Full data view for gene RNU4-2

Information The variants shown are described using the NR_003137.2 transcript reference sequence.

177 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.7_8insA r.(7_8insA) - Unknown - VUS g.120729699_120729700insT g.120291896_120291897insT - - RNU4-2_000042 ACMG PM2, PP3 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
-?/. - n.11A>C r.(11A>C) - Unknown - likely benign g.120729696T>G g.120291893T>G - - RNU4-2_000041 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
+/. - n.18_19insA r.(18_19insA) - Parent #1 ACMG pathogenic (dominant) g.120729688_120729689insT g.120291885_120291886insT - - RNU4-2_000040 ACMG PS3, PS4, PM2, PP3 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ-NG - WGS RP RNU4-2-FamA Journal: Quinodoz 2025 family, 8 affected - - - - - - - - 8 Susanne Roosing
+/. - n.18_19insA r.(18_19insA) - Parent #1 ACMG pathogenic (!) g.120729688_120729689insT g.120291885_120291886insT - - RNU4-2_000040 ACMG PS3, PS4, PM2, PP3; reduced penetrance Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP RNU4-2-FamB Journal: Quinodoz 2025 family, 9 affected - - Spain - - - - - 9 Susanne Roosing
+/. - n.18_19insA r.(18_19insA) - Parent #1 ACMG pathogenic (!) g.120729688_120729689insT g.120291885_120291886insT - - RNU4-2_000040 ACMG PS3, PS4, PM2, PP3; reduced penetrance Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP RNU4-2-FamC Journal: Quinodoz 2025 family, 4 affected - - Spain - - - - - 4 Susanne Roosing
+/. - n.18_19insA r.(18_19insA) - Parent #1 ACMG pathogenic (dominant) g.120729688_120729689insT g.120291885_120291886insT - - RNU4-2_000040 ACMG PS3, PS4, PM2, PP3 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP RNU4-2-FamD Journal: Quinodoz 2025 family, 10 affected - - United States - - - - - 10 Susanne Roosing
+/. - n.18_19insA r.(18_19insA) - Unknown ACMG pathogenic (!) g.120729688_120729689insT g.120291885_120291886insT - - RNU4-2_000040 ACMG PS3, PS4, PM2, PP3; reduced penetrance? Journal: Quinodoz 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS RP RNU4-2-FamE Journal: Quinodoz 2025 family, 1 affected, unaffected parents - - Germany - - - - - 1 Susanne Roosing
?/. - n.19T>C r.(19T>C) - Unknown - VUS g.120729688A>G g.120291885A>G - - RNU4-2_000039 ACMG PM2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
-?/. - n.23G>A r.(23G>A) - Unknown - likely benign g.120729684C>T g.120291881C>T - - RNU4-2_000038 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
-?/. - n.28C>T r.(28C>T) - Unknown - likely benign g.120729679G>A g.120291876G>A - - RNU4-2_000037 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 2 RP families - - - - - - - - 2 Johan den Dunnen
-?/. - n.37T>C r.(37T>C) - Unknown - likely benign g.120729670A>G g.120291867A>G - - RNU4-2_000036 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 9 RP families - - - - - - - - 9 Johan den Dunnen
?/. - n.54A>T r.(54A>T) - Unknown - VUS g.120729653T>A g.120291850T>A - - RNU4-2_000035 ACMG PM2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
?/. - n.56T>A r.(56T>A) - Unknown - VUS g.120729651A>T g.120291848A>T - - RNU4-2_000032 ACMG PM2, PP3 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
+/. - n.56T>C r.(56T>C) - Parent #1 ACMG pathogenic (!) g.120729651A>G g.120291848A>G - - RNU4-2_000034 ACMG PS3, PS4, PM2, PP3; reduced penetrance? Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP RNU4-2-FamF Journal: Quinodoz 2025 family, 4 affected - - Spain - - - - - 4 Susanne Roosing
+/. - n.56T>C r.(56T>C) - Parent #1 ACMG pathogenic (!) g.120729651A>G g.120291848A>G - - RNU4-2_000034 ACMG PS3, PS4, PM2, PP3; reduced penetrance Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP RNU4-2-FamG Journal: Quinodoz 2025 family, 4 affected - - Poland - - - - - 4 Susanne Roosing
+/. - n.56T>C r.(56T>C) - Parent #1 ACMG pathogenic (dominant) g.120729651A>G g.120291848A>G - - RNU4-2_000034 ACMG PS3, PS4, PM2, PP3 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP RNU4-2-FamH Journal: Quinodoz 2025 family, 3 affected - - Germany - - - - - 3 Susanne Roosing
+/. - n.56T>C r.(56T>C) - Unknown ACMG pathogenic (dominant) g.120729651A>G g.120291848A>G - - RNU4-2_000034 ACMG PS3, PS4, PM2, PP3 Journal: Quinodoz 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - Genomics England RP RNU4-2-FamI Journal: Quinodoz 2025 family, 1 affected, unaffected parents - - United Kingdom (Great Britain) white - - - - 1 Susanne Roosing
+/. - n.56T>C r.(56T>C) - Parent #1 ACMG pathogenic (!) g.120729651A>G g.120291848A>G - - RNU4-2_000034 ACMG PS3, PS4, PM2, PP3; reduced penetrance Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ-NG - Genomics England RP RNU4-2-FamJ Journal: Quinodoz 2025 family, 2 affected - - United Kingdom (Great Britain) Afro-carribean - - - - 2 Susanne Roosing
+/. - n.56T>C r.(56T>C) - Parent #1 ACMG pathogenic (dominant) g.120729651A>G g.120291848A>G - - RNU4-2_000034 ACMG PS3, PS4, PM2, PP3 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ-NG - WGS RP RNU4-2-FamK Journal: Quinodoz 2025 family, 2 affected - - - white - - - - 2 Susanne Roosing
+/. - n.56T>C r.(56T>C) - Parent #1 ACMG pathogenic (!) g.120729651A>G g.120291848A>G - - RNU4-2_000034 ACMG PS3, PS4, PM2, PP3; reduced penetrance Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP RNU4-2-FamL Journal: Quinodoz 2025 family, 13 affected - - India jew - - - - 13 Susanne Roosing
+/. - n.56T>C r.(56T>C) - Parent #1 ACMG pathogenic (dominant) g.120729651A>G g.120291848A>G - - RNU4-2_000034 ACMG PS3, PS4, PM2, PP3 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP RNU4-2-FamM Journal: Quinodoz 2025 family, 3 affected - - Belgium - - - - - 3 Susanne Roosing
-?/. - n.56T>G r.(56T>G) - Unknown - likely benign g.120729651A>C g.120291848A>C - - RNU4-2_000033 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
-?/. - n.58C>T r.(58C>T) - Unknown - likely benign g.120729649G>A g.120291846G>A - - RNU4-2_000031 ACMG BS2 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
?/. - n.58_59dup r.(58_59dup) - Unknown - VUS g.120729648_120729649dup g.120291845_120291846dup n.57_58insCT - RNU4-2_000030 ACMG PM2, PP3 Journal: Quinodoz 2025 - - Germline - - - - - DNA SEQ - - RP - Journal: Quinodoz 2025 1 RP family - - - - - - - - 1 Johan den Dunnen
+/. - n.63T>G r.(?) - Unknown - pathogenic (dominant) g.120729644A>C g.120291841A>C - - RNU4-2_000012 - PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - PubMed: Chen 2024 neurodevelopmental disorders cases Genomics England project - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.63T>G r.(63T>G) - Unknown - pathogenic (dominant) g.120729644A>C g.120291841A>C - - RNU4-2_000012 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS HTX FamG1 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(?) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup n.64_65insG - RNU4-2_000011 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat45 PubMed: Chen 2024 - F - Australia white;England;Ireland - - - - 1 Johan den Dunnen
+/. - n.64dup r.(?) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup n.64_65insG - RNU4-2_000011 - PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - PubMed: Chen 2024 neurodevelopmental disorders cases collaborators - - - - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG2 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG3 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG4 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG5 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG6 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS HTX FamG7 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG8 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS HTX FamG9 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG10 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG11 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG12 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG13 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG14 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG15 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG16 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS HTX FamG17 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG18 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG19 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG20 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG21 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG22 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG23 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG24 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG25 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG26 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG27 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG28 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG29 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG30 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG31 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG32 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG33 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG34 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG35 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS HTX FamG36 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG37 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - HTX FamN1 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents F - United States - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamN2 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - HTX FamP1 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamP2 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - HTX FamS1 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS2 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS3 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS4 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS5 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - HTX FamS6 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS7 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS8 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - HTX FamS9 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS10 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS11 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS12 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS13 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS14 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS15 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat1 PubMed: Chen 2024 - M - United States white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat2 PubMed: Chen 2024 - M - United States white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Maternal (confirmed) - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat3 PubMed: Chen 2024 - M - United States white;Hispanic;jew-Ashkenazi;Italy;Colombia;Poland - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat4 PubMed: Chen 2024 - M - United States Asia;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat5 PubMed: Chen 2024 - F - United States white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat6 PubMed: Chen 2024 - F - Lebanon white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat7 PubMed: Chen 2024 - M - Australia white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Maternal (confirmed) - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat8 PubMed: Chen 2024 - M - United States white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat9 PubMed: Chen 2024 - M - Australia white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat10 PubMed: Chen 2024 - F - United States white - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat11 PubMed: Chen 2024 - F - United States white;Asia - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat12 PubMed: Chen 2024 - F - - white - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Maternal (confirmed) - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat13 PubMed: Chen 2024 - M - Ukraine;Romania - - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat14 PubMed: Chen 2024 - M - - white;Asia;Anglo-Australia;Malaysia;China - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Maternal (confirmed) - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat15 PubMed: Chen 2024 - F - Australia white;Scotland;Cypriot-Turkey - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Maternal (confirmed) - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat16 PubMed: Chen 2024 - F - Australia white;Europe-N - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat17 PubMed: Chen 2024 - M - Australia white;Europe - - - - 1 Johan den Dunnen
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