All variants in the ARL13B gene

Information The variants shown are described using the NM_182896.2 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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.-182674_*2240079del r.0? p.0? - likely pathogenic g.93516594_96012342del - chr3:g.93516594_96012342del - ARL13B_000040 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - 0 - LOVD
?/. - c.5T>G r.(?) p.(Phe2Cys) - VUS g.93699272T>G g.93980428T>G ARL13B(NM_001174150.1):c.5T>G (p.(Phe2Cys)) - ARL13B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.57_59+16dup r.spl p.(?) ACMG VUS g.93699324_93699342dup g.93980480_93980498dup ARL13B, c.57_59+16dupCAGGTAGGCTGGAGCCAGC, , homozygous - ARL13B_000041 - PubMed: Perea-Romero 2021 - - Unknown ? - - 0 - LOVD
?/. - c.60-7621dup r.(=) p.(=) - VUS g.93707097dup g.93988253dup - - ARL13B_000003 - - - - Germline - - - - - Yu Sun
?/. - c.60-7088del r.(=) p.(=) - VUS g.93707630del g.93988786del - - ARL13B_000001 - - - - Germline - - - - - Yu Sun
?/. - c.60-7088del r.(=) p.(=) - VUS g.93707630del g.93988786del - - ARL13B_000001 - - - - Germline - - - - - Yu Sun
+/. - c.65T>G r.(?) p.(Val22Gly) - pathogenic g.93714723T>G g.93995879T>G NM_182896.2:c.65T>G - ARL13B_000033 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
-?/. - c.105C>T r.(?) p.(Thr35=) - likely benign g.93714763C>T g.93995919C>T ARL13B(NM_182896.2):c.105C>T (p.T35=), ARL13B(NM_182896.3):c.105C>T (p.T35=) - ARL13B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.105C>T r.(?) p.(Thr35=) - benign g.93714763C>T g.93995919C>T ARL13B(NM_182896.2):c.105C>T (p.T35=), ARL13B(NM_182896.3):c.105C>T (p.T35=) - ARL13B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.106G>A r.(?) p.(Ala36Thr) - likely benign g.93714764G>A g.93995920G>A ARL13B(NM_001174150.1):c.106G>A (p.A36T, p.(Ala36Thr)) - ARL13B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.106G>A r.(?) p.(Ala36Thr) - VUS g.93714764G>A - ARL13B(NM_001174150.1):c.106G>A (p.A36T, p.(Ala36Thr)) - ARL13B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.130+663G>A r.(=) p.(=) - VUS g.93715451G>A - ARL13B(NM_001321328.1):c.8G>A (p.S3N) - ARL13B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.130+726G>A r.(=) p.(=) - VUS g.93715514G>A - ARL13B(NM_001321328.1):c.71G>A (p.R24H) - ARL13B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 c.223G>A r.(?) p.(Gly75Arg) - pathogenic g.93722595G>A g.94003751G>A - - ARL13B_000005 - - - - Germline yes - - 0 - Rafiullah Rafiullah
+/. 3 c.223G>A r.(?) p.(Gly75Arg) - pathogenic g.93722595G>A g.94003751G>A - - ARL13B_000005 - - - - Germline yes - - 0 - Rafiullah Rafiullah
?/. - c.236G>A r.(?) p.(Arg79Gln) - VUS g.93722608G>A - ARL13B(NM_001174150.1):c.236G>A (p.R79Q) - ARL13B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.246G>A r.(?) p.(Trp82*) - pathogenic g.93722618G>A g.94003774G>A NM_182896.2:c.246G>A - ARL13B_000034 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+/. 3 c.257A>G r.(?) p.(Tyr86Cys) - pathogenic g.93722629A>G g.94003785A>G - - ARL13B_000004 - Thomas et al., EJHG, 2014, submitted - - Unknown yes - - 0 - Tania Attie-Bitach
?/. - c.308G>T r.(?) p.(Arg103Ile) - VUS g.93722680G>T g.94003836G>T - - ARL13B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.461A>G r.(?) p.(Asn154Ser) - pathogenic g.93754255A>G g.94035411A>G NM_182896.2:c.461A>G - ARL13B_000035 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
-/. - c.486+22del r.(=) p.(=) - benign g.93754302del g.94035458del ARL13B(NM_001174150.1):c.486+22delT - ARL13B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.486+22dup r.(=) p.(=) - benign g.93754302dup g.94035458dup ARL13B(NM_001174150.1):c.486+22dupT - ARL13B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.502A>G r.(?) p.(Ile168Val) - VUS g.93755411A>G g.94036567A>G ARL13B(NM_001174150.1):c.502A>G (p.(Ile168Val)) - ARL13B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.507G>A r.(?) p.(Ser169=) - likely benign g.93755416G>A - ARL13B(NM_001174150.1):c.507G>A (p.S169=) - ARL13B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.568A>G r.(?) p.(Ile190Val) - likely pathogenic g.93755477A>G g.94036633A>G ARL13B/JBTS8 c.259A>G, p.Ile87Val - ARL13B_000042 different transcript: NM_001174151.1(ARL13B):c.259A>G, p.(Ile87Val); single heterozygous variant in a recessive disease; no second causative allele found PubMed: Kang 2016 - - Unknown ? - - 0 - LOVD
+/. - c.598C>T r.(?) p.(Arg200Cys) - pathogenic g.93755507C>T g.94036663C>T NM_182896.2:c.598C>T - ARL13B_000036 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
?/. - c.599G>A r.(?) p.(Arg200His) - VUS g.93755508G>A g.94036664G>A - - ARL13B_000031 - PubMed: Riazuddin 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.668dup r.(?) p.(Arg224AlafsTer11) - pathogenic g.93755577dup g.94036733dup ARL13B(NM_001174150.1):c.668dupT (p.R224Afs*11) - ARL13B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.762_765dup r.(?) p.(Pro256GlufsTer12) - VUS g.93758796_93758799dup g.94039952_94039955dup ARL13B(NM_001174150.1):c.762_765dupGAAT (p.P256Efs*12) - ARL13B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.831C>A r.(?) p.(Asn277Lys) - likely benign g.93761891C>A g.94043047C>A ARL13B(NM_001174150.1):c.831C>A (p.N277K) - ARL13B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.896A>C r.(?) p.(Glu299Ala) - VUS g.93761956A>C g.94043112A>C ARL13B(NM_001174150.1):c.896A>C (p.E299A, p.(Glu299Ala)) - ARL13B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.896A>C r.(?) p.(Glu299Ala) - likely benign g.93761956A>C g.94043112A>C ARL13B(NM_001174150.1):c.896A>C (p.E299A, p.(Glu299Ala)) - ARL13B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1024+1G>A r.spl? p.? - pathogenic g.93762085G>A - ARL13B(NM_001321328.2):c.979+1G>A - ARL13B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1024+10C>G r.(=) p.(=) - likely benign g.93762094C>G g.94043250C>G ARL13B(NM_001174150.1):c.1024+10C>G - ARL13B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1043C>G r.(?) p.(Thr348Ser) - benign g.93768268C>G g.94049424C>G ARL13B(NM_001174150.2):c.1043C>G (p.T348S), ARL13B(NM_182896.2):c.1043C>G (p.T348S) - ARL13B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1043C>G r.(?) p.(Thr348Ser) - benign g.93768268C>G g.94049424C>G ARL13B(NM_001174150.2):c.1043C>G (p.T348S), ARL13B(NM_182896.2):c.1043C>G (p.T348S) - ARL13B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1122A>C r.(?) p.(Pro374=) - likely benign g.93768347A>C g.94049503A>C ARL13B(NM_001174150.1):c.1122A>C (p.P374=) - ARL13B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1128A>C r.(?) p.(Pro376=) - likely benign g.93768353A>C g.94049509A>C ARL13B(NM_001174150.1):c.1128A>C (p.P376=) - ARL13B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1141+65del r.(=) p.(=) - benign g.93768431del g.94049587del ARL13B(NM_001174150.2):c.1141+65delA - ARL13B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1142T>G r.(?) p.(Val381Gly) - VUS g.93769668T>G g.94050824T>G ARL13B(NM_001174150.1):c.1142T>G (p.(Val381Gly)) - ARL13B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1151G>A r.(?) p.(Gly384Glu) - VUS g.93769677G>A g.94050833G>A - - ARL13B_000037 - PubMed: Kroes 2016 - - Germline - - - 0 - LOVD
-?/. - c.1151G>A r.(?) p.(Gly384Glu) - likely benign g.93769677G>A - ARL13B(NM_001174150.1):c.1151G>A (p.G384E) - ARL13B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 9 c.1169G>A r.(?) p.(Arg390Lys) - pathogenic g.93769695G>A - c.1169G/A - ARL13B_000038 - PubMed: Otto 2011 - - Germline - - - 0 - LOVD
-?/. - c.1186C>G r.(?) p.(Pro396Ala) - likely benign g.93769712C>G g.94050868C>G ARL13B(NM_001174150.1):c.1186C>G (p.P396A) - ARL13B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1186C>G r.(?) p.(Pro396Ala) - VUS g.93769712C>G g.94050868C>G - - ARL13B_000026 heterozygous variant only, does not fit phenotype PubMed: Arno 2017 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1186C>G r.(?) p.(Pro396Ala) - VUS g.93769712C>G g.94050868C>G - - ARL13B_000026 - PubMed: Kroes 2016 - - Germline - - - 0 - LOVD
-/. - c.1210+12G>C r.(=) p.(=) - benign g.93769748G>C g.94050904G>C ARL13B(NM_182896.3):c.1210+12G>C - ARL13B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
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