Unique variants in the DONSON gene

Information The variants shown are described using the NM_017613.3 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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 - c.74G>A - r.(?) p.(Arg25Lys) - likely benign g.34960874C>T g.33588568C>T DONSON(NM_017613.3):c.74G>A (p.(Arg25Lys)) - CRYZL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 2 - c.82A>C - r.(?) p.(Ser28Arg) ACMG likely pathogenic, likely pathogenic (recessive) g.34960866T>G - c.[82A>C;1466A>C] (p.[S28R;K489T]) haplotype, DONSON(NM_017613.4):c.82A>C (p.S28R) - CRYZL1_000006 VKGL data sharing initiative Nederland, 1 more item PMID: 28191891 VCV000431446.12 - CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_VUmc
-?/. 9 1 c.82A>Cˆ84C>R - -, r.(?), r.82a>cˆ84c>r p.(Ser28Arg), p.Ser28Arg - likely benign, NA g.(34960864_34960866?) - S28R - DONSON_000004 variant not described on DNA level, one of three co-segregating variants, 3 more items PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline, In vitro (cloned) -, yes 1/21 cases - - - Johan den Dunnen, Lynn Boekhoudt
-?/. 1 - c.245G>A - r.(?) p.(Arg82His) - likely benign g.34960703C>T - DONSON(NM_017613.4):c.245G>A (p.R82H) - CRYZL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.314C>G - r.(?) p.(Pro105Arg) - likely benign g.34960634G>C g.33588328G>C DONSON(NM_017613.3):c.314C>G (p.(Pro105Arg)) - CRYZL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 4 c.661T>C pathogenic, recessive r.(?) p.(Trp221Arg) - pathogenic g.34957020A>G g.33584714A>G - - DONSON_000023 - - - - Germline yes - - - - Martin Atta Mensah
+/. 1 - c.670C>T - r.(?) p.(Pro224Ser) - pathogenic g.34957011G>A - DONSON(NM_017613.3):c.670C>T (p.(Pro224Ser)) - CRYZL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 8 4i c.786-33A>G - r.(=), r.= p.(=), p.= - benign g.34956005T>C g.33583699T>C - - DONSON_000002 one of three co-segregating variants PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/21 cases - - - Johan den Dunnen, Lynn Boekhoudt
+/. 9 4i c.786-22A>G - r.786_964del, r.spl p.(=), p.Ser263Tyrfs*2 - pathogenic g.34955994T>C g.33583688T>C - - DONSON_000011 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/256 cases - - - Lynn Boekhoudt
+/? 1 5i c.786-7T>C - r.(=) p.(=) - pathogenic g.34955979A>G g.33583673A>G c.786-7T>C - DONSON_000019 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline - 1/256 cases - - - Lynn Boekhoudt
?/. 1 5 c.832T>C - r.(?) p.(Cys278Arg) - VUS g.34955926A>G g.33583620A>G c.832T>C and/or c.845A>G - DONSON_000016 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/256 cases - - - Lynn Boekhoudt
+/., ?/. 2 5 c.845A>G - r.(?) p.(Tyr282Cys), p.Tyr282Cys - NA, pathogenic g.34955913T>C g.33583607T>C c.832T>C and/or c.845A>G, Y282C - DONSON_000006 expression cloning showed disrupted subcellular localization (0.05) PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline, In vitro (cloned) -, yes 1/256 cases - - - Johan den Dunnen, Lynn Boekhoudt
+/. 2 5, 6 c.876C>G - r.(?) p.(Phe292Leu), p.Phe292Leu - NA, pathogenic g.34955882G>C g.33583576G>C - - DONSON_000007 expression cloning showed disrupted subcellular localization (0.1) PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline, In vitro (cloned) yes 1/256 cases - - - Johan den Dunnen, Lynn Boekhoudt
+/. 2 - c.877C>T - r.(?) p.(Arg293*) ACMG pathogenic, pathogenic (recessive) g.34955881G>A g.33583575G>A c.877C>T - DONSON_000020 PVS1, PM3, PM2_SUP PMID: 28191891, 35298084, PubMed: Reynolds 2017, Journal: Reynolds 2017 VCV001687665.2 - Germline -, yes 1/256 cases - - - Andreas Laner, Lynn Boekhoudt
+/. 2 6 c.1032C>T - r.(1023c>u) p.(Ser344Ser) - pathogenic g.34954485G>A g.33582179G>A - - DONSON_000009 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/256 cases - - - Lynn Boekhoudt
+/. 4 6i c.1047-9A>G - r.(=), r.spl, r.[?, 1046_1047ins1046+1_1047-10insgins1047-8_1047-1, =] p.(=) - pathogenic g.34954370T>C g.33582064T>C c.1047-9A>G (SS), DONSON(NM_017613.4):c.1047-9A>G - DONSON_000010 VKGL data sharing initiative Nederland PubMed: Reynolds 2017, Journal: Reynolds 2017 - - CLASSIFICATION record, Germline yes 1/256 cases - - - Lynn Boekhoudt, VKGL-NL_Utrecht
+/. 2 6i c.1047-2A>G - r.spl p.? - pathogenic g.34954363T>C g.33582057T>C - - DONSON_000022 compound heterozygous - - - Germline yes - - - - Martin Atta Mensah
+/. 3 8 c.1251_1256del - r.(1251_1256del), r.(?) p.(Asn417_Ser418del), p.Asn417_Ser418del - NA, pathogenic g.34953705_34953710del g.33581399_33581404del 1251_1256delCTCTAA - DONSON_000001 expression cloning showed disrupted subcellular localization (0.35) PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline, In vitro (cloned) -, yes 1/256 cases - - - Johan den Dunnen, Lynn Boekhoudt
+/., +?/. 4 8 c.1254dup - r.(1254dup), r.(?) p.(Lys419*) - likely pathogenic, pathogenic g.34953704dup g.33581398dup c.1254dupT, DONSON(NM_017613.4):c.1254dupT (p.K419*) - DONSON_000014 VKGL data sharing initiative Nederland PubMed: Reynolds 2017, Journal: Reynolds 2017 - - CLASSIFICATION record, Germline yes 1/256 cases - - - Lynn Boekhoudt, VKGL-NL_VUmc
+/. 2 10 c.1282C>T - r.(1282c>u), r.(?) p.(Gln428*) - pathogenic g.34953676G>A g.33581370G>A - - DONSON_000017 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline - 1/256 cases - - - Lynn Boekhoudt
+/. 1 8 c.1297C>T - r.(1297c>u) p.(Pro433Ser) - pathogenic g.34953661G>A g.33581355G>A - - DONSON_000012 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/256 cases - - - Lynn Boekhoudt
?/. 1 - c.1327G>A - r.(?) p.(Gly443Ser) - VUS g.34953631C>T - DONSON(NM_017613.3):c.1327G>A (p.(Gly443Ser)) - DONSON_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 4 8 c.1337T>C - r.(1337u>c), r.(?) p.(Met446Thr), p.Met446Thr - NA, pathogenic g.34953621A>G g.33581315A>G M446T - DONSON_000005 1 more item PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline, In vitro (cloned) -, yes 1/256 cases - - - Johan den Dunnen, Lynn Boekhoudt
-?/. 1 - c.1351G>T - r.(?) p.(Ala451Ser) - likely benign g.34951868C>A - DONSON(NM_017613.3):c.1351G>T (p.(Ala451Ser)) - DONSON_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 3 9 c.1433C>T - r.(?) p.(Pro478Leu) - pathogenic g.34951786G>A g.33579480G>A - - DONSON_000021 - - - - Germline yes - - - - Martin Atta Mensah
+/. 9 9 c.1466A>C - r.(1466a>c), r.(?), r.1466a>c p.(Lys489Thr), p.Lys489Thr - NA, pathogenic g.34951753T>G g.33579447T>G K489T - DONSON_000003 one of three co-segregating variants, 1 more item PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline, In vitro (cloned) -, yes 1/21 cases - - - Johan den Dunnen, Lynn Boekhoudt
+/. 1 9 c.1474_1475del - r.(1474_1475del) p.(Gln492Glufs*18) - pathogenic g.34951746_34951747del g.33579440_33579441del 1474_1475delCA - DONSON_000018 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline - 1/256 cases - - - Lynn Boekhoudt
+/. 2 9 c.1510G>A - r.(1510g>a) p.(Glu504Lys) - pathogenic g.34951709C>T g.33579403C>T - - DONSON_000013 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline yes 1/256 cases - - - Lynn Boekhoudt
-?/. 1 - c.1586C>T - r.(?) p.(Thr529Ile) - likely benign g.34950728G>A g.33578422G>A DONSON(NM_017613.3):c.1586C>T (p.(Thr529Ile)) - DONSON_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 3 10 c.1628_1630dup - r.(1628_1630dup), r.(?) p.(Gln543_Ile544insLys), p.Gln543_Ile544insLys - NA, pathogenic g.34950684_34950686dup g.33578378_33578380dup 1628_1630dupAAA, Q543_I544insK - DONSON_000008 expression cloning showed disrupted subcellular localization (0.3) PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline, In vitro (cloned) -, yes 1/256 cases - - - Johan den Dunnen, Lynn Boekhoudt
?/. 1 - c.1633C>T - r.(?) p.(Pro545Ser) - VUS g.34950681G>A g.33578375G>A DONSON(NM_017613.3):c.1633C>T (p.(Pro545Ser)) - DONSON_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1675_1676del - r.(?) p.(Asp559Leufs*4) - VUS g.34950642_34950643del - DONSON(NM_017613.4):c.1675_1676delGA (p.D559Lfs*4) - DONSON_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 10 c.1686dup - r.(?) p.(Asn563*) - pathogenic g.34950628dup g.33578322dup - - DONSON_000015 - PubMed: Reynolds 2017, Journal: Reynolds 2017 - - Germline - 1/256 cases - - - Lynn Boekhoudt
-?/. 1 - c.*1631T>G - r.(=) p.(=) - likely benign g.34948982A>C - SON(NM_138927.1):c.*252A>C (p.(=)) - DONSON_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*1775G>A - r.(=) p.(=) - VUS g.34948838C>T - SON(NM_138927.2):c.*108C>T (p.?) - DONSON_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.*1916del - r.(?) p.(=) - benign g.34948697del g.33576391del SON(NM_138927.2):c.7248delA (p.R2416Sfs*8) - DONSON_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*2483C>T - r.(=) p.(=) - likely benign g.34948130G>A g.33575824G>A SON(NM_138927.2):c.7152G>A (p.R2384=) - DONSON_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.*2499A>C - r.(=) p.(=) - VUS g.34948114T>G - SON(NM_138927.4):c.7136T>G (p.I2379S) - DONSON_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*2545A>G - r.(=) p.(=) - likely benign g.34948068T>C g.33575762T>C SON(NM_138927.2):c.7106-16T>C - DONSON_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.*2630G>A - r.(=) p.(=) - likely benign g.34947983C>T g.33575677C>T SON(NM_138927.2):c.7105+10C>T - DONSON_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.*2671C>T - r.(=) p.(=) - likely benign g.34947942G>A g.33575636G>A SON(NM_138927.2):c.7074G>A (p.G2358=) - DONSON_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*4834C>T - r.(=) p.(=) - likely benign g.34945779G>A g.33573473G>A SON(NM_138927.2):c.7033+18G>A - DONSON_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*11028A>C - r.(=) p.(=) - likely benign g.34939585T>G g.33567279T>G SON(NM_138927.2):c.6768+12T>G - DONSON_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.*11117C>A - r.(=) p.(=) - VUS g.34939496G>T - SON(NM_138927.4):c.6691G>T (p.A2231S) - DONSON_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*18203C>A - r.(=) p.(=) - likely benign g.34932410G>T - SON(NM_032195.2):c.6885G>T (p.(Arg2295Ser)) - DONSON_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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