Full data view for gene CHD3

Information The variants shown are described using the NM_001005273.2 transcript reference sequence.

163 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
+/. _1_40_ c.-150_*1172[0] r.0 p.0 Unknown - pathogenic (dominant) g.(?_7394419)_(7871060_?)del - - - CHD3_000033 - - - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Subject 22 - - F - United States - - - - - 1 Dong Li
+/. _1_40_ c.-150_*1172[0] r.(=) p.(=) Paternal (inferred) - pathogenic (dominant) g.(?_7398909)_(7962160_?)dup - - - CHD3_000033 presumed inherited from affected father - - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Subject 23 - - F - United States - - - - - 1 Dong Li
-?/. - c.-4158_-4153dup r.(?) p.(=) Unknown - likely benign g.7788161_7788166dup - CHD3(NM_001005271.3):c.37_42dup (p.(Glu13_Glu14dup)) - CHD3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4082C>A r.(?) p.(=) Unknown - likely benign g.7788237C>A - CHD3(NM_001005271.2):c.113C>A (p.(Ala38Glu)) - CHD3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4032G>C r.(?) p.(=) Unknown - likely benign g.7788287G>C g.7884969G>C CHD3(NM_001005271.2):c.163G>C (p.G55R) - CHD3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4016G>A r.(?) p.(=) Unknown - VUS g.7788303G>A - CHD3(NM_001005271.3):c.179G>A (p.(Arg60Gln)) - CHD3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3981C>T r.(?) p.(=) Unknown - likely benign g.7788338C>T - CHD3(NM_001005271.2):c.214C>T (p.(Leu72Phe)) - CHD3_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3962C>T r.(?) p.(=) Unknown - likely benign g.7788357C>T - CHD3(NM_001005271.2):c.233C>T (p.(Pro78Leu)) - CHD3_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3961_-3953del r.(?) p.(=) Unknown - likely benign g.7788358_7788366del g.7885040_7885048del CHD3(NM_001005271.3):c.234_242del (p.(Pro80_Pro82del)) - CHD3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3955_-3953dup r.(?) p.(=) Unknown - benign g.7788364_7788366dup g.7885046_7885048dup CHD3(NM_001005271.2):c.240_242dupGCC (p.P82dup), CHD3(NM_001005271.3):c.240_242dupGCC (p.P82dup) - CHD3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3955_-3953dup r.(?) p.(=) Unknown - benign g.7788364_7788366dup - CHD3(NM_001005271.2):c.240_242dupGCC (p.P82dup), CHD3(NM_001005271.3):c.240_242dupGCC (p.P82dup) - CHD3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3950_-3949insCCC r.(?) p.(=) Unknown - VUS g.7788369_7788370insCCC - CHD3(NM_001005271.3):c.245_246insCCC (p.(Pro82dup)) - CHD3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3944C>T r.(?) p.(=) Unknown - likely benign g.7788375C>T g.7885057C>T CHD3(NM_001005271.2):c.251C>T (p.P84L) - CHD3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3943_-3935del r.(?) p.(=) Unknown - VUS g.7788376_7788384del g.7885058_7885066del CHD3(NM_001005271.2):c.249_257del (p.(Pro90_Pro92del)) - CHD3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.81T>A r.(?) p.(Cys27*) Unknown - VUS g.7792399T>A - CHD3(NM_001005273.2):c.81T>A (p.C27*) - CHD3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.125C>T r.(?) p.(Pro42Leu) Unknown - VUS g.7793006C>T - CHD3(NM_001005271.3):c.302C>T (p.P101L) - CHD3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.175G>A r.(?) p.(Glu59Lys) Unknown - VUS g.7793056G>A - CHD3(NM_001005273.2):c.175G>A (p.(Glu59Lys)) - CHD3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.241C>G r.(?) p.(Arg81Gly) Unknown - likely benign g.7793916C>G - CHD3(NM_001005273.3):c.241C>G (p.(Arg81Gly)) - CHD3_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.241C>T r.(?) p.(Arg81*) Unknown - likely benign g.7793916C>T - CHD3(NM_001005273.2):c.241C>T (p.(Arg81*)) - CHD3_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.308G>A r.(?) p.(Arg103Gln) Unknown - VUS g.7793983G>A - CHD3(NM_001005271.3):c.485G>A (p.R162Q) - CHD3_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.722C>T r.(?) p.(Ala241Val) Unknown - VUS g.7796816C>T - CHD3(NM_001005271.3):c.899C>T (p.A300V) - CHD3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.793+4G>A r.spl? p.? Unknown - likely benign g.7796891G>A - CHD3(NM_001005271.3):c.970+4G>A - CHD3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.812G>A r.(?) p.(Arg271Gln) Unknown - VUS g.7797141G>A - CHD3(NM_001005271.3):c.989G>A (p.R330Q) - CHD3_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.842G>A r.(?) p.(Arg281His) Unknown - likely benign g.7797171G>A - CHD3(NM_001005273.3):c.842G>A (p.(Arg281His)) - CHD3_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.924G>A r.(?) p.(=) Unknown - VUS g.7797253G>A - CHD3(NM_001005273.2):c.924G>A (p.(Ser308Ser)) - CHD3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.977T>C r.(?) p.(Leu326Pro) Unknown - VUS g.7797485T>C - CHD3(NM_001005273.3):c.977T>C (p.(Leu326Pro)) - CHD3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1099G>A r.(?) p.(Gly367Arg) Unknown - VUS g.7797756G>A - CHD3(NM_001005273.3):c.1099G>A (p.(Gly367Arg)) - CHD3_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1301A>G r.(?) p.(Glu434Gly) Unknown - VUS g.7798266A>G - CHD3(NM_001005271.3):c.1478A>G (p.E493G) - CHD3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1325_1327del r.(?) p.(Glu442del) Unknown - VUS g.7798290_7798292del - CHD3(NM_001005273.3):c.1325_1327del (p.(Glu442del)) - CHD3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1369G>T r.(?) p.(Glu457*) Unknown - pathogenic (dominant) g.7798334G>T g.7895016G>T - - CHD3_000050 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Snijders Blok 2018 - M - - - - - - - 1 Johan den Dunnen
?/. - c.1373A>T r.(?) p.(Tyr458Phe) Unknown - VUS g.7798338A>T g.7895020A>T CHD3(NM_001005271.3):c.1550A>T (p.Y517F) - CHD3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1378C>T r.(?) p.(Arg460Cys) Unknown - VUS g.7798343C>T - CHD3(NM_001005273.2):c.1378C>T (p.(Arg460Cys)) - CHD3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1384del r.(?) p.(Cys462Alafs*22) Unknown - pathogenic (dominant) g.7798349del g.7895031del - - CHD3_000034 parents unavailable for testing - - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? Subject 19 - - M - United States - - - - - 1 Dong Li
?/. - c.1430C>T r.(?) p.(Ser477Phe) Unknown - VUS g.7798395C>T g.7895077C>T CHD3(NM_001005271.3):c.1607C>T (p.S536F) - CHD3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1503+3G>A r.spl? p.? Unknown - likely benign g.7798471G>A g.7895153G>A CHD3(NM_001005271.2):c.1680+3G>A - CHD3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1618dup r.(?) p.(Arg540Profs*47) Unknown - pathogenic (dominant) g.7798771dup g.7895453dup 1618dupC - CHD3_000035 parents unavailable for testing - - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? Subject 20 - - M - United States - - - - - 1 Dong Li
+?/. - c.1706A>G r.(?) p.(Gln569Arg) Unknown - pathogenic (dominant) g.7798859A>G g.7895541A>G - - CHD3_000031 - - - - Germline - - - - - DNA SEQ-NG - - ? Fam1Pat1 - family, 2 affected M - United States - - - - - 2 Dong Li
+/. - c.1706A>G r.(?) p.(Gln569Arg) Unknown - pathogenic (dominant) g.7798859A>G g.7895541A>G - - CHD3_000031 - - - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Fam1Pat2 - - M - United States - - - - - 1 Dong Li
?/. - c.1748G>A r.(?) p.(Arg583Gln) Unknown ACMG VUS (!) g.7800441G>A - - - CHD3_000096 ACMG: PS2_MOD, PM2_SUP, PP2; confirmed de novo in trio exome - - - De novo - - - - - DNA SEQ-NG-I blood - SNIBCPS 247631 - - M no Germany - - - - - 1 Andreas Laner
?/. - c.1888T>C r.(?) p.(Trp630Arg) Unknown - VUS g.7800581T>C - CHD3(NM_001005271.2):c.2065T>C (p.W689R) - CHD3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1900C>T r.(?) p.(His634Tyr) Unknown - VUS g.7800593C>T - CHD3(NM_001005273.3):c.1900C>T (p.(His634Tyr)) - CHD3_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2075C>T r.(?) p.(Pro692Leu) Unknown - VUS g.7801837C>T - CHD3(NM_001005273.2):c.2075C>T (p.(Pro692Leu)) - CHD3_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2084C>T r.(?) p.(Pro695Leu) Unknown - VUS g.7801846C>T - - - CHD3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2193C>T r.(?) p.(Ala731=) Unknown - likely benign g.7802370C>T g.7899052C>T CHD3(NM_001005271.2):c.2370C>T (p.A790=) - CHD3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2260G>A r.(?) p.(Gly754Ser) Unknown - VUS g.7802437G>A - - - CHD3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.2288T>C r.(?) p.(Met763Thr) Unknown ACMG likely pathogenic g.7802465T>C g.7899147T>C - - CHD3_000140 - - ClinVar-4086072 - De novo - - - - - DNA SEQ-NG-I peripheral blood WES NDD - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
-?/. - c.2327A>G r.(?) p.(Tyr776Cys) Unknown - likely benign g.7802504A>G - CHD3(NM_001005271.3):c.2504A>G (p.Y835C) - CHD3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2344-3C>T r.spl? p.? Unknown - likely benign g.7802658C>T - CHD3(NM_001005271.3):c.2521-3C>T - CHD3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2422G>T r.(?) p.(Ala808Ser) Unknown - VUS g.7802739G>T - CHD3(NM_001005271.3):c.2599G>T (p.A867S) - CHD3_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 16 c.2653G>A r.(?) p.(Ala885Thr) Unknown ACMG likely pathogenic g.7803322G>A g.7900004G>A - - CHD3_000133 - - ClinVar-3780969 - De novo - - - - - DNA SEQ-NG-I peripheral blood WES NDD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. - c.2657A>G r.(?) p.(His886Arg) Unknown - pathogenic (dominant) g.7803326A>G g.7900008A>G - - CHD3_000032 - - - - De novo - - - - - DNA SEQ-NG - - ? Subject 2 - - M - United States - - - - - 1 Dong Li
+/. - c.2657A>G r.(?) p.(His886Arg) Unknown - pathogenic (dominant) g.7803326A>G g.7900008A>G - - CHD3_000032 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Snijders Blok 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.2745G>T r.(?) p.(Leu915Phe) Unknown - pathogenic (dominant) g.7803670G>T g.7900352G>T - - CHD3_000051 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Snijders Blok 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.2749A>T r.(?) p.(Asn917Tyr) Unknown - pathogenic (dominant) g.7803674A>T g.7900356A>T - - CHD3_000036 - - - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Subject 3 - - M - United States - - - - - 1 Dong Li
+/. - c.2761G>A r.(?) p.(Glu921Lys) Unknown - pathogenic (dominant) g.7803686G>A g.7900368G>A - - CHD3_000052 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Snijders Blok 2018 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.2771A>G r.(?) p.(His924Arg) Unknown - likely pathogenic g.7803696A>G - - - CHD3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2831T>A r.(?) p.(Phe944Tyr) Unknown - pathogenic (dominant) g.7803902T>A g.7900584T>A - - CHD3_000037 de novo mosaic - - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Subject 4 - - F - United States - - - - - 1 Dong Li
+/. - c.2842T>C r.(?) p.(Ser948Pro) Unknown - pathogenic (dominant) g.7803913T>C g.7900595T>C - - CHD3_000017 - - - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Subject 5 - - F - United States - - - - - 1 Dong Li
+?/. - c.2842T>C r.(?) p.(Ser948Pro) Unknown - likely pathogenic g.7803913T>C - CHD3(NM_001005271.3):c.3019T>C (p.S1007P) - CHD3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2882G>A r.(?) p.(Gly961Glu) Unknown - VUS g.7803953G>A g.7900635G>A - - CHD3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2882G>A r.(?) p.(Gly961Glu) Unknown - pathogenic (dominant) g.7803953G>A g.7900635G>A - - CHD3_000005 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 PubMed: Snijders Blok 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.2896C>T r.(?) p.(Arg966Trp) Unknown - pathogenic (dominant) g.7803967C>T g.7900649C>T - - CHD3_000038 - - - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Subject 6 - - F - United States - - - - - 1 Dong Li
+/. - c.2896C>T r.(?) p.(Arg966Trp) Unknown - pathogenic (dominant) g.7803967C>T g.7900649C>T - - CHD3_000038 - - - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Subject 7 - - M - United States - - - - - 1 Dong Li
+/. - c.2896C>T r.(?) p.(Arg966Trp) Unknown - pathogenic (dominant) g.7803967C>T g.7900649C>T - - CHD3_000038 - - - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Subject 8 - - M - United States - - - - - 1 Dong Li
+/. - c.2897G>A r.(?) p.(Arg966Gln) Unknown - pathogenic g.7803968G>A g.7900650G>A - - CHD3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2897G>C r.(?) p.(Arg966Pro) Unknown - pathogenic (dominant) g.7803968G>C g.7900650G>C - - CHD3_000039 - - - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Subject 9 - - F - United States - - - - - 1 Dong Li
+?/. - c.2897G>T r.(?) p.(Arg966Leu) Unknown - likely pathogenic g.7803968G>T - - - CHD3_000132 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2905A>G r.(?) p.(Lys969Glu) Unknown - pathogenic (dominant) g.7803976A>G g.7900658A>G - - CHD3_000040 - - - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Subject 10 - - F - United States - - - - - 1 Dong Li
+/. - c.2953C>T r.(?) p.(Arg985Trp) Unknown - pathogenic (dominant) g.7804024C>T g.7900706C>T - - CHD3_000053 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat6 PubMed: Snijders Blok 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.2953C>T r.(?) p.(Arg985Trp) Unknown - pathogenic (dominant) g.7804024C>T g.7900706C>T - - CHD3_000053 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: Snijders Blok 2018 2-generation family, affected sister/brother (mother mosaic) F - - - - - - - 2 Johan den Dunnen
+/. - c.2953C>T r.(?) p.(Arg985Trp) Maternal (confirmed) - pathogenic (dominant) g.7804024C>T g.7900706C>T - - CHD3_000053 mother mosaic PubMed: Snijders Blok 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat8 PubMed: Snijders Blok 2018 brother M - - - - - - - 1 Johan den Dunnen
+/. - c.2953C>T r.(?) p.(Arg985Trp) Maternal (confirmed) - pathogenic (dominant) g.7804024C>T g.7900706C>T - - CHD3_000053 mother mosaic PubMed: Snijders Blok 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat9 PubMed: Snijders Blok 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.2953C>T r.(?) p.(Arg985Trp) Unknown - pathogenic (dominant) g.7804024C>T g.7900706C>T - - CHD3_000053 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat10 PubMed: Snijders Blok 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.2953C>T r.(?) p.(Arg985Trp) Unknown - pathogenic (dominant) g.7804024C>T g.7900706C>T - - CHD3_000053 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat11 PubMed: Snijders Blok 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.2953C>T r.(?) p.(Arg985Trp) Unknown - pathogenic g.7804024C>T g.7900706C>T - - CHD3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2954G>A r.(?) p.(Arg985Gln) Unknown - pathogenic (dominant) g.7804025G>A g.7900707G>A - - CHD3_000054 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat12 PubMed: Snijders Blok 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.2954G>A r.(?) p.(Arg985Gln) Unknown - pathogenic (dominant) g.7804025G>A g.7900707G>A - - CHD3_000054 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat13 PubMed: Snijders Blok 2018 - M - - - - - - - 1 Johan den Dunnen
?/. - c.3005G>C r.(?) p.(Arg1002Pro) Unknown - VUS g.7804196G>C g.7900878G>C CHD3(NM_001005271.3):c.3182G>C (p.R1061P) - CHD3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3061A>T r.(?) p.(Ile1021Phe) Unknown - likely pathogenic g.7804252A>T - CHD3(NM_001005273.3):c.3061A>T (p.I1021F) - CHD3_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3171G>C r.(?) p.(Lys1057Asn) Parent #1 - VUS g.7804612G>C - 3348G>C (Lys1116Asn) - CHD3_000086 - PubMed: Olivier 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES RP FamA PubMed: Olivier 2021 4-generation family, 12 affected (8F, 4M) F;M - France - - - - - 12 Johan den Dunnen
+?/. - c.3206T>C r.(?) p.(Leu1069Pro) Unknown - likely pathogenic g.7804647T>C g.7901329T>C - - CHD3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3217A>C r.(?) p.(Lys1073Gln) Unknown - VUS g.7804658A>C - - - CHD3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3239T>A r.(?) p.(Leu1080His) Unknown - pathogenic (dominant) g.7804680T>A g.7901362T>A - - CHD3_000041 - - - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Subject 11 - - F - United States - - - - - 1 Dong Li
+?/. - c.3319G>A r.(?) p.(Asp1107Asn) Unknown - likely pathogenic g.7805994G>A - - - CHD3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3325_3327del r.(?) p.(Gly1109del) Unknown - pathogenic (dominant) g.7806000_7806002del g.7902682_7902684del - - CHD3_000055 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat14 PubMed: Snijders Blok 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.3357_3358delinsTC r.(?) p.(Asp1120His) Unknown - pathogenic (dominant) g.7806032_7806033delinsTC g.7902714_7902715delinsTC - - CHD3_000056 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat15 PubMed: Snijders Blok 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.3362G>C r.(?) p.(Arg1121Pro) Unknown - pathogenic (dominant) g.7806037G>C g.7902719G>C - - CHD3_000057 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat16 PubMed: Snijders Blok 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.3407C>T r.(?) p.(Thr1136Ile) Unknown - pathogenic (dominant) g.7806291C>T g.7902973C>T - - CHD3_000058 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat17 PubMed: Snijders Blok 2018 - M - - - - - - - 1 Johan den Dunnen
?/. - c.3409C>T r.(?) p.(Arg1137Ter) Unknown - VUS g.7806293C>T - CHD3(NM_001005271.2):c.3586C>T (p.R1196*) - CHD3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3472T>C r.(?) p.(Trp1158Arg) Unknown - pathogenic (dominant) g.7806356T>C g.7903038T>C - - CHD3_000059 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat18 PubMed: Snijders Blok 2018 - F - - - - - - - 1 Johan den Dunnen
?/. - c.3473G>A r.(?) p.(Trp1158Ter) Unknown - VUS g.7806357G>A g.7903039G>A - - CHD3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3477C>A r.(?) p.(Asn1159Lys) Unknown - pathogenic (dominant) g.7806361C>A g.7903043C>A - - CHD3_000060 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat19 PubMed: Snijders Blok 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.3482A>G r.(?) p.(His1161Arg) Unknown - pathogenic (dominant) g.7806366A>G g.7903048A>G - - CHD3_000061 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat20 PubMed: Snijders Blok 2018 2-generation family, affected twin sisters F - - - - - - - 2 Johan den Dunnen
+/. - c.3482A>G r.(?) p.(His1161Arg) Unknown - pathogenic (dominant) g.7806366A>G g.7903048A>G - - CHD3_000061 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat21 PubMed: Snijders Blok 2018 twin sister F - - - - - - - 1 Johan den Dunnen
+?/. - c.3488A>T r.(?) p.(Asp1163Val) Unknown - likely pathogenic g.7806372A>T g.7903054A>T CHD3(NM_001005271.3):c.3665A>T (p.D1222V) - CHD3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3505C>T r.(?) p.(Arg1169Trp) Unknown - pathogenic (dominant) g.7806599C>T g.7903281C>T - - CHD3_000062 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat22 PubMed: Snijders Blok 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.3505C>T r.(?) p.(Arg1169Trp) Unknown - pathogenic (dominant) g.7806599C>T g.7903281C>T - - CHD3_000062 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat23 PubMed: Snijders Blok 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.3505C>T r.(?) p.(Arg1169Trp) Unknown - pathogenic (dominant) g.7806599C>T g.7903281C>T - - CHD3_000062 - PubMed: Snijders Blok 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat24 PubMed: Snijders Blok 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.3505C>T r.(?) p.(Arg1169Trp) Unknown - pathogenic g.7806599C>T g.7903281C>T NM_001005271.2:c.3682C>T - CHD3_000062 - PubMed: Eising 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS SPCH Pat01/Pat8 PubMed: Eising 2018, PubMed: Worthey 2013 analysis 19 individuals with childhood apraxia of speech M - - - - - - - 1 Johan den Dunnen
+/. - c.3505C>T r.(?) p.(Arg1169Trp) Unknown - pathogenic g.7806599C>T - - - CHD3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.