Full data view for gene CHD4

Information The variants shown are described using the NM_001273.2 transcript reference sequence.

150 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     
-?/. - c.13C>T r.(?) p.(=) Unknown - likely benign g.6715527G>A - CHD4(NM_001273.5):c.13C>T (p.(Leu5=)) - CHD4_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.214A>T r.(?) p.(Lys72Ter) Unknown ACMG VUS g.6711550T>A g.6602384T>A - - CHD4_000093 - PubMed: Karimi 2025 - - Germline/De novo (untested) - - - - inconclusive episignature DNA arrayMET, SEQ, SEQ-NG - WES SIHIWES Pat20 PubMed: Karimi 2025 - M - - - - - - - 1 Johan den Dunnen
?/. - c.355A>C r.(?) p.(Lys119Gln) Unknown - VUS g.6711209T>G - CHD4(NM_001273.2):c.355A>C (p.(Lys119Gln)) - CHD4_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.409G>A r.(?) p.(Glu137Lys) Unknown - VUS g.6711155C>T - CHD4(NM_001273.5):c.409G>A (p.E137K) - CHD4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.414_419del r.(?) p.(Glu138_Glu139del) Unknown - likely benign g.6711161_6711166del - CHD4(NM_001273.5):c.414_419del (p.(Glu138_Glu139del)) - CHD4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.417_419del r.(?) p.(Glu139del) Unknown - likely benign g.6711164_6711166del g.6601998_6602000del CHD4(NM_001273.5):c.417_419delGGA (p.E139del) - CHD4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.417_419dup r.(?) p.(Glu139dup) Unknown - likely benign g.6711164_6711166dup - CHD4(NM_001273.5):c.417_419dupGGA (p.E139dup) - CHD4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.430_432dup r.(?) p.(Asp144dup) Unknown - VUS g.6711144_6711146dup - - - CHD4_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.438+3G>A r.spl? p.? Unknown - likely benign g.6711123C>T g.6601957C>T CHD4(NM_001273.5):c.438+3G>A - CHD4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.496G>A r.(?) p.(Val166Met) Unknown - VUS g.6710875C>T - CHD4(NM_001273.5):c.496G>A (p.V166M) - CHD4_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.606G>A r.(?) p.(Met202Ile) Unknown - pathogenic (dominant) g.6710648C>T g.6601482C>T - - CHD4_000109 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat1 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. 6 c.773G>A r.(?) p.(Arg258His) Unknown ACMG likely pathogenic g.6710481C>T g.6601315C>T - - CHD4_000060 - - ClinVar-3374707 - De novo - - - - - DNA SEQ-NG-I peripheral blood WES ID - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
-?/. - c.800-3T>C r.spl? p.? Unknown - likely benign g.6710222A>G - CHD4(NM_001273.5):c.800-3T>C - CHD4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.895G>T r.(?) p.(Gly299Ter) Maternal (confirmed) ACMG VUS g.6710124C>A g.6600958C>A - - CHD4_000092 inherited from unaffected mother PubMed: Karimi 2025 - - Germline - - - - inconclusive episignature DNA arrayMET, SEQ, SEQ-NG - WES SIHIWES Pat21 PubMed: Karimi 2025 - M - - - - - - - 1 Johan den Dunnen
?/. - c.1063+2T>C r.spl? p.? Unknown - VUS g.6709698A>G - CHD4(NM_001273.5):c.1063+2T>C - CHD4_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1123G>T r.(?) p.(Val375Leu) Unknown - VUS g.6709502C>A - - - CHD4_000045 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1243-7A>T r.(=) p.(=) Unknown - likely benign g.6709185T>A - CHD4(NM_001273.5):c.1243-7A>T - CHD4_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1283C>G r.(?) p.(Ser428Trp) Unknown - VUS g.6709138G>C - CHD4(NM_001273.2):c.1283C>G (p.(Ser428Trp)) - CHD4_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1324G>A r.(?) p.(Glu442Lys) Unknown - VUS g.6709097C>T - CHD4(NM_001273.2):c.1324G>A (p.(Glu442Lys)) - CHD4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1342C>T r.(?) p.(His448Tyr) Unknown ACMG VUS g.6709079G>A g.6599913G>A - - CHD4_000091 - PubMed: Karimi 2025 - - De novo - - - - identifiable episignature DNA arrayMET, SEQ, SEQ-NG - WES SIHIWES Pat15 PubMed: Karimi 2025 - F - - - - - - - 1 Johan den Dunnen
+/+? 10 c.1400G>A r.(?) p.(Cys467Tyr) Unknown - pathogenic g.6709021C>T g.6599855C>T - - CHD4_000010 - PubMed: Sifrim 2016, Journal: Sifrim 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - SIHIWES - PubMed: Sifrim 2016, Journal: Sifrim 2016 - M - - - - - - - 1 Johan den Dunnen
+/. - c.1400G>A r.(?) p.(Cys467Tyr) Unknown - pathogenic (dominant) g.6709021C>T g.6599855C>T - - CHD4_000010 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat2 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1409C>T r.(?) p.(Ser470Phe) Unknown - pathogenic (dominant) g.6709012G>A g.6599846G>A - - CHD4_000108 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat3 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.1442del r.(?) p.(Pro481GlnfsTer18) Paternal (confirmed) ACMG VUS g.6708980del g.6599814del - - CHD4_000090 inherited from father with psychiatric abnormality PubMed: Karimi 2025 - - Germline - - - - inconclusive episignature DNA arrayMET, SEQ, SEQ-NG - WES SIHIWES Pat23 PubMed: Karimi 2025 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.1454A>G r.(?) p.(Asn485Ser) Unknown - likely benign g.6708967T>C - - - CHD4_000035 - PubMed: Rauch 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - WES (trio) Healthy/Control Fam357 PubMed: Rauch 2012 controls M - - - - - - - 1 Johan den Dunnen
-?/. - c.1483-5C>T r.spl? p.? Unknown - likely benign g.6707596G>A g.6598430G>A CHD4(NM_001273.2):c.1483-5C>T (p.?) - CHD4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1486C>G r.(?) p.(Pro496Ala) Maternal (inferred) ACMG VUS g.6707588G>C g.6598422G>C [1486C>G;3862C>T] - CHD4_000073 - PubMed: Karimi 2025 - - Germline - - - - identifiable episignature DNA arrayMET, SEQ, SEQ-NG - WES SIHIWES Pat28 PubMed: Karimi 2025 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.1571A>C r.(?) p.(Asp524Ala) Unknown - likely benign g.6707503T>G g.6598337T>G CHD4(NM_001273.2):c.1571A>C (p.(Asp524Ala)) - CHD4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1671G>A r.(?) p.(Trp557Ter) Unknown ACMG VUS g.6707403C>T g.6598237C>T - - CHD4_000089 - PubMed: Karimi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES SIHIWES Pat29 PubMed: Karimi 2025 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.1686+3A>G r.spl? p.? Unknown - likely benign g.6707385T>C g.6598219T>C CHD4(NM_001273.5):c.1686+3A>G - CHD4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1714C>T r.(?) p.(Arg572Ter) Maternal (confirmed) ACMG VUS g.6707238G>A g.6598072G>A - - CHD4_000088 inherited from mother with reported learning difficulties and autistic features, carrier brother with moderateintellectual disability PubMed: Karimi 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SIHIWES Pat30 PubMed: Karimi 2025 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.1726C>T r.(?) p.(Arg576Trp) Unknown - VUS g.6707226G>A g.6598060G>A Arg576Trp - CHD4_000122 - PubMed: Van Jaarsveld 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - trio WES NDD SCZ1001;KDM2B_34 PubMed: Girard 2011, PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents - - Canada - - - - - 1 Johan den Dunnen
?/. - c.1742A>G r.(?) p.(Asp581Gly) Unknown - VUS g.6707210T>C - CHD4(NM_001273.2):c.1742A>G (p.(Asp581Gly)) - CHD4_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1848G>A r.(?) p.(=) Unknown - likely benign g.6707104C>T - CHD4(NM_001273.5):c.1848G>A (p.(Gly616=)) - CHD4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1876C>T r.(?) p.(Arg626Ter) Maternal (confirmed) ACMG VUS g.6707076G>A g.6597910G>A - - CHD4_000087 inherited from mother with reported learning difficulties no formal evaluation, depression, macrocephaly PubMed: Karimi 2025 - - Germline - - - - inconclusive episignature DNA arrayCGH, arrayMET, SEQ, SEQ-NG - WES SIHIWES Pat24 PubMed: Karimi 2025 - F - - - - - - - 1 Johan den Dunnen
?/. - c.1933C>T r.(?) p.(Arg645Trp) Unknown - VUS g.6705263G>A g.6596097G>A CHD4(NM_001273.2):c.1933C>T (p.(Arg645Trp)) - CHD4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1933C>T r.(?) p.(Arg645Trp) Unknown - pathogenic (dominant) g.6705263G>A g.6596097G>A - - CHD4_000024 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat4 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.2063A>G r.(?) p.(Lys688Arg) Unknown - VUS g.6704558T>C g.6595392T>C CHD4(NM_001273.5):c.2063A>G (p.K688R) - CHD4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2143C>T r.(?) p.(Gln715Ter) Unknown - pathogenic (dominant) g.6703795G>A g.6594629G>A - - CHD4_000107 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat5 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.2212C>T r.(?) p.(Arg738Cys) Unknown - VUS g.6703726G>A g.6594560G>A CHD4(NM_001273.5):c.2212C>T (p.R738C) - CHD4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2219_2221del r.(?) p.(Ser740del) Unknown - pathogenic (dominant) g.6703719_6703721del g.6594553_6594555del - - CHD4_000106 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat6 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.2320T>G r.(?) p.(Ser774Ala) Unknown - VUS g.6702776A>C - CHD4(NM_001273.5):c.2320T>G (p.(Ser774Ala)) - CHD4_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2430G>T r.(?) p.(Lys810Asn) Unknown - pathogenic (dominant) g.6702666C>A g.6593500C>A - - CHD4_000105 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat7 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.2438G>A r.(?) p.(Arg813His) Unknown - VUS g.6702658C>T g.6593492C>T CHD4(NM_001273.5):c.2438G>A (p.R813H) - CHD4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2467T>A r.(?) p.(Phe823Leu) Unknown - VUS g.6702629A>G g.6593463A>G NM_001273.5:c.2467A>G - CHD4_000069 - PubMed: Mansoorshahi 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CHD BAV328 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - 1 Johan den Dunnen
?/. - c.2507G>A r.(?) p.(Arg836His) Unknown ACMG VUS (!) g.6702589C>T - - - CHD4_000039 ACMG: PM1, PM2_SUP, PP2, PP3 - - - Germline ? - - - - DNA SEQ-NG-I - - SIHIWES 179137 - - M ? Bosnia and Herzegovina - - - - - 1 Andreas Laner
+/+? 17 c.2552C>A r.(?) p.(Ser851Tyr) Unknown - pathogenic g.6702357G>T g.6593191G>T - - CHD4_000009 - PubMed: Sifrim 2016, Journal: Sifrim 2016, OMIM:var0003 - rs886039916 De novo - - - - - DNA SEQ, SEQ-NG - - SIHIWES - PubMed: Sifrim 2016, Journal: Sifrim 2016 - F - - - - - - - 1 Johan den Dunnen
+/. - c.2552C>A r.(?) p.(Ser851Tyr) Unknown - pathogenic (dominant) g.6702357G>T g.6593191G>T - - CHD4_000009 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat8 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.2642A>G r.(?) p.(Asn881Ser) Unknown - VUS g.6702267T>C - CHD4(NM_001273.5):c.2642A>G (p.N881S) - CHD4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2659C>T r.(?) p.(Arg887Trp) Unknown - pathogenic (dominant) g.6701977G>A g.6592811G>A 2662delC (no C at 2662) - CHD4_000104 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat9 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.2662delC r.(?) p.(Val888TyrfsTer2) Unknown - pathogenic (dominant) g.6701976del g.6592810del - - CHD4_000103 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat10 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.2674T>G r.(?) p.(Tyr892Asp) Unknown - likely pathogenic g.6701962A>C - - - CHD4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2792dup r.(?) p.(Leu931Phefs*6) Unknown - VUS g.6701720dup - CHD4(NM_001273.5):c.2792dupT (p.L931Ffs*6) - CHD4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2860A>G r.(?) p.(Met954Val) Unknown ACMG pathogenic (dominant) g.6701647T>C g.6592481T>C - - CHD4_000070 - PubMed: Weiss 2020, PubMed: Karimi 2025 - - De novo - - - - no identifiable episignature DNA arrayMET, SEQ, SEQ-NG - WES SIHIWES Pat11;Pat10 PubMed: Weiss 2020, PubMed: Karimi 2025 - M - - - - - - - 1 Johan den Dunnen
+/. - c.2861T>C r.(?) p.(Met954Thr) Unknown ACMG pathogenic (dominant) g.6701646A>G g.6592480A>G - - CHD4_000086 - PubMed: Karimi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES SIHIWES Pat31 PubMed: Karimi 2025 - F - - - - - - - 1 Johan den Dunnen
+?/+? 19 c.2897T>A r.(?) p.(Met966Lys) Unknown - likely pathogenic g.6701610A>T g.6592444A>T - - CHD4_000006 - - - - De novo - - - - - DNA SEQ, SEQ-NG - - SIHIWES - - - - - Germany - - - - - 1 Karin Weiss
+/. - c.2897T>A r.(?) p.(Met966Lys) Unknown - pathogenic (dominant) g.6701610A>T g.6592444A>T - - CHD4_000006 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat12 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.2903C>T r.(?) p.(Ser968Phe) Paternal (confirmed) ACMG VUS g.6701604G>A g.6592438G>A - - CHD4_000085 inherited from father with similar facial features, aortic dilatation, myopia PubMed: Karimi 2025 - - Germline - - - - identifiable episignature DNA arrayMET, SEQ, SEQ-NG - WES SIHIWES Pat11 PubMed: Karimi 2025 - F - - - - - - - 1 Johan den Dunnen
+/. - c.2975G>A r.(?) p.(Arg992Gln) Unknown ACMG pathogenic (dominant) g.6701197C>T g.6592031C>T - - CHD4_000071 - PubMed: Karimi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES SIHIWES Pat32 PubMed: Karimi 2025 - M - - - - - - - 1 Johan den Dunnen
+/. - c.2975G>A r.(?) p.(Arg992Gln) Unknown ACMG pathogenic (dominant) g.6701197C>T g.6592031C>T - - CHD4_000071 - PubMed: Weiss 2020, PubMed: Karimi 2025 - - De novo - - - - identifiable episignature DNA arrayMET, SEQ, SEQ-NG - WES SIHIWES Pat13;Pat2 PubMed: Weiss 2020, PubMed: Karimi 2025 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.2986G>A r.(?) p.(Ala996Thr) Maternal (confirmed) ACMG likely pathogenic (!) g.6701186C>T g.6592020C>T - - CHD4_000084 inherited from mildly affected mother PubMed: Karimi 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SIHIWES Pat33 PubMed: Karimi 2025 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.2993A>G r.(?) p.(Asn998Ser) Unknown - likely benign g.6701179T>C g.6592013T>C - - CHD4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2998C>T r.(?) p.(Arg1000*) Unknown - likely benign g.6701174G>A - - - CHD4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 20 c.3008G>A r.(?) p.(Gly1003Asp) Unknown - pathogenic g.6701164C>T g.6591998C>T - - CHD4_000004 - PubMed: Weiss 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - SIHIWES - PubMed: Weiss 2016, Journal: Weiss 2016 - M - - - - - - - 1 Karin Weiss
+/. - c.3008G>A r.(?) p.(Gly1003Asp) Unknown - pathogenic (dominant) g.6701164C>T g.6591998C>T 3033_3034insCTGAATGTG - CHD4_000004 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat14 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 20 c.3025_3033del r.(?) p.(Leu1009_Val1011del) Unknown - pathogenic g.6701141_6701149del g.6591975_6591983del NC_000012.11:g.6701138delCATTCAGCA (Cys1012del/*) - CHD4_000011 variant description at DNA/protein do not match PubMed: Sifrim 2016, Journal: Sifrim 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - SIHIWES - PubMed: Sifrim 2016, Journal: Sifrim 2016 - M - - - - - - - 1 Johan den Dunnen
+/. - c.3025_3033dup r.(?) p.(Leu1009_Val1011dup) Unknown - pathogenic (dominant) g.6701141_6701149dup g.6591975_6591983dup - - CHD4_000102 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat15 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.3059A>G r.(?) p.(Asn1020Ser) Unknown - pathogenic (dominant) g.6701113T>C g.6591947T>C - - CHD4_000101 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat16 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/+? 21 c.3203G>A r.(?) p.(Arg1068His) Unknown - pathogenic g.6700879C>T g.6591713C>T - - CHD4_000008 - PubMed: Sifrim 2016, Journal: Sifrim 2016, OMIM:var0002 - rs886039915 De novo - - - - - DNA SEQ, SEQ-NG - - SIHIWES - PubMed: Sifrim 2016, Journal: Sifrim 2016 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.3203G>A r.(?) p.(Arg1068His) Unknown ACMG likely pathogenic (dominant) g.6700879C>T g.6591713C>T - - CHD4_000008 - PubMed: Karimi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES SIHIWES Pat34 PubMed: Karimi 2025 - M - - - - - - - 1 Johan den Dunnen
+/. - c.3203G>A r.(?) p.(Arg1068His) Unknown ACMG likely pathogenic (dominant) g.6700879C>T g.6591713C>T - - CHD4_000008 - PubMed: Karimi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES SIHIWES Pat35 PubMed: Karimi 2025 - F - - - - - - - 1 Johan den Dunnen
+/. - c.3203G>A r.(?) p.(Arg1068His) Unknown - pathogenic (dominant) g.6700879C>T g.6591713C>T - - CHD4_000008 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat17 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.3222+6_3222+7del r.(=) p.(=) Unknown - likely benign g.6700853_6700854del - CHD4(NM_001273.5):c.3222+6_3222+7delAT - CHD4_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3234dup r.(?) p.(Leu1079AlafsTer11) Unknown ACMG VUS g.6700738dup g.6591572dup - - CHD4_000083 - PubMed: Karimi 2025 - - Germline/De novo (untested) - - - - inconclusive episignature DNA arrayMET, SEQ, SEQ-NG - WES SIHIWES Pat26 PubMed: Karimi 2025 - M - - - - - - - 1 Johan den Dunnen
+/. - c.3280G>A r.(?) p.(Glu1094Lys) Unknown - pathogenic g.6700692C>T - CHD4(NM_001273.5):c.3280G>A (p.E1094K) - CHD4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3280G>A r.(?) p.(Glu1094Lys) Unknown ACMG pathogenic (dominant) g.6700692C>T g.6591526C>T - - CHD4_000053 - PubMed: Karimi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES SIHIWES Pat36 PubMed: Karimi 2025 - M - - - - - - - 1 Johan den Dunnen
+/. - c.3280G>A r.(?) p.(Glu1094Lys) Unknown ACMG pathogenic (dominant) g.6700692C>T g.6591526C>T - - CHD4_000053 - PubMed: Weiss 2020, PubMed: Karimi 2025 - - De novo - - - - identifiable episignature DNA arrayMET, SEQ, SEQ-NG - WES SIHIWES Pat18;Pat4 PubMed: Weiss 2020, PubMed: Karimi 2025 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.3283C>T r.(?) p.(Arg1095Cys) Unknown - likely pathogenic g.6700689G>A - - - CHD4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3283C>T r.(?) p.(Arg1095Cys) Unknown ACMG pathogenic (dominant) g.6700689G>A g.6591523G>A - - CHD4_000038 - PubMed: Karimi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES SIHIWES Pat37 PubMed: Karimi 2025 - M - - - - - - - 1 Johan den Dunnen
+/. - c.3326T>C r.(?) p.(Ile1109Thr) Unknown ACMG pathogenic (dominant) g.6700646A>G g.6591480A>G - - CHD4_000082 - PubMed: Karimi 2025 - - De novo - - - - identifiable episignature DNA arrayMET, SEQ, SEQ-NG - WES SIHIWES Pat5 PubMed: Karimi 2025 - F - - - - - - - 1 Johan den Dunnen
?/. - c.3338A>G r.(?) p.(Asn1113Ser) Unknown - VUS g.6700634T>C - CHD4(NM_001273.5):c.3338A>G (p.N1113S) - CHD4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3338A>T r.(?) p.(Asn1113Ile) Unknown ACMG likely pathogenic (dominant) g.6700634T>A g.6591468T>A - - CHD4_000081 - PubMed: Karimi 2025 - - Germline/De novo (untested) - - - - identifiable episignature DNA arrayMET, SEQ, SEQ-NG - WES SIHIWES Pat7 PubMed: Karimi 2025 - F - - - - - - - 1 Johan den Dunnen
+?/+? 23 c.3380G>A r.(?) p.(Arg1127Gln) Unknown - likely pathogenic g.6697549C>T g.6588383C>T - - CHD4_000001 - PubMed: Weiss 2016, Journal: Weiss 2016, OMIM:var0004 - rs886039917 De novo - - - - - DNA SEQ-NG - - SIHIWES - PubMed: Weiss 2016 - M - - - - - - - 1 Karin Weiss
+?/+? 23 c.3380G>A r.(?) p.(Arg1127Gln) Unknown - likely pathogenic g.6697549C>T g.6588383C>T - - CHD4_000001 - PubMed: Weiss 2016, Journal: Weiss 2016, OMIM:var0004 - rs886039917 De novo - - - - - DNA SEQ, SEQ-NG - - SIHIWES - PubMed: Weiss 2016, Journal: Weiss 2016 - M - - - - - - - 1 Karin Weiss
+/. - c.3380G>A r.(?) p.(Arg1127Gln) Unknown - pathogenic g.6697549C>T - CHD4(NM_001273.5):c.3380G>A (p.R1127Q) - CHD4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3380G>A r.(?) p.(Arg1127Gln) Unknown ACMG pathogenic (dominant) g.6697549C>T g.6588383C>T - - CHD4_000001 - PubMed: Weiss 2020, PubMed: Karimi 2025 - - De novo - - - - identifiable episignature DNA arrayMET, SEQ, SEQ-NG - WES SIHIWES Pat19;Pat8 PubMed: Weiss 2020, PubMed: Karimi 2025 - M - - - - - - - 1 Johan den Dunnen
+/. - c.3380G>A r.(?) p.(Arg1127Gln) Unknown - pathogenic (dominant) g.6697549C>T g.6588383C>T - - CHD4_000001 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat20 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.3383C>T r.(?) p.(Ala1128Val) Unknown - likely pathogenic g.6697546G>A - - - CHD4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3401A>G r.(?) p.(Asn1134Ser) Unknown ACMG likely pathogenic (dominant) g.6697528T>C g.6588362T>C - - CHD4_000080 - PubMed: Karimi 2025 - - Germline/De novo (untested) - - - - identifiable episignature DNA arrayMET, SEQ, SEQ-NG - WES SIHIWES Pat9 PubMed: Karimi 2025 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.3403C>G r.(?) p.(Leu1135Val) Unknown ACMG likely pathogenic (dominant) g.6697526G>C g.6588360G>C - - CHD4_000079 - PubMed: Karimi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - WES SIHIWES Pat38 PubMed: Karimi 2025 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.3441C>G r.(?) p.(Asp1147Glu) Unknown - likely pathogenic g.6697488G>C - - - CHD4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3441C>G r.(?) p.(Asp1147Glu) Unknown - pathogenic (dominant) g.6697488G>C g.6588322G>C - - CHD4_000031 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat21 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/+ 23 c.3443G>T r.(?) p.(Trp1148Leu) Unknown - pathogenic g.6697486C>A g.6588320C>A - - CHD4_000003 - PubMed: Weiss 2016, Journal: Weiss 2016, OMIM:var0006 - rs886039919 De novo - - - - - DNA SEQ, SEQ-NG - - SIHIWES - PubMed: Weiss 2016, Journal: Weiss 2016 - F - - - - - - - 1 Karin Weiss
+/. - c.3443G>T r.(?) p.(Trp1148Leu) Unknown - pathogenic (dominant) g.6697486C>A g.6588320C>A - - CHD4_000003 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat22 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.3517C>T r.(?) p.(Arg1173Trp) Unknown - likely pathogenic g.6697064G>A - CHD4(NM_001273.5):c.3517C>T (p.(Arg1173Trp)) - CHD4_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 24 c.3518G>A r.(?) p.(Arg1173Gln) Unknown - likely pathogenic g.6697063C>T g.6587897C>T - - CHD4_000005 - - - - De novo - - - - - DNA SEQ, SEQ-NG - - SIHIWES - - - - - Germany - - - - - 1 Karin Weiss
+/. - c.3518G>A r.(?) p.(Arg1173Gln) Paternal (confirmed) ACMG pathogenic (!) g.6697063C>T g.6587897C>T - - CHD4_000005 inherited from apparately unaffected father PubMed: Karimi 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SIHIWES Pat39 PubMed: Karimi 2025 - M - - - - - - - 1 Johan den Dunnen
+/. - c.3518G>A r.(?) p.(Arg1173Gln) Unknown - pathogenic (dominant) g.6697063C>T g.6587897C>T - - CHD4_000005 - PubMed: Weiss 2020 - - De novo - - - - - DNA SEQ-NG - - NDD Pat24 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+?/+? 24 c.3518G>T r.(?) p.(Arg1173Leu) Unknown - likely pathogenic g.6697063C>A g.6587897C>A - - CHD4_000002 - PubMed: Weiss 2016, Journal: Weiss 2016, OMIM:var0005 - rs886039918 De novo - - - - - DNA SEQ-NG - - SIHIWES - PubMed: Weiss 2016 - F - - - - - - - 1 Karin Weiss
+?/. - c.3518G>T r.(?) p.(Arg1173Leu) Unknown - pathogenic g.6697063C>A - - - CHD4_000002 - PubMed: Monroe 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Pat14 PubMed: Monroe 2016 - F - Netherlands - - - - - 1 Johan den Dunnen
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