Full data view for gene ZMYM3

Information The variants shown are described using the NM_201599.2 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Consanguinity     

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Age at death     

VIP     

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Owner     
-/. - c.143C>G r.(?) p.(Pro48Arg) Unknown - benign g.70472963G>C g.71253113G>C ZMYM3(NM_001171162.1):c.143C>G (p.P48R) - ZMYM3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.205G>A r.(?) p.(Asp69Asn) Maternal (confirmed) - likely pathogenic g.70472901C>T g.71253051C>T - - ZMYM3_000047 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - panel NDD Fam1 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - 1 Johan den Dunnen
-?/. - c.373C>T r.(?) p.(Pro125Ser) Unknown - likely benign g.70472733G>A g.71252883G>A ZMYM3(NM_001171162.1):c.373C>T (p.P125S) - ZMYM3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.507A>T r.(?) p.(Arg169Ser) Unknown - likely pathogenic g.70472599T>A g.71252749T>A - - ZMYM3_000049 - PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel NDD Pat21 PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.526G>A r.(?) p.(Glu176Lys) Unknown - likely benign g.70472580C>T - ZMYM3(NM_001171162.1):c.526G>A (p.E176K) - ZMYM3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.569C>T r.(?) p.(Pro190Leu) Unknown - VUS g.70472537G>A g.71252687G>A ZMYM3(NM_001171162.1):c.569C>T (p.P190L) - ZMYM3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.671_674dup r.(?) p.(Leu226TrpfsTer8) Maternal (confirmed) - likely pathogenic g.70471446_70471449dup g.71251596_71251599dup 671_674dupATGG - ZMYM3_000046 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - skewed X-inactivation DNA SEQ, SEQ-NG - WES NDD Fam18 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected carrier mother F - - - - - - - 1 Johan den Dunnen
-?/. - c.711+7G>A r.(=) p.(=) Unknown - likely benign g.70471401C>T g.71251551C>T ZMYM3(NM_001171162.1):c.711+7G>A (p.(=)), ZMYM3(NM_201599.3):c.711+7G>A - ZMYM3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.711+7G>A r.(=) p.(=) Unknown - likely benign g.70471401C>T - ZMYM3(NM_001171162.1):c.711+7G>A (p.(=)), ZMYM3(NM_201599.3):c.711+7G>A - ZMYM3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.721G>A r.(?) p.(Glu241Lys) Maternal (confirmed) - likely pathogenic g.70471085C>T g.71251235C>T - - ZMYM3_000045 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - - DNA arrayCGH, SEQ, SEQ-NG - WES NDD Fam2 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, carrier mother history of learning disability M - - - - - - - 1 Johan den Dunnen
?/. - c.766T>G r.(?) p.(Ser256Ala) Unknown - VUS g.70471040A>C g.71251190A>C ZMYM3(NM_001171162.1):c.766T>G (p.S256A) - ZMYM3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.905G>A r.(?) p.(Arg302His) Maternal (confirmed) - likely pathogenic g.70470450C>T g.71250600C>T - - ZMYM3_000044 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - - DNA arrayCGH, SEQ, SEQ-NG - WES NDD Fam3 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - 1 Johan den Dunnen
+/. - c.1183C>A r.(?) p.(Arg395Ser) Maternal (confirmed) - likely pathogenic g.70469944G>T g.71250094G>T - - ZMYM3_000043 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4PatA Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 2 affected brothers, unaffected carrier mother M - - - - - - - 2 Johan den Dunnen
+/. - c.1183C>A r.(?) p.(Arg395Ser) Maternal (confirmed) - likely pathogenic g.70469944G>T g.71250094G>T - - ZMYM3_000043 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4PatB Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 brother M - - - - - - - 1 Johan den Dunnen
+/. - c.1192C>T r.(?) p.(Pro398Ser) Maternal (confirmed) - likely pathogenic g.70469935G>A g.71250085G>A - - ZMYM3_000042 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - panel NDD Fam5 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - 1 Johan den Dunnen
-?/. - c.1224C>T r.(?) p.(Arg408=) Unknown - likely benign g.70469903G>A - ZMYM3(NM_001171162.1):c.1224C>T (p.R408=) - ZMYM3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1279G>A r.(?) p.(Val427Met) Unknown - VUS g.70469502C>T - ZMYM3(NM_201599.3):c.1279G>A (p.(Val427Met)) - ZMYM3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1321C>T r.(?) p.(Arg441Trp) Maternal (confirmed) - pathogenic (recessive) g.70469460G>A - - - ZMYM3_000031 - PubMed: Philips 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - X-WES ID FamD222 PubMed: Philips 2014 3-generation family, 3 affected (3M), unaffected heterozygous carrier mother M - Finland - - - - - 3 Johan den Dunnen
+?/. - c.1321C>T r.(?) p.(Arg441Trp) Unknown - likely pathogenic g.70469460G>A g.71249610G>A - - ZMYM3_000031 - PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat22 PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 2 affected (sister/brother), unaffected parents M - - - - - - - 2 Johan den Dunnen
?/. - c.1322G>A r.(?) p.(Arg441Gln) Unknown - VUS g.70469459C>T g.71249609C>T ZMYM3(NM_001171162.1):c.1322G>A (p.R441Q) - ZMYM3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1322G>A r.(?) p.(Arg441Gln) Maternal (confirmed) - likely pathogenic g.70469459C>T g.71249609C>T - - ZMYM3_000026 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam6 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, carrier mother attention deficit-hyperactivity disorder M - - - - - - - 1 Johan den Dunnen
+/. - c.1322G>A r.(?) p.(Arg441Gln) Maternal (confirmed) - likely pathogenic g.70469459C>T g.71249609C>T - - ZMYM3_000026 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MPS4A, NDD Fam7 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - 1 Johan den Dunnen
+/. - c.1322G>A r.(?) p.(Arg441Gln) Maternal (confirmed) - likely pathogenic g.70469459C>T g.71249609C>T - - ZMYM3_000026 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam8 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, carrier mother history of learning disability M - - - - - - - 1 Johan den Dunnen
+/. - c.1360T>C r.(?) p.(Cys454Arg) Unknown - likely pathogenic g.70469421A>G g.71249571A>G - - ZMYM3_000050 - PubMed: Hiatt 2023, Journal: Hiatt 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat23 PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.1460C>T r.(?) p.(Ala487Val) Unknown - VUS g.70469321G>A g.71249471G>A ZMYM3(NM_001171162.1):c.1460C>T (p.(Ala487Val)) - ZMYM3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1470+129C>T r.(=) p.(=) Maternal (inferred) - VUS g.70469182G>A g.71249332G>A - - ZMYM3_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1470+129C>T r.(=) p.(=) Maternal (inferred) - VUS g.70469182G>A g.71249332G>A - - ZMYM3_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.1718G>A r.(?) p.(Ser573Asn) Unknown - likely benign g.70468555C>T g.71248705C>T ZMYM3(NM_001171162.1):c.1718G>A (p.S573N) - ZMYM3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1718G>A r.(?) p.(Ser573Asn) Unknown - likely benign g.70468555C>T g.71248705C>T ZMYM3(NM_001171162.1):c.1718G>A (p.S573N) - ZMYM3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1721G>T r.(?) p.(Cys574Phe) Unknown - VUS g.70468552C>A g.71248702C>A ZMYM3(NM_001171162.1):c.1721G>T (p.C574F) - ZMYM3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2018G>A r.(?) p.(Gly673Asp) Unknown - likely pathogenic g.70467714C>T g.71247864C>T - - ZMYM3_000028 - PubMed: Connaughton 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CAKUT B1287-21 PubMed: Connaughton 2020 - M - - - - - - - 1 Johan den Dunnen
?/. - c.2063G>A r.(?) p.(Arg688His) Unknown - VUS g.70467669C>T g.71247819C>T ZMYM3(NM_001171162.1):c.2063G>A (p.R688H), ZMYM3(NM_201599.2):c.2063G>A (p.(Arg688His)) - ZMYM3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2063G>A r.(?) p.(Arg688His) Unknown - VUS g.70467669C>T g.71247819C>T ZMYM3(NM_001171162.1):c.2063G>A (p.R688H), ZMYM3(NM_201599.2):c.2063G>A (p.(Arg688His)) - ZMYM3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2193G>C r.(?) p.(Glu731Asp) Maternal (confirmed) - likely pathogenic g.70467316C>G g.71247466C>G - - ZMYM3_000041 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam9PatA Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 2 affected brothers, unaffected carrier mother M yes - - - - - - 2 Johan den Dunnen
+/. - c.2193G>C r.(?) p.(Glu731Asp) Maternal (confirmed) - likely pathogenic g.70467316C>G g.71247466C>G - - ZMYM3_000041 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam9PatB Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 brother M yes - - - - - - 1 Johan den Dunnen
+/. - c.2255A>G r.(?) p.(Tyr752Cys) Unknown - likely pathogenic g.70467254T>C g.71247404T>C - - ZMYM3_000040 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - panel NDD Fam19 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.2444C>A r.(?) p.(Ala815Asp) Unknown - VUS g.70466331G>T - ZMYM3(NM_001171162.1):c.2408C>A (p.A803D) - ZMYM3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2596G>A r.(?) p.(Val866Met) Unknown - likely pathogenic g.70465925C>T g.71246075C>T - - ZMYM3_000027 - PubMed: Connaughton 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CAKUT B2323-21 PubMed: Connaughton 2020 - M - - - - - - - 1 Johan den Dunnen
?/. - c.2684C>T r.(?) p.(Pro895Leu) Unknown - VUS g.70465837G>A g.71245987G>A - - ZMYM3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2794A>G r.(?) p.(Ile932Val) Maternal (confirmed) - likely pathogenic g.70465584T>C g.71245734T>C - - ZMYM3_000039 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam10 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, carrier mother history of dyslexia M - - - - - - - 1 Johan den Dunnen
-?/. - c.2892C>T r.(?) p.(Leu964=) Unknown - likely benign g.70465304G>A g.71245454G>A ZMYM3(NM_001171162.1):c.2856C>T (p.L952=) - ZMYM3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3007+188_3007+189del r.(=) p.(=) Unknown - VUS g.70465000_70465001del g.71245150_71245151del - - ZMYM3_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.3122G>A r.(?) p.(Arg1041Gln) Unknown - VUS g.70464310C>T - ZMYM3(NM_201599.3):c.3122G>A (p.R1041Q) - ZMYM3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3371G>A r.(?) p.(Arg1124Gln) Maternal (confirmed) - likely pathogenic g.70463740C>T g.71243890C>T - - ZMYM3_000038 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS NDD Fam11 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - 1 Johan den Dunnen
+/. - c.3409T>A r.(?) p.(Tyr1137Asn) Maternal (confirmed) - likely pathogenic g.70463702A>T g.71243852A>T - - ZMYM3_000037 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam12 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - 1 Johan den Dunnen
+/. - c.3518G>A r.(?) p.(Ser1173Asn) Maternal (confirmed) - likely pathogenic g.70462849C>T g.71242999C>T - - ZMYM3_000051 - PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - - NDD Pat24 PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 2 affected, boy and affected carrier mother M - - - - - - - 2 Johan den Dunnen
+/. - c.3605T>A r.(?) p.(Val1202Asp) Unknown - likely pathogenic g.70462217A>T g.71242367A>T - - ZMYM3_000036 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Fam13 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.3638T>C r.(?) p.(Met1213Thr) Unknown - likely pathogenic g.70462184A>G g.71242334A>G - - ZMYM3_000035 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - panel NDD Fam14 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
+/. - c.3820C>T r.(?) p.(Arg1274Trp) Unknown - likely pathogenic g.70461177G>A g.71241327G>A - - ZMYM3_000034 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - panel NDD Fam15 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.3880C>T r.(?) p.(Arg1294Cys) Unknown - likely pathogenic g.70461117G>A g.71241267G>A - - ZMYM3_000033 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES/WGS NDD Fam16 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.3880C>T r.(?) p.(Arg1294Cys) Unknown - likely pathogenic g.70461117G>A g.71241267G>A - - ZMYM3_000033 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - De novo - - - - skewed X-inactivation DNA SEQ, SEQ-NG - WES NDD Fam20 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.3934C>T r.(?) p.(Arg1312Trp) Unknown - VUS g.70460945G>A - ZMYM3(NM_201599.3):c.3934C>T (p.R1312W) - ZMYM3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3945C>T r.(?) p.(Asn1315=) Parent #1 - likely benign g.70460934G>A g.71241084G>A N1315N - ZMYM3_000018 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
+/. - c.3970C>T r.(?) p.(Arg1324Trp) Maternal (confirmed) - likely pathogenic g.70460909G>A g.71241059G>A - - ZMYM3_000052 - PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat25 PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - 1 Johan den Dunnen
+/. - c.4029G>A r.(?) p.(Met1343Ile) Maternal (confirmed) - likely pathogenic g.70460850C>T g.71241000C>T - - ZMYM3_000032 - Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam17 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - 1 Johan den Dunnen
-?/. - c.4065C>T r.(?) p.(Arg1355=) Parent #1 - likely benign g.70460814G>A g.71240964G>A R1355R - ZMYM3_000017 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
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