Full data view for gene FRMD7

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.1A>G r.? p.? Unknown ACMG VUS g.131261872T>C - - - FRMD7_000077 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 10019983 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.47T>C r.(?) p.(Phe16Ser) Unknown - likely pathogenic g.131261826A>G - FRMD7(NM_194277.3):c.47T>C (p.F16S) - FRMD7_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1i c.57+1G>A r.spl p.? Parent #1 - likely pathogenic g.131261815C>T g.132127787C>T - - FRMD7_000014 - - - - Germline - - - - - DNA SEQ - - NYS1 - - 2-generation family, affected male and heterozygous carrier mother M - Germany - - - - - 1 Andreas Laner
+/. - c.57+1G>A r.(?) p.? Parent #1 - likely pathogenic g.131261815C>T g.132127787C>T - - FRMD7_000014 - PubMed: Ehrenberg 2021 - - Germline - - - - - DNA SEQ - - ? FamPat25 PubMed: Ehrenberg 2021 family, 3 affected sibs M - Israel Jewish-Ashkenazi - - - - 3 Johan den Dunnen
+/. - c.57+1G>A r.(?) p.? Parent #1 - likely pathogenic g.131261815C>T g.132127787C>T - - FRMD7_000014 - PubMed: Ehrenberg 2021 - - Germline - - - - - DNA SEQ - - ? FamPat26 PubMed: Ehrenberg 2021 sib F - Israel Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.57+1G>A r.(?) p.? Parent #1 - likely pathogenic g.131261815C>T g.132127787C>T - - FRMD7_000014 - PubMed: Ehrenberg 2021 - - Germline - - - - - DNA SEQ - - ? FamPat27 PubMed: Ehrenberg 2021 sib M - Israel Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.(-9025_57+1750)_(*99024738_*99041008)inv r.? p.? Unknown - pathogenic (recessive) g.(32170892_32187162)_(131260066_131270897)inv - - ogm[GRCh37] inv(X) (p21.1q26.2) DMD_069071 99Mb pericentric inversion PubMed: Mai 2024 - - Germline/De novo (untested) - - - - - DNA OM - - DMD Pat1 PubMed: Mai 2024 2-generation family, 1 affected M - China - - - - - 1 Johan den Dunnen
+/. 1i_12_ c.(57+1_58-1)_(*879_?)del r.? p.? Maternal (confirmed) - pathogenic (dominant) g.(?_131211021)_(131234745_131261815)del - (235+1_236-1)_(*3202_?)del - FRMD7_000016 - PubMed: Thomas 2017, Journal: Thomas 2017 - - Germline - - - - - DNA SEQ-NG - - NYS1 NYS-007 PubMed: Thomas 2017, Journal: Thomas 2017 4-generation family, 5 affected (3F, 2M) F;M - United Kingdom (Great Britain) - - - - - 3 Mervyn Thomas
-/. 2 c.69C>T r.(?) p.(=) Parent #1 - benign g.131234733G>A g.132100705G>A - - FRMD7_000005 - - - rs5930546 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.69C>T r.(=) p.(=) Parent #1 - VUS g.131234733G>A g.132100705G>A S23S - FRMD7_000005 recurrent, found 19 times PubMed: Tarpey 2009 - - Germline - 19/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 19 Lucy Raymond
+?/. 2 c.70G>A r.(?) p.(Gly24Arg) Both (homozygous) ACMG pathogenic (!) g.131234732C>T - - - FRMD7_000062 ACMG: PS4_moderat, PM2, PP1, PM3 class 3 X-linked PMID: 18431453, 22490987, 17768376, 25678693 - - Germline ? - - - - DNA SEQ-NG-I - - NYS1 172087 - - M ? Germany - - - - - 1 Andreas Laner
+?/. - c.134del r.(?) p.(Leu45*) Unknown ACMG pathogenic g.131234669del g.132100641del - - FRMD7_000080 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 9295777 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
-/. - c.163-442G>A r.(=) p.(=) Unknown - benign g.131233980C>T g.132099952C>T FRMD7(NM_194277.3):c.163-442G>A - FRMD7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.197A>G r.(?) p.(Gln66Arg) Maternal (confirmed) - 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 - - - - DNA SEQ-NG blood panel of 126 genes NYS1 13219 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.205+1del r.spl? p.? Unknown - likely pathogenic g.131233495del - - - FRMD7_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3i c.206-59_206-58del r.(?) p.(=) Unknown - likely benign g.131231430_131231431del g.132097402_132097403del - - FRMD7_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.206-5T>A r.spl p.? Maternal (inferred) - pathogenic (recessive) g.131231377A>T g.132097349A>T - - FRMD7_000103 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam10282 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-?/. - c.210T>C r.(?) p.(Pro70=) Unknown - likely benign g.131231368A>G - FRMD7(NM_194277.2):c.210T>C (p.P70=) - FRMD7_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.218T>C r.(?) p.(Ile73Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(235+1_236-1)_(*3202_?)del r.? p.? Maternal (confirmed) ACMG pathogenic g.(?_131211021)_(131234745_131261815)del - - - FRMD7_000016 - - - - Germline yes - - - - DNA MLPA, PCR, SEQ-NG - - NYS1 F3:III-1 - - M - - - - - - - 2 Mervyn Thomas
?/. - c.256C>T r.(?) p.(Pro86Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.280A>C r.(?) p.(Thr94Pro) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.284+6G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.284+6G>A r.(=) p.(=) Unknown - likely benign g.131231288C>T - FRMD7(NM_194277.2):c.284+6G>A (p.(=)) - FRMD7_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.284+63T>A r.(=) p.(=) Unknown ACMG VUS g.131231231A>T - - - FRMD7_000065 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - retinal disease IR_GH_0173 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.285-12A>G r.spl? p.? Unknown ACMG VUS g.131228179T>C - - - FRMD7_000068 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 9327538 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. 4i_5i c.(284+1_285-1)_(382+1_383-1)del r.? p.? Unknown - pathogenic g.(131220063_131228069)_(131228168_131231293)del g.(132086035_132094041)_(132094140_132097265)del del ex5 - FRMD7_000105 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat37 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+?/. - c.347A>G r.(?) p.(Asn116Ser) Unknown ACMG VUS g.131228105T>C - - - FRMD7_000069 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 3088013 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.368C>A r.(?) p.(Ser123Tyr) Unknown ACMG VUS g.131228084G>T - - - FRMD7_000070 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 9125089 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.368C>A r.(?) p.(Ser123Tyr) Unknown - likely pathogenic g.131228084G>T g.132094056G>T - - FRMD7_000070 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat16 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+?/. - c.383-1368A>G r.spl? p.? Unknown ACMG VUS g.131221430T>C - - - FRMD7_000085 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 10050576 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
-?/. 5i c.383-132G>A r.(?) p.(=) Maternal (inferred) - likely benign g.131220194C>T g.132086166C>T - - FRMD7_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 5i c.383-132G>A r.(?) p.(=) Maternal (inferred) - likely benign g.131220194C>T g.132086166C>T - - FRMD7_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.383-132G>A r.(=) p.(=) Unknown - benign g.131220194C>T g.132086166C>T FRMD7(NM_194277.3):c.383-132G>A - FRMD7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.383-11C>T r.(=) p.(=) Parent #1 - benign g.131220073G>A g.132086045G>A - - FRMD7_000009 - - - rs56029310 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.383-1G>A r.spl p.? Maternal (inferred) - pathogenic (recessive) g.131220063C>T g.132086035C>T - - FRMD7_000102 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam46PatI PubMed: Jackson 2020 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.388C>T r.(?) p.(Leu130Phe) Both (homozygous) - VUS g.131220057G>A g.132086029G>A - - FRMD7_000040 variant not associated with cataract phenotype PubMed: Ansar 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT 30290152-FamF385 PubMed: Ansar 2018 5-generation family, 9 affected (5F, 4M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 9 Johan den Dunnen
-?/. - c.388C>T r.(?) p.(Leu130Phe) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.437G>A r.(?) p.(Arg146Gln) Unknown - likely benign g.131220008C>T - FRMD7(NM_194277.2):c.437G>A (p.(Arg146Gln)) - FRMD7_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.449A>G r.(?) p.(Asn150Ser) Unknown - likely benign g.131219996T>C - FRMD7(NM_194277.2):c.449A>G (p.N150S) - FRMD7_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.450C>A r.(?) p.(Asn150Lys) Unknown - VUS g.131219995G>T - FRMD7(NM_194277.2):c.450C>A (p.N150K) - FRMD7_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.483T>A r.(?) p.(Phe161Leu) Unknown - likely benign g.131219962A>T - FRMD7(NM_194277.2):c.483T>A (p.(Phe161Leu)) - FRMD7_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.497+18G>A r.(=) p.(=) Unknown - likely benign g.131219930C>T - FRMD7(NM_194277.3):c.497+18G>A - FRMD7_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.506_535dup r.(?) p.(Leu178_Asp179insGlyProAlaGluSerAspIleLeuLeuLeu) Unknown ACMG VUS g.131219719_131219748dup g.132085691_132085720dup - - FRMD7_000071 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 8224311 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.536del r.(?) p.(Asp179Alafs*2) Unknown ACMG pathogenic g.131219718del g.132085690del - - FRMD7_000072 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 9265908 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
?/. - c.567C>G r.(?) p.(Ile189Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.575A>C r.(?) p.(His192Pro) Unknown ACMG VUS g.131219679T>G - - - FRMD7_000073 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 6038593 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.575A>C r.(?) p.(His192Pro) Unknown - likely pathogenic g.131219679T>G g.132085651T>G - - FRMD7_000073 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat17 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.597del r.(?) p.(Met200Cysfs*32) Parent #1 - pathogenic g.131219659del g.132085631del - - FRMD7_000008 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.605T>G r.(?) p.(Ile202Ser) Unknown - VUS g.131219649A>C g.132085621A>C FRMD7(NM_194277.3):c.605T>G (p.I202S) - FRMD7_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.637G>A r.(?) p.(Val213Met) Unknown ACMG VUS g.131219617C>T - - - FRMD7_000074 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 7915474 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.637G>A r.(?) p.(Val213Met) Unknown - likely pathogenic g.131219617C>T g.132085589C>T - - FRMD7_000074 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat18 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.674G>A r.(?) p.(Trp225*) Unknown - pathogenic g.131218585C>T - FRMD7(NM_194277.3):c.674G>A (p.W225*) - FRMD7_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.685C>T r.(?) p.(Arg229Cys) Unknown ACMG VUS g.131218574G>A - - - FRMD7_000075 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 7364197 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.685C>T r.(?) p.(Arg229Cys) Unknown - pathogenic g.131218574G>A g.132084546G>A - - FRMD7_000075 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat19 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
?/. - c.698T>C r.(?) p.(Phe233Ser) Unknown - VUS g.131218561A>G g.132084533A>G - - FRMD7_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.722A>G r.(?) p.(Lys241Arg) Unknown ACMG VUS g.131218537T>C - - - FRMD7_000076 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 9046847 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.772A>G r.(?) p.(Met258Val) Maternal (confirmed) - likely pathogenic g.131216524T>C g.132082496T>C c.772A>G, p.(Met258Val) - FRMD7_000094 hemizygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes NYS1 14063 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.772A>G r.(?) p.(Met258Val) Unknown - likely pathogenic g.131216524T>C g.132082496T>C - - FRMD7_000094 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat20 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
?/. - c.778A>G r.(?) p.(Ser260Gly) Unknown - VUS g.131216518T>C - FRMD7(NM_194277.2):c.778A>G (p.S260G) - FRMD7_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.781C>T r.(?) p.(Arg261*) Unknown - pathogenic g.131216515G>A - - - FRMD7_000060 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. - c.781C>T r.(?) p.(Arg261Ter) Unknown ACMG pathogenic g.131216515G>A g.132082487G>A - - FRMD7_000060 ACMG PVS1_STRONG, PM2_MODERATE, PP5_SUPPORTING PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? NYS-19 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+?/. 9 c.796G>C r.(?) p.(Ala266Pro) Parent #1 - likely pathogenic (dominant) g.131216500C>G g.132082472C>G - - FRMD7_000015 - PubMed: Thomas 2017, Journal: Thomas 2017 - - Germline yes - - - - DNA SEQ-NG - - NYS1 NYS-001 PubMed: Thomas 2017, Journal: Thomas 2017 3-generation family, 2 affected F;M - United Kingdom (Great Britain) - - - - - 2 Mervyn Thomas
./. - c.824A>G r.(?) p.(His275Arg) Maternal (confirmed) - pathogenic g.131216472T>C g.132082444T>C - - FRMD7_000011 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.842C>T r.(?) p.(Ser281Leu) Parent #1 - VUS g.131216454G>A g.132082426G>A S281L - FRMD7_000039 recurrent, found 9 times PubMed: Tarpey 2009 - - Germline - 9/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 9 Lucy Raymond
-?/. - c.842C>T r.(?) p.(Ser281Leu) Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 55 Mohammed Faruq
-?/. - c.842C>T r.(?) p.(Ser281Leu) Unknown - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 29 Mohammed Faruq
-?/. - c.843G>A r.(?) p.(Ser281=) Unknown - likely benign g.131216453C>T - FRMD7(NM_194277.2):c.843G>A (p.S281=) - FRMD7_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.844G>A r.(?) p.(Glu282Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.875T>C r.(?) p.(Leu292Pro) Unknown ACMG VUS g.131216421A>G - - - FRMD7_000064 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - retinal disease IR_GH_0088 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.875T>C r.(?) p.(Leu292Pro) Unknown ACMG VUS g.131216421A>G - - - FRMD7_000064 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 9347161 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
?/. - c.875T>C r.(?) p.(Leu292Pro) Maternal (confirmed) - VUS g.131216421A>G - - - FRMD7_000064 - PubMed: Kuht 2020 - - Germline - - - - - DNA SEQ-NG Cheek cells - FVH2 F5:II-1 PubMed: Kuht 2020 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F no Korea - - - - - 2 Johan den Dunnen
?/. - c.875T>C r.(?) p.(Leu292Pro) Maternal (confirmed) - VUS g.131216421A>G - - - FRMD7_000064 - PubMed: Kuht 2020 - - Germline - - - - - DNA SEQ-NG Cheek cells - FVH2 F5:II-2 PubMed: Kuht 2020 brother M no Korea - - - - - 1 Johan den Dunnen
+/. - c.875T>C r.(?) p.(Leu292Pro) Maternal (inferred) - pathogenic (recessive) g.131216421A>G g.132082393A>G - - FRMD7_000064 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam26131 PubMed: Jackson 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.875T>C r.(?) p.(Leu292Pro) Unknown - pathogenic g.131216421A>G g.132082393A>G - - FRMD7_000064 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat21 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.875T>C r.(?) p.(Leu292Pro) Unknown - pathogenic g.131216421A>G g.132082393A>G - - FRMD7_000064 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat22 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.875T>C r.(?) p.(Leu292Pro) Unknown - pathogenic g.131216421A>G g.132082393A>G - - FRMD7_000064 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat23 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.875T>C r.(?) p.(Leu292Pro) Unknown - pathogenic g.131216421A>G g.132082393A>G - - FRMD7_000064 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat24 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.875T>C r.(?) p.(Leu292Pro) Unknown - pathogenic g.131216421A>G g.132082393A>G - - FRMD7_000064 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat25 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.875T>C r.(?) p.(Leu292Pro) Unknown - pathogenic g.131216421A>G g.132082393A>G - - FRMD7_000064 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat26 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.875T>C r.(?) p.(Leu292Pro) Unknown - pathogenic g.131216421A>G g.132082393A>G - - FRMD7_000064 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat27 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.875T>C r.(?) p.(Leu292Pro) Unknown - pathogenic g.131216421A>G g.132082393A>G - - FRMD7_000064 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat28 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.875T>C r.(?) p.(Leu292Pro) Unknown - pathogenic g.131216421A>G g.132082393A>G - - FRMD7_000064 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat29 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.875T>C r.(?) p.(Leu292Pro) Unknown - pathogenic g.131216421A>G g.132082393A>G - - FRMD7_000064 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat30 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.875T>C r.(?) p.(Leu292Pro) Unknown - pathogenic g.131216421A>G g.132082393A>G - - FRMD7_000064 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat31 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.875T>C r.(?) p.(Leu292Pro) Unknown - pathogenic g.131216421A>G g.132082393A>G - - FRMD7_000064 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat32 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+?/. - c.886G>T r.(?) p.(Gly296Cys) Unknown ACMG VUS g.131216410C>A - - - FRMD7_000067 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 8605973 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.886G>T r.(?) p.(Gly296Cys) Unknown - likely pathogenic g.131216410C>A g.132082382C>A - - FRMD7_000067 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat33 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
?/. - c.892A>G r.(?) p.(Ser298Gly) Unknown - VUS g.131216404T>C g.132082376T>C FRMD7(NM_194277.2):c.892A>G (p.S298G, p.(Ser298Gly)) - FRMD7_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.892A>G r.(?) p.(Ser298Gly) Unknown - VUS g.131216404T>C - FRMD7(NM_194277.2):c.892A>G (p.S298G, p.(Ser298Gly)) - FRMD7_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.898C>T r.(?) p.(Arg300Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.898C>T r.(?) p.(Arg300Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.899G>A r.(?) p.(Arg300His) Unknown - VUS g.131216397C>T g.132082369C>T FRMD7(NM_194277.2):c.899G>A (p.R300H), FRMD7(NM_194277.3):c.899G>A (p.R300H) - FRMD7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.899G>A r.(?) p.(Arg300His) Unknown - VUS g.131216397C>T - FRMD7(NM_194277.2):c.899G>A (p.R300H), FRMD7(NM_194277.3):c.899G>A (p.R300H) - FRMD7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.901T>C r.(?) p.(Tyr301His) Parent #1 - likely pathogenic g.131216395A>G g.132082367A>G - - FRMD7_000063 - PubMed: Rim 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat26 PubMed: Rim 2017 - F - Korea - - - - - 1 LOVD
+?/. - c.901T>C r.(?) p.(Tyr301His) Unknown ACMG VUS g.131216395A>G - - - FRMD7_000063 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 7788128 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.901T>C r.(?) p.(Tyr301His) Unknown - likely pathogenic g.131216395A>G g.132082367A>G - - FRMD7_000063 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat34 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.910C>T r.(?) p.(Arg304Ter) Unknown - pathogenic g.131214290G>A g.132080262G>A FRMD7(NM_194277.2):c.910C>T (p.R304*), FRMD7(NM_194277.3):c.910C>T (p.R304*) - FRMD7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.910C>T r.(?) p.(Arg304*) Maternal (inferred) - likely pathogenic g.131214290G>A g.132080262G>A - - FRMD7_000025 - PubMed: Rim 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat27 PubMed: Rim 2017 - M - Korea - - - - - 1 LOVD
+?/. - c.910C>T r.(?) p.(Arg304*) Unknown ACMG pathogenic g.131214290G>A - - - FRMD7_000025 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 9205558 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
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