Full data view for gene RIT1

Information The variants shown are described using the NM_006912.5 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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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.-43-74G>A r.(=) p.(=) Unknown - VUS g.155880669C>T - RIT1(NM_001256821.1):c.8G>A (p.(Arg3Lys)) - KIAA0907_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-21G>C r.(?) p.(=) Unknown - benign g.155880573C>G g.155910782C>G RIT1(NM_001256821.2):c.31G>C (p.E11Q) - RIT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-21G>C r.(?) p.(=) Unknown - benign g.155880573C>G g.155910782C>G RIT1(NM_001256821.2):c.31G>C (p.E11Q) - RIT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.67A>C r.(?) p.(Lys23Gln) Unknown - pathogenic g.155880486T>G - - - KIAA0907_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.104G>C r.(?) p.(Ser35Thr) Unknown - likely pathogenic g.155880449C>G - - - KIAA0907_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.133C>G r.(?) p.(Arg45Gly) Unknown - likely benign g.155880271G>C g.155910480G>C - - KIAA0907_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.170C>G r.(?) p.(Ala57Gly) Unknown ACMG pathogenic g.155874589G>C g.155904798G>C - - RIT1_000003 - - - - De novo yes - - - - DNA SEQ-NG - - NS8 S_011 PubMed: Popp 2017, Journal: Popp 2017 - M no - - - - - - 1 Bernt Popp
+/. - c.170C>G r.(?) p.(Ala57Gly) Unknown - pathogenic g.155874589G>C g.155904798G>C RIT1(NM_006912.5):c.170C>G (p.(Ala57Gly)), RIT1(NM_006912.6):c.170C>G (p.A57G) - RIT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.170C>G r.(?) p.(Ala57Gly) Unknown - pathogenic g.155874589G>C - RIT1(NM_006912.5):c.170C>G (p.(Ala57Gly)), RIT1(NM_006912.6):c.170C>G (p.A57G) - RIT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.170C>G r.(?) p.(Ala57Gly) Unknown - pathogenic g.155874589G>C - RIT1(NM_006912.5):c.170C>G (p.(Ala57Gly)), RIT1(NM_006912.6):c.170C>G (p.A57G) - RIT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.229G>A r.(?) p.(Ala77Thr) Unknown - pathogenic g.155874530C>T g.155904739C>T - - RIT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229G>C r.(?) p.(Ala77Pro) Unknown - VUS g.155874530C>G g.155904739C>G RIT1(NM_006912.6):c.229G>C (p.(Ala77Pro)) - RIT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.229G>C r.(?) p.(Ala77Pro) Unknown - pathogenic g.155874530C>G - RIT1(NM_006912.6):c.229G>C (p.(Ala77Pro)) - RIT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235C>G r.(?) p.(Gln79Glu) Unknown - VUS g.155874524G>C - - - RIT1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.242A>G r.(?) p.(Glu81Gly) Unknown - pathogenic g.155874289T>C g.155904498T>C - - RIT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.244T>C r.(?) p.(Phe82Leu) Unknown - likely pathogenic g.155874287A>G g.155904496A>G RIT1(NM_006912.6):c.244T>C (p.F82L) - RIT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.244T>C r.(?) p.(Phe82Leu) Unknown - pathogenic g.155874287A>G - RIT1(NM_006912.6):c.244T>C (p.F82L) - RIT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.244T>G r.(?) p.(Phe82Val) Unknown ACMG pathogenic g.155874287A>C g.155904496A>C - - RIT1_000002 - PubMed: Trujillano 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - NS8 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - 1 Daniel Trujillano
+/. - c.244T>G r.(?) p.(Phe82Val) Unknown - pathogenic g.155874287A>C g.155904496A>C RIT1(NM_006912.6):c.244T>G (p.F82V) - RIT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.244T>G r.(?) p.(Phe82Val) Unknown ACMG pathogenic (dominant) g.155874287A>C g.155904496A>C - - RIT1_000002 ACMG PS2, PM1, PM2, PM5, PP2, PP3, PP4, PP5 PubMed: Marinakis 2021 - rs869025194 De novo - - - - - DNA SEQ, SEQ-NG - WES ? 9044 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+?/. - c.245T>G r.(?) p.(Phe82Cys) Unknown - likely pathogenic g.155874286A>C g.155904495A>C - - RIT1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.246T>A r.(?) p.(Phe82Leu) Unknown - pathogenic g.155874285A>T g.155904494A>T - - RIT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.246T>G r.(?) p.(Phe82Leu) Unknown - likely pathogenic g.155874285A>C g.155904494A>C - - RIT1_000001 - PubMed: Joyce 2016 - rs730881014 De novo - - - - - DNA SEQ Blood - NS8 - PubMed: Joyce 2016 - M ? (United Kingdom (Great Britain)) - - - - - 1 Pia Ostergaard
+?/. 5 c.246T>G r.(?) p.(Phe82Leu) Unknown - likely pathogenic g.155874285A>C g.155904494A>C - - RIT1_000001 - PubMed: Joyce 2016 - rs730881014 Unknown ? - - - - DNA SEQ blood - NS8 - PubMed: Joyce 2016 - M ? (United Kingdom (Great Britain)) - - - - - 1 Pia Ostergaard
+/. - c.246T>G r.(?) p.(Phe82Leu) Unknown - pathogenic g.155874285A>C g.155904494A>C RIT1(NM_006912.6):c.246T>G (p.F82L) - RIT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.246T>G r.(?) p.(Phe82Leu) Unknown - pathogenic g.155874285A>C - RIT1(NM_006912.6):c.246T>G (p.F82L) - RIT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.247A>C r.(?) p.(Thr83Pro) Unknown - pathogenic g.155874284T>G - - - RIT1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.251C>T r.(?) p.(Ala84Val) Unknown - likely pathogenic g.155874280G>A - - - RIT1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.265T>C r.(?) p.(Tyr89His) Unknown - pathogenic g.155874266A>G g.155904475A>G RIT1(NM_006912.6):c.265T>C (p.(Tyr89His)) - RIT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.265T>C r.(?) p.(Tyr89His) Unknown - pathogenic g.155874266A>G - RIT1(NM_006912.6):c.265T>C (p.(Tyr89His)) - RIT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.268A>G r.(?) p.(Met90Val) Unknown - pathogenic g.155874263T>C g.155904472T>C RIT1(NM_006912.6):c.268A>G (p.M90V, p.(Met90Val)) - RIT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.268A>G r.(?) p.(Met90Val) Unknown - pathogenic g.155874263T>C - RIT1(NM_006912.6):c.268A>G (p.M90V, p.(Met90Val)) - RIT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.268A>G r.(?) p.(Met90Val) Unknown ACMG pathogenic (dominant) g.155874263T>C - - - RIT1_000010 ACMG: PS2, PS3_MOD, PM5, PS4_SUP, PM2_SUP, PP3 PMID: 23791108, 24939608, 25959749, 7109146, 27101134, 27109146, 29734338 VCV000561681.10 rs1557960039 Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - NS8 189382 - prenatal exome analysis after ultrasound screening ? - Germany - - - - - 1 Andreas Laner
+/. - c.268A>G r.(?) p.(Met90Val) Unknown ACMG pathogenic (dominant) g.155874263T>C - c.319A>G (p.Met107Val) - RIT1_000010 ACMG: PS2, PS4, PS3_MOD, PM5, PM2_SUP, PP3 PMID: 27109146, 30293990, 23791108, 24939608, 29734338 VCV000561681.14 - De novo - - - - - DNA SEQ-NG-I - - NS8 201305 - prenatal trio-exom after ultrasound abnormalities M no Germany - - - - - 1 Andreas Laner
+/. - c.268A>G r.(?) p.(Met90Val) Unknown - pathogenic g.155874263T>C - RIT1(NM_006912.6):c.268A>G (p.M90V, p.(Met90Val)) - RIT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.269T>C r.(?) p.(Met90Thr) Unknown - likely pathogenic g.155874262A>G - RIT1(NM_006912.6):c.269T>C (p.M90T) - RIT1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.270G>A r.(?) p.(Met90Ile) Unknown - pathogenic g.155874261C>T g.155904470C>T - - RIT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.270G>A r.(?) p.(Met90Ile) Unknown ACMG pathogenic (dominant) g.155874261C>T g.155904470C>T - - RIT1_000020 ACMG PS1, PS2, PM1, PM2, PM5, PP2, PP3, PP4, PP5 PubMed: Marinakis 2021 - rs483352822 De novo - - - - - DNA SEQ, SEQ-NG - WES ? 9030 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.270G>C r.(?) p.(Met90Ile) Unknown - pathogenic g.155874261C>G - RIT1(NM_006912.6):c.270G>C (p.M90I) - RIT1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.270G>C r.(?) p.(Met90Ile) Unknown - pathogenic g.155874261C>G - RIT1(NM_006912.6):c.270G>C (p.M90I) - RIT1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.270G>T r.(?) p.(Met90Ile) Unknown - pathogenic g.155874261C>A g.155904470C>A RIT1(NM_006912.6):c.270G>T (p.M90I) - RIT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.270G>T r.(?) p.(Met90Ile) Unknown - pathogenic g.155874261C>A g.155904470C>A RIT1(NM_006912.6):c.270G>T (p.M90I) - RIT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.272G>C r.(?) p.(Arg91Thr) Unknown - VUS g.155874259C>G - - - RIT1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.284G>C r.(?) p.(Gly95Ala) Unknown - pathogenic g.155874247C>G g.155904456C>G RIT1(NM_006912.6):c.284G>C (p.G95A) - RIT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.284G>C r.(?) p.(Gly95Ala) Unknown - pathogenic g.155874247C>G g.155904456C>G RIT1(NM_006912.6):c.284G>C (p.G95A) - RIT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.308C>T r.(?) p.(Thr103Met) Unknown - likely pathogenic g.155874223G>A - RIT1(NM_006912.5):c.308C>T (p.(Thr103Met)) - RIT1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.325C>T r.(?) p.(His109Tyr) Unknown - VUS g.155874206G>A - RIT1(NM_006912.6):c.325C>T (p.(His109Tyr)) - RIT1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.338A>C r.(?) p.(Glu113Ala) Unknown - VUS g.155874193T>G g.155904402T>G - - RIT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.365G>T r.(?) p.(Arg122Leu) Unknown - likely pathogenic g.155874166C>A g.155904375C>A - - RIT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.375C>T r.(?) p.(Asp125=) Unknown - benign g.155874156G>A g.155904365G>A - - RIT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.430-7C>T r.(=) p.(=) Unknown - benign g.155870416G>A g.155900625G>A RIT1(NM_006912.6):c.430-7C>T - RIT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.430-7C>T r.(=) p.(=) Unknown - benign g.155870416G>A g.155900625G>A RIT1(NM_006912.6):c.430-7C>T - RIT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.510T>C r.(?) p.(Tyr170=) Unknown - likely benign g.155870329A>G g.155900538A>G - - RIT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.535G>A r.(?) p.(Val179Ile) Unknown - likely benign g.155870304C>T g.155900513C>T - - RIT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.575C>T r.(?) p.(Ala192Val) Unknown - VUS g.155870264G>A - RIT1(NM_006912.5):c.575C>T (p.(Ala192Val)) - RIT1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.595C>T r.(?) p.(Pro199Ser) Unknown - likely benign g.155870244G>A g.155900453G>A - - RIT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.617G>A r.(?) p.(Arg206Lys) Unknown - VUS g.155870222C>T g.155900431C>T - - RIT1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.634C>T r.(?) p.(Arg212Trp) Unknown - VUS g.155870205G>A - RIT1(NM_006912.5):c.634C>T (p.(Arg212Trp)) - RIT1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.644_647del r.(?) p.(Lys215Ilefs*3) Unknown - likely benign g.155870196_155870199del - RIT1(NM_006912.6):c.644_647del (p.(Lys215IlefsTer3)) - RIT1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.650C>G r.(?) p.(Ser217*) Unknown - VUS g.155870189G>C - RIT1(NM_006912.6):c.650C>G (p.S217*) - RIT1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6A>G r.(=) p.(=) Unknown - likely benign g.155870173T>C g.155900382T>C - - RIT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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