Full data view for gene SON

Information The variants shown are described using the NM_138927.2 transcript reference sequence.

205 entries on 3 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     
+/. _1_12_ c.-55_*1090[0] r.0 p.0 Unknown - pathogenic (dominant) g.(34877993_34894566)_(35278567_3559909)del - - 21q22.11q22.11(34894566-3527867)x1 dn SON_000017 deletion includes GART, SON, DONSON, CRYZL1 and ITSN1 PubMed: Kim 2016, Journal: Kim 2016 - - De novo - - - - - DNA SEQ - - ID - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. _1_12_ c.-55_*1090[0] r.0 p.0 Unknown - pathogenic (dominant) g.(?_31391467)_(39118687_?)del - h919 31,391,467–39,118,687del - SON_000059 - PubMed: Braddock 1994, PubMed: Braddock 2016 - - De novo - - - - - DNA arraySNP - Affymetrix SNP 6.0 ? Pat1 PubMed: Braddock 1994, PubMed: Braddock 2016 - F - United States - - - - - 1 Johan den Dunnen
+/. _1_12_ c.-55_*1090[0] r.0 p.0 Unknown - pathogenic (dominant) g.(?_26968514)_(36909426_?)del - hg19 26,968,514–36,909,426del - SON_000059 - PubMed: Braddock 1994, PubMed: Braddock 2016 - - De novo - - - - - DNA arraySNP - Affymetrix MIP Microarray ? Pat2 PubMed: Braddock 1994, PubMed: Braddock 2016 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.-55_*1090[0] r.0 p.0 Unknown - pathogenic (dominant) g.(?_33351319)_(35246835_?)del - 46,XX.arr 21q22.11 (32,273,189–34,168,705)x1 dn hg18 - SON_000059 1.9 Mb deletion PubMed: Izumi 2012 - - De novo - - - - - DNA arraySNP - Affymetrix Cytogenetics Whole‐Genome 2.7M array ? patient PubMed: Izumi 2012 - F - United States - - - - - 1 Johan den Dunnen
+/. _1_12_ c.-55_*1090{0} r.0? p.0? Unknown - pathogenic g.(?_34915344)_(34949820_?)del - - - SON_000090 0.19 Mb deletion SON gene exact coordinates unknown PubMed: Dingemans 2022, Journal: Dingemans 2022 - - De novo - - - - - DNA SEQ-NG - - ZTTKS Pat7 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - 1 Alexander Dingemans
-?/. - c.137C>T r.(?) p.(Ala46Val) Unknown - likely benign g.34918578C>T - SON(NM_032195.3):c.137C>T (p.A46V) - GART_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.138G>A r.(?) p.(Ala46=) Unknown - likely benign g.34918579G>A - SON(NM_138927.2):c.138G>A (p.A46=) - GART_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.268del r.(?) p.(Ser90Valfs*59) Unknown - pathogenic g.34921805del g.33549499del - - SON_000014 - PubMed: Kim 2016, Journal: Kim 2016 - - De novo - - - - - DNA SEQ - - ID - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.268del r.(?) p.(Ser90Valfs*59) Unknown - pathogenic (dominant) g.34921805del - 268delC - SON_000014 - PubMed: Mahler 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Pat20 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected non-carrier parents - yes Germany - - - - - 1 Johan den Dunnen
+/. - c.286C>T r.(?) p.(Gln96*) Unknown - pathogenic (dominant) g.34921823C>T g.33549517C>T - - SON_000061 - PubMed: Tokita 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Subject 4 PubMed: Tokita 2016 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.335A>G r.(?) p.(Lys112Arg) Unknown - likely benign g.34921872A>G - SON(NM_138927.2):c.335A>G (p.(Lys112Arg)) - SON_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.348_351del r.(?) p.(Asn116Lysfs*32) Unknown - pathogenic g.34921885_34921888del .33549579_33549582del - - SON_000085 - PubMed: Dingemans 2022, Journal: Dingemans 2022 - - Germline - - - - - DNA SEQ-NG - - ZTTKS Pat12 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - 1 Alexander Dingemans
-?/. - c.359A>G r.(?) p.(Lys120Arg) Unknown - likely benign g.34921896A>G - - - SON_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.384del r.(?) p.(Lys128Asnfs*21) Unknown - pathogenic g.34921921del g.33549615del - - SON_000086 - PubMed: Dingemans 2022, Journal: Dingemans 2022 - - De novo - - - - - DNA SEQ-NG - - ZTTKS Pat6 PubMed: Dingemans 2022, Journal: Dingemans 2022 - F - - - - - - - 1 Alexander Dingemans
+/. - c.394C>T r.(?) p.(Gln132*) Unknown - pathogenic (dominant) g.34921931C>T g.33549625C>T - - SON_000066 - PubMed: Yang 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - - ID patient PubMed: Yang 2019 2-generation family, 1 affected, unaffected parents F - China - - - - - 1 Johan den Dunnen
+/. - c.457del r.(?) p.(Asp153Ilefs*4) Unknown - pathogenic g.34921994del g.33549688del - - SON_000087 - PubMed: Dingemans 2022, Journal: Dingemans 2022 - - De novo - - - - - DNA SEQ-NG - - ZTTKS Pat5 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - 1 Alexander Dingemans
-?/. - c.497C>T r.(?) p.(Ala166Val) Unknown - likely benign g.34922034C>T - SON(NM_138927.2):c.497C>T (p.A166V) - SON_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.607G>C r.(?) p.(Glu203Gln) Unknown - likely benign g.34922144G>C g.33549838G>C SON(NM_138927.4):c.607G>C (p.E203Q) - SON_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.657A>G r.(?) p.(Thr219=) Unknown - likely benign g.34922194A>G - SON(NM_138927.2):c.657A>G (p.T219=) - SON_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668C>T r.(?) p.(Ser223Leu) Unknown - VUS g.34922205C>T g.33549899C>T SON(NM_138927.4):c.668C>T (p.S223L) - SON_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.668C>T r.(?) p.(Ser223Leu) Unknown - pathogenic g.34922205C>T - - - SON_000019 - PubMed: Dingemans 2022, Journal: Dingemans 2022 - - Germline - - - - - DNA SEQ-NG - - ZTTKS Pat15 PubMed: Dingemans 2022, Journal: Dingemans 2022 - F - - - - - - - 1 Alexander Dingemans
-?/. - c.737C>T r.(?) p.(Ala246Val) Unknown - likely benign g.34922274C>T - SON(NM_138927.2):c.737C>T (p.A246V) - SON_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.763C>G r.(?) p.(Leu255Val) Unknown - likely benign g.34922300C>G - SON(NM_138927.2):c.763C>G (p.(Leu255Val)) - SON_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850_861del r.(?) p.(Pro284_Ser287del) Unknown - VUS g.34922387_34922398del - SON(NM_138927.4):c.850_861delCCAGAGCCATCA (p.P284_S287del) - SON_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.978G>A r.(?) p.(Met326Ile) Unknown - likely benign g.34922515G>A - SON(NM_138927.2):c.978G>A (p.M326I) - SON_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1000A>G r.(?) p.(Ile334Val) Unknown - likely benign g.34922537A>G - SON(NM_138927.2):c.1000A>G (p.(Ile334Val)) - SON_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1007C>T r.(?) p.(Ala336Val) Unknown - likely benign g.34922544C>T g.33550238C>T SON(NM_138927.2):c.1007C>T (p.A336V) - SON_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1035C>T r.(?) p.(Asp345=) Unknown - likely benign g.34922572C>T - SON(NM_138927.2):c.1035C>T (p.D345=) - SON_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1052C>G r.(?) p.(Ala351Gly) Unknown - VUS g.34922589C>G - SON(NM_138927.2):c.1052C>G (p.(Ala351Gly)) - SON_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1199C>T r.(?) p.(Thr400Ile) Unknown - VUS g.34922736C>T - SON(NM_138927.2):c.1199C>T (p.(Thr400Ile)) - SON_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1267C>T r.(?) p.(Pro423Ser) Unknown - likely benign g.34922804C>T - SON(NM_138927.2):c.1267C>T (p.P423S) - SON_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1389_1409dup r.(?) p.(Gln467_Pro473dup) Unknown - VUS g.34922926_34922946dup - SON(NM_032195.3):c.1389_1409dupGGAGCCACCACAGGAGGTACC (p.Q467_P473dup) - SON_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1390G>A r.(?) p.(Glu464Lys) Unknown - likely benign g.34922927G>A - SON(NM_138927.2):c.1390G>A (p.(Glu464Lys)) - SON_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1398A>T r.(?) p.(Pro466=) Unknown - likely benign g.34922935A>T g.33550629A>T SON(NM_138927.2):c.1398A>T (p.P466=) - SON_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1412A>G r.(?) p.(Glu471Gly) Unknown - likely benign g.34922949A>G - SON(NM_138927.2):c.1412A>G (p.(Glu471Gly)) - SON_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1444del r.(?) p.(Leu482Cysfs*4) Unknown - pathogenic (dominant) g.34922981del g.33550675del - - SON_000065 - PubMed: Quintana Castanedo 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - 1572 gene disease gene panel ID patient PubMed: Quintana Castanedo 2020 2-generation family, 1 affected, unaffected parents F - Spain - - - - - 1 Johan den Dunnen
?/. - c.1650_1685del r.(?) p.(Val553_Pro564del) Unknown - VUS g.34923187_34923222del - SON(NM_032195.3):c.1650_1685del (p.V553_P564del) - SON_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1664C>T r.(?) p.(Thr555Met) Unknown - likely benign g.34923201C>T g.33550895C>T SON(NM_032195.3):c.1664C>T (p.T555M), SON(NM_138927.2):c.1664C>T (p.T555M) - SON_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1664C>T r.(?) p.(Thr555Met) Unknown - likely benign g.34923201C>T - SON(NM_032195.3):c.1664C>T (p.T555M), SON(NM_138927.2):c.1664C>T (p.T555M) - SON_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1670C>T r.(?) p.(Ala557Val) Unknown - likely benign g.34923207C>T g.33550901C>T SON(NM_138927.2):c.1670C>T (p.A557V) - SON_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1715T>A r.(?) p.(Leu572*) Unknown - pathogenic g.34923252T>A - SON(NM_138927.4):c.1715T>A (p.L572*) - SON_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1736C>G r.(?) p.(Thr579Ser) Unknown - pathogenic g.34923273C>G - - - SON_000088 - PubMed: Dingemans 2022, Journal: Dingemans 2022 - - Germline - - - - - DNA SEQ-NG - - ZTTKS Pat18 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - 1 Alexander Dingemans
-?/. - c.1792G>A r.(?) p.(Gly598Arg) Unknown - likely benign g.34923329G>A g.33551023G>A SON(NM_032195.1):c.1792G>A (p.(Gly598Arg)) - SON_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1793G>A r.(?) p.(Gly598Glu) Unknown - likely benign g.34923330G>A g.33551024G>A SON(NM_032195.1):c.1793G>A (p.(Gly598Glu)) - SON_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.1881_1882del r.(?) p.(Val629Alafs*56) Unknown - pathogenic g.34923418_34923419del g.33551112_33551113del - - SON_000001 - PubMed: Gilissen 2014, PubMed: Kim 2016, Journal: Kim 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - ID - PubMed: Gilissen 2014, PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents F ? Netherlands - - - - - 1 Marianne Vos (LOVD-team)
+/. - c.1881_1882del r.(?) p.(Val629Alafs*56) Unknown - pathogenic g.34923418_34923419del g.33551112_33551113del - - SON_000001 - PubMed: Dingemans 2022, Journal: Dingemans 2022 - - Germline - - - - - DNA SEQ-NG - - ZTTKS Pat17 PubMed: Dingemans 2022, Journal: Dingemans 2022 - F - - - - - - - 1 Alexander Dingemans
+?/. - c.1979del r.(?) p.(Thr660Lysfs*8) Unknown - likely pathogenic g.34923516del - SON(NM_138927.2):c.1979delC (p.(Thr660fs)) - SON_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2080A>G r.(?) p.(Thr694Ala) Unknown - likely benign g.34923617A>G g.33551311A>G SON(NM_138927.2):c.2080A>G (p.T694A) - SON_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2166_2168dup r.(?) p.(Thr723dup) Unknown - VUS g.34923703_34923705dup - SON(NM_032195.3):c.2166_2168dupGAC (p.T723dup), SON(NM_138927.4):c.2166_2168dup (p.(Thr723dup)) - SON_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2166_2168dup r.(?) p.(Thr723dup) Unknown - likely benign g.34923703_34923705dup - SON(NM_032195.3):c.2166_2168dupGAC (p.T723dup), SON(NM_138927.4):c.2166_2168dup (p.(Thr723dup)) - SON_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2206C>G r.(?) p.(Leu736Val) Unknown - likely benign g.34923743C>G - SON(NM_138927.2):c.2206C>G (p.(Leu736Val)) - SON_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2236C>A r.(?) p.(Leu746Ile) Unknown - VUS g.34923773C>A g.33551467C>A SON(NM_032195.3):c.2236C>A (p.L746I), SON(NM_138927.2):c.2236C>A (p.L746I) - SON_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2236C>A r.(?) p.(Leu746Ile) Unknown - likely benign g.34923773C>A g.33551467C>A SON(NM_032195.3):c.2236C>A (p.L746I), SON(NM_138927.2):c.2236C>A (p.L746I) - SON_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2240C>T r.(?) p.(Ala747Val) Unknown - VUS g.34923777C>T - SON(NM_138927.2):c.2240C>T (p.(Ala747Val)) - SON_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2305A>G r.(?) p.(Ser769Gly) Unknown - VUS g.34923842A>G - SON(NM_032195.3):c.2305A>G (p.S769G) - SON_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2362A>G r.(?) p.(Thr788Ala) Unknown - likely benign g.34923899A>G - SON(NM_138927.2):c.2362A>G (p.(Thr788Ala)) - SON_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2364T>C r.(?) p.(Thr788=) Unknown - likely benign g.34923901T>C - SON(NM_138927.2):c.2364T>C (p.T788=) - SON_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.2365del r.(?) p.(Ser789Alafs*8) Unknown - pathogenic g.34923902del g.33551596del - - SON_000012 - PubMed: Kim 2016, Journal: Kim 2016 - - De novo - - - - - DNA SEQ - - ID - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.2367C>A r.(?) p.(Ser789Arg) Unknown - VUS g.34923904C>A - SON(NM_138927.4):c.2367C>A (p.(Ser789Arg)) - SON_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2390C>G r.(?) p.(Ala797Gly) Unknown - VUS g.34923927C>G - - - SON_000106 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2401A>G r.(?) p.(Met801Val) Unknown - VUS g.34923938A>G - SON(NM_032195.3):c.2401A>G (p.M801V) - SON_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2422A>G r.(?) p.(Thr808Ala) Unknown - likely benign g.34923959A>G g.33551653A>G SON(NM_138927.4):c.2422A>G (p.T808A) - SON_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2443A>C r.(?) p.(Met815Leu) Unknown - likely benign g.34923980A>C - SON(NM_032195.3):c.2443A>C (p.M815L), SON(NM_138927.2):c.2443A>C (p.M815L) - SON_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2443A>C r.(?) p.(Met815Leu) Unknown - likely benign g.34923980A>C - SON(NM_032195.3):c.2443A>C (p.M815L), SON(NM_138927.2):c.2443A>C (p.M815L) - SON_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2581A>G r.(?) p.(Met861Val) Unknown - likely benign g.34924118A>G - SON(NM_138927.2):c.2581A>G (p.M861V) - SON_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2592G>C r.(?) p.(Gln864His) Unknown - VUS g.34924129G>C - SON(NM_032195.3):c.2592G>C (p.Q864H) - SON_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2611A>G r.(?) p.(Met871Val) Unknown - likely benign g.34924148A>G - SON(NM_138927.2):c.2611A>G (p.M871V) - SON_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2655G>A r.(?) p.(Met885Ile) Unknown - VUS g.34924192G>A - SON(NM_138927.2):c.2655G>A (p.(Met885Ile)) - SON_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.2680C>T r.(?) p.(Gln894*) Unknown ACMG pathogenic (dominant) g.34924217C>T g.33551911C>T - - SON_000142 - - - - De novo - - - - - DNA SEQ-NG-I peripheral blood WES ? - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. - c.2734G>C r.(?) p.(Asp912His) Unknown - VUS g.34924271G>C - SON(NM_138927.2):c.2734G>C (p.(Asp912His)) - SON_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2763C>A r.(?) p.(Tyr921Ter) Unknown - pathogenic g.34924300C>A g.33551994C>A SON(NM_138927.1):c.2763C>A (p.(Tyr921Ter)) - SON_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2918C>T r.(?) p.(Ala973Val) Unknown - likely benign g.34924455C>T - SON(NM_032195.3):c.2918C>T (p.A973V), SON(NM_138927.2):c.2918C>T (p.(Ala973Val)) - SON_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2918C>T r.(?) p.(Ala973Val) Unknown - likely benign g.34924455C>T - SON(NM_032195.3):c.2918C>T (p.A973V), SON(NM_138927.2):c.2918C>T (p.(Ala973Val)) - SON_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3012T>C r.(?) p.(Ala1004=) Unknown - likely benign g.34924549T>C g.33552243T>C SON(NM_138927.2):c.3012T>C (p.A1004=) - SON_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3012T>C r.(?) p.(Ala1004=) Unknown - likely benign g.34924549T>C g.33552243T>C SON(NM_138927.2):c.3012T>C (p.A1004=) - SON_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3038dup r.(?) p.(Tyr1013*) Unknown - pathogenic g.34924575dup g.33552269dup - - SON_000072 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
-?/. - c.3039C>T r.(?) p.(Tyr1013=) Unknown - likely benign g.34924576C>T g.33552270C>T SON(NM_138927.2):c.3039C>T (p.Y1013=) - SON_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3070A>G r.(?) p.(Met1024Val) Unknown - VUS g.34924607A>G - SON(NM_138927.2):c.3070A>G (p.(Met1024Val)) - SON_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3073dup r.(?) p.(Met1025Asnfs*6) Unknown - pathogenic (dominant) g.34924610dup g.33552304dup 3073dupA - SON_000062 - PubMed: Tokita 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Subject 6 PubMed: Tokita 2016 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.3129_3152del r.(?) p.(Ala1044_Ser1051del) Unknown - likely benign g.34924666_34924689del - SON(NM_032195.3):c.3129_3152delAGCCTACGAGCGCTCTATGATGTC (p.A1044_S1051del) - SON_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3203C>G r.? p.(Ser1068*) Unknown - pathogenic g.34924740C>G - - - SON_000089 - PubMed: Dingemans 2022, Journal: Dingemans 2022 - - De novo - - - - - DNA SEQ-NG - - ZTTKS Pat4 PubMed: Dingemans 2022, Journal: Dingemans 2022 - F - - - - - - - 1 Alexander Dingemans
?/. - c.3204_3227del r.(?) p.(Ala1069_Ser1076del) Unknown - VUS g.34924741_34924764del - SON(NM_138927.2):c.3204_3227delAGCTTATGAACGCTCCATGATGTC (p.A1069_S1076del) - SON_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3235G>T r.(?) p.(Ala1079Ser) Unknown - VUS g.34924772G>T g.33552466G>T SON(NM_032195.1):c.3235G>T (p.(Ala1079Ser)) - SON_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.3281dup r.(?) p.(Ser1095Valfs*6) Unknown ACMG pathogenic (dominant) g.34924818dup g.33552512dup - - SON_000084 - - - - De novo yes - - - - DNA SEQ-NG blood WGS ZTTKS iw107 - - F no China Chinese - - - - 1 Wenjuan Qiu
-?/. - c.3307A>G r.(?) p.(Met1103Val) Unknown - likely benign g.34924844A>G - SON(NM_032195.3):c.3307A>G (p.M1103V) - SON_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3326C>T r.(?) p.(Ala1109Val) Unknown - likely benign g.34924863C>T g.33552557C>T SON(NM_032195.3):c.3326C>T (p.A1109V), SON(NM_138927.2):c.3326C>T (p.A1109V) - SON_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3326C>T r.(?) p.(Ala1109Val) Unknown - likely benign g.34924863C>T - SON(NM_032195.3):c.3326C>T (p.A1109V), SON(NM_138927.2):c.3326C>T (p.A1109V) - SON_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.3334C>T r.(?) p.(Arg1112*) Unknown - pathogenic g.34924871C>T g.33552565C>T - - SON_000013 - PubMed: Kim 2016, Journal: Kim 2016 - - De novo - - - - - DNA SEQ - - ID - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.3334C>T r.(?) p.(Arg1112*) Unknown - pathogenic g.34924871C>T - - - SON_000013 - PubMed: Dingemans 2022, Journal: Dingemans 2022 - - Germline - - - - - DNA SEQ-NG - - ZTTKS Pat16 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - 1 Alexander Dingemans
+/. - c.3449del r.(?) p.(Pro1150Leufs*18) Unknown - pathogenic g.34924986del g.33552680del - - SON_000073 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
-?/. - c.3477G>A r.(?) p.(Pro1159=) Unknown - likely benign g.34925014G>A - SON(NM_138927.2):c.3477G>A (p.P1159=) - SON_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.3597_3598dup r.(?) p.(Pro1200Argfs*17) Unknown - pathogenic g.34925134_34925135dup g.33552828_33552829dup - - SON_000010 - PubMed: Kim 2016, Journal: Kim 2016 - - De novo - - - - - DNA SEQ - - ID - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.3650A>T r.(?) p.(Gln1217Leu) Unknown - VUS g.34925187A>T - SON(NM_032195.3):c.3650A>T (p.Q1217L) - SON_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3688_3741dup r.(?) p.(Tyr1230_Thr1247dup) Unknown - likely benign g.34925225_34925278dup g.33552919_33552972dup SON(NM_032195.3):c.3688_3741dup (p.Y1230_T1247dup), SON(NM_138927.2):c.3688_3741dup (p.Y1230_T1247dup) - SON_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3688_3741dup r.(?) p.(Tyr1230_Thr1247dup) Unknown - likely benign g.34925225_34925278dup - SON(NM_032195.3):c.3688_3741dup (p.Y1230_T1247dup), SON(NM_138927.2):c.3688_3741dup (p.Y1230_T1247dup) - SON_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3711del r.(?) p.(Ser1238GlnfsTer3) Unknown - pathogenic g.34925248del - SON(NM_138927.4):c.3711delC (p.S1238Qfs*3) - SON_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3711del r.(?) p.(Ser1238Glnfs*3) Unknown - pathogenic g.34925248del g.33552942del - - SON_000023 - PubMed: Dingemans 2022, Journal: Dingemans 2022 - - De novo - - - - - DNA SEQ-NG - - ZTTKS Pat8 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - 1 Alexander Dingemans
+/. - c.3711del r.(?) p.(Ser1238Glnfs*3) Unknown - pathogenic g.34925248del g.33552942del - - SON_000023 - PubMed: Dingemans 2022, Journal: Dingemans 2022 - - Germline - - - - - DNA SEQ-NG - - ZTTKS Pat9 PubMed: Dingemans 2022, Journal: Dingemans 2022 - F - - - - - - - 1 Alexander Dingemans
-?/. - c.3726A>G r.(?) p.(Ser1242=) Unknown - likely benign g.34925263A>G g.33552957A>G SON(NM_138927.2):c.3726A>G (p.S1242=) - SON_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3772T>G r.(?) p.(Ser1258Ala) Unknown - VUS g.34925309T>G - SON(NM_138927.2):c.3772T>G (p.(Ser1258Ala)) - SON_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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