Full data view for gene ZFP57

Information The variants shown are described using the NM_001109809.2 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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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.24C>T r.(?) p.(=) Unknown - likely benign g.29644757G>A - ZFP57(NM_001109809.2):c.24C>T (p.(Ile8=)) - MOG_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.112C>T r.(?) p.(Arg38Trp) Unknown - likely benign g.29644669G>A g.29676892G>A ZFP57(NM_001109809.2):c.112C>T (p.(Arg38Trp)) - MOG_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.113G>A r.(?) p.(Arg38Gln) Unknown - likely benign g.29644668C>T g.29676891C>T ZFP57(NM_001109809.2):c.113G>A (p.(Arg38Gln)) - MOG_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.222G>A r.(?) p.(Ser74=) Unknown - likely benign g.29643738C>T - ZFP57(NM_001109809.2):c.222G>A (p.(=)) - MOG_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.250+8G>A r.(=) p.(=) Unknown - likely benign g.29643702C>T - ZFP57(NM_001109809.2):c.250+8G>A (p.(=)) - MOG_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.289C>A r.(?) p.(Leu97Ile) Unknown - likely benign g.29643226G>T - ZFP57(NM_001109809.5):c.289C>A (p.(Leu97Ile)) - MOG_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.352+3A>G r.spl? p.? Unknown - likely benign g.29643160T>C - ZFP57(NM_001109809.2):c.352+3A>G (p.?) - MOG_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.374G>A r.(?) p.(Arg125Gln) Unknown - benign g.29641514C>T g.29673737C>T ZFP57(NM_001109809.2):c.374G>A (p.(Arg125Gln)) - MOG_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.374G>A r.(?) p.(Arg125Gln) Parent #1 - likely benign g.29641514C>T g.29673737C>T - - MOG_000024 206 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114591600 Germline - 206/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 206 Mohammed Faruq
-?/. - c.374G>A r.(?) p.(Arg125Gln) Both (homozygous) - likely benign g.29641514C>T g.29673737C>T - - MOG_000024 6 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114591600 Germline - 6/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
?/. - c.381_383del r.(?) p.(Gln127del) Unknown - VUS g.29641509_29641511del - ZFP57(NM_001109809.2):c.381_383del (p.(Gln127del)) - MOG_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.448C>T r.(?) p.(Gln150*) Unknown - pathogenic g.29641440G>A - ZFP57(NM_001109809.5):c.448C>T (p.Q150*) - MOG_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.475A>T r.(?) p.(Thr159Ser) Unknown - likely benign g.29641413T>A g.29673636T>A ZFP57(NM_001109809.2):c.475A>T (p.(Thr159Ser)), ZFP57(NM_001109809.5):c.475A>T (p.T159S) - MOG_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.475A>T r.(?) p.(Thr159Ser) Unknown - likely benign g.29641413T>A - ZFP57(NM_001109809.2):c.475A>T (p.(Thr159Ser)), ZFP57(NM_001109809.5):c.475A>T (p.T159S) - MOG_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.491G>A r.(?) p.(Arg164Gln) Unknown - likely benign g.29641397C>T g.29673620C>T ZFP57(NM_001109809.2):c.491G>A (p.(Arg164Gln)) - ZFP57_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.532T>C r.(?) p.(Tyr178His) Unknown - likely benign g.29641356A>G g.29673579A>G ZFP57(NM_001109809.2):c.532T>C (p.(Tyr178His)) - MOG_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.559C>T r.(?) p.(Arg187Cys) Both (homozygous) - likely benign g.29641329G>A g.29673552G>A - - ZFP57_000005 - PubMed: Saeed 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - wes obesity 29311637-Fam2 PubMed: Saeed 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Pakistan Punjab - - - - 1 Johan den Dunnen
-?/. - c.559C>T r.(?) p.(Arg187Cys) Unknown - likely benign g.29641329G>A - ZFP57(NM_001109809.2):c.559C>T (p.(Arg187Cys)) - ZFP57_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.593A>G r.(?) p.(Asn198Ser) Unknown - likely benign g.29641295T>C g.29673518T>C ZFP57(NM_001109809.2):c.593A>G (p.(Asn198Ser)) - MOG_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.619C>T r.(?) p.(Gln207*) Unknown - likely pathogenic g.29641269G>A - ZFP57(NM_001109809.2):c.619C>T (p.(Gln207*)) - MOG_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.638G>A r.(?) p.(Arg213Gln) Unknown - likely benign g.29641250C>T - ZFP57(NM_001109809.2):c.638G>A (p.(Arg213Gln)) - MOG_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.668G>A r.(?) p.(Arg223His) Unknown - likely benign g.29641220C>T g.29673443C>T ZFP57(NM_001109809.2):c.668G>A (p.(Arg223His)) - MOG_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.672G>A r.(?) p.(Met224Ile) Unknown - VUS g.29641216C>T - ZFP57(NM_001109809.2):c.672G>A (p.(Met224Ile)) - MOG_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.681G>A r.(?) p.(Gly227=) Unknown - likely benign g.29641207C>T - ZFP57(NM_001109809.2):c.681G>A (p.(=)) - MOG_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.732T>C r.(?) p.(Ser244=) Unknown - likely benign g.29641156A>G g.29673379A>G ZFP57(NM_001109809.2):c.732T>C (p.(Ser244=)) - MOG_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.743G>A r.(?) p.(Arg248His) Parent #1 - pathogenic g.29641145C>T g.29673368C>T - - ZFP57_000006 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77625743 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.783C>T r.(?) p.(Cys261=) Unknown - likely benign g.29641105G>A g.29673328G>A ZFP57(NM_001109809.2):c.783C>T (p.(Cys261=)), ZFP57(NM_001109809.3):c.783C>T (p.C261=) - MOG_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.783C>T r.(?) p.(Cys261=) Unknown - likely benign g.29641105G>A - ZFP57(NM_001109809.2):c.783C>T (p.(Cys261=)), ZFP57(NM_001109809.3):c.783C>T (p.C261=) - MOG_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.843C>T r.(?) p.(His281=) Unknown - likely benign g.29641045G>A g.29673268G>A ZFP57(NM_001109809.2):c.843C>T (p.(His281=)) - MOG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.881C>T r.(?) p.(Thr294Ile) Unknown - VUS g.29641007G>A g.29673230G>A ZFP57(NM_001109809.2):c.881C>T (p.(Thr294Ile)) - MOG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.937A>G r.(?) p.(Arg313Gly) Unknown - benign g.29640951T>C g.29673174T>C ZFP57(NM_001109809.2):c.937A>G (p.(Arg313Gly)) - MOG_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.976G>A r.(?) p.(Val326Met) Unknown - VUS g.29640912C>T g.29673135C>T ZFP57(NM_001109809.2):c.976G>A (p.(Val326Met)) - ZFP57_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1033G>C r.(?) p.(Ala345Pro) Unknown - likely benign g.29640855C>G g.29673078C>G ZFP57(NM_001109809.2):c.1033G>C (p.(Ala345Pro)), ZFP57(NM_001109809.5):c.1033G>C (p.A345P) - MOG_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1033G>C r.(?) p.(Ala345Pro) Unknown - likely benign g.29640855C>G - ZFP57(NM_001109809.2):c.1033G>C (p.(Ala345Pro)), ZFP57(NM_001109809.5):c.1033G>C (p.A345P) - MOG_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1086T>C r.(?) p.(Thr362=) Unknown - likely benign g.29640802A>G g.29673025A>G ZFP57(NM_001109809.2):c.1086T>C (p.(Thr362=)), ZFP57(NM_001109809.3):c.1086T>C (p.T362=) - MOG_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1086T>C r.(?) p.(Thr362=) Unknown - likely benign g.29640802A>G - ZFP57(NM_001109809.2):c.1086T>C (p.(Thr362=)), ZFP57(NM_001109809.3):c.1086T>C (p.T362=) - MOG_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1101G>C r.(?) p.(Gln367His) Unknown - likely benign g.29640787C>G - ZFP57(NM_001109809.2):c.1101G>C (p.(Gln367His)) - MOG_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1103A>T r.(?) p.(Asp368Val) Unknown - benign g.29640785T>A g.29673008T>A ZFP57(NM_001109809.2):c.1103A>T (p.(Asp368Val)) - MOG_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1103A>T r.(?) p.(Asp368Val) Parent #1 - likely benign g.29640785T>A g.29673008T>A - - MOG_000010 31 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2535241 Germline - 31/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 31 Mohammed Faruq
-?/. - c.1109G>C r.(?) p.(Arg370Thr) Unknown - likely benign g.29640779C>G - ZFP57(NM_001109809.2):c.1109G>C (p.(Arg370Thr)) - MOG_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1112C>G r.(?) p.(Ser371Cys) Unknown - VUS g.29640776G>C - ZFP57(NM_001109809.2):c.1112C>G (p.(Ser371Cys)) - MOG_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1118C>G r.(?) p.(Ser373Cys) Unknown - likely benign g.29640770G>C - ZFP57(NM_001109809.2):c.1118C>G (p.(Ser373Cys)) - MOG_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1212G>A r.(?) p.(Lys404=) Unknown - likely benign g.29640676C>T - ZFP57(NM_001109809.2):c.1212G>A (p.(=)) - MOG_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1379G>A r.(?) p.(Arg460Lys) Unknown - VUS g.29640509C>T - ZFP57(NM_001109809.2):c.1379G>A (p.(Arg460Lys)) - MOG_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1472C>G r.(?) p.(Thr491Ser) Unknown - likely benign g.29640416G>C g.29672639G>C ZFP57(NM_001109809.2):c.1472C>G (p.(Thr491Ser)) - ZFP57_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1509A>G r.(?) p.(Gln503=) Unknown - likely benign g.29640379T>C - ZFP57(NM_001109809.2):c.1509A>G (p.(=)) - MOG_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1513C>G r.(?) p.(Pro505Ala) Unknown - VUS g.29640375G>C - ZFP57(NM_001109809.2):c.1513C>G (p.(Pro505Ala)) - MOG_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1518dup r.(?) p.(Arg507GlnfsTer30) Unknown - likely pathogenic g.29640375dup g.29672598dup ZFP57(NM_001109809.2):c.1518dup (p.(Arg507Glnfs*30)) - MOG_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1579A>G r.(?) p.(Lys527Glu) Unknown - likely benign g.29640309T>C - ZFP57(NM_001109809.2):c.1579A>G (p.(Lys527Glu)) - MOG_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1585G>A r.(?) p.(Ala529Thr) Unknown - VUS g.29640303C>T g.29672526C>T ZFP57(NM_001109809.2):c.1585G>A (p.(Ala529Thr)) - ZFP57_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1757_*1761del r.(=) p.(=) Unknown - benign g.29638517_29638521del g.29670740_29670744del MOG(NM_001008228.2):c.661+19_661+23del (p.(=)) - MOG_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1803A>G r.(=) p.(=) Unknown - benign g.29638474T>C g.29670697T>C MOG(NM_001008228.2):c.641-4T>C (p.?) - MOG_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2111C>T r.(=) p.(=) Unknown - VUS g.29638166G>A - MOG(NM_002433.4):c.701G>A (p.(Arg234Lys)) - MOG_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2114C>T r.(=) p.(=) Unknown - likely benign g.29638163G>A - MOG(NM_002433.4):c.698G>A (p.(Arg233Gln)) - MOG_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2176A>G r.(=) p.(=) Unknown - likely benign g.29638101T>C g.29670324T>C MOG(NM_002433.4):c.636T>C (p.(Phe212=)) - MOG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2176A>T r.(=) p.(=) Unknown - likely benign g.29638101T>A g.29670324T>A MOG(NM_002433.4):c.636T>A (p.(Phe212Leu)) - MOG_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2279C>T r.(=) p.(=) Unknown - likely benign g.29637998G>A - MOG(NM_001008228.2):c.640G>A (p.(Gly214Arg)) - MOG_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2291G>A r.(=) p.(=) Unknown - likely benign g.29637986C>T g.29670209C>T MOG(NM_001008228.2):c.628C>T (p.(Pro210Ser)) - MOG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4867A>C r.(=) p.(=) Unknown - benign g.29635410T>G g.29667633T>G MOG(NM_001008228.2):c.551-10T>G (p.(=)) - MOG_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4871del r.(?) p.(=) Unknown - VUS g.29635410del - MOG(NM_001008228.2):c.551-10del (p.(=)) - MOG_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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