Full data view for gene AMT

Information The variants shown are described using the NM_000481.3 transcript reference sequence.

299 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     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.-3530C>T r.(?) p.(=) Unknown - VUS g.49463413G>A g.49425980G>A NICN1(NM_032316.3):c.326C>T (p.(Ala109Val)) - NICN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2527A>G r.(?) p.(=) Unknown - likely benign g.49462410T>C g.49424977T>C NICN1(NM_032316.3):c.572A>G (p.(His191Arg)) - NICN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-76G>C r.(?) p.(=) Unknown - VUS g.49459959C>G - AMT(NM_000481.3):c.-76G>C - AMT_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.-66A>G r.(=) p.(=) Parent #1 - pathogenic g.49459949T>C g.49422516T>C 1-66A>G - AMT_000036 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - United States - - 0 - - 1 Johan Van Hove
+/. 1 c.-64A>G r.(=) p.(=) Parent #1 - pathogenic g.49459947T>C g.49422514T>C 1-64A>G - AMT_000035 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - United States - - 0 - - 1 Johan Van Hove
+/. 1 c.-58C>T r.(=) p.(=) Parent #1 - pathogenic g.49459941G>A g.49422508G>A 1-58C>T - AMT_000034 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Turkey - - 0 - - 1 Johan Van Hove
+/. 1 c.-58C>T r.(=) p.(=) Parent #2 - pathogenic g.49459941G>A g.49422508G>A 1-58C>T - AMT_000034 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Turkey - - 0 - - 1 Johan Van Hove
?/? 1 c.-55C>T r.(?) p.(=) Maternal (confirmed) - VUS g.49459938G>A g.49422505G>A - - AMT_000001 1 GCE patient (com-het) PubMed: Pardal-Fernandez et al. 2009 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.-55C>T r.(=) p.(=) Parent #1 - pathogenic g.49459938G>A g.49422505G>A 1-55C>T - AMT_000001 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - France - - 0 - - 1 Johan Van Hove
+/. 1 c.-55C>T r.(=) p.(=) Parent #1 - pathogenic g.49459938G>A g.49422505G>A 1-55C>T - AMT_000001 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - United States - - 0 - - 1 Johan Van Hove
+/. 1 c.2T>C r.(?) p.(Met1?) Parent #1 - pathogenic g.49459882A>G g.49422449A>G - - AMT_000033 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - United States - - 0 - - 1 Johan Van Hove
+/. 1 c.2T>C r.(?) p.(Met1?) Parent #1 - pathogenic g.49459882A>G g.49422449A>G - - AMT_000033 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - United States - - 0 - - 1 Johan Van Hove
+/. 1 c.2T>C r.(?) p.(Met1?) Parent #1 - pathogenic g.49459882A>G g.49422449A>G - - AMT_000033 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - France - - 0 - - 1 Johan Van Hove
+/. 1 c.2T>C r.(?) p.(Met1?) Parent #1 - pathogenic g.49459882A>G g.49422449A>G - - AMT_000033 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - - Magrheb - 0 - - 1 Johan Van Hove
+/. 1 c.2T>C r.(?) p.(Met1?) Parent #2 - pathogenic g.49459882A>G g.49422449A>G - - AMT_000033 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - United States - - 0 - - 1 Johan Van Hove
+/. 1 c.2T>C r.(?) p.(Met1?) Parent #2 - pathogenic g.49459882A>G g.49422449A>G - - AMT_000033 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - United States - - 0 - - 1 Johan Van Hove
+/. 1 c.2T>C r.(?) p.(Met1?) Parent #2 - pathogenic g.49459882A>G g.49422449A>G - - AMT_000033 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - - Magrheb - 0 - - 1 Johan Van Hove
+/. 1 c.4C>T r.(?) p.(Gln2*) Parent #2 - pathogenic g.49459880G>A g.49422447G>A - - AMT_000032 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - France - - 0 - - 1 Johan Van Hove
+/. 1 c.14dup r.(?) p.(Ser6Lysfs*22) Parent #1 - pathogenic g.49459870dup g.49422437dup - - AMT_000031 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - France - - 0 - - 1 Johan Van Hove
+/. 1 c.14dup r.(?) p.(Ser6Lysfs*22) Parent #2 - pathogenic g.49459870dup g.49422437dup - - AMT_000031 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - France - - 0 - - 1 Johan Van Hove
+/. 1 c.15_18del r.(?) p.(Ser6Trpfs*89) Parent #1 - pathogenic g.49459868_49459871del g.49422435_49422438del 15_18delAAGT - AMT_000028 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - India - - 0 - - 1 Johan Van Hove
+/. 1 c.15_18del r.(?) p.(Ser6Trpfs*89) Parent #1 - pathogenic g.49459868_49459871del g.49422435_49422438del 15_18delAAGT - AMT_000028 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - - Europe, eastern - 0 - - 1 Johan Van Hove
+/. 1 c.15_18del r.(?) p.(Ser6Trpfs*89) Parent #1 - pathogenic g.49459868_49459871del g.49422435_49422438del - - AMT_000030 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Germany - - 0 - - 1 Johan Van Hove
+/. 1 c.15_18del r.(?) p.(Ser6Trpfs*89) Parent #1 - pathogenic g.49459868_49459871del g.49422435_49422438del 15_18delAAGT - AMT_000028 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Turkey - - 0 - - 1 Johan Van Hove
+/. 1 c.15_18del r.(?) p.(Ser6Trpfs*89) Parent #2 - pathogenic g.49459868_49459871del g.49422435_49422438del 15_18delAAGT - AMT_000028 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - India - - 0 - - 1 Johan Van Hove
+/. 1 c.15_18del r.(?) p.(Ser6Trpfs*89) Parent #2 - pathogenic g.49459868_49459871del g.49422435_49422438del 15_18del4 - AMT_000028 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - France - - 0 - - 1 Johan Van Hove
+/. 1 c.15_18del r.(?) p.(Ser6Trpfs*89) Parent #2 - pathogenic g.49459868_49459871del g.49422435_49422438del 15_18delAAGT - AMT_000028 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Turkey - - 0 - - 1 Johan Van Hove
+/. - c.15_18del r.(?) p.(Ser6TrpfsTer89) Unknown - pathogenic g.49459868_49459871del g.49422435_49422438del - - AMT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.16del r.(?) p.(Ser6Valfs*90) Parent #1 - pathogenic g.49459869del g.49422436del - - AMT_000029 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - United States - - 0 - - 1 Johan Van Hove
+/. 1 c.16del r.(?) p.(Ser6Valfs*90) Parent #2 - pathogenic g.49459869del g.49422436del - - AMT_000029 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - United States - - 0 - - 1 Johan Van Hove
+/+ 1 c.59del r.(?) p.(Pro20Argfs*76) Paternal (confirmed) - pathogenic g.49459830del g.49422397del 183delC, c.54delC - AMT_000002 1 Japanese GCE family with 3 patients (P25; com-het) PubMed: Kure et al.1998, PubMed: Kure et al. 2006 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1 c.61del r.(?) p.(Ala21Profs*75) Unknown - pathogenic g.49459824del g.49422391del c.60delG - AMT_000003 1 Caucasian GCE family (P30; com-het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1 c.63del r.(?) p.(Leu22Cysfs*74) Unknown - pathogenic g.49459822del g.49422389del c.61delC - AMT_000004 No C in position 61, nex C:s in positions c.62_63; 1 Oriental GCE family (P91; com-het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.101G>A r.(?) p.(Arg34His) Unknown - VUS g.49459694C>T g.49422261C>T AMT(NM_000481.3):c.101G>A (p.R34H) - AMT_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.125A>G r.(125a>g) p.(His42Arg) Both (homozygous) - pathogenic g.49459670T>C g.49422237T>C - - AMT_000005 1 Israeli-Arab GCE family (hom) PubMed: Kure et al. 1998, PubMed: Kure et al. 2006 - rs121964983 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.139G>A r.(139g>a) p.(Gly47Arg) Paternal (confirmed) - pathogenic g.49459656C>T g.49422223C>T - - AMT_000006 1 GCE family (com-het) PubMed: Nanao et al. 1994 - rs121964982 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.139G>A r.(?) p.(Gly47Arg) Parent #1 - pathogenic g.49459656C>T g.49422223C>T - - AMT_000006 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - France - - 0 - - 1 Johan Van Hove
+/. 2 c.139G>A r.(?) p.(Gly47Arg) Parent #1 - pathogenic g.49459656C>T g.49422223C>T - - AMT_000006 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - France - - 0 - - 1 Johan Van Hove
+/. 2 c.139G>A r.(?) p.(Gly47Arg) Parent #1 - pathogenic g.49459656C>T g.49422223C>T - - AMT_000006 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - France - - 0 - - 1 Johan Van Hove
+/. 2 c.139G>A r.(?) p.(Gly47Arg) Parent #2 - pathogenic g.49459656C>T g.49422223C>T - - AMT_000006 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Greece - - 0 - - 1 Johan Van Hove
+/+ 2 c.139G>T r.(139g>u) p.(Gly47Trp) Unknown - pathogenic g.49459656C>A g.49422223C>A - - AMT_000008 1 Caucasian GCE family (P34; het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.148del r.(?) p.(Val50Trpfs*46) Unknown - pathogenic g.49459648del g.49422215del c.147delG - AMT_000009 1 Oriental GCE family (P115; com-het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.178_181del r.(?) p.(Gln60Thrfs*35) Parent #1 - pathogenic g.49459614_49459617del g.49422181_49422184del 178_181delCAGT - AMT_000074 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Greece - - 0 - - 1 Johan Van Hove
+/. 2 c.178_181del r.(?) p.(Gln60Thrfs*35) Parent #2 - pathogenic g.49459614_49459617del g.49422181_49422184del 178_181delCAGT - AMT_000074 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Greece - - 0 - - 1 Johan Van Hove
?/. - c.203C>T r.(?) p.(Ser68Leu) Unknown - VUS g.49459592G>A g.49422159G>A AMT(NM_000481.3):c.203C>T (p.S68L) - AMT_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.212A>C r.(212a>c) p.(His71Pro) Unknown - pathogenic g.49459583T>G g.49422150T>G - - AMT_000010 1 Caucasian GCE family (P75; com-het) PubMed: Kure et al. 2006 - rs149105054 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.212A>C r.(?) p.(His71Pro) Parent #1 - pathogenic g.49459583T>G g.49422150T>G - - AMT_000010 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Greece - - 0 - - 1 Johan Van Hove
+/. 2 c.212A>C r.(?) p.(His71Pro) Parent #2 - pathogenic g.49459583T>G g.49422150T>G - - AMT_000010 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - United Kingdom (Great Britain) India - 0 - - 1 Johan Van Hove
+/+ 2 c.217C>T r.(217c>u) p.(Arg73Cys) Unknown - pathogenic g.49459578G>A g.49422145G>A - - AMT_000011 1 Caucasian GCE family (P75; com-het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.217C>T r.(?) p.(Arg73Cys) Parent #1 - pathogenic g.49459578G>A g.49422145G>A - - AMT_000011 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Portugal - - 0 - - 1 Johan Van Hove
+/. 2 c.217C>T r.(?) p.(Arg73Cys) Parent #1 - pathogenic g.49459578G>A g.49422145G>A - - AMT_000011 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - France - - 0 - - 1 Johan Van Hove
+/. 2 c.217C>T r.(?) p.(Arg73Cys) Parent #1 - pathogenic g.49459578G>A g.49422145G>A - - AMT_000011 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Serbia - - 0 - - 1 Johan Van Hove
+/. 2 c.217C>T r.(?) p.(Arg73Cys) Parent #1 - pathogenic g.49459578G>A g.49422145G>A - - AMT_000011 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - France - - 0 - - 1 Johan Van Hove
+/. 2 c.217C>T r.(?) p.(Arg73Cys) Parent #2 - pathogenic g.49459578G>A g.49422145G>A - - AMT_000011 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Brazil - - 0 - - 1 Johan Van Hove
+/. 2 c.217C>T r.(?) p.(Arg73Cys) Parent #2 - pathogenic g.49459578G>A g.49422145G>A - - AMT_000011 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Portugal - - 0 - - 1 Johan Van Hove
+/. 2 c.217C>T r.(?) p.(Arg73Cys) Parent #2 - pathogenic g.49459578G>A g.49422145G>A - - AMT_000011 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Germany - - 0 - - 1 Johan Van Hove
+/. 2 c.217C>T r.(?) p.(Arg73Cys) Parent #2 - pathogenic g.49459578G>A g.49422145G>A - - AMT_000011 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - France - - 0 - - 1 Johan Van Hove
+/+ 2 c.230C>T r.(230c>u) p.(Ser77Leu) Both (homozygous) - pathogenic g.49459565G>A g.49422132G>A - - AMT_000012 1 Caucasian GCE family (P21; hom) PubMed: Kure et al. 2006 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.230C>T r.(?) p.(Ser77Leu) Parent #1 - pathogenic g.49459565G>A g.49422132G>A - - AMT_000012 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - United States - - 0 - - 1 Johan Van Hove
+/. 2 c.230C>T r.(?) p.(Ser77Leu) Parent #2 - pathogenic g.49459565G>A g.49422132G>A - - AMT_000012 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - United States - - 0 - - 1 Johan Van Hove
+/. 2 c.230C>T r.(?) p.(Ser77Leu) Parent #2 - pathogenic g.49459565G>A g.49422132G>A - - AMT_000012 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - United States - - 0 - - 1 Johan Van Hove
+/. 2 c.230C>T r.(?) p.(Ser77Leu) Parent #2 - pathogenic g.49459565G>A g.49422132G>A - - AMT_000012 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - France - - 0 - - 1 Johan Van Hove
+/. 2 c.248A>G r.(?) p.(His83Arg) Parent #1 - pathogenic g.49459547T>C g.49422114T>C - - AMT_000073 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Portugal - - 0 - - 1 Johan Van Hove
+/. 2 c.248A>G r.(?) p.(His83Arg) Parent #1 - pathogenic g.49459547T>C g.49422114T>C - - AMT_000073 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Portugal - - 0 - - 1 Johan Van Hove
+/. 2 c.248A>G r.(?) p.(His83Arg) Parent #2 - pathogenic g.49459547T>C g.49422114T>C - - AMT_000073 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Portugal - - 0 - - 1 Johan Van Hove
+/. 2 c.248A>G r.(?) p.(His83Arg) Parent #2 - pathogenic g.49459547T>C g.49422114T>C - - AMT_000073 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Portugal - - 0 - - 1 Johan Van Hove
-?/. - c.258+242A>G r.(=) p.(=) Unknown - likely benign g.49459295T>C g.49421862T>C AMT(NM_000481.3):c.258+242A>G - AMT_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.259-109T>G r.(=) p.(=) Unknown - likely benign g.49459114A>C g.49421681A>C AMT(NM_000481.3):c.259-109T>G - AMT_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2i c.259-1G>C r.spl? p.? Paternal (confirmed) - pathogenic g.49459006C>G g.49421573C>G IVS2-1G>C - AMT_000013 1 GCE family (com-het) PubMed: Pardal-Fernandez et al. 2009 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2i c.259-1G>C r.spl? p.? Parent #1 - pathogenic g.49459006C>G g.49421573C>G IVS2-1G>C - AMT_000013 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Spain - - 0 - - 1 Johan Van Hove
+/. 2i c.259-1G>C r.spl? p.(Thr87_Gln113del) Parent #2 - pathogenic g.49459006C>G g.49421573C>G 259-1>C - AMT_000013 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Spain - - 0 - - 1 Johan Van Hove
+/. 3 c.280C>T r.(?) p.(Arg94Trp) Parent #1 - pathogenic g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - United States - - 0 - - 1 Johan Van Hove
+/. 3 c.280C>T r.(?) p.(Arg94Trp) Parent #1 - pathogenic g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - United States - - 0 - - 1 Johan Van Hove
+/. 3 c.280C>T r.(?) p.(Arg94Trp) Parent #1 - pathogenic g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Turkey - - 0 - - 1 Johan Van Hove
+/. 3 c.280C>T r.(?) p.(Arg94Trp) Parent #1 - pathogenic g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Spain - - 0 - - 1 Johan Van Hove
+/. 3 c.280C>T r.(?) p.(Arg94Trp) Parent #2 - pathogenic g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - United States - - 0 - - 1 Johan Van Hove
+/. 3 c.280C>T r.(?) p.(Arg94Trp) Parent #2 - pathogenic g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - United States - - 0 - - 1 Johan Van Hove
+/. 3 c.280C>T r.(?) p.(Arg94Trp) Parent #2 - pathogenic g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - United States - - 0 - - 1 Johan Van Hove
+/. 3 c.280C>T r.(?) p.(Arg94Trp) Parent #2 - pathogenic g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Turkey - - 0 - - 1 Johan Van Hove
+/. 3 c.280C>T r.(?) p.(Arg94Trp) Parent #2 - pathogenic g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Spain - - 0 - - 1 Johan Van Hove
+?/. 3 c.280C>T r.280c>u p.Arg94Trp Unknown - likely pathogenic g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - DNA, RNA SEQ - - - - CEDEM - - - - - - 0 - - 1 Pilar Rodriguez Pombo
+/. 3 c.293T>G r.(?) p.(Met98Arg) Parent #1 - pathogenic g.49458971A>C g.49421538A>C - - AMT_000071 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Italy - - 0 - - 1 Johan Van Hove
+/. 3 c.293T>G r.(?) p.(Met98Arg) Parent #2 - pathogenic g.49458971A>C g.49421538A>C - - AMT_000071 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Italy - - 0 - - 1 Johan Van Hove
+/. 3 c.317T>C r.(?) p.(Ile106Thr) Parent #1 - pathogenic g.49458947A>G g.49421514A>G - - AMT_000070 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Netherlands - - 0 - - 1 Johan Van Hove
+/. 3 c.317T>C r.(?) p.(Ile106Thr) Parent #1 - pathogenic g.49458947A>G g.49421514A>G - - AMT_000070 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Netherlands - - 0 - - 1 Johan Van Hove
+/. 3 c.317T>C r.(?) p.(Ile106Thr) Parent #1 - pathogenic g.49458947A>G g.49421514A>G - - AMT_000070 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Netherlands - - 0 - - 1 Johan Van Hove
+/. 3 c.317T>C r.(?) p.(Ile106Thr) Parent #1 - pathogenic g.49458947A>G g.49421514A>G - - AMT_000070 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Netherlands - - 0 - - 1 Johan Van Hove
+/. 3 c.317T>C r.(?) p.(Ile106Thr) Parent #2 - pathogenic g.49458947A>G g.49421514A>G - - AMT_000070 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Netherlands - - 0 - - 1 Johan Van Hove
?/. - c.317T>C r.(?) p.(Ile106Thr) Unknown - VUS g.49458947A>G g.49421514A>G AMT(NM_000481.3):c.317T>C (p.I106T) - AMT_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.317T>C r.(?) p.(Ile106Thr) Unknown - pathogenic g.49458947A>G - AMT(NM_000481.3):c.317T>C (p.I106T) - AMT_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.339+3G>A r.spl? p.? Unknown - likely benign g.49458922C>T - AMT(NM_000481.3):c.339+3G>A - AMT_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.340-1G>A r.spl p.? Parent #2 - pathogenic g.49457776C>T g.49420343C>T IVS3-1G>A - AMT_000069 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Spain - - 0 - - 1 Johan Van Hove
+/. 3i c.340-1G>A r.spl p.(Gly114_GlyLeun157del) Parent #2 - pathogenic g.49457776C>T g.49420343C>T - - AMT_000069 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Spain - - 0 - - 1 Johan Van Hove
+/. 4 c.350C>T r.(?) p.(Ser117Leu) Parent #2 - pathogenic g.49457765G>A g.49420332G>A - - AMT_000068 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - - - - 0 - - 1 Johan Van Hove
+/. 4 c.350C>T r.(?) p.(Ser117Leu) Parent #2 - pathogenic g.49457765G>A g.49420332G>A - - AMT_000068 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Germany - - 0 - - 1 Johan Van Hove
+/. 4 c.350C>T r.(?) p.(Ser117Leu) Parent #2 - pathogenic g.49457765G>A g.49420332G>A - - AMT_000068 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - France - - 0 - - 1 Johan Van Hove
+/. 4 c.350C>T r.(?) p.(Ser117Leu) Parent #2 - pathogenic g.49457765G>A g.49420332G>A - - AMT_000068 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Serbia - - 0 - - 1 Johan Van Hove
-?/. - c.354G>A r.(?) p.(Leu118=) Unknown - likely benign g.49457761C>T g.49420328C>T AMT(NM_000481.3):c.354G>A (p.L118=, p.=) - AMT_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.354G>A r.(?) p.(Leu118=) Unknown - likely benign g.49457761C>T g.49420328C>T AMT(NM_000481.3):c.354G>A (p.L118=, p.=) - AMT_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.395_400del r.(?) p.(Val132_Asn134delinsAsp) Parent #1 - pathogenic g.49457715_49457720del g.49420282_49420287del 395_400del6 - AMT_000067 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - Spain - - 0 - - 1 Johan Van Hove
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »