Full data view for gene ZNF292

Information The variants shown are described using the NM_015021.1 transcript reference sequence.

181 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.19G>T r.(?) p.(Glu7Ter) Unknown - VUS g.87865328G>T - - - ZNF292_000123 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.40G>A r.(?) p.(Gly14Ser) Unknown - likely benign g.87865349G>A - ZNF292(NM_015021.1):c.40G>A (p.(Gly14Ser)) - ZNF292_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.62A>G r.(?) p.(Glu21Gly) Unknown - likely benign g.87865371A>G - ZNF292(NM_015021.1):c.62A>G (p.(Glu21Gly)) - ZNF292_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.169-196C>A r.(=) p.(=) Unknown - likely benign g.87925425C>A - ZNF292(NM_015021.3):c.169-196C>A - ZNF292_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.265C>T r.(?) p.(Arg89Ter) Unknown - pathogenic (dominant) g.87925717C>T g.87215999C>T - - chr6_008335 - PubMed: Mirzaa 2020 - rs865909396 De novo - - - - - DNA SEQ, SEQ-NG - gene panel NDD 17-001 PubMed: Mirzaa 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States Europe-N - - - - 1 Johan den Dunnen
+?/. - c.265C>T r.(?) p.(Arg89Ter) Unknown - likely pathogenic (dominant) g.87925717C>T g.87215999C>T - - chr6_008335 - PubMed: De Rubeis 2014 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? - PubMed: De Rubeis 2014 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. 8 c.433del r.(?) p.(Ser145AlafsTer7) Unknown - pathogenic (dominant) g.87928344del g.87218626del - - chr6_008336 - PubMed: Mirzaa 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD 17-027 PubMed: Mirzaa 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States Europe-N - - - - 1 Johan den Dunnen
-?/. - c.463G>A r.(?) p.(Ala155Thr) Unknown - likely benign g.87928374G>A - ZNF292(NM_015021.1):c.463G>A (p.(Ala155Thr)) - ZNF292_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.515A>G r.(?) p.(Gln172Arg) Unknown - likely benign g.87928426A>G - ZNF292(NM_015021.3):c.515A>G (p.Q172R) - ZNF292_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.711A>G r.(?) p.(Thr237=) Unknown - likely benign g.87943215A>G g.87233497A>G ZNF292(NM_015021.2):c.711A>G (p.T237=) - ZNF292_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.776T>C r.(?) p.(Met259Thr) Unknown - likely benign g.87953227T>C - - - ZNF292_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.792A>T r.(?) p.(Glu264Asp) Unknown - VUS g.87953243A>T - ZNF292(NM_015021.1):c.792A>T (p.(Glu264Asp)) - ZNF292_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.847C>T r.(?) p.(Gln283*) Unknown - likely pathogenic g.87953298C>T - ZNF292(NM_001351444.2):c.427C>T (p.Q143*) - ZNF292_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.871T>G r.(?) p.(Cys291Gly) Unknown - likely benign g.87953322T>G g.87243604T>G ZNF292(NM_015021.1):c.871T>G (p.(Cys291Gly)), ZNF292(NM_015021.3):c.871T>G (p.C291G) - ZNF292_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.871T>G r.(?) p.(Cys291Gly) Unknown - likely benign g.87953322T>G - ZNF292(NM_015021.1):c.871T>G (p.(Cys291Gly)), ZNF292(NM_015021.3):c.871T>G (p.C291G) - ZNF292_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.953G>A r.(?) p.(Arg318His) Unknown - VUS g.87955295G>A - ZNF292(NM_015021.1):c.953G>A (p.(Arg318His)) - ZNF292_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.978A>G r.(?) p.(=) Unknown - likely benign g.87955320A>G - ZNF292(NM_015021.3):c.978A>G (p.(Thr326=)) - ZNF292_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1021-426A>T r.(=) p.(=) Unknown - likely benign g.87963942A>T - ZNF292(NM_015021.3):c.1021-426A>T - ZNF292_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1072C>T r.(?) p.(Arg358Cys) Unknown - likely pathogenic (dominant) g.87964419C>T g.87254701C>T - - chr6_008368 - PubMed: DDDS 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD - PubMed: DDDS 2017 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. 8 c.1160del r.(?) p.(Arg387LeufsTer5) Unknown - pathogenic (dominant) g.87964507del g.87254789del - - chr6_008337 - PubMed: Mirzaa 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD 19-010 PubMed: Mirzaa 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Germany Europe-N - - - - 1 Johan den Dunnen
?/. - c.1226T>C r.(?) p.(Leu409Ser) Unknown - VUS g.87964573T>C - - - ZNF292_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1285C>T r.(?) p.(Arg429Cys) Unknown - VUS g.87964632C>T - - - ZNF292_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1330C>T r.(?) p.(Pro444Ser) Unknown - VUS g.87964677C>T - ZNF292(NM_015021.1):c.1330C>T (p.(Pro444Ser)) - ZNF292_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1360C>T r.1360C>T p.Arg454Ter Unknown - pathogenic (dominant) g.87964707C>T g.87254989C>T - - chr6_008338 - PubMed: Mirzaa 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD 19-011 PubMed: Mirzaa 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Germany Europe-N - - - - 1 Johan den Dunnen
?/. - c.1384G>A r.(?) p.(Glu462Lys) Unknown - VUS g.87964731G>A - ZNF292(NM_015021.3):c.1384G>A (p.(Glu462Lys)) - ZNF292_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.1408A>G r.(?) p.(Ile470Val) Unknown - VUS g.87964755A>G g.87255037A>G - - chr6_008357 - PubMed: Mirzaa 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD 17-002 PubMed: Mirzaa 2020 2-generation family, 1 affected, unaffected non-carrier parents - - United States - - - - - 1 Johan den Dunnen
?/. - c.1466G>C r.(?) p.(Ser489Thr) Unknown - VUS g.87964813G>C - ZNF292(NM_015021.1):c.1466G>C (p.(Ser489Thr)) - ZNF292_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.1533del r.(?) p.(Ile511Metfs*11) Unknown - pathogenic (dominant) g.87964880del g.87255162del - - ZNF292_000127 - - - - De novo - - - - - DNA SEQ-NG - - MRD64 - - - M - - - - - - - 1 Yaping Shen
+?/. - c.1558_1561del r.(?) p.(Glu520*) Unknown - likely pathogenic g.87964905_87964908del - ZNF292(NM_001351444.2):c.1138_1141delGAGA (p.E380*) - ZNF292_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1567C>T r.(?) p.(Gln523Ter) Unknown - pathogenic (dominant) g.87964914C>T g.87255196C>T - - chr6_008339 - PubMed: Mirzaa 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD 17-003 PubMed: Mirzaa 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States Europe-N - - - - 1 Johan den Dunnen
+?/. - c.1760_1761del r.(?) p.(His587Argfs*6) Unknown - likely pathogenic g.87965107_87965108del - ZNF292(NM_015021.1):c.1760_1761delAT (p.(His587fs)) - ZNF292_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1796_1797del r.(?) p.(Arg599Thrfs*21) Unknown - pathogenic g.87965143_87965144del - ZNF292(NM_015021.3):c.1796_1797delGA (p.R599Tfs*21) - ZNF292_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.1858G>T r.(?) p.(Glu620Ter) Unknown - VUS g.87965205G>T g.87255487G>T - - chr6_008358 not paternally inherited PubMed: Mirzaa 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD 17-028 PubMed: Mirzaa 2020 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.1861_1862del r.(?) p.(Asn621SerfsTer4) Unknown - likely pathogenic g.87965208_87965209del - - - ZNF292_000101 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.1897C>T r.(?) p.(Arg633Ter) Paternal (confirmed) - VUS g.87965244C>T g.87255526C>T - - chr6_008359 - PubMed: Mirzaa 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel NDD 17-025 PubMed: Mirzaa 2020 - - - - - - - - - 1 Johan den Dunnen
?/. 8 c.1910delA r.(?) p.(Lys637ArgfsTer10) Unknown - VUS g.87965257del g.87255539del 1910delA - chr6_008360 - PubMed: Mirzaa 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD 17-026 PubMed: Mirzaa 2020 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.2023C>A r.(?) p.(Pro675Thr) Unknown - VUS g.87965370C>A - - - ZNF292_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2068A>C r.(?) p.(Lys690Gln) Unknown - VUS g.87965415A>C - ZNF292(NM_015021.3):c.2068A>C (p.(Lys690Gln)) - ZNF292_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2117A>T r.(?) p.(Lys706Ile) Unknown - VUS g.87965464A>T g.87255746A>T - - ZNF292_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.2170del r.(?) p.(Cys724AlafsTer9) Unknown - pathogenic (dominant) g.87965517del g.87255799del - - chr6_008340 - PubMed: Mirzaa 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD 19-013 PubMed: Mirzaa 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Netherlands Europe-N - - - - 1 Johan den Dunnen
?/. - c.2186G>A r.(?) p.(Arg729Gln) Unknown - VUS g.87965533G>A - ZNF292(NM_015021.1):c.2186G>A (p.(Arg729Gln)) - ZNF292_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2188C>T r.(?) p.(His730Tyr) Unknown - VUS g.87965535C>T - ZNF292(NM_015021.3):c.2188C>T (p.H730Y) - ZNF292_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2213A>G r.(?) p.(Asn738Ser) Unknown - likely benign g.87965560A>G - ZNF292(NM_015021.1):c.2213A>G (p.(Asn738Ser)) - ZNF292_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.2325del r.(?) p.(Val776Serfs*82) Unknown ACMG VUS g.87965672del g.87255954del - - ZNF292_000117 ACMG: PVS1_strong, PM2_supporting - - - Germline ? - - - - DNA SEQ-NG-I Blood - MRD64 356839 - - M no Germany - - - - - 1 Andreas Laner
?/. - c.2380del r.(?) p.(Tyr794IlefsTer64) Unknown - VUS g.87965727del g.87256009del ZNF292(NM_001351444.2):c.1960delT (p.Y654Ifs*64) - ZNF292_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2405A>G r.(?) p.(Gln802Arg) Unknown - likely benign g.87965752A>G - ZNF292(NM_015021.1):c.2405A>G (p.(Gln802Arg)) - ZNF292_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.2490_2494dup r.(?) p.(Ser832IlefsTer28) Unknown - pathogenic (dominant) g.87965837_87965841dup g.87256119_87256123dup 2490_2494dupTCACA - chr6_008341 - PubMed: Mirzaa 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel NDD 17-022 PubMed: Mirzaa 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - 1 Johan den Dunnen
+?/. - c.2490_2494dup r.(?) p.(Ser832IlefsTer28) Unknown - likely pathogenic (dominant) g.87965837_87965841dup g.87256119_87256123dup - - chr6_008341 - PubMed: Wang 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Wang 2016 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
-?/. - c.2494A>C r.(?) p.(Ser832Arg) Unknown - likely benign g.87965841A>C - ZNF292(NM_015021.1):c.2494A>C (p.(Ser832Arg)) - ZNF292_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2566G>C r.(?) p.(Glu856Gln) Unknown - likely benign g.87965913G>C - ZNF292(NM_015021.1):c.2566G>C (p.(Glu856Gln)) - ZNF292_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2690C>T r.(?) p.(Ser897Leu) Unknown - likely benign g.87966037C>T - ZNF292(NM_015021.1):c.2690C>T (p.(Ser897Leu)) - ZNF292_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2728C>A r.(?) p.(Leu910Ile) Unknown - likely pathogenic (dominant) g.87966075C>A g.87256357C>A - - chr6_008367 - PubMed: DDDS 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD - PubMed: DDDS 2017 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - c.2728C>T r.(?) p.(Leu910Phe) Unknown - VUS g.87966075C>T - ZNF292(NM_015021.1):c.2728C>T (p.(Leu910Phe)) - ZNF292_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2744G>A r.(?) p.(Gly915Glu) Unknown - likely benign g.87966091G>A - ZNF292(NM_015021.1):c.2744G>A (p.(Gly915Glu)) - ZNF292_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2783_2785del r.(?) p.(Pro928del) Unknown - VUS g.87966130_87966132del g.87256412_87256414del ZNF292(NM_015021.2):c.2783_2785delCTC (p.P928del), ZNF292(NM_015021.3):c.2783_2785delCTC (p.P928del) - ZNF292_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2783_2785del r.(?) p.(Pro928del) Unknown - VUS g.87966130_87966132del - ZNF292(NM_015021.2):c.2783_2785delCTC (p.P928del), ZNF292(NM_015021.3):c.2783_2785delCTC (p.P928del) - ZNF292_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.2814_2821dup r.(?) p.(Val941AlafsTer68) Unknown - pathogenic (dominant) g.87966161_87966168dup g.87256443_87256450dup - - chr6_008342 - PubMed: Mirzaa 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel NDD 18-007 PubMed: Mirzaa 2020 2-generation family, 1 affected, unaffected non-carrier parents F - France - - - - - 1 Johan den Dunnen
./. - c.2828_2829del r.(?) p.(Leu943Glnfs*5) Unknown - VUS g.87966175_87966176del g.87256457_87256458del NM_015021.1:c.2828_2829del (Leu943Glnfs*5) - ZNF292_000007 variant not associated with phenotype PubMed: de Ligt 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 23033978-Trio22 PubMed: de Ligt 2012 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.2834_2835del r.(?) p.(Gln945Argfs*3) Unknown - pathogenic g.87966181_87966182del - ZNF292(NM_001351444.2):c.2414_2415delAG (p.Q805Rfs*3) - ZNF292_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2953G>C r.(?) p.(Gly985Arg) Unknown - likely benign g.87966300G>C - ZNF292(NM_001351444.1):c.2533G>C (p.G845R) - ZNF292_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2960del r.(?) p.(Gln987ArgfsTer19) Unknown - VUS g.87966307del - ZNF292(NM_015021.3):c.2960delA (p.Q987Rfs*19) - ZNF292_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2989del r.(?) p.(Asp997Metfs*9) Unknown - likely pathogenic g.87966336del - ZNF292(NM_001351444.2):c.2569delG (p.D857Mfs*9) - ZNF292_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.3053dup r.(?) p.(Gln1019ThrfsTer31) Unknown - VUS g.87966400dup g.87256682dup 3053dupC - chr6_008361 not maternally inherited PubMed: Mirzaa 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel NDD 17-004 PubMed: Mirzaa 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.3066_3069del r.(?) p.(Glu1022Aspfs*3) Unknown ACMG pathogenic g.87966413_87966416del g.87256695_87256698del - - ZNF292_000001 - - - - De novo yes - - - - DNA SEQ-NG - - ID S_104 - - M no - - - - - - 1 Bernt Popp
+/. 8 c.3066_3069del r.3066_3069del p.Glu1022AspfsTer3 Unknown - pathogenic (dominant) g.87966413_87966416del g.87256695_87256698del 3066_3069delAAGA - ZNF292_000001 - PubMed: Mirzaa 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD 17-005 PubMed: Mirzaa 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Germany Europe-N - - - - 1 Johan den Dunnen
+/. 8 c.3066_3069del r.(?) p.(Glu1022AspfsTer3) Unknown - pathogenic (dominant) g.87966413_87966416del g.87256695_87256698del 3067_3069delAAGA - ZNF292_000001 - PubMed: Mirzaa 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD 17-006 PubMed: Mirzaa 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - Europe-N - - - - 1 Johan den Dunnen
?/. - c.3086_3088del r.(?) p.(Met1029del) Unknown - VUS g.87966433_87966435del - ZNF292(NM_015021.1):c.3086_3088delTGA (p.(Met1029del)) - ZNF292_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.3094dup r.(?) p.(Ser1032Phefs*18) Unknown ACMG pathogenic (dominant) g.87966441dup g.87256723dup - - ZNF292_000125 - - - - De novo - - - - - DNA SEQ-NG - - MRD64 - - - - - China - - - - - 1 Yaping Shen
-?/. - c.3176A>G r.(?) p.(Asn1059Ser) Unknown - likely benign g.87966523A>G - ZNF292(NM_015021.1):c.3176A>G (p.(Asn1059Ser)) - ZNF292_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3203T>G r.(?) p.(Leu1068Ter) Unknown - VUS g.87966550T>G g.87256832T>G - - ZNF292_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3215C>T r.(?) p.(Ala1072Val) Unknown - VUS g.87966562C>T g.87256844C>T ZNF292(NM_001351444.2):c.2795C>T (p.A932V) - ZNF292_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3227C>T r.(?) p.(Pro1076Leu) Unknown - likely benign g.87966574C>T - ZNF292(NM_015021.1):c.3227C>T (p.(Pro1076Leu)) - ZNF292_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3319C>T r.(?) p.(Arg1107Ter) Unknown - likely pathogenic g.87966666C>T g.87256948C>T ZNF292(NM_015021.3):c.3319C>T (p.R1107*) - ZNF292_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3319C>T r.(?) p.(Arg1107Ter) Unknown - VUS g.87966666C>T g.87256948C>T ZNF292(NM_015021.3):c.3319C>T (p.R1107*) - ZNF292_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3327T>A r.(?) p.(Tyr1109Ter) Unknown - likely pathogenic g.87966674T>A - - - chr6_008421 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3400C>T r.(?) p.(Arg1134Cys) Unknown - VUS g.87966747C>T g.87257029C>T ZNF292(NM_001351444.2):c.2980C>T (p.R994C) - ZNF292_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3401G>T r.(?) p.(Arg1134Leu) Unknown - VUS g.87966748G>T - ZNF292(NM_015021.1):c.3401G>T (p.(Arg1134Leu)) - ZNF292_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3418C>G r.(?) p.(Gln1140Glu) Unknown - likely benign g.87966765C>G - ZNF292(NM_015021.1):c.3418C>G (p.(Gln1140Glu)) - ZNF292_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3426T>A r.(?) p.(Ala1142=) Unknown - likely benign g.87966773T>A g.87257055T>A ZNF292(NM_015021.2):c.3426T>A (p.A1142=) - ZNF292_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.3432_3436del r.(?) p.(Asn1144Lysfs*5) Unknown ACMG pathogenic (dominant) g.87966779_87966783del g.87257061_87257065del - - ZNF292_000103 ACMG: PVS1, PS4_SUP, PM2_SUP; Detected in at least 4 individuals with ZNF292-associated phenotype (3 index patients and one affected father) - VCV001803333.2 - Germline ? - - - - DNA SEQ-NG-I Blood - ID 321512 - - F - Germany - - - - - 1 Andreas Laner
+/. 8 c.3460_3463del r.(?) p.(Val1154IlefsTer7) Unknown - pathogenic (dominant) g.87966807_87966810del g.87257089_87257092del - - chr6_008343 - PubMed: Mirzaa 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD 19-012 PubMed: Mirzaa 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Jordan - - - - - 1 Johan den Dunnen
-?/. - c.3524A>G r.(?) p.(Asn1175Ser) Unknown - likely benign g.87966871A>G g.87257153A>G ZNF292(NM_015021.1):c.3524A>G (p.(Asn1175Ser)), ZNF292(NM_015021.2):c.3524A>G (p.N1175S) - ZNF292_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3524A>G r.(?) p.(Asn1175Ser) Unknown - likely benign g.87966871A>G - ZNF292(NM_015021.1):c.3524A>G (p.(Asn1175Ser)), ZNF292(NM_015021.2):c.3524A>G (p.N1175S) - ZNF292_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3542C>T r.(?) p.(Ser1181Leu) Unknown - likely benign g.87966889C>T - ZNF292(NM_015021.1):c.3542C>T (p.(Ser1181Leu)) - ZNF292_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3609G>C r.(?) p.(Leu1203Phe) Unknown - likely benign g.87966956G>C - ZNF292(NM_015021.1):c.3609G>C (p.(Leu1203Phe)) - ZNF292_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3635A>C r.(?) p.(Asn1212Thr) Unknown - likely benign g.87966982A>C - ZNF292(NM_015021.1):c.3635A>C (p.(Asn1212Thr)) - ZNF292_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3664G>T r.(?) p.(Glu1222*) Unknown - likely pathogenic g.87967011G>T - ZNF292(NM_015021.1):c.3664G>T (p.(Glu1222*)) - ZNF292_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.3709dup r.(?) p.(Thr1237AsnfsTer20) Unknown - pathogenic (dominant) g.87967056dup g.87257338dup - - chr6_008344 - PubMed: Mirzaa 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD 17-007 PubMed: Mirzaa 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Germany;Italy;Hungary Europe-N - - - - 1 Johan den Dunnen
+/. 8 c.3724del r.(?) p.(Gln1242LysfsTer5) Maternal (confirmed) - pathogenic (dominant) g.87967071del g.87257353del - - chr6_008345 - PubMed: Mirzaa 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD 18-003 PubMed: Mirzaa 2020 family, affected child/mother F - United States Hispanic - - - - 2 Johan den Dunnen
?/. - c.3735T>G r.(?) p.(Asp1245Glu) Unknown - VUS g.87967082T>G - ZNF292(NM_015021.3):c.3735T>G (p.(Asp1245Glu)) - ZNF292_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.3812C>A r.(?) p.(Ser1271Ter) Unknown - pathogenic (dominant) g.87967159C>A g.87257441C>A - - chr6_008346 - PubMed: Mirzaa 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD 17-008 PubMed: Mirzaa 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States Europe-N - - - - 1 Johan den Dunnen
+?/. 8 c.3997_3998del r.(?) p.(Thr1333GlnfsTer8) Unknown ACMG pathogenic (dominant) g.87967344_87967345del g.87257626_87257627del - - ZNF292_000126 - - - - De novo - - - - - DNA SEQ-NG - - MRD64 - - - M - China - - - - - 1 Yaping Shen
-?/. - c.4001A>G r.(?) p.(Asn1334Ser) Unknown - likely benign g.87967348A>G - ZNF292(NM_015021.1):c.4001A>G (p.(Asn1334Ser)) - ZNF292_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4040G>A r.(?) p.(Arg1347His) Unknown - likely benign g.87967387G>A - ZNF292(NM_015021.1):c.4040G>A (p.(Arg1347His)) - ZNF292_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4058G>A r.(?) p.(Gly1353Glu) Unknown - likely benign g.87967405G>A - ZNF292(NM_015021.3):c.4058G>A (p.G1353E) - ZNF292_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4066A>G r.(?) p.(Arg1356Gly) Unknown - VUS g.87967413A>G - ZNF292(NM_015021.1):c.4066A>G (p.(Arg1356Gly)) - ZNF292_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4085A>G r.(?) p.(Lys1362Arg) Both (homozygous) ACMG VUS g.87967432A>G g.87257714A>G 4086A>G (Lys1362Arg) - ZNF292_000104 - PubMed: Desgrouas 2025 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamPat1 PubMed: Desgrouas 2025 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents - yes France - 00y00m01d - - - 2 Johan den Dunnen
+?/. - c.4085A>G r.(?) p.(Lys1362Arg) Both (homozygous) ACMG VUS g.87967432A>G g.87257714A>G 4086A>G (Lys1362Arg) - ZNF292_000104 - PubMed: Desgrouas 2025 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamPat2 PubMed: Desgrouas 2025 sib F yes France - 00y00m00d - - - 1 Johan den Dunnen
+?/. 8 c.4098G>A r.(?) p.(Trp1366*) Unknown ACMG likely pathogenic g.87967445G>A g.87257727G>A - - ZNF292_000109 - - ClinVar-4086075 - De novo - - - - - DNA SEQ-NG-I peripheral blood WES NDD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. - c.4128C>G r.(?) p.(Ile1376Met) Unknown - VUS g.87967475C>G - - - ZNF292_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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