Full data view for gene PIP5K1C

Information The variants shown are described using the NM_012398.2 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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.220-8C>A r.(=) p.(=) Unknown - likely benign g.3662007G>T - PIP5K1C(NM_012398.3):c.220-8C>A - PIP5K1C_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.234C>T r.(?) p.(Thr78=) Unknown - likely benign g.3661985G>A - PIP5K1C(NM_012398.3):c.234C>T (p.T78=) - PIP5K1C_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.303C>T r.(?) p.(Asp101=) Unknown - likely benign g.3661916G>A g.3661918G>A PIP5K1C(NM_012398.2):c.303C>T (p.D101=) - PIP5K1C_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.436G>A r.(?) p.(Glu146Lys) Unknown - pathogenic (dominant) g.3660996C>T g.3660998C>T - - PIP5K1C_000024 - PubMed: Morleo 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents M no Kazakhstan - - - - - 1 Johan den Dunnen
-/. - c.468+20C>T r.(=) p.(=) Unknown - benign g.3660944G>A g.3660946G>A PIP5K1C(NM_012398.3):c.468+20C>T - PIP5K1C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.614A>G r.(?) p.(Tyr205Cys) Unknown - pathogenic (dominant) g.3656410T>C g.3656412T>C - - PIP5K1C_000023 - PubMed: Morleo 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents F no Romania - - - - - 1 Johan den Dunnen
+/. - c.614A>G r.(?) p.(Tyr205Cys) Unknown - pathogenic (dominant) g.3656410T>C g.3656412T>C - - PIP5K1C_000023 - PubMed: Morleo 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents M no Pakistan - - - - - 1 Johan den Dunnen
+/. - c.662A>G r.(?) p.(Tyr221Cys) Unknown - pathogenic (dominant) g.3653547T>C g.3653549T>C - - PIP5K1C_000022 - PubMed: Morleo 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents F no United States Europe-N;native American - - - - 1 Johan den Dunnen
+/. - c.662A>G r.(?) p.(Tyr221Cys) Unknown - pathogenic (dominant) g.3653547T>C g.3653549T>C - - PIP5K1C_000022 somatic mosaicism PubMed: Morleo 2023 - - Somatic - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents M no Netherlands Europe-N;Asia - - - - 1 Johan den Dunnen
+/. - c.662A>G r.(?) p.(Tyr221Cys) Unknown - pathogenic (dominant) g.3653547T>C g.3653549T>C - - PIP5K1C_000022 - PubMed: Morleo 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat6 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents M - Italy - - - - - 1 Johan den Dunnen
+/. - c.662A>G r.(?) p.(Tyr221Cys) Unknown - pathogenic (dominant) g.3653547T>C g.3653549T>C - - PIP5K1C_000022 - PubMed: Morleo 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents F no France - - - - - 1 Johan den Dunnen
+/. - c.662A>G r.(?) p.(Tyr221Cys) Unknown - pathogenic (dominant) g.3653547T>C g.3653549T>C - - PIP5K1C_000022 - PubMed: Morleo 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat8 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents M no Italy Europe - - - - 1 Johan den Dunnen
+/. - c.662A>G r.(?) p.(Tyr221Cys) Unknown - pathogenic (dominant) g.3653547T>C g.3653549T>C - - PIP5K1C_000022 - PubMed: Morleo 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat9 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents M no Colombia - - - - - 1 Johan den Dunnen
+?/. - c.662A>G r.(?) p.(Tyr221Cys) Maternal (confirmed) - VUS g.3653547T>C g.3653549T>C - - PIP5K1C_000022 - PubMed: Chapman 2025, Journal: Chapman 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Chapman 2025, Journal: Chapman 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-/. - c.684G>A r.(?) p.(Ser228=) Unknown - benign g.3653525C>T g.3653527C>T PIP5K1C(NM_012398.3):c.684G>A (p.S228=) - PIP5K1C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.688_689del r.(?) p.(Gly230Glnfs*114) Unknown - VUS g.3653524_3653525del - PIP5K1C(NM_012398.3):c.688_689del (p.(Gly230GlnfsTer114)) - PIP5K1C_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.757G>A r.(?) p.(Asp253Asn) Both (homozygous) - pathogenic (recessive) g.3653452C>T g.3653454C>T G757A - PIP5K1C_000021 - PubMed: Narkis 2007 - - Germline yes - - - - DNA arraySNP, SEQ, SEQ-NG - - LCCS family PubMed: Narkis 2007 5-generation family, 9 affected (6F, 3M) F;M yes Israel Bedouin - - - - 1 Johan den Dunnen
./. - c.902C>T r.(?) p.(Thr301Met) Unknown - likely pathogenic g.3653307G>A g.3653309G>A NM_001300849.1(PIP5K1C):c.902C>T p.(Thr301Met) - PIP5K1C_000003 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-762A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
?/. - c.991C>T r.(?) p.(Arg331Cys) Unknown - VUS g.3651960G>A - PIP5K1C(NM_012398.3):c.991C>T (p.(Arg331Cys)) - PIP5K1C_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1058T>C r.(?) p.(Leu353Pro) Unknown - VUS g.3651893A>G g.3651895A>G PIP5K1C(NM_001195733.1):c.1058T>C (p.(Leu353Pro)) - PIP5K1C_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1114G>A r.(?) p.(Glu372Lys) Unknown - likely pathogenic g.3651837C>T g.3651839C>T NM_001300849.1(PIP5K1C):c.1114G>A p.(Glu372Lys) - PIP5K1C_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-729A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
+/. - c.1292A>G r.(?) p.(Tyr431Cys) Unknown - pathogenic g.3646025T>C g.3646027T>C - - PIP5K1C_000038 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. - c.1333C>T r.(?) p.(Arg445Trp) Unknown - pathogenic g.3645984G>A g.3645986G>A - - PIP5K1C_000037 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
-?/. - c.1345+8A>G r.(=) p.(=) Unknown - likely benign g.3645964T>C - PIP5K1C(NM_012398.3):c.1345+8A>G - PIP5K1C_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1345+9C>T r.(=) p.(=) Unknown - benign g.3645963G>A g.3645965G>A PIP5K1C(NM_012398.3):c.1345+9C>T - PIP5K1C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1510+111C>T r.(=) p.(=) Both (homozygous) - VUS g.3643974G>A g.3643976G>A - - PIP5K1C_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1612C>T r.(?) p.(Arg538Trp) Unknown - VUS g.3643278G>A - PIP5K1C(NM_012398.3):c.1612C>T (p.R538W) - PIP5K1C_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1803G>A r.(?) p.(Pro601=) Unknown - likely benign g.3638999C>T g.3639001C>T PIP5K1C(NM_012398.2):c.1803G>A (p.P601=) - PIP5K1C_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1920+1268C>T r.(=) p.(=) Unknown - likely benign g.3637614G>A - PIP5K1C(NM_001300849.2):c.1921-3C>T - PIP5K1C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1920+1290G>A r.(=) p.(=) Unknown - VUS g.3637592C>T g.3637594C>T PIP5K1C(NM_001300849.1):c.1940G>A (p.W647*) - PIP5K1C_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1920+1331C>G r.(=) p.(=) Unknown - VUS g.3637551G>C - PIP5K1C(NM_001300849.2):c.1981C>G (p.(Leu661Val)) - PIP5K1C_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1920+1349G>C r.(=) p.(=) Unknown - VUS g.3637533C>G - PIP5K1C(NM_001300849.2):c.1999G>C (p.(Val667Leu)) - PIP5K1C_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1920+1397G>A r.(=) p.(=) Unknown - likely benign g.3637485C>T g.3637487C>T PIP5K1C(NM_001300849.1):c.2047G>A (p.G683R) - PIP5K1C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1920+1430G>C r.(=) p.(=) Unknown - likely benign g.3637452C>G - PIP5K1C(NM_001300849.2):c.2080G>C (p.(Ala694Pro)) - PIP5K1C_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1975C>T r.(?) p.(Pro659Ser) Unknown - benign g.3633464G>A g.3633466G>A PIP5K1C(NM_012398.3):c.1975C>T (p.(Pro659Ser), p.P659S) - PIP5K1C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1975C>T r.(?) p.(Pro659Ser) Unknown - benign g.3633464G>A - PIP5K1C(NM_012398.3):c.1975C>T (p.(Pro659Ser), p.P659S) - PIP5K1C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1999G>A r.(?) p.(Asp667Asn) Unknown - VUS g.3633440C>T - PIP5K1C(NM_012398.2):c.1999G>A (p.(Asp667Asn)) - PIP5K1C_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2005-7C>T r.(=) p.(=) Unknown - likely benign g.3633174G>A - PIP5K1C(NM_012398.3):c.2005-7C>T - PIP5K1C_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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