Full data view for gene PYCR2

Information The variants shown are described using the NM_013328.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.2T>C r.(?) p.(Met1?) Unknown - pathogenic g.226111809A>G g.225924109A>G - - PYCR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.85A>G r.(?) p.(Lys29Glu) Unknown - likely benign g.226111454T>C - PYCR2(NM_013328.3):c.85A>G (p.(Lys29Glu)) - PYCR2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.95C>A r.(?) p.(Ala32Asp) Unknown - VUS g.226111444G>T - - - PYCR2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.138+10G>T r.(=) p.(=) Unknown - likely benign g.226111391C>A g.225923691C>A PYCR2(NM_013328.3):c.138+10G>T - PYCR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.139-7_139-6del r.(=) p.(=) Unknown - benign g.226110091_226110092del g.225922391_225922392del PYCR2(NM_013328.3):c.139-7_139-6delCT - PYCR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.193G>A r.(?) p.(Val65Ile) Unknown - VUS g.226110029C>T - PYCR2(NM_013328.4):c.193G>A (p.(Val65Ile)) - PYCR2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.223_225del r.(?) p.(Ile75del) Unknown - VUS g.226110000_226110002del - PYCR2(NM_001271681.1):c.223_225delATC (p.(Ile75del)) - PYCR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.252del r.(?) p.(Asp85Thrfs*24) Unknown - pathogenic g.226109971del - PYCR2(NM_013328.3):c.252delC (p.D85Tfs*24) - PYCR2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.319-1G>C r.spl? p.? Unknown - likely pathogenic g.226109780C>G - PYCR2(NM_013328.3):c.319-1G>C - PYCR2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.355C>T r.(?) p.(Arg119Cys) Both (homozygous) - pathogenic g.226109743G>A g.225922043G>A - - PYCR2_000001 - PubMed: Nakayama 2015, Journal: Nakayama 2015 - - Germline - - - - - DNA, RNA PCR, SEQ - - MCPH 25865492-Fam1PatMR901 PubMed: Nakayama 2015, Journal: Nakayama 2015 2-generation family, affected brother/sister, PatMR901 M yes Oman - >11y - - - 2 Jamie Zeegers
+/. 4 c.355C>T r.(?) p.(Arg119Cys) Both (homozygous) - pathogenic g.226109743G>A g.225922043G>A - - PYCR2_000001 - PubMed: Nakayama 2015, Journal: Nakayama 2015 - - Germline - - - - - DNA, RNA PCR, SEQ - - MCPH 25865492-Fam1PatMR902 PubMed: Nakayama 2015, Journal: Nakayama 2015 PatMR902 F yes Oman - >10y - - - 1 Jamie Zeegers
+?/. - c.355C>T r.(?) p.(Arg119Cys) Both (homozygous) - likely pathogenic (recessive) g.226109743G>A g.225922043G>A - - PYCR2_000001 - PubMed: Al-Kasbi 2022 VCV000192393.1 rs372781135 Germline - - - - - DNA SEQ, SEQ-NG - WES ID 10DK8900 PubMed: Al-Kasbi 2022 patient, other affecteds in family F - Oman - - - - - 1 Johan den Dunnen
+?/. - c.355C>T r.(?) p.(Arg119Cys) Both (homozygous) - likely pathogenic (recessive) g.226109743G>A g.225922043G>A - - PYCR2_000001 - PubMed: Al-Kasbi 2022 VCV000192393.1 rs372781135 Germline - - - - - DNA SEQ, SEQ-NG - WES ID 10SN11400 PubMed: Al-Kasbi 2022 patient, no other affecteds in family F - Oman - - - - - 1 Johan den Dunnen
-?/. - c.393C>T r.(?) p.(Gly131=) Unknown - likely benign g.226109705G>A g.225922005G>A PYCR2(NM_013328.3):c.393C>T (p.G131=) - PYCR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.399A>G r.(?) p.(Thr133=) Unknown - likely benign g.226109699T>C g.225921999T>C PYCR2(NM_013328.3):c.399A>G (p.T133=) - PYCR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.512C>T r.(?) p.(Thr171Met) Unknown - VUS g.226109586G>A - PYCR2(NM_013328.3):c.512C>T (p.T171M) - PYCR2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.528C>T r.(?) p.(Ser176=) Unknown - likely benign g.226109570G>A - PYCR2(NM_013328.3):c.528C>T (p.S176=) - PYCR2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.558C>T r.(?) p.(Asp186=) Unknown - likely benign g.226109327G>A g.225921627G>A PYCR2(NM_013328.3):c.558C>T (p.D186=) - PYCR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.559G>T r.(?) p.(Ala187Ser) Unknown - VUS g.226109326C>A - - - PYCR2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.596G>A r.(?) p.(Arg199Gln) Unknown - pathogenic g.226109289C>T - - - PYCR2_000021 - - - rs376952965 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.615C>T r.(?) p.(Leu205=) Unknown - likely benign g.226109270G>A - PYCR2(NM_013328.3):c.615C>T (p.L205=) - PYCR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.751C>T r.(?) p.(Arg251Cys) Both (homozygous) - pathogenic g.226108954G>A g.225921254G>A - - PYCR2_000002 - PubMed: Nakayama 2015, Journal: Nakayama 2015 - - Germline - - - - - DNA, RNA PCR, SEQ - - MCPH 25865492-Fam2PatMC27801 PubMed: Nakayama 2015, Journal: Nakayama 2015 2-generation family, 2 affected sisters, PatMC27801 F yes Palestine - >09y - - - 2 Jamie Zeegers
+/. 6 c.751C>T r.(?) p.(Arg251Cys) Both (homozygous) - pathogenic g.226108954G>A g.225921254G>A - - PYCR2_000002 - PubMed: Nakayama 2015, Journal: Nakayama 2015 - - Germline - - - - - DNA, RNA PCR, SEQ - - MCPH 25865492-Fam2PatMC27802 PubMed: Nakayama 2015, Journal: Nakayama 2015 PatMC27802 F yes Palestine - >07y - - - 1 Jamie Zeegers
+/. - c.790C>T r.(?) p.(Arg264Ter) Unknown - pathogenic g.226108915G>A g.225921215G>A - - PYCR2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.796C>T r.(?) p.(Arg266Ter) Unknown - pathogenic g.226108909G>A g.225921209G>A PYCR2(NM_001271681.1):c.574C>T (p.(Arg192*)) - PYCR2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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