All variants in the FRMD7 gene

Information The variants shown are described using the NM_194277.2 transcript reference sequence.

106 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.1A>G r.? p.? ACMG VUS g.131261872T>C - - - FRMD7_000077 - - - - Germline/De novo (untested) - - - - - Jinu Han
+?/. - c.47T>C r.(?) p.(Phe16Ser) - likely pathogenic g.131261826A>G - FRMD7(NM_194277.2):c.47T>C (p.F16S) - FRMD7_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1i c.57+1G>A r.spl p.? - likely pathogenic g.131261815C>T g.132127787C>T - - FRMD7_000014 - - - - Germline - - - 0 - Andreas Laner
+/. 1i_12_ c.(57+1_58-1)_(*879_?)del r.? p.? - pathogenic (dominant) g.(?_131211021)_(131234745_131261815)del - (235+1_236-1)_(*3202_?)del - FRMD7_000016 - PubMed: Thomas 2017, Journal: Thomas 2017 - - Germline - - - 0 - Mervyn Thomas
-/. 2 c.69C>T r.(?) p.(=) - benign g.131234733G>A g.132100705G>A - - FRMD7_000005 - - - rs5930546 Germline - - - 0 - Andreas Laner
?/. - c.69C>T r.(=) p.(=) - VUS g.131234733G>A g.132100705G>A S23S - FRMD7_000005 recurrent, found 19 times PubMed: Tarpey 2009 - - Germline - 19/208 cases - 0 - Lucy Raymond
+?/. 2 c.70G>A r.(?) p.(Gly24Arg) ACMG pathogenic (!) g.131234732C>T - - - FRMD7_000062 ACMG: PS4_moderat, PM2, PP1, PM3 class 3 X-linked PMID: 18431453, 22490987, 17768376, 25678693 - - Germline ? - - - - Andreas Laner
+?/. - c.134del r.(?) p.(Leu45*) ACMG pathogenic g.131234669del g.132100641del - - FRMD7_000080 - - - - Germline/De novo (untested) - - - 0 - Jinu Han
-/. - c.163-442G>A r.(=) p.(=) - benign g.131233980C>T g.132099952C>T FRMD7(NM_194277.2):c.163-442G>A - FRMD7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.197A>G r.(?) p.(Gln66Arg) - likely pathogenic g.131233504T>C g.132099476T>C c.197T>C, p.(Gln66Arg) - FRMD7_000095 error in annotation: c.197T>C instead of A>G, hemizygous PubMed: Wang 2019 - - Germline yes - - 0 - LOVD
-?/. 3i c.206-59_206-58del r.(?) p.(=) - likely benign g.131231430_131231431del g.132097402_132097403del - - FRMD7_000013 - - - - Germline - - - 0 - Yu Sun
-?/. - c.210T>C r.(?) p.(Pro70=) - likely benign g.131231368A>G - FRMD7(NM_194277.2):c.210T>C (p.P70=) - FRMD7_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.218T>C r.(?) p.(Ile73Thr) - likely benign g.131231360A>G g.132097332A>G FRMD7(NM_194277.2):c.218T>C (p.(Ile73Thr)) - FRMD7_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.(235+1_236-1)_(*3202_?)del r.? p.? ACMG pathogenic g.(?_131211021)_(131234745_131261815)del - - - FRMD7_000016 - - - - Germline yes - - - - Mervyn Thomas
?/. - c.256C>T r.(?) p.(Pro86Ser) - VUS g.131231322G>A g.132097294G>A FRMD7(NM_194277.2):c.256C>T (p.P86S) - FRMD7_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.280A>C r.(?) p.(Thr94Pro) - VUS g.131231298T>G g.132097270T>G FRMD7(NM_194277.2):c.280A>C (p.(Thr94Pro)) - FRMD7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.284+6G>A r.(=) p.(=) - VUS g.131231288C>T g.132097260C>T FRMD7(NM_194277.2):c.284+6G>A (, p.(=)) - FRMD7_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.284+6G>A r.(=) p.(=) - likely benign g.131231288C>T - FRMD7(NM_194277.2):c.284+6G>A (, p.(=)) - FRMD7_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.284+63T>A r.(=) p.(=) ACMG VUS g.131231231A>T - - - FRMD7_000065 - - - - Germline/De novo (untested) - - - - - Jinu Han
+?/. - c.285-12A>G r.spl? p.? ACMG VUS g.131228179T>C - - - FRMD7_000068 - - - - Germline/De novo (untested) - - - 0 - Jinu Han
+?/. - c.347A>G r.(?) p.(Asn116Ser) ACMG VUS g.131228105T>C - - - FRMD7_000069 - - - - Germline/De novo (untested) - - - - - Jinu Han
+?/. - c.368C>A r.(?) p.(Ser123Tyr) ACMG VUS g.131228084G>T - - - FRMD7_000070 - - - - Germline/De novo (untested) - - - - - Jinu Han
+?/. - c.383-1368A>G r.spl? p.? ACMG VUS g.131221430T>C - - - FRMD7_000085 - - - - Germline/De novo (untested) - - - 0 - Jinu Han
-?/. 5i c.383-132G>A r.(?) p.(=) - likely benign g.131220194C>T g.132086166C>T - - FRMD7_000012 - - - - Germline - - - 0 - Yu Sun
-?/. 5i c.383-132G>A r.(?) p.(=) - likely benign g.131220194C>T g.132086166C>T - - FRMD7_000012 - - - - Germline - - - 0 - Yu Sun
-/. - c.383-132G>A r.(=) p.(=) - benign g.131220194C>T g.132086166C>T FRMD7(NM_194277.2):c.383-132G>A - FRMD7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.383-11C>T r.(=) p.(=) - benign g.131220073G>A g.132086045G>A - - FRMD7_000009 - - - rs56029310 Germline - - - 0 - Andreas Laner
+?/. - c.388C>T r.(?) p.(Leu130Phe) - VUS g.131220057G>A g.132086029G>A - - FRMD7_000040 variant not associated with cataract phenotype PubMed: Ansar 2018 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.388C>T r.(?) p.(Leu130Phe) - likely benign g.131220057G>A g.132086029G>A FRMD7(NM_194277.2):c.388C>T (p.L130F) - FRMD7_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.450C>A r.(?) p.(Asn150Lys) - VUS g.131219995G>T - FRMD7(NM_194277.2):c.450C>A (p.N150K) - FRMD7_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.506_535dup r.(?) p.(Leu178_Asp179insGlyProAlaGluSerAspIleLeuLeuLeu) ACMG VUS g.131219719_131219748dup g.132085691_132085720dup - - FRMD7_000071 - - - - Germline/De novo (untested) - - - 0 - Jinu Han
+?/. - c.536del r.(?) p.(Asp179Alafs*2) ACMG pathogenic g.131219718del g.132085690del - - FRMD7_000072 - - - - Germline/De novo (untested) - - - 0 - Jinu Han
?/. - c.567C>G r.(?) p.(Ile189Met) - VUS g.131219687G>C g.132085659G>C FRMD7(NM_194277.2):c.567C>G (p.I189M) - FRMD7_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.575A>C r.(?) p.(His192Pro) ACMG VUS g.131219679T>G - - - FRMD7_000073 - - - - Germline/De novo (untested) - - - - - Jinu Han
+/. - c.597del r.(?) p.(Met200Cysfs*32) - pathogenic g.131219659del g.132085631del - - FRMD7_000008 - - - - Germline - - - 0 - Andreas Laner
?/. - c.605T>G r.(?) p.(Ile202Ser) - VUS g.131219649A>C g.132085621A>C FRMD7(NM_194277.2):c.605T>G (p.I202S) - FRMD7_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.637G>A r.(?) p.(Val213Met) ACMG VUS g.131219617C>T - - - FRMD7_000074 - - - - Germline/De novo (untested) - - - - - Jinu Han
+?/. - c.685C>T r.(?) p.(Arg229Cys) ACMG VUS g.131218574G>A - - - FRMD7_000075 - - - - Germline/De novo (untested) - - - - - Jinu Han
?/. - c.698T>C r.(?) p.(Phe233Ser) - VUS g.131218561A>G g.132084533A>G - - FRMD7_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.722A>G r.(?) p.(Lys241Arg) ACMG VUS g.131218537T>C - - - FRMD7_000076 - - - - Germline/De novo (untested) - - - - - Jinu Han
+?/. - c.772A>G r.(?) p.(Met258Val) - likely pathogenic g.131216524T>C g.132082496T>C c.772A>G, p.(Met258Val) - FRMD7_000094 hemizygous PubMed: Wang 2019 - - Germline yes - - 0 - LOVD
+/. - c.781C>T r.(?) p.(Arg261*) - pathogenic g.131216515G>A - - - FRMD7_000060 - - - - Unknown - - - 0 - IMGAG
+?/. 9 c.796G>C r.(?) p.(Ala266Pro) - likely pathogenic (dominant) g.131216500C>G g.132082472C>G - - FRMD7_000015 - PubMed: Thomas 2017, Journal: Thomas 2017 - - Germline yes - - 0 - Mervyn Thomas
./. - c.824A>G r.(?) p.(His275Arg) - pathogenic g.131216472T>C g.132082444T>C - - FRMD7_000011 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
?/. - c.842C>T r.(?) p.(Ser281Leu) - VUS g.131216454G>A g.132082426G>A S281L - FRMD7_000039 recurrent, found 9 times PubMed: Tarpey 2009 - - Germline - 9/208 cases - 0 - Lucy Raymond
-?/. - c.842C>T r.(?) p.(Ser281Leu) - likely benign g.131216454G>A g.132082426G>A - - FRMD7_000039 55 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5977625 Germline - 55/2795 individuals - 0 - Mohammed Faruq
-?/. - c.842C>T r.(?) p.(Ser281Leu) - likely benign g.131216454G>A g.132082426G>A - - FRMD7_000039 29 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5977625 Germline - 29/2795 individuals - 0 - Mohammed Faruq
-?/. - c.843G>A r.(?) p.(Ser281=) - likely benign g.131216453C>T - FRMD7(NM_194277.2):c.843G>A (p.S281=) - FRMD7_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.844G>A r.(?) p.(Glu282Lys) - likely benign g.131216452C>T g.132082424C>T FRMD7(NM_194277.2):c.844G>A (p.E282K) - FRMD7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.875T>C r.(?) p.(Leu292Pro) ACMG VUS g.131216421A>G - - - FRMD7_000064 - - - - Germline/De novo (untested) - - - - - Jinu Han
+?/. - c.875T>C r.(?) p.(Leu292Pro) ACMG VUS g.131216421A>G - - - FRMD7_000064 - - - - Germline/De novo (untested) - - - - - Jinu Han
+?/. - c.886G>T r.(?) p.(Gly296Cys) ACMG VUS g.131216410C>A - - - FRMD7_000067 - - - - Germline/De novo (untested) - - - - - Jinu Han
?/. - c.892A>G r.(?) p.(Ser298Gly) - VUS g.131216404T>C g.132082376T>C FRMD7(NM_194277.2):c.892A>G (p.(Ser298Gly)) - FRMD7_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.898C>T r.(?) p.(Arg300Cys) - VUS g.131216398G>A g.132082370G>A FRMD7(NM_194277.2):c.898C>T (p.R300C, p.(Arg300Cys)) - FRMD7_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.898C>T r.(?) p.(Arg300Cys) - likely benign g.131216398G>A g.132082370G>A FRMD7(NM_194277.2):c.898C>T (p.R300C, p.(Arg300Cys)) - FRMD7_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.899G>A r.(?) p.(Arg300His) - VUS g.131216397C>T g.132082369C>T FRMD7(NM_194277.2):c.899G>A (p.R300H) - FRMD7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.901T>C r.(?) p.(Tyr301His) - likely pathogenic g.131216395A>G g.132082367A>G - - FRMD7_000063 - PubMed: Essilfie 2018 - - Germline - - - 0 - LOVD
+?/. - c.901T>C r.(?) p.(Tyr301His) ACMG VUS g.131216395A>G - - - FRMD7_000063 - - - - Germline/De novo (untested) - - - - - Jinu Han
+/. - c.910C>T r.(?) p.(Arg304Ter) - pathogenic g.131214290G>A g.132080262G>A FRMD7(NM_194277.2):c.910C>T (p.R304*) - FRMD7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.910C>T r.(?) p.(Arg304*) - likely pathogenic g.131214290G>A g.132080262G>A - - FRMD7_000025 - PubMed: Essilfie 2018 - - Germline - - - 0 - LOVD
+?/. - c.910C>T r.(?) p.(Arg304*) ACMG pathogenic g.131214290G>A - - - FRMD7_000025 - - - - Germline/De novo (untested) - - - - - Jinu Han
+?/. - c.974G>T r.(?) p.(Arg325Met) - likely pathogenic g.131214226C>A g.132080198C>A c.974C>A, p.(Arg325Met) - FRMD7_000093 error in annotation: c.974C>A instead of G>T, heterozygous PubMed: Wang 2019 - - Germline ? - - 0 - LOVD
+?/. - c.1016C>G r.(?) p.(Ser339Cys) ACMG VUS g.131214068G>C - - - FRMD7_000084 - - - - Germline/De novo (untested) - - - - - Jinu Han
+/. - c.1018del r.(?) p.(Ser340Hisfs*15) - pathogenic g.131214066del g.132080038del c.1018del, p.(Ser340Hisfs*15) - FRMD7_000091 hemizygous PubMed: Wang 2019 - - Germline yes - - 0 - LOVD
+?/. - c.1023_1030del r.(?) p.(Asp342Leufs*2) ACMG pathogenic g.131214056_131214063del g.132080028_132080035del 1023_1030delAGACCTCC - FRMD7_000083 - - - - Germline/De novo (untested) - - - 0 - Jinu Han
+?/. - c.1048C>T r.(?) p.(Gln350*) ACMG pathogenic g.131214036G>A - - - FRMD7_000082 - - - - Germline/De novo (untested) - - - - - Jinu Han
?/. - c.1101T>C r.(=) p.(=) - VUS g.131212944A>G g.132078916A>G N367N - FRMD7_000038 recurrent, found 16 times PubMed: Tarpey 2009 - - Germline - 16/208 cases - 0 - Lucy Raymond
-?/. - c.1217A>C r.(?) p.(His406Pro) - likely benign g.131212828T>G g.132078800T>G FRMD7(NM_194277.2):c.1217A>C (p.H406P) - FRMD7_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1258del r.(?) p.(Asp420Thrfs*24) ACMG pathogenic g.131212788del g.132078760del - - FRMD7_000081 - - - - Germline/De novo (untested) - - - 0 - Jinu Han
+/. 12 c.1262del r.(?) p.(Pro421Leufs*23) - pathogenic (dominant) g.131212785del g.132078757del - - FRMD7_000010 - PubMed: Thomas 2017, Journal: Thomas 2017 - - Germline yes - - 0 - Mervyn Thomas
+/. 12 c.1266_1269dup r.(?) p.(Asn424Leufs*2) ACMG pathogenic g.131212777_131212780dup g.132078749_132078752dup NM_194277.2:c.1266_1269dup, NP_919253.1:p.(Asn424LeufsTer2), NC_000023.10:g.131212777_131212780dup - FRMD7_000066 - PubMed: Wang 2018 - - Germline ? - - 0 - LOVD
-?/. - c.1363A>G r.(?) p.(Asn455Asp) - likely benign g.131212682T>C g.132078654T>C FRMD7(NM_194277.2):c.1363A>G (p.N455D) - FRMD7_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1374C>T r.(?) p.(Ser458=) - likely benign g.131212671G>A g.132078643G>A FRMD7(NM_194277.2):c.1374C>T (p.S458=) - FRMD7_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1375A>C r.(?) p.(Ile459Leu) - likely benign g.131212670T>G g.132078642T>G FRMD7(NM_194277.2):c.1375A>C (p.I459L) - FRMD7_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1387C>T r.(?) p.(Leu463Phe) - likely benign g.131212658G>A g.132078630G>A FRMD7(NM_194277.2):c.1387C>T (p.(Leu463Phe)) - FRMD7_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 12 c.1403G>A r.(?) p.(Arg468His) - benign g.131212642C>T g.132078614C>T - - FRMD7_000003 - - - rs6637934 Germline - - - 0 - Andreas Laner
?/. - c.1403G>A r.(?) p.(Arg468His) - VUS g.131212642C>T g.132078614C>T R468H - FRMD7_000003 recurrent, found 15 times PubMed: Tarpey 2009 - - Germline - 15/208 cases - 0 - Lucy Raymond
+?/. - c.1424dup r.(?) p.(Tyr475*) ACMG pathogenic g.131212621dup g.132078593dup - - FRMD7_000079 - - - - Germline/De novo (untested) - - - 0 - Jinu Han
-?/. - c.1468A>C r.(?) p.(Ile490Leu) - likely benign g.131212577T>G - FRMD7(NM_194277.2):c.1468A>C (p.I490L) - FRMD7_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1473G>T r.(?) p.(Met491Ile) - VUS g.131212572C>A g.132078544C>A FRMD7(NM_194277.2):c.1473G>T (p.M491I, p.(Met491Ile)) - FRMD7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1473G>T r.(?) p.(Met491Ile) - benign g.131212572C>A g.132078544C>A FRMD7(NM_194277.2):c.1473G>T (p.M491I, p.(Met491Ile)) - FRMD7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1474C>T r.(?) p.(Pro492Ser) - VUS g.131212571G>A g.132078543G>A P492S - FRMD7_000037 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.1474C>T r.(?) p.(Pro492Ser) - likely benign g.131212571G>A g.132078543G>A FRMD7(NM_194277.2):c.1474C>T (p.(Pro492Ser)) - FRMD7_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1505C>T r.(?) p.(Pro502Leu) - VUS g.131212540G>A g.132078512G>A FRMD7(NM_194277.2):c.1505C>T (p.P502L) - FRMD7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1527C>T r.(=) p.(=) - VUS g.131212518G>A g.132078490G>A S509S - FRMD7_000036 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.1530A>C r.(?) p.(Pro510=) - likely benign g.131212515T>G - FRMD7(NM_194277.2):c.1530A>C (p.P510=) - FRMD7_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1531A>G r.(?) p.(Ile511Val) - VUS g.131212514T>C g.132078486T>C FRMD7(NM_194277.2):c.1531A>G (p.I511V, p.(Ile511Val)) - FRMD7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1531A>G r.(?) p.(Ile511Val) - VUS g.131212514T>C - FRMD7(NM_194277.2):c.1531A>G (p.I511V, p.(Ile511Val)) - FRMD7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1533T>C r.(?) p.(Ile511=) - benign g.131212512A>G g.132078484A>G FRMD7(NM_194277.2):c.1533T>C (p.I511=) - FRMD7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1533T>C r.(=) p.(=) - VUS g.131212512A>G g.132078484A>G I511I - FRMD7_000022 recurrent, found 61 times PubMed: Tarpey 2009 - - Germline - 61/208 cases - 0 - Lucy Raymond
-?/. - c.1544A>C r.(?) p.(Glu515Ala) - likely benign g.131212501T>G g.132078473T>G FRMD7(NM_194277.2):c.1544A>C (p.(Glu515Ala)) - FRMD7_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1558C>G r.(?) p.(His520Asp) - likely benign g.131212487G>C g.132078459G>C FRMD7(NM_194277.2):c.1558C>G (p.H520D) - FRMD7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1617A>C r.(?) p.(Arg539Ser) - VUS g.131212428T>G g.132078400T>G FRMD7(NM_194277.2):c.1617A>C (p.(Arg539Ser)) - FRMD7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.1621_1622del r.(?) p.(Lys541Glufs*17) ACMG pathogenic g.131212423_131212424del g.132078395_132078396del - - FRMD7_000078 - - - - Germline/De novo (untested) - - - 0 - Jinu Han
+?/. - c.1630C>T r.(?) p.(Gln544Ter) - likely pathogenic g.131212415G>A g.132078387G>A - - FRMD7_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1643A>C r.(?) p.(Gln548Pro) - likely benign g.131212402T>G g.132078374T>G FRMD7(NM_194277.2):c.1643A>C (p.Q548P) - FRMD7_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1675G>A r.(?) p.(Gly559Ser) - likely benign g.131212370C>T - FRMD7(NM_194277.2):c.1675G>A (p.G559S) - FRMD7_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1712A>C r.(?) p.(Asp571Ala) - likely benign g.131212333T>G - FRMD7(NM_194277.2):c.1712A>C (p.D571A) - FRMD7_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1747C>G r.(?) p.(Gln583Glu) - likely benign g.131212298G>C - FRMD7(NM_194277.2):c.1747C>G (p.Q583E) - FRMD7_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1751A>G r.(?) p.(Glu584Gly) - likely benign g.131212294T>C g.132078266T>C FRMD7(NM_194277.2):c.1751A>G (p.E584G) - FRMD7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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