Full data view for gene SUPT16H

Information The variants shown are described using the NM_007192.3 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.(?_-710196)_(*1309160_?)del r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_20511672)_(22562282_?)del g.(?_20043513)_(22094123_?)del hg19? del chr14:20511672–22562282 - SUPT16H_000027 2.05 Mb deletion 4q11.1q11.2 incl.SUPT16H; carries also 30.17 Mb copy number gain chromosome bands 18p11.32q12.1 PubMed: Bina 2020 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - - NDD Pat5 PubMed: Bina 2020 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
-?/. - c.-2229G>A r.(?) p.(=) Unknown - likely benign g.21854315C>T g.21386156C>T CHD8(NM_001170629.2):c.7203G>A (p.V2401=) - CHD8_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2120A>C r.(?) p.(=) Unknown - likely benign g.21854206T>G g.21386047T>G CHD8(NM_001170629.1):c.7312A>C (p.(Thr2438Pro)) - CHD8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2001G>A r.(?) p.(=) Unknown - VUS g.21854087C>T g.21385928C>T CHD8(NM_001170629.1):c.7431G>A (p.M2477I) - CHD8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1933A>C r.(?) p.(=) Unknown - likely benign g.21854019T>G g.21385860T>G CHD8(NM_001170629.1):c.7499A>C (p.H2500P, p.(His2500Pro)) - CHD8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1933A>C r.(?) p.(=) Unknown - likely benign g.21854019T>G g.21385860T>G CHD8(NM_001170629.1):c.7499A>C (p.H2500P, p.(His2500Pro)) - CHD8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1927A>C r.(?) p.(=) Unknown - likely benign g.21854013T>G g.21385854T>G CHD8(NM_001170629.1):c.7505A>C (p.(His2502Pro)) - CHD8_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1917_-1909del r.(?) p.(=) Unknown - VUS g.21854007_21854015del g.21385848_21385856del CHD8(NM_001170629.1):c.7515_7523delCCATCACCA (p.H2506_H2508del) - CHD8_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1767T>C r.(?) p.(=) Unknown - likely benign g.21853853A>G g.21385694A>G CHD8(NM_001170629.1):c.7665T>C (p.(Asp2555=)) - CHD8_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1757A>G r.(?) p.(=) Unknown - likely benign g.21853843T>C g.21385684T>C CHD8(NM_001170629.1):c.7675A>G (p.(Arg2559Gly)), CHD8(NM_001170629.2):c.7675A>G (p.R2559G) - CHD8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1757A>G r.(?) p.(=) Unknown - likely benign g.21853843T>C g.21385684T>C CHD8(NM_001170629.1):c.7675A>G (p.(Arg2559Gly)), CHD8(NM_001170629.2):c.7675A>G (p.R2559G) - CHD8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.123_125del r.(?) p.(Asp41del) Unknown - likely pathogenic (dominant) g.21841534_21841536del g.21373375_21373377del 123_125delTGA - SUPT16H_000009 - PubMed: Lee 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat1 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.277G>A r.(?) p.(Gly93Ser) Unknown - VUS g.21840086C>T g.21371927C>T - - SUPT16H_000010 - PubMed: Lee 2026 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat18 PubMed: Lee 2026 2-generation family, 1 affected, unaffected parents F - United States - - - - - 1 Johan den Dunnen
+?/. - c.484A>G r.(?) p.(Ile162Val) Unknown - likely pathogenic (dominant) g.21838055T>C g.21369896T>C - - SUPT16H_000014 - PubMed: Bina 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Bina 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.512C>T r.(?) p.(Thr171Ile) Unknown - pathogenic (dominant) g.21838027G>A g.21369868G>A 2421C>T (Gly808Arg) - SUPT16H_000015 - PubMed: Ma 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat1 PubMed: Ma 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - 10y - - - 1 Johan den Dunnen
?/. - c.514A>G r.(?) p.(Ile172Val) Unknown - VUS g.21838025T>C g.21369866T>C - - SUPT16H_000016 - PubMed: Lee 2026 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat19 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier mother M - - - - - - - 1 Johan den Dunnen
-?/. - c.563G>A r.(?) p.(Ser188Asn) Unknown - likely benign g.21837976C>T - SUPT16H(NM_007192.3):c.563G>A (p.(Ser188Asn)) - SUPT16H_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.563G>T r.(?) p.(Ser188Ile) Unknown - VUS g.21837976C>A - SUPT16H(NM_007192.4):c.563G>T (p.(Ser188Ile)) - SUPT16H_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.637C>T r.(?) p.(Arg213Ter) Unknown - likely pathogenic (dominant) g.21837508G>A g.21369349G>A - - SUPT16H_000017 - PubMed: Lee 2026 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat13 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier mother F - United States - - - - - 1 Johan den Dunnen
+/. - c.662_663del r.(?) p.(Val221GlyfsTer5) Unknown - pathogenic (dominant) g.21837484_21837485del g.21369325_21369326del 662_663delTG - SUPT16H_000018 - PubMed: Lee 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat14 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.730C>T r.(?) p.(Pro244Ser) Unknown - VUS g.21837415G>A - SUPT16H(NM_007192.4):c.730C>T (p.(Pro244Ser)) - SUPT16H_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.817dup r.(?) p.(Cys273Leufs*21) Unknown - VUS g.21836567dup - SUPT16H(NM_007192.4):c.817dup (p.(Cys273Leufs*21)) - SUPT16H_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.832C>T r.(?) p.(Arg278Cys) Unknown - VUS g.21836551G>A g.21368392G>A 14:21836551:G:A - SUPT16H_000028 - PubMed: Iossifov 2014 - - De novo - - - - - DNA SEQ-NG - - autism 14116 PubMed: Iossifov 2014 - M - United States - - - - - 1 Johan den Dunnen
?/. - c.933G>C r.(?) p.(Glu311Asp) Maternal (confirmed) - VUS g.21836450C>G g.21368291C>G - - SUPT16H_000021 - PubMed: Lee 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat20 PubMed: Lee 2026 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - - - - - - 2 Johan den Dunnen
?/. - c.933G>C r.(?) p.(Glu311Asp) Maternal (confirmed) - VUS g.21836450C>G g.21368291C>G - - SUPT16H_000021 - PubMed: Lee 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam2Pat21 PubMed: Lee 2026 2-generation family, 2 affected sisters, unaffected heterozygous carrier mother F - - - - - - - 2 Johan den Dunnen
-?/. - c.955+6G>A r.(=) p.(=) Unknown - likely benign g.21836422C>T - SUPT16H(NM_007192.4):c.955+6G>A - SUPT16H_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.967T>C r.(?) p.(Cys323Arg) Unknown - likely benign g.21834677A>G - SUPT16H(NM_007192.4):c.967T>C (p.(Cys323Arg)) - SUPT16H_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.973G>A r.(?) p.(Val325Met) Unknown - VUS g.21834671C>T - SUPT16H(NM_007192.3):c.973G>A (p.(Val325Met)) - SUPT16H_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.973G>T r.(?) p.(Val325Leu) Unknown - likely benign g.21834671C>A - SUPT16H(NM_007192.4):c.973G>T (p.V325L) - SUPT16H_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1047-5T>C r.spl? p.? Unknown - likely benign g.21833307A>G - SUPT16H(NM_007192.4):c.1047-5T>C - SUPT16H_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1065A>T r.(?) p.(Glu355Asp) Unknown - likely pathogenic (dominant) g.21833284T>A g.21365125T>A - - SUPT16H_000022 - PubMed: Lee 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat2 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.1087A>G r.(?) p.(Ile363Val) Unknown - likely benign g.21833262T>C - SUPT16H(NM_007192.4):c.1087A>G (p.I363V) - SUPT16H_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1198G>T r.(?) p.(Ala400Ser) Maternal (confirmed) - VUS g.21833021C>A g.21364862C>A - - SUPT16H_000049 - PubMed: Lee 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam2Pat22 PubMed: Lee 2026 sister F - - - - - - - 1 Johan den Dunnen
?/. - c.1295T>C r.(?) p.(Leu432Pro) Unknown - VUS g.21831601A>G g.21363442A>G SUPT16H(NM_007192.3):c.1295T>C (p.L432P) - SUPT16H_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1295T>C r.(?) p.(Leu432Pro) Unknown - pathogenic (dominant) g.21831601A>G g.21363442A>G - - SUPT16H_000002 - PubMed: Bina 2020 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - WES NDD Pat3 PubMed: Bina 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.1327_1329del r.(?) p.(Glu443del) Unknown - VUS g.21831467_21831469del - SUPT16H(NM_007192.3):c.1327_1329delGAG (p.(Glu443del)) - SUPT16H_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1345G>A r.(?) p.(Asp449Asn) Unknown - likely pathogenic (dominant) g.21831442C>T g.21363283C>T - - SUPT16H_000048 - PubMed: Lee 2026 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat3 PubMed: Lee 2026 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
?/. - c.1573C>T r.(?) p.(Arg525Trp) Unknown - VUS g.21831045G>A g.21362886G>A SUPT16H(NM_007192.3):c.1573C>T (p.(Arg525Trp)) - SUPT16H_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1712A>G r.(?) p.(Asn571Ser) Unknown - pathogenic (dominant) g.21830437T>C g.21362278T>C - - SUPT16H_000047 - PubMed: Bina 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Bina 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.1713C>A r.(?) p.(Asn571Lys) Unknown - likely pathogenic (dominant) g.21830436G>T g.21362277G>T - - SUPT16H_000046 - PubMed: Lee 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat4 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.1930-9_1930-7del r.(=) p.(=) Unknown - likely benign g.21829143_21829145del - SUPT16H(NM_007192.4):c.1930-9_1930-7del - SUPT16H_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1943A>G r.(?) p.(Gln648Arg) Unknown - pathogenic (dominant) g.21829118T>C g.21360959T>C - - SUPT16H_000045 - PubMed: Lee 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat5 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.2054A>G r.(?) p.(Asn685Ser) Unknown - likely pathogenic (dominant) g.21829007T>C g.21360848T>C - - SUPT16H_000029 individual carries de novo FGFR1 mosaic pathogenic variant (Q288Rfs*3) PubMed: Lee 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat23 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.2077C>G r.(?) p.(Arg693Gly) Unknown - likely pathogenic (dominant) g.21828672G>C g.21360513G>C - - SUPT16H_000044 - PubMed: Lee 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat6 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.2078G>A r.(?) p.(Arg693Gln) Unknown - VUS g.21828671C>T - NM_007192:c.G2078A (R693Q) - SUPT16H_000005 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSJ0655 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
?/. - c.2078G>A r.(?) p.(Arg693Gln) Unknown - VUS g.21828671C>T g.21360512C>T 14:21828671:C:T - SUPT16H_000005 - PubMed: Iossifov 2014 - - De novo - - - - - DNA SEQ-NG - - autism 11089 PubMed: Iossifov 2014 - M - United States - - - - - 1 Johan den Dunnen
+?/. - c.2087_2088del r.(?) p.(Lys696SerfsTer7) Maternal (confirmed) - likely pathogenic (dominant) g.21828662_21828663del g.21360503_21360504del - - SUPT16H_000043 - PubMed: Lee 2026 - - Germline yes - - - - DNA SEQ, SEQ-NG - - NDD Fam1Pat15 PubMed: Lee 2026 2-generation family, affected brother/sister, mildly affected mother M - - - - - - - 3 Johan den Dunnen
+?/. - c.2087_2088del r.(?) p.(Lys696SerfsTer7) Maternal (confirmed) - likely pathogenic (dominant) g.21828662_21828663del g.21360503_21360504del - - SUPT16H_000043 - PubMed: Lee 2026 - - Germline yes - - - - DNA SEQ, SEQ-NG - - NDD Fam1Pat16 PubMed: Lee 2026 sister F - - - - - - - 1 Johan den Dunnen
+?/. - c.2087_2088del r.(?) p.(Lys696SerfsTer7) Unknown - likely pathogenic (dominant) g.21828662_21828663del g.21360503_21360504del - - SUPT16H_000043 - PubMed: Lee 2026 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Fam1mother PubMed: Lee 2026 carrier mother F - - - - - - - 1 Johan den Dunnen
+/. - c.2200C>T r.(?) p.(Arg734Trp) Unknown - pathogenic (dominant) g.21827744G>A g.21359585G>A - - SUPT16H_000042 - PubMed: Lee 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat7 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.2200C>T r.(?) p.(Arg734Trp) Unknown - pathogenic (dominant) g.21827744G>A g.21359585G>A - - SUPT16H_000042 - PubMed: Bina 2020 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - WES NDD Pat1 PubMed: Bina 2020 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.2200C>T r.(?) p.(Arg734Trp) Unknown - pathogenic (dominant) g.21827744G>A g.21359585G>A - - SUPT16H_000042 - PubMed: Nishikiori 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient PubMed: Nishikiori 2025 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - 1 Johan den Dunnen
?/. - c.2206A>G r.(?) p.(Thr736Ala) Unknown - VUS g.21827738T>C g.21359579T>C - - SUPT16H_000041 - PubMed: Lee 2026 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat24 PubMed: Lee 2026 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.2240T>G r.(?) p.(Ile747Arg) Maternal (confirmed) - likely pathogenic (dominant) g.21827704A>C g.21359545A>C - - SUPT16H_000040 - PubMed: Lee 2026 - - Germline yes - - - - DNA SEQ, SEQ-NG - - NDD Pat8 PubMed: Lee 2026 2-generation family, 3 affected (mother, maternal grandmother, maternal uncle and newborn sibling heterozygous carrier) F - - - - - - - 3 Johan den Dunnen
?/. - c.2377G>A r.(?) p.(Glu793Lys) Unknown - VUS g.21826511C>T - SUPT16H(NM_007192.4):c.2377G>A (p.E793K) - SUPT16H_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2422G>A r.(?) p.(Gly808Arg) Unknown - pathogenic (dominant) g.21826154C>T g.21357995C>T - - SUPT16H_000039 - PubMed: Ma 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat2 PubMed: Ma 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.2429C>T r.(?) p.(Pro810Leu) Unknown - likely pathogenic (dominant) g.21826147G>A g.21357988G>A - - SUPT16H_000038 - PubMed: Lee 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat9 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.2483C>T r.(?) p.(Thr828Met) Maternal (confirmed) - likely pathogenic (dominant) g.21826093G>A g.21357934G>A - - SUPT16H_000037 - PubMed: Lee 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat10 PubMed: Lee 2026 2-generation family, 1 affected, unaffected heterozygous carrier mother F - - - - - - - 1 Johan den Dunnen
+?/. - c.2519T>C r.(?) p.(Val840Ala) Unknown - likely pathogenic (dominant) g.21825497A>G g.21357338A>G - - SUPT16H_000036 - PubMed: Lee 2026 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat11 PubMed: Lee 2026 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
+/. - c.2539C>T r.(?) p.(Arg847Trp) Unknown - pathogenic (dominant) g.21825477G>A g.21357318G>A - - SUPT16H_000035 - PubMed: Lee 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat12 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.2539C>T r.(?) p.(Arg847Trp) Unknown - pathogenic (dominant) g.21825477G>A g.21357318G>A - - SUPT16H_000035 - PubMed: Balakrishnan 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient PubMed: Balakrishnan 2024 2-generation family, 1 affected, unaffected non-carrier parents M no India - - - - - 1 Johan den Dunnen
?/. - c.2790+7G>A r.(=) p.(=) Unknown - VUS g.21822563C>T - SUPT16H(NM_007192.3):c.2790+7G>A (p.?) - SUPT16H_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2958del r.(?) p.(Ser986ArgfsTer31) Unknown - pathogenic (dominant) g.21821687del g.21353528del 2958delT - SUPT16H_000034 - PubMed: Lee 2026 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat17 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.3085C>T r.(?) p.(Arg1029Cys) Unknown - likely benign g.21820891G>A - SUPT16H(NM_007192.3):c.3085C>T (p.(Arg1029Cys)) - SUPT16H_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3086G>A r.(?) p.(Arg1029His) Unknown - likely benign g.21820890C>T g.21352731C>T SUPT16H(NM_007192.3):c.3086G>A (p.(Arg1029His)) - SUPT16H_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3098G>A r.(?) p.(Arg1033His) Unknown - likely benign g.21820878C>T - SUPT16H(NM_007192.4):c.3098G>A (p.R1033H) - SUPT16H_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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