Full data view for gene RNU2-2

Information The variants shown are described using the NR_002761.3 transcript reference sequence.

538 entries on 6 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.(-25A>G) r.(?) - Both (homozygous) - pathogenic (!) g.62609258T>C g.62841786T>C NR_199791.1:n.24G>A - RNU2-2_000107 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam57Pat68 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - n.(-25A>G) r.(?) - Both (homozygous) - pathogenic (!) g.62609258T>C g.62841786T>C NR_199791.1:n.24G>A - RNU2-2_000107 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam58Pat69 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - n.*14_*34del r.(?) - Parent #1 - pathogenic (recessive) g.62609063_62609093del g.62841591_62841621del NR_199791.1:n.*9_*29del - chr11_008639 - PubMed: Jackson 2026 - - Germline yes - - - - DNA SEQ, SEQ-NG - duo WES NDD Fam21Pat28 PubMed: Jackson 2026 half-sibling M - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+?/. - n.-10T>C r.(?) - Parent #1 - likely pathogenic (recessive) g.62609243A>G g.62841771A>G n.39T>C - RNU2-2_000097 - PubMed: Greene 2025, Journal: Greene 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamE2 PubMed: Greene 2025, Journal: Greene 2025 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-10T>C r.(?) - Parent #2 - pathogenic (recessive) g.62609243A>G g.62841771A>G NR_199791.1:n.39T>C - RNU2-2_000097 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam18Pat22 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - n.-11A>G r.(?) - Unknown ACMG VUS g.62609244T>C g.62841772T>C n.38A>G - RNU2-2_000098 ACMG PS2_supp, PM1, PM2_supp PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-35 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - n.-13G>A r.(?) - Parent #2 - VUS g.62609246C>T g.62841774C>T [36G>A;154C>T], 199791.1:n.36G>A - chr11_008697 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - duo WES NDD Fam36Pat45 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white - - - - 1 Johan den Dunnen
+/. - n.-14A>C r.(?) - Unknown - pathogenic (dominant) g.62609247T>G g.62841775T>G NR_199791.1:n.35A>C - RNU2-2_000002 - PubMed: Greene 2025, Journal: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD PatM2 PubMed: Greene 2025, Journal: Greene 2024 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-14A>C r.(?) - Unknown - pathogenic (dominant) g.62609247T>G g.62841775T>G ENST00000410396.1:n.35A>C - RNU2-2_000002 - PubMed: Jackson 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD 2-Pat21 PubMed: Jackson 2025 2-generation family, 1 affected, unaffected non-carrier parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-14A>C r.(?) - Unknown - pathogenic (dominant) g.62609247T>G g.62841775T>C ENST00000410396.1:n.35A>C - RNU2-2_000002 - PubMed: Jackson 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD 2-Pat22 PubMed: Jackson 2025 2-generation family, 1 affected, unaffected non-carrier parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-14A>C r.(?) - Unknown - pathogenic (dominant) g.62609247T>G g.62841775T>C ENST00000410396.1:n.35A>C - RNU2-2_000002 - PubMed: Jackson 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD 2-Pat23 PubMed: Jackson 2025 2-generation family, 1 affected, unaffected non-carrier parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-14A>C r.(?) - Unknown - pathogenic (dominant) g.62609247T>G g.62841775T>C ENST00000410396.1:n.35A>C - RNU2-2_000002 - PubMed: Jackson 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD 2-Pat24 PubMed: Jackson 2025 2-generation family, 1 affected, unaffected non-carrier parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-14A>C r.(?) - Unknown - pathogenic (dominant) g.62609247T>G g.62841775T>C ENST00000410396.1:n.35A>C - RNU2-2_000002 - PubMed: Jackson 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD 2-Pat25 PubMed: Jackson 2025 2-generation family, 1 affected, unaffected parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-14A>C r.(?) - Unknown - pathogenic (dominant) g.62609247T>G g.62841775T>C ENST00000410396.1:n.35A>C - RNU2-2_000002 - PubMed: Jackson 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD 2-Pat26 PubMed: Jackson 2025 2-generation family, 1 affected, unaffected parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-14A>C r.(?) - Unknown - pathogenic (dominant) g.62609247T>G g.62841775T>C ENST00000410396.1:n.35A>C - RNU2-2_000002 - PubMed: Jackson 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD 2-Pat27 PubMed: Jackson 2025 2-generation family, 1 affected, unaffected parents - - - Europe - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025, Journal: Greene 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatG6 PubMed: Greene 2025, Journal: Greene 2024 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025, Journal: Greene 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatG7 PubMed: Greene 2025, Journal: Greene 2024 2-generation family, 1 affected, unaffected non carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 variant not in mother PubMed: Greene 2025, Journal: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD PatG8 PubMed: Greene 2025, Journal: Greene 2024 2-generation family, 1 affected, unaffected non carrier mother F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025, Journal: Greene 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatG9 PubMed: Greene 2025, Journal: Greene 2024 2-generation family, 2 affected brothers, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025, Journal: Greene 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatS3 PubMed: Greene 2025, Journal: Greene 2024 2-generation family, 1 affected, unaffected non carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatI2 PubMed: Greene 2025 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatI3 PubMed: Greene 2025 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatI4 PubMed: Greene 2025 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatI5 PubMed: Greene 2025 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatI6 PubMed: Greene 2025 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatW1 PubMed: Greene 2025 2-generation family, 1 affected, unaffected non-carrier parents M - Netherlands - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; somatic variant (blood 0.1 (678/5218 reads), urine 0.20 (1181/5659 reads), buccal 0.25 (574/2267 reads) PubMed: Leitao 2025, Journal: Leitao 2025 - - Somatic - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-19 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Maternal (confirmed) ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; de novo variant on maternal allele PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-20 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, affected twins, unaffected non-carrier parents - - France - - - - - 2 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-21 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-22 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-23 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-24 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-25 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-26 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-27 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-28 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-29 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-30 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 - PubMed: Fan 2025, Journal: Fan 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat2 PubMed: Fan 2025, Journal: Fan 2025 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
?/. - n.-17T>C r.(?) - Parent #1 ACMG VUS g.62609250A>G g.62841778A>G n.32T>C - RNU2-2_000101 ACMG PM1, PM2_supp, PM3 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-53 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - France - - - - - 1 Johan den Dunnen
+?/. - n.-17T>G r.(?) - Unknown ACMG likely pathogenic (recessive) g.62609250A>C g.62841778A>C n.32T>G - RNU2-2_000100 ACMG PS2_supp, PM1, PM2_supp, PM3, PS4_supp, PP1 PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-66 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected parents - - - - - - - - 1 Johan den Dunnen
+?/. - n.-17T>G r.(?) - Parent #2 ACMG likely pathogenic (recessive) g.62609250A>C g.62841778A>C n.32T>G - RNU2-2_000100 ACMG PS2_supp, PM1, PM2_supp, PM3, PS4_supp, PP1 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-61 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 2 affected sibs, unaffected carrier parents - - - - - - - - 2 Johan den Dunnen
+?/. - n.-18G>A r.(?) - Maternal (confirmed) - likely pathogenic (recessive) g.62609251C>T g.62841779C>T n.31G>A - RNU2-2_000102 - PubMed: Greene 2025, Journal: Greene 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamV PubMed: Greene 2025, Journal: Greene 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - n.-18G>A r.(?) - Unknown ACMG VUS g.62609251C>T g.62841779C>T n.31G>A - RNU2-2_000102 ACMG PS2_supp, PM1, PM2_supp PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-64 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected parents - - France - - - - - 1 Johan den Dunnen
?/. - n.-18G>A r.(?) - Parent #2 ACMG VUS g.62609251C>T g.62841779C>T n.31G>A - RNU2-2_000102 ACMG PS2_supp, PM1, PM2_supp PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-65 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-18G>A r.(?) - Parent #1 - pathogenic (recessive) g.62609251C>T g.62841779C>T NR_199791.1:n.31G>A - RNU2-2_000102 - PubMed: Jackson 2026 - - Germline yes - - - - DNA SEQ, SEQ-NG - quad WES NDD Fam31Pat39 PubMed: Jackson 2026 2-generation family, 2 affected, unaffected heterozygous carrier parents - - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. - n.-18G>A r.(?) - Parent #1 - pathogenic (recessive) g.62609251C>T g.62841779C>T NR_199791.1:n.31G>A - RNU2-2_000102 - PubMed: Jackson 2026 - - Germline yes - - - - DNA SEQ, SEQ-NG - quad WES NDD Fam31Pat40 PubMed: Jackson 2026 sibling - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-18G>A r.(?) - Parent #2 - pathogenic (recessive) g.62609251C>T g.62841779C>T NR_199791.1:n.31G>A - RNU2-2_000102 - PubMed: Jackson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam46Pat56 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea, South (Republic) - - - - - 1 Johan den Dunnen
?/. - n.-19A>G r.(?) - Both (homozygous) ACMG VUS g.62609252T>C g.62841780T>C n.30A>G - RNU2-2_000103 ACMG PM1, PM2_supp PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-63 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - France - - - - - 1 Johan den Dunnen
?/. - n.-1A>C r.(?) - Parent #1 ACMG VUS g.62609234T>G g.62841762T>G n.48A>C - RNU2-2_000089 ACMG PM2_supp, PM1_supp PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-84 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - France - - - - - 1 Johan den Dunnen
+?/. - n.-1A>G r.(?) - Parent #1 - likely pathogenic (recessive) g.62609234T>C g.62841762T>C n.48A>G - RNU2-2_000088 - PubMed: Greene 2025, Journal: Greene 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamG2 PubMed: Greene 2025, Journal: Greene 2025 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-1A>G r.(?) - Parent #2 - pathogenic (recessive) g.62609234T>C g.62841762T>C NR_199791.1:n.48A>G - RNU2-2_000088 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam33Pat42 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
+/. - n.-1_*1176del r.0? - Parent #1 - pathogenic (recessive) g.62607921_62609235del g.62840449_62841763del del 62840448-62841762 (n.-1_*1176del) - RNU2-2_000005 partial gene deletion PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-95 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - France - - - - - 1 Johan den Dunnen
+?/. - n.-21C>G r.(?) - Parent #1 - likely pathogenic (recessive) g.62609254G>C g.62841782G>C n.28C>G - RNU2-2_000104 - PubMed: Greene 2025, Journal: Greene 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamD2 PubMed: Greene 2025, Journal: Greene 2025 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - n.-21C>G r.(?) - Unknown ACMG likely pathogenic (recessive) g.62609254G>C g.62841782G>C n.28C>G - RNU2-2_000104 ACMG PS4_Moderate, PM1, PM3, PP1; variant not in parent 2 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-61 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 2 affected sibs, unaffected carrier parents - - - - - - - - 2 Johan den Dunnen
+?/. - n.-21C>G r.(?) - Parent #1 ACMG likely pathogenic (recessive) g.62609254G>C g.62841782G>C n.28C>G - RNU2-2_000104 ACMG PS4_Moderate, PM1, PM3, PP1 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-62 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - France - - - - - 1 Johan den Dunnen
+?/. - n.-21C>G r.(?) - Parent #1 ACMG likely pathogenic (recessive) g.62609254G>C g.62841782G>C n.28C>G - RNU2-2_000104 ACMG PS4_Moderate, PM1, PM3, PP1 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-52 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - n.-21C>G r.(?) - Both (homozygous) - pathogenic (recessive) g.62609254G>C g.62841782G>C NR_199791.1:n.28C>G - RNU2-2_000104 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam43Pat52 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Australia - - - - - 1 Johan den Dunnen
+/. - n.-21C>G r.(?) - Parent #2 - pathogenic (recessive) g.62609254G>C g.62841782G>C NR_199791.1:n.28C>G - RNU2-2_000104 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - quad WES NDD Fam17Pat20 PubMed: Jackson 2026 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - 23y - - - 2 Johan den Dunnen
+/. - n.-21C>G r.(?) - Parent #2 - pathogenic (recessive) g.62609254G>C g.62841782G>C NR_199791.1:n.28C>G - RNU2-2_000104 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - quad WES NDD Fam17Pat21 PubMed: Jackson 2026 sib M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-23A>C r.(?) - Parent #2 - pathogenic (recessive) g.62609256T>C g.62841784T>C NR_199791.1:n.26A>C - RNU2-2_000105 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - quad WES NDD Fam11Pat14 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - n.-23A>G r.(?) - Parent #1 ACMG VUS g.62609256T>C g.62841784T>C n.26A>G - RNU2-2_000105 ACMG PM1, PM2_supp, PM3 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-60 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - France - - - - - 1 Johan den Dunnen
+?/. - n.-24G>A r.(?) - Parent #1 - likely pathogenic (recessive) g.62609257C>T g.62841785C>T n.25G>A - RNU2-2_000106 - PubMed: Greene 2025, Journal: Greene 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamC2 PubMed: Greene 2025, Journal: Greene 2025 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - n.-24G>A r.(?) - Both (homozygous) ACMG VUS g.62609257C>T g.62841785C>T n.25G>A - RNU2-2_000106 ACMG PS4_Moderate, PM1 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-57 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - France - - - - - 1 Johan den Dunnen
?/. - n.-24G>A r.(?) - Both (homozygous) ACMG VUS g.62609257C>T g.62841785C>T n.25G>A - RNU2-2_000106 ACMG PS4_Moderate, PM1 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-58 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - France - - - - - 1 Johan den Dunnen
?/. - n.-24G>A r.(?) - Parent #2 ACMG VUS g.62609257C>T g.62841785C>T n.25G>A - RNU2-2_000106 ACMG PS4_Moderate, PM1 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-59 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-24G>A r.(?) - Parent #2 - pathogenic (recessive) g.62609257C>T g.62841785C>T NR_199791.1:n.25G>A - RNU2-2_000106 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam28Pat35 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - n.-24G>T r.(?) - Parent #1 - pathogenic (recessive) g.62609257C>A g.62841785C>A NR_199791.1:n.25G>T - chr11_008655 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam66Pat81 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Sweden - - - - - 1 Johan den Dunnen
?/. - n.-25A>G r.(?) - Parent #1 ACMG VUS g.62609258T>C g.62841786T>C n.24A>G - RNU2-2_000107 ACMG PM1, PM2_supp, PP1 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-56 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 2 affected sibs, unaffected carrier parents - - - - - - - - 2 Johan den Dunnen
?/. - n.-26A>G r.(?) - Parent #2 ACMG VUS g.62609259T>C g.62841787T>C n.23A>G - RNU2-2_000108 ACMG PM1, PM2_supp PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-49 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-26A>G r.(?) - Both (homozygous) - pathogenic (recessive) g.62609259T>C g.62841787T>C NR_199791.1:n.23A>G - RNU2-2_000108 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam59Pat70 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - n.-26A>G r.(?) - Both (homozygous) - pathogenic (recessive) g.62609259T>C g.62841787T>C NR_199791.1:n.23A>G - RNU2-2_000108 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam67Pat82 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Sweden - - - - - 1 Johan den Dunnen
+/. - n.-28C>A r.(?) - Parent #1 - pathogenic (recessive) g.62609261G>T g.62841789G>T NR_199791.1:n.21C>A - chr11_008648 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam48Pat58 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Korea, South (Republic) - - - - - 1 Johan den Dunnen
+/. - n.-28C>A r.(?) - Parent #2 - pathogenic (recessive) g.62609261G>T g.62841789G>T NR_199791.1:n.21C>A - chr11_008648 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam49Pat59 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Korea, South (Republic) - - - - - 1 Johan den Dunnen
?/. - n.-28C>G r.(?) - Unknown ACMG VUS g.62609261G>C g.62841789G>C n.21C>G - RNU2-2_000109 ACMG PS2_supp, PM1, PM2_supp PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-34 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-29G>A r.(?) - Both (homozygous) - pathogenic (recessive) g.62609262C>T g.62841790C>T n.20G>A - RNU2-2_000111 - PubMed: Greene 2025, Journal: Greene 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamD PubMed: Greene 2025, Journal: Greene 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-29G>A r.(?) - Both (homozygous) - pathogenic (recessive) g.62609262C>T g.62841790C>T n.20G>A - RNU2-2_000111 - PubMed: Greene 2025, Journal: Greene 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamE PubMed: Greene 2025, Journal: Greene 2025 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. - n.-29G>A r.(?) - Maternal (confirmed) - pathogenic (recessive) g.62609262C>T g.62841790C>T n.20G>A - RNU2-2_000111 - PubMed: Greene 2025, Journal: Greene 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamF PubMed: Greene 2025, Journal: Greene 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - n.-29G>A r.(?) - Parent #2 ACMG likely pathogenic (recessive) g.62609262C>T g.62841790C>T n.20G>A - RNU2-2_000111 ACMG PS4, PM1 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-52 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. - n.-29G>A r.(?) - Parent #2 ACMG likely pathogenic (recessive) g.62609262C>T g.62841790C>T n.20G>A - RNU2-2_000111 ACMG PS4, PM1 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-53 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - France - - - - - 1 Johan den Dunnen
+?/. - n.-29G>A r.(?) - Parent #1 ACMG likely pathogenic (recessive) g.62609262C>T g.62841790C>T n.20G>A - RNU2-2_000111 ACMG PS4, PM1 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-54 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. - n.-29G>A r.(?) - Parent #2 ACMG likely pathogenic (recessive) g.62609262C>T g.62841790C>T n.20G>A - RNU2-2_000111 ACMG PS4, PM1 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-55 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - France - - - - - 1 Johan den Dunnen
+?/. - n.-29G>A r.(?) - Parent #2 ACMG likely pathogenic (recessive) g.62609262C>T g.62841790C>T n.[20G>A;49T>C] - RNU2-2_000111 ACMG PS4, PM1 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-73 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - n.-29G>A r.(?) - Both (homozygous) - pathogenic (recessive) g.62609262C>T g.62841790C>T NR_199791.1:n.20G>A - RNU2-2_000111 - PubMed: Jackson 2026 - - Germline yes - - - - DNA SEQ, SEQ-NG - quad WES NDD Fam4Pat4 PubMed: Jackson 2026 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) Pakistan - - - - 2 Johan den Dunnen
+/. - n.-29G>A r.(?) - Both (homozygous) - pathogenic (recessive) g.62609262C>T g.62841790C>T NR_199791.1:n.20G>A - RNU2-2_000111 - PubMed: Jackson 2026 - - Germline yes - - - - DNA SEQ, SEQ-NG - quad WES NDD Fam4Pat5 PubMed: Jackson 2026 sister F - United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - n.-29G>A r.(?) - Both (homozygous) - pathogenic (recessive) g.62609262C>T g.62841790C>T NR_199791.1:n.20G>A - RNU2-2_000111 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam5Pat6 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - n.-29G>A r.(?) - Parent #1 - pathogenic (recessive) g.62609262C>T g.62841790C>T NR_199791.1:n.20G>A - RNU2-2_000111 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam49Pat59 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Korea, South (Republic) - - - - - 1 Johan den Dunnen
+/. - n.-29G>A r.(?) - Both (homozygous) - pathogenic (recessive) g.62609262C>T g.62841790C>T NR_199791.1:n.20G>A - RNU2-2_000111 - PubMed: Jackson 2026 - - Germline yes - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam60Pat71 PubMed: Jackson 2026 2-generation family, 2 affected, unaffected heterozygous carrier parents - - Saudi Arabia - - - - - 2 Johan den Dunnen
+/. - n.-29G>A r.(?) - Both (homozygous) - pathogenic (recessive) g.62609262C>T g.62841790C>T NR_199791.1:n.20G>A - RNU2-2_000111 - PubMed: Jackson 2026 - - Germline yes - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam60Pat72 PubMed: Jackson 2026 sibling - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - n.-29G>A r.(?) - Parent #2 - pathogenic (recessive) g.62609262C>T g.62841790C>T NR_199791.1:n.20G>A - RNU2-2_000111 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - duo WES NDD Fam12Pat15 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-30G>A r.(?) - Paternal (inferred) - pathogenic (recessive) g.62609263C>T g.62841791C>T n.19G>A - RNU2-2_000112 - PubMed: Greene 2025, Journal: Greene 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamB PubMed: Greene 2025, Journal: Greene 2025 2-generation family, 1 affected, unaffected heterozygous carrier mother M no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-30G>A r.(?) - Paternal (confirmed) - pathogenic (recessive) g.62609263C>T g.62841791C>T n.19G>A - RNU2-2_000112 - PubMed: Greene 2025, Journal: Greene 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamU PubMed: Greene 2025, Journal: Greene 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - n.-30G>A r.(?) - Maternal (confirmed) - pathogenic (recessive) g.62609263C>T g.62841791C>T n.19G>A - RNU2-2_000112 - PubMed: Greene 2025, Journal: Greene 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamC PubMed: Greene 2025, Journal: Greene 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-30G>A r.(?) - Parent #2 - pathogenic (recessive) g.62609263C>T g.62841791C>T NR_199791.1:n.19G>A - RNU2-2_000112 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam27Pat34 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - n.-30G>A r.(?) - Parent #2 - pathogenic (recessive) g.62609263C>T g.62841791C>T NR_199791.1:n.19G>A - RNU2-2_000112 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - duo WES NDD Fam35Pat44 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States white - - - - 1 Johan den Dunnen
+/. - n.-30G>A r.(?) - Parent #2 - pathogenic (recessive) g.62609263C>T g.62841791C>T NR_199791.1:n.19G>A - RNU2-2_000112 - PubMed: Jackson 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam64Pat79 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Sweden - - - - - 1 Johan den Dunnen
+/. - n.-31_-28delinsGGG r.(?) - Parent #1 - pathogenic (recessive) g.62609261_62609264delinsCCC g.62841789_62841792delinsCCC n.18_21delinsGGG - RNU2-2_000110 - PubMed: Greene 2025, Journal: Greene 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamA PubMed: Greene 2025, Journal: Greene 2025 2-generation family, 1 affected, unaffected parents M no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - n.-32_-14dup r.(?) - Both (homozygous) ACMG VUS g.62609247_62609265dup g.62841775_62841793dup n.17_35dup - RNU2-2_000099 ACMG PM1, PM2_supp, PP1 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-51 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 2 affected sibs, unaffected carrier parents - - France - - - - - 2 Johan den Dunnen
+/. - n.-32_-31delinsGGG r.(?) - Parent #2 - pathogenic (recessive) g.62609261_62609264delinsCCC g.62841789_62841792delinsCCC NR_199791.1:n.18_21delinsGGG - RNU2-2_000110 - PubMed: Jackson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam41Pat50 PubMed: Jackson 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States white - - - - 1 Johan den Dunnen
+/. - n.-35C>G r.(?) - Parent #1 - pathogenic (recessive) g.62609268G>C g.62841796G>C NR_199791.1:n.14C>G - chr11_008654 - PubMed: Jackson 2026 - - Germline yes - - - - DNA SEQ, SEQ-NG - quad WES NDD Fam63Pat77 PubMed: Jackson 2026 2-generation family, 2 affected, unaffected heterozygous carrier parents - - Sweden - - - - - 2 Johan den Dunnen
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