Full data view for gene ROGDI

Information The variants shown are described using the NM_024589.1 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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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.29C>T r.(?) p.(Ala10Val) Unknown - VUS g.4852544G>A g.4802543G>A ROGDI(NM_024589.3):c.29C>T (p.A10V) - ROGDI_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.35G>C r.(?) p.(Arg12Pro) Unknown - VUS g.4852538C>G g.4802537C>G ROGDI(NM_024589.2):c.35G>C (p.R12P) - GLYR1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i c.45+9_45+20del r.spl p.Glu16Valfs Maternal (confirmed) - pathogenic (recessive) g.4852511_4852522del g.4802510_4802521del - - ROGDI_000008 - PubMed: Tucci et al. 2012 - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - KTZS - PubMed: Tucci 2012, PubMed: Schossig 2012 two healthy siblings M no Germany - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 1i c.45+9_45+20del r.spl p.Glu16Valfs Both (homozygous) - pathogenic (recessive) g.4852511_4852522del g.4802510_4802521del - - ROGDI_000008 - PubMed: Tucci et al. 2012 - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - KTZS - PubMed: Tucci 2012, PubMed: Petermöller 1993 one affected sibling (Tucci Fam D-II:2), one unaffected sibling M no Germany - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 1i c.45+9_45+20del r.spl p.Glu16Valfs Both (homozygous) - pathogenic (recessive) g.4852511_4852522del g.4802510_4802521del - - ROGDI_000008 - PubMed: Tucci et al. 2012 - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - KTZS - PubMed: Tucci 2012, PubMed: Petermöller 1993 one affected sibling (Tucci Fam D-II:1), one unaffected sibling F no Germany - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 1i c.45+9_45+20del r.spl p.Glu16Valfs Maternal (inferred) - pathogenic (recessive) g.4852511_4852522del g.4802510_4802521del - - ROGDI_000008 - PubMed: Tucci et al. 2012 - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - KTZS - PubMed: Tucci 2012, PubMed: Petermöller 1993 one affected sibling (Tucci Fam D-II:1), one unaffected sibling F no Germany - - - - - 1 Division of Human Genetics, Innsbruck
+?/+ 1i c.45+37_46-30del r.(?) p.(?) Parent #2 - likely pathogenic g.4792486_4792493del g.4742485_4742492del - - ROGDI_000013 - PubMed: Tucci 2012 - - Germline ? - - - - DNA SEQ peripheral blood - KTZS - PubMed: Tucci 2012 - F no France - - - - - 1 Human Genetics Medical University Innsbruck
+/+ 1i c.46-37_46-30del r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.4852493_4852500del g.4802492_4802499del - - ROGDI_000009 - PubMed: Tucci et al. 2012 - - Unknown - - - - - DNA PCR, SEQ - - KTZS - PubMed: Tucci 2012, PubMed: Musumeci 1994 one affected sibling (Tucci FamC-II:2) F yes Italy Sicily - - - - 1 Division of Human Genetics, Innsbruck
+/+ 1i c.46-37_46-30del r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.4852493_4852500del g.4802492_4802499del - - ROGDI_000009 - PubMed: Tucci et al. 2012 - - Unknown - - - - - DNA PCR, SEQ - - KTZS - PubMed: Tucci 2012, PubMed: Musumeci 1994 one affected sibling (Tucci FamC-II:1) M yes Italy Sicily - - - - 1 Division of Human Genetics, Innsbruck
?/. - c.46-5C>T r.spl? p.? Unknown - VUS g.4852459G>A g.4802458G>A ROGDI(NM_024589.2):c.46-5C>T (p.?) - ROGDI_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.46-4G>A r.spl? p.? Unknown - VUS g.4852458C>T g.4802457C>T ROGDI(NM_024589.2):c.46-4G>A (p.?) - ROGDI_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.117+9C>G r.(=) p.(=) Unknown - likely benign g.4852374G>C g.4802373G>C ROGDI(NM_024589.2):c.117+9C>G - GLYR1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.117+10C>G r.(=) p.(=) Unknown - likely benign g.4852373G>C g.4802372G>C ROGDI(NM_024589.2):c.117+10C>G - GLYR1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.117+10C>G r.(=) p.(=) Unknown - likely benign g.4852373G>C - ROGDI(NM_024589.2):c.117+10C>G - GLYR1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.117+10C>T r.(=) p.(=) Unknown - likely benign g.4852373G>A g.4802372G>A ROGDI(NM_024589.2):c.117+10C>T - ROGDI_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.118-13C>G r.(=) p.(=) Unknown - likely benign g.4851599G>C g.4801598G>C ROGDI(NM_024589.2):c.118-13C>G - ROGDI_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.201-1G>T r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.4791324C>A - - - ROGDI_000010 Variant Error [EREF/EREFSEQ]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - Germline yes - - - - DNA SEQ peripheral blood - KTZS - - sibling of IBK 12D2119 F yes Turkey - - - - - 1 Human Genetics Medical University Innsbruck
+/+ 4 c.229_230del r.(?) p.(Leu77Alafs*64) Both (homozygous) - pathogenic (recessive) g.4851295_4851296del g.4801294_4801295del - - ROGDI_000001 - PubMed: Schossig et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Schossig 2012 sibling: Fam. A-IV:3, two unaffected siblings F yes - Africa, Northern - - - - 1 Human Genetics Medical University Innsbruck
+/+ 4 c.229_230del r.(?) p.(Leu77Alafs*64) Both (homozygous) - pathogenic (recessive) g.4851295_4851296del g.4801294_4801295del - - ROGDI_000001 - PubMed: Schossig et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Schossig 2012 sibling: Fam. A-IV:4, two unaffected siblings M yes - Africa, Northern - - - - 1 Human Genetics Medical University Innsbruck
+/+ 5 c.286C>T r.(?) p.(Gln96Ter) Both (homozygous) - pathogenic (recessive) g.4850549G>A g.4800548G>A - - ROGDI_000002 - PubMed: Schossig et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Schossig 2012 no known consanguinity of parents, unaffected brother M no - East Tyrol - - - - 1 Human Genetics Medical University Innsbruck
+/+ 5 c.286C>T r.(?) p.(Gln96Ter) Both (homozygous) - pathogenic (recessive) g.4790550G>A - - - ROGDI_000002 Variant Error [EREF/EREFSEQ]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Schossig 2012 - rs387907145 Germline yes - - - - DNA SEQ peripheral blood - KTZS - PubMed: Schossig 2012 no siblings F no Austria East Tyrol - - - - 1 Human Genetics Medical University Innsbruck
+/+ 6 c.366dup r.(?) p.(Ala123Serfs) Paternal (confirmed) - pathogenic (recessive) g.4849754dup g.4799753dup - - ROGDI_000007 - PubMed: Tucci et al. 2012 - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - KTZS - PubMed: Tucci 2012, PubMed: Schossig 2012 two healthy siblings M no Germany - - - - - 1 Division of Human Genetics, Innsbruck
-?/. - c.378G>C r.(?) p.(Leu126=) Unknown - likely benign g.4849741C>G g.4799740C>G ROGDI(NM_024589.2):c.378G>C (p.L126=) - GLYR1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.389G>A r.(?) p.(Arg130Gln) Unknown - VUS g.4849730C>T g.4799729C>T - - GLYR1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.393C>G r.(?) p.(Asp131Glu) Unknown - likely benign g.4849726G>C g.4799725G>C ROGDI(NM_024589.2):c.393C>G (p.D131E) - ROGDI_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.417C>T r.(?) p.(Gly139=) Unknown - likely benign g.4849702G>A g.4799701G>A ROGDI(NM_024589.2):c.417C>T (p.G139=) - GLYR1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.432+13C>T r.(=) p.(=) Unknown - likely benign g.4849674G>A g.4799673G>A ROGDI(NM_024589.2):c.432+13C>T - ROGDI_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6i_11 c.432+462_*145delinsCAG r.? p.? Both (homozygous) - likely pathogenic g.(?_4847461)_(4848668_?)delinsCAG - chr16:4847461?_4848668+?delinsCAG - ROGDI_000029 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? R-0536 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.433-15C>T r.(=) p.(=) Unknown - likely benign g.4848683G>A g.4798682G>A ROGDI(NM_024589.2):c.433-15C>T - ROGDI_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 no known consanguinity of parents, affected siblings: Fam.AM 1-II:6 and 1-II:7, 5 unaffected siblings F no Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 no known consanguinity of parents, affected siblings: Fam.AM 1-II:1 and 1-II:7, 5 unaffected siblings F no Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 no known consanguinity of parents, affected siblings: Fam.AM 1-II:1 and 1-II:6, 5 unaffected siblings M no Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 siblings: Fam.AM 2-IV:2 and Fam.AM 2-IV:4, three unaffected siblings F yes Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 siblings: Fam.AM 2-IV:1 and Fam.AM 2-IV:4, three unaffected siblings M yes Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 siblings: Fam.AM 2-IV:1 and Fam.AM 2-IV:2, three unaffected siblings M yes Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 sibling: Fam.AM 3-V:3, one unaffected sibling, related to Fam.AM 4 and Fam.AM 5 M yes Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 sibling: Fam.AM 3-V:1, one unaffected sibling, related to Fam.AM 4 and Fam.AM 5 F yes Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5 F no Israel Northern, Druze 02y - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5 M no Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5 F no Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5 F no Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5 M no Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 one unaffected sibling, related to Fam.AM 3 and Fam.AM 4 M yes Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
?/. - c.479T>C r.(?) p.(Leu160Pro) Unknown - VUS g.4848622A>G g.4798621A>G ROGDI(NM_024589.3):c.479T>C (p.L160P) - GLYR1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.490G>A r.(?) p.(Ala164Thr) Unknown - VUS g.4848611C>T - ROGDI(NM_024589.3):c.490G>A (p.A164T) - GLYR1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.507del r.(?) p.(Glu170Argfs) Both (homozygous) - pathogenic (recessive) g.4848597del g.4798596del - - ROGDI_000006 - PubMed: Tucci et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Tucci 2012 - M no Germany - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.507del r.(?) p.(Glu170Argfs) Both (homozygous) - pathogenic (recessive) g.4848597del g.4798596del - - ROGDI_000006 - PubMed: Tucci et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Tucci 2012, PubMed: Christodoulou 1988 parents not knowingly related, two living affected siblings (Tucci Fam A-II:3, -II:4), one unaffected sibling M no Italy Sicily - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.507del r.(?) p.(Glu170Argfs) Both (homozygous) - pathogenic (recessive) g.4848597del g.4798596del - - ROGDI_000006 - PubMed: Tucci et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Tucci 2012, PubMed: Christodoulou 1988 parents not knowingly related, two living affected siblings (Tucci Fam A-II:2, -II:3), one unaffected sibling M no Italy Sicily - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.507del r.(?) p.(Glu170Argfs) Both (homozygous) - pathogenic (recessive) g.4848597del g.4798596del - - ROGDI_000006 - PubMed: Tucci et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Tucci 2012, PubMed: Christodoulou 1988 parents not knowingly related, two living affected siblings (Tucci Fam A-II:2, -II:4), one unaffected sibling F no Italy Sicily - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.507del r.(?) p.Glu170Argfs*72 Parent #1 - pathogenic (recessive) g.4788595del g.4738594del - - ROGDI_000006 - PubMed: Tucci 2012 - - Germline ? - - - - DNA SEQ peripheral blood - KTZS - PubMed: Tucci 2012 - F no France - - - - - 1 Human Genetics Medical University Innsbruck
-?/. - c.516C>T r.(?) p.(Ala172=) Unknown - likely benign g.4848585G>A - ROGDI(NM_024589.2):c.516C>T (p.A172=) - GLYR1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.522C>T r.(?) p.(Ser174=) Unknown - likely benign g.4848579G>A g.4798578G>A ROGDI(NM_024589.2):c.522C>T (p.S174=) - GLYR1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.531G>A r.(?) p.(Thr177=) Unknown - VUS g.4848570C>T g.4798569C>T - - ROGDI_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7i c.531+5G>C r.433_531del p.? Paternal (confirmed) - pathogenic (recessive) g.4848565C>G g.4798564C>G - - ROGDI_000003 - PubMed: Schossig et al. 2012 - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - KTZS - PubMed: Schossig 2012 parents distantly related, unaffected sibling F yes Switzerland - - - - - 1 Human Genetics Medical University Innsbruck
-?/. - c.531+10C>T r.(=) p.(=) Unknown - likely benign g.4848560G>A - ROGDI(NM_024589.2):c.531+10C>T - ROGDI_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7i c.532-2A>T r.530_531ins531-83_531-1 p.? Maternal (confirmed) - pathogenic (recessive) g.4848187T>A g.4798186T>A - - ROGDI_000004 - PubMed: Schossig et al. 2012 - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - KTZS - PubMed: Schossig 2012 parents distantly related, unaffected sibling F yes Switzerland - - - - - 1 Human Genetics Medical University Innsbruck
-?/. - c.558C>T r.(?) p.(Ser186=) Unknown - likely benign g.4848159G>A - ROGDI(NM_024589.2):c.558C>T (p.S186=) - SEPT12_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.625C>G r.(?) p.(Leu209Val) Unknown - likely benign g.4848092G>C g.4798091G>C ROGDI(NM_024589.2):c.625C>G (p.L209V) - SEPT12_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.646-5C>T r.spl? p.? Unknown - likely benign g.4847993G>A g.4797992G>A ROGDI(NM_024589.2):c.646-5C>T - ROGDI_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.646-2A>G r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.4787991T>C g.4737990T>C - - ROGDI_000011 - - - - Unknown ? - - - - DNA SEQ peripheral blood - KTZS - - - M ? - - - - - - 1 Human Genetics Medical University Innsbruck
?/. - c.686G>C r.(?) p.(Gly229Ala) Unknown - VUS g.4847948C>G g.4797947C>G ROGDI(NM_024589.2):c.686G>C (p.(Gly229Ala)) - ROGDI_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.696C>T r.(?) p.(Phe232=) Unknown - likely benign g.4847841G>A g.4797840G>A ROGDI(NM_024589.2):c.696C>T (p.F232=) - ROGDI_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.702G>A r.(?) p.(Trp234Ter) Unknown - likely pathogenic g.4847835C>T - ROGDI(NM_024589.2):c.702G>A (p.W234*) - SEPT12_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.712C>T r.(?) p.(Arg238Cys) Unknown - VUS g.4847825G>A g.4797824G>A ROGDI(NM_024589.3):c.712C>T (p.R238C) - ROGDI_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.713G>A r.(?) p.(Arg238His) Unknown - likely benign g.4847824C>T g.4797823C>T ROGDI(NM_024589.2):c.713G>A (p.R238H), ROGDI(NM_024589.3):c.713G>A (p.R238H) - ROGDI_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.713G>A r.(?) p.(Arg238His) Unknown - benign g.4847824C>T g.4797823C>T ROGDI(NM_024589.2):c.713G>A (p.R238H), ROGDI(NM_024589.3):c.713G>A (p.R238H) - ROGDI_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.713G>A r.(?) p.(Arg238His) Parent #1 - VUS g.4847824C>T g.4797823C>T - - ROGDI_000015 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs138409264 Germline - 3/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.783C>T r.(?) p.(Phe261=) Unknown - likely benign g.4847754G>A g.4797753G>A ROGDI(NM_024589.2):c.783C>T (p.F261=) - ROGDI_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.783C>T r.(?) p.(Phe261=) Unknown - likely benign g.4847754G>A - ROGDI(NM_024589.2):c.783C>T (p.F261=) - ROGDI_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.828C>T r.(?) p.(Ser276=) Unknown - likely benign g.4847497G>A - ROGDI(NM_024589.2):c.828C>T (p.S276=) - SEPT12_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1474A>G r.(=) p.(=) Unknown - VUS g.4845987T>C g.4795986T>C SMIM22(NM_001253790.1):c.163T>C (p.(Cys55Arg)) - SMIM22_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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