Full data view for gene TMEM5

NOTE: gene name changed from TMEM5 to RXYLT1
Information The variants shown are described using the NM_014254.1 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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.-19G>A r.(?) p.(=) Unknown - VUS g.64173722G>A g.63779942G>A TMEM5(NM_014254.2):c.-19G>A - TMEM5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14G>T r.(?) p.(=) Unknown - VUS g.64173727G>T g.63779947G>T TMEM5(NM_014254.2):c.-14G>T - TMEM5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.17A>G r.(?) p.(Lys6Arg) Unknown - likely benign g.64173757A>G g.63779977A>G TMEM5(NM_014254.2):c.17A>G (p.K6R) - TMEM5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.41C>T r.(?) p.(Ala14Val) Unknown - likely benign g.64173781C>T g.63780001C>T TMEM5(NM_014254.2):c.41C>T (p.A14V) - TMEM5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.43C>T r.(?) p.(Leu15=) Unknown - likely benign g.64173783C>T g.63780003C>T RXYLT1(NM_014254.2):c.43C>T (p.L15=), TMEM5(NM_014254.2):c.43C>T (p.L15=) - TMEM5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.67G>A r.(?) p.(Ala23Thr) Unknown - benign g.64173807G>A g.63780027G>A TMEM5(NM_014254.2):c.67G>A (p.A23T) - TMEM5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126C>G r.(?) p.(Gly42=) Unknown - likely benign g.64173866C>G g.63780086C>G TMEM5(NM_014254.2):c.126C>G (p.G42=) - TMEM5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.139del r.(?) p.(Ala47Argfs*42) Both (homozygous) - pathogenic g.64173879del g.63780099del - - TMEM5_000007 - PubMed: Jae 2013, OMIM:var0007 - - Germline yes - - - - DNA SEQ - - WWS - PubMed: Jae 2013 2-generation family, 2 affected sisters, unaffected carrier parents F yes - - - - - - 4 Johan den Dunnen
+/? 1 c.139del r.(?) p.Ala47Argfs*42 Unknown - NA g.64173879del g.63780099del - - TMEM5_000007 expression cloning neither restored alpha-DG glycosylation nor enhanced susceptibility to infection with rVSV-GP-LASV PubMed: Jae 2013, OMIM:var0007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.139del r.(?) p.(Ala47Argfs*42) Both (homozygous) - pathogenic g.64173879del g.63780099del - - TMEM5_000007 - PubMed: Jae 2013 - - Germline yes - - - - DNA SEQ - - WWS - PubMed: Jae 2013 2-generation family, sister F yes - - - - - - 1 Johan den Dunnen
+/? 1 c.139del r.(?) p.(Ala47Argfs*42) Parent #1 - pathogenic g.64173879del g.63780099del - - TMEM5_000007 - PubMed: Jae 2013 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Jae 2013 2-generation family, unaffected carrier parents - yes - - - - - - 2 Johan den Dunnen
?/. - c.205T>C r.(?) p.(Trp69Arg) Unknown - VUS g.64174834T>C - RXYLT1(NM_014254.3):c.205T>C (p.(Trp69Arg)) - TMEM5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.252C>T r.(?) p.(Ser84=) Unknown - likely benign g.64174881C>T g.63781101C>T RXYLT1(NM_014254.2):c.252C>T (p.S84=), RXYLT1(NM_014254.3):c.252C>T (p.S84=) - TMEM5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.252C>T r.(?) p.(Ser84=) Unknown - likely benign g.64174881C>T - RXYLT1(NM_014254.2):c.252C>T (p.S84=), RXYLT1(NM_014254.3):c.252C>T (p.S84=) - TMEM5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.275C>T r.(?) p.(Thr92Met) Unknown - likely benign g.64174904C>T - TMEM5(NM_014254.2):c.275C>T (p.T92M) - TMEM5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.279del r.(?) p.(Gly94Glufs*33) Paternal (confirmed) - pathogenic g.64174908del g.63781128del - - TMEM5_000005 - PubMed: Vuillaumier-Barrot 2012, OMIM:var0005 - - Germline yes - - - - DNA SEQ ? - CSLE - PubMed: Vuillaumier-Barrot 2012 2-generation family, 1 affected fetus - ? France - - - - - 3 Johan den Dunnen
+/? 2 c.279del r.(?) p.(Gly94Glufs*33) Parent #1 - pathogenic g.64174908del g.63781128del - - TMEM5_000005 - PubMed: Vuillaumier-Barrot 2012, OMIM:var0005 - - Germline yes - - - - DNA SEQ ? - Healthy/Control - - 2-generation family, unaffected carrier parents - ? France - - - - - 2 Johan den Dunnen
+/? 2 c.279del r.(?) p.(Gly94Glufs*33) Maternal (confirmed) - pathogenic g.64174908del g.63781128del - - TMEM5_000005 - PubMed: Vuillaumier-Barrot 2012, OMIM:var0005 - - Germline yes - - - - DNA SEQ ? - CSLE - PubMed: Vuillaumier-Barrot 2012 2-generation family, 1 affected fetus - ? France - - - - - 3 Johan den Dunnen
?/. - c.309G>A r.(?) p.(Trp103Ter) Unknown - VUS g.64174938G>A g.63781158G>A RXYLT1(NM_014254.3):c.309G>A (p.(Trp103*)) - TMEM5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.326-3C>T r.spl? p.? Unknown - likely benign g.64178747C>T - RXYLT1(NM_014254.3):c.326-3C>T - TMEM5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.603C>T r.(?) p.(Leu201=) Unknown - likely benign g.64196045C>T g.63802265C>T RXYLT1(NM_014254.2):c.603C>T (p.L201=) - TMEM5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.795del r.(?) p.(Arg266Glyfs*8) Paternal (confirmed) - pathogenic g.64199065del g.63805285del - - TMEM5_000001 homozygosity mapping, exome sequencing PubMed: Vuillaumier-Barrot 2012, OMIM:var0001 - - Germline yes - - - - DNA SEQ ? - CSLE - PubMed: Vuillaumier-Barrot 2012 2-generation family, 4 affected fetuses - yes France - - - - - 3 Johan den Dunnen
+/? 5 c.795del r.(?) p.(Arg266Glyfs*8) Parent #1 - pathogenic g.64199065del g.63805285del - - TMEM5_000001 - PubMed: Vuillaumier-Barrot 2012, OMIM:var0001 - - Germline yes - - - - DNA SEQ ? - Healthy/Control - - 2-generation family, unaffected carrier parents - yes France - - - - - 2 Johan den Dunnen
+/? 5 c.795del r.(?) p.(Arg266Glyfs*8) Maternal (confirmed) - pathogenic g.64199065del g.63805285del - - TMEM5_000001 homozygosity mapping, exome sequencing PubMed: Vuillaumier-Barrot 2012, OMIM:var0001 - - Germline yes - - - - DNA SEQ ? - CSLE - PubMed: Vuillaumier-Barrot 2012 2-generation family, 4 affected fetuses - yes France - - - - - 3 Johan den Dunnen
-?/. - c.825G>A r.(?) p.(Thr275=) Unknown - likely benign g.64199095G>A g.63805315G>A RXYLT1(NM_014254.2):c.825G>A (p.T275=) - TMEM5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.882C>T r.(?) p.(Asn294=) Unknown - likely benign g.64199152C>T g.63805372C>T RXYLT1(NM_014254.2):c.882C>T (p.N294=) - TMEM5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.914+6T>G r.spl? p.? Both (homozygous) - VUS g.64199190T>G g.63805410T>G - - TMEM5_000025 - PubMed: Al-Kasbi 2022 VCV000429848.4 rs748809209 Germline - - - - - DNA SEQ, SEQ-NG - WES ID 10MS7800 PubMed: Al-Kasbi 2022 patient, other affecteds in family F - Oman - - - - - 1 Johan den Dunnen
+/? 6 c.1016A>G r.(?) p.(Tyr339Cys) Parent #1 - pathogenic g.64202556A>G g.63808776A>G - - TMEM5_000002 - PubMed: Vuillaumier-Barrot 2012, OMIM:var0002 - - Germline yes - - - - DNA PCRq, SEQ ? - CSLE - PubMed: Vuillaumier-Barrot 2012 2-generation family, 2 affected fetuses - no France - - - - - 4 Johan den Dunnen
+/? 6 c.1016A>G r.(?) p.(Tyr339Cys) Parent #1 - pathogenic g.64202556A>G g.63808776A>G - - TMEM5_000002 - PubMed: Vuillaumier-Barrot 2012, OMIM:var0002 - - Germline yes - - - - DNA SEQ ? - CSLE - PubMed: Vuillaumier-Barrot 2012 2-generation family, 1 affected fetus - no France - - - - - 3 Johan den Dunnen
+/? 6 c.1016A>G r.(?) p.(Tyr339Cys) Parent #1 - pathogenic g.64202556A>G g.63808776A>G - - TMEM5_000002 - PubMed: Vuillaumier-Barrot 2012, OMIM:var0002 - - Germline yes - - - - DNA SEQ ? - Healthy/Control - - 2-generation family, unaffected carrier parent - no France - - - - - 1 Johan den Dunnen
+/? 6 c.1016A>G r.(?) p.(Tyr339Cys) Parent #2 - pathogenic g.64202556A>G g.63808776A>G - - TMEM5_000002 - PubMed: Vuillaumier-Barrot 2012, OMIM:var0002 - - Germline yes - - - - DNA PCRq, SEQ ? - CSLE - PubMed: Vuillaumier-Barrot 2012 2-generation family, 2 affected fetuses - no France - - - - - 4 Johan den Dunnen
+/? 6 c.1018C>T r.(?) p.(Arg340*) Both (homozygous) - pathogenic g.64202558C>T g.63808778C>T - - TMEM5_000006 - PubMed: Jae 2013, OMIM:var0006 - - Germline yes - - - - DNA SEQ - - WWS - PubMed: Jae 2013 2-generation family, 1 affected, unaffected carrier parents M yes - - 00y22m - - - 3 Johan den Dunnen
+/? 5 c.1018C>T r.(?) p.Arg340* Unknown - NA g.64202558C>T g.63808778C>T - - TMEM5_000006 expression cloning neither restored alpha-DG glycosylation nor enhanced susceptibility to infection with rVSV-GP-LASV PubMed: Jae 2013, OMIM:var0006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/? 6 c.1018C>T r.(?) p.(Arg340*) Parent #1 - pathogenic g.64202558C>T g.63808778C>T - - TMEM5_000006 - PubMed: Jae 2013 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Jae 2013 2-generation family, unaffected carrier parents ? yes - - - - - - 2 Johan den Dunnen
+/? 6 c.1019_1020delinsTT r.(?) p.(Arg340Leu) Parent #1 - pathogenic g.64202559_64202560delinsTT g.63808779_63808780delinsTT - - TMEM5_000003 - PubMed: Vuillaumier-Barrot 2012, OMIM:var0003 - - Germline yes - - - - DNA SEQ ? - CSLE - PubMed: Vuillaumier-Barrot 2012 2-generation family, 1 affected fetus - no France - - - - - 3 Johan den Dunnen
+/? 6 c.1019_1020delinsTT r.(?) p.(Arg340Leu) Parent #1 - pathogenic g.64202559_64202560delinsTT g.63808779_63808780delinsTT - - TMEM5_000003 - PubMed: Vuillaumier-Barrot 2012, OMIM:var0003 - - Germline yes - - - - DNA SEQ ? - Healthy/Control - - 2-generation family, unaffected carrier parent - no France - - - - - 1 Johan den Dunnen
+/? 6 c.1064_1091del r.(?) p.(Asp355Valfs*33) Parent #1 - pathogenic g.64202604_64202631del g.63808824_63808851del - - TMEM5_000004 - PubMed: Vuillaumier-Barrot 2012, OMIM:var0004 - - Germline yes - - - - DNA SEQ ? - Healthy/Control - - 2-generation family, unaffected carrier parent - no France - - - - - 1 Johan den Dunnen
+/? 6 c.1064_1091del r.(?) p.(Asp355Valfs*33) Parent #1 - pathogenic g.64202604_64202631del g.63808824_63808851del - - TMEM5_000004 - PubMed: Vuillaumier-Barrot 2012, OMIM:var0004 - - Germline yes - - - - DNA SEQ ? - Healthy/Control - - 2-generation family, unaffected carrier parent - no France - - - - - 1 Johan den Dunnen
+/? 6 c.1064_1091del r.(?) p.(Asp355Valfs*33) Parent #2 - pathogenic g.64202604_64202631del g.63808824_63808851del - - TMEM5_000004 - PubMed: Vuillaumier-Barrot 2012, OMIM:var0004 - - Germline yes - - - - DNA SEQ ? - CSLE - PubMed: Vuillaumier-Barrot 2012 2-generation family, 1 affected fetus - no France - - - - - 3 Johan den Dunnen
+/? 6 c.1064_1091del r.(?) p.(Asp355Valfs*33) Parent #2 - pathogenic g.64202604_64202631del g.63808824_63808851del - - TMEM5_000004 - PubMed: Vuillaumier-Barrot 2012, OMIM:var0004 - - Germline yes - - - - DNA SEQ ? - CSLE - PubMed: Vuillaumier-Barrot 2012 2-generation family, 1 affected fetus - no France - - - - - 3 Johan den Dunnen
-?/. - c.1108G>A r.(?) p.(Gly370Ser) Unknown - likely benign g.64202648G>A g.63808868G>A TMEM5(NM_001278237.1):c.328G>A (p.(Gly110Ser)) - TMEM5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1130A>G r.(?) p.(Lys377Arg) Unknown - VUS g.64202670A>G g.63808890A>G TMEM5(NM_014254.2):c.1130A>G (p.K377R) - TMEM5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1165T>G r.(?) p.(Trp389Gly) Unknown - VUS g.64202705T>G - RXYLT1(NM_014254.3):c.1165T>G (p.(Trp389Gly)) - TMEM5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1226A>G r.(?) p.(Glu409Gly) Unknown - likely benign g.64202766A>G - TMEM5(NM_001278237.1):c.446A>G (p.E149G), TMEM5(NM_014254.2):c.1226A>G (p.E409G) - TMEM5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1325A>G r.(?) p.(Lys442Arg) Unknown - likely benign g.64202865A>G g.63809085A>G TMEM5(NM_014254.2):c.1325A>G (p.K442R) - TMEM5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*18C>G r.(=) p.(=) Unknown - benign g.64202890C>G g.63809110C>G TMEM5(NM_014254.2):c.*18C>G - TMEM5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*19_*20del r.(=) p.(=) Unknown - benign g.64202891_64202892del g.63809111_63809112del TMEM5(NM_014254.2):c.*19_*20delAT - TMEM5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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