Full data view for gene TCIRG1

Information The variants shown are described using the NM_006019.3 transcript reference sequence.

122 entries on 2 pages. Showing entries 1 - 100.
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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.-2829C>T r.(?) p.(=) Unknown - VUS g.67803762C>T g.68036295C>T NDUFS8(NM_002496.4):c.415C>T (p.(Arg139Trp), p.R139W) - NDUFS8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2829C>T r.(?) p.(=) Unknown - VUS g.67803762C>T - NDUFS8(NM_002496.4):c.415C>T (p.(Arg139Trp), p.R139W) - NDUFS8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2789A>T r.(?) p.(=) Unknown - likely benign g.67803802A>T g.68036335A>T NDUFS8(NM_002496.3):c.455A>T (p.(Tyr152Phe)) - NDUFS8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2779C>G r.(?) p.(=) Unknown - likely benign g.67803812C>G g.68036345C>G NDUFS8(NM_002496.3):c.465C>G (p.(Phe155Leu)) - NDUFS8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2763C>G r.(?) p.(=) Unknown - VUS g.67803828C>G g.68036361C>G NDUFS8(NM_002496.4):c.481C>G (p.P161A) - NDUFS8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2735A>T r.(?) p.(=) Unknown - likely benign g.67803856A>T g.68036389A>T NDUFS8(NM_002496.3):c.501+8A>T (p.(=)) - NDUFS8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2566G>A r.(?) p.(=) Unknown - VUS g.67804025G>A - NDUFS8(NM_002496.4):c.598G>A (p.(Ala200Thr)) - NDUFS8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2563G>A r.(?) p.(=) Unknown - VUS g.67804028G>A - NDUFS8(NM_002496.4):c.601G>A (p.(Ala201Thr)) - NDUFS8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2521G>A r.(?) p.(=) Unknown - likely benign g.67804070G>A g.68036603G>A NDUFS8(NM_002496.4):c.*10G>A - NDUFS8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8C>T r.(?) p.(Ser3Phe) Unknown - VUS g.67808746C>T - TCIRG1(NM_006019.4):c.8C>T (p.S3F) - NDUFS8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.16C>T r.(?) p.(Arg6Trp) Unknown - VUS g.67808754C>T g.68041287C>T TCIRG1(NM_006019.2):c.16C>T (p.R6W) - NDUFS8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.21C>T r.(?) p.(Ser7=) Unknown - likely benign g.67808759C>T - TCIRG1(NM_006019.2):c.21C>T (p.S7=) - NDUFS8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.82C>T r.(?) p.(Arg28Trp) Unknown - VUS g.67808820C>T - - - NDUFS8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.90C>T r.(?) p.(Gly30=) Unknown - VUS g.67808828C>T g.68041361C>T TCIRG1(NM_006019.2):c.90C>T (p.G30=) - TCIRG1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.154G>C r.(?) p.(Val52Leu) Unknown - likely benign g.67809256G>C - TCIRG1(NM_006019.2):c.154G>C (p.V52L) - TCIRG1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166C>T r.(?) p.(Arg56Trp) Unknown - likely benign g.67809268C>T g.68041801C>T TCIRG1(NM_006019.2):c.166C>T (p.R56W), TCIRG1(NM_006019.3):c.166C>T (p.(Arg56Trp)), TCIRG1(NM_006019.4):c.166C>T (p.R56W) - TCIRG1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166C>T r.(?) p.(Arg56Trp) Parent #1 - likely benign g.67809268C>T g.68041801C>T - - TCIRG1_000015 81 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs36027301 Germline - 81/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 81 Mohammed Faruq
-?/. - c.166C>T r.(?) p.(Arg56Trp) Both (homozygous) - likely benign g.67809268C>T g.68041801C>T - - TCIRG1_000015 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs36027301 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.166C>T r.(?) p.(Arg56Trp) Unknown - benign g.67809268C>T - TCIRG1(NM_006019.2):c.166C>T (p.R56W), TCIRG1(NM_006019.3):c.166C>T (p.(Arg56Trp)), TCIRG1(NM_006019.4):c.166C>T (p.R56W) - TCIRG1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.166C>T r.(?) p.(Arg56Trp) Unknown - benign g.67809268C>T - TCIRG1(NM_006019.2):c.166C>T (p.R56W), TCIRG1(NM_006019.3):c.166C>T (p.(Arg56Trp)), TCIRG1(NM_006019.4):c.166C>T (p.R56W) - TCIRG1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.214G>A r.(?) p.(Val72Met) Unknown - VUS g.67810127G>A - TCIRG1(NM_006019.3):c.214G>A (p.(Val72Met)) - TCIRG1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.232G>T r.(?) p.(Val78Phe) Unknown - likely benign g.67810145G>T - TCIRG1(NM_006019.3):c.232G>T (p.(Val78Phe)) - TCIRG1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.247A>G r.(?) p.(Lys83Glu) Unknown - likely benign g.67810160A>G - TCIRG1(NM_006019.2):c.247A>G (p.K83E), TCIRG1(NM_006019.3):c.247A>G (p.(Lys83Glu)) - TCIRG1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.247A>G r.(?) p.(Lys83Glu) Unknown - likely benign g.67810160A>G - TCIRG1(NM_006019.2):c.247A>G (p.K83E), TCIRG1(NM_006019.3):c.247A>G (p.(Lys83Glu)) - TCIRG1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.303G>A r.(?) p.(Thr101=) Unknown - likely benign g.67810216G>A - TCIRG1(NM_006019.2):c.303G>A (p.T101=) - TCIRG1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.385G>A r.(?) p.(Ala129Thr) Unknown - likely benign g.67810298G>A - TCIRG1(NM_006019.3):c.385G>A (p.(Ala129Thr)) - TCIRG1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.412C>T r.(?) p.(Pro138Ser) Unknown - likely benign g.67810325C>T - TCIRG1(NM_006019.2):c.412C>T (p.P138S) - TCIRG1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.479G>A r.(?) p.(Gly160Glu) Unknown - likely benign g.67810474G>A g.68043007G>A TCIRG1(NM_006019.3):c.479G>A (p.(Gly160Glu)), TCIRG1(NM_006019.4):c.479G>A (p.G160E) - TCIRG1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.479G>A r.(?) p.(Gly160Glu) Unknown - benign g.67810474G>A - TCIRG1(NM_006019.3):c.479G>A (p.(Gly160Glu)), TCIRG1(NM_006019.4):c.479G>A (p.G160E) - TCIRG1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.482C>T r.(?) p.(Pro161Leu) Unknown - likely benign g.67810477C>T g.68043010C>T TCIRG1(NM_006019.2):c.482C>T (p.P161L), TCIRG1(NM_006019.3):c.482C>T (p.(Pro161Leu)) - TCIRG1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.482C>T r.(?) p.(Pro161Leu) Unknown - likely benign g.67810477C>T g.68043010C>T TCIRG1(NM_006019.2):c.482C>T (p.P161L), TCIRG1(NM_006019.3):c.482C>T (p.(Pro161Leu)) - TCIRG1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.515G>A r.(?) p.(Gly172Asp) Both (homozygous) - VUS g.67810849G>A - - - TCIRG1_000031 - PubMed: Liu 2021 - - Germline - - - - - DNA SEQ-NG blood Whole exome sequencing OPTB FamOP1 PubMed: Liu 2021 2 generation family, 1 affected, unaffected heterozygous carrier parents M yes (Pakistan) - - - yes - 1 Tahir Khan
?/. - c.566C>A r.(?) p.(Ala189Asp) Unknown - VUS g.67810900C>A g.68043433C>A TCIRG1(NM_006019.2):c.566C>A (p.A189D) - TCIRG1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.572G>A r.(?) p.(Arg191His) Unknown - VUS g.67810906G>A - TCIRG1(NM_006019.3):c.572G>A (p.(Arg191His)) - TCIRG1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.574G>A r.(?) p.(Gly192Ser) Unknown - VUS g.67810908G>A - TCIRG1(NM_006019.3):c.574G>A (p.(Gly192Ser)) - TCIRG1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.624C>G r.(?) p.(Pro208=) Unknown - VUS g.67810958C>G - TCIRG1(NM_006019.2):c.624C>G (p.P208=) - TCIRG1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.625G>A r.(?) p.(Val209Met) Unknown - VUS g.67810959G>A - TCIRG1(NM_006019.3):c.625G>A (p.(Val209Met)) - TCIRG1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.630+14G>A r.(=) p.(=) Unknown - benign g.67810978G>A g.68043511G>A TCIRG1(NM_006019.2):c.630+14G>A - TCIRG1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.734C>T r.(?) p.(Pro245Leu) Unknown - VUS g.67811301C>T - TCIRG1(NM_006019.4):c.734C>T (p.(Pro245Leu)) - TCIRG1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.807+26_807+62del r.(=) p.(=) Unknown - likely benign g.67811400_67811436del g.68043933_68043969del TCIRG1(NM_006019.2):c.807+26_807+62del - TCIRG1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.813C>T r.(?) p.(Leu271=) Unknown - likely benign g.67811604C>T - TCIRG1(NM_006019.2):c.813C>T (p.L271=) - TCIRG1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850C>T r.(?) p.(Arg284Trp) Unknown - VUS g.67811641C>T - TCIRG1(NM_006019.4):c.850C>T (p.R284W) - TCIRG1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.851G>A r.(?) p.(Arg284Gln) Unknown - VUS g.67811642G>A - TCIRG1(NM_006019.4):c.851G>A (p.(Arg284Gln)) - TCIRG1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.854_855del r.(?) p.(Val285Alafs*204) Both (homozygous) - pathogenic (recessive) g.67811645_67811646del g.68044178_68044179del 853_854delGT - TCIRG1_000029 - PubMed: Liu 2021 - - Germline yes - - - - DNA SEQ-NG blood Whole exome sequencing OPTB FamOP2 PubMed: Liu 2021 2 generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes (Pakistan) - - - yes - 2 Tahir Khan
?/. - c.897G>T r.(?) p.(Met299Ile) Unknown - VUS g.67811688G>T g.68044221G>T TCIRG1(NM_001351059.1):c.3G>T (p.M1?) - TCIRG1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.971dup r.(?) p.(Cys324Trpfs*166) Both (homozygous) - pathogenic (recessive) g.67811762dup g.68044295dup g.67811761-67811761dupG - TCIRG1_000030 - PubMed: Liu 2021 - - Germline yes - - - - DNA SEQ-NG blood Whole exome sequencing OPTB FamOP4 PubMed: Liu 2021 2 generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes (Pakistan) - - - yes - 2 Tahir Khan
+?/. - c.971dup r.(?) p.(Cys324Trpfs*166) Both (homozygous) - pathogenic (recessive) g.67811762dup g.68044295dup 971dupG - TCIRG1_000030 - PubMed: Liu 2021 - - Germline - - - - - DNA SEQ-NG blood Whole exome sequencing OPTB FamOP10 PubMed: Liu 2021 2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes (Pakistan) - - - yes - 1 Tahir Khan
+/. - c.979C>T r.(?) p.(Arg327Ter) Unknown - pathogenic g.67811770C>T g.68044303C>T TCIRG1(NM_006019.4):c.979C>T (p.R327*) - TCIRG1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.996G>A r.(?) p.(Leu332=) Unknown - likely benign g.67811787G>A g.68044320G>A TCIRG1(NM_006019.2):c.996G>A (p.L332=) - TCIRG1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1009C>T r.(?) p.(Arg337Trp) Unknown - VUS g.67811800C>T g.68044333C>T TCIRG1(NM_006019.2):c.1009C>T (p.R337W) - TCIRG1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1051C>T r.(?) p.(Arg351Cys) Unknown - VUS g.67812455C>T - TCIRG1(NM_006019.4):c.1051C>T (p.(Arg351Cys)) - TCIRG1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1052G>A r.(?) p.(Arg351His) Unknown - VUS g.67812456G>A - TCIRG1(NM_001351059.1):c.158G>A (p.R53H) - TCIRG1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1122_1124dup r.(?) p.(Val375dup) Unknown - VUS g.67812526_67812528dup g.68045059_68045061dup TCIRG1(NM_006019.2):c.1122_1124dupCGT (p.V375dup) - TCIRG1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1138G>A r.(?) p.(Val380Met) Unknown - likely benign g.67812542G>A - TCIRG1(NM_006019.3):c.1138G>A (p.(Val380Met)) - TCIRG1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1144C>T r.(?) p.(Arg382Cys) Unknown - VUS g.67812548C>T - TCIRG1(NM_006019.4):c.1144C>T (p.(Arg382Cys)) - TCIRG1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1165+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.67812570G>A - - - TCIRG1_000032 - PubMed: Liu 2021 - - Germline yes - - - - DNA SEQ-NG blood Whole exome sequencing OPTB FamOP5 PubMed: Liu 2021 2 generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes (Pakistan) - - - yes - 2 Tahir Khan
?/. - c.1209G>A r.(?) p.(Met403Ile) Parent #1 - VUS g.67814943G>A g.68047476G>A - - TCIRG1_000025 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140191063 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.1209G>A r.(?) p.(Met403Ile) Unknown - VUS g.67814943G>A - TCIRG1(NM_006019.3):c.1209G>A (p.(Met403Ile)) - TCIRG1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1245= r.(=) p.(Leu415=) Unknown - benign g.67814979G>C g.68047512G>C TCIRG1(NM_006019.4):c.1245G>C (p.L415=) - TCIRG1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1249G>A r.(?) p.(Ala417Thr) Unknown - VUS g.67814983G>A g.68047516G>A TCIRG1(NM_006019.2):c.1249G>A (p.A417T), TCIRG1(NM_006019.3):c.1249G>A (p.(Ala417Thr)), TCIRG1(NM_006019.4):c.1249G>A (p.A417T) - TCIRG1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1249G>A r.(?) p.(Ala417Thr) Unknown - VUS g.67814983G>A g.68047516G>A TCIRG1(NM_006019.2):c.1249G>A (p.A417T), TCIRG1(NM_006019.3):c.1249G>A (p.(Ala417Thr)), TCIRG1(NM_006019.4):c.1249G>A (p.A417T) - TCIRG1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1249G>A r.(?) p.(Ala417Thr) Parent #1 - VUS g.67814983G>A g.68047516G>A - - TCIRG1_000006 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140963213 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.1249G>A r.(?) p.(Ala417Thr) Unknown - VUS g.67814983G>A - TCIRG1(NM_006019.2):c.1249G>A (p.A417T), TCIRG1(NM_006019.3):c.1249G>A (p.(Ala417Thr)), TCIRG1(NM_006019.4):c.1249G>A (p.A417T) - TCIRG1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1249G>A r.(?) p.(Ala417Thr) Unknown - VUS g.67814983G>A - TCIRG1(NM_006019.2):c.1249G>A (p.A417T), TCIRG1(NM_006019.3):c.1249G>A (p.(Ala417Thr)), TCIRG1(NM_006019.4):c.1249G>A (p.A417T) - TCIRG1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1263C>T r.(?) p.(Val421=) Unknown - likely benign g.67814997C>T - TCIRG1(NM_006019.2):c.1263C>T (p.V421=) - TCIRG1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1296G>A r.(?) p.(Ala432=) Unknown - likely benign g.67815030G>A g.68047563G>A TCIRG1(NM_006019.2):c.1296G>A (p.A432=) - TCIRG1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1370_1384del r.(?) p.(Thr457_Tyr461del) Unknown - VUS g.67815178_67815192del - TCIRG1(NM_006019.3):c.1362_1376del (p.(Thr457_Tyr461del)) - TCIRG1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1371C>T r.(?) p.(Thr457=) Unknown - VUS g.67815179C>T - TCIRG1(NM_001351059.1):c.477C>T (p.T159=) - TCIRG1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1402G>T r.(?) p.(Ala468Ser) Unknown - VUS g.67815210G>T g.68047743G>T TCIRG1(NM_006019.2):c.1402G>T (p.A468S) - TCIRG1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1431T>C r.(?) p.(Ser477=) Unknown - likely benign g.67815239T>C - TCIRG1(NM_001351059.1):c.537T>C (p.S179=) - TCIRG1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1450C>T r.(?) p.(Gln484Ter) Unknown - pathogenic g.67815258C>T g.68047791C>T TCIRG1(NM_006019.4):c.1450C>T (p.Q484*) - TCIRG1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1487C>T r.(?) p.(Thr496Met) Unknown - likely benign g.67815372C>T - TCIRG1(NM_001351059.1):c.593C>T (p.T198M) - CHKA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1488G>A r.(?) p.(Thr496=) Unknown - likely benign g.67815373G>A - TCIRG1(NM_006019.2):c.1488G>A (p.T496=) - CHKA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1515C>T r.(?) p.(Thr505=) Unknown - likely benign g.67815400C>T g.68047933C>T TCIRG1(NM_006019.2):c.1515C>T (p.T505=) - TCIRG1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1515C>T r.(?) p.(Thr505=) Unknown - likely benign g.67815400C>T - TCIRG1(NM_006019.2):c.1515C>T (p.T505=) - TCIRG1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1536C>T r.(?) p.(Tyr512=) Unknown - likely benign g.67815421C>T - TCIRG1(NM_001351059.1):c.642C>T (p.Y214=) - CHKA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1538C>T r.(?) p.(Pro513Leu) Unknown - VUS g.67815423C>T - TCIRG1(NM_001351059.1):c.644C>T (p.P215L) - CHKA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1554+2T>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.67815441T>A - - - TCIRG1_000033 - PubMed: Liu 2021 - - Germline yes - - - - DNA SEQ-NG blood Whole exome sequencing OPTB FamOP6 PubMed: Liu 2021 2 generation family, affected sister/brother, unaffected heterozygous carrier parents F;M yes (Pakistan) - - - yes - 2 Tahir Khan
+?/. - c.1555-2A>C r.(?) p.(?) Unknown - likely pathogenic g.67816344A>C g.68048877A>C TCIRG1 (NM_006019.3):c.1555-2A>C /c.1775G>A(p.W592*) - TCIRG1_000044 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 111 - - - DNA SEQ-NG-I blood - ? WHP11 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
+?/. - c.1555-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.67816344A>G - - - TCIRG1_000034 - PubMed: Liu 2021 - - Germline - - - - - DNA SEQ-NG blood Whole exome sequencing OPTB FamOP7 PubMed: Liu 2021 2 generation family, 1 affected, unaffected heterozygous carrier parents F yes (Pakistan) - - - yes - 1 Tahir Khan
?/. - c.1562G>A r.(?) p.(Ser521Asn) Unknown - VUS g.67816353G>A - TCIRG1(NM_001351059.1):c.668G>A (p.S223N) - CHKA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1583G>C r.(?) p.(Ser528Thr) Unknown - likely benign g.67816374G>C - TCIRG1(NM_001351059.1):c.689G>C (p.S230T) - CHKA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1630G>A r.(?) p.(Val544Met) Unknown - VUS g.67816421G>A - TCIRG1(NM_001351059.1):c.736G>A (p.V246M) - CHKA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1672G>C r.(?) p.(Val558Leu) Unknown - likely benign g.67816463G>C - TCIRG1(NM_006019.3):c.1672G>C (p.(Val558Leu)) - CHKA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1673+13G>A r.(=) p.(=) Unknown - likely benign g.67816477G>A g.68049010G>A TCIRG1(NM_006019.2):c.1673+13G>A - TCIRG1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1674-9G>C r.(=) p.(=) Unknown - likely benign g.67816539G>C - TCIRG1(NM_006019.2):c.1674-9G>C - CHKA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1674-5G>A r.spl? p.? Unknown - likely benign g.67816543G>A g.68049076G>A TCIRG1(NM_001351059.2):c.780-5G>A - CHKA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1674-1G>A r.spl? p.? Unknown - pathogenic g.67816547G>A g.68049080G>A TCIRG1(NM_001351059.1):c.780-1G>A, TCIRG1(NM_006019.2):c.1674-1G>A, TCIRG1(NM_006019.3):c.1674-1G>A (p.?) - TCIRG1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1674-1G>A r.spl? p.? Unknown - likely pathogenic g.67816547G>A - TCIRG1(NM_001351059.1):c.780-1G>A, TCIRG1(NM_006019.2):c.1674-1G>A, TCIRG1(NM_006019.3):c.1674-1G>A (p.?) - TCIRG1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1674-1G>A r.spl? p.? Unknown - pathogenic g.67816547G>A - TCIRG1(NM_001351059.1):c.780-1G>A, TCIRG1(NM_006019.2):c.1674-1G>A, TCIRG1(NM_006019.3):c.1674-1G>A (p.?) - TCIRG1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1743C>T r.(?) p.(Phe581=) Unknown - likely benign g.67816617C>T - TCIRG1(NM_006019.4):c.1743C>T (p.F581=) - CHKA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1775G>A r.(?) p.(Trp592*) Unknown - likely pathogenic g.67816649G>A g.68049182G>A TCIRG1 (NM_006019.3):c.1555-2A>C /c.1775G>A(p.W592*) - TCIRG1_000045 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 111 - - - DNA SEQ-NG-I blood - ? WHP11 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
-?/. - c.1800C>A r.(?) p.(Ala600=) Unknown - likely benign g.67816674C>A - TCIRG1(NM_006019.2):c.1800C>A (p.A600=) - CHKA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1800C>T r.(?) p.(Ala600=) Unknown - likely benign g.67816674C>T g.68049207C>T TCIRG1(NM_006019.2):c.1800C>T (p.A600=) - TCIRG1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1800C>T r.(?) p.(Ala600=) Unknown - likely benign g.67816674C>T g.68049207C>T TCIRG1(NM_006019.2):c.1800C>T (p.A600=) - TCIRG1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1809C>T r.(?) p.(Ala603=) Unknown - likely benign g.67816683C>T - TCIRG1(NM_006019.2):c.1809C>T (p.A603=) - CHKA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1875C>G r.(?) p.(Leu625=) Unknown - likely benign g.67816749C>G - TCIRG1(NM_001351059.1):c.981C>G (p.L327=) - CHKA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1883G>A r.(?) p.(Arg628Gln) Unknown - VUS g.67816757G>A - TCIRG1(NM_001351059.1):c.989G>A (p.R330Q) - CHKA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1978C>T r.(?) p.(Arg660Cys) Unknown - VUS g.67817220C>T g.68049753C>T TCIRG1(NM_001351059.1):c.1084C>T (p.R362C), TCIRG1(NM_006019.2):c.1978C>T (p.R660C) - CHKA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1978C>T r.(?) p.(Arg660Cys) Unknown - likely benign g.67817220C>T - TCIRG1(NM_001351059.1):c.1084C>T (p.R362C), TCIRG1(NM_006019.2):c.1978C>T (p.R660C) - CHKA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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