Full data view for gene PLD1

Information The variants shown are described using the NM_002662.4 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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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.16G>A r.(?) p.(Glu6Lys) Paternal (confirmed) - pathogenic (recessive) g.171455826C>T g.171738036C>T E6K - PLD1_000017 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamC Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - 1 Johan den Dunnen
-?/. - c.161-3del r.spl? p.? Unknown - likely benign g.171455461del - PLD1(NM_002662.5):c.161-3del - PLD1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.195A>G r.(?) p.(Gln65=) Unknown - likely benign g.171455415T>C g.171737625T>C PLD1(NM_002662.4):c.195A>G (p.Q65=) - PLD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.494G>A r.(?) p.(Arg165His) Unknown - benign g.171452701C>T g.171734911C>T PLD1(NM_002662.5):c.494G>A (p.R165H) - PLD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.709G>T r.(?) p.(Gly237Cys) Maternal (confirmed) - pathogenic (recessive) g.171442535C>A g.171724745C>A G237C - PLD1_000027 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamM Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.709G>T r.(?) p.(Gly237Cys) Unknown - VUS g.171442535C>A - PLD1(NM_002662.5):c.709G>T (p.G237C) - PLD1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.766_768del r.(?) p.(Ile256del) Unknown - VUS g.171431828_171431830del - PLD1(NM_002662.5):c.766_768delATA (p.I256del) - PLD1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.868G>C r.(?) p.(Glu290Gln) Paternal (confirmed) - pathogenic (recessive) g.171431726C>G g.171713936C>G E290Q - PLD1_000026 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamM Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.892C>T r.(?) p.(Arg298Ter) Unknown - pathogenic g.171431702G>A g.171713912G>A PLD1(NM_002662.5):c.892C>T (p.R298*) - PLD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.892C>T r.(?) p.(Arg298*) Paternal (confirmed) - pathogenic (recessive) g.171431702G>A g.171713912G>A R298X - PLD1_000010 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamR Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1061^1062G>A r.spl? p.(Trp354*) Maternal (confirmed) - pathogenic (recessive) g.171426628^171427350C>T g.171708838^171709560C>T W354Ter - PLD1_000028 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamQ Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected fetus, unaffected heterozygous carrier parents - - - - - - - - 3 Johan den Dunnen
?/. - c.1085T>C r.(?) p.(Phe362Ser) Unknown - VUS g.171426605A>G g.171708815A>G - - PLD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1085T>C r.(?) p.(Phe362Ser) Maternal (confirmed) - pathogenic (recessive) g.171426605A>G g.171708815A>G F362S - PLD1_000009 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamD Lahrouchi ESHG2020 C05.3 2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents - - - - - - - - 2 Johan den Dunnen
+/. 11i_19i c.(1145+1_1146-1)_(2229+1_2239-1)dup r.? p.? Paternal (confirmed) - pathogenic (recessive) g.(171379952_171392289)_(171417617_171426544)dup g.(171662162_171674499)_(171699827_171708754)dup dup ex12-19 - PLD1_000021 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamF Lahrouchi ESHG2020 C05.3 2-generation family, 2 affected, unaffected heterozygous carrier parents M - - - - - - - 2 Johan den Dunnen
?/. - c.1171C>T r.(?) p.(Arg391Cys) Unknown - VUS g.171417591G>A g.171699801G>A - - PLD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1171C>T r.(?) p.(Arg391Cys) Paternal (confirmed) - pathogenic (recessive) g.171417591G>A g.171699801G>A R391C - PLD1_000008 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamD Lahrouchi ESHG2020 C05.3 2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents - - - - - - - - 2 Johan den Dunnen
-?/. - c.1192C>T r.(?) p.(Arg398Cys) Unknown - likely benign g.171417570G>A - PLD1(NM_002662.5):c.1192C>T (p.(Arg398Cys)) - PLD1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1325A>C r.(?) p.(His442Pro) Both (homozygous) - pathogenic (recessive) g.171410135T>G g.171692345T>G A1325C - PLD1_000011 - PubMed: Ta-Shma 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CHD FamA PubMed: Ta-Shma 2017 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents F;M yes Israel - - - - - 3 Johan den Dunnen
+/. - c.1391A>G r.(?) p.(His464Arg) Maternal (confirmed) - pathogenic (recessive) g.171406614T>C g.171688824T>C H464R - PLD1_000019 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamE Lahrouchi ESHG2020 C05.3 2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents - - - - - - - - 2 Johan den Dunnen
+/. - c.1403T>A r.(?) p.(Val468Asp) Maternal (confirmed) - pathogenic (recessive) g.171406602A>T g.171688812A>T V468D - PLD1_000030 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamT Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1484_1485del r.(?) p.(Thr495Argfs*33) Both (homozygous) - pathogenic (recessive) g.171406522_171406523del g.171688732_171688733del - - PLD1_000012 - PubMed: Ta-Shma 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CHD FamBPatII1 PubMed: Ta-Shma 2017 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F;M yes Israel - - - - - 3 Johan den Dunnen
+/. - c.1484_1485del r.(?) p.(Thr495Argfs*33) Paternal (confirmed) - pathogenic (recessive) g.171406522_171406523del g.171688732_171688733del - - PLD1_000012 - PubMed: Ta-Shma 2017 - - Germline yes - - - - DNA SEQ - - CHD FamBPatII3 PubMed: Ta-Shma 2017 distant relative M - Israel - - - - - 1 Johan den Dunnen
-?/. - c.1716C>T r.(?) p.(=) Unknown - likely benign g.171405198G>A - PLD1(NM_002662.5):c.1716C>T (p.(His572=)) - PLD1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1868-1G>T r.spl? p.? Unknown - pathogenic g.171395485C>A - PLD1(NM_002662.5):c.1868-1G>T - PLD1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2002A>T r.(?) p.(Ile668Phe) Both (homozygous) - pathogenic (recessive) g.171394618T>A g.171676828T>A I668F - PLD1_000034 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamG Lahrouchi ESHG2020 C05.3 2-generation family, 2 affected, unaffected heterozygous carrier parents M yes - Jewish-Ashkenazi - - - - 2 Johan den Dunnen
+/. - c.2002A>T r.(?) p.(Ile668Phe) Both (homozygous) - pathogenic (recessive) g.171394618T>A g.171676828T>A I668F - PLD1_000034 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamH Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.2002A>T r.(?) p.(Ile668Phe) Both (homozygous) - pathogenic (recessive) g.171394618T>A g.171676828T>A I668F - PLD1_000034 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamI Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.2002A>T r.(?) p.(Ile668Phe) Paternal (confirmed) - pathogenic (recessive) g.171394618T>A g.171676828T>A I668F - PLD1_000034 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamK Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.2023C>T r.(?) p.(Arg675Trp) Paternal (confirmed) - pathogenic (recessive) g.171394597G>A g.171676807G>A R675W - PLD1_000024 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamL Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.2024G>A r.(?) p.(Arg675Gln) Paternal (confirmed) - pathogenic (recessive) g.171394596C>T g.171676806C>T R675Q - PLD1_000029 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamT Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.2083C>T r.(?) p.(Arg695Cys) Both (homozygous) - pathogenic (recessive) g.171394537G>A g.171676747G>A R695C - PLD1_000014 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CHD FamA Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Netherlands - - - - - 2 Johan den Dunnen
+?/. - c.2083C>T r.(?) p.(Arg695Cys) Both (homozygous) ACMG likely pathogenic (recessive) g.171394537G>A g.171676747G>A - - PLD1_000014 ACMG: PS3, PM3, PM2_SUP PMID:33645542: found in homoz state in 2 affected from one consanguinous family, enzyme acticity 0% compared to WT VCV000992859.1 - Germline - - - - - DNA SEQ-NG-I amniotic fluid - CVDP1 283496 - prenatal trio exom after ultrasound abnormalities; family, 2 affected F yes Saudi Arabia - - - - - 2 Andreas Laner
+/. - c.2098C>T r.(?) p.(Arg700Cys) Maternal (confirmed) - pathogenic (recessive) g.171394522G>A g.171676732G>A R700C - PLD1_000025 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamL Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.2098C>T r.(?) p.(Arg700Cys) Maternal (confirmed) - pathogenic (recessive) g.171394522G>A g.171676732G>A R700C - PLD1_000025 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamP Lahrouchi ESHG2020 C05.3 2-generation family, 3 affected fetuses, unaffected heterozygous carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - c.2134C>T r.(?) p.(Arg712Trp) Maternal (confirmed) - pathogenic (recessive) g.171392385G>A g.171674595G>A R712W - PLD1_000018 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamC Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - c.2191A>T r.(?) p.(Arg731Ter) Unknown - pathogenic g.171392328T>A g.171674538T>A PLD1(NM_002662.5):c.2191A>T (p.R731*) - PLD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2191A>T r.(?) p.(Arg731*) Paternal (confirmed) - pathogenic (recessive) g.171392328T>A g.171674538T>A R731* - PLD1_000007 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamS Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.2236C>T r.(?) p.(Arg746Cys) Maternal (confirmed) - pathogenic (recessive) g.171379954G>A g.171662164G>A R746C - PLD1_000023 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamK Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.2416del r.(?) p.(Leu806Ter) Unknown - pathogenic g.171377017del g.171659227del PLD1(NM_002662.5):c.2416delC (p.L806*) - PLD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2416del r.(?) p.(Leu806*) Maternal (confirmed) - pathogenic (recessive) g.171377017del g.171659227del Leu806fs*0 - PLD1_000003 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamR Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.2452T>C r.(?) p.(Tyr818His) Both (homozygous) - pathogenic (recessive) g.171362791A>G g.171645001A>G Y818H - PLD1_000022 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamJ Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.2476G>M r.(?) p.(Gly826Arg) Maternal (confirmed) - pathogenic (recessive) g.171362767C>K g.171644977C>K G826R - PLD1_000016 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamB Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - c.2542A>T r.(?) p.(Arg848Ter) Unknown - pathogenic g.171362701T>A g.171644911T>A PLD1(NM_002662.5):c.2542A>T (p.R848*) - PLD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2543G>C r.spl? p.(Arg848Thr) Maternal (confirmed) - pathogenic (recessive) g.171362700C>G g.171644910C>G R848T - PLD1_000031 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamS Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.2567C>G r.(?) p.(Ser856Cys) Unknown - VUS g.171360656G>C g.171642866G>C PLD1(NM_002662.4):c.2567C>G (p.S856C) - PLD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2593+12C>T r.(=) p.(=) Unknown - likely benign g.171360618G>A - PLD1(NM_002662.5):c.2593+12C>T - PLD1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2681A>C r.(?) p.(Tyr894Ser) Paternal (confirmed) - pathogenic (recessive) g.171338223T>G g.171620433T>G Y894S - PLD1_000035 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamP Lahrouchi ESHG2020 C05.3 2-generation family, 3 affected fetuses, unaffected heterozygous carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - c.2681A>C r.(?) p.(Tyr894Ser) Paternal (confirmed) - pathogenic (recessive) g.171338223T>G g.171620433T>G Y894S - PLD1_000035 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamQ Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected fetus, unaffected heterozygous carrier parents - - - - - - - - 3 Johan den Dunnen
+/. - c.2729G>T r.(?) p.(Gly910Val) Paternal (confirmed) - pathogenic (recessive) g.171330222C>A g.171612432C>A G910V - PLD1_000015 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamB Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - c.2867G>A r.(?) p.(Arg956Gln) Unknown - VUS g.171330084C>T - PLD1(NM_002662.5):c.2867G>A (p.R956Q) - PLD1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2882+2T>C r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.171330067A>G g.171612277A>G - - PLD1_000013 - PubMed: Ta-Shma 2017 - - Germline - - - - - DNA SEQ - - CHD FamBPatII3 PubMed: Ta-Shma 2017 distant relative M - Israel - - - - - 1 Johan den Dunnen
+/. - c.(2884del) r.(?) p.(Val962Leufs*17) Paternal (confirmed) - pathogenic (recessive) g.(171323205del) g.(171605415del) V962Ffs* - PLD1_000000 Variant Error [ESYNTAX]: This genomic variant has an error (char 25: expected one of ')', '_', or a digit). Please fix this entry and then remove this message. Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamE Lahrouchi ESHG2020 C05.3 2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents - - - - - - - - 2 Johan den Dunnen
?/. - c.3052G>A r.(?) p.(Asp1018Asn) Unknown - VUS g.171321041C>T g.171603251C>T PLD1(NM_002662.5):c.3052G>A (p.D1018N) - PLD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3142C>G r.(?) p.(Pro1048Ala) Maternal (confirmed) - pathogenic (recessive) g.171320951G>C g.171603161G>C P1048A - PLD1_000020 - Lahrouchi ESHG2020 C05.3 - - Germline - - - - - DNA SEQ - - CHD FamF Lahrouchi ESHG2020 C05.3 2-generation family, 2 affected, unaffected heterozygous carrier parents M - - - - - - - 2 Johan den Dunnen
-/. - c.3186G>A r.(?) p.(=) Unknown - benign g.171320907C>T - PLD1(NM_002662.5):c.3186G>A (p.(Gly1062=)) - PLD1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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