Full data view for gene TSEN54

Information The variants shown are described using the NM_207346.2 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.1A>T r.(?) p.(Met1?) Unknown - likely pathogenic g.73512642A>T g.75516561A>T TSEN54(NM_207346.3):c.1A>T (p.M1?) - KIAA0195_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3_8dup r.(?) p.(Met1?) Unknown - VUS g.73512644_73512649dup g.75516563_75516568dup TSEN54(NM_207346.2):c.2_3insGGAGCC (p.(Met1_Glu2insGluPro)), TSEN54(NM_207346.2):c.3_8dupGGAGCC (p.E6_P7dup), TSEN54(NM_207346.3):c.3_8dupGGAGCC ...) - TSEN54_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3_8dup r.(?) p.(Met1?) Unknown - VUS g.73512644_73512649dup g.75516563_75516568dup TSEN54(NM_207346.2):c.2_3insGGAGCC (p.(Met1_Glu2insGluPro)), TSEN54(NM_207346.2):c.3_8dupGGAGCC (p.E6_P7dup), TSEN54(NM_207346.3):c.3_8dupGGAGCC ...) - TSEN54_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3_8dup r.(?) p.(Met1?) Unknown - benign g.73512644_73512649dup g.75516563_75516568dup TSEN54(NM_207346.2):c.2_3insGGAGCC (p.(Met1_Glu2insGluPro)), TSEN54(NM_207346.2):c.3_8dupGGAGCC (p.E6_P7dup), TSEN54(NM_207346.3):c.3_8dupGGAGCC ...) - TSEN54_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.12G>T r.(?) p.(Glu4Asp) Unknown - benign g.73512653G>T g.75516572G>T TSEN54(NM_207346.3):c.12G>T (p.E4D) - TSEN54_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.12G>T r.(?) p.(Glu4Asp) Unknown - benign g.73512653G>T g.75516572G>T TSEN54(NM_207346.3):c.12G>T (p.E4D) - TSEN54_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.12G>T r.(?) p.(Glu4Asp) Unknown - benign g.73512653G>T - TSEN54(NM_207346.3):c.12G>T (p.E4D) - TSEN54_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45G>T r.(?) p.(Gly15=) Unknown - likely benign g.73512686G>T - TSEN54(NM_207346.2):c.45G>T (p.G15=) - KIAA0195_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.83C>T r.(?) p.(Ser28Leu) Unknown - VUS g.73512853C>T g.75516772C>T TSEN54(NM_207346.2):c.83C>T (p.S28L), TSEN54(NM_207346.3):c.83C>T (p.S28L) - TSEN54_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.83C>T r.(?) p.(Ser28Leu) Unknown - VUS g.73512853C>T - TSEN54(NM_207346.2):c.83C>T (p.S28L), TSEN54(NM_207346.3):c.83C>T (p.S28L) - TSEN54_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.114T>G r.(?) p.(His38Gln) Unknown - benign g.73512884T>G g.75516803T>G TSEN54(NM_207346.2):c.114T>G (p.H38Q), TSEN54(NM_207346.3):c.114T>G (p.H38Q) - TSEN54_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.114T>G r.(?) p.(His38Gln) Unknown - benign g.73512884T>G g.75516803T>G TSEN54(NM_207346.2):c.114T>G (p.H38Q), TSEN54(NM_207346.3):c.114T>G (p.H38Q) - TSEN54_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.114T>G r.(?) p.(His38Gln) Unknown - benign g.73512884T>G g.75516803T>G TSEN54(NM_207346.2):c.114T>G (p.H38Q), TSEN54(NM_207346.3):c.114T>G (p.H38Q) - TSEN54_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.143C>T r.(?) p.(Ser48Leu) Unknown - VUS g.73512913C>T g.75516832C>T TSEN54(NM_207346.2):c.143C>T (p.(Ser48Leu)) - KIAA0195_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165G>C r.(?) p.(Leu55=) Unknown - likely benign g.73512935G>C g.75516854G>C TSEN54(NM_207346.2):c.165G>C (p.L55=) - TSEN54_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.215A>C r.(?) p.(Glu72Ala) Unknown - VUS g.73512985A>C - TSEN54(NM_207346.3):c.215A>C (p.E72A) - KIAA0195_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.221+17C>T r.(=) p.(=) Unknown - likely benign g.73513008C>T g.75516927C>T TSEN54(NM_207346.2):c.221+17C>T - TSEN54_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.221+23T>G r.(=) p.(=) Unknown - benign g.73513014T>G g.75516933T>G TSEN54(NM_207346.2):c.221+23T>G - TSEN54_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.222-18C>T r.(=) p.(=) Unknown - benign g.73513072C>T g.75516991C>T TSEN54(NM_207346.2):c.222-18C>T, TSEN54(NM_207346.3):c.222-18C>T - TSEN54_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.222-18C>T r.(=) p.(=) Unknown - benign g.73513072C>T g.75516991C>T TSEN54(NM_207346.2):c.222-18C>T, TSEN54(NM_207346.3):c.222-18C>T - TSEN54_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.285+3G>A r.spl? p.? Unknown - benign g.73513156G>A g.75517075G>A TSEN54(NM_207346.2):c.285+3G>A, TSEN54(NM_207346.3):c.285+3G>A - TSEN54_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.285+3G>A r.spl? p.? Unknown - benign g.73513156G>A g.75517075G>A TSEN54(NM_207346.2):c.285+3G>A, TSEN54(NM_207346.3):c.285+3G>A - TSEN54_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.285+32C>A r.(=) p.(=) Unknown - benign g.73513185C>A g.75517104C>A TSEN54(NM_207346.2):c.285+32C>A, TSEN54(NM_207346.3):c.285+32C>A - KIAA0195_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.285+32C>A r.(=) p.(=) Unknown - benign g.73513185C>A g.75517104C>A TSEN54(NM_207346.2):c.285+32C>A, TSEN54(NM_207346.3):c.285+32C>A - KIAA0195_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.333C>G r.(?) p.(Arg111=) Unknown - benign g.73513289C>G g.75517208C>G TSEN54(NM_207346.2):c.333C>G (p.R111=), TSEN54(NM_207346.3):c.333C>G (p.R111=) - KIAA0195_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.333C>G r.(?) p.(Arg111=) Unknown - benign g.73513289C>G g.75517208C>G TSEN54(NM_207346.2):c.333C>G (p.R111=), TSEN54(NM_207346.3):c.333C>G (p.R111=) - KIAA0195_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.370-19C>A r.(=) p.(=) Unknown - benign g.73513619C>A g.75517538C>A TSEN54(NM_207346.2):c.370-19C>A, TSEN54(NM_207346.3):c.370-19C>A - KIAA0195_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.370-19C>A r.(=) p.(=) Unknown - benign g.73513619C>A g.75517538C>A TSEN54(NM_207346.2):c.370-19C>A, TSEN54(NM_207346.3):c.370-19C>A - KIAA0195_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.370-19C>A r.(=) p.(=) Unknown - benign g.73513619C>A g.75517538C>A TSEN54(NM_207346.2):c.370-19C>A, TSEN54(NM_207346.3):c.370-19C>A - KIAA0195_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.371G>T r.(?) p.(Gly124Val) Both (homozygous) ACMG likely pathogenic (recessive) g.73513639G>T g.75517558G>T - - TSEN54_000036 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M039 PubMed: Hu 2019 family, 2 affected individuals - - - Kurd - - - - 2 Johan den Dunnen
-/. - c.409A>C r.(?) p.(Ile137Leu) Unknown - benign g.73513677A>C g.75517596A>C TSEN54(NM_207346.2):c.409A>C (p.I137L), TSEN54(NM_207346.3):c.409A>C (p.I137L) - TSEN54_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.409A>C r.(?) p.(Ile137Leu) Unknown - benign g.73513677A>C g.75517596A>C TSEN54(NM_207346.2):c.409A>C (p.I137L), TSEN54(NM_207346.3):c.409A>C (p.I137L) - TSEN54_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.409A>C r.(?) p.(Ile137Leu) Unknown - benign g.73513677A>C g.75517596A>C TSEN54(NM_207346.2):c.409A>C (p.I137L), TSEN54(NM_207346.3):c.409A>C (p.I137L) - TSEN54_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.453C>T r.(?) p.(Thr151=) Unknown - likely benign g.73513721C>T g.75517640C>T TSEN54(NM_207346.2):c.453C>T (p.T151=) - TSEN54_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468+17C>T r.(=) p.(=) Unknown - likely benign g.73513753C>T g.75517672C>T TSEN54(NM_207346.2):c.468+17C>T - TSEN54_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.469-9dup r.(=) p.(=) Unknown - benign g.73515067dup g.75518986dup TSEN54(NM_207346.3):c.469-9dupT - KIAA0195_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469-8C>T r.(=) p.(=) Unknown - likely benign g.73515068C>T g.75518987C>T TSEN54(NM_207346.2):c.469-8C>T (p.(=)) - KIAA0195_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469-3G>T r.spl? p.? Unknown - likely benign g.73515073G>T g.75518992G>T TSEN54(NM_207346.2):c.469-3G>T - KIAA0195_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.510A>T r.(?) p.(Arg170=) Unknown - likely benign g.73515117A>T - TSEN54(NM_207346.2):c.510A>T (p.R170=) - KIAA0195_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.522-18G>A r.(=) p.(=) Unknown - benign g.73517472G>A g.75521391G>A TSEN54(NM_207346.2):c.522-18G>A - TSEN54_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.550C>T r.(?) p.(Leu184Phe) Unknown - VUS g.73517518C>T - TSEN54(NM_207346.3):c.550C>T (p.(Leu184Phe)) - LLGL2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.568G>A r.(?) p.(Val190Met) Unknown - likely benign g.73517536G>A g.75521455G>A TSEN54(NM_207346.2):c.568G>A (p.V190M), TSEN54(NM_207346.3):c.568G>A (p.V190M) - TSEN54_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.568G>A r.(?) p.(Val190Met) Unknown - benign g.73517536G>A g.75521455G>A TSEN54(NM_207346.2):c.568G>A (p.V190M), TSEN54(NM_207346.3):c.568G>A (p.V190M) - TSEN54_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.568G>A r.(?) p.(Val190Met) Unknown - benign g.73517536G>A g.75521455G>A TSEN54(NM_207346.2):c.568G>A (p.V190M), TSEN54(NM_207346.3):c.568G>A (p.V190M) - TSEN54_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.624-9G>A r.(=) p.(=) Unknown - likely benign g.73517777G>A g.75521696G>A TSEN54(NM_207346.2):c.624-9G>A, TSEN54(NM_207346.3):c.624-9G>A - TSEN54_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.624-9G>A r.(=) p.(=) Unknown - benign g.73517777G>A g.75521696G>A TSEN54(NM_207346.2):c.624-9G>A, TSEN54(NM_207346.3):c.624-9G>A - TSEN54_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.663G>A r.(?) p.(Leu221=) Unknown - likely benign g.73517825G>A g.75521744G>A TSEN54(NM_207346.2):c.663G>A (p.L221=) - TSEN54_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.767G>A r.(?) p.(Gly256Asp) Unknown - likely benign g.73517929G>A g.75521848G>A TSEN54(NM_207346.2):c.767G>A (p.G256D) - LLGL2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.827G>T r.(?) p.(Gly276Val) Unknown - likely benign g.73517989G>T g.75521908G>T TSEN54(NM_207346.2):c.827G>T (p.G276V) - LLGL2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.871G>A r.(?) p.(Ala291Thr) Unknown - likely benign g.73518033G>A g.75521952G>A TSEN54(NM_207346.2):c.871G>A (p.(Ala291Thr)) - LLGL2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.901A>C r.(?) p.Ile301Leu Unknown ACMG VUS g.73518063A>C g.75521982A>C - - TSEN54_000034 hepatp-encephalopathy, mental retardation, Grand Mal, ataxia, no second variant in TSEN54 detected - - - Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
?/. - c.909C>G r.(?) p.(Phe303Leu) Unknown - VUS g.73518071C>G g.75521990C>G TSEN54(NM_207346.2):c.909C>G (p.F303L) - LLGL2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.919G>T r.(?) p.(Ala307Ser) Unknown - pathogenic g.73518081G>T g.75522000G>T TSEN54(NM_207346.2):c.919G>T (p.A307S, p.(Ala307Ser)), TSEN54(NM_207346.3):c.919G>T (p.A307S) - TSEN54_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.919G>T r.(?) p.(Ala307Ser) Unknown - pathogenic g.73518081G>T g.75522000G>T TSEN54(NM_207346.2):c.919G>T (p.A307S, p.(Ala307Ser)), TSEN54(NM_207346.3):c.919G>T (p.A307S) - TSEN54_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.919G>T r.(?) p.(Ala307Ser) Both (homozygous) ACMG pathogenic g.73518081G>T g.75522000G>T - - TSEN54_000019 - PubMed: TumienÄ— 2018 - - Germline - - - - - DNA SEQ-NG - WES ? 29286531-Pat20 PubMed: TumienÄ— 2018 - - - (Slovenia) - - - - - 1 Johan den Dunnen
+/. - c.919G>T r.(?) p.(Ala307Ser) Unknown - pathogenic g.73518081G>T g.75522000G>T TSEN54(NM_207346.2):c.919G>T (p.A307S, p.(Ala307Ser)), TSEN54(NM_207346.3):c.919G>T (p.A307S) - TSEN54_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.919G>T r.(?) p.(Ala307Ser) Both (homozygous) - pathogenic g.73518081G>T g.75522000G>T g.10473G>T - TSEN54_000019 - - - - Germline - - - - - DNA SEQ blood - PCH CCM216 - - F - Romania - >02y09m - - - 1 Enza Maria Valente
+?/. - c.919G>T r.(?) p.(Ala307Ser) Both (homozygous) - likely pathogenic g.73518081G>T g.75522000G>T g.10473G>T - TSEN54_000019 - - - - Germline - - - - - DNA SEQ blood - PCH CCM325 - - M - Italy - >18y09m - - - 1 Enza Maria Valente
+?/. - c.919G>T r.(?) p.(Ala307Ser) Both (homozygous) - likely pathogenic g.73518081G>T g.75522000G>T g.10473G>T - TSEN54_000019 - - - - Germline - - - - - DNA SEQ blood - PCH CCM419 - - M - Italy - >01y03m - - - 1 Enza Maria Valente
+?/. - c.919G>T r.(?) p.(Ala307Ser) Both (homozygous) - likely pathogenic g.73518081G>T g.75522000G>T g.10473G>T - TSEN54_000019 - - - - Germline - - - - - DNA SEQ blood - PCH CCM430 - - F - (Italy) - >00y09m - - - 1 Enza Maria Valente
+?/. - c.919G>T r.(?) p.(Ala307Ser) Both (homozygous) - likely pathogenic g.73518081G>T g.75522000G>T g.10473G>T - TSEN54_000019 - - - - Germline - - - - - DNA SEQ blood - PCH CCM495 - - F - Italy - >04y - - - 1 Enza Maria Valente
+?/. - c.919G>T r.(?) p.(Ala307Ser) Both (homozygous) - likely pathogenic g.73518081G>T g.75522000G>T g.10473G>T - TSEN54_000019 - - - - Germline - - - - - DNA SEQ blood - PCH CCM516 - - F - Italy - >00y04m - - - 1 Enza Maria Valente
+?/. - c.919G>T r.(?) p.(Ala307Ser) Both (homozygous) - likely pathogenic g.73518081G>T g.75522000G>T g.10473G>T - TSEN54_000019 - - - - Germline - - - - - DNA SEQ blood - PCH CCM517 - - M - Italy - >02y - - - 1 Enza Maria Valente
+?/. - c.919G>T r.(?) p.(Ala307Ser) Both (homozygous) - likely pathogenic g.73518081G>T g.75522000G>T g.10473G>T - TSEN54_000019 - - - - Germline - - - - - DNA SEQ blood - PCH CCM276 - - M - Italy - >04y06m - - - 1 Enza Maria Valente
+?/. - c.919G>T r.(?) p.(Ala307Ser) Both (homozygous) - likely pathogenic g.73518081G>T g.75522000G>T g.10473G>T - TSEN54_000019 - - - - Germline - - - - - DNA SEQ blood - PCH CCM543 - - M - Italy - >00y04m - - - 1 Enza Maria Valente
+?/. - c.919G>T r.(?) p.(Ala307Ser) Both (homozygous) - likely pathogenic g.73518081G>T g.75522000G>T g.10473G>T - TSEN54_000019 - - - - Germline - - - - - DNA SEQ blood - PCH CCM549 - - F - Italy - >01y - - - 1 Enza Maria Valente
+?/. - c.919G>T r.(?) p.(Ala307Ser) Both (homozygous) ACMG likely pathogenic g.73518081G>T - - - TSEN54_000019 ACMG grading: PS4,PM2,PM3,PP1 Budde et al. 2008. Nat Genet 40: 1113; Sanchez-Albisua et al. 2014. Orphanet J Rare Dis 9: 70 - rs113994152 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. - c.919G>T r.(?) p.(Ala307Ser) Unknown - pathogenic g.73518081G>T - TSEN54(NM_207346.2):c.919G>T (p.A307S, p.(Ala307Ser)), TSEN54(NM_207346.3):c.919G>T (p.A307S) - TSEN54_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.919G>T r.(?) p.(Ala307Ser) Unknown - pathogenic g.73518081G>T - TSEN54(NM_207346.2):c.919G>T (p.A307S, p.(Ala307Ser)), TSEN54(NM_207346.3):c.919G>T (p.A307S) - TSEN54_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.934C>T r.(?) p.(His312Tyr) Unknown - likely benign g.73518096C>T g.75522015C>T TSEN54(NM_207346.2):c.934C>T (p.(His312Tyr)) - LLGL2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.955G>A r.(?) p.(Ala319Thr) Unknown - likely benign g.73518117G>A g.75522036G>A TSEN54(NM_207346.2):c.955G>A (p.A319T) - LLGL2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.991G>A r.(?) p.(Glu331Lys) Unknown - VUS g.73518153G>A g.75522072G>A TSEN54(NM_207346.2):c.991G>A (p.E331K) - TSEN54_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1039A>T r.(?) p.(Lys347Ter) Unknown - VUS g.73518201A>T g.75522120A>T TSEN54(NM_207346.2):c.1039A>T (p.K347*, p.(Lys347*)) - TSEN54_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1039A>T r.(?) p.(Lys347Ter) Unknown - pathogenic g.73518201A>T - TSEN54(NM_207346.2):c.1039A>T (p.K347*, p.(Lys347*)) - TSEN54_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1041G>C r.(?) p.(Lys347Asn) Unknown - benign g.73518203G>C g.75522122G>C TSEN54(NM_207346.2):c.1041G>C (p.K347N), TSEN54(NM_207346.3):c.1041G>C (p.K347N) - TSEN54_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1041G>C r.(?) p.(Lys347Asn) Unknown - benign g.73518203G>C g.75522122G>C TSEN54(NM_207346.2):c.1041G>C (p.K347N), TSEN54(NM_207346.3):c.1041G>C (p.K347N) - TSEN54_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1041G>C r.(?) p.(Lys347Asn) Unknown - benign g.73518203G>C g.75522122G>C TSEN54(NM_207346.2):c.1041G>C (p.K347N), TSEN54(NM_207346.3):c.1041G>C (p.K347N) - TSEN54_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1041G>C r.(?) p.(Lys347Asn) Unknown - benign g.73518203G>C g.75522122G>C TSEN54(NM_207346.2):c.1041G>C (p.K347N), TSEN54(NM_207346.3):c.1041G>C (p.K347N) - TSEN54_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1057C>T r.(?) p.(Arg353Trp) Unknown - VUS g.73518219C>T g.75522138C>T TSEN54(NM_207346.2):c.1057C>T (p.R353W) - TSEN54_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1057C>T r.(?) p.(Arg353Trp) Parent #1 - VUS g.73518219C>T g.75522138C>T - - TSEN54_000023 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200540627 Germline - 4/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-?/. - c.1071G>A r.(?) p.(Ala357=) Unknown - likely benign g.73518233G>A g.75522152G>A TSEN54(NM_207346.2):c.1071G>A (p.A357=) - TSEN54_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1100A>G r.(?) p.(Asn367Ser) Unknown - VUS g.73518262A>G g.75522181A>G - - LLGL2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1114G>A r.(?) p.(Val372Met) Unknown - VUS g.73518276G>A g.75522195G>A TSEN54(NM_207346.2):c.1114G>A (p.V372M), TSEN54(NM_207346.3):c.1114G>A (p.V372M) - TSEN54_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1114G>A r.(?) p.(Val372Met) Unknown - VUS g.73518276G>A - TSEN54(NM_207346.2):c.1114G>A (p.V372M), TSEN54(NM_207346.3):c.1114G>A (p.V372M) - TSEN54_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1114G>A r.(?) p.(Val372Met) Unknown - VUS g.73518276G>A - TSEN54(NM_207346.2):c.1114G>A (p.V372M), TSEN54(NM_207346.3):c.1114G>A (p.V372M) - TSEN54_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1122G>C r.(?) p.(Arg374=) Unknown - benign g.73518284G>C g.75522203G>C TSEN54(NM_207346.2):c.1122G>C (p.R374=), TSEN54(NM_207346.3):c.1122G>C (p.R374=) - TSEN54_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1122G>C r.(?) p.(Arg374=) Unknown - benign g.73518284G>C g.75522203G>C TSEN54(NM_207346.2):c.1122G>C (p.R374=), TSEN54(NM_207346.3):c.1122G>C (p.R374=) - TSEN54_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1122G>C r.(?) p.(Arg374=) Unknown - benign g.73518284G>C g.75522203G>C TSEN54(NM_207346.2):c.1122G>C (p.R374=), TSEN54(NM_207346.3):c.1122G>C (p.R374=) - TSEN54_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1122G>C r.(?) p.(Arg374=) Unknown - benign g.73518284G>C g.75522203G>C TSEN54(NM_207346.2):c.1122G>C (p.R374=), TSEN54(NM_207346.3):c.1122G>C (p.R374=) - TSEN54_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1159C>T r.(?) p.(Arg387Trp) Unknown - likely benign g.73518321C>T g.75522240C>T TSEN54(NM_207346.2):c.1159C>T (p.R387W) - LLGL2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1166A>C r.(?) p.(Gln389Pro) Unknown - benign g.73518328A>C g.75522247A>C TSEN54(NM_207346.2):c.1166A>C (p.Q389P), TSEN54(NM_207346.3):c.1166A>C (p.Q389P) - TSEN54_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1166A>C r.(?) p.(Gln389Pro) Unknown - benign g.73518328A>C g.75522247A>C TSEN54(NM_207346.2):c.1166A>C (p.Q389P), TSEN54(NM_207346.3):c.1166A>C (p.Q389P) - TSEN54_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1170G>A r.spl p.? Both (homozygous) ACMG likely pathogenic (recessive) g.73518332G>A g.75522251G>A Val390Val - TSEN54_000035 variant predicted to affect splicing PubMed: Sepahvand 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG Blood WES PCH TSEN54.ER PubMed: Sepahvand 2020 5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Iran - - - - - 2 Ehsan Razmara
+?/. - c.1170G>A r.spl? p.(Val390=) Both (homozygous) ACMG likely pathogenic (recessive) g.73518332G>A g.75522251G>A - - TSEN54_000035 possible effect on splicing; c.1170G>A variant was checked in 26 relative individuals of the family using the PCR-RFLP technique which was confirmed by Sanger sequencing, 16 subjects were heterozygous for the variant (GA), while only two homozygotes (patients) were in the family. - - - Germline yes - RsaI+ - - DNA PCR, RFLP, SEQ, SEQ-NG Blood WES PCH TSEN_54_Iranian - - M yes Iran Fars 02y? - no - 1 Ehsan Razmara
?/. - c.1199T>C r.(?) p.(Leu400Pro) Unknown - VUS g.73518361T>C - TSEN54(NM_207346.3):c.1199T>C (p.L400P) - LLGL2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1234G>A r.(?) p.(Gly412Ser) Unknown - likely benign g.73518396G>A g.75522315G>A TSEN54(NM_207346.2):c.1234G>A (p.G412S) - LLGL2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1252+149G>C r.(=) p.(=) Unknown - benign g.73518563G>C g.75522482G>C TSEN54(NM_207346.3):c.1252+149G>C - LLGL2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1310C>T r.(?) p.(Ala437Val) Unknown - benign g.73519413C>T g.75523332C>T TSEN54(NM_207346.2):c.1310C>T (p.A437V), TSEN54(NM_207346.3):c.1310C>T (p.A437V) - TSEN54_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1310C>T r.(?) p.(Ala437Val) Unknown - benign g.73519413C>T g.75523332C>T TSEN54(NM_207346.2):c.1310C>T (p.A437V), TSEN54(NM_207346.3):c.1310C>T (p.A437V) - TSEN54_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1310C>T r.(?) p.(Ala437Val) Unknown - benign g.73519413C>T g.75523332C>T TSEN54(NM_207346.2):c.1310C>T (p.A437V), TSEN54(NM_207346.3):c.1310C>T (p.A437V) - TSEN54_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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