All variants in the RAB27A gene

Information The variants shown are described using the NM_004580.4 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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.-22-18T>G r.(=) p.(=) - likely benign g.55527172A>C g.55234974A>C RAB27A(NM_004580.5):c.-22-18T>G - RAB27A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.11G>T r.(?) p.(Gly4Val) - VUS g.55527122C>A g.55234924C>A RAB27A(NM_004580.4):c.11G>T (p.G4V) - RAB27A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.58G>A r.(?) p.(Val20Ile) - VUS g.55527075C>T g.55234877C>T RAB27A(NM_004580.4):c.58G>A (p.V20I) - RAB27A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.153+16T>G r.(=) p.(=) - likely benign g.55526964A>C g.55234766A>C RAB27A(NM_004580.5):c.153+16T>G - RAB27A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.154-63G>A r.(=) p.(=) - benign g.55522747C>T g.55230549C>T RAB27A(NM_004580.5):c.154-63G>A - RAB27A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.172C>T r.(?) p.(Pro58Ser) - likely benign g.55522666G>A - RAB27A(NM_004580.5):c.172C>T (p.P58S) - RAB27A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.213G>T r.(?) p.(Gln71His) ACMG likely pathogenic (recessive) g.55522625C>A g.55230427C>A - - RAB27A_000030 Variant identified heterozygously in patient in combination with the truncating variant c.550C>T. Combined heterozygous state confirmed by identification of only one of the variants in the mother (father not available) - - - Germline - - - - - Dr. Michael Kutsche
+?/. 3 c.220G>C r.(?) p.(Asp74His) ACMG likely pathogenic g.55522618C>G g.55230420C>G - - RAB27A_000025 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - Johan den Dunnen
?/. - c.240-582G>T r.(=) p.(=) - VUS g.55521492C>A g.55229294C>A - - RAB27A_000001 - - - - Germline - - - - - Yu Sun
+/. - c.244C>T r.(?) p.(Arg82Cys) - pathogenic g.55520906G>A g.55228708G>A RAB27A(NM_004580.4):c.244C>T (p.R82C), RAB27A(NM_183235.1):c.244C>T (p.R82C) - RAB27A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.244C>T r.(?) p.(Arg82Cys) - likely pathogenic g.55520906G>A g.55228708G>A RAB27A(NM_004580.4):c.244C>T (p.R82C), RAB27A(NM_183235.1):c.244C>T (p.R82C) - RAB27A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.244C>T r.(?) p.(Arg82Cys) - VUS g.55520906G>A - RAB27A(NM_004580.4):c.244C>T (p.R82C), RAB27A(NM_183235.1):c.244C>T (p.R82C) - RAB27A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.259G>A r.(?) p.(Ala87Thr) - likely pathogenic g.55520891C>T - RAB27A(NM_004580.5):c.259G>A (p.A87T) - RAB27A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.259G>C r.(?) p.(Ala87Pro) - likely pathogenic g.55520891C>G g.55228693C>G RAB27A(NM_004580.4):c.259G>C (p.A87P), RAB27A(NM_004580.5):c.259G>C (p.A87P) - RAB27A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.259G>C r.(?) p.(Ala87Pro) - likely pathogenic g.55520891C>G - RAB27A(NM_004580.4):c.259G>C (p.A87P), RAB27A(NM_004580.5):c.259G>C (p.A87P) - RAB27A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.259G>C r.(?) p.(Ala87Pro) - pathogenic g.55520891C>G - RAB27A(NM_004580.4):c.259G>C (p.A87P), RAB27A(NM_004580.5):c.259G>C (p.A87P) - RAB27A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.277A>G r.(?) p.(Met93Val) - VUS g.55520873T>C - RAB27A(NM_004580.4):c.277A>G (p.M93V) - RAB27A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.294T>C r.(?) p.(Leu98=) - likely benign g.55520856A>G - RAB27A(NM_004580.5):c.294T>C (p.L98=) - RAB27A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.307A>G r.(?) p.(Asn103Asp) - VUS g.55520843T>C g.55228645T>C RAB27A(NM_004580.5):c.307A>G (p.N103D) - RAB27A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.337T>C r.(?) p.(Trp113Arg) - VUS g.55520813A>G - RAB27A(NM_004580.5):c.337T>C (p.W113R) - RAB27A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 4 c.340A>G r.(?) p.(Ile114Val) - VUS g.55520810T>C g.55228612T>C - - RAB27A_000022 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
?/. - c.418C>G r.(?) p.(Gln140Glu) - VUS g.55516136G>C g.55223938G>C RAB27A(NM_004580.5):c.418C>G (p.Q140E) - RAB27A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.418C>G r.(?) p.(Gln140Glu) - likely benign g.55516136G>C - RAB27A(NM_004580.5):c.418C>G (p.Q140E) - RAB27A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.449C>G r.(?) p.(Ala150Gly) - likely benign g.55516105G>C g.55223907G>C RAB27A(NM_004580.5):c.449C>G (p.A150G) - RAB27A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.467+64G>A r.(=) p.(=) - benign g.55516023C>T g.55223825C>T RAB27A(NM_004580.5):c.467+64G>A - RAB27A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.468-3C>T r.spl? p.? - likely benign g.55497906G>A g.55205708G>A RAB27A(NM_004580.5):c.468-3C>T - RAB27A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.514_518del r.(?) p.(Gln172AsnfsTer2) - pathogenic g.55497857_55497861del g.55205659_55205663del RAB27A(NM_004580.4):c.514_518delCAAGC (p.Q172Nfs*2) - RAB27A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.543A>G r.(?) p.(Ile181Met) - VUS g.55497828T>C - RAB27A(NM_004580.4):c.543A>G (p.I181M), RAB27A(NM_004580.5):c.543A>G (p.I181M) - RAB27A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.543A>G r.(?) p.(Ile181Met) - VUS g.55497828T>C - RAB27A(NM_004580.4):c.543A>G (p.I181M), RAB27A(NM_004580.5):c.543A>G (p.I181M) - RAB27A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.543A>G r.(?) p.(Ile181Met) - VUS g.55497828T>C - RAB27A(NM_004580.4):c.543A>G (p.I181M), RAB27A(NM_004580.5):c.543A>G (p.I181M) - RAB27A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.550C>T r.(?) p.(Arg184*) - pathogenic (recessive) g.55497821G>A g.55205623G>A - - RAB27A_000029 second mutation was c.213G>T; compound heterozygosity inferred after identifying c.550C>T heterozygously in the mother - - - Germline - - - - - Dr. Michael Kutsche
?/. - c.551G>A r.(?) p.(Arg184Gln) - VUS g.55497820C>T g.55205622C>T RAB27A(NM_004580.4):c.551G>A (p.R184Q) - RAB27A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.559C>T r.(?) p.(Arg187Trp) - VUS g.55497812G>A - RAB27A(NM_004580.4):c.559C>T (p.R187W), RAB27A(NM_004580.5):c.559C>T (p.R187W) - RAB27A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.559C>T r.(?) p.(Arg187Trp) - VUS g.55497812G>A - - - RAB27A_000020 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
?/. - c.559C>T r.(?) p.(Arg187Trp) - VUS g.55497812G>A - RAB27A(NM_004580.4):c.559C>T (p.R187W), RAB27A(NM_004580.5):c.559C>T (p.R187W) - RAB27A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.559C>T r.(?) p.(Arg187Trp) - likely benign g.55497812G>A - RAB27A(NM_004580.4):c.559C>T (p.R187W), RAB27A(NM_004580.5):c.559C>T (p.R187W) - RAB27A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.594G>A r.(?) p.(Val198=) - likely benign g.55497777C>T g.55205579C>T RAB27A(NM_004580.4):c.594G>A (p.(Val198=)), RAB27A(NM_004580.5):c.594G>A (p.V198=) - RAB27A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.594G>A r.(?) p.(Val198=) - benign g.55497777C>T - RAB27A(NM_004580.4):c.594G>A (p.(Val198=)), RAB27A(NM_004580.5):c.594G>A (p.V198=) - RAB27A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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