Full data view for gene PIGT

Information The variants shown are described using the NM_015937.5 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     

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Age at death     

VIP     

Data_av     

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Panel size     

Owner     
+/. _1_11_ c.0 r.0 p.0 Parent #2 - pathogenic g.(36500000_36600000)_(44600000_44700000)del - - - PIGT_000003 8 Mb deletion (FISH 92% granulocyte interphase nuclei) PubMed: Krawitz 2013, Journal: Krawitz 2013 - - Somatic - - - 0 - DNA FISH, SEQ, SEQ-NG - - PNH-2 - PubMed: Krawitz 2013, Journal: Krawitz 2013 - F no Germany - - 0 - - 1 Johan den Dunnen
-?/. - c.14T>C r.(?) p.(Met5Thr) Unknown - likely benign g.44044810T>C g.45416170T>C PIGT(NM_001184728.2):c.14T>C (p.(Met5Thr)), PIGT(NM_015937.5):c.14T>C (p.M5T) - PIGT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.14T>C r.(?) p.(Met5Thr) Unknown - likely benign g.44044810T>C g.45416170T>C PIGT(NM_001184728.2):c.14T>C (p.(Met5Thr)), PIGT(NM_015937.5):c.14T>C (p.M5T) - PIGT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.250G>T r.(?) p.(Glu84*) Maternal (confirmed) - likely pathogenic g.44045219G>T g.45416579G>T - - PIGT_000018 - PubMed: Nakashima et al. 2014 - - Germline - - - 0 - DNA SEQ-NG peripheral blood WES - - PubMed: Nakashima 2014 - F no Japan - - 0 - - 1 Philippe Campeau
+?/. - c.250G>T r.(?) p.(Glu84*) Unknown - likely pathogenic g.44045219G>T g.45416579G>T - - PIGT_000018 - PubMed: Kohashi et al. 2018 - - Germline - - - 0 - DNA SEQ-NG - WES - - PubMed: Kohashi 2018 - M no - - - 0 - - 1 Philippe Campeau
-?/. - c.367G>T r.(?) p.(Val123Leu) Unknown - likely benign g.44047493G>T g.45418853G>T PIGT(NM_015937.5):c.367G>T (p.V123L) - PIGT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.367G>T r.(?) p.(Val123Leu) Unknown - likely benign g.44047493G>T g.45418853G>T PIGT(NM_015937.5):c.367G>T (p.V123L) - PIGT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? - c.494-2A>G r.spl? p.? Unknown - likely pathogenic g.44047933A>G g.45419293A>G - - PIGT_000027 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.533G>A r.(?) p.(Arg178Gln) Unknown - benign g.44047974G>A g.45419334G>A PIGT(NM_015937.5):c.533G>A (p.R178Q) - PIGT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.533G>A r.(?) p.(Arg178Gln) Parent #1 - benign g.44047974G>A g.45419334G>A - - PIGT_000006 29 heterozygous; Clinindb (India) Faruq 2020, submtted - rs80158178 Germline - 29/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 29 Mohammed Faruq
-/. - c.533G>A r.(?) p.(Arg178Gln) Both (homozygous) - benign g.44047974G>A g.45419334G>A - - PIGT_000006 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs80158178 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. 4 c.547A>C r.(?) p.(Thr183Pro) Both (homozygous) - pathogenic g.44047988A>C g.45419348A>C - - PIGT_000001 causality supported by functional experiments with morpholino/zebra fish KO and co-injection rescue of wt/variant mRNA PubMed: Kvarnung 2013 - rs587777027 Germline yes - - 0 - DNA SEQ, SEQ-NG - - ID - PubMed: Kvarnung 2013 5-generation family, 4-affecteds (4F), unaffected heterozygous carrier relatives - yes Turkey Aramaic - 0 - - 4 Johan den Dunnen
+/. - c.547A>C r.(?) p.(Thr183Pro) Unknown - pathogenic g.44047988A>C g.45419348A>C NM_015937.5:c.547A>C, p.Thr183Pro - PIGT_000001 CADD score: 26.4 - - - Germline - - - 0 - DNA ? - - MCAHS-3;GPIBD-7 Patient 3 PubMed: Kvarnung et al., 2018 - - - - - - 0 - - 1 Philippe Campeau
+/. 4 c.550G>A r.(?) p.(Glu184Lys) Unknown - pathogenic g.44047991G>A g.45419351G>A - - PIGT_000026 This missense variant was predicted to be likely pathogenic (Proven, Intervar, Polyphen 2, Sift, Mutationtaster, M-CAP, REVEL). - - rs774753616 Germline - MAF: 0.00001626 - 0 - DNA PCRq, SEQ, SEQ-NG-I - - MCAHS-3;GPIBD-7 Proband PubMed: Yang et al., 2018 Homozygous PIGT variant in a Chinese boy with multiple malformations, hypotonia, seizure and profound development delay M no China Chinese >00y10m 0 - Anti-epileptic medications 1 Philippe Campeau
+/. 4 c.550G>A r.(?) p.(Glu184Lys) Unknown - pathogenic g.44047991G>A g.45419351G>A - - PIGT_000026 This missense variant was predicted to be likely pathogenic (Proven, Intervar, Polyphen 2, Sift, Mutationtaster, M-CAP, REVEL). - - rs774753616 Germline - - - 0 - DNA PCRq, SEQ, SEQ-NG-I - - MCAHS-3;GPIBD-7 Proband PubMed: Yang et al., 2018 Homozygous PIGT variant in a Chinese boy with multiple malformations, hypotonia, seizure and profound development delay M no China Chinese >00y10m 0 - Anti-epileptic medications 1 Philippe Campeau
+?/. - c.659T>C r.(?) p.(Val220Ala) Unknown - likely pathogenic g.44048208T>C g.45419568T>C - - PIGT_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.667C>T r.(?) p.(Arg223Cys) Unknown - likely benign g.44048216C>T g.45419576C>T PIGT(NM_001184728.2):c.499C>T (p.(Arg167Cys)) - PIGT_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.675T>C r.(?) p.(Val225=) Unknown - likely benign g.44048224T>C g.45419584T>C PIGT(NM_015937.5):c.675T>C (p.V225=) - PIGT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.675T>C r.(?) p.(Val225=) Unknown - likely benign g.44048224T>C g.45419584T>C PIGT(NM_015937.5):c.675T>C (p.V225=) - PIGT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.675T>C r.(?) p.(Val225=) Unknown - likely benign g.44048224T>C g.45419584T>C PIGT(NM_015937.5):c.675T>C (p.V225=) - PIGT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.689G>A r.(?) p.(Arg230His) Unknown - likely benign g.44048783G>A g.45420143G>A PIGT(NM_015937.5):c.689G>A (p.R230H) - PIGT_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.709G>C r.(?) p.(Glu237Gln) Both (homozygous) - likely pathogenic g.44048803G>C g.45420163G>C - - PIGT_000025 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - DNA SEQ-NG - WES - 270250 PubMed: Pagnamenta 2017 - M yes - Afghanistani - 0 - - 2 Philippe Campeau
+?/. - c.709G>C r.(?) p.(Glu237Gln) Both (homozygous) - likely pathogenic g.44048803G>C g.45420163G>C - - PIGT_000025 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - DNA SEQ-NG - WES - 270306 PubMed: Pagnamenta 2017 - M yes - Afghanistani - 0 - - 1 Philippe Campeau
-?/. - c.770-14G>A r.(=) p.(=) Unknown - likely benign g.44048958G>A g.45420318G>A PIGT(NM_015937.5):c.770-14G>A - PIGT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.770A>C r.(?) p.(Asp257Ala) Unknown - benign g.44048972A>C g.45420332A>C PIGT(NM_015937.5):c.770A>C (p.D257A) - PIGT_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.770A>C r.(?) p.(Asp257Ala) Parent #1 - benign g.44048972A>C g.45420332A>C - - PIGT_000009 66 heterozygous; Clinindb (India) Faruq 2020, submtted - rs61753669 Germline - 66/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 66 Mohammed Faruq
-/. - c.770A>C r.(?) p.(Asp257Ala) Both (homozygous) - benign g.44048972A>C g.45420332A>C - - PIGT_000009 2 homozygous; Clinindb (India) Faruq 2020, submtted - rs61753669 Germline - 2/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
?/. - c.806C>T r.(?) p.(Thr269Met) Unknown - VUS g.44049008C>T g.45420368C>T PIGT(NM_015937.5):c.806C>T (p.T269M) - PIGT_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.917_929del r.(?) p.(Asp306AlafsTer16) Unknown - pathogenic g.44049217_44049229del g.45420577_45420589del PIGT(NM_015937.5):c.917_929delACGTCATCCTAGG (p.D306Afs*16) - PIGT_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.918dup r.(?) p.(Val307Argfs*13) Maternal (confirmed) - likely pathogenic g.44049218dup g.45420578dup - - PIGT_000020 - PubMed: Lam et al. 2015 - - Germline - - - 0 - DNA SEQ-NG peripheral leukocytes WES - Patient_1 PubMed: Lam 2015 - F no - Caucasian mother and African American father - 0 - - 2 Philippe Campeau
+?/. - c.918dup r.(?) p.(Val307Argfs*13) Maternal (confirmed) - likely pathogenic g.44049218dup g.45420578dup - - PIGT_000020 - PubMed: Lam et al. 2015 - - Germline - - - 0 - DNA SEQ-NG peripheral leukocytes WES - Patient_2 PubMed: Lam 2015 - M no - Caucasian mother and African American father - 0 - - 1 Philippe Campeau
-?/. - c.969C>T r.(?) p.(Thr323=) Unknown - likely benign g.44049269C>T g.45420629C>T PIGT(NM_015937.5):c.969C>T (p.T323=) - PIGT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1034-103dup r.(=) p.(=) Unknown - likely benign g.44049920dup g.45421280dup PIGT(NM_015937.5):c.1034-103dupC - PIGT_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1061C>T r.(?) p.(Ala354Val) Unknown - likely benign g.44050050C>T g.45421410C>T PIGT(NM_015937.5):c.1061C>T (p.A354V) - PIGT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1061C>T r.(?) p.(Ala354Val) Unknown - likely benign g.44050050C>T g.45421410C>T PIGT(NM_015937.5):c.1061C>T (p.A354V) - PIGT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1067G>A r.(?) p.(Arg356Gln) Unknown - likely benign g.44050056G>A g.45421416G>A PIGT(NM_015937.5):c.1067G>A (p.R356Q) - PIGT_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1079G>T r.(?) p.(Gly360Val) Both (homozygous) - likely pathogenic g.44050068G>T g.45421428G>T - - PIGT_000021 - PubMed: Skauli et al. 2016 - - Germline - - - 0 - DNA SEQ-NG - WES - Patient_1 PubMed: Skauli 2016 - M yes ? (unknown) Somalian - 0 - - 2 Philippe Campeau
+?/. - c.1079G>T r.(?) p.(Gly360Val) Both (homozygous) - likely pathogenic g.44050068G>T g.45421428G>T - - PIGT_000021 - PubMed: Skauli et al. 2016 - - Germline - - - 0 - DNA SEQ-NG - WES - Patient_2 PubMed: Skauli 2016 - M yes - Somalian - 0 - - 1 Philippe Campeau
+?/. - c.1096G>T r.(?) p.(Gly366Trp) Unknown - likely pathogenic g.44050085G>T g.45421445G>T - - PIGT_000022 - PubMed: Kohashi et al. 2018 - - Germline - - - 0 - DNA SEQ-NG - WES - - PubMed: Kohashi 2018 - M no - - - 0 - - 1 Philippe Campeau
?/. - c.1130C>T r.(?) p.(Pro377Leu) Unknown - VUS g.44050119C>T - PIGT(NM_015937.5):c.1130C>T (p.P377L) - PIGT_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1138G>A r.(?) p.(Ala380Thr) Unknown - likely benign g.44050127G>A g.45421487G>A PIGT(NM_015937.5):c.1138G>A (p.A380T) - PIGT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1145C>T r.(?) p.(Pro382Leu) Unknown - likely benign g.44050134C>T g.45421494C>T PIGT(NM_001184728.2):c.977C>T (p.(Pro326Leu)) - PIGT_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1165G>A r.(?) p.(Val389Ile) Unknown - VUS g.44050154G>A g.45421514G>A - - PIGT_000042 - PubMed: Marcogliese 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NDD, VMD Pat4 PubMed: Marcogliese 2018 2-generation family, 1 affected, unaffected parents F - - - - 0 - - 1 Johan den Dunnen
+?/. - c.1342C>T r.(?) p.(Arg448Trp) Paternal (confirmed) - likely pathogenic g.44052963C>T g.45424323C>T - - PIGT_000019 - PubMed: Nakashima et al. 2014 - - Germline - - - 0 - DNA SEQ-NG peripheral blood WES - - PubMed: Nakashima 2014 - F no Japan - - 0 - - 1 Philippe Campeau
+?/. - c.1342C>T r.(?) p.(Arg448Trp) Paternal (confirmed) - likely pathogenic g.44052963C>T g.45424323C>T - - PIGT_000019 - PubMed: Lam et al. 2015 - - Germline - - - 0 - DNA SEQ-NG peripheral leukocytes WES - Patient_1 PubMed: Lam 2015 - F no - Caucasian mother and African American father - 0 - - 2 Philippe Campeau
+?/. - c.1342C>T r.(?) p.(Arg448Trp) Paternal (confirmed) - likely pathogenic g.44052963C>T g.45424323C>T - - PIGT_000019 - PubMed: Lam et al. 2015 - - Germline - - - 0 - DNA SEQ-NG peripheral leukocytes WES - Patient_2 PubMed: Lam 2015 - M no - Caucasian mother and African American father - 0 - - 1 Philippe Campeau
?/. - c.1363G>C r.(?) p.(Glu455Gln) Unknown - VUS g.44052984G>C g.45424344G>C PIGT(NM_015937.5):c.1363G>C (p.E455Q) - PIGT_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 10i c.1401-2A>G r.1401_1484del p.Ser467_Leu495delinsArg Parent #1 - pathogenic g.44053134A>G g.45424494A>G - - PIGT_000002 variant detected in 1239/1463 reads PubMed: Krawitz 2013, Journal: Krawitz 2013 - rs587777028 Germline - - - 0 - DNA FISH, SEQ, SEQ-NG - - PNH-2 - PubMed: Krawitz 2013, Journal: Krawitz 2013 - F no Germany - - 0 - - 1 Johan den Dunnen
-?/. - c.1416C>T r.(?) p.(Ser472=) Unknown - likely benign g.44053151C>T g.45424511C>T PIGT(NM_015937.5):c.1416C>T (p.S472=) - PIGT_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1417G>A r.(?) p.(Ala473Thr) Unknown - likely benign g.44053152G>A g.45424512G>A PIGT(NM_015937.5):c.1417G>A (p.A473T) - PIGT_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? - c.1472T>A r.(?) p.(Leu491His) Unknown - likely pathogenic g.44053207T>A g.45424567T>A - - PIGT_000028 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? - c.1484+2T>A r.spl? p.? Unknown - likely pathogenic g.44053221T>A g.45424581T>A - - PIGT_000029 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1582G>A r.(?) p.(Val528Met) Maternal (confirmed) - likely pathogenic g.44054311G>A g.45425671G>A - - PIGT_000023 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - DNA SEQ-NG - WES - 258094 PubMed: Pagnamenta 2017 - F no - Caucasian - 0 - - 1 Philippe Campeau
-?/. - c.1707C>T r.(?) p.(Ile569=) Unknown - likely benign g.44054436C>T g.45425796C>T PIGT(NM_015937.5):c.1707C>T (p.I569=) - PIGT_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1730dup r.(?) p.(Leu578Thrfs*35) Paternal (confirmed) - likely pathogenic g.44054459dup g.45425819dup - - PIGT_000024 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - DNA SEQ-NG - WES - 258094 PubMed: Pagnamenta 2017 - F no - Caucasian - 0 - - 1 Philippe Campeau
Legend