Full data view for gene PLCB4

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

42 entries on 1 page. Showing entries 1 - 42.
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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.-88461_*8440344del r.0? p.0? Unknown - pathogenic g.9200001_17900000del g.9200001_17900000del JAG1 del20p12.1-p12.2, - JAG1_000783 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease AgS1 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
-/. - c.61G>A r.(?) p.(Ala21Thr) Unknown - benign g.9288522G>A g.9307875G>A PLCB4(NM_001172646.2):c.61G>A (p.A21T) - PLCB4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.84+7132C>G r.(=) p.(=) Unknown - likely benign g.9295677C>G - PLCB4(NM_001377142.1):c.84+7132C>G - PLCB4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165+307G>C r.(=) p.(=) Unknown - likely benign g.9318160G>C - PLCB4(NM_001377142.1):c.165+307G>C - PLCB4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.225+1G>A r.spl p.? Unknown - likely pathogenic (dominant) g.9318715G>A g.9338068G>A - - PLCB4_000026 - PubMed: Lin 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ARCND Pat2 PubMed: Lin 2024 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - 1 Johan den Dunnen
-?/. - c.285G>A r.(?) p.(=) Unknown - likely benign g.9319600G>A - PLCB4(NM_001377142.1):c.285G>A (p.(Gly95=)) - PLCB4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.712A>G r.(?) p.(Thr238Ala) Unknown - VUS g.9353719A>G g.9373072A>G PLCB4(NM_000933.3):c.712A>G (p.(Thr238Ala)) - PLCB4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.745-4A>G r.spl? p.? Unknown - likely benign g.9360697A>G - PLCB4(NM_001377142.1):c.745-4A>G - PLCB4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.833A>T r.(?) p.(Asp278Val) Unknown - VUS g.9360789A>T - PLCB4(NM_001172646.1):c.833A>T (p.D278V) - PLCB4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.922C>T r.(?) p.(Arg308Cys) Unknown - likely benign g.9364916C>T - PLCB4(NM_001377142.1):c.922C>T (p.(Arg308Cys)) - PLCB4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1015G>A r.(?) p.(Gly339Arg) Unknown - pathogenic g.9365009G>A - - - PLCB4_000018 - - - - Germline - - - - - DNA ? - - ARCND - - - - - - - - - - - 2 Nancy Vegas
-?/. - c.1323+8T>C r.(=) p.(=) Unknown - likely benign g.9371270T>C - PLCB4(NM_001172646.1):c.1323+8T>C - PLCB4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1400C>T r.(?) p.(Pro467Leu) Unknown - VUS g.9374311C>T - PLCB4(NM_001377142.1):c.1400C>T (p.(Pro467Leu)) - PLCB4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1417C>T r.(?) p.(Gln473Ter) Unknown - pathogenic g.9376172C>T g.9395525C>T - - PLCB4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1502T>C r.(?) p.(Ile501Thr) Unknown - VUS g.9376257T>C g.9395610T>C PLCB4(NM_000933.3):c.1502T>C (p.(Ile501Thr)) - PLCB4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1620dup r.(?) p.(Thr541Hisfs*5) Both (homozygous) - pathogenic (recessive) g.9388572dup g.9407925dup - - PLCB4_000019 - - - - Germline - - - - - DNA SEQ-NG - - ARCND - - - - - - - - - - - 1 Nancy Vegas
+/. - c.1705A>T r.(?) p.(Ile569Phe) Unknown - pathogenic (dominant) g.9388657A>T - - - PLCB4_000020 - - - - Germline - - - - - DNA ? - - ARCND - - - - - - - - - - - 2 Nancy Vegas
?/. - c.1757G>A r.(?) p.(Arg586His) Unknown - VUS g.9389283G>A - PLCB4(NM_001377142.1):c.1793G>A (p.(Arg598His)) - PLCB4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1861C>T r.(?) p.(Arg621Cys) Unknown - pathogenic g.9389726C>T - PLCB4(NM_000933.4):c.1861C>T (p.R621C) - PLCB4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1861C>T r.(?) p.(Arg621Cys) Unknown - pathogenic (dominant) g.9389726C>T - - - PLCB4_000016 - - - - De novo - - - - - DNA ? - - ARCND - - - - - - - - - - - 1 Nancy Vegas
+/. - c.1861C>T r.(?) p.(Arg621Cys) Unknown - pathogenic (dominant) g.9389726C>T g.9409079C>T - - PLCB4_000016 - PubMed: Lin 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ARCND Pat1 PubMed: Lin 2024 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.1862G>A r.(?) p.(Arg621His) Unknown - pathogenic (dominant) g.9389727G>A - - - PLCB4_000021 - - - - Germline - - - - - DNA ? - - ARCND - - - - - - - - - - - 3 Nancy Vegas
+/. - c.1862G>A r.(?) p.(Arg621His) Unknown - pathogenic g.9389727G>A - - - PLCB4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1868A>G r.(?) p.(Tyr623Cys) Parent #1 - pathogenic g.9389733A>G g.9409086A>G - - PLCB4_000014 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397514480 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.2013C>T r.(?) p.(Cys671=) Unknown - likely benign g.9391733C>T g.9411086C>T PLCB4(NM_000933.3):c.2013C>T (p.(=)) - PLCB4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2118+9C>T r.(=) p.(=) Unknown - likely benign g.9400565C>T - PLCB4(NM_001377142.1):c.2154+9C>T - PLCB4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2119-16G>A r.(=) p.(=) Unknown - benign g.9401928G>A g.9421281G>A PLCB4(NM_001172646.2):c.2155-16G>A - PLCB4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2119-4A>G r.spl? p.? Unknown - benign g.9401940A>G g.9421293A>G PLCB4(NM_001172646.2):c.2155-4A>G - PLCB4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2140T>C r.(?) p.(Ser714Pro) Unknown - VUS g.9401965T>C - PLCB4(NM_000933.3):c.2140T>C (p.(Ser714Pro)) - PLCB4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2257A>G r.(?) p.(Asn753Asp) Unknown - VUS g.9402082A>G - PLCB4(NM_000933.3):c.2257A>G (p.(Asn753Asp)) - PLCB4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2283+7C>T r.(=) p.(=) Unknown - VUS g.9402115C>T g.9421468C>T PLCB4(NM_000933.3):c.2283+7C>T (p.(=)) - PLCB4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2390G>A r.(?) p.(Arg797Gln) Unknown - VUS g.9404501G>A g.9423854G>A PLCB4(NM_000933.3):c.2390G>A (p.(Arg797Gln)) - PLCB4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2488+3A>G r.spl? p.? Unknown - VUS g.9404602A>G g.9423955A>G PLCB4(NM_000933.3):c.2488+3A>G (p.?) - PLCB4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2778+1G>C - - Both (homozygous) - likely pathogenic (recessive) g.9424678G>C g.9444031G>C NM_001172646.2:c.2814+1G>C - PLCB4_000025 - PubMed: Al-Kasbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID 30DF10300 PubMed: Al-Kasbi 2022 patient, other affecteds in family M - Oman - - - - - 1 Johan den Dunnen
-?/. - c.2822C>A r.(?) p.(Ser941Tyr) Parent #1 - likely benign g.9424868C>A g.9444221C>A - - PLCB4_000015 16 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148347249 Germline - 16/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 16 Mohammed Faruq
?/. - c.2822C>A r.(?) p.(Ser941Tyr) Unknown - VUS g.9424868C>A - PLCB4(NM_000933.3):c.2822C>A (p.(Ser941Tyr)), PLCB4(NM_000933.4):c.2822C>A (p.S941Y) - PLCB4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2822C>A r.(?) p.(Ser941Tyr) Unknown - likely benign g.9424868C>A - PLCB4(NM_000933.3):c.2822C>A (p.(Ser941Tyr)), PLCB4(NM_000933.4):c.2822C>A (p.S941Y) - PLCB4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2876C>T r.(?) p.(Thr959Met) Unknown - VUS g.9434025C>T - PLCB4(NM_000933.3):c.2876C>T (p.(Thr959Met)) - PLCB4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2961-6T>C r.(=) p.(=) Unknown - likely benign g.9438055T>C - PLCB4(NM_000933.3):c.2961-6T>C (p.(=)), PLCB4(NM_001172646.1):c.2997-6T>C - PLCB4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2961-6T>C r.(=) p.(=) Unknown - likely benign g.9438055T>C - PLCB4(NM_000933.3):c.2961-6T>C (p.(=)), PLCB4(NM_001172646.1):c.2997-6T>C - PLCB4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3104A>T r.(?) p.(Glu1035Val) Unknown - VUS g.9440349A>T - PLCB4(NM_001377142.1):c.3140A>T (p.(Glu1047Val)) - PLCB4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3533G>A r.(?) p.(Arg1178Gln) Unknown - VUS g.9459604G>A - PLCB4(NM_001172646.1):c.3532G>A (p.E1178K) - PLCB4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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