Full data view for gene RNU4ATAC

Information The variants shown are described using the NR_023343.1 transcript reference sequence.

112 entries on 2 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     
+/. - n.5A>C r.(5a>c) - Parent #2 - pathogenic (recessive) g.122288460A>C g.121530884A>C - - RNU4ATAC_000025 - PubMed: Farach 2018 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - LWS 29265708-Pat1 PubMed: Farach 2018 adopted child F - - - - 0 - - 1 Johan den Dunnen
?/. - n.5A>G r.(?) - Unknown - VUS g.122288460A>G g.121530884A>G RNU4ATAC(NR_023343.1):n.5A>G - CLASP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.7C>T r.(?) - Unknown - VUS g.122288462C>T g.121530886C>T RNU4ATAC(NR_023343.1):n.7C>T - CLASP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - n.8C>A r.(8c>a) - Paternal (confirmed) - pathogenic (recessive) g.122288463C>A g.121530887C>A - - RNU4ATAC_000029 - PubMed: Shelihan 2018 - - Germline - - - 0 - DNA SEQ - - LWS 30368667-Pat1 PubMed: Shelihan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Italy - - 0 - - 1 Johan den Dunnen
+/. - n.8C>T r.(8c>u) - Maternal (confirmed) - pathogenic (recessive) g.122288463C>T g.121530887C>T - - RNU4ATAC_000013 - PubMed: Merico 2015 - - Germline - - - 0 - DNA SEQ - - RFMN 26522830-FamK4 PubMed: Merico 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Albania - - 0 - - 1 Johan den Dunnen
+?/. - n.8C>T r.(?) - Unknown - likely pathogenic g.122288463C>T g.121530887C>T RNU4ATAC(NR_023343.1):n.8C>T - RNU4ATAC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - n.13C>G r.(13c>ug) - Parent #1 - pathogenic (recessive) g.122288468C>G g.121530892C>G - - RNU4ATAC_000021 - PubMed: Lionel 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WGS ? 28771251-Pat5 PubMed: Lionel 2018 - M no Canada - - 0 - - 1 Johan den Dunnen
+/. - n.13C>T r.(13c>u) - Paternal (confirmed) ACMG pathogenic g.122288468C>T g.121530892C>T - - RNU4ATAC_000001 - - - - Germline ? - - 0 - DNA SEQ-NG-I EDTA blood - RFMN 109859 - - F no Germany - - 0 - - 1 Andreas Laner
+/. - n.13C>T r.(13c>u) - Paternal (confirmed) - pathogenic (recessive) g.122288468C>T g.121530892C>T - - RNU4ATAC_000001 - PubMed: Merico 2015 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WGS RFMN 26522830-FamK1 PubMed: Merico 2015 2-generation family, affected brothers, unaffected heterozygous carrier parents/relatives M no United Kingdom (Great Britain) - - 0 - - 2 Johan den Dunnen
+/. - n.13C>T r.(13c>u) - Paternal (confirmed) - pathogenic (recessive) g.122288468C>T g.121530892C>T - - RNU4ATAC_000001 - PubMed: Merico 2015 - - Germline - - - 0 - DNA SEQ - - RFMN 26522830-FamK2 PubMed: Merico 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - 0 - - 1 Johan den Dunnen
+/. - n.13C>T r.(13c>u) - Paternal (confirmed) - pathogenic (recessive) g.122288468C>T g.121530892C>T - - RNU4ATAC_000001 - PubMed: Bogaert 2017 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES MOPD 28623346-Fam2PatII1/2 PubMed: Bogaert 2017 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M no Belgium - - 0 - - 2 Johan den Dunnen
+/. - n.13C>T r.(13c>u) - Paternal (confirmed) - pathogenic (recessive) g.122288468C>T g.121530892C>T - - RNU4ATAC_000001 - PubMed: Hallermayr 2018 - - Germline - - - 0 - DNA SEQ - - MOPD 30455926-Pat1 PubMed: Hallermayr 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany - - 0 - - 1 Johan den Dunnen
+/. - n.13C>T r.(?) - Unknown - pathogenic g.122288468C>T g.121530892C>T RNU4ATAC(NR_023343.1):n.13C>T - RNU4ATAC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - n.13C>T r.(?) - Parent #1 - likely pathogenic (recessive) g.122288468C>T g.121530892C>T NR_023343.1:n.13C>T - RNU4ATAC_000001 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 10DG0295 , 10DG0296, 10DG0297 PubMed: Maddirevula 2018 family, 3 affected (F, 2M) F;M yes - Arab - 0 - - 3 LOVD
+/. - n.16G>A r.(?) - Maternal (confirmed) - pathogenic (recessive) g.122288471G>A g.121530895G>A - - RNU4ATAC_000011 - PubMed: Merico 2015 - - Germline yes - - 0 - DNA SEQ - - RFMN 26522830-FamK3 PubMed: Merico 2015 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Lebanon - - 0 - - 2 Johan den Dunnen
+/. - n.16G>A r.(16g>a) - Both (homozygous) - pathogenic (recessive) g.122288471G>A g.121530895G>A - - RNU4ATAC_000011 - PubMed: Dinur Schejter 2018 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MOPD 29263834-FamK1PatIII3 PubMed: Dinur Schejter 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Pakistan - - 0 - - 1 Johan den Dunnen
+/. - n.16G>A r.(?) - Unknown - pathogenic g.122288471G>A g.121530895G>A RNU4ATAC(NR_023343.1):n.16G>A - RNU4ATAC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - n.17G>A r.(17g>a) - Maternal (confirmed) - pathogenic (recessive) g.122288472G>A g.121530896G>A - - RNU4ATAC_000024 - PubMed: Dinur Schejter 2018 - - Germline - - - 0 - DNA SEQ - - MOPD 29263834-FamK2PatII1 PubMed: Dinur Schejter 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no India Tamil - 0 - - 1 Johan den Dunnen
+/. - n.17_101dup r.? - Parent #2 - pathogenic g.122288472_122288556dup g.121530896_121530980dup 16-100 dup - RNU4ATAC_000019 - PubMed: Kroigard 2016 - - Germline yes - - 0 - DNA SEQ - - ? 26641461-FamPat1/2 PubMed: Kroigard 2016, PubMed: Kroigard 2016 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no New Zealand - - 0 - - 2 Johan den Dunnen
?/. - n.23C>T r.(?) - Unknown - VUS g.122288478C>T g.121530902C>T RNU4ATAC(NR_023343.1):n.23C>T - CLASP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.25C>T r.(?) - Unknown - VUS g.122288480C>T g.121530904C>T RNU4ATAC(NR_023343.1):n.25C>T - CLASP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - n.29T>A r.(29u>a) - Parent #2 - pathogenic (recessive) g.122288484T>A g.121530908T>A - - RNU4ATAC_000027 - PubMed: Wang 2018 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES, RNU4ATAC microcephaly 29370840-FamFet1/2 PubMed: Wang 2018 2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents - no China north - 0 - - 1 Johan den Dunnen
+/. - n.29T>C r.(29u>c - Parent #2 - pathogenic (recessive) g.122288484T>C g.121530908T>C - - RNU4ATAC_000022 - PubMed: Lionel 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WGS ? 28771251-Pat5 PubMed: Lionel 2018 - M no Canada - - 0 - - 1 Johan den Dunnen
+/. - n.30G>A r.(?) - Parent #1 - pathogenic (recessive) g.122288485G>A g.121530909G>A - - RNU4ATAC_000003 - PubMed: He 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474760-FamPat10 PubMed: He 2011 unaffected heterozygous carrier parents - - Germany - - 0 - - 1 Johan den Dunnen
+/. - n.30G>A r.(30g>a) - Parent #1 - pathogenic (recessive) g.122288510G>A - - - RNU4ATAC_000016 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat17 PubMed: Nagy 2012,Klinge 2002 - M - Germany - >12y9m 0 - - 1 Johan den Dunnen
?/. - n.33C>G r.(?) - Unknown - VUS g.122288488C>G g.121530912C>G - - CLASP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.33C>T r.(?) - Unknown - VUS g.122288488C>T g.121530912C>T RNU4ATAC(NR_023343.1):n.33C>T - CLASP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - n.37G>A r.(?) - Maternal (confirmed) - pathogenic (recessive) g.122288492G>A g.121530916G>A - - RNU4ATAC_000009 - PubMed: Merico 2015 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WGS RFMN 26522830-FamK1 PubMed: Merico 2015 2-generation family, affected brothers, unaffected heterozygous carrier parents/relatives M no United Kingdom (Great Britain) - - 0 - - 2 Johan den Dunnen
+/. - n.40C>T r.(40c>u) - Parent #1 - pathogenic (recessive) g.122288495C>T g.121530919C>T - - RNU4ATAC_000018 - PubMed: Kroigard 2016 - - Germline yes - - 0 - DNA SEQ - - ? 26641461-FamPat1/2 PubMed: Kroigard 2016, PubMed: Kroigard 2016 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no New Zealand - - 0 - - 2 Johan den Dunnen
+/. - n.40C>T r.(40c>u) - Parent #1 - pathogenic (recessive) g.122288495C>T g.121530919C>T - - RNU4ATAC_000018 - PubMed: Putoux 2016 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Fet3/4 PubMed: Putoux 2016 2-generation family, affected twin fetuses, unaffected heterozygous carrier parents - - France - - 0 - - 2 Johan den Dunnen
?/. - n.41G>A r.(?) - Unknown - VUS g.122288496G>A g.121530920G>A RNU4ATAC(NR_023343.1):n.41G>A - CLASP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.42C>T r.(?) - Unknown - VUS g.122288497C>T g.121530921C>T RNU4ATAC(NR_023343.1):n.42C>T - CLASP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - n.46G>A r.(46g>a) - Both (homozygous) - pathogenic (recessive) g.122288501G>A g.121530925G>A - - RNU4ATAC_000017 - PubMed: Kilic 2015 - - Germline - - - 0 - DNA SEQ - - MOPD 25735804-Fam1Pat1 PubMed: Kilic 2015 - M yes Turkey - >03y 0 - - 1 Johan den Dunnen
+/. - n.46G>A r.(46g>a) - Parent #2 ACMG pathogenic g.122288501G>A g.121530925G>A - - RNU4ATAC_000017 ACMG criteria PS4, PM2, PM3, PP1, PP4 PubMed: Farach 2018 - - Germline yes - - 0 - DNA SEQ - - LWS 29265708-FamPat2/3 PubMed: Farach 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M no - - - 0 - - 2 Johan den Dunnen
+/. - n.46G>A r.(?) - Parent #2 - likely pathogenic (recessive) g.122288501G>A g.121530925G>A NR_023343.1:n.46G>A - RNU4ATAC_000017 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 10DG0295 , 10DG0296, 10DG0297 PubMed: Maddirevula 2018 family, 3 affected (F, 2M) F;M yes - Arab - 0 - - 3 LOVD
+?/. - n.46G>A r.(?) - Unknown - likely pathogenic g.122288501G>A - RNU4ATAC(NR_023343.1):n.46G>A - RNU4ATAC_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - n.48G>A r.(48g>a) - Maternal (confirmed) - pathogenic (recessive) g.122288503G>A g.121530927G>A - - RNU4ATAC_000010 - PubMed: Merico 2015 - - Germline - - - 0 - DNA SEQ - - RFMN 26522830-FamK2 PubMed: Merico 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - 0 - - 1 Johan den Dunnen
+/. - n.50G>A r.(50g>a) - Parent #2 - pathogenic (recessive) g.122288505G>A g.121530929G>A - - RNU4ATAC_000006 - PubMed: Edery 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474761-Fam6 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States white - 0 - - 1 Johan den Dunnen
+?/. - n.50G>A r.(?) - Unknown - likely pathogenic g.122288505G>A g.121530929G>A RNU4ATAC(NR_023343.1):n.50G>A - RNU4ATAC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - n.50G>C r.(50g>c) - Parent #2 - pathogenic (recessive) g.122288505G>C g.121530929G>C - - RNU4ATAC_000007 - PubMed: Edery 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474761-Fam7 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: He 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474760-Fam1 PubMed: He 2011 7-generation family, 3 affected (6F), unaffected heterozygous carrier parents/relatives (linked to Fam2) F yes United States Amish, Ohio - 0 - - 3 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: He 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474760-Fam2 PubMed: He 2011 7-generation family, 3 affected (6F), unaffected heterozygous carrier parents/relatives (linked to Fam1) F yes United States Amish, Ohio - 0 - - 3 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: He 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474760-Fam3 PubMed: He 2011 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M yes United States Amish, Ohio - 0 - - 2 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: He 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474760-Fam4 PubMed: He 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Amish, Ohio - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: He 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474760-Fam5 PubMed: He 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States Amish, Ohio - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: He 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474760-Fam6 PubMed: He 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United States Amish, Ohio - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: He 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474760-Fam7 PubMed: He 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United States Amish, Ohio - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: He 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474760-FamPat8 PubMed: He 2011 unaffected heterozygous carrier parents - - Australia - - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Edery 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474761-Fam1 PubMed: Edery 2011 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Algeria - - 0 - - 2 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Edery 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474761-Fam2 PubMed: Edery 2011 3-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Edery 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474761-Fam3 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Morocco - - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Edery 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474761-Fam4 PubMed: Edery 2011 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Morocco - - 0 - - 2 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Edery 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474761-Fam5 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - India - - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Parent #1 - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Edery 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474761-Fam6 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States white - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Parent #1 - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Edery 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474761-Fam7 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Parent #1 - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Edery 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474761-Fam8 PubMed: Edery 2011 2-generation family, 1 affected fetus, unaffected heterozygous carrier parents F - Norway - - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Paternal (confirmed) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Merico 2015 - - Germline yes - - 0 - DNA SEQ - - RFMN 26522830-FamK3 PubMed: Merico 2015 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Lebanon - - 0 - - 2 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat1 PubMed: Nagy 2012 - F - United States Amish 1y6m 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat2 PubMed: Nagy 2012 - F - United States Amish 3m15d 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat3 PubMed: Nagy 2012 - F - United States Amish 2m23d 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat4 PubMed: Nagy 2012 - F - United States Amish 10m 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat5 PubMed: Nagy 2012 - M - United States Amish 9m15d 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat6 PubMed: Nagy 2012 - F - United States Amish - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat7 PubMed: Nagy 2012 - - - United States Amish - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat8 PubMed: Nagy 2012 - - - United States Amish - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat9 PubMed: Nagy 2012 - M - United States Amish 10m 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat10 PubMed: Nagy 2012 - F - United States Amish 10m 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat11 PubMed: Nagy 2012 - F - United States Amish 4m15d 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat12 PubMed: Nagy 2012 - F - United States Amish 8m15d 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat13 PubMed: Nagy 2012 - F - United States Amish >1y 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat14 PubMed: Nagy 2012 - F - United States Amish 8m15d 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat15 PubMed: Nagy 2012, Haan 1989 - M - Malta - 1m 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Abdel-Salam 2013 - - Germline - - - 0 - DNA SEQ - - MOPD 23794361-Fam2Pat3 PubMed: Abdel-Salam 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Abdel-Salam 2013 - - Germline yes - - 0 - DNA SEQ - - MOPD 23794361-Fam3Pat4/5 PubMed: Abdel-Salam 2013 2-generation family, affected sisters, unaffected heterozygous carrier parents F yes Egypt - - 0 - - 2 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Parent #1 - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Putoux 2016 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat1 PubMed: Putoux 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - India - - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Putoux 2016 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat2 PubMed: Putoux 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Malta - - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Putoux 2016 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat3 PubMed: Putoux 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Turkey - - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Putoux 2016 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat4 PubMed: Putoux 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Rwanda - - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Putoux 2016 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Fet1 PubMed: Putoux 2016 2-generation family, affected fetus, unaffected heterozygous carrier parents - - France - - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Parent #1 - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Putoux 2016 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Fet2 PubMed: Putoux 2016 2-generation family, affected fetus, unaffected heterozygous carrier parents - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Ferrell 2016 - - Germline - - - 0 - DNA SEQ - - MOPD 27312855-FamPat PubMed: Ferrell 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United States - - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Parent #1 - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Farach 2018 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - LWS 29265708-Pat1 PubMed: Farach 2018 adopted child F - - - - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Parent #1 - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Wang 2018 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES, RNU4ATAC microcephaly 29370840-FamFet1/2 PubMed: Wang 2018 2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents - no China north - 0 - - 1 Johan den Dunnen
+/. - n.51G>A r.(?) - Unknown - pathogenic g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - n.53C>G r.(53c>g) - Parent #2 - pathogenic (recessive) g.122288508C>G g.121530932C>G - - RNU4ATAC_000008 - PubMed: Edery 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474761-Fam8 PubMed: Edery 2011 2-generation family, 1 affected fetus, unaffected heterozygous carrier parents F - Norway - - 0 - - 1 Johan den Dunnen
+/. - n.53C>G r.(53c>g) - Parent #2 - pathogenic (recessive) g.122288508C>G g.121530932C>G - - RNU4ATAC_000008 - PubMed: Edery 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474761-Fam8 PubMed: Edery 2011 2-generation family, 1 affected fetus, unaffected heterozygous carrier parents F - Norway - - 0 - - 1 Johan den Dunnen
+/. - n.53C>T r.(53c>u) - Maternal (confirmed) - pathogenic (recessive) g.122288508C>T g.121530932C>T - - RNU4ATAC_000028 - PubMed: Shelihan 2018 - - Germline - - - 0 - DNA SEQ - - LWS 30368667-Pat1 PubMed: Shelihan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Italy - - 0 - - 1 Johan den Dunnen
+/. - n.55G>A r.(55g>a) - Both (homozygous) - pathogenic (recessive) g.122288510G>A g.121530934G>A - - RNU4ATAC_000016 - PubMed: He 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474760-FamPat9 PubMed: He 2011 unaffected heterozygous carrier parents - - Germany - - 0 - - 1 Johan den Dunnen
+/. - n.55G>A r.(55g>a) - Both (homozygous) - pathogenic (recessive) g.122288510G>A g.121530934G>A - - RNU4ATAC_000016 - PubMed: Abdel-Salam 2012 - - Germline yes - - 0 - DNA SEQ - - MOPD 22581640-Fam2Pat2/3 PubMed: Abdel-Salam 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F;M yes Yemen - - 0 - - 2 Johan den Dunnen
+/. - n.55G>A r.(55g>a) - Both (homozygous) - pathogenic (recessive) g.122288510G>A g.121530934G>A - - RNU4ATAC_000016 - PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat16 PubMed: Nagy 2012 - F - Germany - >9y 0 - - 1 Johan den Dunnen
+/. - n.55G>A r.(55g>a) - Both (homozygous) - pathogenic (recessive) g.122288510G>A g.121530934G>A - - RNU4ATAC_000016 - PubMed: Abdel-Salam 2011 - - Germline yes - - 0 - DNA SEQ - - MOPD 21990275-Fam1PatIV2/3 PubMed: Abdel-Salam 2011 4-generation family, affected brothers, unaffected heterozygous carrier parents/relatives M yes Egypt - - 0 - - 1 Johan den Dunnen
+/. - n.55G>A r.(55g>a) - Both (homozygous) - pathogenic (recessive) g.122288510G>A g.121530934G>A - - RNU4ATAC_000016 - PubMed: Abdel-Salam 2013 - - Germline - - - 0 - DNA SEQ - - MOPD 23794361-Fam1Pat1/2 PubMed: Abdel-Salam 2013 2-generation family, affected brothers, unaffected heterozygous carrier parents M - Egypt - - 0 - - 2 Johan den Dunnen
+/. - n.55G>A r.(55g>a) - Both (homozygous) - pathogenic (recessive) g.122288510G>A g.121530934G>A - - RNU4ATAC_000016 - PubMed: Abdel-Salam 2016 - - Germline - - - 0 - DNA SEQ - - MOPD 26419500-FamPat1 PubMed: Abdel-Salam 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - >18y 0 - - 1 Johan den Dunnen
+/. - n.55G>A r.(55g>a) - Parent #2 - pathogenic (recessive) g.122288510G>A g.121530934G>A - - RNU4ATAC_000016 - PubMed: Putoux 2016 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat1 PubMed: Putoux 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - India - - 0 - - 1 Johan den Dunnen
+/. - n.66G>C r.(66g>c) - Maternal (confirmed) - pathogenic (recessive) g.122288521G>C g.121530945G>C - - RNU4ATAC_000014 - PubMed: Abdel-Salam 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 22581640-Fam1Pat1 PubMed: Abdel-Salam 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Egypt - - 0 - - 1 Johan den Dunnen
?/. - n.73C>G r.(?) - Unknown - VUS g.122288528C>G - RNU4ATAC(NR_023343.1):n.73C>G - CLASP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.100dup r.(?) - Unknown - VUS g.122288555dup - RNU4ATAC(NR_023343.1):n.96_97insT - CLASP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - n.111G>A r.(?) - Parent #2 - pathogenic (recessive) g.122288566G>A g.121530990G>A - - RNU4ATAC_000004 - PubMed: He 2011 - - Germline - - - 0 - DNA SEQ - - MOPD 21474760-FamPat10 PubMed: He 2011 unaffected heterozygous carrier parents - - Germany - - 0 - - 1 Johan den Dunnen
+/. - n.111G>A r.(111g>a) - Parent #2 - pathogenic (recessive) g.122288566G>A g.121530990G>A - - RNU4ATAC_000004 - PubMed: Nagy 2012 - - Germline - - - 0 - DNA SEQ - - MOPD 21815888-Pat17 PubMed: Nagy 2012,Klinge 2002 - M - Germany - >12y9m 0 - - 1 Johan den Dunnen
+/. - n.111G>A r.(111g>a) - Parent #1 ACMG pathogenic g.122288566G>A g.121530990G>A - - RNU4ATAC_000004 ACMG PS3, PS4 PubMed: Farach 2018 - - Germline yes - - 0 - DNA SEQ - - LWS 29265708-FamPat2/3 PubMed: Farach 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M no - - - 0 - - 2 Johan den Dunnen
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