Full data view for gene UBA1

Information The variants shown are described using the NM_003334.3 transcript reference sequence.

114 entries on 2 pages. Showing entries 1 - 100.
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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.-7748C>T r.(?) p.(=) Unknown - VUS g.47045676C>T - RBM10(NM_001204468.1):c.2752C>T (p.R918W) - UBA1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-7647G>A r.(?) p.(=) Unknown - likely benign g.47045777G>A - RBM10(NM_001204468.1):c.2853G>A (p.T951=) - UBA1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1-555A>G r.(=) p.(=) Unknown - benign g.47057647A>G g.47198248A>G UBA1(NM_003334.4):c.1-555A>G - UBA1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.121A>C r.(?) p.(Met41Leu) Unknown - pathogenic (!) g.47058450A>C g.47199051A>C - - UBA1_000069 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat7 PubMed: Beck 2020 - M - - - 70y 0 - see paper 1 Johan den Dunnen
+/. 3 c.121A>C r.(?) p.(Met41Leu) Unknown - pathogenic (!) g.47058450A>C g.47199051A>C - - UBA1_000069 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat14 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.121A>C r.(?) p.(Met41Leu) Unknown - pathogenic (!) g.47058450A>C g.47199051A>C - - UBA1_000069 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat15 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.121A>C r.(?) p.(Met41Leu) Unknown - pathogenic (!) g.47058450A>C g.47199051A>C - - UBA1_000069 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat19 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.121A>C r.(?) p.(Met41Leu) Unknown - pathogenic (!) g.47058450A>C g.47199051A>C - - UBA1_000069 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat22 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. - c.121A>C r.(?) p.(Met41Leu) Unknown - pathogenic g.47058450A>C - UBA1(NM_003334.4):c.121A>C (p.M41L) - UBA1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.121A>G r.(?) p.(Met41Val) Unknown - pathogenic (!) g.47058450A>G g.47199051A>G - - UBA1_000068 somatic mosaicism; variant absent from fibroblasts PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG blood WES ? Pat2 PubMed: Beck 2020 - M - United States - 61y 0 - see paper 1 Johan den Dunnen
+/. 3 c.121A>G r.(?) p.(Met41Val) Unknown - pathogenic (!) g.47058450A>G g.47199051A>G - - UBA1_000068 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ - - ? Pat4 PubMed: Beck 2020 - M - United States - 64y 0 - see paper 1 Johan den Dunnen
+/. 3 c.121A>G r.(?) p.(Met41Val) Unknown - pathogenic (!) g.47058450A>G g.47199051A>G - - UBA1_000068 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat6 PubMed: Beck 2020 - M - United States - 67y 0 - see paper 1 Johan den Dunnen
+/. 3 c.121A>G r.(?) p.(Met41Val) Unknown - pathogenic (!) g.47058450A>G g.47199051A>G - - UBA1_000068 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat12 PubMed: Beck 2020 - M - - - 61y 0 - see paper 1 Johan den Dunnen
+/. 3 c.121A>G r.(?) p.(Met41Val) Unknown - pathogenic (!) g.47058450A>G g.47199051A>G - - UBA1_000068 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat25 PubMed: Beck 2020 - M - - - 78y 0 - see paper 1 Johan den Dunnen
+/. - c.121A>G r.(?) p.(Met41Val) Unknown - pathogenic g.47058450A>G - - - UBA1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism; variant absent from fibroblasts PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG blood WES ? Pat1 PubMed: Beck 2020 - M - United States - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism; variant absent from fibroblasts PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG blood WES ? Pat3 PubMed: Beck 2020 - M - United States - 76y 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ - - ? Pat5 PubMed: Beck 2020 - M - United States - 60y 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat8 PubMed: Beck 2020 - M - - - 73y 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat9 PubMed: Beck 2020 - M - - - 84y 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat10 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat11 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat13 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat16 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat17 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat18 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat20 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat21 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat23 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat24 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. - c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic g.47058451T>C - UBA1(NM_003334.4):c.122T>C (p.M41T) - UBA1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic g.47058451T>C - UBA1(NM_003334.4):c.122T>C (p.M41T) - UBA1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic g.47058451T>C - UBA1(NM_003334.4):c.122T>C (p.M41T) - UBA1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147C>T r.(?) p.(Asp49=) Unknown - likely benign g.47058476C>T - UBA1(NM_003334.4):c.147C>T (p.D49=) - UBA1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.153C>T r.(?) p.(Asp51=) Unknown - likely benign g.47058482C>T g.47199083C>T UBA1(NM_003334.4):c.153C>T (p.D51=) - UBA1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.176+13A>G r.(=) p.(=) Maternal (inferred) - VUS g.47058518A>G g.47199119A>G - - UBA1_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.176+13A>G r.(=) p.(=) Maternal (inferred) - VUS g.47058518A>G g.47199119A>G - - UBA1_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.206G>A r.(?) p.(Arg69Gln) Unknown - likely benign g.47058637G>A g.47199238G>A UBA1(NM_003334.4):c.206G>A (p.R69Q) - UBA1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.334C>T r.(?) p.(Leu112Phe) Unknown - VUS g.47058765C>T - UBA1(NM_003334.4):c.334C>T (p.L112F) - UBA1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.334C>T r.(?) p.(Leu112Phe) Unknown - VUS g.47058765C>T g.47199366C>T - - UBA1_000066 - MDCRC 2021, submitted - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - screened DMD, SGCB, UBA1 DMD MDCRC/0802/DBI-712 MDCRC 2021, submitted - M yes India - - 0 yes - 1 Lakshmi Bremadesam
-?/. - c.453C>T r.(?) p.(Leu151=) Unknown - likely benign g.47058986C>T - UBA1(NM_003334.4):c.453C>T (p.L151=) - UBA1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.480+344dup r.(=) p.(=) Unknown - VUS g.47059357dup g.47199958dup - - UBA1_000024 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 6 c.488T>C c.(488u>c) p.(Val163Ala) Unknown - VUS g.47060300T>C g.47200901T>C - - UBA1_000050 - - - - Germline - - - 0 - DNA arraySEQ - - autism - - - - no Italy - - 0 - - 1 Gerarda Cappuccio
?/. - c.574C>T r.(?) p.(Arg192Trp) Unknown - VUS g.47060386C>T g.47200987C>T UBA1(NM_003334.4):c.574C>T (p.R192W) - UBA1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.575G>A r.(?) p.(Arg192Gln) Unknown - VUS g.47060387G>A g.47200988G>A UBA1(NM_003334.4):c.575G>A (p.R192Q) - UBA1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.622C>T r.(?) p.(Leu208Phe) Unknown - VUS g.47060709C>T g.47201310C>T UBA1(NM_003334.4):c.622C>T (p.L208F) - UBA1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.648A>G r.(?) p.(Pro216=) Unknown - likely benign g.47060735A>G g.47201336A>G UBA1(NM_003334.4):c.648A>G (p.P216=) - UBA1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.649C>T r.(?) p.(Leu217Phe) Unknown - likely benign g.47060736C>T g.47201337C>T UBA1(NM_003334.4):c.649C>T (p.L217F) - UBA1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.679-33C>G r.(=) p.(=) Maternal (inferred) - VUS g.47060844C>G g.47201445C>G - - UBA1_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.679-33C>G r.(=) p.(=) Maternal (inferred) - VUS g.47060844C>G g.47201445C>G - - UBA1_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.679-33C>G r.(=) p.(=) Parent #1 - benign g.47060844C>G g.47201445C>G - - UBA1_000011 - - - rs4239963 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.679-33C>G r.(=) p.(=) Unknown - likely benign g.47060844C>G - UBA1(NM_003334.4):c.679-33C>G - UBA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.732C>T r.(?) p.(Ser244=) Unknown - likely benign g.47060930C>T g.47201531C>T UBA1(NM_003334.4):c.732C>T (p.S244=) - UBA1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.811+9C>G r.(=) p.(=) Maternal (inferred) - VUS g.47061018C>G g.47201619C>G - - UBA1_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.811+9C>G r.(=) p.(=) Maternal (inferred) - VUS g.47061018C>G g.47201619C>G - - UBA1_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.811+9C>G r.(=) p.(=) Unknown - benign g.47061018C>G g.47201619C>G UBA1(NM_003334.4):c.811+9C>G - UBA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.811+9C>G r.(=) p.(=) Unknown - benign g.47061018C>G g.47201619C>G UBA1(NM_003334.4):c.811+9C>G - UBA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.811+9C>G r.(=) p.(=) Unknown - benign g.47061018C>G g.47201619C>G - - UBA1_000014 - - - rs4239964 Unknown ? 0.99 controls - 0 - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - 0 yes none 1 Florian Erger
?/. - c.851C>G r.(?) p.(Ser284Cys) Unknown - VUS g.47061594C>G g.47202195C>G UBA1(NM_003334.4):c.851C>G (p.S284C) - UBA1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.903T>G r.(?) p.(Ile301Met) Unknown - VUS g.47061646T>G g.47202247T>G UBA1(NM_003334.4):c.903T>G (p.I301M) - UBA1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.910-19A>C r.(=) p.(=) Unknown - likely benign g.47061738A>C g.47202339A>C UBA1(NM_003334.4):c.910-19A>C - UBA1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.954G>A r.(?) p.(Thr318=) Unknown - likely benign g.47061801G>A g.47202402G>A UBA1(NM_003334.4):c.954G>A (p.T318=) - UBA1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.965A>G r.(?) p.(Lys322Arg) Unknown - likely benign g.47061812A>G g.47202413A>G UBA1(NM_003334.4):c.965A>G (p.K322R) - UBA1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1014G>C r.(?) p.(Gln338His) Unknown - VUS g.47061861G>C - UBA1(NM_003334.4):c.1014G>C (p.Q338H) - UBA1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1042C>T r.(?) p.(Arg348Trp) Unknown - VUS g.47061889C>T - UBA1(NM_003334.4):c.1042C>T (p.R348W) - UBA1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1057-56del r.(=) p.(=) Maternal (inferred) - VUS g.47061981del g.47202582del - - UBA1_000025 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1057-56del r.(=) p.(=) Maternal (inferred) - VUS g.47061981del g.47202582del - - UBA1_000025 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1057-53del r.(=) p.(=) Maternal (inferred) - VUS g.47061984del g.47202585del - - UBA1_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1057-53del r.(=) p.(=) Maternal (inferred) - VUS g.47061984del g.47202585del - - UBA1_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1077A>C r.(?) p.(Val359=) Unknown - likely benign g.47062057A>C g.47202658A>C UBA1(NM_003334.4):c.1077A>C (p.V359=) - UBA1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1137C>T r.(?) p.(Asp379=) Unknown - likely benign g.47062117C>T g.47202718C>T UBA1(NM_003334.4):c.1137C>T (p.D379=) - UBA1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1149C>T r.(?) p.(Ile383=) Unknown - likely benign g.47062129C>T - UBA1(NM_003334.4):c.1149C>T (p.I383=) - UBA1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 13 c.1242C>T r.(?) p.(=) Parent #1 - VUS g.47062350C>T g.47202951C>T S414S - UBA1_000048 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1242C>T r.(?) p.(Ser414=) Unknown - likely benign g.47062350C>T - UBA1(NM_003334.4):c.1242C>T (p.S414=) - UBA1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 13 c.1296C>T r.(?) p.(=) Parent #1 - VUS g.47062404C>T g.47203005C>T L432L - UBA1_000049 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.1296C>T r.(?) p.(Leu432=) Unknown - likely benign g.47062404C>T - UBA1(NM_003334.4):c.1296C>T (p.L432=) - UBA1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1340G>A r.(?) p.(Arg447His) Maternal (inferred) - VUS g.47062534G>A g.47203135G>A - - UBA1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1340G>A r.(?) p.(Arg447His) Maternal (inferred) - VUS g.47062534G>A g.47203135G>A - - UBA1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.1340G>A r.(?) p.(Arg447His) Parent #1 - benign g.47062534G>A g.47203135G>A - - UBA1_000003 - - - rs2070169 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.1340G>A r.(?) p.(Arg447His) Unknown - benign g.47062534G>A g.47203135G>A UBA1(NM_003334.4):c.1340G>A (p.R447H) - UBA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1340G>A r.(?) p.(Arg447His) Unknown - benign g.47062534G>A g.47203135G>A - - UBA1_000003 - - - rs2070169 Unknown ? 0.1 controls - 0 - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - 0 yes none 1 Florian Erger
-?/. - c.1486G>A r.(?) p.(Glu496Lys) Unknown - likely benign g.47063006G>A g.47203607G>A UBA1(NM_003334.4):c.1486G>A (p.E496K) - UBA1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1486G>A r.(?) p.(Glu496Lys) Unknown - likely benign g.47063006G>A g.47203607G>A UBA1(NM_003334.4):c.1486G>A (p.E496K) - UBA1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1575G>A r.(?) p.(Thr525=) Unknown - VUS g.47063095G>A - UBA1(NM_003334.4):c.1575G>A (p.T525=) - UBA1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1575+67_1575+68dup r.(=) p.(=) Unknown - VUS g.47063162_47063163dup g.47203763_47203764dup - - UBA1_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1575+68dup r.(=) p.(=) Unknown - VUS g.47063163dup g.47203764dup - - UBA1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1576-161G>A r.(=) p.(=) Maternal (inferred) - VUS g.47065186G>A g.47205787G>A - - UBA1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1576-161G>A r.(=) p.(=) Maternal (inferred) - VUS g.47065186G>A g.47205787G>A - - UBA1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1610G>A r.(?) p.(Arg537His) Unknown - likely benign g.47065381G>A - UBA1(NM_003334.4):c.1610G>A (p.R537H) - UBA1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1630C>T r.(?) p.(Arg544Trp) Unknown - VUS g.47065401C>T g.47206002C>T UBA1(NM_003334.4):c.1630C>T (p.R544W) - UBA1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1702C>G r.(?) p.(Leu568Val) Unknown - likely benign g.47065473C>G g.47206074C>G UBA1(NM_003334.3):c.1702C>G (p.(Leu568Val)), UBA1(NM_003334.4):c.1702C>G (p.L568V) - UBA1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1702C>G r.(?) p.(Leu568Val) Unknown - benign g.47065473C>G g.47206074C>G UBA1(NM_003334.3):c.1702C>G (p.(Leu568Val)), UBA1(NM_003334.4):c.1702C>G (p.L568V) - UBA1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1702C>G r.(?) p.(Leu568Val) Parent #1 - benign g.47065473C>G g.47206074C>G - - UBA1_000037 12 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150574055 Germline - 12/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 12 Mohammed Faruq
-/. - c.1702C>G r.(?) p.(Leu568Val) Unknown - benign g.47065473C>G g.47206074C>G - - UBA1_000037 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150574055 Germline - 8/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 8 Mohammed Faruq
+/. - c.1731C>T r.(=) p.(=) Parent #1 - pathogenic g.47065502C>T g.47206103C>T - - UBA1_000026 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. - c.1731C>T r.(=) p.(=) Unknown - likely pathogenic g.47065502C>T g.47206103C>T - - UBA1_000026 - - - - Somatic - - - 0 - DNA SEQ - - SMAX2 - - - - ? - - - 0 - - 1 Alfons Meindl
-/. - c.1742-18G>A r.(=) p.(=) Unknown - benign g.47065629G>A g.47206230G>A UBA1(NM_003334.4):c.1742-18G>A - UBA1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1742-11G>C r.(=) p.(=) Unknown - benign g.47065636G>C g.47206237G>C UBA1(NM_003334.4):c.1742-11G>C - UBA1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1791G>A r.(?) p.(Glu597=) Unknown - likely benign g.47065696G>A g.47206297G>A UBA1(NM_003334.4):c.1791G>A (p.E597=) - UBA1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2004-13C>T r.(=) p.(=) Unknown - benign g.47069314C>T g.47209915C>T UBA1(NM_003334.4):c.2004-13C>T - UBA1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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