Unique variants in the DAG1 gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001165928.3 transcript reference sequence.

104 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 40 c.? r.(?) p.? - VUS g.? - 8804C>T (R546C) - DAG1_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 1_6 c.(?_-729)_(*2416_?)del r.0 p.0 - likely pathogenic g.? - chr3:g.(48260361_48286183)_(50219661 _50252191)del (NCBI36) - DAG1_000012 1.9 Mb deletion incl. DAG1 from in ZNF589 to in SLC38A3/GNAI2; muscle mRNA 0.60 PubMed: Frost 2010 - - Germline - - - - - Johan den Dunnen
?/. 1 4i c.-116-291T>G r.(?) p.(=) - VUS g.49547561T>G g.49510128T>G - - DAG1_000010 - - - rs7622302 Germline - 0.07-0.21 - - - Johan den Dunnen
-?/. 1 6 c.(1453_1455?>?) r.(?) p.(Ser485Arg) - likely benign g.? - S485R - DAG1_000000 1 heterozygote PubMed: Concolino 2007 - - Germline - 1/106 chromosomes - - - Johan den Dunnen
-/. 2 - c.41= r.(=) p.(Trp14=) - benign g.49548008C>G g.49510575C>G DAG1(NM_001165928.3):c.41C>G (p.S14W) - DAG1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 5 c.41G>C r.(?) p.(Trp14Ser) - VUS g.49548008G>C - - - DAG1_000001 1 more item - - rs2131107 Germline - 0.00-0.12 - - - Johan den Dunnen
+?/. 1 2 c.45del r.(?) p.(Arg16Glyfs*65) - likely pathogenic g.49548012del g.49510579del 41delC - DAG1_000047 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 2 c.93G>T r.(?) p.(Trp31Cys) - VUS g.49548060G>T g.49510627G>T - - DAG1_000048 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 2 c.148A>G r.(?) p.(Met50Val) - VUS g.49548115A>G g.49510682A>G DAG1(NM_001165928.3):c.148A>G (p.(Met50Val)) - DAG1_000049 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Leiden
?/. 2 2 c.185C>T r.(?) p.(Pro62Leu) - VUS g.49548152C>T g.49510719C>T - - DAG1_000050 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.196G>A r.(?) p.(Gly66Ser) - VUS g.49548163G>A - DAG1(NM_004393.6):c.196G>A (p.G66S) - DAG1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 3 2 c.258G>C r.(?) p.(Leu86Phe) - likely benign, VUS g.49548225G>C g.49510792G>C DAG1(NM_001165928.3):c.258G>C (p.L86F) - DAG1_000051 no second variant in DAG1, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 2 2 c.278T>C r.(?) p.(Ile93Thr) - VUS g.49548245T>C g.49510812T>C - - DAG1_000052 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 5i c.285+42T>C r.(?) p.(=) - VUS g.49548294T>C g.49510861T>C - - DAG1_000002 - - - rs2329024 Germline - 0.88-1.00 - - - Johan den Dunnen
?/. 1 5i c.286-135G>A r.(?) p.(=) - VUS g.49568095G>A g.49530662G>A - - DAG1_000003 - - - rs2311801 Germline - 0.00-0.11 - - - Johan den Dunnen
-/. 2 - c.331G>A r.(?) p.(Asp111Asn) - benign g.49568275G>A g.49530842G>A DAG1(NM_001165928.3):c.331G>A (p.D111N) - DAG1_000033 classification based on frequency in 305 unrelated individuals, VKGL data sharing initiative Nederland PubMed: Le 2019 - - CLASSIFICATION record, Germline - frequency 0.014 - - - Global Variome, with Curator vacancy, VKGL-NL_Rotterdam
+?/. 1 - c.337_340del r.(?) p.(Gln113AlafsTer20) - likely pathogenic g.49568281_49568284del g.49530848_49530851del - - DAG1_000111 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.354G>A r.(?) p.(Glu118=) - likely benign g.49568298G>A g.49530865G>A DAG1(NM_001165928.3):c.354G>A (p.(=)) - DAG1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 3 c.385C>T r.(?) p.(His129Tyr) - VUS g.49568329C>T g.49530896C>T - - DAG1_000053 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.473C>T r.(?) p.(Pro158Leu) - VUS g.49568417C>T g.49530984C>T - - DAG1_000054 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 2 6 c.489G>T r.(?) p.(Glu163Asp) - likely benign g.49568433G>T g.49531000G>T 883T>G (D163E), D163E - DAG1_000014 9 heterozygotes, 2 homozygotes PubMed: Concolino 2007, PubMed: Gotlieb 2005 - - Germline, Unknown - 13/66 chromosomes - - - Johan den Dunnen
?/. 1 3 c.539C>T r.(?) p.(Ser180Phe) - VUS g.49568483C>T g.49531050C>T - - DAG1_000055 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., -/. 4 6 c.(575C>T), c.575C>T r.(575c>u), r.(?) p.(Thr192Met), p.Thr192Met - NA, pathogenic g.49568519C>T g.49531086C>T - - DAG1_000000, DAG1_000011 expression cloning (DAG1 negative cells) shows normal protein localisation/stability, 2 more items PubMed: Hara 2011 - - animal model, Germline, In vitro (cloned) - - - - - Johan den Dunnen
-?/., ?/. 5 3 c.599C>G r.(?) p.(Thr200Ser) - likely benign, VUS g.49568543C>G g.49531110C>G DAG1(NM_001165928.3):c.599C>G (p.T200S) - DAG1_000035 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 3 c.623T>C r.(?) p.(Ile208Thr) - VUS g.49568567T>C g.49531134T>C - - DAG1_000056 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 3 c.634C>A r.(?) p.(His212Asn) - VUS g.49568578C>A g.49531145C>A - - DAG1_000057 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.695A>G r.(?) p.(Asn232Ser) - VUS g.49568639A>G g.49531206A>G - - DAG1_000058 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 2 6 c.742G>C r.(?) p.(Ala248Pro) - likely benign g.49568686G>C g.49531253G>C 1136C>G (P248A), P248A - DAG1_000015 3 heterozygotes, 6 homozygotes PubMed: Concolino 2007, PubMed: Gotlieb 2005 - - Germline, Unknown - 15/66 chromosomes - - - Johan den Dunnen
?/. 1 - c.925C>T r.(?) p.(Arg309Cys) - VUS g.49568869C>T g.49531436C>T DAG1(NM_001165928.3):c.925C>T (p.(Arg309Cys)) - DAG1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.931C>T r.(?) p.(Arg311Trp) - likely benign g.49568875C>T g.49531442C>T DAG1(NM_001165928.3):c.931C>T (p.(Arg311Trp)) - DAG1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 3 c.932G>C r.(?) p.(Arg311Pro) - VUS g.49568876G>C g.49531443G>C - - DAG1_000059 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.965C>T r.(?) p.(Thr322Ile) - VUS g.49568909C>T g.49531476C>T - - DAG1_000060 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 8 3 c.1022C>T r.(?) p.(Thr341Ile) - VUS g.49568966C>T g.49531533C>T DAG1(NM_001165928.3):c.1022C>T (p.(Thr341Ile)) - DAG1_000061 9 heterozygous, no homozygous; Clinindb (India), no second variant, 1 more item PubMed: Nallamilli 2018, PubMed: Narang 2020, Journal: Narang 2020 - rs148759919 CLASSIFICATION record, Germline - 9/2757 individuals - - - Madhuri Hegde, VKGL-NL_Leiden, Mohammed Faruq
?/. 2 3 c.1051A>G r.(?) p.(Thr351Ala) - VUS g.49568995A>G g.49531562A>G - - DAG1_000062 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.1105A>G r.(?) p.(Thr369Ala) - VUS g.49569049A>G g.49531616A>G - - DAG1_000063 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 6 c.1124C>G r.(?) p.(Ala375Gly) - likely benign g.49569068C>G g.49531635C>G A375G - DAG1_000016 1 heterozygote, 1 homozygote PubMed: Concolino 2007 - - Germline - 3/106 chromosomes - - - Johan den Dunnen
?/. 1 - c.1130T>C r.(?) p.(Ile377Thr) - VUS g.49569074T>C - DAG1(NM_001165928.3):c.1130T>C (p.I377T) - DAG1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1149C>A r.(?) p.(Gly383=) - likely benign g.49569093C>A g.49531660C>A DAG1(NM_001165928.3):c.1149C>A (p.G383=) - DAG1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 6 c.(1165C>T) r.(?) p.(Arg389*) - pathogenic g.49569109C>T g.49531676C>T C1568T (R398*) - DAG1_000000 affects p.Arg389 in zebrafish (c.1568C>T p.Arg398*) PubMed: Lin 2011 - - animal model - - - - - Johan den Dunnen
?/. 1 3 c.1205G>T r.(?) p.(Arg402Leu) - VUS g.49569149G>T g.49531716G>T - - DAG1_000064 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.1210A>G r.(?) p.(Thr404Ala) - VUS g.49569154A>G g.49531721A>G - - DAG1_000065 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 3 c.1215G>A r.(?) p.(Met405Ile) - VUS g.49569159G>A g.49531726G>A - - DAG1_000066 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.1233G>A r.(?) p.(Val411=) - likely benign g.49569177G>A g.49531744G>A DAG1(NM_001165928.3):c.1233G>A (p.V411=) - DAG1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 6 c.1236G>Y r.(?) p.(Glu412Asp) - likely benign g.49569180G>Y g.49531747G>Y E412D - DAG1_000000 1 heterozygote PubMed: Concolino 2007 - - Germline - 1/106 chromosomes - - - Johan den Dunnen
+?/. 1 3 c.1257del r.(?) p.(Thr421Glnfs*86) - likely pathogenic g.49569201del g.49531768del 1257delT - DAG1_000067 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 3 3 c.1280C>T r.(?) p.(Pro427Leu) - VUS g.49569224C>T g.49531791C>T - - DAG1_000068 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.1306A>G r.(?) p.(Thr436Ala) - VUS g.49569250A>G g.49531817A>G - - DAG1_000069 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.1307C>T r.(?) p.(Thr436Met) - VUS g.49569251C>T g.49531818C>T - - DAG1_000070 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/., ?/. 7 3, 6 c.1308G>A r.(?) p.(=) - likely benign, VUS g.49569252G>A g.49531819G>A 1702G>A (T436T) - DAG1_000024 does not influence severity IBM, no second variant PubMed: Gotlieb 2005, PubMed: Nallamilli 2018 - - Germline - - - - - Johan den Dunnen, Madhuri Hegde
?/. 1 - c.1315A>G r.(?) p.(Thr439Ala) - VUS g.49569259A>G g.49531826A>G - - DAG1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 3 3 c.1360C>T r.(?) p.(Arg454Trp) - VUS g.49569304C>T g.49531871C>T - - DAG1_000071 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 3 c.1370G>A r.(?) p.(Arg457Gln) - VUS g.49569314G>A g.49531881G>A - - DAG1_000072 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.1454G>A r.(?) p.(Ser485Asn) - VUS g.49569398G>A g.49531965G>A - - DAG1_000073 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.1471G>A r.(?) p.(Gly491Arg) - likely benign g.49569415G>A - DAG1(NM_001165928.3):c.1471G>A (p.G491R) - DAG1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 3 c.1477C>T r.(?) p.(Pro493Ser) - VUS g.49569421C>T g.49531988C>T - - DAG1_000074 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 6 c.1480A>C r.(?) p.(Asn494His) - likely pathogenic g.49569424A>C g.49531991A>C - - DAG1_000013 1 heterozygote, 8 homozygotes PubMed: Concolino 2007 - - Germline - 17/106 chromosomes - - - Johan den Dunnen
?/. 1 3 c.1571A>G r.(?) p.(Tyr524Cys) - VUS g.49569515A>G g.49532082A>G - - DAG1_000075 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.1611C>T r.(?) p.(Thr537=) - likely benign g.49569555C>T g.49532122C>T DAG1(NM_001165928.3):c.1611C>T (p.T537=) - DAG1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 3 c.1641C>T r.(?) p.(=) - VUS g.49569585C>T g.49532152C>T - - DAG1_000076 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 3 c.1690C>A r.(?) p.(Leu564Ile) - VUS g.49569634C>A g.49532201C>A - - DAG1_000077 no second variant in DAG1 PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 - c.1701C>T r.(?) p.(Ser567=) - benign g.49569645C>T g.49532212C>T DAG1(NM_001165928.3):c.1701C>T (p.S567=) - DAG1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 3 c.1719C>T r.(?) p.(=) - VUS g.49569663C>T g.49532230C>T - - DAG1_000078 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.1747G>A r.(?) p.(Gly583Arg) ACMG VUS g.49569691G>A g.49532258G>A - - DAG1_000101 ACMG PM2, PP3; in silico prediction pathogenic PubMed: Özyilmaz 2019 - rs781334046 Germline - - - - - Johan den Dunnen
?/. 2 6 c.1773C>T r.(?) p.(=) - VUS g.49569717C>T g.49532284C>T 2176C>T (F591F) - DAG1_000005 - - - rs2229010 Germline - 0.00-0.03 - - - Johan den Dunnen
?/. 1 3 c.1774G>A r.(?) p.(Glu592Lys) - VUS g.49569718G>A g.49532285G>A - - DAG1_000079 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 6 c.(1778T>A) r.(?) (p.Ile593Asp) - pathogenic g.49569722T>A g.49532289T>A - - DAG1_000000 1 more item PubMed: Gupta 2011 - - animal model - - - - - Johan den Dunnen
?/. 1 3 c.1799A>G r.(?) p.(Gln600Arg) - VUS g.49569743A>G g.49532310A>G - - DAG1_000080 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.1807A>G r.(?) p.(Arg603Gly) - VUS g.49569751A>G g.49532318A>G - - DAG1_000081 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.1877_1879del r.(?) p.(Lys626del) - VUS g.49569821_49569823del g.49532388_49532390del 1877_1879delAGA - DAG1_000082 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 3 c.1954C>T r.(?) p.(Arg652Trp) - VUS g.49569898C>T g.49532465C>T - - DAG1_000083 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.2035C>T r.(?) p.(Arg679Cys) - VUS g.49569979C>T g.49532546C>T - - DAG1_000084 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.2036G>A r.(?) p.(Arg679His) - likely benign g.49569980G>A g.49532547G>A DAG1(NM_001165928.3):c.2036G>A (p.R679H) - DAG1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 3 c.2039G>A r.(?) p.(Arg680Gln) - VUS g.49569983G>A g.49532550G>A - - DAG1_000085 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 3 c.2069C>T r.(?) p.(Pro690Leu) - VUS g.49570013C>T g.49532580C>T - - DAG1_000086 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.2082C>T r.(?) p.(=) - VUS g.49570026C>T g.49532593C>T - - DAG1_000087 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.2083G>A r.(?) p.(Ala695Thr) - VUS g.49570027G>A g.49532594G>A - - DAG1_000088 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.2124G>A r.(?) p.(Thr708=) - likely benign g.49570068G>A g.49532635G>A DAG1(NM_001165928.3):c.2124G>A (p.T708=) - DAG1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 3 c.2141G>T r.(?) p.(Arg714Leu) - VUS g.49570085G>T g.49532652G>T - - DAG1_000089 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.2171C>G r.(?) p.(Pro724Arg) - VUS g.49570115C>G g.49532682C>G - - DAG1_000090 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.2192C>T r.(?) p.(Ala731Val) - VUS g.49570136C>T g.49532703C>T - - DAG1_000091 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.2219A>G r.(?) p.(Asp740Gly) - likely benign g.49570163A>G g.49532730A>G DAG1(NM_001165928.3):c.2219A>G (p.D740G) - DAG1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.2228A>C r.(?) p.(Lys743Thr) - likely pathogenic g.49570172A>C g.49532739A>C - - DAG1_000112 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - Johan den Dunnen
-/., -?/. 7 6 c.2256C>T r.(?) p.(=), p.(His752=) - benign, likely benign g.49570200C>T g.49532767C>T 2650C>T (H752H), C>T (H752H), DAG1(NM_001165928.3):c.2256C>T (p.H752=), H752H - DAG1_000004, DAG1_000042 9 heterozygotes, 4 homozygotes, does not influence severity IBM, 1 more item PubMed: Concolino 2007, PubMed: Gotlieb 2005, PubMed: lbraghimov-Beskrovnaya 1993 - rs1801143 CLASSIFICATION record, Germline, Unknown - 17/66 chromosomes, 20/100 chromosomes - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 3 c.2326C>G r.(?) p.(Arg776Gly) - VUS g.49570270C>G g.49532837C>G - - DAG1_000093 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., ?/. 2 3 c.2326C>T r.(?) p.(Arg776Cys) - pathogenic (recessive), VUS g.49570270C>T g.49532837C>T - - DAG1_000092 - PubMed: Nallamilli 2018, PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen, Madhuri Hegde
?/. 1 - c.2327G>A r.(?) p.(Arg776His) ACMG VUS g.49570271G>A g.49532838G>A - - DAG1_000102 ACMG PM2, PM5, PP3 PubMed: Özyilmaz 2019 - rs753991804 Germline - - - - - Johan den Dunnen
-?/. 1 - c.2406C>T r.(?) p.(Asp802=) - likely benign g.49570350C>T g.49532917C>T DAG1(NM_001165928.3):c.2406C>T (p.D802=) - DAG1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2460G>A r.(?) p.(Gln820=) - likely benign g.49570404G>A g.49532971G>A DAG1(NM_001165928.3):c.2460G>A (p.Q820=) - DAG1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 6 c.2470G>A r.(?) p.(Ala824Thr) - VUS g.49570414G>A g.49532981G>A 2864G>A (T824A) - DAG1_000018 - - - rs1050090 Germline - - - - - Johan den Dunnen
?/. 1 6 c.2472T>C r.(?) p.(=) - VUS g.49570416T>C g.49532983T>C 2866T>C (A824A) - DAG1_000019 - - - rs1063411 Germline - - - - - Johan den Dunnen
?/. 2 3 c.2510C>G r.(?) p.(Pro837Arg) - VUS g.49570454C>G g.49533021C>G - - DAG1_000094 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 - c.2543dup r.(?) p.(Glu849ArgfsTer8) - likely pathogenic g.49570487dup - DAG1(NM_001165928.3):c.2543dupG (p.E849Rfs*8) - DAG1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.2571T>G r.(?) p.(Asp857Glu) - likely pathogenic g.49570515T>G g.49533082T>G - - DAG1_000046 - Lazar ASHG2018 P1192 - - Germline - - - - - Johan den Dunnen
+?/. 1 3 c.2597dup r.(?) p.(Pro867Thrfs*105) - likely pathogenic g.49570541dup g.49533108dup 2597dupC - DAG1_000095 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 2 6 c.2612C>T r.(?) p.(Ala871Val) - likely benign g.49570556C>T g.49533123C>T 3006T>C (V871A), V871A - DAG1_000017 8 heterozygotes, 5 homozygotes PubMed: Concolino 2007, PubMed: Gotlieb 2005 - - Germline, Unknown - 21/66 chromosomes - - - Johan den Dunnen
?/. 1 3 c.2618T>C r.(?) p.(Met873Thr) - VUS g.49570562T>C g.49533129T>C - - DAG1_000096 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 6 c.*38G>C r.(?) p.(=) - likely benign g.49570670G>C g.49533237G>C 3120C>G - DAG1_000020 - PubMed: Gotlieb 2005 - - Unknown - - - - - Johan den Dunnen
-/., ?/. 3 6 c.*250T>C r.(=), r.(?) p.(=) - benign, VUS g.49570882T>C g.49533449T>C 3332C>T, DAG1(NM_001165928.3):c.*250T>C - DAG1_000006 VKGL data sharing initiative Nederland - - rs050088, rs1050088 CLASSIFICATION record, Germline - 0.25-0.89 - - - Johan den Dunnen, VKGL-NL_Groningen
?/. 1 6 c.*830G>T r.(?) p.(=) - VUS g.49571462G>T g.49534029G>T - - DAG1_000007 - - - rs12583 Germline - 0.30-0.42 - - - Johan den Dunnen
?/. 1 6 c.*1341C>T r.(?) p.(=) - VUS g.49571973C>T g.49534540C>T 4420C>T - DAG1_000021 - - - rs11340 Germline - - - - - Johan den Dunnen
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