Full data view for gene FERMT1

Information The variants shown are described using the NM_017671.4 transcript reference sequence.

266 entries on 3 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     
+/. 13i_15_ c.1719-998_*2328{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.6052985_6061222del g.6072338_6080575del g.80929_89169del - FERMT1_000021 - PubMed: Has 2008 - - Germline - - - - - DNA PCR, SEQ - - KNDLRS Pat1 PubMed: Has 2008 family, 2 affected sibs M no Bulgaria - - - - - 2 Johan den Dunnen
+/. 13i_15_ c.1719-998_*2328{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.6052985_6061222del g.6072338_6080575del g.80929_89169del - FERMT1_000021 - PubMed: Has 2008 - - Germline - - - - - DNA SEQ - - KNDLRS Pat2 PubMed: Has 2008 sib F no Bulgaria - - - - - 1 Johan den Dunnen
+/. 13i_15_ c.1719-998_*2328{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.6052985_6061222del g.6072338_6080575del g.80929_89169del - FERMT1_000021 - PubMed: Has 2008 - - Germline - - - - - DNA SEQ - - KNDLRS Pat3 PubMed: Has 2008 - F no Bulgaria - - - - - 1 Johan den Dunnen
+/. ? c.-20A>G r.0? p.0? Paternal (confirmed) - pathogenic (recessive) g.6103422T>C g.6122775T>C - - FERMT1_000070 severly reduced mRNA expression PubMed: Has 2015 - - Germline - - - - - DNA SEQ - - KNDLRS Pat3 PubMed: Has 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - 1 LOVD
+/+ _1_1i c.-789_-19+470{0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.6102951_6104896del g.6122304_6124249del g.‐711–1241del - FERMT1_000068 - PubMed: Fuchs-Telem 2014 - - Germline - - - - - DNA SEQ - - KNDLRS Fam2 PubMed: Fuchs-Telem 2014 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Israel Druze - - - - 4 LOVD
+/+ _1_1i c.-789_-19+470{0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.6102951_6104896del g.6122304_6124249del -711_1241del - FERMT1_000068 - PubMed: Has 2015 - - Germline - - - - - DNA SEQ - - KNDLRS Pat2 PubMed: Has 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - 1 LOVD
+/+ _1_6i c.-789_850-4540{0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.6082818_6121040delinsCAAACTGA g.6121524_6159746delinsCAAACTGA hg38 6102171_6140393delinsCAAACTGA - FERMT1_000069 - PubMed: Has 2015 - - Germline - - - - - DNA SEQ - - KNDLRS Pat1 PubMed: Has 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes India - - - - - 2 LOVD
+/. 13i_15_ c.1719-998_*2328{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.6052985_6061222del g.6072338_6080575del g.80929_89169del - FERMT1_000088 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat41 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/. 13i_15_ c.1719-998_*2328{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.6052985_6061222del g.6072338_6080575del g.80929_89169del - FERMT1_000021 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat47 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/. 13i_15_ c.1719-998_*2328{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.6052985_6061222del g.6072338_6080575del g.80929_89169del - FERMT1_000021 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat55 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/+ 2 c.21_22del r.(?) p.(Thr8Ilefs*11) Both (homozygous) - pathogenic (recessive) g.6100180_6100181del g.6119533_6119534del - - FERMT1_000050 - PubMed: Sadler 2006 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Sadler 2006 - F - Turkey - - - - - 1 LOVD
+/+ 2 c.36G>A r.(?) p.(Trp12*) Parent #1 - pathogenic (recessive) g.6100166C>T g.6119519C>T - - FERMT1_000037 - PubMed: Techanukul 2011 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Techanukul 2011 - M - India - - - - - 1 LOVD
+/+ 2 c.96_97del r.(?) p.(Arg32Serfs*63) Both (homozygous) - pathogenic (recessive) g.6100108_6100109del g.6119461_6119462del - - FERMT1_000006 - PubMed: Has 2006 - - Germline - - - - - DNA ? - - KNDLRS Pat6 PubMed: Has 2006 - F - Italy Sardinia - - - - 1 LOVD
+/. - c.96_97del r.(?) p.(Arg32Serfs*63) Both (homozygous) - pathogenic (recessive) g.6100108_6100109del g.6119461_6119462del - - FERMT1_000006 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat54 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+?/? 2 c.137_140del r.(?) p.(Leu46*) Both (homozygous) - likely pathogenic g.6100065_6100068del g.6119418_6119421del 137–140delTAGT - FERMT1_000067 - PubMed: Fuchs-Telem 2014 - - Germline - - - - - DNA SEQ - - KNDLRS Fam1 PubMed: Fuchs-Telem 2014 4-generation family, 6 affected (F, 5M), unaffected heterozygous carrier parents/relatives F;M yes Israel Arab Moslem - - - - 6 LOVD
+/+ 2 c.145C>T r.(?) p.(Gln49*) Parent #2 - pathogenic (recessive) g.6100057G>A g.6119410G>A - - FERMT1_000040 {PMID:Techanukul 2011:21336475} - - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Techanukul 2011 - F - Australia - - - - - 1 LOVD
+/+ 2i c.152-2delinsCT r.spl p.? Both (homozygous) - pathogenic g.6096693delinsAG g.6116046delinsAG - - FERMT1_000033 - - - - Germline - - - - - DNA ? - - KNDLRS - - - F - Italy - - - - - 1 LOVD
+/. - c.152-2delinsCT r.spl p.? Both (homozygous) - pathogenic (recessive) g.? - 152-2delAGinsCT - DNMT3B_000000 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat52 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/+ 3 c.170C>A r.(?) p.(Ser57*) Both (homozygous) - pathogenic (recessive) g.6096673G>T g.6116026G>T - - FERMT1_000005 - PubMed: Mansur 2007 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Mansur 2007 - M - Turkey - - - - - 1 LOVD
+/+ 3 c.170C>A r.(?) p.(Ser57*) Both (homozygous) - pathogenic g.6096673G>T g.6116026G>T - - FERMT1_000005 - - - - Germline - - - - - DNA SEQ - - KNDLRS - - - M ? Turkey - - - - - 1 LOVD
+/. - c.170C>A r.(?) p.(Ser57*) Both (homozygous) - pathogenic (recessive) g.6096673G>T g.6116026G>T - - FERMT1_000005 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat35 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/+ 3 c.193C>T r.(?) p.(Gln65*) Both (homozygous) - pathogenic (recessive) g.6096650G>A g.6116003G>A - - FERMT1_000019 - PubMed: Siegel 2003 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Siegel 2003 - - - Jordan - - - - - 1 LOVD
+/+ 3 c.193C>T r.(?) p.(Gln65*) Both (homozygous) - pathogenic g.6096650G>A g.6116003G>A - - FERMT1_000019 - PubMed: Siegel 2003 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Siegel 2003 - - - Jordan - - - - - 1 LOVD
?/. - c.293G>A r.(?) p.(Arg98His) Unknown - VUS g.6096550C>T - FERMT1(NM_017671.4):c.293G>A (p.R98H) - FERMT1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.293G>A r.(?) p.(Arg98His) Unknown - likely benign g.6096550C>T - - - FERMT1_000090 - PubMed: AlAsiri 2015 - rs137862671 Germline yes - - - - DNA SEQ, SEQ-NG - WES POF family PubMed: AlAsiri 2015 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes Saudi Arabia - - - - - 3 Johan den Dunnen
+/+ 3 c.299_301del r.(?) p.(Arg100del) Both (homozygous) - pathogenic (recessive) g.6096544_6096546del g.6115897_6115899del - - FERMT1_000032 - PubMed: Has 2011 - - Germline - - - - - DNA ? - - KNDLRS Pat51 PubMed: Has 2011 - M - France - - - - - 1 LOVD
-?/. - c.306G>A r.(?) p.(=) Unknown - likely benign g.6096537C>T - FERMT1(NM_017671.5):c.306G>A (p.P102=) - FERMT1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? - c.328C>T r.(?) p.(Arg110*) Parent #1 - pathogenic (recessive) g.6096515G>A - Arg110X - FERMT1_000004 - PubMed: de Almeida 2013 - - Germline - - - - - DNA PCRm - - KNDLRS patient PubMed: de Almeida 2013 - F no Brazil mulato - - - - 1 Hiram de Almeida
+/+ 3 c.328C>T r.(?) p.(Arg110*) Both (homozygous) - pathogenic g.6096515G>A g.6115868G>A - - FERMT1_000004 - PubMed: Has 2009 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Has 2009 - M - Switzerland - - - - - 1 LOVD
+/+ 3 c.328C>T r.(?) p.(Arg110*) Both (homozygous) - pathogenic g.6096515G>A g.6115868G>A - - FERMT1_000004 - PubMed: Has 2009 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Has 2009 - M - - - - - - - 1 LOVD
+/+ 3 c.328C>T r.(?) p.(Arg110*) Both (homozygous) - pathogenic g.6096515G>A g.6115868G>A - - FERMT1_000004 - - - - Germline - - - - - DNA ? - - KNDLRS - Has ., Dermatology, 2010 - F - Switzerland - - - - - 1 LOVD
+/? 3 c.328C>T r.(?) p.(Arg110*) Both (homozygous) - pathogenic g.6096515G>A g.6115868G>A - - FERMT1_000004 - PubMed: Lai-Cheong 2009 PubMed: Emanuel 2006 - - Germline - - - - - DNA SEQ - - KNDLRS - PubMed: Lai-Cheong 2009 PubMed: Emanuel 2006 - M - United States Hispanic - - - - 1 LOVD
+/? 3 c.328C>T r.(?) p.(Arg110*) Both (homozygous) - pathogenic (recessive) g.6096515G>A g.6115868G>A - - FERMT1_000004 - Journal: Youssefian 2015,PubMed: Youssefian 2015 - - Germline - - - - - DNA SEQ - - KNDLRS Fam7 Journal: Youssefian 2015, PubMed: Youssefian 2015 4-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives M yes Iran - - - - - 3 Leila Youssefian
+/+ 3 c.328C>T r.(?) p.(Arg110*) Unknown - pathogenic (recessive) g.6096515G>A g.6115868G>A - - FERMT1_000004 - PubMed: Almeida 2013 - - Germline - - - - - DNA SEQ - - KNDLRS - PubMed: Almeida 2013 - F - Brazil - - - - - 1 LOVD
+/. - c.328C>T r.(?) p.(Arg110*) Both (homozygous) - pathogenic (recessive) g.6096515G>A g.6115868G>A - - FERMT1_000004 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat9 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.328C>T r.(?) p.(Arg110*) Both (homozygous) - pathogenic (recessive) g.6096515G>A g.6115868G>A - - FERMT1_000004 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat58 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.328C>T r.(?) p.(Arg110*) Both (homozygous) - pathogenic (recessive) g.6096515G>A g.6115868G>A - - FERMT1_000004 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat59 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/+ 3 c.341C>G r.(?) p.(Ser114*) Both (homozygous) - pathogenic g.6096502G>C g.6115855G>C - - FERMT1_000036 - - - - Germline - - - - - DNA ? - - KNDLRS - - - F - Belgium - - - - - 1 LOVD
+/+ 3 c.341C>G r.(?) p.(Ser114*) Both (homozygous) - pathogenic (recessive) g.6096502G>C g.6115855G>C - - FERMT1_000036 - PubMed: Lai-Cheong 2007 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Lai-Cheong 2007 - F - India - - - - - 1 LOVD
+/. - c.341C>G r.(?) p.(Ser114*) Both (homozygous) - pathogenic (recessive) g.6096502G>C g.6115855G>C - - FERMT1_000036 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat62 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/+ 3 c.373del r.(?) p.(Cys125Alafs*4) Both (homozygous) - pathogenic (recessive) g.6096470del g.6115823del 373delT - FERMT1_000017 - PubMed: Has 2006 - - Germline - - - - - DNA ? - - KNDLRS Pat9 PubMed: Has 2006 - M - Italy - - - - - 1 LOVD
+/+ 3 c.373del r.(?) p.(Cys125Alafs*4) Both (homozygous) - pathogenic (recessive) g.6096470del g.6115823del - - FERMT1_000017 - PubMed: Siegel 2003 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Siegel 2003 - - - Italy - - - - - 1 LOVD
+/. - c.373del r.(?) p.(Cys125Alafs*4) Both (homozygous) - pathogenic (recessive) g.6096470del g.6115823del - - FERMT1_000017 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat49 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/+ 3 c.384_385+2del r.spl p.(Leu128Ilefs*11) Parent #2 - pathogenic (recessive) g.6096457_6096460del g.6115810_6115813del - - FERMT1_000041 - PubMed: Techanukul 2011 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Techanukul 2011 - F - India - - - - - 1 LOVD
+/+ 3i c.385+2T>C r.spl p.? Both (homozygous) - pathogenic g.6096456A>G g.6115809A>G - - FERMT1_000011 - - - - Germline - - - - - DNA ? - - KNDLRS - - - F - Germany - - - - - 1 LOVD
+/+ 3i c.385+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.6096456A>G g.6115809A>G - - FERMT1_000011 - PubMed: Jobard 2003 - - Germline - - - - - DNA ? - - KNDLRS FamAPat9 PubMed: Jobard 2003 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F - Algeria - - - - - 3 LOVD
+/+ 3i c.385+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.6096456A>G g.6115809A>G - - FERMT1_000011 - PubMed: Jobard 2003 - - Germline - - - - - DNA ? - - KNDLRS FamAPat5 PubMed: Jobard 2003 older brother M - Algeria - - - - - 1 LOVD
+/. 3i c.385+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.6096456A>G g.6115809A>G - - FERMT1_000011 - PubMed: Jobard 2003 - - Germline - - - - - DNA ? - - KNDLRS FamAPat4 PubMed: Jobard 2003 older sister F - Algeria - - - - - 1 LOVD
+/. - c.385+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.6096456A>G g.6115809A>G - - FERMT1_000011 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat1 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.385+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.6096456A>G g.6115809A>G - - FERMT1_000011 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat2 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.385+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.6096456A>G g.6115809A>G - - FERMT1_000011 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat21 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.385+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.6096456A>G g.6115809A>G - - FERMT1_000011 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat26 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/+ 4 c.456dup r.(?) p.(Asp153Argfs*4) Both (homozygous) - pathogenic (recessive) g.6093205dup g.6112558dup - - FERMT1_000003 - PubMed: Has 2009 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Has 2009 - M yes Germany - - - - - 1 LOVD
+/. - c.456dup r.(?) p.(Asp153Argfs*4) Both (homozygous) - pathogenic (recessive) g.6093205dup g.6112558dup 456dupA - FERMT1_000003 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat39 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.464del r.(?) p.(Asn155Ilefs*6) Both (homozygous) - pathogenic (recessive) g.6093196del g.6112549del 464delA - FERMT1_000023 - PubMed: Jobard 2003 - - Germline - - - - - DNA ? - - KNDLRS FamEPat3 PubMed: Jobard 2003 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - Algeria - - - - - 2 LOVD
+/. 4 c.464del r.(?) p.(Asn155Ilefs*6) Both (homozygous) - pathogenic (recessive) g.6093196del g.6112549del 464delA - FERMT1_000023 - PubMed: Jobard 2003 - - Germline - - - - - DNA ? - - KNDLRS FamEPat2 PubMed: Jobard 2003 older brother M - Algeria - - - - - 1 LOVD
+/. - c.464del r.(?) p.(Asn155Ilefs*6) Both (homozygous) - pathogenic (recessive) g.6093196del g.6112549del - - FERMT1_000023 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat6 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.464del r.(?) p.(Asn155Ilefs*6) Both (homozygous) - pathogenic (recessive) g.6093196del g.6112549del - - FERMT1_000023 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat12 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/+ 4 c.502G>T r.(?) p.(Glu168*) Both (homozygous) - pathogenic (recessive) g.6093154C>A g.6112507C>A - - FERMT1_000044 - PubMed: Lai-Cheong 2007 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Lai-Cheong 2007 - M - India - - - - - 1 LOVD
+/+ 4 c.502G>T r.(?) p.(Glu168*) Both (homozygous) - pathogenic (recessive) g.6093154C>A g.6112507C>A - - FERMT1_000044 - PubMed: Lai-Cheong 2007 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Lai-Cheong 2007 - F - India - - - - - 1 LOVD
+/. 4i_5i c.532+205_746+691del r.? p.(Ser179Glyfs*2) Both (homozygous) - pathogenic (recessive) g.6090254_6092919del g.6109607_6112272del 6109607_6112272del - FERMT1_000066 - Journal: Youssefian 2015,PubMed: Youssefian 2015 - - Germline - - - - - DNA SEQ - - KNDLRS Fam11 Journal: Youssefian 2015, PubMed: Youssefian 2015 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Iran - - - - - 1 Leila Youssefian
+/. 5 c.550dup r.(?) p.(Ser184Lysfs*2) Both (homozygous) - pathogenic (recessive) g.6091141dup g.6110494dup 550_551insA - FERMT1_000059 - Journal: Youssefian 2015, PubMed: Youssefian 2015 - - Germline - - - - - DNA SEQ - - KNDLRS Fam1 Journal: Youssefian 2015, PubMed: Youssefian 2015 6-generation family, 9 affected (3F, 6M), unaffected heterozygous carrier parents/relatives F yes Iran - - - - - 9 Leila Youssefian
+/+ 5 c.614G>A r.(?) p.(Trp205*) Both (homozygous) - pathogenic (recessive) g.6091077C>T g.6110430C>T - - FERMT1_000020 - PubMed: Siegel 2003 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Siegel 2003 - - - Pakistan - - - - - 1 LOVD
+/. 5 c.614G>A r.(?) p.(Trp205*) Both (homozygous) - pathogenic (recessive) g.6091077C>T g.6110430C>T - - FERMT1_000020 - Journal: Youssefian 2015, PubMed: Youssefian 2015 - - Germline - - - - - DNA SEQ - - KNDLRS Fam4 Journal: Youssefian 2015, PubMed: Youssefian 2015 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F yes Iran - - - - - 3 Leila Youssefian
?/. - c.637G>A r.(?) p.(Glu213Lys) Unknown - VUS g.6091054C>T - - - FERMT1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.676del r.(?) p.(Gln226Serfs*26) Parent #2 - pathogenic (recessive) g.6091015del g.6110368del 676delC - FERMT1_000086 - PubMed: Chmel 2015 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - KNDLRS Pat1 PubMed: Chmel 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Germany Slavic - - - - 1 Johan den Dunnen
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic g.6091021dup g.6110374dup - - FERMT1_000001 - - - - Germline - - - - - DNA ? - - KNDLRS - - - F - Turkey - - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic g.6091021dup g.6110374dup - - FERMT1_000001 - - - - Germline - - - - - DNA ? - - KNDLRS - - - F - Albania - - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic (recessive) g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Kern 2007 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Kern 2007 - F - Albania - - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic (recessive) g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Mansur 2007 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Mansur 2007 - F - Albania - 24y - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Parent #1 - pathogenic (recessive) g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Techanukul 2011 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Techanukul 2011 - F - Australia - - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic (recessive) g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Techanukul 2011 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Techanukul 2011 - M - India - - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic (recessive) g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Techanukul 2011 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Techanukul 2011 - M - Yugoslavia Serbian - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic (recessive) g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Techanukul 2011 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Techanukul 2011 - M - Yugoslavia Serbian - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic (recessive) g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Martignago 2007 - - Germline - - - - - DNA SEQ - - KNDLRS - PubMed: Martignago 2007 - M - Brazil Italian ? - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic (recessive) g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Martignago 2007 - - Germline - - - - - DNA SEQ - - KNDLRS - PubMed: Martignago 2007 - F - Brazil Italian - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic (recessive) g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Martignago 2007 - - Germline - - - - - DNA SEQ - - KNDLRS - PubMed: Martignago 2007 - F - Brazil Italian - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic (recessive) g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Martignago 2007 - - Germline - - - - - DNA SEQ - - KNDLRS - PubMed: Martignago 2007 - M - Brazil Italian - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic (recessive) g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Martignago 2007 - - Germline - - - - - DNA SEQ - - KNDLRS - PubMed: Martignago 2007 - M - Brazil Italian - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic (recessive) g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Martignago 2007 - - Germline - - - - - DNA SEQ - - KNDLRS - PubMed: Martignago 2007 - M - Brazil Italian - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic (recessive) g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Martignago 2007 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Martignago 2007 - F - Brazil Italian ? - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic (recessive) g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Martignago 2007 - - Germline - - - - - DNA SEQ - - KNDLRS - PubMed: Martignago 2007 - F - Brazil Italian - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Maternal (confirmed) - pathogenic g.6091021dup g.6110374dup - - FERMT1_000001 - - - - Germline - - - - - DNA SEQ - - KNDLRS - - - M - - - - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Lai-Cheong et al 2012 - - Germline - - - - - DNA SEQ - - KNDLRS - - - M yes United Kingdom (Great Britain) - - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Shaiq et al 2012 - - Germline - - - - - DNA SEQ - - KNDLRS - - - F - Pakistan - - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Shaiq et al 2012 - - Germline - - - - - DNA SEQ - - KNDLRS - - - M - Pakistan - - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Shaiq et al 2012 - - Germline - - - - - DNA SEQ - - KNDLRS - - - F - Pakistan - - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Shaiq et al 2012 - - Germline - - - - - DNA SEQ - - KNDLRS - - - M - Pakistan - - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Shaiq et al 2012 - - Germline - - - - - DNA SEQ - - KNDLRS - - - F yes Pakistan - - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Shaiq et al 2012 - - Germline - - - - - DNA SEQ - - KNDLRS - - - F yes Pakistan - - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic g.6091021dup g.6110374dup - - FERMT1_000001 - PubMed: Shaiq et al 2012 - - Germline - - - - - DNA SEQ - - KNDLRS - - - M yes Pakistan - - - - - 1 LOVD
+/+ 5 c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic g.6091021dup g.6110374dup - - FERMT1_000001 - - - - Germline - - - - - DNA SEQ - - KNDLRS - - - F ? Romania - - - - - 1 LOVD
+/. - c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic (recessive) g.6091021dup g.6110374dup 676dupC - FERMT1_000001 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat10 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.676dup r.(?) p.(Gln226Profs*17) Both (homozygous) - pathogenic (recessive) g.6091021dup g.6110374dup 676dupC - FERMT1_000001 - PubMed: Has 2011, Journal: Has 2011 - - Germline - - - - - DNA SEQ - - KNDLRS Pat27 PubMed: Has 2011, Journal: Has 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.676dup r.(?) p.(Gln226ProfsTer17) Both (homozygous) ACMG pathogenic (recessive) g.6091021dup g.6110374dup c.676dupC - FERMT1_000001 ACMG PVS1, PM2, PP4, PP5 PubMed: Marinakis 2021 - rs748240859 Germline - - - - - DNA SEQ, SEQ-NG - clinical exome sequencing ? 8045 PubMed: Marinakis 2021 - M - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.676dup r.(?) p.(Gln226ProfsTer17) Both (homozygous) ACMG pathogenic (recessive) g.6091021dup g.6110374dup c.676dupC - FERMT1_000001 ACMG PVS1, PM1, PM2, PP5 PubMed: Marinakis 2021 - rs748240859 Germline - - - - - DNA SEQ, SEQ-NG - WES ? 9073 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.677dup r.(?) p.(Ser227ValfsTer16) Unknown - pathogenic g.6091014dup g.6110367dup FERMT1(NM_017671.5):c.677dupA (p.S227Vfs*16) - FERMT1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.712C>G r.(?) p.(Arg238Gly) Unknown - VUS g.6090979G>C - FERMT1(NM_017671.5):c.712C>G (p.R238G) - FERMT1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.750G>A r.(?) p.(Trp250*) Both (homozygous) - pathogenic (recessive) g.6088278C>T g.6107631C>T - - FERMT1_000039 - PubMed: Techanukul 2011 - - Germline - - - - - DNA ? - - KNDLRS - PubMed: Techanukul 2011 - F - Israel Jewish;Kurdistan 42y - - - 3 LOVD
+/+ 6 c.787C>T r.(?) p.(Gln263*) Both (homozygous) - pathogenic (recessive) g.6088241G>A g.6107594G>A - - FERMT1_000028 - PubMed: Jobard 2003 - - Germline yes - - - - DNA ? - - KNDLRS FamCPat4 PubMed: Jobard 2003 sister F - Senegal - - - - - 1 LOVD
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