c.356A>G r.(?) p.(Asp119Gly) - VUS g.46016770T>C g.45975278T>C - - CXCR6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.395+2T>G r.spl p.(?) ACMG likely pathogenic g.46016729A>C g.45975237A>C FYCO1 c.539+3A>G het FYCO1 c.395+2T>G het - FYCO1_000030 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - LOVD
+/. - c.449T>C r.(?) p.(Ile150Thr) - pathogenic (recessive) g.46014670A>G g.45973178A>G T449C - FYCO1_000040 - PubMed: Khan 2015 - - Germline - - - - - Johan den Dunnen
+?/. - c.539+3A>G r.spl p.(?) ACMG likely pathogenic g.46014577T>C g.45973085T>C FYCO1 c.539+3A>G het FYCO1 c.395+2T>G het - FYCO1_000029 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - LOVD
-?/. - c.539+35A>C r.(?) p.(=) - likely benign g.46014545T>G g.45973053T>G - - FYCO1_000054 - PubMed: Saleem 2022 - rs41289622 Germline - 6/25 families cataract - - - Johan den Dunnen
?/. - c.630+5G>A r.spl? p.? - VUS g.46011162C>T - FYCO1(NM_024513.3):c.630+5G>A - CXCR6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.713A>C r.(?) p.(Glu238Ala) - benign g.46010113T>G g.45968621T>G FYCO1(NM_024513.3):c.713A>C (p.E238A) - FYCO1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.713A>C r.(?) p.(Glu238Ala) - VUS g.46010113T>G g.45968621T>G - - FYCO1_000017 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117543659 Germline - 5/2795 individuals - - - Mohammed Faruq
?/. - c.734G>A r.(?) p.(Arg245Gln) - VUS g.46010092C>T g.45968600C>T FYCO1(NM_024513.3):c.734G>A (p.R245Q) - CXCR6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.749G>A r.(?) p.(Arg250Gln) - benign g.46010077C>T g.45968585C>T FYCO1(NM_024513.4):c.749G>A (p.R250Q) - FYCO1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.749G>A r.(?) p.(Arg250Gln) - likely benign g.46010077C>T g.45968585C>T - - FYCO1_000016 - PubMed: Li 2019 - rs4683158 Germline - - - - - Johan den Dunnen
-?/. - c.749G>A r.(?) p.(Arg250Gln) - likely benign g.46010077C>T g.45968585C>T - - FYCO1_000016 - PubMed: Li 2019 - rs4683158 Germline - - - - - Johan den Dunnen
-?/. - c.749G>A r.(?) p.(Arg250Gln) - likely benign g.46010077C>T g.45968585C>T - - FYCO1_000016 - PubMed: Li 2019 - rs4683158 Germline - - - - - Johan den Dunnen
-?/. - c.749G>A r.(?) p.(Arg250Gln) - likely benign g.46010077C>T g.45968585C>T - - FYCO1_000016 - PubMed: Li 2019 - rs4683158 Germline - - - - - Johan den Dunnen
-?/. - c.749G>A r.(?) p.(Arg250Gln) - likely benign g.46010077C>T g.45968585C>T - - FYCO1_000016 - PubMed: Li 2019 - rs4683158 Germline - - - - - Johan den Dunnen
+/. - c.778_796del r.(?) p.(Asn260LeufsTer30) - pathogenic g.46010032_46010050del - FYCO1(NM_024513.4):c.778_796delAACCAGGAGCTGAGGGCAG (p.N260Lfs*30) - CXCR6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.808C>T r.(?) p.(Gln270Ter) - pathogenic (recessive) g.46010018G>A g.45968526G>A - - FYCO1_000056 - PubMed: Li 2018 - - Germline - - - - - Johan den Dunnen
-?/. - c.819A>G r.(?) p.(Gln273=) - likely benign g.46010007T>C g.45968515T>C - - FYCO1_000036 - PubMed: Li 2019 - rs13071283 Germline - - - - - Johan den Dunnen
-/. - c.819A>G r.(?) p.(Gln273=) - benign g.46010007T>C g.45968515T>C - - FYCO1_000036 - PubMed: Saleem 2022 - rs13071283 Germline - 10/25 families cataract - - - Johan den Dunnen
?/. - c.844C>G r.(?) p.(Arg282Gly) - VUS g.46009982G>C - FYCO1(NM_024513.3):c.844C>G (p.R282G) - CXCR6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.869G>A r.(?) p.(Arg290His) - likely benign g.46009957C>T - FYCO1(NM_024513.3):c.869G>A (p.R290H) - CXCR6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.962G>C r.(?) p.(Gly321Ala) - benign g.46009864C>G g.45968372C>G FYCO1(NM_024513.4):c.962G>C (p.G321A) - FYCO1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.962G>C r.(?) p.(Gly321Ala) - likely benign g.46009864C>G g.45968372C>G - - FYCO1_000015 - PubMed: Li 2019 - rs3733100 Germline - - - - - Johan den Dunnen
-?/. - c.962G>C r.(?) p.(Gly321Ala) - likely benign g.46009864C>G g.45968372C>G - - FYCO1_000015 - PubMed: Li 2019 - rs3733100 Germline - - - - - Johan den Dunnen
-?/. - c.962G>C r.(?) p.(Gly321Ala) - likely benign g.46009864C>G g.45968372C>G - - FYCO1_000015 - PubMed: Li 2019 - rs3733100 Germline - - - - - Johan den Dunnen
-?/. - c.962G>C r.(?) p.(Gly321Ala) - likely benign g.46009864C>G g.45968372C>G - - FYCO1_000015 - PubMed: Li 2019 - rs3733100 Germline - - - - - Johan den Dunnen
-?/. - c.1016G>A r.(?) p.(Arg339Gln) - likely benign g.46009810C>T g.45968318C>T FYCO1(NM_024513.3):c.1016G>A (p.(Arg339Gln)) - CXCR6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 8 c.1045C>T r.(?) p.(Gln349Ter) - pathogenic (recessive) g.46009781G>A g.45968289G>A - - FYCO1_000053 - PubMed: Chen 2011 - - Germline yes - - - - Johan den Dunnen
-?/. - c.1063C>T r.(?) p.(Arg355Trp) - likely benign g.46009763G>A g.45968271G>A FYCO1(NM_024513.3):c.1063C>T (p.R355W) - FYCO1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1121T>C r.(?) p.(Met374Thr) - likely benign g.46009705A>G g.45968213A>G FYCO1(NM_024513.3):c.1121T>C (p.M374T) - FYCO1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1141dup r.(?) p.(Thr381AsnfsTer15) - pathogenic g.46009685dup g.45968193dup FYCO1(NM_024513.3):c.1141dupA (p.T381Nfs*15) - CXCR6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1142C>T r.(?) p.(Thr381Met) - benign g.46009684G>A g.45968192G>A FYCO1(NM_024513.3):c.1142C>T (p.T381M) - CXCR6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1237del r.(?) p.(Glu413ArgfsTer25) ACMG pathogenic g.46009591del g.45968099del FYCO1 c.2443delA p.(Met815TrpfsTer6) het FYCO1 c.1237delG p.(Glu413ArgfsTer25) het - FYCO1_000028 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - LOVD
?/. - c.1252G>A r.(?) p.(Glu418Lys) - VUS g.46009574C>T - FYCO1(NM_024513.3):c.1252G>A (p.E418K) - CXCR6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1288C>T r.(?) p.(Gln430Ter) - pathogenic g.46009538G>A g.45968046G>A FYCO1(NM_024513.3):c.1288C>T (p.Q430*) - FYCO1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1325G>A r.(?) p.(Arg442Gln) - likely benign g.46009501C>T g.45968009C>T FYCO1(NM_024513.3):c.1325G>A (p.(Arg442Gln)) - CXCR6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1335G>A r.(?) p.(Leu445=) - likely benign g.46009491C>T g.45967999C>T - - FYCO1_000035 - PubMed: Li 2019 - rs3796376 Germline - - - - - Johan den Dunnen
-?/. - c.1335G>A r.(?) p.(Leu445=) - likely benign g.46009491C>T g.45967999C>T - - FYCO1_000035 - PubMed: Li 2019 - rs3796376 Germline - - - - - Johan den Dunnen
-/. - c.1335G>A r.(?) p.(Leu445=) - benign g.46009491C>T g.45967999C>T - - FYCO1_000035 homozygous and heterozygous cases PubMed: Saleem 2022 - rs3796376 Germline - 14/25 families cataract - - - Johan den Dunnen
-?/. - c.1339C>T r.(?) p.(Arg447Cys) - likely benign g.46009487G>A g.45967995G>A - - FYCO1_000034 - PubMed: Li 2019 - rs33910087 Germline - - - - - Johan den Dunnen
-?/. - c.1387G>A r.(?) p.(Gly463Arg) - likely benign g.46009439C>T g.45967947C>T FYCO1(NM_024513.3):c.1387G>A (p.(Gly463Arg)) - CXCR6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1387G>T r.(?) p.(Gly463Ter) - pathogenic g.46009439C>A g.45967947C>A - - FYCO1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1387G>T r.(?) p.(Gly463*) - pathogenic (recessive) g.46009439C>A g.45967947C>A - - FYCO1_000022 - Journal: Al-Badran2022 - - Germline yes - - - - Johan den Dunnen
-?/. - c.1474C>T r.(?) p.(Arg492Trp) - likely benign g.46009352G>A g.45967860G>A FYCO1(NM_024513.3):c.1474C>T (p.R492W) - FYCO1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1538G>A r.(?) p.(Arg513Gln) ACMG VUS g.46009288C>T g.45967796C>T - - FYCO1_000052 - PubMed: Javadiyan 2017 - - Germline no - - - - Johan den Dunnen
+/. 8 c.1546C>T r.(?) p.(Gln516Ter) - pathogenic (recessive) g.46009280G>A g.45967788G>A - - FYCO1_000051 - PubMed: Pras 2011, PubMed: Chen 2011 - - Germline yes - - - - Johan den Dunnen
?/. - c.1549T>A r.(?) p.(Phe517Ile) - VUS g.46009277A>T - FYCO1(NM_024513.3):c.1549T>A (p.F517I) - CXCR6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1621C>T r.(?) p.(Gln541*) - pathogenic (recessive) g.46009205G>A g.45967713G>A - - FYCO1_000037 - PubMed: Barashkov 2021 - - Germline yes - - - - Johan den Dunnen
+/. - c.1621C>T r.(?) p.(Gln541*) - pathogenic (recessive) g.46009205G>A g.45967713G>A - - FYCO1_000037 - PubMed: Barashkov 2021 - - Germline - 10/126 control chromosomes - - - Johan den Dunnen
+/. - c.1621C>T r.(?) p.(Gln541*) - pathogenic (recessive) g.46009205G>A g.45967713G>A - - FYCO1_000037 - PubMed: Barashkov 2021 - - Germline - 24/29 families cataract - - - Johan den Dunnen
-?/. - c.1843C>T r.(?) p.(Arg615Trp) - likely benign g.46008983G>A g.45967491G>A FYCO1(NM_024513.3):c.1843C>T (p.R615W, p.(Arg615Trp)) - FYCO1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1843C>T r.(?) p.(Arg615Trp) - likely benign g.46008983G>A g.45967491G>A FYCO1(NM_024513.3):c.1843C>T (p.R615W, p.(Arg615Trp)) - FYCO1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1887C>T r.(?) p.(Val629=) - likely benign g.46008939G>A g.45967447G>A FYCO1(NM_024513.3):c.1887C>T (p.V629=) - CXCR6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1985C>T r.(?) p.(Ser662Phe) - benign g.46008841G>A g.45967349G>A FYCO1(NM_024513.3):c.1985C>T (p.S662F, p.(Ser662Phe)) - CXCR6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1985C>T r.(?) p.(Ser662Phe) - likely benign g.46008841G>A g.45967349G>A FYCO1(NM_024513.3):c.1985C>T (p.S662F, p.(Ser662Phe)) - CXCR6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1985C>T r.(?) p.(Ser662Phe) - VUS g.46008841G>A g.45967349G>A - - CXCR6_000008 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150785981 Germline - 2/2795 individuals - - - Mohammed Faruq
-/. - c.2006G>A r.(?) p.(Ser669Asn) - benign g.46008820C>T g.45967328C>T FYCO1(NM_024513.3):c.2006G>A (p.S669N, p.(Ser669Asn)) - CXCR6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2006G>A r.(?) p.(Ser669Asn) - likely benign g.46008820C>T g.45967328C>T FYCO1(NM_024513.3):c.2006G>A (p.S669N, p.(Ser669Asn)) - CXCR6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2036C>T r.(?) p.(Ala679Val) - benign g.46008790G>A g.45967298G>A FYCO1(NM_024513.4):c.2036C>T (p.A679V) - FYCO1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2036C>T r.(?) p.(Ala679Val) - likely benign g.46008790G>A g.45967298G>A - - FYCO1_000008 - PubMed: Li 2019 - rs3796375 Germline - - - - - Johan den Dunnen
-?/. - c.2036C>T r.(?) p.(Ala679Val) - likely benign g.46008790G>A g.45967298G>A - - FYCO1_000008 - PubMed: Li 2019 - rs3796375 Germline - - - - - Johan den Dunnen
-?/. - c.2036C>T r.(?) p.(Ala679Val) - likely benign g.46008790G>A g.45967298G>A - - FYCO1_000008 - PubMed: Li 2019 - rs3796375 Germline - - - - - Johan den Dunnen
-?/. - c.2036C>T r.(?) p.(Ala679Val) - likely benign g.46008790G>A g.45967298G>A - - FYCO1_000008 - PubMed: Li 2019 - rs3796375 Germline - - - - - Johan den Dunnen
-?/. - c.2037G>A r.(?) p.(Ala679=) - likely benign g.46008789C>T g.45967297C>T FYCO1(NM_024513.3):c.2037G>A (p.A679=) - FYCO1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2109G>A r.(?) p.(Gln703=) - likely benign g.46008717C>T - FYCO1(NM_024513.3):c.2109G>A (p.Q703=) - CXCR6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2179C>A r.(?) p.(His727Asn) - benign g.46008647G>T g.45967155G>T FYCO1(NM_024513.3):c.2179C>A (p.H727N) - FYCO1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2206C>T r.(?) p.(Gln736*) - pathogenic (recessive) g.46008620G>A g.45967128G>A - - FYCO1_000023 - PubMed: Chen 2017 - - Germline yes - - - - Johan den Dunnen
+/. - c.2206C>T r.(?) p.(Gln736*) - pathogenic (recessive) g.46008620G>A g.45967128G>A - - FYCO1_000023 - PubMed: Chen 2017 - - Germline yes - - - - Johan den Dunnen
+/. - c.2206C>T r.(?) p.(Gln736*) - pathogenic (recessive) g.46008620G>A g.45967128G>A - - FYCO1_000023 - PubMed: Ullah 2023 - - Germline yes - - - - Johan den Dunnen
+/. - c.2206C>T r.(?) p.(Gln736*) - pathogenic (recessive) g.46008620G>A g.45967128G>A - - FYCO1_000023 - PubMed: Ullah 2023 - - Germline yes - - - - Johan den Dunnen
+/. - c.2206C>T r.(?) p.(Gln736*) - pathogenic (recessive) g.46008620G>A g.45967128G>A - - FYCO1_000023 - PubMed: Ullah 2023 - - Germline yes - - - - Johan den Dunnen
+/. - c.2206C>T r.(?) p.(Gln736*) - pathogenic (recessive) g.46008620G>A g.45967128G>A - - FYCO1_000023 - PubMed: Ullah 2023 - - Germline yes - - - - Johan den Dunnen
+/. - c.2206C>T r.(?) p.(Gln736*) - pathogenic (recessive) g.46008620G>A g.45967128G>A - - FYCO1_000023 - Abouzeid, ARVO 2012:1723 - - Germline yes - - - - Johan den Dunnen
+/. 8 c.2206C>T r.(?) p.(Gln736Ter) - pathogenic (recessive) g.46008620G>A g.45967128G>A - - FYCO1_000023 - PubMed: Chen 2011 - - Germline yes - - - - Johan den Dunnen
+/. 8 c.2206C>T r.(?) p.(Gln736Ter) - pathogenic (recessive) g.46008620G>A g.45967128G>A - - FYCO1_000023 - PubMed: Chen 2011 - - Germline yes - - - - Johan den Dunnen
+/. 8 c.2206C>T r.(?) p.(Gln736Ter) - pathogenic (recessive) g.46008620G>A g.45967128G>A - - FYCO1_000023 - PubMed: Chen 2011 - - Germline yes - - - - Johan den Dunnen
-?/. - c.2242A>G r.(?) p.(Thr748Ala) - likely benign g.46008584T>C - FYCO1(NM_024513.3):c.2242A>G (p.T748A) - CXCR6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2345del r.(?) p.(Gln782Argfs*32) - pathogenic (recessive) g.46008481del g.45966989del 2345delA - FYCO1_000024 - PubMed: Chen 2017 - - Germline yes - - - - Johan den Dunnen
+/. - c.2345del r.(?) p.(Gln782ArgfsTer32) - pathogenic (recessive) g.46008481del g.45966989del - - FYCO1_000024 - PubMed: Patel 2017 - - Germline yes - - - - Johan den Dunnen
+/. 8 c.2365C>T r.(?) p.(Gln789*) - pathogenic (recessive) g.46008461G>A g.45966969G>A - - FYCO1_000038 - PubMed: Aprahamian 2021 - - Germline - - - - - Johan den Dunnen
+?/. - c.2407_2408del r.(?) p.(Leu803GlyfsTer2) - likely pathogenic (recessive) g.46008418_46008419del g.45966926_45966927del - - FYCO1_000060 ACMG PVS1, PM2 PubMed: Kessel 2021 - - Germline - - - - - Johan den Dunnen
?/. - c.2427G>A r.(?) p.(Val809=) - VUS g.46008399C>T - FYCO1(NM_024513.3):c.2427G>A (p.V809=) - CXCR6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2443del r.(?) p.(Met815TrpfsTer6) ACMG pathogenic g.46008383del g.45966891del FYCO1 c.2443delA p.(Met815TrpfsTer6) het FYCO1 c.1237delG p.(Glu413ArgfsTer25) het - FYCO1_000027 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - LOVD
+/. - c.2505del r.(?) p.(Ala836Profs*80) - pathogenic (recessive) g.46008322del g.45966830del - - FYCO1_000039 - PubMed: Aldahmesh 2012, PubMed: Khan 2015 - - Germline yes - - - - Johan den Dunnen
+/. - c.2505del r.(?) p.(Ala836ProfsTer80) - pathogenic (recessive) g.46008322del g.45966830del c.2505delA - FYCO1_000039 - PubMed: Patel 2017 - - Germline yes - - - - Johan den Dunnen
-?/. - c.2541A>G r.(?) p.(Gln847=) - likely benign g.46008285T>C - FYCO1(NM_024513.3):c.2541A>G (p.Q847=) - CXCR6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2612G>A r.(?) p.(Arg871Gln) - likely benign g.46008214C>T - FYCO1(NM_024513.3):c.2612G>A (p.R871Q) - CXCR6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2613G>A r.(?) p.(Arg871=) - likely benign g.46008213C>T g.45966721C>T FYCO1(NM_024513.3):c.2613G>A (p.R871=) - CXCR6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2714_2715del r.(?) p.(Thr905SerfsTer2) - pathogenic (recessive) g.46008114_46008115del g.45966622_45966623del - - FYCO1_000059 - PubMed: Patel 2017 - - Germline yes - - - - Johan den Dunnen
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