Full data view for gene SAMHD1

Information The variants shown are described using the NM_015474.3 transcript reference sequence.

100 entries on 1 page. Showing entries 1 - 100.
Legend   How to query  

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     
+?/+? _1_1i c.-6085_208+2691del r.0? p.0? Both (homozygous) - likely pathogenic g.35577148_35586131del g.36948745_36957728del - - SAMHD1_000005 9kb Deletion PubMed: Ramesh 2010 - - Germline - - - - - DNA PCR - - AGS5 - PubMed: Ramesh 2010 - - - - - - - - - 1 Erilda Kapllani
+?/+? _1_1i c.-6085_208+2691del r.0? p.0? Parent #1 - likely pathogenic g.35577148_35586131del g.36948745_36957728del - - SAMHD1_000005 (8984Kbdel) Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - - - DNA PCR - - AGS5 - Prof. YJ Crow, Univ Manchester, unpublished - - - Israel Israeli - - - - 1 Erilda Kapllani
+?/+? _1_1i c.-6085_208+2691del r.0? p.0? Both (homozygous) - likely pathogenic g.35577148_35586131del g.36948745_36957728del - - SAMHD1_000005 (8984Kbdel) Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - - - DNA PCR - - AGS5 - Prof. YJ Crow, Univ Manchester, unpublished - - - - - - - - - 1 Erilda Kapllani
+?/+? _1_1i c.-6085_208+2691del r.0? p.0? Unknown - likely pathogenic g.35577148_35586131del g.36948745_36957728del - - SAMHD1_000005 (8984Kbdel) Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - - - DNA PCR - - AGS5 - Prof. YJ Crow, Univ Manchester, unpublished - - - - - - - - - 1 Erilda Kapllani
+?/+? _1_1i c.-6085_208+2691del r.0? p.0? Unknown - likely pathogenic g.35577148_35586131del g.36948745_36957728del - - SAMHD1_000005 9kb Deletion PubMed: Ramesh 2010 - - Germline - - - - - DNA PCR - - AGS5 - Prof. YJ Crow, Univ Manchester, unpublished - - - - - - - - - 1 Erilda Kapllani
+?/+? _1_1i c.-6085_208+2691del r.0? p.0? Parent #1 - likely pathogenic g.35577148_35586131del g.36948745_36957728del - - SAMHD1_000005 (8984Kbdel) Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - - - DNA PCR - - AGS5 - Prof. YJ Crow, Univ Manchester, unpublished - - - - Jewish - - - - 1 Erilda Kapllani
+?/+? _1_1i c.-6085_208+2691del r.0? p.0? Both (homozygous) - likely pathogenic g.35577148_35586131del g.36948745_36957728del - - SAMHD1_000005 (8984Kbdel) PubMed: Ramesh 2010 - - Germline - - - - - DNA PCR - - AGS5 - Prof. YJ Crow, Univ Manchester, unpublished - - - France France;Jewish - - - - 1 Erilda Kapllani
+?/+? _1_1i c.-6085_208+2691del r.0? p.0? Both (homozygous) - likely pathogenic g.35577148_35586131del g.36948745_36957728del - - SAMHD1_000005 (8984Kbdel) Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - - - DNA PCR - - AGS5 - Prof. YJ Crow, Univ Manchester, unpublished - - - France France;Jewish - - - - 1 Erilda Kapllani
+?/+? _1_1i c.-6085_208+2691del r.0? p.0? Parent #1 - likely pathogenic g.35577148_35586131del g.36948745_36957728del - - SAMHD1_000005 9kb Deletion PubMed: Ramesh 2010 - - Germline - - - - - DNA PCR - - AGS5 - Prof. YJ Crow, Univ Manchester, unpublished - - - - Jewish - - - - 1 Erilda Kapllani
+?/+? _1_1i c.-6085_208+2691del r.0? p.0? Both (homozygous) - likely pathogenic g.35577148_35586131del g.36948745_36957728del - - SAMHD1_000005 (8984Kbdel) PubMed: Leshinsky-Silver 2011 - - Germline - - - - - DNA PCR - - AGS5 - PubMed: Leshinsky-Silver 2011 - - - - Jewish - - - - 1 Erilda Kapllani
+/+? _1_13i c.(?_-1)_(1503+1_1504-1)del r.0 p.0 Both (homozygous) - pathogenic g.(35526948_35532559)_(35580047_?)del - - - SAMHD1_000009 - PubMed: Abdel-Salam 2010 - - Germline - - - - - DNA PCR - - AGS5 - PubMed: Abdel-Salam 2010 - - - - - - - - - 1 Erilda Kapllani
-?/. - c.77C>T r.(?) p.(Pro26Leu) Unknown - likely benign g.35579970G>A g.36951567G>A SAMHD1(NM_015474.3):c.77C>T (p.P26L) - SAMHD1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.102G>A r.(?) p.(Pro34=) Unknown - likely benign g.35579945C>T - SAMHD1(NM_015474.3):c.102G>A (p.P34=) - C20orf118_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.114C>G r.(?) p.(Leu38=) Unknown - likely benign g.35579933G>C g.36951530G>C SAMHD1(NM_015474.3):c.114C>G (p.L38=) - SAMHD1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237T>C r.(?) p.(Pro79=) Unknown - likely benign g.35575179A>G g.36946776A>G SAMHD1(NM_001363729.1):c.237T>C (p.P79=), SAMHD1(NM_015474.3):c.237T>C (p.P79=) - C20orf118_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237T>C r.(?) p.(Pro79=) Unknown - likely benign g.35575179A>G - SAMHD1(NM_001363729.1):c.237T>C (p.P79=), SAMHD1(NM_015474.3):c.237T>C (p.P79=) - C20orf118_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.275+8T>A r.(=) p.(=) Unknown - likely benign g.35575133A>T - SAMHD1(NM_001363729.1):c.275+8T>A - C20orf118_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.334G>A r.(?) p.(Val112Ile) Unknown - likely benign g.35569456C>T g.36941053C>T SAMHD1(NM_001363729.1):c.334G>A (p.V112I) - C20orf118_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348+18T>G r.(=) p.(=) Unknown - likely benign g.35569424A>C g.36941021A>C SAMHD1(NM_015474.3):c.348+18T>G - C20orf118_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.359_370del r.(?) p.(Asp120_His123del) Both (homozygous) - pathogenic g.35563574_35563585del g.36935171_36935182del - - SAMHD1_000034 homozygous mutation PubMed: Rice 2009 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Rice 2009 1 carrier - - - - - - - - 1 Erilda Kapllani
+/. 4 c.368A>C r.(?) p.(His123Pro) Unknown - pathogenic g.35563573T>G g.36935170T>G - - SAMHD1_000023 heterozygous mutations PubMed: Rice 2009 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Rice 2009 1 carrier - - - - - - - - 1 Erilda Kapllani
?/? 4 c.400C>T r.(?) p.(Arg134*) Both (homozygous) - VUS g.35563541G>A g.36935138G>A - - SAMHD1_000013 - - - - Germline - - - - - DNA SEQ - - AGS5 - - - M - - - - - - - 1 Caroline Janel
+/. - c.400C>T r.(?) p.(Arg134*) Unknown - pathogenic g.35563541G>A - SAMHD1(NM_015474.4):c.400C>T (p.R134*) - SAMHD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.427C>T r.(?) p.(Arg143Cys) Unknown - pathogenic g.35563514G>A g.36935111G>A - - SAMHD1_000027 heterozygous mutations PubMed: Rice 2009 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Rice 2009 1 carrier - - - - - - - - 1 Erilda Kapllani
+/. 4 c.428G>A r.(?) p.(Arg143His) Both (homozygous) - pathogenic g.35563513C>T g.36935110C>T - - SAMHD1_000030 homozygous mutation PubMed: Rice 2009 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Rice 2009 1 carrier - - - - - - - - 1 Erilda Kapllani
?/. - c.428G>A r.(?) p.(Arg143His) Unknown - VUS g.35563513C>T g.36935110C>T SAMHD1(NM_015474.3):c.428G>A (p.R143H) - SAMHD1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.433C>T r.(?) p.(Arg145*) Both (homozygous) - pathogenic g.35563508G>A g.36935105G>A - - SAMHD1_000022 homozygous mutation PubMed: Rice 2009 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Rice 2009 2 times identified - - - - - - - - 2 Erilda Kapllani
+/. - c.433C>T r.(?) p.(Arg145*) Unknown ACMG pathogenic g.35563508G>A - - - SAMHD1_000022 - - - rs121434517 Unknown - - - - - DNA SEQ-NG - - SIDS SIDS044 - - M - Switzerland Europe 00y03m - - - 1 Cordula Haas
+/. 4 c.434G>A r.(?) p.(Arg145Gln) Unknown - pathogenic g.35563507C>T g.36935104C>T - - SAMHD1_000025 heterozygous mutations PubMed: Rice 2009 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Rice 2009 1 carrier - - - - - - - - 1 Erilda Kapllani
?/. - c.434G>C r.(?) p.(Arg145Pro) Unknown - VUS g.35563507C>G - SAMHD1(NM_001363729.1):c.434G>C (p.R145P) - C20orf118_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.445C>T r.(?) p.(Gln149*) Both (homozygous) - pathogenic g.35563496G>A g.36935093G>A - - SAMHD1_000031 homozygous mutation PubMed: Rice 2009 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Rice 2009 1 carrier - - - - - - - - 1 Erilda Kapllani
-?/. - c.462C>T r.(?) p.(Tyr154=) Unknown - likely benign g.35563479G>A g.36935076G>A SAMHD1(NM_015474.4):c.462C>T (p.Y154=) - SAMHD1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.490C>T r.(?) p.(Arg164*) Both (homozygous) - pathogenic g.35563451G>A g.36935048G>A - - SAMHD1_000039 homozygous mutation PubMed: Thiele 2010 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Thiele 2010 4 times identified - - - - - - - - 4 Erilda Kapllani
+/. - c.490C>T r.(?) p.(Arg164Ter) Unknown - pathogenic g.35563451G>A - SAMHD1(NM_001363729.1):c.490C>T (p.R164*) - SAMHD1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.499C>T r.(?) p.(His167Tyr) Both (homozygous) - pathogenic g.35563442G>A g.36935039G>A - - SAMHD1_000035 homozygous mutation PubMed: Ramantani 2010 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Ramantani 2010 1 carrier - - - - - - - - 1 Erilda Kapllani
?/. - c.508G>A r.(?) p.(Gly170Arg) Unknown - VUS g.35563433C>T g.36935030C>T SAMHD1(NM_015474.4):c.508G>A (p.G170R) - C20orf118_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.510-190T>C r.(=) p.(=) Unknown - benign g.35559468A>G g.36931065A>G SAMHD1(NM_015474.3):c.510-190T>C - SAMHD1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.602T>A r.(?) p.(Ile201Asn) Unknown - pathogenic g.35559186A>T g.36930783A>T - - SAMHD1_000028 heterozygous mutations PubMed: Rice 2009 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Rice 2009 1 carrier - - - - - - - - 1 Erilda Kapllani
+/. 5 c.602T>A r.(?) p.(Ile201Asn) Both (homozygous) - pathogenic g.35559186A>T g.36930783A>T - - SAMHD1_000028 homozygous mutation PubMed: Ramesh 2010 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Ramesh 2010 1 carrier - - - - - - - - 1 Erilda Kapllani
+/. 5 c.602T>A r.(?) p.(Ile201Asn) Paternal (confirmed) - pathogenic g.35559186A>T g.36930783A>T - - SAMHD1_000028 heterozygous RNASEH2B variant c.925dupA also present Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - - - DNA SEQ - - AGS5 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
+/. 5 c.602T>A r.(?) p.(Ile201Asn) Parent #1 - pathogenic g.35559186A>T g.36930783A>T - - SAMHD1_000028 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - - - DNA SEQ - - AGS5 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
+/. 5 c.625G>A r.(?) p.(Gly209Ser) Both (homozygous) - pathogenic g.35559163C>T g.36930760C>T - - SAMHD1_000021 homozygous mutation PubMed: Rice 2009 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Rice 2009 1 carrier - - - - - - - - 1 Erilda Kapllani
+?/. - c.625+1G>A r.spl? p.? Both (homozygous) ACMG likely pathogenic g.35559162C>T g.36930759C>T - - SAMHD1_000014 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AGS5 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
-/. - c.625+43C>A r.(=) p.(=) Unknown - benign g.35559120G>T g.36930717G>T SAMHD1(NM_015474.3):c.625+43C>A - SAMHD1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.626-5T>C r.spl? p.? Unknown - likely benign g.35555660A>G g.36927257A>G SAMHD1(NM_015474.3):c.626-5T>C - C20orf118_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.626-5T>C r.spl? p.? Unknown - likely benign g.35555660A>G - SAMHD1(NM_015474.3):c.626-5T>C - C20orf118_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.626-1G>A r.spl? p.? Unknown - pathogenic g.35555656C>T g.36927253C>T - - C20orf118_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.626-1G>C r.[626_627ins[627-18_627-2;c],627_697del] p.[His210Serfs*5,Glu209Alafs*2] Both (homozygous) - pathogenic (recessive) g.35555656C>G - - - SAMHD1_000055 - PubMed: Lessel 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES AGS patient PubMed: Lessel 2014 - M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.646_647del r.(?) p.(Met216Valfs*2) Unknown - pathogenic g.35555634_35555635del - SAMHD1(NM_015474.3):c.646_647delAT (p.M216Vfs*2), SAMHD1(NM_015474.4):c.646_647delAT (p.M216Vfs*2) - C20orf118_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.646_647del r.(?) p.(Met216Valfs*2) Unknown - pathogenic g.35555634_35555635del - SAMHD1(NM_015474.3):c.646_647delAT (p.M216Vfs*2), SAMHD1(NM_015474.4):c.646_647delAT (p.M216Vfs*2) - C20orf118_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 6 c.648dup r.(?) p.(Phe217Valfs*2) Both (homozygous) - likely pathogenic g.35555633dup g.36927230dup c.649insG - SAMHD1_000006 homozygous mutation, originally reported as p.Phe217CysX (c.649insG ) PubMed: Ramesh 2010 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Ramesh 2010 1 carrier - - - - - - - - 1 Erilda Kapllani
+?/+? 6 c.648dup r.(?) p.(Phe217Valfs*2) Parent #2 - likely pathogenic g.35555633dup g.36927230dup - - SAMHD1_000006 - PubMed: Ramesh 2010 - - Germline - - - - - DNA PCR - - AGS5 - Prof. YJ Crow, Univ Manchester, unpublished - - - - Jewish - - - - 1 Erilda Kapllani
+?/+? 6 c.648dup r.(?) p.(Phe217Valfs*2) Parent #2 - likely pathogenic g.35555633dup g.36927230dup c.649insG - SAMHD1_000006 - Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - - - DNA PCR - - AGS5 - Prof. YJ Crow, Univ Manchester, unpublished - - - - Jewish - - - - 1 Erilda Kapllani
?/. - c.676C>T r.(?) p.(Arg226Cys) Unknown - VUS g.35555605G>A g.36927202G>A SAMHD1(NM_015474.4):c.676C>T (p.R226C) - SAMHD1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.681G>A r.(?) p.(Pro227=) Unknown - likely benign g.35555600C>T g.36927197C>T SAMHD1(NM_015474.3):c.681G>A (p.P227=) - C20orf118_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.697-11A>G r.(=) p.(=) Unknown - likely benign g.35547933T>C g.36919530T>C SAMHD1(NM_015474.3):c.697-11A>G - SAMHD1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.712G>A r.(?) p.(Val238Ile) Unknown - VUS g.35547907C>T - - - SAMHD1_000056 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.760A>G r.(?) p.(Met254Val) Unknown - pathogenic g.35547859T>C g.36919456T>C - - SAMHD1_000024 heterozygous mutations PubMed: Rice 2009 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Rice 2009 1 carrier - - - - - - - - 1 Erilda Kapllani
+/. 7 c.869G>A r.(?) p.(Arg290His) Unknown - pathogenic g.35545436C>T g.36917033C>T - - SAMHD1_000036 compound heterozygous with c.1642C>T PubMed: Ramantani 2010 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Ramantani 2010 1 carrier - - - - - - - - 1 Erilda Kapllani
+?/. - c.901G>C r.(?) p.(Val301Leu) Unknown - likely pathogenic (recessive) g.35545404C>G g.36917001C>G - - SAMHD1_000054 ACMG PM1, PM2, PP2, PP3, PP4 PubMed: Schuermans 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? Pat42 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease F - Belgium - - - - - 1 Johan den Dunnen
?/. - c.901G>C r.(?) p.(Val301Leu) Unknown - VUS g.35545404C>G - SAMHD1(NM_015474.4):c.901G>C (p.(Val301Leu), p.V301L) - SAMHD1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.901G>C r.(?) p.(Val301Leu) Unknown - VUS g.35545404C>G - SAMHD1(NM_015474.4):c.901G>C (p.(Val301Leu), p.V301L) - SAMHD1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.933C>A r.(?) p.(Asp311Glu) Unknown - VUS g.35545372G>T g.36916969G>T SAMHD1(NM_015474.4):c.933C>A (p.D311E) - C20orf118_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.954-4C>G r.spl? p.? Unknown - likely benign g.35545237G>C - SAMHD1(NM_015474.3):c.954-4C>G - C20orf118_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.998G>A r.(?) p.(Arg333His) Unknown - VUS g.35545189C>T - SAMHD1(NM_015474.4):c.998G>A (p.R333H) - C20orf118_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1019T>A r.(?) p.(Val340Asp) Unknown - VUS g.35545168A>T - SAMHD1(NM_015474.3):c.1019T>A (p.V340D) - C20orf118_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1096C>T r.(?) p.(Arg366Cys) Unknown - VUS g.35540922G>A - SAMHD1(NM_015474.4):c.1096C>T (p.R366C) - C20orf118_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1098dup r.(?) p.(Asn367Glnfs*6) Parent #2 - pathogenic g.35540920dup g.36912517dup - - SAMHD1_000002 heterozygous mutations Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - - - DNA SEQ - - AGS5 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
+?/+? 10 c.1106T>C r.(?) p.(Leu369Ser) Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 10 c.1153A>G r.(?) p.(Met385Val) Unknown - pathogenic g.35540865T>C g.36912462T>C - - SAMHD1_000029 - PubMed: Rice 2009 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Rice 2009 1 carrier - - - - - - - - 1 Erilda Kapllani
-?/. - c.1154+15T>G r.(=) p.(=) Unknown - likely benign g.35540849A>C g.36912446A>C SAMHD1(NM_015474.3):c.1154+15T>G - SAMHD1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1154+135A>T r.(=) p.(=) Unknown - likely benign g.35540729T>A g.36912326T>A SAMHD1(NM_015474.3):c.1154+135A>T - SAMHD1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1223G>C r.(?) p.(Arg408Pro) Unknown - VUS g.35539668C>G - SAMHD1(NM_015474.4):c.1223G>C (p.(Arg408Pro)) - C20orf118_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 11i_16i c.1273_*2del r.(?) p.(Asn425ValfsTer48) Both (homozygous) - likely pathogenic g.35521335_35533906del g.36892932_36905503del - - SAMHD1_000011 - PubMed: Ramesh 2010 - - Germline - - - - - DNA PCR - - AGS5 - PubMed: Ramesh 2010 - - - Italy Italian - - - - 1 Erilda Kapllani
-?/. - c.1320C>T r.(?) p.(Asp440=) Unknown - likely benign g.35533857G>A - SAMHD1(NM_001363729.1):c.1320C>T (p.D440=) - C20orf118_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1340A>C r.(?) p.(Gln447Pro) Unknown - likely benign g.35533837T>G - SAMHD1(NM_015474.3):c.1340A>C (p.Q447P) - C20orf118_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1343T>C r.(?) p.(Ile448Thr) Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ peripheral blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1393C>A r.(?) p.(Gln465Lys) Unknown - VUS g.35533784G>T - SAMHD1(NM_015474.4):c.1393C>A (p.Q465K) - C20orf118_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 12i c.1411-2A>G r.spl? p.(=) Unknown - likely pathogenic g.35532654T>C g.36904251T>C - - SAMHD1_000008 - PubMed: Xin 2011 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Xin 2011 17 times identified - - - - - - - - 17 Erilda Kapllani
+?/+? 12i c.1411-2A>G r.spl? p.(=) Both (homozygous) - likely pathogenic g.35532654T>C g.36904251T>C - - SAMHD1_000008 - PubMed: Xin 2011 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Xin 2011 - - - United States Amish - - - - 1 Erilda Kapllani
+?/+? 12i c.1411-2A>G r.spl? p.(=) Both (homozygous) - likely pathogenic g.35532654T>C g.36904251T>C - - SAMHD1_000008 - PubMed: Xin 2011 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Xin 2011 - - - United States Amish - - - - 1 Erilda Kapllani
+?/+? 12i c.1411-2A>G r.spl? p.(=) Both (homozygous) - likely pathogenic g.35532654T>C g.36904251T>C - - SAMHD1_000008 - Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - - - DNA SEQ - - AGS5 - Prof. YJ Crow, Univ Manchester, unpublished - - - United States Amish - - - - 1 Erilda Kapllani
-?/. - c.1445G>A r.(?) p.(Ser482Asn) Unknown - likely benign g.35532618C>T g.36904215C>T SAMHD1(NM_015474.3):c.1445G>A (p.S482N) - C20orf118_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1470C>T r.(?) p.(Asp490=) Unknown - likely benign g.35532593G>A - SAMHD1(NM_015474.3):c.1470C>T (p.D490=) - C20orf118_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 13 c.1476del r.(?) p.(Lys492Asnfs*2) Unknown - likely pathogenic g.35532589del g.36904186del - - SAMHD1_000007 - Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - - - DNA PCR - - AGS5 - Prof. YJ Crow, Univ Manchester, unpublished - - - - - - - - - 1 Erilda Kapllani
+?/+? 13 c.1476del r.(?) p.(Lys492Asnfs*2) Unknown - likely pathogenic g.35532589del g.36904186del - - SAMHD1_000007 - Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - - - DNA PCR - - AGS5 - Prof. YJ Crow, Univ Manchester, unpublished - - - - - - - - - 1 Erilda Kapllani
-?/. - c.1482G>A r.(?) p.(Lys494=) Unknown - likely benign g.35532581C>T - SAMHD1(NM_015474.3):c.1482G>A (p.K494=) - C20orf118_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 13i c.1503+1G>T r.spl? p.(=) Both (homozygous) - likely pathogenic g.35532559C>A g.36904156C>A - - SAMHD1_000012 - PubMed: Ramesh 2010 - - Germline - - - - - DNA SEQ - - AGS5 - Prof. YJ Crow, Univ Manchester, unpublished - - - Australia - - - - - 1 Erilda Kapllani
?/. - c.1593G>C r.(?) p.(Arg531Ser) Unknown - VUS g.35526858C>G g.36898455C>G SAMHD1(NM_015474.3):c.1593G>C (p.R531S) - SAMHD1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1609-4A>C r.spl? p.? Unknown - likely benign g.35526366T>G - SAMHD1(NM_015474.4):c.1609-4A>C - C20orf118_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14i c.1609-1G>C r.spl? p.(=) Both (homozygous) - pathogenic g.35526363C>G g.36897960C>G - - SAMHD1_000003 heterozygous RNASEH2B variant c.925dupA also present Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - - - DNA SEQ - - AGS5 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
+/. - c.1618del r.(?) p.(Leu540Phefs*10) Unknown - pathogenic g.35526353del - SAMHD1(NM_001363729.1):c.1513delC (p.L505Ffs*10) - C20orf118_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.1642C>T r.(?) p.(Gln548*) Both (homozygous) - pathogenic g.35526329G>A g.36897926G>A - - SAMHD1_000032 homozygous mutation PubMed: Rice 2009 - - Germline - - - - - DNA SEQ - - AGS5 - PubMed: Rice 2009 1 carrier - - - - - - - - 1 Erilda Kapllani
+?/. - c.1651C>G r.(?) p.(Arg551Gly) Unknown - likely pathogenic g.35526320G>C - SAMHD1(NM_001363729.2):c.1546C>G (p.R516G) - C20orf118_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1651C>T r.(?) p.(Arg551Ter) Unknown - pathogenic g.35526320G>A g.36897917G>A - - SAMHD1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 15 c.1657T>C r.(?) p.(Tyr553His) Paternal (confirmed) - likely benign g.35526314A>G g.36897911A>G - - SAMHD1_000004 heterozygous variant Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - - - DNA SEQ - - AGS5 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
-?/. - c.1743G>A r.(?) p.(Pro581=) Unknown - likely benign g.35526228C>T g.36897825C>T SAMHD1(NM_015474.3):c.1743G>A (p.P581=) - SAMHD1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 15i c.1746+1G>T r.spl? p.(=) Both (homozygous) - likely pathogenic g.35526224C>A g.36897821C>A - - SAMHD1_000010 - Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - - - DNA SEQ - - AGS5 - Prof. YJ Crow, Univ Manchester, unpublished - - - Spain Spanish - - - - 1 Erilda Kapllani
?/. - c.1747-1G>T r.spl? p.? Unknown - VUS g.35521470C>A - SAMHD1(NM_015474.4):c.1747-1G>T - C20orf118_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1756G>T r.(?) p.(Val586Phe) Unknown - VUS g.35521460C>A g.36893057C>A SAMHD1(NM_015474.3):c.1756G>T (p.V586F) - SAMHD1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.