Full data view for gene INO80

Information The variants shown are described using the NM_017553.1 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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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.28G>C r.(?) p.(Asp10His) Unknown - VUS g.41388481C>G g.41096283C>G INO80(NM_017553.3):c.28G>C (p.D10H) - INO80_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.57C>T r.(?) p.(Pro19=) Unknown - likely benign g.41388452G>A g.41096254G>A INO80(NM_017553.3):c.57C>T (p.P19=) - INO80_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.57C>T r.(?) p.(Pro19=) Unknown - likely benign g.41388452G>A g.41096254G>A INO80(NM_017553.3):c.57C>T (p.P19=) - INO80_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.97C>T r.(?) p.(His33Tyr) Unknown - likely benign g.41388412G>A - INO80(NM_017553.3):c.97C>T (p.H33Y) - INO80_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.117A>G r.(?) p.(Ser39=) Unknown - likely benign g.41388392T>C g.41096194T>C INO80(NM_017553.3):c.117A>G (p.S39=) - INO80_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.121A>G r.(?) p.(Ile41Val) Unknown - VUS g.41388388T>C - INO80(NM_017553.3):c.121A>G (p.I41V) - INO80_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.144-5del r.spl? p.? Unknown - likely benign g.41388133del - INO80(NM_017553.3):c.144-5delT - INO80_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159T>C r.(?) p.(Asp53=) Unknown - likely benign g.41388111A>G g.41095913A>G INO80(NM_017553.3):c.159T>C (p.D53=) - INO80_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159T>C r.(?) p.(Asp53=) Unknown - likely benign g.41388111A>G - INO80(NM_017553.3):c.159T>C (p.D53=) - INO80_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.408C>T r.(?) p.(Ser136=) Unknown - benign g.41384354G>A g.41092156G>A INO80(NM_017553.3):c.408C>T (p.S136=) - INO80_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.432C>T r.(?) p.(Asp144=) Unknown - likely benign g.41384330G>A - INO80(NM_017553.3):c.432C>T (p.D144=) - INO80_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.452A>G r.(?) p.(Asn151Ser) Unknown - likely benign g.41384310T>C - INO80(NM_017553.3):c.452A>G (p.N151S) - INO80_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.452A>G r.(?) p.(Asn151Ser) Unknown - likely benign g.41384310T>C - INO80(NM_017553.3):c.452A>G (p.N151S) - INO80_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.928-8G>A r.(=) p.(=) Unknown - likely benign g.41372110C>T g.41079912C>T INO80(NM_017553.3):c.928-8G>A - INO80_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.934C>T r.(?) p.(His312Tyr) Unknown - VUS g.41372096G>A - INO80(NM_017553.3):c.934C>T (p.H312Y) - INO80_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.943A>G r.(?) p.(Met315Val) Unknown - VUS g.41372087T>C - INO80(NM_017553.3):c.943A>G (p.M315V) - INO80_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1131+17A>G r.(=) p.(=) Unknown - likely benign g.41371882T>C - INO80(NM_017553.3):c.1131+17A>G - INO80_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1281C>T r.(?) p.(Ile427=) Unknown - likely benign g.41366614G>A g.41074416G>A INO80(NM_017553.3):c.1281C>T (p.I427=) - INO80_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1396-10dup r.(=) p.(=) Unknown - benign g.41364279dup g.41072081dup INO80(NM_017553.3):c.1396-10dupT - INO80_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1444C>T r.(?) p.(Arg482Trp) Unknown - VUS g.41364208G>A g.41072010G>A INO80(NM_017553.3):c.1444C>T (p.R482W) - INO80_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1444C>T r.(?) p.(Arg482Trp) Unknown - VUS g.41364208G>A g.41072010G>A INO80(NM_017553.3):c.1444C>T (p.R482W) - INO80_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1501T>C r.(?) p.(Ser501Pro) Parent #1 - likely pathogenic (recessive) g.41364151A>G g.41071953A>G - - INO80_000005 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? 25558065-Fam10DG1705 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 6 affected (4F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - 6 Johan den Dunnen
+?/. - c.1501T>C r.(?) p.(Ser501Pro) Both (homozygous) ACMG likely pathogenic g.41364151A>G g.41071953A>G - - INO80_000005 ACMG PS4, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 10DG1705 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.1501T>C r.(?) p.(Ser501Pro) Both (homozygous) ACMG likely pathogenic g.41364151A>G g.41071953A>G - - INO80_000005 ACMG PS4, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 13DG0167 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - 1 Johan den Dunnen
-?/. - c.1833C>T r.(?) p.(Phe611=) Unknown - likely benign g.41352074G>A g.41059876G>A INO80(NM_017553.3):c.1833C>T (p.F611=) - INO80_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1833C>T r.(?) p.(Phe611=) Unknown - likely benign g.41352074G>A g.41059876G>A INO80(NM_017553.3):c.1833C>T (p.F611=) - INO80_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2189-13C>T r.(=) p.(=) Unknown - likely benign g.41346225G>A - INO80(NM_017553.3):c.2189-13C>T - INO80_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2472G>T r.(?) p.(Arg824=) Unknown - likely benign g.41341589C>A g.41049391C>A INO80(NM_017553.3):c.2472G>T (p.R824=) - INO80_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2490A>G r.(?) p.(Pro830=) Unknown - likely benign g.41341571T>C g.41049373T>C INO80(NM_017553.3):c.2490A>G (p.P830=) - INO80_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2516A>G r.(?) p.(His839Arg) Unknown - likely benign g.41341545T>C - INO80(NM_017553.1):c.2516A>G (p.(His839Arg)) - INO80_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2573A>G r.(?) p.(Asp858Gly) Unknown - likely benign g.41341488T>C g.41049290T>C INO80(NM_017553.3):c.2573A>G (p.D858G) - INO80_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2644A>G r.(?) p.(Ile882Val) Unknown - likely benign g.41339697T>C g.41047499T>C INO80(NM_017553.1):c.2644A>G (p.(Ile882Val)) - INO80_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2784G>A r.(?) p.(Gln928=) Unknown - likely benign g.41337225C>T - INO80(NM_017553.3):c.2784G>A (p.Q928=) - INO80_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2812G>A r.(?) p.(Glu938Lys) Unknown - likely benign g.41337197C>T g.41044999C>T INO80(NM_017553.3):c.2812G>A (p.E938K) - INO80_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2812G>A r.(?) p.(Glu938Lys) Unknown - likely benign g.41337197C>T - INO80(NM_017553.3):c.2812G>A (p.E938K) - INO80_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2829C>T r.(?) p.(Tyr943=) Unknown - likely benign g.41337180G>A g.41044982G>A INO80(NM_017553.3):c.2829C>T (p.Y943=) - INO80_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2928C>T r.(?) p.(His976=) Unknown - likely benign g.41319914G>A - INO80(NM_017553.3):c.2928C>T (p.H976=) - INO80_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2998C>T r.(?) p.(Arg1000Cys) Unknown - likely benign g.41319844G>A g.41027646G>A INO80(NM_017553.3):c.2998C>T (p.R1000C) - INO80_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2998C>T r.(?) p.(Arg1000Cys) Unknown - likely benign g.41319844G>A g.41027646G>A INO80(NM_017553.3):c.2998C>T (p.R1000C) - INO80_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3146G>A r.(?) p.(Cys1049Tyr) Unknown - VUS g.41313226C>T - - - INO80_000027 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.3194G>A r.(?) p.(Arg1065Gln) Unknown - likely benign g.41313178C>T - INO80(NM_017553.3):c.3194G>A (p.R1065Q) - INO80_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3323T>G r.(?) p.(Val1108Gly) Unknown - likely benign g.41308365A>C - - - INO80_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3570+14G>A r.(=) p.(=) Unknown - likely benign g.41289713C>T - INO80(NM_017553.3):c.3570+14G>A - INO80_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3737G>A r.(?) p.(Arg1246Gln) Parent #2 - likely pathogenic (recessive) g.41279384C>T g.40987186C>T - - INO80_000006 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? 25558065-Fam10DG1705 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 6 affected (4F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - 6 Johan den Dunnen
?/. - c.3842G>A r.(?) p.(Arg1281Gln) Unknown - VUS g.41277615C>T - INO80(NM_017553.3):c.3842G>A (p.R1281Q) - INO80_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4162G>C r.(?) p.(Ala1388Pro) Unknown - VUS g.41276035C>G g.40983837C>G INO80(NM_017553.3):c.4162G>C (p.A1388P) - INO80_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4218C>T r.(?) p.(Ser1406=) Unknown - likely benign g.41275979G>A g.40983781G>A INO80(NM_017553.3):c.4218C>T (p.S1406=) - INO80_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4271G>A r.(?) p.(Arg1424His) Unknown - VUS g.41275242C>T g.40983044C>T INO80(NM_017553.3):c.4271G>A (p.R1424H) - INO80_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4271G>C r.(?) p.(Arg1424Pro) Unknown - VUS g.41275242C>G g.40983044C>G INO80(NM_017553.3):c.4271G>C (p.R1424P) - INO80_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4349G>A r.(?) p.(Arg1450Gln) Unknown - VUS g.41275164C>T - INO80(NM_017553.3):c.4349G>A (p.R1450Q) - INO80_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4367G>T r.(?) p.(Ser1456Ile) Unknown - VUS g.41275146C>A - INO80(NM_017553.3):c.4367G>T (p.S1456I) - INO80_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4453+9G>T r.(=) p.(=) Unknown - likely benign g.41275051C>A - INO80(NM_017553.3):c.4453+9G>T - INO80_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4627dup r.(?) p.(Val1543Glyfs*32) Unknown - VUS g.41272466dup - INO80(NM_017553.3):c.4627dupG (p.V1543Gfs*32) - INO80_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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