All variants in the RAI1 gene

Information The variants shown are described using the NM_030665.3 transcript reference sequence.

264 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.-216A>C r.(?) p.(=) - likely benign g.17585040A>C g.17681726A>C - - RAI1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-17+27069C>G r.(=) p.(=) - VUS g.17654542C>G g.17751228C>G - - RAI1_000003 - - - - Germline - - - - - Yu Sun
+?/. _1_6_ c.0 r.0 p.0 - likely pathogenic g.(16000001_22200000)del - del(17)(p11.2) - RAI1_000000 3.4 Mb deletion incl. RAI1 may contribute to some aspects of the sleep/behavioral/cognitive deficits (similar phenotypes in Smith-Magenis syndrome patients) PubMed: Lu 2007, Journal: Lu 2007 - - Unknown - - - - - Johan den Dunnen
+/. - c.13C>T r.(?) p.(Arg5*) ACMG pathogenic (dominant) g.17696275C>T - - - RAI1_000191 - - 1679394 - De novo - - - - - Marketa Wayhelova
-?/. - c.101G>A r.(?) p.(Ser34Asn) - likely benign g.17696363G>A g.17793049G>A RAI1(NM_030665.3):c.101G>A (p.S34N), RAI1(NM_030665.4):c.101G>A (p.S34N) - RAI1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.101G>A r.(?) p.(Ser34Asn) - likely benign g.17696363G>A - RAI1(NM_030665.3):c.101G>A (p.S34N), RAI1(NM_030665.4):c.101G>A (p.S34N) - RAI1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.109G>A r.(?) p.(Gly37Arg) - VUS g.17696371G>A g.17793057G>A - - RAI1_000155 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201393598 Germline - 1/2794 individuals - - - Mohammed Faruq
-?/. - c.139G>A r.(?) p.(Ala47Thr) - likely benign g.17696401G>A g.17793087G>A RAI1(NM_030665.3):c.139G>A (p.(Ala47Thr)) - RAI1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 3 c.187G>A r.(?) p.(Ala63Thr) - benign g.17696449G>A g.17793135G>A - - RAI1_000006 - - - - Germline - - - - - Andreas Laner
-?/. - c.223G>T r.(?) p.(Ala75Ser) - likely benign g.17696485G>T - RAI1(NM_030665.3):c.223G>T (p.(Ala75Ser)) - RAI1_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 c.262C>T r.(?) p.(Gln88*) - pathogenic g.17696524C>T g.17793210C>T - - RAI1_000004 associated with ID phenotype PubMed: Gilissen 2014 - - De novo - - - - - Marianne Vos (LOVD-team)
?/. 3 c.269G>C r.(?) p.(Gly90Ala) - VUS g.17696531G>C g.17793217G>C - - RAI1_000002 - - - - Germline - - - - - Yu Sun
-/. 3 c.269G>C r.(?) p.(Gly90Ala) - benign g.17696531G>C g.17793217G>C - - RAI1_000002 also found in wild type - - rs3803763 Germline - - - - - Andreas Laner
-/. - c.269G>C r.(?) p.(Gly90Ala) - benign g.17696531G>C g.17793217G>C RAI1(NM_030665.4):c.269G>C (p.G90A) - RAI1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.269G>C r.(?) p.(Gly90Ala) - benign g.17696531G>C g.17793217G>C RAI1(NM_030665.4):c.269G>C (p.G90A) - RAI1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.284C>T r.(?) p.(Pro95Leu) - VUS g.17696546C>T g.17793232C>T RAI1(NM_030665.3):c.284C>T (p.P95L), RAI1(NM_030665.4):c.284C>T (p.P95L) - RAI1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.284C>T r.(?) p.(Pro95Leu) - VUS g.17696546C>T - RAI1(NM_030665.3):c.284C>T (p.P95L), RAI1(NM_030665.4):c.284C>T (p.P95L) - RAI1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.304G>A r.(?) p.(Val102Ile) - likely benign g.17696566G>A - RAI1(NM_030665.3):c.304G>A (p.(Val102Ile)) - RAI1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.331C>T r.(?) p.(Arg111Cys) - likely benign g.17696593C>T - - - RAI1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.362G>A r.(?) p.(Trp121Ter) - likely pathogenic g.17696624G>A g.17793310G>A - - RAI1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.362_363insT r.(?) p.(Trp121Cysfs*22) - pathogenic g.17696624_17696625insT g.17793310_17793311insT - - RAI1_000154 - - - - Unknown - - - - - IMGAG
+/. - c.363G>A r.(?) p.(Trp121Ter) - pathogenic g.17696625G>A - RAI1(NM_030665.4):c.363G>A (p.W121*) - RAI1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.367dup r.(?) p.(Ala123GlyfsTer20) - pathogenic g.17696629dup - - - RAI1_000207 - - - - CLASSIFICATION record - - - - - MobiDetails
+?/. - c.487C>T r.(?) p.(Gln163*) - likely pathogenic g.17696749C>T - RAI1(NM_030665.4):c.487C>T (p.Q163*) - RAI1_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 3 c.493C>A r.(?) p.(Pro165Thr) - VUS g.17696755C>A g.17793441C>A - - RAI1_000001 - PubMed: Almomani 2011 - rs11649804 Germline - - - - - Gerard C.P. Schaafsma
-/. 3 c.493C>A r.(?) p.(Pro165Thr) - benign g.17696755C>A g.17793441C>A - - RAI1_000001 also found in wild type - - rs11649804 Germline - - - - - Andreas Laner
-/. - c.493C>A r.(?) p.(Pro165Thr) - benign g.17696755C>A g.17793441C>A RAI1(NM_030665.4):c.493C>A (p.P165T) - RAI1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.493C>A r.(?) p.(Pro165Thr) - benign g.17696755C>A g.17793441C>A RAI1(NM_030665.4):c.493C>A (p.P165T) - RAI1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.610C>T r.(?) p.(Pro204Ser) - likely benign g.17696872C>T g.17793558C>T RAI1(NM_030665.3):c.610C>T (p.P204S, p.(Pro204Ser)), RAI1(NM_030665.4):c.610C>T (p.P204S) - RAI1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.610C>T r.(?) p.(Pro204Ser) - likely benign g.17696872C>T g.17793558C>T RAI1(NM_030665.3):c.610C>T (p.P204S, p.(Pro204Ser)), RAI1(NM_030665.4):c.610C>T (p.P204S) - RAI1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.610C>T r.(?) p.(Pro204Ser) - likely benign g.17696872C>T g.17793558C>T RAI1(NM_030665.3):c.610C>T (p.P204S, p.(Pro204Ser)), RAI1(NM_030665.4):c.610C>T (p.P204S) - RAI1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.613del r.(?) p.(Gln205Argfs*47) - likely pathogenic g.17696875del g.17793561del - - RAI1_000085 - - - - Unknown - - - - - IMGAG
+?/. - c.631C>T r.(?) p.(Gln211*) ACMG likely pathogenic g.17696893C>T - - - RAI1_000163 ACMG grading: PVS1,PM2 additinal phenotypes: Motor delay, Neurodevelopmental delay, Cognitive impairment,Abnormal aggressive, impulsive or violent behavior, Self-injurious behavior, Abnormal social behavior - - - Germline - - - - - Andreas Laner
-?/. - c.688G>A r.(?) p.(Gly230Arg) - likely benign g.17696950G>A g.17793636G>A RAI1(NM_030665.3):c.688G>A (p.(Gly230Arg)) - RAI1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.715T>A r.(?) p.(Cys239Ser) - likely benign g.17696977T>A - RAI1(NM_030665.3):c.715T>A (p.(Cys239Ser)) - RAI1_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.719C>T r.(?) p.(Thr240Ile) - likely benign g.17696981C>T g.17793667C>T RAI1(NM_030665.3):c.719C>T (p.T240I) - RAI1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.725C>T r.(?) p.(Pro242Leu) - likely benign g.17696987C>T g.17793673C>T RAI1(NM_030665.3):c.725C>T (p.P242L, p.(Pro242Leu)), RAI1(NM_030665.4):c.725C>T (p.P242L) - RAI1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.725C>T r.(?) p.(Pro242Leu) - likely benign g.17696987C>T g.17793673C>T RAI1(NM_030665.3):c.725C>T (p.P242L, p.(Pro242Leu)), RAI1(NM_030665.4):c.725C>T (p.P242L) - RAI1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.725C>T r.(?) p.(Pro242Leu) - likely benign g.17696987C>T g.17793673C>T RAI1(NM_030665.3):c.725C>T (p.P242L, p.(Pro242Leu)), RAI1(NM_030665.4):c.725C>T (p.P242L) - RAI1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.730G>A r.(?) p.(Ala244Thr) - likely benign g.17696992G>A - RAI1(NM_030665.3):c.730G>A (p.(Ala244Thr)) - RAI1_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.761G>T r.(?) p.(Ser254Ile) - likely benign g.17697023G>T - RAI1(NM_030665.3):c.761G>T (p.(Ser254Ile)) - RAI1_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.796C>T r.(?) p.(Leu266Phe) - likely benign g.17697058C>T - RAI1(NM_030665.3):c.796C>T (p.(Leu266Phe)) - RAI1_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.836_837insACAGCAGCA r.(?) p.(Gln289_Gln291dup) - VUS g.17697098_17697099insACAGCAGCA - RAI1(NM_030665.4):c.836_837insACAGCAGCA (p.Q289_Q291dup) - RAI1_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 3 c.837G>A r.(?) p.(=) - benign g.17697099G>A g.17793785G>A - - RAI1_000007 - - - rs11078398 Germline - - - - - Andreas Laner
-/. - c.837G>A r.(?) p.(Gln279=) - benign g.17697099G>A g.17793785G>A RAI1(NM_030665.4):c.837G>A (p.(Gln279=)), RAI1(NM_030665.4):c.837_838delGCinsAC (p.Q279_Q280=) - RAI1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.837G>A r.(?) p.(Gln279=) - benign g.17697099G>A g.17793785G>A RAI1(NM_030665.4):c.837G>A (p.(Gln279=)), RAI1(NM_030665.4):c.837_838delGCinsAC (p.Q279_Q280=) - RAI1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.837G>A r.(?) p.(Gln279=) - likely benign g.17697099G>A - RAI1(NM_030665.4):c.837G>A (p.(Gln279=)), RAI1(NM_030665.4):c.837_838delGCinsAC (p.Q279_Q280=) - RAI1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.837_838del r.(?) p.(Gln280AlafsTer108) - benign g.17697099_17697100del g.17793785_17793786del RAI1(NM_030665.3):c.837_838delGC (p.(Gln280fs)), RAI1(NM_030665.4):c.837_838delGC (p.Q280Afs*108) - RAI1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.837_838del r.(?) p.(Gln280AlafsTer108) - likely benign g.17697099_17697100del g.17793785_17793786del RAI1(NM_030665.3):c.837_838delGC (p.(Gln280fs)), RAI1(NM_030665.4):c.837_838delGC (p.Q280Afs*108) - RAI1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.840del r.(?) p.(Gln280HisfsTer84) - benign g.17697102del g.17793788del RAI1(NM_030665.3):c.840del (p.(Gln280HisfsTer84)), RAI1(NM_030665.3):c.840delG (p.Q280Hfs*84), RAI1(NM_030665.4):c.840_843delGCAGinsCAG (p.Q280Hfs...) - RAI1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.840del r.(?) p.(Gln280HisfsTer84) - benign g.17697102del g.17793788del RAI1(NM_030665.3):c.840del (p.(Gln280HisfsTer84)), RAI1(NM_030665.3):c.840delG (p.Q280Hfs*84), RAI1(NM_030665.4):c.840_843delGCAGinsCAG (p.Q280Hfs...) - RAI1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.840del r.(?) p.(Gln280HisfsTer84) - benign g.17697102del g.17793788del RAI1(NM_030665.3):c.840del (p.(Gln280HisfsTer84)), RAI1(NM_030665.3):c.840delG (p.Q280Hfs*84), RAI1(NM_030665.4):c.840_843delGCAGinsCAG (p.Q280Hfs...) - RAI1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.840del r.(?) p.(Gln280HisfsTer84) - likely benign g.17697102del g.17793788del RAI1(NM_030665.3):c.840del (p.(Gln280HisfsTer84)), RAI1(NM_030665.3):c.840delG (p.Q280Hfs*84), RAI1(NM_030665.4):c.840_843delGCAGinsCAG (p.Q280Hfs...) - RAI1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.840G>A r.(?) p.(Gln280=) - benign g.17697102G>A g.17793788G>A RAI1(NM_030665.3):c.840G>A (p.Q280=) - RAI1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.840_843del r.(?) p.(Gln280HisfsTer83) - likely benign g.17697102_17697105del g.17793788_17793791del RAI1(NM_030665.3):c.840_843del (p.(Gln280HisfsTer83)), RAI1(NM_030665.4):c.840_843delGCAG (p.Q280Hfs*83) - RAI1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.840_843del r.(?) p.(Gln280HisfsTer83) - benign g.17697102_17697105del - RAI1(NM_030665.3):c.840_843del (p.(Gln280HisfsTer83)), RAI1(NM_030665.4):c.840_843delGCAG (p.Q280Hfs*83) - RAI1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.840_849del r.(?) p.(Gln280HisfsTer81) - benign g.17697102_17697111del g.17793788_17793797del RAI1(NM_030665.3):c.840_849delGCAGCAGCAG (p.Q280Hfs*81), RAI1(NM_030665.4):c.840_849delGCAGCAGCAG (p.Q280Hfs*81) - RAI1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.840_849del r.(?) p.(Gln280HisfsTer81) - benign g.17697102_17697111del g.17793788_17793797del RAI1(NM_030665.3):c.840_849delGCAGCAGCAG (p.Q280Hfs*81), RAI1(NM_030665.4):c.840_849delGCAGCAGCAG (p.Q280Hfs*81) - RAI1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.845_857del r.(?) p.(Gln282Argfs*78) ACMG pathogenic g.17697107_17697119del g.17793793_17793805del - - RAI1_000189 - - - - Unknown - - - - - Cordula Haas
?/. - c.846_872del r.(?) p.(Gln283_Gln291del) - VUS g.17697108_17697134del - RAI1(NM_030665.4):c.846_872del (p.(Gln283_Gln291del)) - RAI1_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.852_872del r.(?) p.(Gln285_Gln291del) - VUS g.17697114_17697134del g.17793800_17793820del RAI1(NM_030665.3):c.832_852del (p.(Gln285_Gln291del)), RAI1(NM_030665.3):c.852_872delGCAGCAGCAGCAGCAGCAGCA (p.Q285_Q291del), RAI1(NM_030665.4):c.85... - RAI1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.852_872del r.(?) p.(Gln285_Gln291del) - likely benign g.17697114_17697134del g.17793800_17793820del RAI1(NM_030665.3):c.832_852del (p.(Gln285_Gln291del)), RAI1(NM_030665.3):c.852_872delGCAGCAGCAGCAGCAGCAGCA (p.Q285_Q291del), RAI1(NM_030665.4):c.85... - RAI1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.852_872del r.(?) p.(Gln285_Gln291del) - VUS g.17697114_17697134del - RAI1(NM_030665.3):c.832_852del (p.(Gln285_Gln291del)), RAI1(NM_030665.3):c.852_872delGCAGCAGCAGCAGCAGCAGCA (p.Q285_Q291del), RAI1(NM_030665.4):c.85... - RAI1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.855_872del r.(?) p.(Gln286_Gln291del) - likely benign g.17697117_17697134del g.17793803_17793820del RAI1(NM_030665.4):c.855_872delGCAGCAGCAGCAGCAGCA (p.Q286_Q291del) - RAI1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.858_872del r.(?) p.(Gln287_Gln291del) - likely benign g.17697120_17697134del g.17793806_17793820del RAI1(NM_030665.3):c.832_846del (p.(Gln283_Gln287del)), RAI1(NM_030665.4):c.858_872delGCAGCAGCAGCAGCA (p.Q287_Q291del) - RAI1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.858_872del r.(?) p.(Gln287_Gln291del) - likely benign g.17697120_17697134del - RAI1(NM_030665.3):c.832_846del (p.(Gln283_Gln287del)), RAI1(NM_030665.4):c.858_872delGCAGCAGCAGCAGCA (p.Q287_Q291del) - RAI1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.861_872del r.(?) p.(Gln288_Gln291del) - benign g.17697123_17697134del g.17793809_17793820del RAI1(NM_030665.3):c.835_846del (p.(Gln283_Gln286del)), RAI1(NM_030665.3):c.861_872delGCAGCAGCAGCA (p.Q288_Q291del), RAI1(NM_030665.4):c.861_872delG... - RAI1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.861_872del r.(?) p.(Gln288_Gln291del) - likely benign g.17697123_17697134del g.17793809_17793820del RAI1(NM_030665.3):c.835_846del (p.(Gln283_Gln286del)), RAI1(NM_030665.3):c.861_872delGCAGCAGCAGCA (p.Q288_Q291del), RAI1(NM_030665.4):c.861_872delG... - RAI1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.861_872del r.(?) p.(Gln288_Gln291del) - likely benign g.17697123_17697134del g.17793809_17793820del RAI1(NM_030665.3):c.835_846del (p.(Gln283_Gln286del)), RAI1(NM_030665.3):c.861_872delGCAGCAGCAGCA (p.Q288_Q291del), RAI1(NM_030665.4):c.861_872delG... - RAI1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.861_872del r.(?) p.(Gln288_Gln291del) - likely benign g.17697123_17697134del g.17793809_17793820del RAI1(NM_030665.3):c.835_846del (p.(Gln283_Gln286del)), RAI1(NM_030665.3):c.861_872delGCAGCAGCAGCA (p.Q288_Q291del), RAI1(NM_030665.4):c.861_872delG... - RAI1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.861_872dup r.(?) p.(Gln288_Gln291dup) - VUS g.17697123_17697134dup g.17793809_17793820dup RAI1(NM_030665.3):c.831_832insCAGCAGCAGCAG (p.(Asp277_Gln278insGlnGlnGlnGln)), RAI1(NM_030665.4):c.861_872dupGCAGCAGCAGCA (p.Q288_Q291dup) - RAI1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.861_872dup r.(?) p.(Gln288_Gln291dup) - likely benign g.17697123_17697134dup - RAI1(NM_030665.3):c.831_832insCAGCAGCAGCAG (p.(Asp277_Gln278insGlnGlnGlnGln)), RAI1(NM_030665.4):c.861_872dupGCAGCAGCAGCA (p.Q288_Q291dup) - RAI1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.864_872del r.(?) p.(Gln289_Gln291del) - benign g.17697126_17697134del g.17793812_17793820del RAI1(NM_030665.3):c.832_840del (p.(Gln281_Gln283del)), RAI1(NM_030665.3):c.864_872delGCAGCAGCA (p.Q289_Q291del), RAI1(NM_030665.4):c.864_872delGCAG... - RAI1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.864_872del r.(?) p.(Gln289_Gln291del) - VUS g.17697126_17697134del g.17793812_17793820del RAI1(NM_030665.3):c.832_840del (p.(Gln281_Gln283del)), RAI1(NM_030665.3):c.864_872delGCAGCAGCA (p.Q289_Q291del), RAI1(NM_030665.4):c.864_872delGCAG... - RAI1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.864_872del r.(?) p.(Gln289_Gln291del) - benign g.17697126_17697134del g.17793812_17793820del RAI1(NM_030665.3):c.832_840del (p.(Gln281_Gln283del)), RAI1(NM_030665.3):c.864_872delGCAGCAGCA (p.Q289_Q291del), RAI1(NM_030665.4):c.864_872delGCAG... - RAI1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.864_872del r.(?) p.(Gln289_Gln291del) - likely benign g.17697126_17697134del - RAI1(NM_030665.3):c.832_840del (p.(Gln281_Gln283del)), RAI1(NM_030665.3):c.864_872delGCAGCAGCA (p.Q289_Q291del), RAI1(NM_030665.4):c.864_872delGCAG... - RAI1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.867_872del r.(?) p.(Gln290_Gln291del) - VUS g.17697129_17697134del g.17793815_17793820del RAI1(NM_030665.3):c.838_843del (p.(Gln282_Gln283del)), RAI1(NM_030665.3):c.867_872delGCAGCA (p.Q290_Q291del), RAI1(NM_030665.4):c.867_872delGCAGCA ... - RAI1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.867_872del r.(?) p.(Gln290_Gln291del) - benign g.17697129_17697134del g.17793815_17793820del RAI1(NM_030665.3):c.838_843del (p.(Gln282_Gln283del)), RAI1(NM_030665.3):c.867_872delGCAGCA (p.Q290_Q291del), RAI1(NM_030665.4):c.867_872delGCAGCA ... - RAI1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.867_872del r.(?) p.(Gln290_Gln291del) - benign g.17697129_17697134del g.17793815_17793820del RAI1(NM_030665.3):c.838_843del (p.(Gln282_Gln283del)), RAI1(NM_030665.3):c.867_872delGCAGCA (p.Q290_Q291del), RAI1(NM_030665.4):c.867_872delGCAGCA ... - RAI1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.867_872del r.(?) p.(Gln290_Gln291del) - benign g.17697129_17697134del - RAI1(NM_030665.3):c.838_843del (p.(Gln282_Gln283del)), RAI1(NM_030665.3):c.867_872delGCAGCA (p.Q290_Q291del), RAI1(NM_030665.4):c.867_872delGCAGCA ... - RAI1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.867_872dup r.(?) p.(Gln290_Gln291dup) - VUS g.17697129_17697134dup g.17793815_17793820dup RAI1(NM_030665.3):c.831_832insCAGCAG (p.(Asp277_Gln278insGlnGln)), RAI1(NM_030665.4):c.867_872dupGCAGCA (p.Q290_Q291dup) - RAI1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.867_872dup r.(?) p.(Gln290_Gln291dup) - likely benign g.17697129_17697134dup - RAI1(NM_030665.3):c.831_832insCAGCAG (p.(Asp277_Gln278insGlnGln)), RAI1(NM_030665.4):c.867_872dupGCAGCA (p.Q290_Q291dup) - RAI1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.868C>T r.(?) p.(Gln290Ter) - pathogenic g.17697130C>T - - - RAI1_000170 - - - - Unknown - - - - - IMGAG
-/. 3 c.870_872del r.(?) p.(Gln291del) - benign g.17697132_17697134del g.17793818_17793820del - - RAI1_000008 - - - rs71944489 Germline - - - - - Andreas Laner
-/. - c.870_872del r.(?) p.(Gln291del) - benign g.17697132_17697134del g.17793818_17793820del RAI1(NM_030665.3):c.835_837del (p.(Gln281del)), RAI1(NM_030665.3):c.870_872delGCA (p.Q291del), RAI1(NM_030665.4):c.870_872delGCA (p.Q291del) - RAI1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.870_872del r.(?) p.(Gln291del) - likely benign g.17697132_17697134del g.17793818_17793820del RAI1(NM_030665.3):c.835_837del (p.(Gln281del)), RAI1(NM_030665.3):c.870_872delGCA (p.Q291del), RAI1(NM_030665.4):c.870_872delGCA (p.Q291del) - RAI1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.870_872del r.(?) p.(Gln291del) - benign g.17697132_17697134del g.17793818_17793820del RAI1(NM_030665.3):c.835_837del (p.(Gln281del)), RAI1(NM_030665.3):c.870_872delGCA (p.Q291del), RAI1(NM_030665.4):c.870_872delGCA (p.Q291del) - RAI1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.870_872del r.(?) p.(Gln291del) - VUS g.17697132_17697134del g.17793818_17793820del RAI1(NM_030665.3):c.835_837del (p.(Gln281del)), RAI1(NM_030665.3):c.870_872delGCA (p.Q291del), RAI1(NM_030665.4):c.870_872delGCA (p.Q291del) - RAI1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.870_872dup r.(?) p.(Gln291dup) - likely benign g.17697132_17697134dup g.17793818_17793820dup RAI1(NM_030665.3):c.832_834dup (p.?), RAI1(NM_030665.3):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665.4):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665...) - RAI1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.870_872dup r.(?) p.(Gln291dup) - VUS g.17697132_17697134dup g.17793818_17793820dup RAI1(NM_030665.3):c.832_834dup (p.?), RAI1(NM_030665.3):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665.4):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665...) - RAI1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.870_872dup r.(?) p.(Gln291dup) - likely benign g.17697132_17697134dup g.17793818_17793820dup RAI1(NM_030665.3):c.832_834dup (p.?), RAI1(NM_030665.3):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665.4):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665...) - RAI1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.870_872dup r.(?) p.(Gln291dup) - benign g.17697132_17697134dup g.17793818_17793820dup RAI1(NM_030665.3):c.832_834dup (p.?), RAI1(NM_030665.3):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665.4):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665...) - RAI1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.949C>T r.(?) p.(Gln317*) - likely pathogenic g.17697211C>T - RAI1(NM_030665.4):c.949C>T (p.Q317*) - RAI1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.952_967dup r.(?) p.(Gln323ArgfsTer71) - pathogenic g.17697214_17697229dup g.17793900_17793915dup RAI1(NM_030665.4):c.952_967dupGGCCAGGGCTACTGCC (p.Q323Rfs*71) - RAI1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.972G>A r.(?) p.(Pro324=) - likely benign g.17697234G>A g.17793920G>A RAI1(NM_030665.3):c.972G>A (p.P324=) - RAI1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 c.998_999insAGT r.(?) p.(Gln333_Tyr334insVal) - likely benign g.17697260_17697261insAGT g.17793946_17793947insAGT 17697260insAGT - RAI1_000005 - PubMed: Gilissen 2014 - - De novo - - - - - Johan den Dunnen
-?/. - c.1042C>T r.(?) p.(Arg348Cys) - likely benign g.17697304C>T - RAI1(NM_030665.3):c.1042C>T (p.(Arg348Cys)) - RAI1_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1082C>T r.(?) p.(Ser361Leu) - likely benign g.17697344C>T g.17794030C>T RAI1(NM_030665.3):c.1082C>T (p.S361L), RAI1(NM_030665.4):c.1082C>T (p.S361L) - RAI1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1082C>T r.(?) p.(Ser361Leu) - likely benign g.17697344C>T - RAI1(NM_030665.3):c.1082C>T (p.S361L), RAI1(NM_030665.4):c.1082C>T (p.S361L) - RAI1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1127C>T r.(?) p.(Pro376Leu) - VUS g.17697389C>T - RAI1(NM_030665.4):c.1127C>T (p.P376L) - RAI1_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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