Full data view for gene UNC80

Information The variants shown are described using the NM_032504.1 transcript reference sequence.

109 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.92+7G>A r.(=) p.(=) Unknown - likely benign g.210636895G>A g.209772171G>A UNC80(NM_032504.1):c.92+7G>A - UNC80_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.151C>T r.(?) p.(Arg51*) Both (homozygous) ACMG pathogenic g.210640622C>T g.209775898C>T - - UNC80_000010 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - IHPRF2 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
?/. - c.400G>A r.(?) p.(Gly134Ser) Unknown - VUS g.210642083G>A g.209777359G>A UNC80(NM_032504.1):c.400G>A (p.G134S) - UNC80_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.409C>T r.(?) p.(Arg137Ter) Unknown - pathogenic g.210642092C>T g.209777368C>T - - UNC80_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.448C>A r.(?) p.(His150Asn) Unknown - likely benign g.210642131C>A - UNC80(NM_032504.1):c.448C>A (p.(His150Asn)) - UNC80_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.565G>A r.(?) p.(Val189Met) Both (homozygous) - likely pathogenic g.210642248G>A g.209777524G>A XM_005246476.1:c.565G>A - UNC80_000003 - PubMed: Shamseldin HE 2016, Journal: Shamseldin HE 2016 - - Germline - - - - - DNA SEQ - - IE 26708753 F4_V:1 PubMed: Shamseldin HE 2016, Journal: Shamseldin HE 2016 - F yes Egypt - >08y - - - 1 Pieter Klap
+?/. 4 c.565G>A r.(?) p.(Val189Met) Both (homozygous) - likely pathogenic g.210642248G>A g.209777524G>A XM_005246476.1:c.565G>A - UNC80_000003 - PubMed: Shamseldin HE 2016, Journal: Shamseldin HE 2016 - - Germline - - - - - DNA SEQ - - IE 26708753 F4_V:2 PubMed: Shamseldin HE 2016, Journal: Shamseldin HE 2016 - F yes Egypt - >04y - - - 1 Pieter Klap
-?/. - c.601-5C>A r.spl? p.? Unknown - likely benign g.210650785C>A - UNC80(NM_032504.1):c.601-5C>A - UNC80_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.798+1G>T r.spl p.? Maternal (confirmed) ACMG pathogenic (recessive) g.210654330G>T g.209789606G>T - - UNC80_000085 - - - - Germline - - - - - DNA SEQ-NG Blood - IHPRF2 - - - - no Italy - - - - - 2 Mario Benvenuto
-?/. - c.857T>C r.(?) p.(Ile286Thr) Unknown - likely benign g.210658502T>C g.209793778T>C UNC80(NM_032504.1):c.857T>C (p.(Ile286Thr)) - UNC80_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.871C>T r.(?) p.(Arg291Ter) Unknown - pathogenic g.210658516C>T g.209793792C>T UNC80(NM_032504.2):c.871C>T (p.R291*) - UNC80_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.1020G>T r.(?) p.(Gln340His) Parent #1 - VUS g.210678385G>T g.209813661G>T - - UNC80_000001 - PubMed: Riviere 2012, Journal: Riviere 2012 - - Germline no - - - - DNA SEQ-NG - - MPPH1 - PubMed: Riviere 2012, Journal: Riviere 2012 2-generation family, 3 affected sibs (2F, M), unaffected non-carrier parents/sister; suspected germline mosaicism parent since 3 affected sibs share germline variant not detected in either parent (2 tissues) M no - European >16y - - - 3 Johan den Dunnen
?/. - c.1020G>T r.(?) p.(Gln340His) Unknown - VUS g.210678385G>T g.209813661G>T UNC80(NM_032504.1):c.1020G>T (p.Q340H) - UNC80_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.1021C>T r.(?) p.(Pro341Ser) Parent #2 - VUS g.210678386C>T g.209813662C>T - - UNC80_000002 - PubMed: Riviere 2012, Journal: Riviere 2012 - - Germline no - - - - DNA SEQ-NG - - MPPH1 - PubMed: Riviere 2012, Journal: Riviere 2012 2-generation family, 3 affected sibs (2F, M), unaffected non-carrier parents/sister; suspected germline mosaicism parent since 3 affected sibs share germline variant not detected in either parent (2 tissues) M no - European >16y - - - 3 Johan den Dunnen
?/. - c.1021C>T r.(?) p.(Pro341Ser) Unknown - VUS g.210678386C>T g.209813662C>T UNC80(NM_032504.1):c.1021C>T (p.P341S) - UNC80_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.1078C>T r.(?) p.(Arg360*) Both (homozygous) - likely pathogenic g.210678443C>T g.209813719C>T - - UNC80_000004 - PubMed: Shamseldin HE 2016, Journal: Shamseldin HE 2016 - - Germline - - - - - DNA SEQ - - IE 26708753 F3_IV:4 PubMed: Shamseldin HE 2016, Journal: Shamseldin HE 2016 - F yes Saudi Arabia - >07y - - - 1 Pieter Klap
?/. - c.1078C>T r.(?) p.(Arg360Ter) Unknown - VUS g.210678443C>T g.209813719C>T - - UNC80_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1078C>T r.(?) p.(Arg360*) Both (homozygous) ACMG likely pathogenic g.210678443C>T g.209813719C>T - - UNC80_000004 ACMG PVS1, PM2 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 15DG1972 PubMed: Anazi 2017 simplex case F yes Saudi Arabia - - - - - 1 Johan den Dunnen
-?/. - c.1147A>G r.(?) p.(Ser383Gly) Unknown - likely benign g.210678512A>G - UNC80(NM_032504.1):c.1147A>G (p.(Ser383Gly)) - UNC80_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1313T>C r.(?) p.(Leu438Pro) Unknown - VUS g.210680093T>C g.209815369T>C UNC80(NM_032504.1):c.1313T>C (p.(Leu438Pro)) - UNC80_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1564C>T r.(?) p.(Arg522Trp) Unknown - VUS g.210682547C>T - UNC80(NM_032504.1):c.1564C>T (p.R522W) - UNC80_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1620C>G r.(?) p.(Ser540=) Unknown - likely benign g.210682603C>G - UNC80(NM_032504.1):c.1620C>G (p.S540=, p.(Ser540=)) - UNC80_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1620C>G r.(?) p.(Ser540=) Unknown - likely benign g.210682603C>G - UNC80(NM_032504.1):c.1620C>G (p.S540=, p.(Ser540=)) - UNC80_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1693+365C>T r.(=) p.(=) Unknown - likely benign g.210683041C>T - UNC80(NM_001371986.1):c.1693+365C>T - UNC80_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1763A>C r.(?) p.(Tyr588Ser) Unknown - VUS g.210683786A>C - UNC80(NM_001371986.1):c.1763A>C (p.(Tyr588Ser)) - UNC80_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1806G>C r.(?) p.(Gln602His) Unknown - likely benign g.210683829G>C g.209819105G>C UNC80(NM_032504.1):c.1806G>C (p.Q602H), UNC80(NM_032504.2):c.1806G>C (p.Q602H) - UNC80_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1806G>C r.(?) p.(Gln602His) Unknown - VUS g.210683829G>C g.209819105G>C UNC80(NM_032504.1):c.1806G>C (p.Q602H), UNC80(NM_032504.2):c.1806G>C (p.Q602H) - UNC80_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1806G>C r.(?) p.(Gln602His) Unknown - VUS g.210683829G>C - UNC80(NM_032504.1):c.1806G>C (p.Q602H), UNC80(NM_032504.2):c.1806G>C (p.Q602H) - UNC80_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2012G>A r.(?) p.(Arg671His) Unknown - VUS g.210685084G>A - UNC80(NM_001371986.1):c.2012G>A (p.(Arg671His)) - UNC80_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.2033del r.(?) p.(Asn678Thrfs*15) Paternal (confirmed) - likely pathogenic g.210685105del g.209820381del - - UNC80_000005 - PubMed: Stray-Pedersen 2016, Journal: Stray-Pedersen 2016 - - Germline - - - - - DNA SEQ - - DD, ID 26708751 F3_II.1 PubMed: Stray-Pedersen A 2016, Journal: Stray-Pedersen A 2016 - F no Norway - >15y - - valproate, lamotrigine, levetiracetam, vagal nerve stimulator 1 Pieter Klap
+?/. 13 c.2033del r.(?) p.(Asn678Thrfs*15) Paternal (confirmed) - likely pathogenic g.210685105del g.209820381del - - UNC80_000005 - PubMed: Stray-Pedersen 2016, Journal: Stray-Pedersen 2016 - - Germline - - - - - DNA SEQ - - DD, ID 26708751 F3_II.2 PubMed: Stray-Pedersen A 2016, Journal: Stray-Pedersen A 2016 - F no Norway - >10y - - valproate 1 Pieter Klap
?/. - c.2213G>A r.(?) p.(Gly738Glu) Unknown - VUS g.210685285G>A - UNC80(NM_001371986.1):c.2213G>A (p.(Gly738Glu)) - UNC80_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2267A>T r.(?) p.(Asp756Val) Unknown - likely benign g.210685339A>T - UNC80(NM_032504.1):c.2267A>T (p.(Asp756Val)) - UNC80_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2273G>C r.(?) p.(Gly758Ala) Unknown - VUS g.210685345G>C - UNC80(NM_001371986.1):c.2273G>C (p.(Gly758Ala)) - UNC80_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2286_2294del r.(?) p.(Gly764_Gly766del) Unknown - VUS g.210685358_210685366del - UNC80(NM_032504.1):c.2286_2294delAGGTGGAGG (p.G764_G766del) - UNC80_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2382C>T r.(?) p.(Ile794=) Unknown - likely benign g.210690681C>T g.209825957C>T UNC80(NM_032504.1):c.2382C>T (p.I794=) - UNC80_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2471G>A r.(?) p.(Arg824Gln) Unknown - likely benign g.210690770G>A g.209826046G>A UNC80(NM_032504.1):c.2471G>A (p.(Arg824Gln)) - UNC80_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2534C>T r.(?) p.(Thr845Ile) Unknown - VUS g.210694011C>T - UNC80(NM_001371986.1):c.2534C>T (p.(Thr845Ile)) - UNC80_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2700C>T r.(?) p.(Ile900=) Unknown - likely benign g.210696240C>T - UNC80(NM_032504.1):c.2700C>T (p.I900=) - UNC80_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3043G>A r.(?) p.(Asp1015Asn) Unknown - VUS g.210703947G>A - UNC80(NM_001371986.1):c.3043G>A (p.(Asp1015Asn)) - UNC80_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3169C>T r.(?) p.(His1057Tyr) Unknown - VUS g.210704073C>T g.209839349C>T UNC80(NM_032504.1):c.3169C>T (p.H1057Y) - UNC80_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3205C>T r.(?) p.(Arg1069*) Unknown - pathogenic g.210704109C>T - UNC80(NM_182587.4):c.3190C>T (p.R1064*) - UNC80_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3256+3A>G r.spl? p.? Unknown - VUS g.210704163A>G g.209839439A>G UNC80(NM_032504.2):c.3256+3A>G - UNC80_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3356G>C r.(?) p.(Ser1119Thr) Unknown - VUS g.210705365G>C g.209840641G>C UNC80(NM_032504.1):c.3356G>C (p.S1119T, p.(Ser1119Thr)), UNC80(NM_032504.2):c.3356G>C (p.S1119T) - UNC80_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3356G>C r.(?) p.(Ser1119Thr) Unknown - likely benign g.210705365G>C g.209840641G>C UNC80(NM_032504.1):c.3356G>C (p.S1119T, p.(Ser1119Thr)), UNC80(NM_032504.2):c.3356G>C (p.S1119T) - UNC80_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3356G>C r.(?) p.(Ser1119Thr) Unknown - VUS g.210705365G>C - UNC80(NM_032504.1):c.3356G>C (p.S1119T, p.(Ser1119Thr)), UNC80(NM_032504.2):c.3356G>C (p.S1119T) - UNC80_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3434A>C r.(?) p.(Glu1145Ala) Unknown - likely benign g.210707144A>C - UNC80(NM_032504.1):c.3434A>C (p.(Glu1145Ala)) - UNC80_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3473T>G r.(?) p.(Phe1158Cys) Unknown - VUS g.210714187T>G - - - UNC80_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 23 c.3719G>A r.(?) p.(Trp1240*) Paternal (confirmed) - likely pathogenic g.210737567G>A g.209872843G>A - - UNC80_000011 - - - - Germline yes - - - - DNA SEQ-NG-I blood - ID P5 - - F no China - >02y11m - - - 1 Wenjuan Qiu
+?/. 23 c.3793C>T r.(?) p.(Arg1265*) Both (homozygous) - likely pathogenic g.210737641C>T g.209872917C>T - - UNC80_000006 - PubMed: Shamseldin HE 2016, Journal: Shamseldin HE 2016 - - Germline - - - - - DNA SEQ - - IE 26708753 F1_IV:5 PubMed: Shamseldin HE 2016, Journal: Shamseldin HE 2016 - M yes Saudi Arabia - >06y06m - - - 1 Pieter Klap
+?/. 23 c.3793C>T r.(?) p.(Arg1265*) Both (homozygous) - likely pathogenic g.210737641C>T g.209872917C>T - - UNC80_000006 - PubMed: Shamseldin 2016, Journal: Shamseldin 2016 - - Germline - - - - - DNA SEQ - - IE 26708753 F2_IV:1 PubMed: Shamseldin HE 2016, Journal: Shamseldin HE 2016 - M yes Saudi Arabia - >02y - - - 1 Pieter Klap
+?/. 23 c.3793C>T r.(?) p.(Arg1265*) Both (homozygous) - likely pathogenic g.210737641C>T g.209872917C>T - - UNC80_000006 - PubMed: Shamseldin 2016, Journal: Shamseldin 2016 - - Germline - - - - - DNA SEQ - - IE 26708753 F2_IV:2 PubMed: Shamseldin HE 2016, Journal: Shamseldin HE 2016 - M yes Saudi Arabia - >01y - - - 1 Pieter Klap
?/. - c.3793C>T r.(?) p.(Arg1265Ter) Unknown - VUS g.210737641C>T g.209872917C>T - - UNC80_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3793C>T r.(?) p.(Arg1265*) Both (homozygous) ACMG pathogenic g.210737641C>T g.209872917C>T - - UNC80_000006 ACMG PVS1, PS4, PM2, PP1 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 15DG1948 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.3793C>T r.(?) p.(Arg1265*) Both (homozygous) ACMG pathogenic g.210737641C>T g.209872917C>T - - UNC80_000006 ACMG PVS1, PS4, PM2, PP1 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 15DG0797 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
-?/. - c.3842G>C r.(?) p.(Gly1281Ala) Unknown - likely benign g.210737690G>C - UNC80(NM_032504.1):c.3842G>C (p.(Gly1281Ala)) - UNC80_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3846C>T r.(?) p.(Asp1282=) Unknown - likely benign g.210737694C>T - UNC80(NM_032504.1):c.3846C>T (p.D1282=) - UNC80_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3932C>T r.(?) p.(Thr1311Ile) Unknown - likely benign g.210742763C>T g.209878039C>T UNC80(NM_032504.1):c.3932C>T (p.(Thr1311Ile)) - UNC80_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3983-10C>G r.(=) p.(=) Unknown - likely benign g.210745675C>G - UNC80(NM_001371986.1):c.3977-10C>G - UNC80_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3983-4C>A r.spl? p.? Unknown - benign g.210745681C>A - UNC80(NM_032504.1):c.3983-4C>A - UNC80_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4117-5T>C r.spl? p.? Unknown - likely benign g.210752814T>C - UNC80(NM_032504.2):c.4117-5T>C - UNC80_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4374G>A r.(?) p.(Ser1458=) Unknown - likely benign g.210761128G>A g.209896404G>A UNC80(NM_032504.1):c.4374G>A (p.S1458=) - UNC80_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4435T>C r.(?) p.(Tyr1479His) Unknown - VUS g.210769540T>C - UNC80(NM_001371986.1):c.4633T>C (p.(Tyr1545His)) - UNC80_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4442A>G r.(?) p.(His1481Arg) Unknown - VUS g.210769547A>G g.209904823A>G UNC80(NM_032504.1):c.4442A>G (p.H1481R) - UNC80_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4687C>T r.(?) p.(Leu1563Phe) Unknown - VUS g.210777386C>T - UNC80(NM_001371986.1):c.4885C>T (p.(Leu1629Phe)) - UNC80_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4838T>C r.(?) p.(Met1613Thr) Unknown - VUS g.210782507T>C - - - UNC80_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 31 c.4926_4937del r.(?) p.(Asn1643_Leu1646del) Maternal (confirmed) - likely pathogenic g.210782595_210782606del g.209917871_209917882del - - UNC80_000012 - - - - Germline yes - - - - DNA SEQ-NG-I blood - ID P5 - - F no China - >02y11m - - - 1 Wenjuan Qiu
+?/. 31 c.4963C>T r.(?) p.(Arg1655Cys) Paternal (confirmed) - likely pathogenic g.210782632C>T g.209917908C>T - - UNC80_000014 - - - - Germline yes - - - - DNA SEQ-NG-I blood - ID P6 - - M no China - >09y - - - 1 Wenjuan Qiu
+/. - c.5093G>A r.(?) p.(Trp1698Ter) Unknown - pathogenic g.210783335G>A g.209918611G>A - - UNC80_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 32 c.5098C>T r.(?) p.(Pro1700Ser) Both (homozygous) - likely pathogenic g.210783340C>T g.209918616C>T - - UNC80_000007 - PubMed: Stray-Pedersen 2016, Journal: Stray-Pedersen 2016 - - Germline - - - - - DNA SEQ - - DD, ID 26708751 F1_IV.1 PubMed: Stray-Pedersen A 2016, Journal: Stray-Pedersen A 2016 - F yes Iraq - >04y - - clonazepam 1 Pieter Klap
-/. - c.5229G>C r.(?) p.(Lys1743Asn) Unknown - benign g.210786307G>C - UNC80(NM_032504.1):c.5229G>C (p.(Lys1743Asn)) - UNC80_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5263G>A r.(?) p.(Ala1755Thr) Unknown - VUS g.210786341G>A - UNC80(NM_032504.2):c.5263G>A (p.A1755T) - UNC80_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5301A>G r.(?) p.(Thr1767=) Unknown - likely benign g.210786379A>G g.209921655A>G UNC80(NM_032504.1):c.5301A>G (p.T1767=) - UNC80_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5761C>T r.(?) p.(Pro1921Ser) Unknown - VUS g.210795743C>T - UNC80(NM_001371986.1):c.5959C>T (p.(Pro1987Ser)) - UNC80_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(?_5986)_(6717+199_?)del r.? p.? Paternal (confirmed) - pathogenic (recessive) g.(?_210800443)_(210806412_?)del g.(?_209935719)_(209941688_?)del - - UNC80_000093 - - - - Germline - - - - - DNA arrayCNV Blood - IHPRF2 - - - - no Italy - - - - - 2 Mario Benvenuto
-?/. - c.6100C>T r.(?) p.(Pro2034Ser) Unknown - likely benign g.210801592C>T - UNC80(NM_032504.1):c.6100C>T (p.P2034S) - UNC80_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6278G>A r.(?) p.(Arg2093Gln) Unknown - VUS g.210804206G>A - UNC80(NM_001371986.1):c.6476G>A (p.(Arg2159Gln)) - UNC80_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6449-6T>C r.(=) p.(=) Unknown - likely benign g.210805939T>C g.209941215T>C UNC80(NM_032504.1):c.6449-6T>C (p.(=)) - UNC80_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6559A>G r.(?) p.(Met2187Val) Unknown - VUS g.210806055A>G - UNC80(NM_001371986.1):c.6757A>G (p.(Met2253Val)) - UNC80_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6785A>G r.(?) p.(Tyr2262Cys) Unknown - VUS g.210808171A>G - UNC80(NM_001371986.1):c.6983A>G (p.(Tyr2328Cys)) - UNC80_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7020A>G r.(?) p.(Thr2340=) Unknown - benign g.210810599A>G - UNC80(NM_032504.1):c.7020A>G (p.T2340=) - UNC80_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7117T>A r.(?) p.(Leu2373Ile) Unknown - likely benign g.210818852T>A - UNC80(NM_032504.1):c.7117T>A (p.L2373I) - UNC80_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7272C>T r.(?) p.(Ala2424=) Unknown - likely benign g.210822380C>T g.209957656C>T UNC80(NM_032504.1):c.7272C>T (p.A2424=) - UNC80_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 50 c.7607G>C r.(?) p.(Arg2536Thr) Both (homozygous) - likely pathogenic g.210824431G>C g.209959707G>C - - UNC80_000008 predicted to cause aberrant splicing PubMed: Stray-Pedersen 2016, Journal: Stray-Pedersen 2016 - - Germline - - - - - DNA SEQ - - DD, ID 26708751 F2_V.5 PubMed: Stray-Pedersen A 2016, Journal: Stray-Pedersen A 2016 - F yes Morocco - >04y - - valproate, rivotril 1 Pieter Klap
+/. - c.7607G>C r.(?) p.(Arg2536Thr) Unknown - pathogenic g.210824431G>C - UNC80(NM_032504.2):c.7607G>C (p.R2536T) - UNC80_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7684C>T r.(?) p.(Arg2562Cys) Unknown - VUS g.210832237C>T - UNC80(NM_032504.1):c.7684C>T (p.R2562C) - UNC80_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.7697A>C r.(?) p.(Glu2566Ala) Both (homozygous) - likely pathogenic g.210832250A>C g.209967526A>C NM_032504.1:c.7697A>C; p.(Glu2566Ala) - UNC80_000062 - PubMed: Nair 2018 - - Unknown ? - - - - DNA SEQ-NG-I - whole exome sequencing IHPRF2 ? PubMed: Nair 2018 - ? - Lebanon - - - - - 1 LOVD
+?/. 51 c.7757T>A r.(?) p.(Leu2586*) Maternal (confirmed) - likely pathogenic g.210832310T>A g.209967586T>A - - UNC80_000009 - PubMed: Stray-Pedersen 2016, Journal: Stray-Pedersen 2016 - - Germline - - - - - DNA SEQ - - DD, ID 26708751 F3_II.1 PubMed: Stray-Pedersen A 2016, Journal: Stray-Pedersen A 2016 - F no Norway - >15y - - valproate, lamotrigine, levetiracetam, vagal nerve stimulator 1 Pieter Klap
+/. 51 c.7757T>A r.(?) p.(Leu2586*) Maternal (confirmed) - likely pathogenic g.210832310T>A g.209967586T>A - - UNC80_000009 - PubMed: Stray-Pedersen 2016, Journal: Stray-Pedersen 2016 - - Germline - - - - - DNA SEQ - - DD, ID 26708751 F3_II.2 PubMed: Stray-Pedersen A 2016, Journal: Stray-Pedersen A 2016 - F no Norway - >10y - - valproate 1 Pieter Klap
?/. - c.8126G>A r.(?) p.(Gly2709Glu) Unknown - VUS g.210836992G>A - UNC80(NM_032504.1):c.8126G>A (p.(Gly2709Glu)) - UNC80_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 55 c.8216_8228del r.(?) p.(Leu2739GlnfsTer22) Both (homozygous) - likely pathogenic g.210837821_210837833del g.209973097_209973109del c.8215_8227del - UNC80_000061 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-6581 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.8254C>T r.(?) p.(Arg2752Trp) Unknown - VUS g.210837859C>T g.209973135C>T UNC80(NM_032504.1):c.8254C>T (p.R2752W) - UNC80_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8263A>G r.(?) p.(Ser2755Gly) Unknown - VUS g.210837868A>G - - - UNC80_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8330C>T r.(?) p.(Ala2777Val) Unknown - VUS g.210837935C>T g.209973211C>T UNC80(NM_032504.1):c.8330C>T (p.A2777V) - UNC80_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8337A>G r.(?) p.(Lys2779=) Unknown - likely benign g.210837942A>G - UNC80(NM_032504.1):c.8337A>G (p.K2779=) - UNC80_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 55 c.8385C>G r.(?) p.(Tyr2795*) Maternal (confirmed) - likely pathogenic g.210837990C>G g.209973266C>G - - UNC80_000013 - - - - Germline yes - - - - DNA SEQ-NG-I blood - ID P6 - - M no China - >09y - - - 1 Wenjuan Qiu
?/. - c.8391G>A r.(?) p.(Ala2797=) Unknown - VUS g.210840844G>A g.209976120G>A UNC80(NM_032504.2):c.8391G>A (p.A2797=) - UNC80_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8427C>T r.(?) p.(Leu2809=) Unknown - likely benign g.210840880C>T - UNC80(NM_032504.1):c.8427C>T (p.L2809=) - UNC80_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.8574+2T>G r.spl? p.? Both (homozygous) - likely pathogenic (dominant) g.210841029T>G g.209976305T>G - - UNC80_000050 - PubMed: Lee 2019 ClinVar-000622165.2 - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood, fibroblast WES ? Pat3 PubMed: Lee 2019 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.8626A>G r.(?) p.(Ile2876Val) Unknown - VUS g.210841688A>G g.209976964A>G UNC80(NM_032504.1):c.8626A>G (p.I2876V, p.(Ile2876Val)) - UNC80_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


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