Full data view for gene XIRP1

Information The variants shown are described using the NM_194293.2 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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.93G>T r.(?) p.(Glu31Asp) Unknown - VUS g.39230844C>A g.39189353C>A XIRP1(NM_001198621.1):c.93G>T (p.(Glu31Asp)) - XIRP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.261C>T r.(?) p.(Thr87=) Unknown - likely benign g.39230676G>A g.39189185G>A XIRP1(NM_194293.4):c.261C>T (p.T87=) - XIRP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.270C>T r.(?) p.(Asp90=) Unknown - likely benign g.39230667G>A g.39189176G>A XIRP1(NM_194293.4):c.270C>T (p.D90=) - XIRP1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.327C>T r.(?) p.(His109=) Unknown - benign g.39230610G>A g.39189119G>A XIRP1(NM_194293.4):c.327C>T (p.H109=) - XIRP1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.330G>C r.(?) p.(Glu110Asp) Unknown - likely benign g.39230607C>G g.39189116C>G XIRP1(NM_194293.4):c.330G>C (p.E110D) - XIRP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.352G>A r.(?) p.(Val118Met) Unknown - likely benign g.39230585C>T g.39189094C>T XIRP1(NM_194293.4):c.352G>A (p.V118M) - XIRP1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.498C>T r.(?) p.(Asp166=) Unknown - benign g.39230439G>A g.39188948G>A XIRP1(NM_194293.4):c.498C>T (p.D166=) - XIRP1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.556G>A r.(?) p.(Gly186Arg) Unknown - VUS g.39230381C>T g.39188890C>T XIRP1(NM_194293.4):c.556G>A (p.G186R) - XIRP1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1037A>G r.(?) p.(Gln346Arg) Unknown - benign g.39229900T>C g.39188409T>C XIRP1(NM_194293.4):c.1037A>G (p.Q346R) - XIRP1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1055G>A r.(?) p.(Arg352Gln) Unknown - likely benign g.39229882C>T g.39188391C>T XIRP1(NM_194293.4):c.1055G>A (p.R352Q) - XIRP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1156G>A r.(?) p.(Glu386Lys) Unknown - likely benign g.39229781C>T g.39188290C>T XIRP1(NM_194293.4):c.1156G>A (p.E386K) - XIRP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1347C>T r.(?) p.(Pro449=) Unknown - benign g.39229590G>A g.39188099G>A XIRP1(NM_194293.4):c.1347C>T (p.P449=) - XIRP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1475G>A r.(?) p.(Arg492His) Unknown - likely benign g.39229462C>T g.39187971C>T XIRP1(NM_194293.4):c.1475G>A (p.R492H) - XIRP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1708C>T r.(?) p.(Arg570Ter) Unknown - likely pathogenic g.39229229G>A g.39187738G>A XIRP1(NM_194293.4):c.1708C>T (p.R570*) - XIRP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1741C>A r.(?) p.(Pro581Thr) Unknown - likely benign g.39229196G>T g.39187705G>T XIRP1(NM_194293.4):c.1741C>A (p.P581T) - XIRP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1819G>T r.(?) p.(Ala607Ser) Unknown - likely benign g.39229118C>A g.39187627C>A XIRP1(NM_194293.4):c.1819G>T (p.A607S) - XIRP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1893G>A r.(?) p.(Lys631=) Unknown - benign g.39229044C>T g.39187553C>T XIRP1(NM_194293.4):c.1893G>A (p.K631=) - XIRP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1926G>A r.(?) p.(Arg642=) Unknown - benign g.39229011C>T g.39187520C>T XIRP1(NM_194293.4):c.1926G>A (p.R642=) - XIRP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1963G>T r.(?) p.(Glu655Ter) Unknown - likely pathogenic g.39228974C>A g.39187483C>A XIRP1(NM_194293.4):c.1963G>T (p.E655*) - XIRP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1996G>A r.(?) p.(Glu666Lys) Unknown - likely benign g.39228941C>T g.39187450C>T XIRP1(NM_194293.4):c.1996G>A (p.E666K) - XIRP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2122A>T r.(?) p.(Lys708Ter) Unknown - likely pathogenic g.39228815T>A g.39187324T>A XIRP1(NM_001198621.1):c.2122A>T (p.(Lys708Ter)), XIRP1(NM_194293.4):c.2122A>T (p.K708*) - XIRP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2122A>T r.(?) p.(Lys708Ter) Unknown - VUS g.39228815T>A g.39187324T>A XIRP1(NM_001198621.1):c.2122A>T (p.(Lys708Ter)), XIRP1(NM_194293.4):c.2122A>T (p.K708*) - XIRP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2165C>T r.(?) p.(Ala722Val) Unknown - benign g.39228772G>A g.39187281G>A XIRP1(NM_194293.4):c.2165C>T (p.A722V) - XIRP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2199G>C r.(?) p.(Glu733Asp) Unknown - VUS g.39228738C>G g.39187247C>G XIRP1(NM_194293.4):c.2199G>C (p.E733D) - XIRP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2261A>C r.(?) p.(Gln754Pro) Unknown - likely benign g.39228676T>G g.39187185T>G XIRP1(NM_194293.4):c.2261A>C (p.Q754P) - XIRP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2271C>G r.(?) p.(Ser757Arg) Unknown - likely benign g.39228666G>C - XIRP1(NM_194293.2):c.2271C>G (p.(Ser757Arg)) - XIRP1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2380G>A r.(?) p.(Ala794Thr) Unknown - likely benign g.39228557C>T - XIRP1(NM_194293.2):c.2380G>A (p.(Ala794Thr)) - XIRP1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2856G>A r.(?) p.(Pro952=) Unknown - likely benign g.39228081C>T g.39186590C>T XIRP1(NM_194293.4):c.2856G>A (p.P952=) - XIRP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2894A>C r.(?) p.(His965Pro) Unknown - benign g.39228043T>G g.39186552T>G XIRP1(NM_194293.4):c.2894A>C (p.H965P) - XIRP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3273C>T r.(?) p.(Asp1091=) Unknown - benign g.39227664G>A g.39186173G>A XIRP1(NM_194293.4):c.3273C>T (p.D1091=) - XIRP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3344C>T r.(?) p.(Ala1115Val) Unknown - likely benign g.39227593G>A g.39186102G>A XIRP1(NM_194293.4):c.3344C>T (p.A1115V) - XIRP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3442G>A r.(?) p.(Val1148Met) Unknown - likely benign g.39227495C>T g.39186004C>T XIRP1(NM_194293.4):c.3442G>A (p.V1148M) - XIRP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3763C>T r.(?) p.(Pro1255Ser) Unknown - benign g.39227174G>A g.39185683G>A XIRP1(NM_194293.4):c.3763C>T (p.P1255S) - XIRP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3885C>T r.(?) p.(His1295=) Unknown - likely benign g.39227052G>A g.39185561G>A XIRP1(NM_194293.4):c.3885C>T (p.H1295=) - XIRP1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4495G>A r.(?) p.(Glu1499Lys) Both (homozygous) - likely pathogenic (recessive) g.39226442C>T g.39184951C>T - - XIRP1_000035 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? 25558065-Fam13DG1935 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - 4 Johan den Dunnen
+/. - c.4495G>A r.(?) p.(Glu1499Lys) Both (homozygous) - pathogenic g.39226442C>T g.39184951C>T - - XIRP1_000035 - PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 13DG1935 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
?/. - c.4573G>A r.(?) p.(Ala1525Thr) Unknown - VUS g.39226364C>T g.39184873C>T - - XIRP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4601C>T r.(?) p.(Thr1534Met) Unknown - likely benign g.39226336G>A g.39184845G>A XIRP1(NM_194293.4):c.4601C>T (p.(Thr1534Met), p.T1534M) - XIRP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4601C>T r.(?) p.(Thr1534Met) Unknown - VUS g.39226336G>A - XIRP1(NM_194293.4):c.4601C>T (p.(Thr1534Met), p.T1534M) - XIRP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4779C>A r.(?) p.(Ser1593Arg) Unknown - likely benign g.39226158G>T g.39184667G>T XIRP1(NM_194293.4):c.4779C>A (p.S1593R) - XIRP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4810G>A r.(?) p.(Gly1604Arg) Unknown - benign g.39226127C>T g.39184636C>T XIRP1(NM_194293.4):c.4810G>A (p.G1604R) - XIRP1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4823C>T r.(?) p.(Ala1608Val) Unknown - benign g.39226114G>A g.39184623G>A XIRP1(NM_194293.4):c.4823C>T (p.A1608V) - XIRP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5352G>A r.(?) p.(Met1784Ile) Unknown - benign g.39225585C>T g.39184094C>T XIRP1(NM_194293.4):c.5352G>A (p.M1784I) - XIRP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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