Full data view for gene RTTN

Information The variants shown are described using the NM_173630.3 transcript reference sequence.

179 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.-10142286_*19308723del r.0? p.0? Unknown - pathogenic g.48362664_78015180del - - - ATP8B1_000025 mosaicism, hemizygous in 0.46 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-/. - c.-19T>G r.(?) p.(=) Unknown - benign g.67872913A>C g.70205677A>C RTTN(NM_173630.3):c.-19T>G - RTTN_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.19A>G r.(?) p.(Ile7Val) Unknown - VUS g.67872876T>C g.70205640T>C RTTN(NM_173630.3):c.19A>G (p.I7V) - RTTN_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.31+1G>T r.spl? p.? Unknown - pathogenic g.67872863C>A g.70205627C>A RTTN(NM_173630.3):c.31+1G>T - RTTN_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.31+18C>T r.(=) p.(=) Unknown - likely benign g.67872846G>A g.70205610G>A RTTN(NM_173630.3):c.31+18C>T - RTTN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.32-3C>T r.spl? p.? Unknown - benign g.67872554G>A g.70205318G>A RTTN(NM_173630.3):c.32-3C>T - RTTN_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.71G>C r.(?) p.(Ser24Thr) Unknown - likely benign g.67872512C>G g.70205276C>G RTTN(NM_173630.3):c.71G>C (p.S24T) - RTTN_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.80G>A r.(?) p.(Cys27Tyr) Unknown - VUS g.67872503C>T g.70205267C>T RTTN(NM_173630.3):c.80G>A (p.C27Y) - RTTN_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.98T>C r.(?) p.(Leu33Ser) Unknown - VUS g.67872485A>G - RTTN(NM_173630.4):c.98T>C (p.(Leu33Ser)) - RTTN_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.153A>G r.(?) p.(Glu51=) Unknown - benign g.67872430T>C g.70205194T>C RTTN(NM_173630.3):c.153A>G (p.E51=) - RTTN_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.183G>A r.(?) p.(Lys61=) Unknown - benign g.67872400C>T g.70205164C>T RTTN(NM_173630.3):c.183G>A (p.K61=) - RTTN_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.220-12T>C r.(=) p.(=) Unknown - benign g.67871511A>G g.70204275A>G RTTN(NM_173630.3):c.220-12T>C - RTTN_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.278T>C r.(?) p.(Leu93Pro) Unknown - likely pathogenic g.67871441A>G g.70204205A>G - - RTTN_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.282G>T r.(?) p.(Arg94=) Unknown - likely benign g.67871437C>A g.70204201C>A RTTN(NM_173630.3):c.282G>T (p.R94=) - RTTN_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301C>A r.(?) p.(Leu101Met) Unknown - VUS g.67871418G>T - RTTN(NM_173630.3):c.301C>A (p.L101M) - RTTN_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.343C>T r.(?) p.(Leu115Phe) Unknown - VUS g.67871376G>A - RTTN(NM_173630.3):c.343C>T (p.L115F) - RTTN_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.376T>G r.(?) p.(Ser126Ala) Unknown - benign g.67871343A>C g.70204107A>C RTTN(NM_173630.4):c.376T>G (p.S126A) - RTTN_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.455T>G r.(?) p.(Phe152Cys) Unknown - likely benign g.67869162A>C g.70201926A>C RTTN(NM_173630.3):c.455T>G (p.F152C), RTTN(NM_173630.4):c.455T>G (p.F152C) - RTTN_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.455T>G r.(?) p.(Phe152Cys) Unknown - VUS g.67869162A>C g.70201926A>C RTTN(NM_173630.3):c.455T>G (p.F152C), RTTN(NM_173630.4):c.455T>G (p.F152C) - RTTN_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.460C>T r.(?) p.(Gln154Ter) Unknown - pathogenic g.67869157G>A g.70201921G>A RTTN(NM_173630.4):c.460C>T (p.Q154*) - RTTN_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.488-15C>T r.(=) p.(=) Unknown - likely benign g.67866755G>A g.70199519G>A RTTN(NM_173630.3):c.488-15C>T - RTTN_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.494A>C r.(?) p.(Gln165Pro) Unknown - likely pathogenic g.67866734T>G g.70199498T>G - - RTTN_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.561C>A r.(?) p.(Val187=) Unknown - likely benign g.67866667G>T - RTTN(NM_173630.3):c.561C>A (p.V187=) - RTTN_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.578+15G>A r.(=) p.(=) Unknown - benign g.67866635C>T g.70199399C>T RTTN(NM_173630.3):c.578+15G>A - RTTN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.590G>A r.(?) p.(Ser197Asn) Unknown - VUS g.67864963C>T g.70197727C>T RTTN(NM_173630.3):c.590G>A (p.S197N) - RTTN_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.601A>T r.(?) p.(Thr201Ser) Unknown - VUS g.67864952T>A g.70197716T>A RTTN(NM_173630.3):c.601A>T (p.T201S) - RTTN_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.602C>G r.(?) p.(Thr201Ser) Unknown - likely benign g.67864951G>C g.70197715G>C RTTN(NM_173630.3):c.602C>G (p.(Thr201Ser)) - RTTN_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.630G>C r.(?) p.(Leu210Phe) Unknown - VUS g.67864923C>G - RTTN(NM_173630.3):c.630G>C (p.L210F) - RTTN_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.635A>C r.(?) p.(Asp212Ala) Unknown - VUS g.67864918T>G g.70197682T>G RTTN(NM_173630.3):c.635A>C (p.D212A) - RTTN_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.694-19C>T r.(=) p.(=) Unknown - benign g.67863903G>A g.70196667G>A RTTN(NM_173630.3):c.694-19C>T - RTTN_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.694-9T>G r.(=) p.(=) Unknown - benign g.67863893A>C g.70196657A>C RTTN(NM_173630.3):c.694-9T>G - RTTN_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708G>T r.(?) p.(Leu236=) Unknown - likely benign g.67863870C>A g.70196634C>A RTTN(NM_173630.3):c.708G>T (p.L236=) - RTTN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.725_727dup r.(?) p.(Gly242dup) Unknown - benign g.67863852_67863854dup g.70196616_70196618dup RTTN(NM_173630.3):c.725_727dupGAG (p.G242dup), RTTN(NM_173630.4):c.723_725dupGAG (p.G242dup) - RTTN_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.725_727dup r.(?) p.(Gly242dup) Unknown - benign g.67863852_67863854dup g.70196616_70196618dup RTTN(NM_173630.3):c.725_727dupGAG (p.G242dup), RTTN(NM_173630.4):c.723_725dupGAG (p.G242dup) - RTTN_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.734A>G r.(?) p.(Lys245Arg) Unknown - benign g.67863844T>C g.70196608T>C RTTN(NM_173630.3):c.734A>G (p.K245R) - RTTN_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.734A>G r.(?) p.(Lys245Arg) Parent #1 - benign g.67863844T>C g.70196608T>C - - RTTN_000060 143 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17082206 Germline - 143/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 143 Mohammed Faruq
-/. - c.734A>G r.(?) p.(Lys245Arg) Both (homozygous) - benign g.67863844T>C g.70196608T>C - - RTTN_000060 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17082206 Germline - 4/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
?/. - c.803A>G r.(?) p.(Asn268Ser) Unknown - VUS g.67863775T>C - RTTN(NM_173630.3):c.803A>G (p.(Asn268Ser)) - RTTN_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.805T>C r.(?) p.(Phe269Leu) Parent #1 - likely benign g.67863773A>G g.70196537A>G - - RTTN_000134 23 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141156594 Germline - 23/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 23 Mohammed Faruq
-/. - c.841+26C>T r.(=) p.(=) Unknown - benign g.67863711G>A g.70196475G>A RTTN(NM_173630.3):c.841+26C>T - RTTN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.842-30A>G r.(=) p.(=) Unknown - benign g.67860719T>C g.70193483T>C RTTN(NM_173630.3):c.842-30A>G - RTTN_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885A>G r.(?) p.(Ala295=) Unknown - likely benign g.67860646T>C g.70193410T>C RTTN(NM_173630.3):c.885A>G (p.A295=) - RTTN_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.905A>C r.(?) p.(Gln302Pro) Unknown - likely benign g.67860626T>G g.70193390T>G RTTN(NM_173630.3):c.905A>C (p.Q302P), RTTN(NM_173630.4):c.905A>C (p.(Gln302Pro), p.Q302P) - RTTN_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.905A>C r.(?) p.(Gln302Pro) Unknown - likely benign g.67860626T>G - RTTN(NM_173630.3):c.905A>C (p.Q302P), RTTN(NM_173630.4):c.905A>C (p.(Gln302Pro), p.Q302P) - RTTN_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.905A>C r.(?) p.(Gln302Pro) Unknown - VUS g.67860626T>G - RTTN(NM_173630.3):c.905A>C (p.Q302P), RTTN(NM_173630.4):c.905A>C (p.(Gln302Pro), p.Q302P) - RTTN_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.952C>T r.(?) p.(Arg318Cys) Unknown - VUS g.67860579G>A - RTTN(NM_173630.4):c.952C>T (p.(Arg318Cys)) - RTTN_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1008-4G>T r.spl? p.? Unknown - benign g.67857959C>A g.70190723C>A RTTN(NM_173630.3):c.1008-4G>T (p.?) - RTTN_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1008-4G>T r.spl? p.? Unknown - likely benign g.67857959C>A g.70190723C>A RTTN(NM_173630.3):c.1008-4G>T (p.?) - RTTN_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1305G>C r.(?) p.(Met435Ile) Unknown - VUS g.67855344C>G - RTTN(NM_173630.3):c.1305G>C (p.M435I) - RTTN_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1306-16G>A r.(=) p.(=) Unknown - likely benign g.67844097C>T g.70176861C>T RTTN(NM_173630.3):c.1306-16G>A - RTTN_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1330G>A r.(?) p.(Gly444Arg) Unknown - likely benign g.67844057C>T g.70176821C>T RTTN(NM_173630.3):c.1330G>A (p.(Gly444Arg)) - RTTN_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1423A>G r.(?) p.(Ser475Gly) Unknown - likely benign g.67843964T>C g.70176728T>C RTTN(NM_173630.3):c.1423A>G (p.S475G) - RTTN_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1458G>A r.(?) p.(Thr486=) Unknown - benign g.67843929C>T g.70176693C>T RTTN(NM_173630.3):c.1458G>A (p.T486=) - RTTN_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1563T>C r.(?) p.(Ile521=) Unknown - likely benign g.67836217A>G g.70168981A>G RTTN(NM_173630.3):c.1563T>C (p.I521=) - RTTN_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1654T>C r.(?) p.(Cys552Arg) Unknown - VUS g.67836126A>G - RTTN(NM_173630.4):c.1654T>C (p.(Cys552Arg)) - RTTN_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1665C>A r.(?) p.(Asn555Lys) Unknown - VUS g.67836115G>T g.70168879G>T RTTN(NM_173630.3):c.1665C>A (p.N555K, p.(Asn555Lys)) - RTTN_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1665C>A r.(?) p.(Asn555Lys) Unknown - likely benign g.67836115G>T g.70168879G>T RTTN(NM_173630.3):c.1665C>A (p.N555K, p.(Asn555Lys)) - RTTN_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1665C>A r.(?) p.(Asn555Lys) Parent #1 - benign g.67836115G>T g.70168879G>T - - RTTN_000054 199 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34353615 Germline - 199/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 199 Mohammed Faruq
-/. - c.1665C>A r.(?) p.(Asn555Lys) Both (homozygous) - benign g.67836115G>T g.70168879G>T - - RTTN_000054 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34353615 Germline - 4/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-/. - c.1802+29G>A r.(=) p.(=) Unknown - benign g.67834126C>T g.70166890C>T RTTN(NM_173630.3):c.1802+29G>A - RTTN_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1832T>C r.(?) p.(Leu611Pro) Unknown - VUS g.67833395A>G g.70166159A>G - - RTTN_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1842A>G r.(?) p.(Glu614=) Unknown - likely benign g.67833385T>C g.70166149T>C RTTN(NM_173630.3):c.1842A>G (p.E614=) - RTTN_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1921A>G r.(?) p.(Ile641Val) Unknown - likely benign g.67833306T>C g.70166070T>C RTTN(NM_173630.3):c.1921A>G (p.I641V) - RTTN_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1929+3G>A r.spl? p.? Unknown - likely benign g.67833295C>T g.70166059C>T RTTN(NM_173630.3):c.1929+3G>A (p.?) - RTTN_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1963G>A r.(?) p.(Val655Met) Unknown - VUS g.67817936C>T g.70150700C>T RTTN(NM_173630.3):c.1963G>A (p.V655M) - RTTN_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2030T>G r.(?) p.(Phe677Cys) Unknown - VUS g.67817869A>C - RTTN(NM_173630.3):c.2030T>G (p.F677C) - RTTN_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2055+7C>T r.(=) p.(=) Unknown - benign g.67817837G>A g.70150601G>A RTTN(NM_173630.3):c.2055+7C>T - RTTN_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2055+7C>T r.(=) p.(=) Parent #1 - benign g.67817837G>A g.70150601G>A - - RTTN_000108 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117843366 Germline - 1/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.2056-2A>G r.spl? p.? Unknown - likely pathogenic g.67817325T>C - RTTN(NM_173630.3):c.2056-2A>G (p.?) - RTTN_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2172+18C>A r.(=) p.(=) Unknown - benign g.67817189G>T g.70149953G>T RTTN(NM_173630.3):c.2172+18C>A - RTTN_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2183A>C r.(?) p.(Asp728Ala) Unknown - VUS g.67816263T>G g.70149027T>G RTTN(NM_173630.3):c.2183A>C (p.D728A) - RTTN_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2237A>C r.(?) p.(Asp746Ala) Unknown - likely benign g.67816209T>G - RTTN(NM_173630.3):c.2237A>C (p.D746A) - RTTN_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2255C>T r.(?) p.(Pro752Leu) Unknown - VUS g.67816191G>A g.70148955G>A RTTN(NM_173630.3):c.2255C>T (p.P752L) - RTTN_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2298G>A r.(?) p.(Val766=) Unknown - likely benign g.67816148C>T - RTTN(NM_173630.3):c.2298G>A (p.V766=) - RTTN_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2309+12G>A r.(=) p.(=) Unknown - benign g.67816125C>T g.70148889C>T RTTN(NM_173630.3):c.2309+12G>A - RTTN_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2340A>T r.(?) p.(Ala780=) Unknown - likely benign g.67812989T>A g.70145753T>A RTTN(NM_173630.3):c.2340A>T (p.A780=) - RTTN_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2377C>T r.(?) p.(Arg793Cys) Unknown - VUS g.67812952G>A - RTTN(NM_173630.4):c.2377C>T (p.(Arg793Cys)) - RTTN_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2482-10del r.(=) p.(=) Unknown - benign g.67809647del g.70142411del RTTN(NM_173630.3):c.2482-10delT - RTTN_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2581+8C>T r.(=) p.(=) Unknown - likely benign g.67809516G>A g.70142280G>A RTTN(NM_173630.3):c.2581+8C>T - RTTN_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2582-1G>A r.spl? p.? Unknown - VUS g.67807425C>T - RTTN(NM_173630.4):c.2582-1G>A - RTTN_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 20 c.2594A>G r.(?) p.(His865Arg) Paternal (confirmed) - likely pathogenic g.67807412T>C g.70140176T>C - - RTTN_000004 - PubMed: Rump 2016 - - Germline yes 2/38 (2 sisters in patient cohort) - - - DNA SEQ-NG-I DNA isolated form blood - PMGYS - PubMed: Rump 2016 - F - Netherlands - - - - - 2 Birgit Sikkema-Raddatz
+?/. 18 c.2594A>G r.(?) p.(His865Arg) Unknown - likely pathogenic g.67807412T>C g.70140176T>C RTTN c.2594A > G, p.H865R - RTTN_000004 compound heterozygous PubMed: Rump 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ - - PMGYS 8 PubMed: Rump 2016 sibling of patient 9 F - - - - - - - 1 LOVD
+?/. 18 c.2594A>G r.(?) p.(His865Arg) Unknown - likely pathogenic g.67807412T>C g.70140176T>C RTTN c.2594A > G, p.H865R - RTTN_000004 compound heterozygous PubMed: Rump 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ - - PMGYS 9 PubMed: Rump 2016 sibling of patient 8 F - - - - - - - 1 LOVD
-?/. - c.2610G>A r.(?) p.(Lys870=) Unknown - likely benign g.67807396C>T g.70140160C>T RTTN(NM_173630.3):c.2610G>A (p.K870=) - RTTN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2680T>C r.(?) p.(Cys894Arg) Unknown - likely benign g.67806943A>G - RTTN(NM_173630.3):c.2680T>C (p.C894R) - RTTN_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2796A>T r.(?) p.(Leu932Phe) Both (homozygous) - pathogenic g.67802509T>A g.70135273T>A NM_173630: c.A2796T; p.L932F - RTTN_000005 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamBAB5129 PubMed: Karaca 2015 - - - - - - - family structure in paper - 1 Johan den Dunnen
+?/. - c.2796A>T r.(?) p.(Leu932Phe) Unknown - likely pathogenic g.67802509T>A g.70135273T>A RTTN(NM_173630.3):c.2796A>T (p.L932F) - RTTN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2804A>G r.(?) p.(His935Arg) Unknown - VUS g.67802501T>C g.70135265T>C RTTN(NM_173630.3):c.2804A>G (p.H935R), RTTN(NM_173630.4):c.2804A>G (p.H935R) - RTTN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2804A>G r.(?) p.(His935Arg) Unknown - VUS g.67802501T>C g.70135265T>C RTTN(NM_173630.3):c.2804A>G (p.H935R), RTTN(NM_173630.4):c.2804A>G (p.H935R) - RTTN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2804A>G r.(?) p.(His935Arg) Unknown - VUS g.67802501T>C - RTTN(NM_173630.3):c.2804A>G (p.H935R), RTTN(NM_173630.4):c.2804A>G (p.H935R) - RTTN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2821G>C r.(?) p.(Val941Leu) Unknown - likely benign g.67802484C>G g.70135248C>G RTTN(NM_173630.3):c.2821G>C (p.V941L), RTTN(NM_173630.4):c.2821G>C (p.(Val941Leu)) - RTTN_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2821G>C r.(?) p.(Val941Leu) Unknown - likely benign g.67802484C>G - RTTN(NM_173630.3):c.2821G>C (p.V941L), RTTN(NM_173630.4):c.2821G>C (p.(Val941Leu)) - RTTN_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2856A>G r.(?) p.(Leu952=) Unknown - likely benign g.67802449T>C g.70135213T>C RTTN(NM_173630.3):c.2856A>G (p.L952=) - RTTN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2856A>G r.(=) p.(=) Parent #1 - benign g.67802449T>C g.70135213T>C - - RTTN_000043 30 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35139926 Germline - 30/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 30 Mohammed Faruq
-/. - c.2886-9A>G r.(=) p.(=) Unknown - benign g.67801786T>C g.70134550T>C RTTN(NM_173630.3):c.2886-9A>G - RTTN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2886-9A>G r.(=) p.(=) Parent #1 - benign g.67801786T>C g.70134550T>C - - RTTN_000042 54 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75225724 Germline - 54/2788 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 54 Mohammed Faruq
+/. - c.2953A>G r.(?) p.(Arg985Gly) Both (homozygous) - pathogenic (recessive) g.67801710T>C g.70134474T>C - - RTTN_000103 - PubMed: Duerinckx 2021 - - Germline - - - - - DNA SEQ-NG - - microcephaly Pat27 PubMed: Duerinckx 2021 patient F yes Morocco - - - - - 1 Johan den Dunnen
-?/. - c.3048G>A r.(?) p.(Pro1016=) Unknown - likely benign g.67795689C>T g.70128453C>T RTTN(NM_173630.3):c.3048G>A (p.P1016=) - RTTN_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3167C>T r.(?) p.(Ser1056Phe) Unknown - VUS g.67794954G>A g.70127718G>A RTTN(NM_173630.3):c.3167C>T (p.S1056F) - RTTN_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3235A>G r.(?) p.(Ile1079Val) Unknown - likely benign g.67794886T>C g.70127650T>C RTTN(NM_173630.3):c.3235A>G (p.I1079V) - RTTN_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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