Full data view for gene ZNF292

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

113 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     
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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.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.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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1861_1862del r.(?) p.(Asn621SerfsTer4) Unknown - likely pathogenic g.87965208_87965209del - - - ZNF292_000101 - - - - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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>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 - - - - - - - - - - - - - - - - - - - - - - -
./. - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - 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
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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.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
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - - Germline - - - - - DNA SEQ-NG-I peripheral blood WES NDD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. - c.4183T>C r.(?) p.(Ser1395Pro) Unknown - VUS g.87967530T>C - - - ZNF292_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4637T>G r.(?) p.(Leu1546Trp) Unknown - VUS g.87967984T>G - ZNF292(NM_015021.1):c.4637T>G (p.(Leu1546Trp)) - ZNF292_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4658C>T r.(?) p.(Thr1553Met) Unknown - VUS g.87968005C>T g.87258287C>T ZNF292(NM_015021.3):c.4658C>T (p.T1553M) - ZNF292_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4769C>G r.(?) p.(Pro1590Arg) Unknown - likely benign g.87968116C>G - ZNF292(NM_015021.1):c.4769C>G (p.(Pro1590Arg)) - ZNF292_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4778G>C r.(?) p.(Gly1593Ala) Unknown - likely benign g.87968125G>C - ZNF292(NM_015021.1):c.4778G>C (p.(Gly1593Ala)) - ZNF292_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4839_4840del r.(?) p.(Asn1614HisfsTer8) Unknown - pathogenic g.87968186_87968187del - - - ZNF292_000030 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4849T>A r.(?) p.(Ser1617Thr) Unknown - likely benign g.87968196T>A - ZNF292(NM_015021.1):c.4849T>A (p.(Ser1617Thr)) - ZNF292_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4911A>G r.(?) p.(Pro1637=) Unknown - likely benign g.87968258A>G - ZNF292(NM_001351444.1):c.4491A>G (p.P1497=) - ZNF292_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4933C>T r.(?) p.(Gln1645Ter) Unknown - VUS g.87968280C>T g.87258562C>T ZNF292(NM_015021.3):c.4933C>T (p.Q1645*) - ZNF292_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4972A>G r.(?) p.(Ile1658Val) Unknown - likely benign g.87968319A>G - ZNF292(NM_015021.1):c.4972A>G (p.(Ile1658Val)) - ZNF292_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4973T>C r.(?) p.(Ile1658Thr) Unknown - likely benign g.87968320T>C - ZNF292(NM_015021.1):c.4973T>C (p.(Ile1658Thr)) - ZNF292_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5131G>C r.(?) p.(Glu1711Gln) Unknown - likely benign g.87968478G>C - ZNF292(NM_015021.1):c.5131G>C (p.(Glu1711Gln)) - ZNF292_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5330C>T r.(?) p.(Ser1777Phe) Unknown - VUS g.87968677C>T - ZNF292(NM_001351444.1):c.4910C>T (p.S1637F) - ZNF292_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5336G>A r.(?) p.(Gly1779Asp) Unknown - likely benign g.87968683G>A - ZNF292(NM_001351444.1):c.4916G>A (p.G1639D) - ZNF292_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5389T>A r.(?) p.(Ser1797Thr) Unknown - VUS g.87968736T>A - ZNF292(NM_015021.3):c.5389T>A (p.(Ser1797Thr)) - ZNF292_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5433G>A r.(?) p.(Pro1811=) Unknown - likely benign g.87968780G>A - ZNF292(NM_001351444.1):c.5013G>A (p.P1671=) - ZNF292_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5823A>G r.(?) p.(Gln1941=) Unknown - likely benign g.87969170A>G g.87259452A>G ZNF292(NM_015021.2):c.5823A>G (p.Q1941=) - ZNF292_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5914C>T r.(?) p.(His1972Tyr) Unknown - VUS g.87969261C>T - ZNF292(NM_001351444.2):c.5494C>T (p.H1832Y) - ZNF292_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.5946_5950del r.(?) p.(Leu1982PhefsTer2) Unknown - likely pathogenic g.87969293_87969297del g.87259575_87259579del - - ZNF292_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5974T>C r.(?) p.(Ser1992Pro) Unknown - likely benign g.87969321T>C - ZNF292(NM_001351444.1):c.5554T>C (p.S1852P) - ZNF292_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6046A>T r.(?) p.(Lys2016*) Unknown - likely pathogenic g.87969393A>T - - - ZNF292_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6064G>T r.(?) p.(Ala2022Ser) Unknown - likely benign g.87969411G>T g.87259693G>T ZNF292(NM_015021.2):c.6064G>T (p.A2022S), ZNF292(NM_015021.3):c.6064G>T (p.(Ala2022Ser)) - ZNF292_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6064G>T r.(?) p.(Ala2022Ser) Unknown - likely benign g.87969411G>T - ZNF292(NM_015021.2):c.6064G>T (p.A2022S), ZNF292(NM_015021.3):c.6064G>T (p.(Ala2022Ser)) - ZNF292_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6134T>C r.(?) p.(Val2045Ala) Unknown - likely benign g.87969481T>C - ZNF292(NM_015021.1):c.6134T>C (p.(Val2045Ala)) - ZNF292_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6160_6161del r.(?) p.(Glu2054Lysfs*14) Unknown - pathogenic g.87969507_87969508del - ZNF292(NM_001351444.2):c.5740_5741delGA (p.E1914Kfs*14) - ZNF292_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6160_6161del r.(?) p.(Glu2054Lysfs*14) Unknown - likely pathogenic (dominant) g.87969507_87969508del g.87259789_87259790del - - ZNF292_000034 - - - - De novo - - - - - DNA SEQ-NG - WES ID 035P - - F no Spain - - - - - 1 Alejandro Brea-Fernández
-?/. - c.6275A>G r.(?) p.(Lys2092Arg) Unknown - likely benign g.87969622A>G - ZNF292(NM_015021.1):c.6275A>G (p.(Lys2092Arg)) - ZNF292_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6494C>T r.(?) p.(Thr2165Ile) Unknown - likely benign g.87969841C>T - ZNF292(NM_015021.1):c.6494C>T (p.(Thr2165Ile)) - ZNF292_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6529A>G r.(?) p.(Ser2177Gly) Unknown - VUS g.87969876A>G - ZNF292(NM_015021.3):c.6529A>G (p.S2177G) - ZNF292_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6571C>T r.(?) p.(Gln2191*) Unknown - pathogenic g.87969918C>T - - - ZNF292_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6809G>A r.(?) p.(Arg2270Gln) Unknown - VUS g.87970156G>A g.87260438G>A ZNF292(NM_015021.2):c.6809G>A (p.R2270Q) - ZNF292_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6925G>C r.(?) p.(Glu2309Gln) Unknown - likely benign g.87970272G>C - ZNF292(NM_015021.1):c.6925G>C (p.(Glu2309Gln)) - ZNF292_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6947G>A r.(?) p.(Arg2316Gln) Unknown - likely benign g.87970294G>A - ZNF292(NM_015021.1):c.6947G>A (p.(Arg2316Gln)) - ZNF292_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7081C>T r.(?) p.(Arg2361Cys) Unknown - VUS g.87970428C>T - ZNF292(NM_001351444.1):c.6661C>T (p.R2221C) - ZNF292_000027 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.