Full data view for gene ADNP

Information The variants shown are described using the NM_015339.2 transcript reference sequence.

171 entries on 2 pages. Showing entries 1 - 100.
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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.-5551G>T r.(?) p.(=) Unknown - likely benign g.49552733C>A g.50936196C>A DPM1(NM_003859.1):c.630G>T (p.(Gln210His)) - DPM1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5506C>T r.(?) p.(=) Unknown - VUS g.49552688G>A g.50936151G>A DPM1(NM_001317034.1):c.780C>T (p.G260=) - DPM1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4600_-4599dup r.(?) p.(=) Unknown - likely benign g.49551791_49551792dup g.50935254_50935255dup DPM1(NM_003859.3):c.679-9_679-8dup - DPM1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4599dup r.(?) p.(=) Unknown - likely benign g.49551792dup g.50935255dup DPM1(NM_001317034.1):c.784-8dupT, DPM1(NM_003859.1):c.679-8dup (p.(=)), DPM1(NM_003859.2):c.679-8dupT - DPM1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4599dup r.(?) p.(=) Unknown - benign g.49551792dup - DPM1(NM_001317034.1):c.784-8dupT, DPM1(NM_003859.1):c.679-8dup (p.(=)), DPM1(NM_003859.2):c.679-8dupT - DPM1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4599dup r.(?) p.(=) Unknown - benign g.49551792dup - DPM1(NM_001317034.1):c.784-8dupT, DPM1(NM_003859.1):c.679-8dup (p.(=)), DPM1(NM_003859.2):c.679-8dupT - DPM1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4598A>T r.(?) p.(=) Unknown - benign g.49551780T>A g.50935243T>A DPM1(NM_003859.1):c.679-7A>T (p.(=)), DPM1(NM_003859.2):c.679-7A>T - DPM1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4598A>T r.(?) p.(=) Unknown - likely benign g.49551780T>A g.50935243T>A DPM1(NM_003859.1):c.679-7A>T (p.(=)), DPM1(NM_003859.2):c.679-7A>T - DPM1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4598_-4597insT r.(?) p.(=) Unknown - benign g.49551779_49551780insA g.50935242_50935243insA DPM1(NM_003859.1):c.679-7_679-6insT (p.(=)), DPM1(NM_003859.2):c.679-7_679-6insT - DPM1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4598_-4597insT r.(?) p.(=) Unknown - likely benign g.49551779_49551780insA g.50935242_50935243insA DPM1(NM_003859.1):c.679-7_679-6insT (p.(=)), DPM1(NM_003859.2):c.679-7_679-6insT - DPM1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_5 c.(?_-1)_(2575_*50086)del r.0 p.0 Unknown - pathogenic g.(49457856_49508676)_(49571808_49620163)del - - arr[GRCh37] 20q13.13(49508676_49571808)x1 ADNP_000050 - PubMed: Huynh 2018 - - De novo - - - - - DNA arrayCGH Blood lymphocytes - HVDAS;MRD28 patient PubMed: Huynh 2018 - M no France - 03y10m - - - 1 Minh Tuan Huynh
./. 3 c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.49520533T>C g.50903996T>C - - ADNP_000033 - - - - De novo - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Céline Helsmoortel
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.49520533T>C g.50903996T>C - - ADNP_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2T>C r.(2u>c) p.0? Unknown - pathogenic g.49520532A>G g.50903995A>G Met1Thr - ADNP_000069 - PubMed: Du 2018 - - De novo - - - - - DNA SEQ-NG - - autism - PubMed: Du 2018 - M - China - - - - - 1 Fei Li
?/. - c.46C>G r.(?) p.(Arg16Gly) Unknown - VUS g.49520488G>C - ADNP(NM_015339.5):c.46C>G (p.R16G) - ADNP_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.56_57del r.(?) p.(Val19GlufsTer5) Unknown - pathogenic g.49520479_49520480del - ADNP(NM_001282531.3):c.56_57delTG (p.V19Efs*5) - ADNP_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 4 c.118C>T r.(?) p.(Gln40*) Unknown - pathogenic g.49518637G>A g.50902100G>A - - ADNP_000010 de novo in patient PubMed: Vandeweyer et al. 2014 - - De novo - - - - - DNA SEQ - - HVDAS;MRD28 - PubMed: Vandeweyer 2014 patient 11 in the paper M no (United States) white - - yes - 1 Céline Helsmoortel
./. 4 c.190dup r.(?) p.(Thr64Asnfs*35) Unknown - pathogenic g.49518565dup g.50902028dup 190dupA - ADNP_000044 - - - - De novo - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Céline Helsmoortel
?/. - c.191C>T r.(?) p.(Thr64Met) Unknown - VUS g.49518564G>A g.50902027G>A ADNP(NM_001282531.2):c.191C>T (p.T64M) - ADNP_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.208C>T r.(?) p.(Arg70Trp) Unknown - likely pathogenic g.49511043G>A g.50894506G>A ADNP(NM_001282531.3):c.208C>T (p.R70W) - ADNP_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 5 c.339del r.(?) p.(Phe114Serfs*47) Unknown - pathogenic g.49510913del g.50894376del 339delC - ADNP_000013 de novo in patient - - - De novo - - - - - DNA SEQ - - HVDAS;MRD28 - - - M no (United States) white - - yes - 1 Céline Helsmoortel
./. 5 c.372_373del r.(?) p.(Ile125*) Unknown - pathogenic g.49510883_49510884del g.50894346_50894347del 372_373delCA - ADNP_000038 - - - - De novo - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Céline Helsmoortel
-?/. - c.406C>T r.(?) p.(Pro136Ser) Unknown - likely benign g.49510845G>A - ADNP(NM_001282532.1):c.406C>T (p.(Pro136Ser)) - ADNP_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.415_417del r.(?) p.(Ser139del) Unknown - VUS g.49510837_49510839del - ADNP(NM_001282531.2):c.415_417delAGC (p.S139del) - ADNP_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.422_424dup r.(?) p.(Ser141dup) Unknown - likely benign g.49510829_49510831dup g.50894292_50894294dup ADNP(NM_001282531.3):c.422_424dup (p.(Ser141dup)), ADNP(NM_001282531.3):c.422_424dupGCA (p.S141dup) - ADNP_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.422_424dup r.(?) p.(Ser141dup) Unknown - likely benign g.49510829_49510831dup - ADNP(NM_001282531.3):c.422_424dup (p.(Ser141dup)), ADNP(NM_001282531.3):c.422_424dupGCA (p.S141dup) - ADNP_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.445_446del r.(?) p.(Asn149Ter) Unknown - pathogenic g.49510808_49510809del g.50894271_50894272del - - ADNP_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.469G>T r.(?) p.(Ala157Ser) Unknown - VUS g.49510782C>A g.50894245C>A ADNP(NM_015339.2):c.469G>T (p.(Ala157Ser)), ADNP(NM_015339.5):c.469G>T (p.A157S) - ADNP_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.469G>T r.(?) p.(Ala157Ser) Unknown - VUS g.49510782C>A - ADNP(NM_015339.2):c.469G>T (p.(Ala157Ser)), ADNP(NM_015339.5):c.469G>T (p.A157S) - ADNP_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 5 c.484C>T r.(?) p.(Gln162*) Unknown - pathogenic g.49510767G>A g.50894230G>A - - ADNP_000032 - - - - De novo - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Céline Helsmoortel
+/. - c.484C>T r.(?) p.(Gln162Ter) Unknown - pathogenic g.49510767G>A g.50894230G>A ADNP(NM_001282531.2):c.484C>T (p.Q162*) - ADNP_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 5 c.517C>T r.(?) p.(Arg173*) Unknown - pathogenic g.49510734G>A g.50894197G>A - - ADNP_000012 de novo in patient - - - De novo - - - - - DNA SEQ - - HVDAS;MRD28 - - - ? no Serbia white - - yes - 1 Céline Helsmoortel
./. 5 c.539_542del r.(?) p.(Val180Glyfs*17) Unknown - pathogenic g.49510712_49510715del g.50894175_50894178del 539_542delTTAG - ADNP_000018 de novo in patient - - - De novo - - - - - DNA SEQ - - HVDAS;MRD28 - - - F no - - - - yes - 1 Céline Helsmoortel
+/. - c.539_542del r.(?) p.(Val180GlyfsTer17) Unknown - pathogenic g.49510712_49510715del - ADNP(NM_001282531.3):c.539_542delTTAG (p.V180Gfs*17) - ADNP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.592G>A r.(?) p.(Ala198Thr) Unknown - VUS g.49510659C>T - ADNP(NM_001282532.1):c.592G>A (p.(Ala198Thr)) - ADNP_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.609dup r.(?) p.(Ser204IlefsTer17) Unknown - pathogenic g.49510646dup g.50894109dup ADNP(NM_001282531.3):c.609dupA (p.S204Ifs*17) - ADNP_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.638C>T r.(?) p.(Ser213Leu) Unknown - VUS g.49510613G>A g.50894076G>A - - ADNP_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.646C>T r.(?) p.(Arg216*) Unknown - pathogenic g.49510605G>A g.50894068G>A c.646C>T - ADNP_000017 de novo in patient - - - De novo - - - - ElisaCappuyns DNA SEQ - - HVDAS;MRD28 - - - M no Israel - - - yes - 1 Céline Helsmoortel
+/. - c.651_652del r.(?) p.(Ser219*) Unknown ACMG pathogenic (dominant) g.49510599_49510600del g.50894062_50894063del NM_181442.4:c.655_656delAG (Ser219Ter) - ADNP_000105 ACMG PVS1, PS2, PM2, PP3 PubMed: Marinakis 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 20171 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
./. 5 c.651_655del r.(?) p.(Glu218*) Unknown - pathogenic g.49510600_49510604del g.50894063_50894067del 651_655delAGAGA - ADNP_000046 - - - - De novo - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Céline Helsmoortel
./. 5 c.673C>T r.(?) p.(Arg225*) Unknown - pathogenic g.49510578G>A g.50894041G>A - - ADNP_000028 - - - - De novo - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Céline Helsmoortel
./. 5 c.673C>T r.(?) p.(Arg225*) Unknown - pathogenic g.49510578G>A g.50894041G>A - - ADNP_000028 - - - - De novo - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Céline Helsmoortel
+/. - c.790C>T r.(?) p.(Arg264Ter) Unknown - pathogenic g.49510461G>A g.50893924G>A - - ADNP_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 5 c.819del r.(?) p.(Lys274Asnfs*31) Unknown - pathogenic g.49510434del g.50893897del 819delC - ADNP_000043 - - - - De novo - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Céline Helsmoortel
+/. - c.819dup r.(?) p.(Lys274Glnfs*40) Unknown - pathogenic g.49510434dup - ADNP(NM_015339.5):c.819dupC (p.K274Qfs*40) - ADNP_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.824C>T r.(?) p.(Pro275Leu) Unknown - likely benign g.49510427G>A - ADNP(NM_001282531.3):c.824C>T (p.(Pro275Leu)) - ADNP_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.831_835del r.(?) p.(Asp277GlufsTer35) Unknown - pathogenic g.49510421_49510425del g.50893884_50893888del ADNP(NM_001282531.2):c.831_835delCAAGA (p.D277Efs*35) - ADNP_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.834del r.(?) p.(Lys279ArgfsTer26) Unknown - pathogenic g.49510417del g.50893880del ADNP(NM_001282531.3):c.834delG (p.K279Rfs*26) - ADNP_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.845G>C r.(?) p.(Gly282Ala) Unknown - likely benign g.49510406C>G - ADNP(NM_015339.5):c.845G>C (p.G282A) - ADNP_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.886C>T r.(?) p.(Arg296Trp) Unknown - VUS g.49510365G>A g.50893828G>A - - ADNP_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.909G>A r.(?) p.(Met303Ile) Unknown - likely benign g.49510342C>T g.50893805C>T ADNP(NM_001282531.2):c.909G>A (p.M303I) - ADNP_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.963G>C r.(?) p.(Met321Ile) Unknown - likely benign g.49510288C>G - ADNP(NM_001282531.1):c.963G>C (p.(Met321Ile)) - ADNP_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1018G>A r.(?) p.(Gly340Ser) Unknown - VUS g.49510233C>T - ADNP(NM_001282531.2):c.1018G>A (p.G340S) - ADNP_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 5 c.1026dup r.(?) p.(Val343Cysfs*56) Unknown - pathogenic g.49510225dup g.50893688dup 1026_1027insT - ADNP_000015 de novo in patient PubMed: O'Roak et al. 2014 - - De novo - - - - - DNA SEQ - - HVDAS;MRD28 - PubMed: O'Roak 2014 - ? no (United States) white - - yes - 1 Céline Helsmoortel
./. 5 c.1033C>T r.(?) p.(Gln345*) Unknown - pathogenic g.49510218G>A g.50893681G>A - - ADNP_000045 - - - - De novo - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Céline Helsmoortel
./. 5 c.1046_1047del r.(?) p.(Leu349Argfs*49) Unknown - pathogenic g.49510204_49510205del g.50893667_50893668del 1046_1047delTG - ADNP_000011 de novo in patient - - - De novo - - - - - DNA SEQ - - HVDAS;MRD28 - - - M no (United States) white - - yes - 1 Céline Helsmoortel
-?/. - c.1057G>A r.(?) p.(Gly353Ser) Unknown - likely benign g.49510194C>T - - - ADNP_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1107del r.(?) p.(Leu369PhefsTer39) Unknown - likely pathogenic g.49510144del g.50893607del - - ADNP_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 5 c.1134T>G r.(?) p.(Tyr378*) Unknown - pathogenic g.49510117A>C g.50893580A>C - - ADNP_000034 - - - - De novo - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Céline Helsmoortel
+?/. - c.1134T>G r.(?) p.(Tyr378Ter) Unknown - likely pathogenic g.49510117A>C g.50893580A>C - - ADNP_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1145C>T r.(?) p.(Ser382Leu) Unknown - likely benign g.49510106G>A - ADNP(NM_001282531.3):c.1145C>T (p.(Ser382Leu)) - ADNP_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 5 c.1184_1190del r.(?) p.(Gln395Leufs*11) Unknown - pathogenic g.49510065_49510071del g.50893528_50893534del 1184_1190delAGTCTGC - ADNP_000041 - - - - De novo - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Céline Helsmoortel
?/. - c.1199C>A r.(?) p.(Ser400Tyr) Unknown - VUS g.49510052G>T - ADNP(NM_001282532.1):c.1199C>A (p.(Ser400Tyr)) - ADNP_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 5 c.1211C>A r.(?) p.(Ser404*) Unknown - pathogenic g.49510040G>T g.50893503G>T - - ADNP_000002 de novo in patient PubMed: Helsmoortel et al. 2014 - - De novo - - - - - DNA SEQ blood - HVDAS;MRD28 - PubMed: Helsmoortel 2014 patient 2 in the paper F no Netherlands white - - yes - 1 Céline Helsmoortel
+/. - c.1211C>A r.(?) p.(Ser404Ter) Unknown - pathogenic g.49510040G>T g.50893503G>T - - ADNP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 5 c.1216del r.(?) p.(Gln406Serfs*2) Unknown - pathogenic g.49510036del g.50893499del 1216delC - ADNP_000040 - - - - De novo - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Céline Helsmoortel
./. 5 c.1220_1222del r.(?) p.(Leu407*) Unknown - pathogenic g.49510029_49510031del g.50893492_50893494del 1220_1224delinsAG - ADNP_000026 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. 5 c.1222_1223del r.(?) p.(Lys408Valfs*31) Unknown - pathogenic g.49510029_49510030del g.50893492_50893493del 1222_1223delAA - ADNP_000003 de novo in patient PubMed: Helsmoortel et al. 2014 PubMed: O'Roak et al. 2012 PubMed: O'Roak et al. 2012 PubMed: O'Roak et al. 2014 - - De novo - - - - - DNA SEQ blood - HVDAS;MRD28 - PubMed: Helsmoortel 2014 PubMed: O'Roak 2012 PubMed: O'Roak 2012 PubMed: O'Roak 2014 patient 3 in the paper F no (United States) white - - yes - 1 Céline Helsmoortel
+?/. 6 c.1222_1223del r.(?) p.(Lys408Valfs*31) Unknown ACMG pathogenic (dominant) g.49510029_49510030del g.50893492_50893493del - - ADNP_000003 ACMG: PVS1, PS2, PS4_moderat, PM2 PMID: 25169753; 24531329; 25418537; 30106381; 32661233 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - MRD 171106 - - M ? Germany - - - - - 1 Andreas Laner
./. 5 c.1235del r.(?) p.(Leu412Profs*10) Unknown - pathogenic g.49510016del g.50893479del 1235delT - ADNP_000036 - - - - De novo - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Céline Helsmoortel
-?/. - c.1237T>C r.(?) p.(Ser413Pro) Unknown - likely benign g.49510014A>G g.50893477A>G ADNP(NM_015339.2):c.1237T>C (p.(Ser413Pro)) - ADNP_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1405_1409del r.(?) p.(His469Serfs*2) Unknown - pathogenic g.49509844_49509848del - ADNP(NM_001282531.2):c.1405_1409delCATAA (p.H469Sfs*2) - ADNP_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1490A>G r.(?) p.(Tyr497Cys) Unknown - VUS g.49509761T>C - ADNP(NM_001282531.2):c.1490A>G (p.Y497C) - ADNP_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1652_1653del r.(?) p.(Asp551Valfs*7) Unknown - pathogenic g.49509598_49509599del g.50893061_50893062del 1652_1653delAT - ADNP_000051 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+/. - c.1666C>T r.(?) p.(Gln556*) Unknown - pathogenic g.49509585G>A g.50893048G>A - - ADNP_000093 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+/. - c.1666C>T r.(?) p.(Gln556*) Unknown - pathogenic g.49509585G>A - ADNP(NM_001282531.2):c.1666C>T (p.Q556*) - ADNP_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1681_1684dup r.(?) p.(Ile562Lysfs*17) Unknown - likely pathogenic g.49509567_49509570dup - ADNP(NM_001282531.3):c.1681_1684dup (p.(Ile562Lysfs*17)) - ADNP_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1715G>A r.(?) p.(Arg572Lys) Unknown - likely benign g.49509536C>T - ADNP(NM_001282531.3):c.1715G>A (p.(Arg572Lys)) - ADNP_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1765G>C r.(?) p.(Val589Leu) Unknown - VUS g.49509486C>G g.50892949C>G ADNP(NM_001282531.2):c.1765G>C (p.V589L) - ADNP_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1765G>T r.(?) p.(Val589Phe) Unknown - likely benign g.49509486C>A - ADNP(NM_015339.2):c.1765G>T (p.(Val589Phe)) - ADNP_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1808T>C r.(?) p.(Ile603Thr) Unknown - likely benign g.49509443A>G - ADNP(NM_001282532.1):c.1808T>C (p.(Ile603Thr)) - ADNP_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1879T>G r.(?) p.(Cys627Gly) Unknown - VUS g.49509372A>C g.50892835A>C ADNP(NM_001282531.1):c.1879T>G (p.(Cys627Gly)) - ADNP_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1924C>T r.(?) p.(His642Tyr) Unknown - VUS g.49509327G>A - ADNP(NM_015339.5):c.1924C>T (p.H642Y) - ADNP_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1925A>G r.(?) p.(His642Arg) Unknown - VUS g.49509326T>C g.50892789T>C - - ADNP_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 5 c.1930C>T r.(?) p.(Arg644*) Unknown - pathogenic g.49509321G>A g.50892784G>A - - ADNP_000008 parents not available for testing inheritance PubMed: Helsmoortel et al. 2014 - - Unknown - - - - - DNA SEQ blood - HVDAS;MRD28 - PubMed: Helsmoortel 2014 patien 9 in the paper F no Italy white - - yes - 1 Céline Helsmoortel
?/. - c.2047C>T r.(?) p.(His683Tyr) Unknown - VUS g.49509204G>A - ADNP(NM_001282531.3):c.2047C>T (p.(His683Tyr)) - ADNP_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2054_2055del r.(?) p.(Val685AlafsTer14) Unknown - likely pathogenic g.49509196_49509197del - ADNP(NM_001282531.1):c.2054_2055delTT (p.(Val685Alafs*14)) - ADNP_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2076G>A r.(?) p.(=) Unknown - likely benign g.49509175C>T - ADNP(NM_001282531.3):c.2076G>A (p.(Lys692=)) - ADNP_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 5 c.2089C>T r.(?) p.(Gln697*) Unknown - pathogenic g.49509162G>A g.50892625G>A - - ADNP_000028 - - - - De novo - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Céline Helsmoortel
./. 5 c.2129del r.(?) p.(Pro710Glnfs*6) Unknown - pathogenic g.49509123del g.50892586del 2129_2129delC - ADNP_000029 - - - - De novo - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Céline Helsmoortel
./. 5 c.2129dup r.(?) p.(Ser711Lysfs*24) Unknown - pathogenic g.49509123dup g.50892586dup 2130delAinsCA - ADNP_000019 de novo in patient - - - De novo - - - - - DNA SEQ - - HVDAS;MRD28 - - - F no Ireland white - - - - 1 Céline Helsmoortel
./. 5 c.2153_2165del r.(?) p.(Thr718Argfs*6) Unknown - pathogenic g.49509086_49509098del g.50892549_50892561del 2153_2165delCTTACGAGCAAAT - ADNP_000001 de novo in patient PubMed: Helsmoortel et al. 2014 - - De novo - - - - - DNA SEQ blood - HVDAS;MRD28 - PubMed: Helsmoortel 2014 patient 4 in the paper M no Australia white - - yes - 1 Céline Helsmoortel
./. 5 c.2154_2155delinsA r.(?) p.(Tyr719Thrfs*9) Unknown - pathogenic g.49509096_49509097delinsT g.50892559_50892560delinsT 2154_2157delinsAAC - ADNP_000025 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.2155del r.(?) p.(Tyr719Thrfs*9) Unknown - pathogenic g.49509097del - ADNP(NM_015339.5):c.2155delT (p.Y719Tfs*9) - ADNP_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 5 c.2156dup r.(?) p.(Tyr719*) Unknown - pathogenic g.49509095dup g.50892558dup 2156_2157insA - ADNP_000009 de novo in patient PubMed: Helsmoortel et al. 2014 PubMed: O'Roak et al. 2012 PubMed: O'Roak et al. 2014 - - De novo - - - - - DNA SEQ blood - HVDAS;MRD28 - PubMed: Helsmoortel 2014 PubMed: O'Roak 2012 PubMed: O'Roak 2014 patient 10 in the paper M no United States white - - yes - 1 Céline Helsmoortel
+/. - c.2156dup r.(?) p.(Tyr719Ter) Unknown - pathogenic g.49509095dup g.50892558dup ADNP(NM_001282531.2):c.2156dupA (p.Y719*), ADNP(NM_001282531.3):c.2156dup (p.(Tyr719Ter)), ADNP(NM_001282531.3):c.2156dupA (p.Y719*) - ADNP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2156dup r.(?) p.(Tyr719Ter) Unknown - pathogenic g.49509095dup - ADNP(NM_001282531.2):c.2156dupA (p.Y719*), ADNP(NM_001282531.3):c.2156dup (p.(Tyr719Ter)), ADNP(NM_001282531.3):c.2156dupA (p.Y719*) - ADNP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.2156dup r.(?) p.(Tyr719Ter) Unknown - pathogenic (dominant) g.49509095dup g.50892558dup 2156_2157insA - ADNP_000009 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2257.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+/. - c.2156dup r.(?) p.(Tyr719Ter) Unknown - pathogenic g.49509095dup - ADNP(NM_001282531.2):c.2156dupA (p.Y719*), ADNP(NM_001282531.3):c.2156dup (p.(Tyr719Ter)), ADNP(NM_001282531.3):c.2156dupA (p.Y719*) - ADNP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 5 c.2157C>A r.(?) p.(Tyr719*) Unknown - pathogenic g.49509094G>T g.50892557G>T - - ADNP_000039 - - - - De novo - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Céline Helsmoortel
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