Full data view for gene PXDN

Information The variants shown are described using the NM_012293.1 transcript reference sequence.

127 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.3609‐1G>C r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.1648525C>G g.1644753C>G - - PXDN_000079 ACMG PVS1, PM2, PP1 PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F45‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1A>G r.(?) p.(Met1?) Maternal (confirmed) - likely pathogenic g.1748227T>C g.1744455T>C - - PXDN_000029 - - - - Germline - - - - - DNA SEQ-NG - - - - - - - - - - - - - - - -
-?/. - c.19G>T r.(?) p.(Gly7Cys) Unknown - likely benign g.1748209C>A g.1744437C>A PXDN(NM_012293.2):c.19G>T (p.G7C), PXDN(NM_012293.3):c.19G>T (p.G7C) - PXDN_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.19G>T r.(?) p.(Gly7Cys) Unknown - likely benign g.1748209C>A g.1744437C>A PXDN(NM_012293.2):c.19G>T (p.G7C), PXDN(NM_012293.3):c.19G>T (p.G7C) - PXDN_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165G>A r.(?) p.(Glu55=) Unknown - benign g.1748063C>T g.1744291C>T PXDN(NM_012293.2):c.165G>A (p.E55=), PXDN(NM_012293.3):c.165G>A (p.E55=) - PXDN_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165G>A r.(?) p.(Glu55=) Unknown - likely benign g.1748063C>T - PXDN(NM_012293.2):c.165G>A (p.E55=), PXDN(NM_012293.3):c.165G>A (p.E55=) - PXDN_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.272+18A>G r.(=) p.(=) Unknown - benign g.1696817T>C g.1693045T>C PXDN(NM_012293.3):c.272+18A>G - PXDN_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273-17T>C r.(=) p.(=) Unknown - likely benign g.1695788A>G - PXDN(NM_012293.3):c.273-17T>C - PXDN_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273G>A r.(?) p.(Leu91=) Unknown - likely benign g.1695771C>T g.1691999C>T PXDN(NM_012293.2):c.273G>A (p.L91=) - PXDN_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.455A>T r.(?) p.(Asp152Val) Unknown - likely benign g.1687885T>A g.1684113T>A PXDN(NM_012293.3):c.455A>T (p.D152V) - PXDN_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.459G>A r.(?) p.(Ser153=) Unknown - benign g.1687881C>T g.1684109C>T PXDN(NM_012293.3):c.459G>A (p.S153=) - PXDN_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.488+8G>C r.(=) p.(=) Unknown - likely benign g.1687844C>G - PXDN(NM_012293.3):c.488+8G>C - PXDN_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.531A>G r.(?) p.(Thr177=) Unknown - benign g.1687457T>C g.1683685T>C PXDN(NM_012293.3):c.531A>G (p.T177=) - PXDN_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.631G>A r.(?) p.(Ala211Thr) Unknown - VUS g.1684064C>T - PXDN(NM_012293.2):c.631G>A (p.A211T) - PXDN_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.646G>A r.(?) p.(Ala216Thr) Unknown - likely benign g.1684049C>T g.1680277C>T PXDN(NM_012293.2):c.646G>A (p.A216T) - PXDN_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.648G>A r.(?) p.(Ala216=) Unknown - likely benign g.1684047C>T - PXDN(NM_012293.2):c.648G>A (p.A216=), PXDN(NM_012293.3):c.648G>A (p.A216=) - PXDN_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.648G>A r.(?) p.(Ala216=) Unknown - likely benign g.1684047C>T - PXDN(NM_012293.2):c.648G>A (p.A216=), PXDN(NM_012293.3):c.648G>A (p.A216=) - PXDN_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.693_697dup r.(?) p.(Val233Alafs*11) Paternal (confirmed) - likely pathogenic g.1683999_1684003dup g.1680227_1680231dup - - PXDN_000028 - - - - Germline - - - - - DNA SEQ-NG - - MCOP - - - F no - - - - - - 1 Celia Zazo-Seco
?/. - c.773C>T r.(?) p.(Thr258Ile) Unknown - VUS g.1680774G>A g.1677002G>A PXDN(NM_012293.2):c.773C>T (p.T258I), PXDN(NM_012293.3):c.773C>T (p.T258I) - PXDN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.773C>T r.(?) p.(Thr258Ile) Unknown - VUS g.1680774G>A g.1677002G>A PXDN(NM_012293.2):c.773C>T (p.T258I), PXDN(NM_012293.3):c.773C>T (p.T258I) - PXDN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.819C>T r.(?) p.(=) Unknown - likely benign g.1680728G>A - PXDN(NM_012293.3):c.819C>T (p.P273=) - PXDN_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 9 c.947A>C r.(?) p.(Gln316Pro) Paternal (confirmed) - likely pathogenic g.1677486T>G g.1673714T>G 71139A>C - PXDN_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CTRCT - - - - - - - - - - - 1 Anne Slavotinek
-?/. - c.969C>T r.(?) p.(Ala323=) Unknown - likely benign g.1677464G>A - PXDN(NM_012293.2):c.969C>T (p.A323=), PXDN(NM_012293.3):c.969C>T (p.A323=) - PXDN_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.969C>T r.(?) p.(Ala323=) Unknown - likely benign g.1677464G>A - PXDN(NM_012293.2):c.969C>T (p.A323=), PXDN(NM_012293.3):c.969C>T (p.A323=) - PXDN_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1018+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.1677414C>T g.1673642C>T - - PXDN_000099 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 10DG1905 PubMed: Patel 2017 simplex case - - - - - - - - 1 Johan den Dunnen
+?/. - c.1019-1G>T r.spl p.? Parent #1 - likely pathogenic (recessive) g.1670259C>A g.1666487C>A - - PXDN_000101 ACMG PSV1, PM2 PubMed: Kessel 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT ASGD00884 PubMed: Kessel 2021 patient - - Denmark - - - - - 1 Johan den Dunnen
+?/? 10 c.1021C>T r.(?) p.(Arg341*) Parent #1 - likely pathogenic g.1670256G>A g.1666484G>A - - PXDN_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - ? - - - - - - - - - - - 1 Anne Slavotinek
+?/? 10 c.1021C>T r.(?) p.(Arg341*) Maternal (confirmed) - likely pathogenic g.1670256G>A g.1666484G>A - - PXDN_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Anne Slavotinek
+?/? 10 c.1021C>T r.(?) p.(Arg341*) Maternal (confirmed) - likely pathogenic g.1670256G>A g.1666484G>A - - PXDN_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - ? - - - F no - - - - - - 1 Anne Slavotinek
-/. - c.1107C>T r.(?) p.(Pro369=) Unknown - benign g.1670170G>A g.1666398G>A PXDN(NM_012293.3):c.1107C>T (p.P369=) - PXDN_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1121C>T r.(?) p.(Ser374Phe) Unknown - likely benign g.1670156G>A g.1666384G>A PXDN(NM_012293.2):c.1121C>T (p.S374F) - PXDN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1127C>T r.(?) p.(Thr376Met) Unknown - VUS g.1670150G>A - PXDN(NM_012293.2):c.1127C>T (p.T376M) - PXDN_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1175C>T r.(?) p.(Thr392Met) Unknown - VUS g.1670102G>A g.1666330G>A PXDN(NM_012293.3):c.1175C>T (p.T392M, p.(Thr392Met)) - PXDN_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1175C>T r.(?) p.(Thr392Met) Unknown - VUS g.1670102G>A - PXDN(NM_012293.3):c.1175C>T (p.T392M, p.(Thr392Met)) - PXDN_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1176G>T r.(?) p.(Thr392=) Unknown - likely benign g.1670101C>A g.1666329C>A PXDN(NM_012293.2):c.1176G>T (p.T392=), PXDN(NM_012293.3):c.1176G>T (p.T392=) - PXDN_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1176G>T r.(?) p.(Thr392=) Unknown - likely benign g.1670101C>A - PXDN(NM_012293.2):c.1176G>T (p.T392=), PXDN(NM_012293.3):c.1176G>T (p.T392=) - PXDN_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1185C>T r.(?) p.(Gly395=) Unknown - VUS g.1670092G>A g.1666320G>A PXDN(NM_012293.2):c.1185C>T (p.G395=) - PXDN_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 10 c.1192del r.(?) p.(Tyr398Thrfs*40) Maternal (confirmed) - likely pathogenic g.1670087del g.1666315del - - PXDN_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CTRCT - - - - - - - - - - - 1 Anne Slavotinek
-/. - c.1242G>A r.(?) p.(Ala414=) Unknown - benign g.1670035C>T g.1666263C>T PXDN(NM_012293.3):c.1242G>A (p.A414=) - PXDN_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1495C>G r.(?) p.(Gln499Glu) Unknown - likely benign g.1667449G>C g.1663677G>C PXDN(NM_012293.3):c.1495C>G (p.Q499E) - PXDN_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1501G>A r.(?) p.(Glu501Lys) Unknown - likely benign g.1667443C>T g.1663671C>T PXDN(NM_012293.1):c.1501G>A (p.(Glu501Lys)) - PXDN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1525G>A r.(?) p.(Gly509Ser) Unknown - VUS g.1667419C>T g.1663647C>T PXDN(NM_012293.1):c.1525G>A (p.(Gly509Ser)) - PXDN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1569_1570insT r.(?) p.(Thr524TyrfsTer53) Maternal (confirmed) - pathogenic (recessive) g.1665954_1665955insA g.1662182_1662183insA - - PXDN_000094 - PubMed: Gostain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? CMC48 PubMed: Gostain 2020 - F - Canada - - - - - 1 Johan den Dunnen
?/. - c.1603_1605del r.(?) p.(Thr535del) Unknown - VUS g.1665922_1665924del g.1662150_1662152del PXDN(NM_012293.3):c.1603_1605delACA (p.T535del) - PXDN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1650C>T r.(?) p.(Gly550=) Unknown - VUS g.1665874G>A - PXDN(NM_012293.3):c.1650C>T (p.G550=) - PXDN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1656C>T r.(?) p.(Pro552=) Unknown - benign g.1665868G>A g.1662096G>A PXDN(NM_012293.3):c.1656C>T (p.P552=) - PXDN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1744A>G r.(?) p.(Asn582Asp) Unknown - VUS g.1664746T>C g.1660974T>C PXDN(NM_012293.3):c.1744A>G (p.N582D) - PXDN_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1789C>T r.(?) p.(Arg597Trp) Unknown - VUS g.1664701G>A g.1660929G>A PXDN(NM_012293.3):c.1789C>T (p.R597W) - PXDN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1805C>T r.(?) p.(Ser602Leu) Unknown - benign g.1664685G>A g.1660913G>A PXDN(NM_012293.3):c.1805C>T (p.S602L) - PXDN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1827C>T r.(?) p.(Leu609=) Unknown - benign g.1664663G>A g.1660891G>A PXDN(NM_012293.3):c.1827C>T (p.L609=) - PXDN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1857T>C r.(?) p.(Asn619=) Unknown - likely benign g.1658261A>G - PXDN(NM_012293.2):c.1857T>C (p.N619=) - PXDN_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1884C>T r.(?) p.(Ile628=) Unknown - likely benign g.1658234G>A - PXDN(NM_012293.2):c.1884C>T (p.I628=) - PXDN_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1896T>C r.(?) p.(Ile632=) Unknown - likely benign g.1658222A>G - PXDN(NM_012293.2):c.1896T>C (p.I632=) - PXDN_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2025G>A r.(?) p.(Ala675=) Unknown - likely benign g.1657479C>T g.1653707C>T PXDN(NM_012293.2):c.2025G>A (p.A675=) - PXDN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2097C>T r.(?) p.(Asn699=) Unknown - likely benign g.1657407G>A - PXDN(NM_012293.2):c.2097C>T (p.N699=) - PXDN_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.2098G>T r.(?) p.(Gly700Ter) Both (homozygous) ACMG pathogenic (recessive) g.1657406C>A g.1653634C>A - - PXDN_000085 ACMG PVS1, PM2, PP3, PP4 PubMed: Kritioti 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat9 PubMed: Kritioti 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Cyprus Greece - - - - 1 Johan den Dunnen
-?/. - c.2139C>T r.(?) p.(Tyr713=) Unknown - likely benign g.1653413G>A g.1649641G>A PXDN(NM_012293.3):c.2139C>T (p.Y713=) - PXDN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2151C>T r.(?) p.(Ile717=) Unknown - benign g.1653401G>A g.1649629G>A PXDN(NM_012293.2):c.2151C>T (p.I717=), PXDN(NM_012293.3):c.2151C>T (p.I717=) - PXDN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2151C>T r.(?) p.(Ile717=) Unknown - likely benign g.1653401G>A - PXDN(NM_012293.2):c.2151C>T (p.I717=), PXDN(NM_012293.3):c.2151C>T (p.I717=) - PXDN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2162C>T r.(?) p.(Ser721Leu) Unknown - VUS g.1653390G>A g.1649618G>A PXDN(NM_012293.2):c.2162C>T (p.S721L) - PXDN_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2178C>T r.(?) p.(=) Unknown - likely benign g.1653374G>A - PXDN(NM_012293.3):c.2178C>T (p.H726=) - PXDN_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2229G>A r.(?) p.(=) Unknown - likely benign g.1653323C>T - PXDN(NM_012293.3):c.2229G>A (p.T743=) - PXDN_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2235C>T r.(?) p.(Asp745=) Unknown - likely benign g.1653317G>A - PXDN(NM_012293.3):c.2235C>T (p.D745=) - PXDN_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 17 c.2276C>T r.(?) p.(Ser759Leu) Unknown - VUS g.1653276G>A g.1649504G>A - - PXDN_000007 - - - - Germline - - - - - DNA SEQ-NG - - - - - - M no - - - - - - 1 Celia Zazo-Seco
?/. - c.2276C>T r.(?) p.(Ser759Leu) Paternal (confirmed) ACMG VUS g.1653276G>A g.1649504G>A - - PXDN_000007 ACMG PM2, PP3, PubMed: Thanikachalam 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - ASGD Fam8PatII1 PubMed: Thanikachalam 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States white;non-Hispanic - - - - 1 Johan den Dunnen
-?/. - c.2364C>T r.(?) p.(Asn788=) Unknown - likely benign g.1653188G>A - PXDN(NM_012293.2):c.2364C>T (p.N788=) - PXDN_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 17 c.2375_2397del r.(?) p.(Leu792Hisfs*67) Paternal (confirmed) - likely pathogenic g.1653157_1653179del g.1649385_1649407del 2375_2397del23 - PXDN_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Anne Slavotinek
+?/? 17 c.2375_2397del r.(?) p.(Leu792Hisfs*67) Paternal (confirmed) - likely pathogenic g.1653157_1653179del g.1649385_1649407del - - PXDN_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - ? - - - F no - - - - - - 1 Anne Slavotinek
+/. - c.2375_2397del r.(?) p.(Leu792Hisfs*67) Unknown - pathogenic g.1653157_1653179del - PXDN(NM_012293.3):c.2375_2397delTTCCCATGCCGCGCCTGGTGTCC (p.L792Hfs*67) - PXDN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2410G>C r.(?) p.(Gly804Arg) Unknown - VUS g.1653142C>G g.1649370C>G PXDN(NM_012293.2):c.2410G>C (p.G804R) - PXDN_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2422G>A r.(?) p.(Val808Ile) Unknown - likely benign g.1653130C>T - PXDN(NM_012293.3):c.2422G>A (p.V808I) - PXDN_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2547C>T r.(?) p.(Asn849=) Unknown - likely benign g.1653005G>A g.1649233G>A PXDN(NM_012293.2):c.2547C>T (p.N849=) - PXDN_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2548G>A r.(?) p.(Val850Met) Unknown - VUS g.1653004C>T - PXDN(NM_012293.3):c.2548G>A (p.(Val850Met)) - PXDN_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2568del r.(?) p.(Cys857AlafsTer5) Both (homozygous) - pathogenic (recessive) g.1652990del g.1649218del 2568delC - PXDN_000097 - PubMed: Basharat 2023, Journal: Basharat 2023 - - Germline yes - - - - DNA SEQ-NG Blood WGS ? MA193PatIV2 PubMed: Basharat 2023, Journal: Basharat 2023 4-generation family, affected brother/sister (F, M), unaffected heterozygous parents/relatives F yes Pakistan Asia-S - - - - 2 Rabia Basharat
+/. - c.2568dup r.(?) p.(Cys857LeufsTer10) Unknown - pathogenic g.1652990dup g.1649218dup PXDN(NM_012293.3):c.2568dupC (p.C857Lfs*10) - PXDN_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2620C>T r.(?) p.(Arg874Cys) Unknown - VUS g.1652932G>A - PXDN(NM_012293.3):c.2620C>T (p.(Arg874Cys)) - PXDN_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2640C>G r.(?) p.(Arg880=) Unknown - benign g.1652912G>C g.1649140G>C PXDN(NM_012293.2):c.2640C>G (p.R880=) - PXDN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2741A>G r.(?) p.(Asn914Ser) Unknown - likely benign g.1652811T>C g.1649039T>C PXDN(NM_012293.2):c.2741A>G (p.N914S), PXDN(NM_012293.3):c.2741A>G (p.N914S) - PXDN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2741A>G r.(?) p.(Asn914Ser) Unknown - VUS g.1652811T>C - PXDN(NM_012293.2):c.2741A>G (p.N914S), PXDN(NM_012293.3):c.2741A>G (p.N914S) - PXDN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2748C>T r.(?) p.(Tyr916=) Unknown - likely benign g.1652804G>A g.1649032G>A PXDN(NM_012293.2):c.2748C>T (p.Y916=) - PXDN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2770C>T r.(?) p.(Arg924Cys) Unknown - VUS g.1652782G>A - PXDN(NM_012293.3):c.2770C>T (p.(Arg924Cys)) - PXDN_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2840C>T r.(?) p.(Pro947Leu) Unknown - VUS g.1652712G>A - PXDN(NM_012293.2):c.2840C>T (p.P947L) - PXDN_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2919C>A r.(?) p.(Ala973=) Unknown - likely benign g.1652633G>T - PXDN(NM_012293.2):c.2919C>A (p.A973=) - PXDN_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3064G>A r.(?) p.(Val1022Met) Unknown - likely benign g.1652488C>T g.1648716C>T PXDN(NM_012293.2):c.3064G>A (p.V1022M) - PXDN_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3138G>A r.(?) p.(Thr1046=) Unknown - likely benign g.1652414C>T - PXDN(NM_012293.2):c.3138G>A (p.T1046=) - PXDN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3165C>T r.(?) p.(Pro1055=) Unknown - benign g.1652387G>A g.1648615G>A PXDN(NM_012293.2):c.3165C>T (p.P1055=), PXDN(NM_012293.3):c.3165C>T (p.P1055=) - PXDN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3165C>T r.(?) p.(Pro1055=) Unknown - benign g.1652387G>A g.1648615G>A PXDN(NM_012293.2):c.3165C>T (p.P1055=), PXDN(NM_012293.3):c.3165C>T (p.P1055=) - PXDN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3190G>A r.(?) p.(Ala1064Thr) Unknown - likely benign g.1652362C>T g.1648590C>T PXDN(NM_012293.2):c.3190G>A (p.A1064T), PXDN(NM_012293.3):c.3190G>A (p.A1064T) - PXDN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3190G>A r.(?) p.(Ala1064Thr) Unknown - VUS g.1652362C>T g.1648590C>T PXDN(NM_012293.2):c.3190G>A (p.A1064T), PXDN(NM_012293.3):c.3190G>A (p.A1064T) - PXDN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3190G>A r.(?) p.(Ala1064Thr) Parent #1 - benign g.1652362C>T g.1648590C>T - - PXDN_000038 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs202132697 Germline - 11/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 11 Mohammed Faruq
-?/. - c.3190G>A r.(?) p.(Ala1064Thr) Unknown - likely benign g.1652362C>T g.1648590C>T - - PXDN_000038 - PubMed: Ma 2016 - rs202132697 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam26PatII4 PubMed: Ma 2016 3-generation family, 6 affected (6M) M - Australia - - - - - 6 Johan den Dunnen
+/. - c.3206C>A r.(?) p.(Ala1069Asp) Paternal (confirmed) - pathogenic (recessive) g.1652346G>T g.1648574G>T - - PXDN_000093 - PubMed: Gostain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? CMC48 PubMed: Gostain 2020 - F - Canada - - - - - 1 Johan den Dunnen
?/. - c.3244T>C r.(?) p.(Tyr1082His) Unknown - VUS g.1652308A>G - PXDN(NM_012293.2):c.3244T>C (p.Y1082H) - PXDN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3291C>A r.(?) p.(Pro1097=) Unknown - benign g.1652261G>T g.1648489G>T PXDN(NM_012293.3):c.3291C>A (p.P1097=) - PXDN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3342C>G r.(?) p.(Ile1114Met) Unknown - VUS g.1652210G>C - PXDN(NM_012293.3):c.3342C>G (p.(Ile1114Met)) - PXDN_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3355_3356del r.(?) p.(Arg1119GlyfsTer72) Unknown - likely pathogenic g.1652196_1652197del g.1648424_1648425del PXDN(NM_012293.3):c.3355_3356delAG (p.R1119Gfs*72) - PXDN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3420G>A r.(?) p.(Thr1140=) Unknown - benign g.1652132C>T g.1648360C>T PXDN(NM_012293.3):c.3420G>A (p.T1140=) - PXDN_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3464C>A r.(?) p.(Ala1155Glu) Unknown - VUS g.1652088G>T - PXDN(NM_012293.3):c.3464C>A (p.(Ala1155Glu)) - PXDN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3464C>A r.(?) p.(Ala1155Glu) Unknown - VUS g.1652088G>T - PXDN(NM_012293.3):c.3464C>A (p.(Ala1155Glu)) - PXDN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3483G>T r.(?) p.(Arg1161=) Unknown - likely benign g.1652069C>A g.1648297C>A PXDN(NM_012293.3):c.3483G>T (p.R1161=) - PXDN_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.