Full data view for gene DYRK1A

Information The variants shown are described using the NM_001347721.2 transcript reference sequence.

82 entries on 1 page. Showing entries 1 - 82.
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Effect     

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AscendingDNA change (cDNA)     

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Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

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VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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+/. - c.(-77+7822_-76-10471del)delins[NC_000009.11:g.pter_(45569325_45735555)inv] r.? p.? Unknown - pathogenic (dominant) g.(38747752_38782130)_qterdelins[NC_000009.11:g.pter_(45569325_45735555)inv] g.(37375450_37409828)_qterdelins[NC_000009.12:g.pter_(41483782_41650012)inv] break point 37,669,622–37,704,000 (hg18) 46,XY,t(9;21)(p12;q22) DYRK1A_000101 - PubMed: Moller 2008 - - De novo - - - - - DNA arrayCGH, FISH, microscope - - microcephaly Pat1 PubMed: Moller 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Denmark - - - - - 1 Johan den Dunnen
+/. - c.124_125del r.(?) p.(Asp42Profs*8) Unknown - pathogenic g.38845099_38845100del - DYRK1A(NM_001347721.2):c.124_125delGA (p.D42Pfs*8) - DYRK1A_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.170C>G r.(?) p.(Ser57*) Unknown ACMG pathogenic (dominant) g.38845145C>G g.37472843C>G - - DYRK1A_000082 ACMG: PVS1, PS2_SUP, PM2_SUP - - - De novo - - - - - DNA SEQ-NG-I - - MRD7 263288 - - M no Germany - - - - - 1 Andreas Laner
+?/. - c.187C>T r.(?) p.(Gln63Ter) Unknown ACMG likely pathogenic g.38845162C>T g.37472860C>T - - DYRK1A_000048 ACMG grading: PM2, PVS1 - - - Germline - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
-?/. - c.208-40C>G r.(?) p.(=) Unknown - likely benign g.38850470C>G g.37478168C>G NM_001396.5:c.208-13C>G - DYRK1A_000012 - PubMed: Courcet 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? PatM66 PubMed: Courcet 2012 - - - France - - - - - 1 Johan den Dunnen
?/. - c.208-28G>A r.(=) p.(=) Unknown - VUS g.38850482G>A - DYRK1A(NM_001396.3):c.208-1G>A (p.?) - DYRK1A_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.236del r.(?) p.(Pro79GlnfsTer6) Unknown - pathogenic g.38850538del g.37478236del 38850535 AC/A - DYRK1A_000003 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.263_264del r.(?) p.(Ser88Cysfs*2) Unknown - pathogenic g.38850565_38850566del - DYRK1A(NM_001396.5):c.290_291delCT (p.S97Cfs*2) - DYRK1A_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.263_264del r.(?) p.(Ser88CysfsTer2) Unknown - pathogenic (dominant) g.38850565_38850566del g.37478263_37478264del NM_001396.3:c.290_291delCT - DYRK1A_000089 - PubMed: Courcet 2012 - - De novo - - - - - DNA SEQ - - ID PatD12 PubMed: Courcet 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - 1 Johan den Dunnen
-/. - c.300+38G>A r.(?) p.(=) Unknown - benign g.38850640G>A g.37478338G>A - - DYRK1A_000102 - PubMed: Courcet 2012 - rs928763 Germline - 92/105 cases - - - DNA SEQ - - ID patients PubMed: Courcet 2012 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.317dup r.(?) p.(Lys107Glufs*13) Unknown - likely pathogenic g.38852956dup - DYRK1A(NM_001396.5):c.344dupA (p.K116Efs*13) - DYRK1A_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.322C>T r.(?) p.(Arg108Ter) Parent #1 ACMG pathogenic g.38852961C>T g.37480659C>T - - DYRK1A_000033 variant inherited (mosaic) PubMed: Helbig 2016 - - Germline - - - - - DNA SEQ-NG - WES seizures Pat33 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.323G>A r.(?) p.(Arg108Gln) Unknown - VUS g.38852962G>A - - - DYRK1A_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.366_367dup r.(?) p.(Glu123GlyfsTer19) Unknown - pathogenic g.38853005_38853006dup g.37480703_37480704dup 38853004-38853006 A/AGG - DYRK1A_000004 - 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.433_439del r.(?) p.(Lys145TrpfsTer9) Unknown ACMG pathogenic (dominant) g.38853072_38853078del g.37480770_37480776del NM_001396.4:c.459_465delAAGTGG (Lys154Trp*9) - DYRK1A_000075 ACMG PVS1, PM2, PP3 PubMed: Marinakis 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? 20010 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.450C>G r.(?) p.(Tyr150*) Unknown - pathogenic g.38853089C>G - DYRK1A(NM_001396.5):c.477C>G (p.Y159*) - DYRK1A_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.450C>G r.(?) p.(Tyr150Ter) Unknown - pathogenic g.37480787C>G g.38853089C>G NM_101395.2:c.477C>G - DYRK1A_000105 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
?/. - c.451G>A r.(?) p.(Glu151Lys) Unknown - VUS g.38853090G>A - DYRK1A(NM_001347721.2):c.451G>A (p.(Glu151Lys)) - DYRK1A_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.478dup r.(?) p.(Ser160PhefsTer10) Unknown - pathogenic g.38853117dup - - - DYRK1A_000092 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.489+2T>A r.spl p.? Unknown - likely pathogenic g.38853130T>A g.37480828T>A - - DYRK1A_000009 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+/. - c.(490-1830_490-314)_*2845delins[NC_000002.11:g.(141541511_141571225)_qter] r.? p.? Unknown - pathogenic (dominant) g.(38856939_38858455)_qterdelins[NC_000002.11:g.(141541511_141571225)_qter] g.(37484637_37486153)_qterdelins[NC_000002.12:g.(140783942_140813656)_qter] breakpoint in 37778809-37780325 (hg18) 46,XX,t(2;21)(q22;q22) DYRK1A_000100 breakpoint mapped to intron 39 LRP1B and intron 6 DYRK1A PubMed: Moller 2008 - - De novo - - - - - DNA arrayCGH, FISH, microscope - - microcephaly Pat2 PubMed: Moller 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - 1 Johan den Dunnen
-?/. - c.490-6T>C r.(=) p.(=) Unknown - likely benign g.38858763T>C - DYRK1A(NM_001347721.2):c.490-6T>C - DYRK1A_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.539dup r.(?) p.(Ile181AsnfsTer19) Unknown ACMG pathogenic g.38858818dup g.37486516dup NM_001347721.2:c.539dup - DYRK1A_000078 - - - - De novo - - - - - DNA SEQ-NG-I - - MRD7 - - - - - - - - - - - 1 Marketa Wayhelova
+/. - c.574_578del r.(?) p.(Gln192ArgfsTer6) Unknown - pathogenic (dominant) g.38858853_38858857del g.37486551_37486555del 601_605delCAGAT - DYRK1A_000040 - PubMed: Martinez 2017, Journal: Martinez 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - 1256 gene panel ID 27620904-Pat12 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.586C>T r.(?) p.(Arg196Ter) Parent #1 - pathogenic g.38858865C>T g.37486563C>T - - DYRK1A_000057 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs724159949 Germline - 1/2786 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.586C>T r.(?) p.(Arg196Ter) Unknown - pathogenic (dominant) g.38858865C>T g.37486563C>T - - DYRK1A_000057 - PubMed: Redin 2014 - - De novo - - - - - DNA SEQ, SEQ-NG - 217-gene ID panel ID APN-58 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - 1 Johan den Dunnen
+/. - c.593T>C r.(?) p.(Leu198Pro) Unknown - pathogenic g.38858872T>C g.37486570T>C - - DYRK1A_000005 - 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.594del r.(?) p.(Glu199SerfsTer3) Unknown - pathogenic (dominant) g.38858873del g.37486571del - - DYRK1A_000060 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Redin 2014 - - De novo - - - - - DNA SEQ, SEQ-NG - 218-gene ID panel ID APN-87 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - 1 Johan den Dunnen
-/. - c.637+22G>A r.(?) p.(=) Unknown - benign g.38858938G>A g.37486636G>A - - DYRK1A_000103 - PubMed: Courcet 2012 - rs55650427 Germline - 32/105 cases - - - DNA SEQ - - ID patients PubMed: Courcet 2012 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.638-9_638-5del r.spl p.? Unknown - likely pathogenic g.38862468_38862472del g.37490166_37490170del NM_101395.2:c.665-9_665-5delCTCTT - DYRK1A_000114 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. - c.638-1G>T r.spl p.? Unknown - pathogenic g.38862476G>T g.37490174G>T NM_101395.2:c.665-1G>T - DYRK1A_000115 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. - c.664C>T r.(?) p.(Arg222Ter) Unknown - pathogenic g.38862503C>T g.37490201C>T - - DYRK1A_000006 - 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.674dup r.(?) p.(Cys226LeufsTer5) Unknown ACMG likely pathogenic (dominant) g.38862513dup g.37490211dup - - DYRK1A_000069 ACMG: PVS1, PM2_SUP - - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - MRD7 184171 - - M no Germany - - - - - 1 Andreas Laner
+?/. - c.674dup r.(?) p.(Cys226LeufsTer5) Unknown ACMG pathogenic (!) g.38862513dup g.37490211dup - - DYRK1A_000069 ACMG: PVS1, PS2, PM2_SUP - - - De novo - - - - - DNA SEQ-NG-I Blood WES MRD7 184171 - - M no Germany - - - - - 1 Andreas Laner
+/. - c.675_676del r.(?) p.(Cys226PhefsTer4) Unknown - pathogenic (dominant) g.38862514_38862515del g.37490212_37490213del - - DYRK1A_000084 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED3368.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
?/. - c.677G>T r.(?) p.(Cys226Phe) Unknown - VUS g.38862516G>T - DYRK1A(NM_001347721.2):c.677G>T (p.(Cys226Phe)) - DYRK1A_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.695T>C r.(?) p.(Leu232Pro) Unknown - likely pathogenic g.38862534T>C - DYRK1A(NM_001347721.2):c.695T>C (p.(Leu232Pro)) - DYRK1A_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.710_711del r.(?) p.(Tyr237Ter) Unknown - pathogenic g.38862549_38862550del g.37490247_37490248del NM_101395.2:c.737_738delAT - DYRK1A_000116 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
-?/. - c.784A>G r.(?) p.(Thr262Ala) Unknown - likely benign g.38862623A>G - - - DYRK1A_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.833A>T r.(?) p.(Asp278Val) Unknown - pathogenic g.38862672A>T g.37490370A>T - - DYRK1A_000001 - 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.924+2T>A r.spl p.? Unknown - likely pathogenic g.38862765T>A g.37490463T>A - - DYRK1A_000066 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+?/. - c.924+4_924+7del r.spl p.? Unknown - likely pathogenic (dominant) g.38862767_38862770del g.37490465_37490468del - - DYRK1A_000020 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2740.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.924+4_924+7del r.spl p.? Unknown ACMG likely pathogenic g.38862767_38862770del g.37490465_37490468del - - DYRK1A_000020 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - ? - - - F - Brazil - - - - - 1 Juliana Mazzeu
+/. - c.924+4_924+7del r.spl p.? Unknown - pathogenic g.38862767_38862770del g.37490465_37490468del NM_101395.2:c.951+4_951+7delAGTA - DYRK1A_000020 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
-?/. - c.924+150G>C r.(=) p.(=) Unknown - likely benign g.38862913G>C - DYRK1A(NM_001347721.2):c.924+150G>C - DYRK1A_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.948_949insGG r.(?) p.(Phe317GlyfsTer43) Unknown - likely pathogenic (dominant) g.38865342_38865343insGG g.37493040_37493041insGG NM_001347721:c.948_949insGG - DYRK1A_000086 - PubMed: Poli 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? Pat113 PubMed: Poli 2024 - F - Chile - - - - - 1 Johan den Dunnen
?/. - c.1004T>C r.(?) p.(Met335Thr) Unknown - VUS g.38865398T>C - DYRK1A(NM_001347721.2):c.1004T>C (p.(Met335Thr)) - DYRK1A_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1009T>C r.(?) p.(Ser337Pro) Unknown - pathogenic g.38865403T>C g.37493101T>C - - DYRK1A_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.1013T>G r.(?) p.(Leu338Arg) Unknown ACMG likely pathogenic g.38865407T>G g.37493105T>G - - DYRK1A_000008 - PubMed: Trujillano 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - MRD7 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - 1 Daniel Trujillano
-?/. - c.1014C>T r.(?) p.(Leu338=) Unknown - likely benign g.38865408C>T - DYRK1A(NM_001347721.2):c.1014C>T (p.L338=) - DYRK1A_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1071+42C>G r.(?) p.(=) Unknown - benign g.38865507C>G g.37493205C>G - - DYRK1A_000104 - PubMed: Courcet 2012 - rs2835772 Germline - 48/105 cases - - - DNA SEQ - - ID patients PubMed: Courcet 2012 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1074_1077del r.(?) p.(Asp359ArgfsTer2) Unknown - pathogenic g.38868422_38868425del g.37496120_37496123del NM_101395.2:c.1101_1104delAGAT - DYRK1A_000117 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+?/. - c.1087_1106del r.(?) p.(Lys363TyrfsTer8) Unknown ACMG pathogenic (dominant) g.38868435_38868454del g.37496133_37496152del - - DYRK1A_000074 ACMG: PVS1, PM2_SUP, PS2_SUP; confirmed de novo in trio-exome - - - De novo - - - - - DNA SEQ-NG-I - - MRD7 194756 - - M no - - - - - - 1 Andreas Laner
+?/. 9 c.1132C>T r.(?) p.(Gln378*) Unknown ACMG pathogenic g.38868480C>T g.37496178C>T - - DYRK1A_000098 - - ClinVar-987458 rs1555987107 Germline yes - - - - DNA SEQ-NG-I peripheral blood WES DD - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. - c.1198A>T r.(?) p.(Lys400Ter) Unknown - pathogenic g.38868546A>T g.37496244A>T NM_101395.2:c.1225A>T - DYRK1A_000118 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. 9i_12_ c.(1212+1_1213-2956)_(*42296_?)del r.? p.? Unknown - pathogenic (dominant) g.(38868561_38874630)_(38927130_?)del g.(37496259_37502327)_(37554827_?)del del 37796500–37849000 (hg18) - DYRK1A_000099 52kb deletion affected last three exons DYRK1A PubMed: van Bon 2011 - - De novo - - - - - DNA arrayCGH - - ID patient PubMed: van Bon 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Netherlands - - - - - 1 Johan den Dunnen
?/. - c.1234C>T r.(?) p.(Arg412Cys) Unknown - VUS g.38877607C>T - DYRK1A(NM_001396.3):c.1261C>T (p.(Arg421Cys)) - DYRK1A_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1260_1262dup r.(?) p.(Glu421dup) Unknown - VUS g.38877633_38877635dup - DYRK1A(NM_001396.5):c.1287_1289dupGGA (p.E430dup) - DYRK1A_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1282C>T r.(?) p.(Arg428Ter) Parent #1 - pathogenic g.38877655C>T g.37505352C>T - - DYRK1A_000039 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs724159953 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.1358A>G r.(?) p.(Tyr453Cys) Unknown - VUS g.38877731A>G - - - DYRK1A_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1372C>T r.(?) p.(Arg458Ter) Parent #1 - pathogenic g.38877745C>T g.37505442C>T - - DYRK1A_000026 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797044520 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+?/. - c.1373G>A r.(?) p.(Arg458Gln) Parent #1 - likely pathogenic g.38877746G>A g.37505443G>A - - DYRK1A_000058 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797045041 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.1389T>C r.(?) p.(Tyr463=) Unknown - benign g.38877762T>C g.37505459T>C - - DYRK1A_000027 - PubMed: Courcet 2012 - rs55854596 Germline - 1/105 cases - - - DNA SEQ - - ID patients PubMed: Courcet 2012 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.1406del r.(?) p.(Phe469SerfsTer114) Unknown - likely pathogenic g.38877779del g.37505476del - - DYRK1A_000007 - PubMed: Rump 2016 - - Unknown no 1/38 patients - - - DNA SEQ-NG-I DNA isolated from Blood - MRD7 - PubMed: Rump 2016 - M yes - - - - - - 1 Birgit Sikkema-Raddatz
+?/. - c.1406del r.(?) p.(Phe469SerfsTer114) Unknown - likely pathogenic g.38877779del g.37505476del DYRK1A c.1433delT, p.F478Sfs*114 - DYRK1A_000007 father not available, mother wild-type; heterozygous PubMed: Rump 2016 - - Unknown ? - - - - DNA arraySNP, SEQ-NG-I, SEQ - - MRD7 23 PubMed: Rump 2016 - M - - - - - - - 1 LOVD
+?/. 10 c.1480_1481del r.? p.(Gln494Valfs*69) Unknown ACMG pathogenic (dominant) g.38877853_38877854del g.37505550_37505551del - - DYRK1A_000097 ACMG: PVS1, PS2_SUP, PM2_SUP; confirmed de novo - - - De novo - - - - - DNA SEQ-NG-I Blood - MRD7 303605 - - M no Germany - - - - - 1 Andreas Laner
+?/. - c.1519+5G>T r.spl? p.(?) Unknown - VUS g.38877897G>T g.37505594G>T - - DYRK1A_000113 - PubMed: Retterer 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+?/. - c.1642del r.(?) p.(Gln548ArgfsTer35) Unknown - pathogenic (dominant) g.38878524del g.37506221del 1669delC - DYRK1A_000049 - PubMed: Minardi 2020 - - De novo - - - - - DNA SEQ-NG-I - - EE - PubMed: Minardi 2020 - F - Romania - - - - - 1 Francesca Bisulli
-?/. - c.1644+16G>A r.(=) p.(=) Unknown - likely benign g.38878542G>A - DYRK1A(NM_101395.2):c.1687G>A (p.(Val563Ile)) - DYRK1A_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1644+979C>T r.(=) p.(=) Unknown - likely benign g.38879505C>T - DYRK1A(NM_001347721.2):c.1644+979C>T - DYRK1A_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1736C>A r.(?) p.(Thr579Asn) Unknown - likely pathogenic (dominant) g.38884305C>A g.37512002C>A - - DYRK1A_000083 - PubMed: Thevenon 2016, PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat39;PED1343.1 PubMed: Thevenon 2016, PubMed: Nambot 2018 - F - France - - - - - 1 Johan den Dunnen
+/. - c.1743dup r.(?) p.(Val582CysfsTer14) Unknown - pathogenic g.38884312dup g.37512009dup - - DYRK1A_000068 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
?/. - c.1858A>G r.(?) p.(Arg620Gly) Unknown - VUS g.38884427A>G - DYRK1A(NM_001396.3):c.1885A>G (p.(Arg629Gly)) - DYRK1A_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1874A>G r.(?) p.(Asn625Ser) Unknown ACMG VUS g.38884443A>G g.37512140A>G - - DYRK1A_000041 - - - rs370090236 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
+?/. - c.1883del r.(?) p.(Thr628Argfs*19) Unknown - likely pathogenic g.38884452del - - - DYRK1A_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1943_1947del r.(?) p.(Ser648PhefsTer16) Parent #1 - VUS g.38884512_38884516del g.37512209_37512213del - - DYRK1A_000064 - PubMed: Zhu 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio84 PubMed: Zhu 2015 - M - United States - - - - - 1 Johan den Dunnen
+?/. - c.1950_1960del r.(?) p.(Ser651PhefsTer11) Parent #2 - VUS g.38884519_38884529del g.37512216_37512226del - - DYRK1A_000065 - PubMed: Zhu 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio84 PubMed: Zhu 2015 - M - United States - - - - - 1 Johan den Dunnen
?/. - c.2003A>G r.(?) p.(Asn668Ser) Unknown - VUS g.38884572A>G - DYRK1A(NM_001396.5):c.2030A>G (p.N677S) - DYRK1A_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2132A>G r.(?) p.(Tyr711Cys) Unknown - VUS g.38884701A>G - DYRK1A(NM_001347721.2):c.2132A>G (p.Y711C) - DYRK1A_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2144C>G r.(?) p.(Ala715Gly) Unknown - likely benign g.38884713C>G - DYRK1A(NM_001396.5):c.2171C>G (p.A724G) - DYRK1A_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2265_*1del r.(?) p.(Ter755CysextTer13) Unknown ACMG VUS g.38884834_38884835del g.37512531_37512532del - - DYRK1A_000119 - PubMed: Anderson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat5 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.*5667G>A r.(=) p.(=) Unknown - VUS g.38890501G>A - DYRK1A(NM_001347721.2):c.*5667G>A - DYRK1A_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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