All variants in the FRYL gene

Information The variants shown are described using the NM_015030.1 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.328C>T r.(?) p.(Arg110Cys) ACMG likely pathogenic (dominant) g.48621374G>A g.48619357G>A - - FRYL_000021 ACMG likely pathogeni (PVS1, PS2, PM2) PubMed: Pan 2024, Journal: Pan 2024 - - De novo - - - - - Johan den Dunnen
+?/. - c.1129_1130del r.(?) p.(Val377AsnfsTer24) ACMG likely pathogenic (dominant) g.48597924_48597925del g.48595907_48595908del 1129_1130delGT - FRYL_000020 ACMG likely pathogenic (PVS1, PS2, PM2) PubMed: Pan 2024, Journal: Pan 2024 - - De novo - - - - - Johan den Dunnen
+?/. - c.1224del r.(?) p.(Lys409ArgfsTer15) ACMG likely pathogenic (dominant) g.48597631del g.48595614del - - FRYL_000019 ACMG likely pathogenic (PVS1, PS2, PM2) PubMed: Pan 2024, Journal: Pan 2024 - - De novo - - - - - Johan den Dunnen
+?/. - c.1855_1858del r.(?) p.(Val619IlefsTer7) ACMG likely pathogenic (dominant) g.48584645_48584648del g.48582628_48582631del - - FRYL_000018 ACMG likely pathogenic (PVS1, PS2, PM2) PubMed: Pan 2024, Journal: Pan 2024 - - De novo - - - - - Johan den Dunnen
+?/. - c.1987-1G>A r.spl p.? ACMG likely pathogenic (dominant) g.48583623C>T g.48581606C>T - - FRYL_000017 ACMG likely pathogenic (PVS1, PS2, PM2) PubMed: Pan 2024, Journal: Pan 2024 - - De novo - - - - - Johan den Dunnen
-?/. - c.1993G>A r.(?) p.(Val665Ile) - likely benign g.48583616C>T g.48581599C>T FRYL(NM_015030.1):c.1993G>A (p.V665I) - FRYL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2119G>A r.(?) p.(Val707Ile) - likely benign g.48583490C>T g.48581473C>T FRYL(NM_015030.1):c.2119G>A (p.(Val707Ile)) - FRYL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.2210_2211dup r.(?) p.(Ser738Ter) ACMG likely pathogenic (dominant) g.48582930_48582931dup g.48580913_48580914dup 2210_2211dupTA - FRYL_000016 ACMG likely pathogenic (PVS1, PS2, PM2) PubMed: Pan 2024, Journal: Pan 2024 - - De novo - - - - - Johan den Dunnen
+?/. - c.2996+5G>T r.spl? p.? - likely pathogenic g.48572839C>A - - - FRYL_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.3662G>T r.(?) p.(Arg1221Ile) - VUS g.48564940C>A - - - FRYL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.4093G>A r.(?) p.(Val1365Ile) - likely benign g.48559502C>T - FRYL(NM_015030.2):c.4093G>A (p.(Val1365Ile)) - FRYL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.4663C>T r.(?) p.(Arg1555Ter) ACMG likely pathogenic (dominant) g.48551611G>A g.48549594G>A - - FRYL_000015 ACMG likely pathogenic (PVS1, PS2, PM2) PubMed: Pan 2024, Journal: Pan 2024 - - De novo - - - - - Johan den Dunnen
+?/. - c.4724del r.(?) p.(Cys1575SerfsTer24) ACMG likely pathogenic (dominant) g.48551550del g.48549533del - - FRYL_000014 ACMG likely pathogenic (PVS1, PS2, PM2) PubMed: Pan 2024, Journal: Pan 2024 - - De novo - - - - - Johan den Dunnen
+?/. - c.4882T>C r.(?) p.(Phe1628Leu) ACMG likely pathogenic (dominant) g.48550713A>G g.48548696A>G - - FRYL_000013 ACMG likely pathogenic (PVS1, PS2, PM2) PubMed: Pan 2024, Journal: Pan 2024 - - De novo - - - - - Johan den Dunnen
?/. - c.4930C>T r.(?) p.(Arg1644Cys) - VUS g.48549745G>A - FRYL(NM_015030.2):c.4930C>T (p.(Arg1644Cys)) - FRYL_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.5474_5475del r.(?) p.(Tyr1825CysfsTer22) ACMG likely pathogenic (dominant) g.48545942_48545943del g.48543925_48543926del 5474_5475delAT - FRYL_000012 ACMG likely pathogenic (PVS1, PS2, PM2) PubMed: Pan 2024, Journal: Pan 2024 - - De novo - - - - - Johan den Dunnen
+?/. - c.6884T>C r.(?) p.(Phe2295Ser) ACMG likely pathogenic (dominant) g.48533192A>G g.48531175A>G - - FRYL_000011 ACMG likely pathogenic (PVS1, PS2, PM2) PubMed: Pan 2024, Journal: Pan 2024 - - De novo - - - - - Johan den Dunnen
-?/. - c.6903+10T>C r.(=) p.(=) - likely benign g.48533163A>G - FRYL(NM_015030.2):c.6903+10T>C - FRYL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.7019C>A r.(?) p.(Ser2340Tyr) - likely benign g.48530238G>T - FRYL(NM_015030.1):c.7019C>A (p.(Ser2340Tyr)) - FRYL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.7190G>T r.(?) p.(Ser2397Ile) ACMG VUS g.48529621C>A g.48527604C>A - - FRYL_000010 ACMG VUS (PP3) PubMed: Pan 2024, Journal: Pan 2024 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. - c.7750A>G r.(?) p.(Ile2584Val) - likely benign g.48517232T>C - FRYL(NM_015030.2):c.7750A>G (p.(Ile2584Val)) - FRYL_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.8079_8080del r.(?) p.(Gln2693HisfsTer4) ACMG likely pathogenic (dominant) g.48514564_48514565del g.48512547_48512548del - - FRYL_000009 ACMG likely pathogenic (PVS1, PS2, PM2) PubMed: Pan 2024, Journal: Pan 2024 - - De novo - - - - - Johan den Dunnen
-?/. - c.8301G>T r.(?) p.(Met2767Ile) - likely benign g.48512169C>A g.48510152C>A FRYL(NM_015030.1):c.8301G>T (p.(Met2767Ile)) - FRYL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.8407T>A r.(?) p.(Cys2803Ser) - VUS g.48507620A>T g.48505603A>T FRYL(NM_015030.1):c.8407T>A (p.C2803S) - FRYL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.8852A>G r.(?) p.(Tyr2951Cys) ACMG likely pathogenic (dominant) g.48501629T>C g.48499612T>C - - FRYL_000008 ACMG likely pathogenic (PVS1, PS2, PM2) PubMed: Pan 2024, Journal: Pan 2024 - - De novo - - - - - Johan den Dunnen
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