Full data view for gene PCGF2

Information The variants shown are described using the NM_007144.2 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.43C>T r.(?) p.(His15Tyr) Unknown - VUS g.36896613G>A g.38740360G>A PCGF2(NM_007144.3):c.43C>T (p.H15Y) - CISD3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.193C>T r.(?) p.(Pro65Ser) Unknown - pathogenic (dominant) g.36895855G>A g.38739602G>A - - PCGF2_000002 - PubMed: Turnpenny 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30343942-Pat3 PubMed: Turnpenny 2018 2-generation family, affected monozygotic twins, unaffected non-carrier parents F - - - - - - - 2 Johan den Dunnen
+/. - c.193C>T r.(?) p.(Pro65Ser) Unknown - pathogenic (dominant) g.36895855G>A g.38739602G>A - - PCGF2_000002 - PubMed: Turnpenny 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30343942-Pat4 PubMed: Turnpenny 2018 twin F - - - - - - - 1 Johan den Dunnen
./. - c.194C>T r.(?) p.(Pro65Leu) Unknown - pathogenic g.36895854G>A g.38739601G>A - - PCGF2_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.194C>T r.(?) p.(Pro65Leu) Unknown - pathogenic g.36895854G>A g.38739601G>A - - PCGF2_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.194C>T r.(?) p.(Pro65Leu) Unknown - likely pathogenic g.36895854G>A g.38739601G>A - - PCGF2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.194C>T r.(?) p.(Pro65Leu) Unknown - pathogenic (dominant) g.36895854G>A g.38739601G>A - - PCGF2_000001 - PubMed: Turnpenny 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30343942-Pat1 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.194C>T r.(?) p.(Pro65Leu) Unknown - pathogenic (dominant) g.36895854G>A g.38739601G>A - - PCGF2_000001 - PubMed: Turnpenny 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30343942-Pat2 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.194C>T r.(?) p.(Pro65Leu) Unknown - pathogenic (dominant) g.36895854G>A g.38739601G>A - - PCGF2_000001 - PubMed: Turnpenny 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30343942-Pat5 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.194C>T r.(?) p.(Pro65Leu) Unknown - pathogenic (dominant) g.36895854G>A g.38739601G>A - - PCGF2_000001 - PubMed: Turnpenny 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30343942-Pat6 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.194C>T r.(?) p.(Pro65Leu) Unknown - pathogenic (dominant) g.36895854G>A g.38739601G>A - - PCGF2_000001 - PubMed: Turnpenny 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30343942-Pat7 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.194C>T r.(?) p.(Pro65Leu) Unknown - pathogenic (dominant) g.36895854G>A g.38739601G>A - - PCGF2_000001 - PubMed: Turnpenny 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30343942-Pat8 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.194C>T r.(?) p.(Pro65Leu) Unknown - pathogenic (dominant) g.36895854G>A g.38739601G>A - - PCGF2_000001 - PubMed: Turnpenny 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30343942-Pat9 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.194C>T r.(?) p.(Pro65Leu) Unknown - pathogenic (dominant) g.36895854G>A g.38739601G>A - - PCGF2_000001 - PubMed: Turnpenny 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30343942-Pat10 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.194C>T r.(?) p.(Pro65Leu) Maternal (confirmed) - pathogenic (dominant) g.36895854G>A g.38739601G>A - - PCGF2_000001 mother mosaic (0.21 in blood), ormal intellect, thin scalp hair PubMed: Turnpenny 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 30343942-Pat11 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.194C>T r.(?) p.(Pro65Leu) Unknown - pathogenic (dominant) g.36895854G>A g.38739601G>A - - PCGF2_000001 - PubMed: Turnpenny 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30343942-Pat12 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.194C>T r.(?) p.(Pro65Leu) Unknown - pathogenic (dominant) g.36895854G>A g.38739601G>A - - PCGF2_000001 - PubMed: Turnpenny 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30343942-Pat13 PubMed: Turnpenny 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.265+8C>T r.(=) p.(=) Unknown - likely benign g.36895443G>A - PCGF2(NM_007144.3):c.265+8C>T - CISD3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.268G>A r.(?) p.(Glu90Lys) Unknown - VUS g.36895369C>T - PCGF2(NM_007144.2):c.268G>A (p.(Glu90Lys)) - CISD3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.384T>G r.(?) p.(Asp128Glu) Unknown - likely benign g.36895047A>C - PCGF2(NM_007144.2):c.384T>G (p.(Asp128Glu)) - CISD3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.423C>T r.(?) p.(=) Unknown - VUS g.36895008G>A - PCGF2(NM_007144.2):c.423C>T (p.(Ala141Ala)) - CISD3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.491G>A r.(?) p.(Arg164His) Unknown - likely benign g.36894691C>T - PCGF2(NM_007144.2):c.491G>A (p.(Arg164His)) - CISD3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.500G>A r.(?) p.(Arg167Gln) Unknown - likely benign g.36894682C>T - PCGF2(NM_007144.2):c.500G>A (p.(Arg167Gln)) - CISD3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.524T>C r.(?) p.(Met175Thr) Unknown - VUS g.36894658A>G - PCGF2(NM_007144.3):c.524T>C (p.M175T) - CISD3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.622C>G r.(?) p.(Leu208Val) Unknown - VUS g.36892378G>C - PCGF2(NM_007144.3):c.622C>G (p.L208V) - CISD3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.622C>G r.(?) p.(Leu208Val) Unknown - VUS g.36892378G>C - PCGF2(NM_007144.3):c.622C>G (p.L208V) - CISD3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.794_801dup r.(?) p.(Thr268Alafs*54) Unknown - likely benign g.36891710_36891717dup - PCGF2(NM_007144.2):c.794_801dupGCCCTGCC (p.(Thr268fs)) - CISD3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.925G>T r.(?) p.(Ala309Ser) Unknown - likely benign g.36891586C>A - PCGF2(NM_007144.2):c.925G>T (p.(Ala309Ser)) - CISD3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.931dup r.(?) p.(Thr311Asnfs*7) Paternal (confirmed) ACMG likely pathogenic g.36891580dup g.38735327dup - - PCGF2_000003 - - - - Germline yes - - - - DNA SEQ-NG blood WGS ? SK248.2 - - F no Latvia - - - - - 1 Baiba Lace
?/. - c.951C>G r.(?) p.(Ser317Arg) Unknown - VUS g.36891560G>C - PCGF2(NM_007144.3):c.951C>G (p.S317R) - CISD3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.992G>A r.(?) p.(Arg331His) Unknown - likely benign g.36891519C>T - PCGF2(NM_007144.3):c.992G>A (p.R331H) - CISD3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1022C>G r.(?) p.(Pro341Arg) Unknown - likely benign g.36891489G>C - PCGF2(NM_007144.2):c.1022C>G (p.(Pro341Arg)) - CISD3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1025C>G r.(?) p.(Pro342Arg) Unknown - likely benign g.36891486G>C - PCGF2(NM_007144.2):c.1025C>G (p.(Pro342Arg)) - CISD3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1025C>T r.(?) p.(Pro342Leu) Unknown - likely benign g.36891486G>A - PCGF2(NM_007144.2):c.1025C>T (p.(Pro342Leu)) - CISD3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*480C>T r.(*480C>T) p.(=) Unknown - VUS g.36890996G>A g.38734743G>A - - PCGF2_000004 predicted to affect miR-185-5p binding site PubMed: Devanna 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS ID Pat1 PubMed: Devanna 2018 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - c.*694_*695del r.(=) p.(=) Unknown - VUS g.36890792_36890793del - PCGF2(NM_007144.3):c.*694_*695del - CISD3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4421G>C r.(=) p.(=) Unknown - VUS g.36887055C>G g.38730802C>G CISD3(NM_001136498.1):c.84+7C>G (p.(=)) - CISD3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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