Full data view for gene PRKCI

Information The variants shown are described using the NM_002740.5 transcript reference sequence.

73 entries on 1 page. Showing entries 1 - 73.
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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.167A>G r.(?) p.(Asp56Gly) Unknown - likely benign g.169953083A>G g.170235295A>G - - PRKCI_000001 - PubMed: Robinson 2025, Journal: Robinson 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat1 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.187G>A r.(?) p.(Glu63Lys) Unknown - likely benign g.169953103G>A g.170235315G>A - - PRKCI_000002 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs757899632 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat2 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.187G>A r.(?) p.(Glu63Lys) Unknown - likely benign g.169953103G>A g.170235315G>A - - PRKCI_000002 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs757899632 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat3 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.187G>A r.(?) p.(Glu63Lys) Unknown - likely benign g.169953103G>A g.170235315G>A - - PRKCI_000002 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs757899632 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat4 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.190C>G r.(?) p.(Gln64Glu) Unknown - likely benign g.169953106C>G g.170235318C>G - - PRKCI_000003 - PubMed: Robinson 2025, Journal: Robinson 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat5 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.194T>G r.(?) p.(Leu65Arg) Unknown - likely benign g.169953110T>G g.170235322T>G - - PRKCI_000004 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs775805215 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat6 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.194T>G r.(?) p.(Leu65Arg) Unknown - likely benign g.169953110T>G g.170235322T>G - - PRKCI_000004 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs775805215 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat7 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.194T>G r.(?) p.(Leu65Arg) Unknown - likely benign g.169953110T>G g.170235322T>G - - PRKCI_000004 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs775805215 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat8 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.230C>T r.(?) p.(Pro77Leu) Parent #1 - likely pathogenic g.169977763C>T g.170259975C>T - - PRKCI_000005 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs763696294 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat9 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected carrier parent - - - - - - - - 1 Johan den Dunnen
?/. - c.238G>C r.(?) p.(Val80Leu) Unknown - VUS g.169977771G>C g.170259983G>C - - PRKCI_000006 - PubMed: Robinson 2025, Journal: Robinson 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat10 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
?/. - c.245_246insCC r.(?) p.(Gln83LeufsTer5) Unknown - VUS g.169977778_169977779insCC g.170259990_170259991insCC - - PRKCI_000007 - PubMed: Robinson 2025, Journal: Robinson 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat11 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.370A>G r.(?) p.(Ile124Val) Parent #1 - likely benign g.169985708A>G g.170267920A>G - - PRKCI_000008 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs946756475 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat12 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected carrier parent - - - - - - - - 1 Johan den Dunnen
+?/. - c.388C>T r.(?) p.(Arg130Cys) Parent #1 - likely pathogenic g.169985726C>T g.170267938C>T - - PRKCI_000009 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs56154494 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat13 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.389G>A r.(?) p.(Arg130His) Unknown - likely pathogenic g.169985727G>A g.170267939G>A - - PRKCI_000010 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs369872734 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat14 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.389G>A r.(?) p.(Arg130His) Unknown - likely pathogenic g.169985727G>A g.170267939G>A - - PRKCI_000010 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs369872734 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat15 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.389G>A r.(?) p.(Arg130His) Unknown - likely pathogenic g.169985727G>A g.170267939G>A - - PRKCI_000010 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs369872734 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat16 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected carrier parent - - - - - - - - 1 Johan den Dunnen
+?/. - c.407A>G r.(?) p.(Tyr136Cys) Unknown - likely pathogenic (dominant) g.169985745A>G g.170267957A>G - - PRKCI_000011 - PubMed: Robinson 2025, Journal: Robinson 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat17 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. - c.452G>A r.spl? p.(Arg151His) Unknown - likely pathogenic g.169988210G>A g.170270422G>A - - PRKCI_000012 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs750420887 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat18 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.455C>T r.(?) p.(Ala152Val) Unknown - likely pathogenic g.169988213C>T g.170270425C>T - - PRKCI_000013 - PubMed: Robinson 2025, Journal: Robinson 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat19 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.556G>A r.(?) p.(Val186Ile) Unknown - likely benign g.169988314G>A g.170270526G>A - - PRKCI_000014 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs1329586167 Germline - - - - - DNA SEQ, SEQ-NG - - Healthy/Control S3-Pat20 PubMed: Robinson 2025, Journal: Robinson 2025 control - - - - - - - - 1 Johan den Dunnen
-?/. - c.563T>C r.(?) p.(Ile188Thr) Unknown - likely benign g.169988321T>C g.170270533T>C - - PRKCI_000015 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs147562215 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat21 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.563T>C r.(?) p.(Ile188Thr) Unknown - likely benign g.169988321T>C g.170270533T>C - - PRKCI_000015 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs147562215 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat22 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.587C>T r.(?) p.(Pro196Leu) Parent #1 - likely benign g.169988345C>T g.170270557C>T - - PRKCI_000016 - PubMed: Robinson 2025, Journal: Robinson 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat23 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected carrier parent - - - - - - - - 1 Johan den Dunnen
-?/. - c.591G>C r.spl? p.(Gln197His) Unknown - likely benign g.169988349G>C g.170270561G>C - - PRKCI_000017 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs766551522 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat24 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.614A>G r.(?) p.(Gln205Arg) Unknown - likely benign g.169991096A>G g.170273308A>G - - PRKCI_000018 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs374000097 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat25 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.624G>C r.(?) p.(Met208Ile) Unknown - likely benign g.169991106G>C g.170273318G>C - - PRKCI_000019 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs750284734 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat26 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.649A>G r.spl? p.(Ile217Val) Unknown - likely benign g.169993019A>G g.170275231A>G - - PRKCI_000020 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs767045797 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat27 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.652C>A r.(?) p.(Pro218Thr) Unknown - likely benign g.169993022C>A g.170275234C>A - - PRKCI_000021 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs1734086676 De novo - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat28 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
-?/. - c.656A>G r.(?) p.(Tyr219Cys) Unknown - likely benign g.169993026A>G g.170275238A>G - - PRKCI_000022 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs191938996 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat29 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.656A>G r.(?) p.(Tyr219Cys) Unknown - likely benign g.169993026A>G g.170275238A>G - - PRKCI_000022 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs191938996 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat30 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.656A>G r.(?) p.(Tyr219Cys) Unknown - likely benign g.169993026A>G g.170275238A>G - - PRKCI_000022 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs191938996 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat31 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.656A>G r.(?) p.(Tyr219Cys) Unknown - likely benign g.169993026A>G g.170275238A>G - - PRKCI_000022 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs191938996 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat32 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.706G>T r.spl? p.(Ala236Ser) Unknown - likely benign g.169998015G>T g.170280227G>T - - PRKCI_000023 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs199997573 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat33 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.715A>G r.(?) p.(Thr239Ala) Unknown - likely benign g.169998024A>G g.170280236A>G - - PRKCI_000024 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs768734145 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat34 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.728G>A r.(?) p.(Gly243Asp) Unknown - likely benign g.169998037G>A g.170280249G>A - - PRKCI_000025 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs200726509 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat35 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.728G>A r.(?) p.(Gly243Asp) Unknown - likely benign g.169998037G>A g.170280249G>A - - PRKCI_000025 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs200726509 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat36 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.728G>A r.(?) p.(Gly243Asp) Unknown - likely benign g.169998037G>A g.170280249G>A - - PRKCI_000025 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs200726509 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat37 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.728G>A r.(?) p.(Gly243Asp) Unknown - likely benign g.169998037G>A g.170280249G>A - - PRKCI_000025 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs200726509 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat38 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.728G>A r.(?) p.(Gly243Asp) Unknown - likely benign g.169998037G>A g.170280249G>A - - PRKCI_000025 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs200726509 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat39 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.728G>A r.(?) p.(Gly243Asp) Unknown - likely benign g.169998037G>A g.170280249G>A - - PRKCI_000025 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs200726509 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat40 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.728G>A r.(?) p.(Gly243Asp) Parent #1 - likely benign g.169998037G>A g.170280249G>A - - PRKCI_000025 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs200726509 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat41 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected carrier parent - - - - - - - - 1 Johan den Dunnen
-?/. - c.815G>A r.(?) p.(Arg272Gln) Unknown - likely benign g.169998124G>A g.170280336G>A - - PRKCI_000026 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs762380206 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat42 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.819A>T r.(?) p.(Leu273Phe) Unknown - likely pathogenic g.169998128A>T g.170280340A>T - - PRKCI_000027 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs150239950 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat43 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.874G>A r.(?) p.(Asp292Asn) Unknown - likely pathogenic g.169998183G>A g.170280395G>A - - PRKCI_000028 - PubMed: Robinson 2025, Journal: Robinson 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat44 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
?/. - c.934C>T r.(?) p.(His312Tyr) Parent #1 - VUS g.169999005C>T g.170281217C>T - - PRKCI_000029 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs977008114 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat45 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected carrier parent - - - - - - - - 1 Johan den Dunnen
+?/. - c.981A>C r.spl? p.(Arg327Ser) Unknown - likely pathogenic g.169999670A>C g.170281882A>C - - PRKCI_000030 - PubMed: Robinson 2025, Journal: Robinson 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat46 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1043_1046del r.(?) p.(Arg348AsnfsTer16) Unknown - VUS g.169999732_169999735del g.170281944_170281947del - - PRKCI_000031 - PubMed: Robinson 2025, Journal: Robinson 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat47 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.1052C>T r.(?) p.(Pro351Leu) Parent #1 - likely pathogenic g.169999741C>T g.170281953C>T - - PRKCI_000032 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs1734260272 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat48 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected carrier parent - - - - - - - - 1 Johan den Dunnen
?/. - c.1094C>G r.(?) p.(Ala365Gly) Unknown - VUS g.170002275C>G g.170284487C>G - - PRKCI_000033 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs770485461 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat49 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1094C>G r.(?) p.(Ala365Gly) Unknown - VUS g.170002275C>G g.170284487C>G - - PRKCI_000033 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs770485461 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat50 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.1118G>A r.(?) p.(Gly373Glu) Unknown - likely pathogenic g.170002299G>A g.170284511G>A - - PRKCI_000034 - PubMed: Robinson 2025, Journal: Robinson 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat51 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.1127A>G r.(?) p.(Tyr376Cys) Unknown - likely pathogenic g.170002308A>G g.170284520A>G - - PRKCI_000035 - PubMed: Robinson 2025, Journal: Robinson 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat52 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.1148A>G r.(?) p.(Asn383Ser) Unknown - likely pathogenic (dominant) g.170002329A>G g.170284541A>G - - PRKCI_000036 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs1373137084 De novo - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat53 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. - c.1148A>G r.(?) p.(Asn383Ser) Unknown - likely pathogenic (dominant) g.170002329A>G g.170284541A>G - - PRKCI_000036 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs1373137084 De novo - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat54 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. - c.1148A>G r.(?) p.(Asn383Ser) Unknown - likely pathogenic (dominant) g.170002329A>G g.170284541A>G - - PRKCI_000036 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs1373137084 De novo - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat55 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. - c.1148A>G r.(?) p.(Asn383Ser) Unknown - likely pathogenic (dominant) g.170002329A>G g.170284541A>G - - PRKCI_000036 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs1373137084 De novo - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat56 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. - c.1148A>G r.(?) p.(Asn383Ser) Unknown - likely pathogenic g.170002329A>G g.170284541A>G - - PRKCI_000036 variant suspect de novo PubMed: Robinson 2025, Journal: Robinson 2025 - rs1373137084 De novo - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat57 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. - c.1155A>C r.(?) p.(Leu385Phe) Parent #1 - likely pathogenic (dominant) g.170002336A>C g.170284548A>C - - PRKCI_000037 - PubMed: Robinson 2025, Journal: Robinson 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat58 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+?/. - c.1231A>C r.(?) p.(Ser411Arg) Parent #1 - likely pathogenic g.170009669A>C g.170291881A>C - - PRKCI_000038 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs1560185295 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat59 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected carrier parent - - - - - - - - 1 Johan den Dunnen
+?/. - c.1262C>G r.(?) p.(Ala421Gly) Parent #1 - likely pathogenic g.170009700C>G g.170291912C>G - - PRKCI_000039 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs1734562490 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat60 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected carrier parent - - - - - - - - 1 Johan den Dunnen
?/. - c.1367T>C r.(?) p.(Val456Ala) Unknown - VUS g.170011246T>C g.170293458T>C - - PRKCI_000040 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs776558522 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat61 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.1439G>A r.(?) p.(Arg480His) Parent #1 - likely pathogenic g.170013720G>A g.170295932G>A - - PRKCI_000041 - PubMed: Robinson 2025, Journal: Robinson 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat62 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected carrier parent - - - - - - - - 1 Johan den Dunnen
+?/. - c.1439G>A r.(?) p.(Arg480His) Parent #1 - likely pathogenic g.170013720G>A g.170295932G>A - - PRKCI_000041 - PubMed: Robinson 2025, Journal: Robinson 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat63 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected carrier parent - - - - - - - - 1 Johan den Dunnen
-?/. - c.1603G>C r.(?) p.(Val535Leu) Unknown - likely benign g.170016798G>C g.170299010G>C - - PRKCI_000042 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs142234162 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat64 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1612C>T r.(?) p.(Pro538Ser) Unknown - VUS g.170016807C>T g.170299019C>T - - PRKCI_000043 - PubMed: Robinson 2025, Journal: Robinson 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat65 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.1615T>C r.(?) p.(Phe539Leu) Unknown - likely pathogenic g.170016810T>C g.170299022T>C - - PRKCI_000044 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs750120400 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat66 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.1615T>C r.(?) p.(Phe539Leu) Unknown - likely pathogenic g.170016810T>C g.170299022T>C - - PRKCI_000044 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs750120400 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat67 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.1615T>C r.(?) p.(Phe539Leu) Parent #1 - likely pathogenic g.170016810T>C g.170299022T>C - - PRKCI_000044 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs750120400 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat68 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected carrier parent - - - - - - - - 1 Johan den Dunnen
?/. - c.1684C>T r.(?) p.(Gln562Ter) Parent #1 - VUS g.170016879C>T g.170299091C>T - - PRKCI_000045 - PubMed: Robinson 2025, Journal: Robinson 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat69 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected carrier parent - - - - - - - - 1 Johan den Dunnen
+?/. - c.1700A>G r.(?) p.(Asp567Gly) Unknown - likely pathogenic g.170016895A>G g.170299107A>G - - PRKCI_000046 - PubMed: Robinson 2025, Journal: Robinson 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat70 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1702G>A r.spl? p.(Asp568Asn) Unknown - likely benign g.170016897G>A g.170299109G>A - - PRKCI_000047 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs145084763 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat71 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.1742G>T r.(?) p.(Gly581Val) Parent #1 - likely pathogenic g.170020866G>T g.170303078G>T - - PRKCI_000048 - PubMed: Robinson 2025, Journal: Robinson 2025 - rs1475798615 Germline - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat72 PubMed: Robinson 2025, Journal: Robinson 2025 2-generation family, 1 affected, unaffected carrier parent - - - - - - - - 1 Johan den Dunnen
-?/. - c.1774G>A r.(?) p.(Ala592Thr) Unknown - likely benign g.170020898G>A g.170303110G>A - - PRKCI_000049 - PubMed: Robinson 2025, Journal: Robinson 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? S3-Pat73 PubMed: Robinson 2025, Journal: Robinson 2025 - - - - - - - - - 1 Johan den Dunnen
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