Unique variants in the PIGV gene

Information The variants shown are described using the NM_017837.3 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 1 - c.-113561_*66600dup r.0? p.0? - pathogenic g.27001256_27190935dup g.26674765_26864444dup - - PIGV_000024 - - - - De novo - - - - - Philippe Campeau
./. 1 - c.-92062_*66261dup - - - pathogenic g.27022755_27190596dup g.26696264_26864105dup - - ARID1A_000099 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
?/. 2 - c.-333C>T r.(=) p.(=) - VUS g.27114484C>T g.26787993C>T - - PIGV_000034 2 homozygous; Clinindb (India), 42 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118069986 Germline - 2/2786 individuals, 42/2786 individuals - - - Mohammed Faruq
+?/. 1 - c.53G>A r.(?) p.(Cys18Tyr) - likely pathogenic g.27117359G>A g.26790868G>A - - PIGV_000022 - PubMed: Horn et al. 2014 - - Germline - - - - - Philippe Campeau
?/. 1 - c.94A>G r.(?) p.(Ile32Val) - VUS g.27120619A>G g.26794128A>G PIGV(NM_001202554.1):c.94A>G (p.(Ile32Val)) - PIGV_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.101C>T r.(?) p.(Pro34Leu) - VUS g.27120626C>T g.26794135C>T PIGV(NM_001202554.1):c.101C>T (p.P34L) - PIGV_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.115G>A r.(?) p.(Glu39Lys) - VUS g.27120640G>A g.26794149G>A PIGV(NM_001202554.1):c.115G>A (p.E39K) - PIGV_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.176T>G r.(?) p.(Leu59Arg) - likely pathogenic g.27120701T>G g.26794210T>G - - PIGV_000021 - PubMed: Horn et al. 2014 - - Germline - - - - - Philippe Campeau
+?/+? 1 - c.265C>T r.(?) p.(Pro89Ser) - likely pathogenic g.27120790C>T g.26794299C>T - - PIGV_000025 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - - - Philippe Campeau
-?/. 1 - c.428A>G r.(?) p.(His143Arg) - likely benign g.27120953A>G g.26794462A>G PIGV(NM_001202554.1):c.428A>G (p.H143R) - PIGV_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.439C>T r.(?) p.(Gln147Ter) - pathogenic g.27120964C>T g.26794473C>T PIGV(NM_001202554.1):c.439C>T (p.Q147*) - PIGV_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/+? 1 - c.452C>T r.(?) p.(Ala151Val) - likely pathogenic g.27120977C>T g.26794486C>T - - PIGV_000026 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - - - Philippe Campeau
+/., +?/. 3 - c.467G>A r.(?) p.(Cys156Tyr) - likely pathogenic, pathogenic g.27120992G>A g.26794501G>A PIGV(NM_001202554.1):c.467G>A (p.C156Y) - PIGV_000005 VKGL data sharing initiative Nederland, 2 more items PubMed: Horn 2011, PubMed: Thompson 2012 - - CLASSIFICATION record, Germline yes - - - - Philippe Campeau, VKGL-NL_Rotterdam
-?/., ?/. 2 - c.473G>A r.(?) p.(Ser158Asn) - likely benign, VUS g.27120998G>A g.26794507G>A PIGV(NM_001202554.1):c.473G>A (p.S158N, p.(Ser158Asn)) - PIGV_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/., +?/. 5 - c.494C>A r.(?) p.(Ala165Glu) - likely pathogenic, pathogenic g.27121019C>A g.26794528C>A PIGV(NM_001202554.1):c.494C>A (p.(Ala165Glu), p.A165E) - PIGV_000006 VKGL data sharing initiative Nederland, 1 more item PubMed: Thompson 2012 - - CLASSIFICATION record, Germline yes - - - - Philippe Campeau, VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.511G>A r.(?) p.(Ala171Thr) - likely benign g.27121036G>A g.26794545G>A PIGV(NM_001202554.1):c.511G>A (p.A171T) - PIGV_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.577G>A r.(?) p.(Val193Ile) - VUS g.27121102G>A g.26794611G>A PIGV(NM_001202554.1):c.577G>A (p.(Val193Ile)) - PIGV_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/+? 1 - c.614A>G r.(?) p.(Asn205Ser) - likely pathogenic g.27121139A>G g.26794648A>G - - PIGV_000027 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - - - Philippe Campeau
+?/. 1 2 c.615C>G r.(?) p.(Asn205Lys) - likely pathogenic g.27121140C>G g.26794649C>G NM_001202554:c.615C>G - PIGV_000017 - PubMed: Xue et al. 2016 - - Germline - - - - - Philippe Campeau
-?/. 1 - c.626G>C r.(?) p.(Ser209Thr) - likely benign g.27121151G>C g.26794660G>C PIGV(NM_001202554.1):c.626G>C (p.(Ser209Thr)) - PIGV_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.766C>A r.(?) p.(Gln256Lys) - pathogenic g.27121291C>A g.26794800C>A - - PIGV_000003 1 more item PubMed: Krawtiz 2010 - rs267606952 Germline yes - - - - Philippe Campeau
+?/. 1 2 c.854A>G r.(?) p.(Tyr285Cys) - likely pathogenic g.27121379A>G g.26794888A>G NM_001202554:c.854A>G - PIGV_000018 - PubMed: Xue et al. 2016 - - Germline - - - - - Philippe Campeau
?/. 1 - c.872A>G r.(?) p.(Asn291Ser) - VUS g.27121397A>G g.26794906A>G PIGV(NM_001202554.1):c.872A>G (p.(Asn291Ser)) - PIGV_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.905T>C r.(?) p.(Leu302Pro) - likely pathogenic g.27121430T>C g.26794939T>C - - PIGV_000020 - PubMed: Horn et al. 2014 - - Germline - - - - - Philippe Campeau
+/+, +?/. 14 3 c.1022C>A r.(?) p.(Ala341Glu) - likely pathogenic, pathogenic g.27121547C>A g.26795056C>A - - PIGV_000001 Alters a conserved residue. It was not found in 4000 exomes., 2 more items PubMed: Horn 2011, PubMed: Horn et al. 2014, PubMed: Krawtiz 2010, PubMed: Reynolds et al. 2017, 1 more item - rs139073416 Germline ?, yes - - - - Philippe Campeau
+/+, +/. 2 - c.1022C>T r.(?) p.(Ala341Val) - pathogenic g.27121547C>T g.26795056C>T - - PIGV_000004 2 more items PubMed: Krawtiz 2010, PubMed: Thompson 2012 - rs139073416 Germline yes - - - - Philippe Campeau
-?/. 1 - c.1079G>A r.(?) p.(Arg360Lys) - likely benign g.27121604G>A - PIGV(NM_001202554.1):c.1079G>A (p.R360K) - PIGV_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1154A>C r.(?) p.(His385Pro) - pathogenic g.27121679A>C g.26795188A>C - - PIGV_000002 1 more item PubMed: Krawtiz 2010 - rs267606951 Germline yes - - - - Philippe Campeau
?/. 1 - c.1189A>G r.(?) p.(Met397Val) - VUS g.27121714A>G g.26795223A>G PIGV(NM_001202554.1):c.1189A>G (p.(Met397Val)) - PIGV_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 4 c.1253C>A r.(?) p.(Ala418Asp) - likely pathogenic g.27124106C>A g.26797615C>A - - PIGV_000019 - PubMed: Reynolds et al. 2017 - - Germline - - - - - Philippe Campeau
-?/. 1 - c.1277C>T r.(?) p.(Pro426Leu) - likely benign g.27124130C>T g.26797639C>T PIGV(NM_001202554.1):c.1277C>T (p.(Pro426Leu)) - PIGV_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/., -?/., ?/. 3 - c.1369C>T r.(?) p.(Leu457Phe) - likely benign, pathogenic, VUS g.27124222C>T g.26797731C>T PIGV(NM_001202554.1):c.1369C>T (p.(Leu457Phe)) - PIGV_000007 VKGL data sharing initiative Nederland, 2 more items PubMed: Howard 2014, PubMed: Thompson 2012 - - CLASSIFICATION record, Germline no, yes - - - - Philippe Campeau, VKGL-NL_Leiden
+?/. 1 - c.1405C>T r.(?) p.(Arg469*) - likely pathogenic g.27124258C>T g.26797767C>T - - PIGV_000023 - PubMed: Horn et al. 2014 - - Germline - - - - - Philippe Campeau
?/. 1 - c.1430C>T r.(?) p.(Thr477Ile) - VUS g.27124283C>T g.26797792C>T PIGV(NM_001202554.1):c.1430C>T (p.(Thr477Ile)) - PIGV_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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