Full data view for gene PIGG

Information The variants shown are described using the NM_001127178.1 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.-421573_*2842479del r.0? p.0? Unknown - pathogenic g.71552_3375637del - - - IDUA_000000 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+/. _1_13_ c.0 r.0 p.0 Maternal (inferred) - pathogenic g.(pter_60226)_(2452836_2500000)del - chr4: 60,226–2,452,836del - PIGG_000006 - PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 - - De novo - - - - - DNA PCRq, SEQ, SEQ-NG-I - - ID 26996948-FamJPPatV6[JP01] PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - >03y - - - 1 Jamie Zeegers
?/. - c.228G>T r.(?) p.(Leu76Phe) Unknown - VUS g.494258G>T - PIGG(NM_001127178.2):c.228G>T (p.L76F), PIGG(NM_001127178.3):c.228G>T (p.(Leu76Phe)) - PIGG_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.228G>T r.(?) p.(Leu76Phe) Unknown - VUS g.494258G>T - PIGG(NM_001127178.2):c.228G>T (p.L76F), PIGG(NM_001127178.3):c.228G>T (p.(Leu76Phe)) - PIGG_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.309_310del r.(?) p.(His103GlnfsTer5) Unknown - VUS g.494339_494340del g.500550_500551del PIGG(NM_001127178.1):c.307_308del (p.(His103GlnfsTer5)) - PIGG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.394G>A r.(?) p.(Asp132Asn) Unknown - VUS g.499540G>A - PIGG(NM_001289051.1):c.127G>A (p.D43N) - PIGG_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.422C>T r.(?) p.(Ala141Val) Unknown - likely benign g.499568C>T - PIGG(NM_001127178.3):c.422C>T (p.A141V) - PIGG_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.712G>A r.(?) p.(Glu238Lys) Unknown - VUS g.501335G>A - PIGG(NM_001127178.3):c.712G>A (p.(Glu238Lys)) - PIGG_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.724G>A r.(?) p.(Val242Met) Unknown - likely benign g.501347G>A - PIGG(NM_001127178.3):c.724G>A (p.V242M) - PIGG_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.750G>A r.(?) p.(Leu250=) Unknown - likely benign g.501373G>A - PIGG(NM_001127178.3):c.750G>A (p.L250=) - PIGG_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.812T>G r.(?) p.(Met271Arg) Unknown - VUS g.502670T>G - - - PIGG_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.852G>A r.(?) p.(Glu284=) Unknown - likely benign g.502710G>A g.508921G>A PIGG(NM_001345986.1):c.585G>A (p.E195=) - PIGG_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.867G>T r.(?) p.(=) Unknown - VUS g.502725G>T - PIGG(NM_001127178.3):c.867G>T (p.(Leu289=)) - PIGG_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.901G>A r.(?) p.(Gly301Ser) Unknown - VUS g.502759G>A - PIGG(NM_001127178.2):c.901G>A (p.G301S) - PIGG_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.928C>T r.(?) p.(Gln310*) Both (homozygous) - pathogenic g.509788C>T g.515999C>T - - PIGG_000004 - PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ID 26996948-FamPatV1[EG01] PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 2-generation family, 2-affected sisters, PatV1[EG01] F yes Egypt - >24y - - Combiantion of valproate and carbamazepine 2 Jamie Zeegers
+/. 6 c.928C>T r.(?) p.(Gln310*) Both (homozygous) - pathogenic g.509788C>T g.515999C>T - - PIGG_000004 - PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ID 26996948-FamPatV5[EG02] PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 PatV5[EG02] F yes Egypt - >14y - - Combiantion of valproate and topiramate 1 Jamie Zeegers
?/. - c.974C>G r.(?) p.(Pro325Arg) Unknown - VUS g.509834C>G g.516045C>G PIGG(NM_001127178.1):c.974C>G (p.(Pro325Arg)) - PIGG_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1114+8A>G r.(=) p.(=) Unknown - likely benign g.509982A>G g.516193A>G PIGG(NM_001127178.3):c.1114+8A>G, PIGG(NM_001345994.1):c.-99+8A>G - PIGG_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1114+8A>G r.(=) p.(=) Unknown - likely benign g.509982A>G - PIGG(NM_001127178.3):c.1114+8A>G, PIGG(NM_001345994.1):c.-99+8A>G - PIGG_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1114+9A>G r.(=) p.(=) Parent #1 - benign g.509983A>G g.516194A>G - - PIGG_000031 27 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150974506 Germline - 27/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 27 Mohammed Faruq
-?/. - c.1254G>A r.(?) p.(Thr418=) Unknown - likely benign g.514984G>A g.521195G>A PIGG(NM_001127178.2):c.1254G>A (p.T418=), PIGG(NM_001127178.3):c.1254G>A (p.T418=) - PIGG_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1254G>A r.(?) p.(Thr418=) Unknown - likely benign g.514984G>A - PIGG(NM_001127178.2):c.1254G>A (p.T418=), PIGG(NM_001127178.3):c.1254G>A (p.T418=) - PIGG_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1372C>T r.(?) p.(Arg458Cys) Unknown - likely benign g.515488C>T - PIGG(NM_001127178.2):c.1372C>T (p.R458C) - PIGG_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1387C>G r.(?) p.(Leu463Val) Unknown - likely benign g.515503C>G - PIGG(NM_001127178.3):c.1387C>G (p.L463V) - PIGG_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1451C>T r.(?) p.(Ser484Leu) Unknown - likely benign g.515567C>T g.521778C>T PIGG(NM_001127178.1):c.1451C>T (p.(Ser484Leu)), PIGG(NM_001345994.1):c.353C>T (p.S118L) - PIGG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1451C>T r.(?) p.(Ser484Leu) Unknown - likely benign g.515567C>T - PIGG(NM_001127178.1):c.1451C>T (p.(Ser484Leu)), PIGG(NM_001345994.1):c.353C>T (p.S118L) - PIGG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1515G>A r.(?) p.(Trp505Ter) Unknown - pathogenic g.515631G>A g.521842G>A PIGG(NM_001127178.2):c.1515G>A (p.W505*), PIGG(NM_001127178.3):c.1515G>A (p.(Trp505Ter), p.W505*) - PIGG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1515G>A r.(?) p.(Trp505Ter) Unknown - likely pathogenic g.515631G>A g.521842G>A PIGG(NM_001127178.2):c.1515G>A (p.W505*), PIGG(NM_001127178.3):c.1515G>A (p.(Trp505Ter), p.W505*) - PIGG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1515G>A r.(?) p.(Trp505Ter) Unknown - likely pathogenic g.515631G>A - PIGG(NM_001127178.2):c.1515G>A (p.W505*), PIGG(NM_001127178.3):c.1515G>A (p.(Trp505Ter), p.W505*) - PIGG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1515G>A r.(?) p.(Trp505Ter) Unknown - pathogenic g.515631G>A - PIGG(NM_001127178.2):c.1515G>A (p.W505*), PIGG(NM_001127178.3):c.1515G>A (p.(Trp505Ter), p.W505*) - PIGG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1515G>A r.(?) p.(Trp505*) Both (homozygous) ACMG pathogenic (recessive) g.515631G>A g.521842G>A - - PIGG_000016 - - - rs150259543 Germline ? - - - - DNA SEQ-NG-I blood WES (whole exome sequencing) MRT53;GPIBD13 - - - F no Brazil;(Brazil) - - - - - 1 Pedro Henrique Marte de Arruda Sampaio
?/. - c.1614+4C>T r.spl? p.? Unknown - VUS g.515734C>T - PIGG(NM_001289053.1):c.1351C>T (p.R451C) - PIGG_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1614+115G>A r.(=) p.(=) Unknown - likely benign g.515845G>A - PIGG(NM_001127178.2):c.1614+115G>A - PIGG_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1614+247G>A r.(=) p.(=) Unknown - VUS g.515977G>A - PIGG(NM_001345989.2):c.1814G>A (p.(Arg605Lys)) - PIGG_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1614+255C>T r.(=) p.(=) Unknown - likely pathogenic g.515985C>T - PIGG(NM_001345989.2):c.1822C>T (p.(Arg608Ter)) - PIGG_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1640G>A r.(?) p.(Trp547*) Both (homozygous) - likely pathogenic g.517273G>A g.523484G>A - - PIGG_000009 - PubMed: Zhao et al. 2017 - - Germline - - - - - DNA SEQ-NG - WES ID - PubMed: Zhao 2017 - M no Palestine - - - - - 2 Philippe Campeau
+?/. - c.1640G>A r.(?) p.(Trp547*) Both (homozygous) - likely pathogenic g.517273G>A g.523484G>A - - PIGG_000009 - PubMed: Zhao et al. 2017 - - Germline - - - - - DNA SEQ-NG - WES ID - PubMed: Zhao 2017 - F no Palestine - - - - - 1 Philippe Campeau
+?/. - c.1671_1695delinsCCACGTCTTGAGCCT r.(?) p.(Thr558Hisfs*22) Unknown ACMG likely pathogenic g.517304_517328delinsCCACGTCTTGAGCCT g.523515_523539delinsCCACGTCTTGAGCCT - - PIGG_000029 ACMG PVS1, PM2 - - - Germline ? - - - - DNA SEQ-NG-I - - ataxia, DD 158025 - - F ? Greece - - - - - 1 Andreas Laner
-?/. - c.1773A>C r.(?) p.(Gln591His) Unknown - likely benign g.517406A>C g.523617A>C PIGG(NM_001127178.2):c.1773A>C (p.Q591H) - PIGG_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1829G>T r.(?) p.(Cys610Phe) Unknown - likely benign g.517462G>T g.523673G>T PIGG(NM_001127178.1):c.1829G>T (p.(Cys610Phe)) - PIGG_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1954T>C r.(?) p.(Trp652Arg) Unknown - VUS g.517587T>C g.523798T>C - - PIGG_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1996_2005del r.(?) p.(Arg666Alafs*3) Both (homozygous) - likely pathogenic g.517629_517638del g.523840_523849del 1996_2005delCGGCTGCTGC - PIGG_000030 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+?/. - c.2005C>T r.(?) p.(Arg669Cys) Paternal (confirmed) - likely pathogenic g.517638C>T g.523849C>T - - PIGG_000001 - PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 - - Germline - - - - - DNA PCRq, SEQ, SEQ-NG-I - - ID 26996948-FamJPPatV6[JP01] PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - >03y - - - 1 Jamie Zeegers
-?/. - c.2050C>T r.(?) p.(Leu684Phe) Unknown - likely benign g.517683C>T - PIGG(NM_001345994.1):c.952C>T (p.L318F) - PIGG_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2204G>A r.(?) p.(Arg735Gln) Unknown - VUS g.520962G>A - PIGG(NM_001345994.1):c.1106G>A (p.R369Q) - PIGG_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2215G>A r.(?) p.(Gly739Arg) Unknown - VUS g.520973G>A g.527184G>A PIGG(NM_001127178.2):c.2215G>A (p.G739R) - PIGG_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10i c.2261+1G>C r.spl p.? Both (homozygous) - pathogenic g.521020G>C g.527231G>C - - PIGG_000005 - PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ID 26996948-FamPKPatV6[JP01] PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 4-generation family, affected brothers, unaffected heterozygous carrier parents M yes Pakistan - >12y - - - 2 Jamie Zeegers
+/. 10i c.2261+1G>C r.spl p.? Both (homozygous) - pathogenic g.521020G>C g.527231G>C - - PIGG_000005 - PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ID 26996948-FamPKPatV10[PK02] PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 - M yes Pakistan - >10y - - - 1 Jamie Zeegers
-?/. - c.2505G>T r.(?) p.(Leu835=) Unknown - likely benign g.524468G>T - PIGG(NM_001345994.1):c.1407G>T (p.L469=) - PIGG_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2600_2601delTA r.(?) p.(Leu867*) Both (homozygous) - pathogenic g.527635_527636delTA - c.2600_2601delTA p.(Leu867*) (hom) [NM_017733.3] - PIGG_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - WGS Illumina NEDHCAS 28771251-Pat64 PubMed: Lionel et al., 2018 Variant found in a patient with a clinical phenotype suggestive of an underlying genetic disorder using WGS M - Canada - - - - - 1 Philippe Campeau
+/. - c.2624_2625del r.(?) p.(Leu875Ter) Unknown - pathogenic g.527659_527660del g.533870_533871del PIGG(NM_001127178.3):c.2624_2625delTA (p.L875*), PIGG(NM_001345994.2):c.1526_1527delTA (p.L509*) - PIGG_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2624_2625del r.(?) p.(Leu875Ter) Unknown - likely pathogenic g.527659_527660del - PIGG(NM_001127178.3):c.2624_2625delTA (p.L875*), PIGG(NM_001345994.2):c.1526_1527delTA (p.L509*) - PIGG_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2680G>A r.(?) p.(Gly894Arg) Unknown ACMG VUS g.527715G>A g.533926G>A - - PIGG_000028 ACMG PM2, PP3 - - - Germline ? - - - - DNA SEQ-NG-I - - ataxia, DD 158025 - - F ? Greece - - - - - 1 Andreas Laner
-?/. - c.2769C>T r.(?) p.(Tyr923=) Unknown - likely benign g.532975C>T g.539186C>T PIGG(NM_001127178.2):c.2769C>T (p.Y923=) - PIGG_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2834T>G r.(?) p.(Leu945*) Unknown - likely pathogenic g.533040T>G - PIGG(NM_001127178.3):c.2834T>G (p.L945*) - PIGG_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2871C>A r.(?) p.(Tyr957Ter) Unknown - pathogenic g.533077C>A g.539288C>A PIGG(NM_001127178.2):c.2871C>A (p.Y957*) - PIGG_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2918C>T r.(?) p.(Thr973Met) Unknown - VUS g.533124C>T g.539335C>T PIGG(NM_001127178.2):c.2918C>T (p.T973M) - PIGG_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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