Full data view for gene AMPD2

Information The variants shown are described using the NM_001257360.1 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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.111C>G r.(?) p.(Gly37=) Unknown - likely benign g.110163746C>G - AMPD2(NM_001308170.1):c.17C>G (p.A6G) - AMPD2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170C>T r.(?) p.(Ser57Phe) Unknown - VUS g.110163805C>T - AMPD2(NM_001368809.2):c.8C>T (p.(Ser3Phe)) - AMPD2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.281C>G r.(?) p.(Pro94Arg) Unknown - VUS g.110167952C>G - AMPD2(NM_001368809.2):c.119C>G (p.(Pro40Arg)) - AMPD2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.319del r.(?) p.(Cys107Alafs*80) Both (homozygous) - pathogenic g.110167990del g.109625368del 110167989CT>C - AMPD2_000001 - PubMed: Novarino 2014, Journal: Novarino 2014, OMIM:var0001 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Novarino 2014, Journal: Novarino 2014 6-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents F;M yes - - - - - - 2 Johan den Dunnen
-?/. - c.385-3dup r.spl? p.? Unknown - likely benign g.110168281dup - AMPD2(NM_001368809.2):c.223-3dup - AMPD2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.495del r.(?) p.(Gln166Argfs*21) Both (homozygous) - likely pathogenic g.110168394del g.109625772del c.495delG (p.R165fs*21) - AMPD2_000024 - PubMed: Accogli 2017 - - Germline yes - - - - DNA SEQ-NG-I - - PCH9 - PubMed: Accogli 2017 The probands are 2 girls (IV:1, aged 9 years and IV:3 aged 8 years) and 1 boy (IV:2, aged 7 years) born to first-cousin parents from the Middle East - yes - Middle Eastern - - - - 1 Ashley Marsh
+?/. - c.528del r.(?) p.(Asp176GlufsTer11) Unknown - likely pathogenic g.110168794del g.109626172del AMPD2(NM_001257360.1):c.528delC (p.D176Efs*11) - AMPD2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.682G>T r.(?) p.(Glu228*) Maternal (confirmed) - likely pathogenic g.110169038G>T g.109626416G>T - - AMPD2_000006 - - - - Germline yes - - - - DNA SEQ-NG - WES PCH9 - - two-generation family with two affected brothers, healthy non-consanguineous parents M no - - - - - - 2 Fanny Kortüm
+?/. - c.693+2T>G r.spl? p.? Unknown - likely pathogenic g.110169051T>G g.109626429T>G - - AMPD2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.715G>C r.(?) p.(Asp239His) Unknown - VUS g.110169369G>C - AMPD2(NM_001368809.2):c.553G>C (p.(Asp185His)) - AMPD2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.751C>T r.(?) p.(Arg251Trp) Both (homozygous) - pathogenic g.110169405C>T g.109626783C>T - - AMPD2_000020 - PubMed: Marsh 2017 - - Germline yes - - - - DNA SEQ-NG-I - - PCH9 II-1 PubMed: Marsh 2017 - M yes - Middle Eastern 02y - - - 1 Ashley Marsh
+?/. - c.751C>T r.(?) p.(Arg251Trp) Unknown - likely pathogenic g.110169405C>T g.109626783C>T AMPD2(NM_001257360.1):c.751C>T (p.R251W) - AMPD2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.792del r.(?) p.(Thr265Profs*98) Unknown - pathogenic g.110169446del - AMPD2(NM_001368809.2):c.630delC (p.T211Pfs*98) - AMPD2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.870T>G r.(?) p.(Pro290=) Unknown - VUS g.110169524T>G - AMPD2(NM_001368809.2):c.708T>G (p.(Pro236=)) - AMPD2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1022+19A>G r.(=) p.(=) Unknown - benign g.110169957A>G g.109627335A>G AMPD2(NM_001257360.1):c.1022+19A>G - AMPD2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1047C>A r.(?) p.(Tyr349*) Both (homozygous) - pathogenic g.110170075C>A g.109627453C>A - - AMPD2_000025 - PubMed: Akizu 2013 - - Germline yes - - - - DNA SEQ-NG-I - - PCH9 PCH/CCH‐1298‐4‐2 PubMed: Akizu 2013 - M yes Saudi Arabia - - - - - 1 Ashley Marsh
+?/. 4i c.1112+1G>A r.spl p.? Unknown - likely pathogenic g.110170141G>A g.109627519G>A - - AMPD2_000022 compound heterozygous with c.1664C>T PubMed: Severino 2017 - - Germline - - - - - DNA SEQ-NG-I - - PCH9 - PubMed: Severino 2017 - F no - - 03y - - - 1 Ashley Marsh
?/. 10 c.1132C>T r.(?) p.(Arg378Trp) Both (homozygous) - VUS g.110170415C>T g.109627793C>T - - AMPD2_000008 - - - - Germline - - - - - DNA SEQ-NG - WES PCH9 - - - M yes India - - - - - 1 Fanny Kortüm
?/. 10 c.1133G>C r.(?) p.(Arg378Pro) Maternal (confirmed) - VUS g.110170416G>C g.109627794G>C - - AMPD2_000004 - - - - Germline yes - - - - DNA SEQ-NG - WES PCH9 - - two-generation family with 2 affecteds (sister and brother) F no - - - - - - 2 Fanny Kortüm
?/. 10 c.1232A>G r.(?) p.(Asn411Ser) Paternal (confirmed) - VUS g.110170515A>G g.109627893A>G - - AMPD2_000005 - - - - Germline yes - - - - DNA SEQ-NG - WES PCH9 - - two-generation family with 2 affecteds (sister and brother) F no - - - - - - 2 Fanny Kortüm
+?/. - c.1265C>T r.(?) p.(Ser422Leu) Unknown - likely pathogenic g.110170727C>T g.109628105C>T - - AMPD2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1266G>A r.(?) p.(Ser422=) Unknown - benign g.110170728G>A g.109628106G>A AMPD2(NM_001257360.1):c.1266G>A (p.S422=) - AMPD2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1424_1436dup r.(?) p.(Asp480Glyfs*13) Both (homozygous) - likely pathogenic g.110170886_110170898dup g.109628264_109628276dup - - AMPD2_000002 - - - - Germline - - - - - DNA SEQ-NG-I blood WES PCH9 - - - M yes Turkey - 00y13m - - - 1 Fanny Kortüm
-/. - c.1434T>C r.(?) p.(His478=) Unknown - benign g.110170896T>C g.109628274T>C AMPD2(NM_001257360.1):c.1434T>C (p.H478=) - AMPD2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1569+3A>G r.spl? p.? Unknown - likely benign g.110171120A>G - AMPD2(NM_001257360.1):c.1569+3A>G - AMPD2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1619G>A r.(?) p.(Arg540Gln) Both (homozygous) ACMG likely pathogenic g.110171314G>A g.109628692G>A - - AMPD2_000039 ACMG PM1, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 13DG0104 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
?/. - c.1639T>C r.(?) p.(Ser547Pro) Both (homozygous) ACMG VUS g.110171334T>C - - - AMPD2_000035 ACMG grading: PM2,PP3 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
?/. 13 c.1648G>A r.(?) p.(Glu550Lys) Both (homozygous) - likely pathogenic g.110171343G>A g.109628721G>A - - AMPD2_000003 - - - - Germline - - - - - DNA SEQ-NG - WES PCH9 - - - M yes Sri Lanka - - - - - 1 Fanny Kortüm
+/. 12 c.1654del r.(?) p.(Asp552Thrfs*67) Unknown - pathogenic g.110171349del g.109628727del 1652delG (Asp552Thrfs*66) - AMPD2_000026 - PubMed: Akizu 2013 - - Germline yes - - - - DNA SEQ-NG-I - - PCH9 PCH‐1022‐3‐2 PubMed: Akizu 2013 - F yes Turkey - - - - - 1 Ashley Marsh
+?/. 12 c.1664C>T r.(?) p.(Ala555Val) Unknown - likely pathogenic g.110171359C>T g.109628737C>T - - AMPD2_000023 compound heterozygous with c.1112+1G>A PubMed: Severino 2017 - - Germline - - - - - DNA SEQ-NG-I - - PCH9 - PubMed: Severino 2017 - F no - - 03y - - - 1 Ashley Marsh
-?/. - c.1806C>T r.(?) p.(Phe602=) Unknown - likely benign g.110171803C>T g.109629181C>T AMPD2(NM_001257360.1):c.1806C>T (p.F602=) - AMPD2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1878C>T r.(?) p.(Ser626=) Unknown - likely benign g.110171966C>T g.109629344C>T AMPD2(NM_001257360.1):c.1878C>T (p.S626=) - AMPD2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1897C>T r.(?) p.(Pro633Ser) Unknown - likely benign g.110171985C>T g.109629363C>T AMPD2(NM_001257360.1):c.1897C>T (p.(Pro633Ser)) - AMPD2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2021G>A r.(?) p.(Arg674His) Unknown - pathogenic g.110172109G>A g.109629487G>A - - AMPD2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.2021G>A r.(?) p.(Arg674His) Both (homozygous) - pathogenic g.110172109G>A g.109629487G>A - - AMPD2_000018 - PubMed: Akizu 2013 - - Germline yes - - - - DNA SEQ-NG-I - - PCH9 PCH‐1631‐3‐1 and PCH‐1631‐3‐2 PubMed: Akizu 2013 - M yes Saudi Arabia - - - - - 2 Ashley Marsh
-?/. - c.2085C>T r.(?) p.(His695=) Unknown - likely benign g.110172478C>T - AMPD2(NM_001257360.1):c.2085C>T (p.H695=) - AMPD2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.2128G>A r.(?) p.(Gly710Arg) Both (homozygous) - VUS g.110172521G>A g.109629899G>A - - AMPD2_000009 - - - - Germline - - - - - DNA SEQ blood - PCH9 - - - - - - - - - - - 1 Fanny Kortüm
-?/. - c.2154C>T r.(?) p.(Val718=) Unknown - likely benign g.110172863C>T - AMPD2(NM_001257360.1):c.2154C>T (p.V718=) - AMPD2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2154C>T r.(?) p.(Val718=) Unknown - likely benign g.110172863C>T - AMPD2(NM_001257360.1):c.2154C>T (p.V718=) - AMPD2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.2256C>G r.(?) p.(Tyr752*) Both (homozygous) - pathogenic g.110172965C>G g.109630343C>G - - AMPD2_000021 - PubMed: Marsh 2015 - - Germline yes - - - - DNA SEQ-NG-I - - PCH9 - PubMed: Marsh 2015 Five affected offspring (2M:3F) from a consanguineous union - yes - Middle Eastern - - - - 1 Ashley Marsh
-?/. - c.2271C>T r.(?) p.(Leu757=) Unknown - likely benign g.110172980C>T g.109630358C>T AMPD2(NM_001257360.1):c.2271C>T (p.L757=) - AMPD2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17 c.2332G>C r.(?) p.(Glu778Gln) Both (homozygous) - pathogenic g.110173317G>C g.109630695G>C - - AMPD2_000027 - PubMed: Akizu 2013 - - Germline yes - - - - DNA SEQ-NG-I - - PCH9 PCH‐1236‐3‐2 and PCH‐1236‐3‐3 PubMed: Akizu 2013 - F yes Egypt - - - - - 2 Ashley Marsh
+/. 17 c.2377G>T r.(?) p.(Asp793Tyr) Both (homozygous) - pathogenic g.110173362G>T g.109630740G>T - - AMPD2_000028 - PubMed: Akizu 2013 - - Germline yes - - - - DNA SEQ-NG-I - - PCH9 PCH‐1391‐5‐4 PubMed: Akizu 2013 - M yes Egypt - - - - - 1 Ashley Marsh
+/. - c.2411_2412insATGA r.(?) p.(Met804IlefsTer2) Unknown - pathogenic g.110173396_110173397insATGA g.109630774_109630775insATGA - - AMPD2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 19 c.2528G>A r.(?) p.(Arg843His) Paternal (confirmed) - likely pathogenic g.110173662G>A g.109631040G>A - - AMPD2_000007 - - - - Germline yes - - - - DNA SEQ-NG - WES PCH9 - - two-generation family with two affected brothers, healthy non-consanguineous parents M no - - - - - - 2 Fanny Kortüm
+?/. 17 c.2528G>A r.(?) p.(Arg843His) Both (homozygous) - likely pathogenic g.110173662G>A g.109631040G>A - - AMPD2_000007 - PubMed: Vanderver 2016 - - Germline yes - - - - DNA SEQ-NG-I - - PCH LD_0673.0A PubMed: Vanderver 2016 - F yes Pakistan - - - - - 1 Ashley Marsh
-?/. - c.2637A>G r.(?) p.(Gln879=) Unknown - likely benign g.110173771A>G - AMPD2(NM_001257360.1):c.2637A>G (p.Q879=) - AMPD2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1G>T r.(=) p.(=) Unknown - benign g.110173775G>T g.109631153G>T AMPD2(NM_001257360.1):c.*1G>T - AMPD2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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