Full data view for gene PPFIBP1

Information The variants shown are described using the NM_003622.3 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.-35-25423del r.(=) p.(=) Both (homozygous) - VUS g.27760872del g.27607939del - - PPFIBP1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-35-24593C>T r.(=) p.(=) Unknown - VUS g.27761702C>T g.27608769C>T - - PPFIBP1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-35-24406A>T r.(=) p.(=) Unknown - VUS g.27761889A>T g.27608956A>T - - PPFIBP1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.-35-4dup r.spl? p.? Unknown - likely benign g.27786291dup - PPFIBP1(NM_003622.4):c.-35-4dup - PPFIBP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.243G>A r.(?) p.(Thr81=) Unknown - benign g.27788021G>A g.27635088G>A PPFIBP1(NM_177444.3):c.243G>A (p.T81=) - PPFIBP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.284T>G r.(?) p.(Leu95Arg) Unknown - benign g.27799008T>G g.27646075T>G PPFIBP1(NM_177444.3):c.284T>G (p.L95R) - PPFIBP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.304T>C r.(?) p.(Tyr102His) Unknown - VUS g.27799028T>C - PPFIBP1(NM_003622.4):c.304T>C (p.(Tyr102His)) - PPFIBP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.403C>T r.(?) p.(Arg135*) Both (homozygous) - pathogenic (recessive) g.27800707C>T g.27647774C>T - - PPFIBP1_000020 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS trio NDD Pat7 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Sweden - - - - - 1 Johan den Dunnen
-/. - c.442= r.(=) p.(Leu148=) Unknown - benign g.27800746G>T g.27647813G>T PPFIBP1(NM_177444.3):c.442G>T (p.V148L) - PPFIBP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.471+12G>C r.(=) p.(=) Unknown - benign g.27800787G>C g.27647854G>C PPFIBP1(NM_177444.3):c.471+12G>C - PPFIBP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.471+17G>T r.(=) p.(=) Unknown - benign g.27800792G>T g.27647859G>T PPFIBP1(NM_177444.3):c.471+17G>T - PPFIBP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.471+19A>T r.(=) p.(=) Unknown - benign g.27800794A>T g.27647861A>T PPFIBP1(NM_177444.3):c.471+19A>T - PPFIBP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.472-11A>C r.(=) p.(=) Unknown - benign g.27802932A>C g.27649999A>C PPFIBP1(NM_177444.3):c.472-11A>C - PPFIBP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.474G>C r.(?) p.(Glu158Asp) Unknown - VUS g.27802945G>C - PPFIBP1(NM_003622.4):c.474G>C (p.(Glu158Asp)) - PPFIBP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.504G>C r.(?) p.(Gln168His) Unknown - VUS g.27802975G>C - PPFIBP1(NM_001198915.2):c.45G>C (p.Q15H) - PPFIBP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.604-2_604-1del r.spl? p.? Unknown - pathogenic g.27807653_27807654del - PPFIBP1(NM_001198915.2):c.145-2_145-1delAG - PPFIBP1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.958C>T r.(?) p.(Gln320Ter) Unknown - pathogenic g.27817346C>T g.27664413C>T - - PPFIBP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1146+1G>A r.0? p.0? Both (homozygous) - pathogenic (recessive) g.27820254G>A g.27667321G>A - - PPFIBP1_000021 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES trio NDD Pat1 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.1300C>T r.spl? p.(Gln434*) Both (homozygous) - pathogenic (recessive) g.27825397C>T g.27672464C>T - - PPFIBP1_000018 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat9 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 3-generation family, 1 affected, unaffected heterozygous carrier parents M - - - 3y9m - - - 1 Johan den Dunnen
+/. - c.1368_1369del r.(?) p.(Glu456Aspfs*3) Both (homozygous) - pathogenic (recessive) g.27826748_27826749del g.27673815_27673816del - - PPFIBP1_000022 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Pat3-1 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents M yes - - - - - - 3 Johan den Dunnen
+/. - c.1368_1369del r.(?) p.(Glu456Aspfs*3) Both (homozygous) - pathogenic (recessive) g.27826748_27826749del g.27673815_27673816del - - PPFIBP1_000022 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Pat3-2 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 brother M yes - - - - - - 1 Johan den Dunnen
+/. - c.1368_1369del r.(?) p.(Glu456Aspfs*3) Both (homozygous) - pathogenic (recessive) g.27826748_27826749del g.27673815_27673816del - - PPFIBP1_000022 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Pat3-3 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 brother M yes - - - - - - 1 Johan den Dunnen
+/. - c.1368_1369del r.(?) p.(Glu456Aspfs*3) Both (homozygous) - pathogenic (recessive) g.27826748_27826749del g.27673815_27673816del - - PPFIBP1_000022 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - 1 Johan den Dunnen
-/. - c.1380+20T>G r.(=) p.(=) Unknown - benign g.27826780T>G g.27673847T>G PPFIBP1(NM_177444.3):c.1431+20T>G - PPFIBP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1417_1427del r.(?) p.(Ala473Lysfs*20) Both (homozygous) - pathogenic (recessive) g.27829367_27829377del g.27676434_27676444del - - PPFIBP1_000023 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat8 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 3-generation family, affected female and aunt (2F), unaffected heterozygous carrier parents F yes Iran - - - - - 2 Johan den Dunnen
+/. - c.1468C>T r.(?) p.(Gln490*) Both (homozygous) - pathogenic (recessive) g.27829418C>T g.27676485C>T - - PPFIBP1_000024 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Pat6-1 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Egypt - - - - - 2 Johan den Dunnen
+/. - c.1468C>T r.(?) p.(Gln490*) Both (homozygous) - pathogenic (recessive) g.27829418C>T g.27676485C>T - - PPFIBP1_000024 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Pat6-2 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 brother M yes Egypt - - - - - 1 Johan den Dunnen
+/. - c.1468C>T r.(?) p.(Gln490*) Both (homozygous) - pathogenic (recessive) g.27829418C>T g.27676485C>T - - PPFIBP1_000024 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat11 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - - - - 1 Johan den Dunnen
?/. - c.1582+5G>A r.spl? p.? Paternal (confirmed) - VUS g.27829537G>A g.27676604G>A - - PPFIBP1_000017 - - - - Germline - - - - - DNA SEQ-NG-IT - WES ADHD - - - - - Saudi Arabia Arab - - - - 1 Nada Al Tassan
+?/. - c.1591C>T r.(?) p.(Arg531Ter) Unknown - likely pathogenic g.27830005C>T g.27677072C>T - - PPFIBP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1766+10G>A r.(=) p.(=) Unknown - benign g.27832582G>A g.27679649G>A PPFIBP1(NM_003622.4):c.1766+10G>A, PPFIBP1(NM_177444.3):c.1784+10G>A - PPFIBP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1766+10G>A r.(=) p.(=) Unknown - likely benign g.27832582G>A - PPFIBP1(NM_003622.4):c.1766+10G>A, PPFIBP1(NM_177444.3):c.1784+10G>A - PPFIBP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2012C>T r.(?) p.(Thr671Met) Unknown - VUS g.27834595C>T - PPFIBP1(NM_003622.4):c.2012C>T (p.(Thr671Met)) - PPFIBP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2047-8T>C r.(=) p.(=) Unknown - likely benign g.27835312T>C - PPFIBP1(NM_003622.4):c.2047-8T>C - PPFIBP1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2074C>T r.(?) p.(Arg692Ter) Unknown - VUS g.27835347C>T g.27682414C>T - - PPFIBP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2129A>T r.(?) p.(His710Leu) Unknown - VUS g.27835402A>T - PPFIBP1(NM_001198915.2):c.1688A>T (p.H563L) - PPFIBP1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2158+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.27835433T>C g.27682500T>C - - PPFIBP1_000025 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat14 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.2177G>T r.(?) p.(Gly726Val) Both (homozygous) - likely pathogenic (recessive) g.27835566G>T g.27682633G>T - - PPFIBP1_000019 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES trio NDD Fam13 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 fetus - yes - - - - - - 1 Johan den Dunnen
?/. - c.2342A>G r.(?) p.(Asn781Ser) Unknown - VUS g.27840412A>G - PPFIBP1(NM_001198915.2):c.1901A>G (p.N634S) - PPFIBP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2350C>T r.(?) p.(Arg784Trp) Unknown - likely benign g.27840420C>T - PPFIBP1(NM_001198915.2):c.1909C>T (p.R637W), PPFIBP1(NM_003622.4):c.2350C>T (p.(Arg784Trp)) - PPFIBP1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2350C>T r.(?) p.(Arg784Trp) Unknown - likely benign g.27840420C>T - PPFIBP1(NM_001198915.2):c.1909C>T (p.R637W), PPFIBP1(NM_003622.4):c.2350C>T (p.(Arg784Trp)) - PPFIBP1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2413C>T r.(?) p.(Arg805*) Both (homozygous) - pathogenic (recessive) g.27841273C>T g.27688340C>T - - PPFIBP1_000026 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Pat5-1 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents (2nd degree consanguineous) F yes Egypt - 8y - - - 2 Johan den Dunnen
+/. - c.2413C>T r.(?) p.(Arg805*) Both (homozygous) - pathogenic (recessive) g.27841273C>T g.27688340C>T - - PPFIBP1_000026 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Pat5-2 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 sister F yes Egypt - 4y - - - 1 Johan den Dunnen
+/. - c.2629C>T r.(?) p.(Arg877*) Both (homozygous) - pathogenic (recessive) g.27842080C>T g.27689147C>T - - PPFIBP1_000027 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat10 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 3-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Egypt - - - - - 2 Johan den Dunnen
+/. - c.2654del r.(?) p.(Tyr885Leufs*4) Both (homozygous) - pathogenic (recessive) g.27842105del g.27689172del - - PPFIBP1_000028 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat2 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents (4th degree consanguineous) F yes Syria - 6y - - - 1 Johan den Dunnen
+/. - c.2654del r.(?) p.(Tyr885Leufs*4) Both (homozygous) - pathogenic (recessive) g.27842105del g.27689172del - - PPFIBP1_000028 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat12 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 5-generation family, affected female and aunt (2F), unaffected heterozygous carrier parents F yes Syria - - - - - 2 Johan den Dunnen
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