Unique variants in the ARR3 gene

Information The variants shown are described using the NM_004312.2 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Reported     

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     
-/. 1 - c.27C>T r.(?) p.(Ser9=) - benign g.69489530C>T g.70269680C>T ARR3(NM_004312.2):c.27C>T (p.S9=) - ARR3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.100G>C r.(?) p.(Asp34His) - pathogenic (recessive) g.69489753G>C g.70269903G>C - - ARR3_000032 - PubMed: Liu 2020 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.146-154C>A r.(=) p.(=) - VUS g.69495778C>A g.70275928C>A - - ARR3_000008 - - - - Germline - - - - - Yu Sun
?/. 2 - c.146-115G>A r.(=) p.(=) - VUS g.69495817G>A g.70275967G>A - - ARR3_000009 - - - - Germline - - - - - Yu Sun
-/. 1 - c.209C>T r.(?) p.(Thr70Met) - benign g.69495995C>T g.70276145C>T - - ARR3_000033 - PubMed: Liu 2020 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.214C>T r.(?) p.(Arg72Ter) - pathogenic g.69496000C>T g.70276150C>T ARR3(NM_004312.2):c.214C>T (p.R72*) - ARR3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 1 c.239T>C r.(?) p.(Leu80Pro) - pathogenic (!) g.69496025T>C g.70276175T>C - - ARR3_000034 - PubMed: Xiao 2016 - - Germline yes - - - - Johan den Dunnen
+/. 1 1 c.298C>T r.(?) p.(Arg100*) - pathogenic (!) g.69496084C>T g.70276234C>T - - ARR3_000035 - PubMed: Xiao 2016 - - Germline yes - - - - Johan den Dunnen
?/. 2 - c.346-55T>C r.(=) p.(=) - VUS g.69496228T>C g.70276378T>C - - ARR3_000012 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.470A>G r.(?) p.(Lys157Arg) - likely benign g.69496583A>G g.70276733A>G ARR3(NM_004312.2):c.470A>G (p.(Lys157Arg)) - ARR3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.484C>T r.(?) p.(Arg162Trp) - VUS g.69497254C>T - ARR3(NM_004312.2):c.484C>T (p.R162W) - ARR3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.569C>G r.(?) p.(Ser190*) - pathogenic (!) g.69497339C>G g.70277489C>G - - ARR3_000031 inheritance X-linked complex - - - Germline yes - - - - Dejian Yuan
-?/. 1 - c.577C>T r.(?) p.(Pro193Ser) - likely benign g.69497347C>T g.70277497C>T ARR3(NM_004312.2):c.577C>T (p.P193S) - ARR3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.749T>C r.(?) p.(Val250Ala) - VUS g.69497970T>C g.70278120T>C ARR3(NM_004312.2):c.749T>C (p.(Val250Ala)) - ARR3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.767+1G>A r.spl? p.? - pathogenic g.69497989G>A g.70278139G>A ARR3(NM_004312.2):c.767+1G>A - ARR3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.844C>T r.(?) p.(Arg282Trp) - VUS g.69498430C>T g.70278580C>T ARR3(NM_004312.2):c.844C>T (p.R282W) - ARR3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.848del r.(?) p.(Gly283AlafsTer42) - pathogenic g.69498434del g.70278584del ARR3(NM_004312.2):c.848delG (p.G283Afs*42), ARR3(NM_004312.3):c.848delG (p.G283Afs*42) - ARR3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.869T>C r.(?) p.(Leu290Pro) - likely benign g.69498455T>C g.70278605T>C ARR3(NM_004312.2):c.869T>C (p.L290P) - ARR3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.890T>G r.(?) p.(Leu297Arg) - VUS g.69498476T>G - - - ARR3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.893C>A r.(?) p.(Ala298Asp) - pathogenic (!) g.69498479C>A g.70278629C>A - - ARR3_000036 - PubMed: Xiao 2016 - - Germline yes - - - - Johan den Dunnen
?/. 2 - c.896C>G r.(?) p.(Ser299Cys) - VUS g.69498482C>G g.70278632C>G - - ARR3_000004 - - - - Germline - - - - - Yu Sun
?/. 2 - c.905+205C>T r.(=) p.(=) - VUS g.69498696C>T g.70278846C>T - - ARR3_000001 - - - - Germline - - - - - Yu Sun
+/. 1 - c.989+1G>A r.spl p.? - pathogenic (recessive) g.69500129G>A g.70280279G>A - - ARR3_000037 - PubMed: Liu 2020 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1034C>A r.(?) p.(Pro345His) - VUS g.69500636C>A - - - ARR3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1052C>G r.(?) p.(Pro351Arg) - VUS g.69500654C>G - ARR3(NM_004312.2):c.1052C>G (p.P351R) - ARR3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1052C>T r.(?) p.(Pro351Leu) - VUS g.69500654C>T g.70280804C>T ARR3(NM_004312.2):c.1052C>T (p.P351L, p.(Pro351Leu)) - ARR3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 2 - c.1067-86dup r.(=) p.(=) - VUS g.69500863dup g.70281013dup - - ARR3_000003, ARR3_000015 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*582G>A r.(=) p.(=) - VUS g.69502198G>A g.70282348G>A RAB41(NM_001032726.2):c.124+7G>A (p.(=)) - RAB41_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*797T>C r.(=) p.(=) - VUS g.69502413T>C g.70282563T>C RAB41(NM_001032726.2):c.152T>C (p.M51T) - RAB41_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*1065G>T r.(=) p.(=) - VUS g.69502681G>T g.70282831G>T RAB41(NM_001032726.2):c.210G>T (p.(Lys70Asn)) - RAB41_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*1069A>G r.(=) p.(=) - VUS g.69502685A>G - RAB41(NM_001363807.1):c.217A>G (p.M73V) - ARR3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*1503T>C r.(=) p.(=) - VUS g.69503119T>C - RAB41(NM_001032726.2):c.236T>C (p.V79A) - ARR3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*1565A>T r.(=) p.(=) - VUS g.69503181A>T g.70283331A>T RAB41(NM_001032726.2):c.298A>T (p.(Ile100Phe)) - RAB41_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., ?/. 2 - c.*1605C>T r.(=) p.(=) - benign, VUS g.69503221C>T g.70283371C>T RAB41(NM_001032726.2):c.338C>T (p.T113I, p.(Thr113Ile)) - RAB41_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.*1791C>T r.(=) p.(=) - VUS g.69503407C>T g.70283557C>T RAB41(NM_001032726.2):c.385C>T (p.R129*) - ARR3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*1822T>C r.(=) p.(=) - VUS g.69503438T>C g.70283588T>C RAB41(NM_001032726.2):c.416T>C (p.M139T) - ARR3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*2833G>A r.(=) p.(=) - VUS g.69504449G>A g.70284599G>A RAB41(NM_001032726.2):c.622G>A (p.(Glu208Lys)) - RAB41_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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