Full data view for gene ZMYM2

Information The variants shown are described using the NM_197968.2 transcript reference sequence.

74 entries on 1 page. Showing entries 1 - 74.
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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.181_183del r.(?) p.(Val61del) Unknown - likely benign g.20567393_20567395del g.19993253_19993255del - - ZMYM2_000003 - PubMed: Connaughton 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CAKUT SSC1-21 PubMed: Connaughton 2020 - M - Poland - - - - - 1 Johan den Dunnen
-?/. - c.377A>C r.(?) p.(Glu126Ala) Unknown - likely benign g.20567589A>C g.19993449A>C - - ZMYM2_000004 - PubMed: Connaughton 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CAKUT A781-21 PubMed: Connaughton 2020 - F - Macedonia - - - - - 1 Johan den Dunnen
-?/. - c.454G>C r.(?) p.(Asp152His) Unknown - likely benign g.20567666G>C - ZMYM2(NM_003453.5):c.454G>C (p.D152H) - ZMYM2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.474del r.(?) p.(Ser159Valfs*7) Unknown - pathogenic g.20567686del - ZMYM2(NM_003453.5):c.474delC (p.S159Vfs*7) - ZMYM2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.532C>T r.(?) p.(Pro178Ser) Unknown - VUS g.20567744C>T - ZMYM2(NM_003453.6):c.532C>T (p.P178S) - ZMYM2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.622C>T r.(?) p.(Arg208*) Unknown - pathogenic (dominant) g.20567834C>T g.19993694C>T - - ZMYM2_000005 mosaic 0.20 PubMed: Connaughton 2020 - - Somatic - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM10-21 PubMed: Connaughton 2020 - F - Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.737del r.(?) p.(Pro246Hisfs*3) Unknown ACMG likely pathogenic (dominant) g.20567949del g.19993809del - - ZMYM2_000034 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - DNA SEQ-NG-I Blood - NECRC 211248 - - F no Germany - - - - - 1 Andreas Laner
+/. 3 c.766_767dup r.(?) p.(Gly257*) Unknown - pathogenic (dominant) g.20567978_20567979dup g.19993838_19993839dup - - ZMYM2_000006 - PubMed: Connaughton 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM1-21 PubMed: Connaughton 2020 - M - United States - - - - - 1 Johan den Dunnen
?/. - c.797T>C r.(?) p.(Val266Ala) Unknown - VUS g.20568009T>C - ZMYM2(NM_003453.6):c.797T>C (p.V266A) - ZMYM2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1015C>T r.(?) p.(Gln339*) Unknown - likely pathogenic g.20577157C>T - ZMYM2(NM_001190965.1):c.1015C>T (p.(Gln339*)) - ZMYM2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1159A>G r.(?) p.(Ile387Val) Unknown - likely benign g.20579239A>G g.20005099A>G - - ZMYM2_000007 - PubMed: Connaughton 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CAKUT SSC2-21 PubMed: Connaughton 2020 - M - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.1192C>T r.(?) p.(Gln398*) Unknown - pathogenic (dominant) g.20579272C>T g.20005132C>T - - ZMYM2_000008 - PubMed: Connaughton 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM3-21 PubMed: Connaughton 2020 - M - United States - - - - - 1 Johan den Dunnen
+?/. - c.1299+1G>A r.spl? p.? Unknown - likely pathogenic g.20579380G>A - ZMYM2(NM_003453.6):c.1299+1G>A - ZMYM2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1351C>T r.(?) p.(His451Tyr) Paternal (confirmed) - likely benign g.20580565C>T g.20006425C>T - - ZMYM2_000009 - PubMed: Connaughton 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM16-21 PubMed: Connaughton 2020 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1367A>G r.(?) p.(Tyr456Cys) Unknown - VUS g.20580581A>G - ZMYM2(NM_003453.5):c.1367A>G (p.Y456C) - ZMYM2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.1367dup r.(?) p.(Tyr456*) Unknown - pathogenic (dominant) g.20580581dup g.20006441dup - - ZMYM2_000010 - PubMed: Connaughton 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM9-21 PubMed: Connaughton 2020 - F - - white - - - - 1 Johan den Dunnen
+?/. - c.1429A>T r.(?) p.(Lys477*) Unknown - likely pathogenic g.20580643A>T - ZMYM2(NM_001353162.3):c.1429A>T (p.K477*) - ZMYM2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1557G>A r.(?) p.(Met519Ile) Unknown - likely benign g.20593731G>A - ZMYM2(NM_003453.6):c.1557G>A (p.M519I) - ZMYM2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1607del r.(?) p.(Cys536Leufs*13) Unknown - pathogenic (dominant) g.20600774del g.20026634del - - ZMYM2_000011 - PubMed: Connaughton 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CAKUT SSC3-21 PubMed: Connaughton 2020 - F - Italy - - - - - 1 Johan den Dunnen
+?/. - c.1613del r.(?) p.(Gly538Valfs*11) Unknown - likely pathogenic g.20600780del - ZMYM2(NM_001353162.3):c.1613delG (p.G538Vfs*11) - ZMYM2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1618C>T r.(?) p.(Arg540*) Unknown - pathogenic (dominant) g.20600785C>T g.20026645C>T - - ZMYM2_000012 - PubMed: Connaughton 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CAKUT A4730-21 PubMed: Connaughton 2020 - M - Macedonia - - - - - 1 Johan den Dunnen
+/. 8 c.1618C>T r.(?) p.(Arg540*) Unknown - pathogenic (dominant) g.20600785C>T g.20026645C>T - - ZMYM2_000012 - PubMed: Connaughton 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CAKUT A1204-21 PubMed: Connaughton 2020 - F - Macedonia - - - - - 1 Johan den Dunnen
+/. 8 c.1623_1627del r.(?) p.(Cys543Valfs*3) Unknown - pathogenic (dominant) g.20600790_20600794del g.20026650_20026654del - - ZMYM2_000013 - PubMed: Connaughton 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM11-21 PubMed: Connaughton 2020 - M - Morocco - - - - - 1 Johan den Dunnen
-?/. - c.1654A>G r.(?) p.(Ile552Val) Unknown - likely benign g.20600821A>G g.20026681A>G - - ZMYM2_000014 - PubMed: Connaughton 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM15-21 PubMed: Connaughton 2020 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1726A>G r.(?) p.(Lys576Glu) Unknown - likely benign g.20600893A>G - ZMYM2(NM_003453.6):c.1726A>G (p.K576E) - ZMYM2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1852-762C>A r.(=) p.(=) Unknown - likely benign g.20604697C>A - ZMYM2(NM_197968.4):c.1852-762C>A - ZMYM2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1946A>G r.(?) p.(Lys649Arg) Unknown - likely benign g.20605553A>G g.20031413A>G - - ZMYM2_000015 - PubMed: Connaughton 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CAKUT A3928-21 PubMed: Connaughton 2020 - M - India - - - - - 1 Johan den Dunnen
+/. 12 c.2165T>A r.(?) p.(Leu722*) Maternal (confirmed) - pathogenic (dominant) g.20610922T>A g.20036782T>A - - ZMYM2_000016 - PubMed: Connaughton 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM17-21 PubMed: Connaughton 2020 - M - - white - - - - 1 Johan den Dunnen
?/. - c.2189G>A r.(?) p.(Cys730Tyr) Unknown - VUS g.20610946G>A - ZMYM2(NM_001190965.1):c.2189G>A (p.(Cys730Tyr)) - ZMYM2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2264G>A r.(?) p.(Cys755Tyr) Unknown - likely benign g.20611021G>A - ZMYM2(NM_197968.2):c.2264G>A (p.(Cys755Tyr)) - ZMYM2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2287T>C r.(?) p.(Tyr763His) Paternal (confirmed) - likely benign g.20611044T>C g.20036904T>C - - ZMYM2_000017 - PubMed: Connaughton 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CAKUT B1410-21 PubMed: Connaughton 2020 2 afected brothers M - Macedonia - - - - - 2 Johan den Dunnen
-?/. - c.2287_2288delinsCT r.(?) p.(Tyr763Leu) Unknown - likely benign g.20611044_20611045delinsCT g.20036904_20036905delinsCT - - ZMYM2_000018 - PubMed: Connaughton 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CAKUT A663-21 PubMed: Connaughton 2020 - F - Kuwait - - - - - 1 Johan den Dunnen
-?/. - c.2287_2288delinsCT r.(?) p.(Tyr763Leu) Unknown - likely benign g.20611044_20611045delinsCT g.20036904_20036905delinsCT - - ZMYM2_000018 - PubMed: Connaughton 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CAKUT A3135-21 PubMed: Connaughton 2020 - M - Kuwait - - - - - 1 Johan den Dunnen
+?/. - c.2309_2310del r.(?) p.(Cys770Leufs*2) Unknown - likely pathogenic g.20625589_20625590del - ZMYM2(NM_003453.6):c.2309_2310delGT (p.C770Lfs*2) - ZMYM2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2324G>A r.(?) p.(Gly775Glu) Unknown - likely benign g.20625604G>A g.20051464G>A - - ZMYM2_000019 - PubMed: Connaughton 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CAKUT B960-21 PubMed: Connaughton 2020 - F - - white - - - - 1 Johan den Dunnen
+/. 13 c.2338C>T r.(?) p.(Arg780*) Unknown - pathogenic (dominant) g.20625618C>T g.20051478C>T - - ZMYM2_000020 - PubMed: Connaughton 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM19-21 PubMed: Connaughton 2020 - M - Switzerland - - - - - 1 Johan den Dunnen
?/. - c.2392C>T r.(?) p.(Arg798Cys) Unknown - VUS g.20625672C>T - ZMYM2(NM_001190965.1):c.2392C>T (p.(Arg798Cys)) - ZMYM2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2399A>G r.(?) p.(Tyr800Cys) Unknown - VUS g.20625679A>G - ZMYM2(NM_197968.4):c.2399A>G (p.(Tyr800Cys)) - ZMYM2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.2434_2437del r.(?) p.(Lys812Aspfs*18) Unknown - pathogenic (dominant) g.20625714_20625717del g.20051574_20051577del - - ZMYM2_000001 - PubMed: Connaughton 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM6-21 PubMed: Connaughton 2020 2-generation family, 2 affected sisters F - - white - - - - 2 Johan den Dunnen
+/. 13 c.2434_2437del r.(?) p.(Lys812Aspfs*18) Unknown - pathogenic (dominant) g.20625714_20625717del g.20051574_20051577del - - ZMYM2_000001 - PubMed: Connaughton 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM6-22 PubMed: Connaughton 2020 sister F - - white - - - - 1 Johan den Dunnen
+?/. - c.2434_2437del r.(?) p.(Lys812AspfsTer18) Unknown - likely pathogenic g.20625714_20625717del - ZMYM2(NM_003453.6):c.2434_2437delAAAG (p.K812Dfs*18) - ZMYM2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.2479C>T r.(?) p.(Arg827*) Unknown ACMG pathogenic g.20626437C>T g.20052297C>T - - ZMYM2_000053 - - ClinVar-2429606 - De novo - - - - - DNA SEQ-NG-I peripheral blood WES ID - - - F - - (not applicable) - - - - - 1 Marketa Wayhelova
-?/. - c.2493A>G r.(?) p.(Thr831=) Unknown - likely benign g.20626451A>G - ZMYM2(NM_001353162.1):c.2493A>G (p.T831=) - ZMYM2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2494-4A>G r.spl? p.? Unknown - likely benign g.20632711A>G - ZMYM2(NM_197968.4):c.2494-4A>G - ZMYM2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14i c.2494-1G>A r.spl p.? Maternal (confirmed) - pathogenic (dominant) g.20632714G>A g.20058574G>A - - ZMYM2_000021 - PubMed: Connaughton 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM18-12 PubMed: Connaughton 2020 2-generation family, 3 affected (mother/daughter/son), daughter F - - white - - - - 3 Johan den Dunnen
+/. 14i c.2494-1G>A r.spl p.? Maternal (confirmed) - pathogenic (dominant) g.20632714G>A g.20058574G>A - - ZMYM2_000021 - PubMed: Connaughton 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM18-22 PubMed: Connaughton 2020 brother M - - white - - - - 1 Johan den Dunnen
+/. 14i c.2494-1G>A r.spl p.? Unknown - pathogenic (dominant) g.20632714G>A g.20058574G>A - - ZMYM2_000021 - PubMed: Connaughton 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM18-21 PubMed: Connaughton 2020 mother F - - white - - - - 1 Johan den Dunnen
?/. - c.2569A>G r.(?) p.(Met857Val) Unknown - VUS g.20632790A>G - ZMYM2(NM_197968.4):c.2569A>G (p.(Met857Val)) - ZMYM2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2569del r.(?) p.(Met857Ter) Unknown - VUS g.20632790del - ZMYM2(NM_001353162.2):c.2569delA (p.M857*) - ZMYM2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2602C>T r.(?) p.(Gln868*) Unknown - pathogenic g.20632823C>T - - - ZMYM2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2700C>G r.(?) p.(Tyr900*) Unknown ACMG pathogenic (dominant) g.20633663C>G g.20059523C>G - - ZMYM2_000030 ACMG PVS1, PS2_MOD, PM2_SUP; confirmed de novo in trio-exome - - - De novo - - - - - DNA SEQ-NG-I - - NDD 195735 - - M no Germany - - - - - 1 Andreas Laner
+?/. - c.2704C>T r.(?) p.(Gln902*) Unknown - likely pathogenic g.20633667C>T - - - ZMYM2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2821G>A r.(?) p.(Val941Ile) Unknown - likely benign g.20635274G>A - ZMYM2(NM_197968.2):c.2821G>A (p.(Val941Ile)) - ZMYM2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2836C>G r.(?) p.(Leu946Val) Unknown - VUS g.20635289C>G - ZMYM2(NM_003453.6):c.2836C>G (p.L946V) - ZMYM2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2911+10A>G r.(=) p.(=) Unknown - likely benign g.20635374A>G - ZMYM2(NM_003453.5):c.2911+10A>G - ZMYM2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2990_2992del r.(?) p.(Asp997del) Unknown - likely benign g.20637064_20637066del g.20062924_20062926del - - ZMYM2_000023 - PubMed: Connaughton 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CAKUT SSC4-21 PubMed: Connaughton 2020 - M - Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.2997A>G r.(?) p.(=) Unknown - likely benign g.20637071A>G - ZMYM2(NM_003453.5):c.2997A>G (p.P999=) - ZMYM2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3091G>A r.(?) p.(Glu1031Lys) Unknown - likely benign g.20638644G>A g.20064504G>A - - ZMYM2_000024 - PubMed: Connaughton 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CAKUT SSC5-21 PubMed: Connaughton 2020 - F - Macedonia - - - - - 1 Johan den Dunnen
+/. - c.3124A>T r.(?) p.(Lys1042*) Unknown - pathogenic g.20638677A>T - - - ZMYM2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 19 c.3130_3131dup r.(?) p.(Gly1045Argfs*33) Unknown - pathogenic (dominant) g.20638683_20638684dup g.20064543_20064544dup - - ZMYM2_000025 - PubMed: Connaughton 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM7-21 PubMed: Connaughton 2020 - F - - white - - - - 1 Johan den Dunnen
+/. 20 c.3176dup r.(?) p.(Asp1059Glufs*2) Unknown - pathogenic (dominant) g.20641034dup g.20066894dup - - ZMYM2_000026 - PubMed: Connaughton 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM13-21 PubMed: Connaughton 2020 - F - - white - - - - 1 Johan den Dunnen
+/. 20 c.3246G>A r.(?) p.(Trp1082*) Maternal (confirmed) - pathogenic (dominant) g.20641104G>A g.20066964G>A - - ZMYM2_000027 - PubMed: Connaughton 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM12-21 PubMed: Connaughton 2020 2-generation family, 2 affected (mother/son), son M - - white - - - - 2 Johan den Dunnen
+/. 20 c.3246G>A r.(?) p.(Trp1082*) Unknown - pathogenic (dominant) g.20641104G>A g.20066964G>A - - ZMYM2_000027 - PubMed: Connaughton 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CAKUT GM12-12 PubMed: Connaughton 2020 mother F - - white - - - - 1 Johan den Dunnen
+?/. 21 c.3388C>T r.(?) p.(Arg1130*) Unknown ACMG pathogenic (dominant) g.20641465C>T g.20067325C>T - - ZMYM2_000062 ACMG: PVS1, PS2_SUP, PS4_SUP - VCV001701908.2 - De novo - - - - - DNA SEQ-NG-I Blood - NECRC 214565 - - F no Italy - - - - - 1 Andreas Laner
?/. - c.3436del r.(?) p.(Cys1146Alafs*30) Unknown - VUS g.20641513del - ZMYM2(NM_001353162.1):c.3436delT (p.C1146Afs*30), ZMYM2(NM_003453.4):c.3436delT (p.C1146Afs*30) - ZMYM2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3454-4A>T r.spl? p.? Unknown - likely benign g.20656152A>T - ZMYM2(NM_197968.4):c.3454-4A>T - ZMYM2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3536T>A r.(?) p.(Leu1179Gln) Unknown - VUS g.20656238T>A - ZMYM2(NM_003453.6):c.3536T>A (p.L1179Q) - ZMYM2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3538C>T r.(?) p.(Arg1180*) Unknown - likely pathogenic g.20656240C>T - ZMYM2(NM_197968.2):c.3538C>T (p.(Arg1180*)) - ZMYM2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3767del r.(?) p.(Asn1256Thrfs*49) Unknown - likely pathogenic g.20657119del - ZMYM2(NM_001353162.3):c.3767delA (p.N1256Tfs*49) - ZMYM2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3781C>T r.(?) p.(Arg1261Ter) Unknown - likely pathogenic g.20657133C>T g.20082993C>T ZMYM2(NM_001353162.1):c.3781C>T (p.R1261*) - ZMYM2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3781C>T r.(?) p.(Arg1261Ter) Unknown - likely pathogenic g.20657133C>T - ZMYM2(NM_001353162.1):c.3781C>T (p.R1261*) - ZMYM2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3820+295G>A r.(=) p.(=) Unknown - likely benign g.20657467G>A - ZMYM2(NM_197968.4):c.3820+295G>A - ZMYM2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3988_3995del r.(?) p.(Glu1330Ter) Unknown - VUS g.20660008_20660015del - ZMYM2(NM_001353162.1):c.3988_3995delGAATGCTC (p.E1330*) - ZMYM2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3994T>C r.(?) p.(Ser1332Pro) Unknown - likely benign g.20660014T>C - ZMYM2(NM_001190965.1):c.3994T>C (p.(Ser1332Pro)) - ZMYM2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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