Full data view for gene TAP2

Information The variants shown are described using the NM_000544.3 transcript reference sequence.

100 entries on 1 page. 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.-4459C>T r.(?) p.(=) Unknown - likely benign g.32810884G>A - PSMB8(NM_148919.4):c.148-18C>T - PSMB8_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4397C>T r.(?) p.(=) Unknown - likely benign g.32810822G>A - PSMB8(NM_148919.4):c.192C>T (p.N64=) - PSMB8_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4369A>T r.(?) p.(=) Unknown - likely benign g.32810794T>A g.32843017T>A PSMB8(NM_004159.4):c.208A>T (p.(Thr70Ser)), PSMB8(NM_004159.5):c.208A>T (p.T70S), PSMB8(NM_148919.4):c.220A>T (p.T74S) - PSMB8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4369A>T r.(?) p.(=) Unknown - benign g.32810794T>A - PSMB8(NM_004159.4):c.208A>T (p.(Thr70Ser)), PSMB8(NM_004159.5):c.208A>T (p.T70S), PSMB8(NM_148919.4):c.220A>T (p.T74S) - PSMB8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4369A>T r.(?) p.(=) Unknown - VUS g.32810794T>A - PSMB8(NM_004159.4):c.208A>T (p.(Thr70Ser)), PSMB8(NM_004159.5):c.208A>T (p.T70S), PSMB8(NM_148919.4):c.220A>T (p.T74S) - PSMB8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4367C>A r.(?) p.(=) Unknown - likely benign g.32810792G>T g.32843015G>T PSMB8(NM_004159.5):c.210C>A (p.T70=) - PSMB8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-4365C>T r.(?) p.(=) Unknown - likely pathogenic g.32810790G>A g.32843013G>A - - PSMB8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4349C>G r.(?) p.(=) Unknown - VUS g.32810774G>C - PSMB8(NM_148919.4):c.240C>G (p.F80L) - PSMB8_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4327G>C r.(?) p.(=) Unknown - VUS g.32810752C>G - PSMB8(NM_004159.5):c.250G>C (p.V84L) - PSMB8_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4301C>T r.(?) p.(=) Unknown - likely benign g.32810726G>A g.32842949G>A PSMB8(NM_004159.5):c.276C>T (p.S92=) - PSMB8_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-4060_-4059del r.(?) p.(=) Unknown - likely pathogenic g.32810485_32810486del - PSMB8(NM_004159.5):c.359_360delGT (p.C120Sfs*54) - PSMB8_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4047G>A r.(?) p.(=) Unknown - benign g.32810472C>T g.32842695C>T PSMB8(NM_148919.4):c.384G>A (p.E128=) - PSMB8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4018C>T r.(?) p.(=) Unknown - benign g.32810443G>A g.32842666G>A PSMB8(NM_004159.5):c.395+6C>T - PSMB8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4018C>T r.(?) p.(=) Unknown - benign g.32810443G>A g.32842666G>A PSMB8(NM_004159.5):c.395+6C>T - PSMB8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3722C>A r.(?) p.(=) Unknown - benign g.32810147G>T g.32842370G>T PSMB8(NM_148919.4):c.408-107C>A - PSMB8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3602C>A r.(?) p.(=) Unknown - likely benign g.32810027G>T - PSMB8(NM_004159.5):c.409C>A (p.R137=) - PSMB8_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3590C>T r.(?) p.(=) Unknown - VUS g.32810015G>A - PSMB8(NM_148919.4):c.433C>T (p.R145C) - PSMB8_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3576G>A r.(?) p.(=) Unknown - likely benign g.32810001C>T - PSMB8(NM_148919.4):c.447G>A (p.S149=) - PSMB8_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3540G>A r.(?) p.(=) Unknown - benign g.32809965C>T g.32842188C>T PSMB8(NM_004159.5):c.471G>A (p.Q157=) - PSMB8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3522C>T r.(?) p.(=) Unknown - likely benign g.32809947G>A g.32842170G>A PSMB8(NM_004159.5):c.489C>T (p.L163=), PSMB8(NM_148919.4):c.501C>T (p.(Leu167=), p.L167=) - PSMB8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3522C>T r.(?) p.(=) Unknown - likely benign g.32809947G>A g.32842170G>A PSMB8(NM_004159.5):c.489C>T (p.L163=), PSMB8(NM_148919.4):c.501C>T (p.(Leu167=), p.L167=) - PSMB8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3522C>T r.(?) p.(=) Unknown - likely benign g.32809947G>A - PSMB8(NM_004159.5):c.489C>T (p.L163=), PSMB8(NM_148919.4):c.501C>T (p.(Leu167=), p.L167=) - PSMB8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3462T>C r.(?) p.(=) Unknown - benign g.32809887A>G g.32842110A>G PSMB8(NM_148919.4):c.537+24T>C - PSMB8_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3157C>A r.(?) p.(=) Unknown - benign g.32809582G>T g.32841805G>T PSMB8(NM_148919.4):c.538-70C>A - PSMB8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3070C>T r.(?) p.(=) Unknown - likely benign g.32809495G>A g.32841718G>A PSMB8(NM_148919.4):c.555C>T (p.Y185=) - PSMB8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3002A>G r.(?) p.(=) Unknown - VUS g.32809427T>C - PSMB8(NM_148919.4):c.623A>G (p.Y208C) - PSMB8_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3000G>A r.(?) p.(=) Unknown - VUS g.32809425C>T g.32841648C>T PSMB8(NM_004159.5):c.613G>A (p.G205R), PSMB8(NM_148919.3):c.625G>A (p.(Gly209Arg)) - PSMB8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3000G>A r.(?) p.(=) Unknown - VUS g.32809425C>T g.32841648C>T PSMB8(NM_004159.5):c.613G>A (p.G205R), PSMB8(NM_148919.3):c.625G>A (p.(Gly209Arg)) - PSMB8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2893C>T r.(?) p.(=) Unknown - likely benign g.32809318G>A - PSMB8(NM_148919.4):c.732C>T (p.G244=) - PSMB8_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2380T>C r.(?) p.(=) Unknown - likely benign g.32808805A>G - PSMB8(NM_004159.5):c.750T>C (p.D250=) - PSMB8_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2338G>A r.(?) p.(=) Unknown - likely benign g.32808763C>T - PSMB8(NM_148919.4):c.804G>A (p.L268=) - PSMB8_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2328C>T r.(?) p.(=) Unknown - VUS g.32808753G>A g.32840976G>A PSMB8(NM_004159.5):c.802C>T (p.R268W) - PSMB8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2318A>G r.(?) p.(=) Unknown - likely benign g.32808743T>C g.32840966T>C PSMB8(NM_148919.4):c.824A>G (p.N275S) - PSMB8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4-20C>T r.(=) p.(=) Unknown - likely benign g.32806034G>A - TAP2(NM_000544.3):c.-4-20C>T - PSMB8_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4-10C>G r.(=) p.(=) Unknown - likely benign g.32806024G>C g.32838247G>C TAP2(NM_001290043.1):c.-4-10C>G - PSMB8_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4C>T r.(?) p.(Arg2Trp) Unknown - likely benign g.32806007G>A - TAP2(NM_000544.3):c.4C>T (p.R2W) - PSMB8_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4C>T r.(?) p.(Arg2Trp) Both (homozygous) - likely benign g.32806007G>A g.32838230G>A - - PSMB8_000042 - PubMed: Chia 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPatII1 PubMed: Chia 2018 2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs M yes Jordan - - - - - 4 Johan den Dunnen
?/. - c.4C>T r.(?) p.(Arg2Trp) Both (homozygous) - likely benign g.32806007G>A g.32838230G>A - - PSMB8_000042 - PubMed: Chia 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPatII4 PubMed: Chia 2018 affected sister F yes Jordan - - - - - 1 Johan den Dunnen
-?/. - c.44T>C r.(?) p.(Val15Ala) Unknown - likely benign g.32805967A>G g.32838190A>G TAP2(NM_000544.3):c.44T>C (p.(Val15Ala)) - PSMB8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139G>C r.(?) p.(Gly47Arg) Unknown - VUS g.32805872C>G g.32838095C>G TAP2(NM_000544.3):c.139G>C (p.(Gly47Arg)) - TAP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159A>G r.(?) p.(Leu53=) Unknown - likely benign g.32805852T>C g.32838075T>C TAP2(NM_001290043.1):c.159A>G (p.L53=) - TAP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.192A>G r.(?) p.(Thr64=) Unknown - likely benign g.32805819T>C g.32838042T>C TAP2(NM_018833.2):c.192A>G (p.T64=) - TAP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.222C>A r.(?) p.(Pro74=) Unknown - likely benign g.32805789G>T - TAP2(NM_000544.3):c.222C>A (p.P74=) - PSMB8_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.313G>A r.(?) p.(Gly105Arg) Unknown - VUS g.32805698C>T g.32837921C>T TAP2(NM_001290043.1):c.313G>A (p.G105R) - PSMB8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.445C>G r.(?) p.(Leu149Val) Unknown - VUS g.32805566G>C g.32837789G>C TAP2(NM_001290043.1):c.445C>G (p.L149V) - PSMB8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.494-11G>T r.(=) p.(=) Unknown - benign g.32805439C>A g.32837662C>A TAP2(NM_018833.2):c.494-11G>T - TAP2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.591C>T r.(?) p.(Cys197=) Unknown - likely benign g.32805331G>A g.32837554G>A TAP2(NM_001290043.1):c.591C>T (p.C197=) - PSMB8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.608+7G>A r.(=) p.(=) Unknown - benign g.32805307C>T g.32837530C>T TAP2(NM_000544.3):c.608+7G>A - TAP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.658C>A r.(?) p.(Arg220=) Unknown - likely benign g.32803501G>T g.32835724G>T TAP2(NM_000544.3):c.658C>A (p.R220=) - TAP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.786C>A r.(?) p.(Asn262Lys) Unknown - likely benign g.32803090G>T g.32835313G>T TAP2(NM_001290043.1):c.786C>A (p.N262K) - TAP2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.938G>A r.(?) p.(Arg313His) Unknown - benign g.32802938C>T g.32835161C>T TAP2(NM_018833.2):c.938G>A (p.R313H) - TAP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.970G>A r.(?) p.(Ala324Thr) Unknown - likely benign g.32800577C>T g.32832800C>T TAP2(NM_018833.2):c.970G>A (p.A324T) - TAP2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.972A>G r.(?) p.(Ala324=) Unknown - likely benign g.32800575T>C - TAP2(NM_000544.3):c.972A>G (p.A324=) - TAP2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.983C>G r.(?) p.(Ala328Gly) Unknown - likely benign g.32800564G>C g.32832787G>C TAP2(NM_001290043.1):c.983C>G (p.A328G), TAP2(NM_018833.2):c.983C>G (p.A328G) - TAP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.983C>G r.(?) p.(Ala328Gly) Unknown - likely benign g.32800564G>C g.32832787G>C TAP2(NM_001290043.1):c.983C>G (p.A328G), TAP2(NM_018833.2):c.983C>G (p.A328G) - TAP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.984G>A r.(?) p.(Ala328=) Unknown - likely benign g.32800563C>T g.32832786C>T TAP2(NM_001290043.1):c.984G>A (p.A328=) - TAP2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1087C>T r.(?) p.(Arg363Trp) Unknown - VUS g.32800460G>A - TAP2(NM_000544.3):c.1087C>T (p.R363W) - TAP2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1118G>A r.(?) p.(Arg373His) Unknown - likely benign g.32800429C>T - TAP2(NM_000544.3):c.1118G>A (p.R373H), TAP2(NM_001290043.1):c.1118G>A (p.R373H) - TAP2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1118G>A r.(?) p.(Arg373His) Unknown - likely benign g.32800429C>T - TAP2(NM_000544.3):c.1118G>A (p.R373H), TAP2(NM_001290043.1):c.1118G>A (p.R373H) - TAP2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1135G>A r.(?) p.(Val379Ile) Unknown - benign g.32800412C>T g.32832635C>T TAP2(NM_000544.3):c.1135G>A (p.V379I) - TAP2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1144-6T>A r.(=) p.(=) Unknown - VUS g.32800244A>T g.32832467A>T TAP2(NM_000544.3):c.1144-6T>A (p.(=)) - TAP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1144-6T>C r.(=) p.(=) Unknown - likely benign g.32800244A>G g.32832467A>G TAP2(NM_001290043.1):c.1144-6T>C - TAP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1144-5T>C r.spl? p.? Unknown - VUS g.32800243A>G g.32832466A>G TAP2(NM_000544.3):c.1144-5T>C (p.?) - TAP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1158G>T r.(?) p.(Gly386=) Unknown - benign g.32800224C>A g.32832447C>A TAP2(NM_000544.3):c.1158G>T (p.G386=) - TAP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1272+7G>A r.(=) p.(=) Unknown - likely benign g.32800103C>T - TAP2(NM_000544.3):c.1272+7G>A - TAP2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1308C>T r.(?) p.(Asn436=) Parent #1 - benign g.32798548G>A g.32830771G>A - - TAP2_000034 166 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1042116 Germline - 166/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 166 Mohammed Faruq
-/. - c.1308C>T - p.? Both (homozygous) - benign g.32798548G>A g.32830771G>A - - TAP2_000034 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1042116 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.1317T>C r.(?) p.(Ala439=) Unknown - likely benign g.32798539A>G - TAP2(NM_001290043.2):c.1317T>C (p.A439=) - TAP2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1354A>G r.(?) p.(Asn452Asp) Unknown - likely benign g.32798502T>C g.32830725T>C TAP2(NM_001290043.1):c.1354A>G (p.N452D) - TAP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1403T>C r.(?) p.(Val468Ala) Unknown - VUS g.32798453A>G - TAP2(NM_000544.3):c.1403T>C (p.V468A) - TAP2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1417G>A r.(?) p.(Val473Ile) Unknown - VUS g.32798439C>T g.32830662C>T TAP2(NM_001290043.2):c.1417G>A (p.V473I) - TAP2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1439G>A r.(?) p.(Arg480His) Unknown - VUS g.32798417C>T - TAP2(NM_000544.3):c.1439G>A (p.R480H) - TAP2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1461+20A>G r.(=) p.(=) Unknown - likely benign g.32798375T>C - TAP2(NM_000544.3):c.1461+20A>G - TAP2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1462-7T>C r.(=) p.(=) Unknown - likely benign g.32798224A>G g.32830447A>G TAP2(NM_001290043.1):c.1462-7T>C, TAP2(NM_018833.2):c.1462-7T>C - TAP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1462-7T>C r.(=) p.(=) Unknown - likely benign g.32798224A>G g.32830447A>G TAP2(NM_001290043.1):c.1462-7T>C, TAP2(NM_018833.2):c.1462-7T>C - TAP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1635+18A>G r.(=) p.(=) Unknown - likely benign g.32798026T>C - TAP2(NM_000544.3):c.1635+18A>G - TAP2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1636-10T>C r.(=) p.(=) Unknown - benign g.32797876A>G g.32830099A>G TAP2(NM_000544.3):c.1636-10T>C - TAP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1636G>A r.(?) p.(Val546Met) Unknown - VUS g.32797866C>T g.32830089C>T TAP2(NM_000544.3):c.1636G>A (p.(Val546Met)) - TAP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1655A>G r.(?) p.(Glu552Gly) Unknown - VUS g.32797847T>C g.32830070T>C TAP2(NM_001290043.1):c.1655A>G (p.E552G) - TAP2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1733C>T r.(?) p.(Ala578Val) Unknown - VUS g.32797769G>A - TAP2(NM_001290043.1):c.1733C>T (p.A578V) - TAP2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1752C>T r.(?) p.(His584=) Unknown - likely benign g.32797750G>A g.32829973G>A TAP2(NM_001290043.1):c.1752C>T (p.H584=) - TAP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1755A>G r.(?) p.(Ala585=) Unknown - likely benign g.32797747T>C g.32829970T>C TAP2(NM_000544.3):c.1755A>G (p.A585=), TAP2(NM_001290043.1):c.1755A>G (p.A585=) - TAP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1755A>G r.(?) p.(Ala585=) Unknown - benign g.32797747T>C - TAP2(NM_000544.3):c.1755A>G (p.A585=), TAP2(NM_001290043.1):c.1755A>G (p.A585=) - TAP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1776G>A r.(?) p.(Met592Ile) Unknown - likely benign g.32797726C>T - TAP2(NM_000544.3):c.1776G>A (p.M592I) - TAP2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1795+8C>T r.(=) p.(=) Unknown - likely benign g.32797699G>A - TAP2(NM_001290043.1):c.1795+8C>T - TAP2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1812A>G r.(?) p.(Gly604=) Unknown - benign g.32797297T>C g.32829520T>C TAP2(NM_000544.3):c.1812A>G (p.G604=) - TAP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1826C>T r.(?) p.(Ala609Val) Unknown - benign g.32797283G>A - TAP2(NM_000544.3):c.1826C>T (p.A609V) - TAP2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1875G>A r.(?) p.(Pro625=) Unknown - likely benign g.32797234C>T - TAP2(NM_000544.3):c.1875G>A (p.P625=) - TAP2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1920G>A r.(?) p.(Gln640=) Unknown - likely benign g.32797189C>T - TAP2(NM_000544.3):c.1920G>A (p.Q640=) - TAP2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1932+10G>A r.(=) p.(=) Unknown - benign g.32797167C>T g.32829390C>T TAP2(NM_000544.3):c.1932+10G>A - TAP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1933-6del r.(=) p.(=) Unknown - likely benign g.32796820del - TAP2(NM_000544.3):c.1933-6delC - TAP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1993= r.(=) p.(Ala665=) Unknown - benign g.32796751T>C g.32828974T>C TAP2(NM_000544.3):c.1993A>G (p.T665A) - TAP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2059= r.(=) p.(Gln687=) Unknown - benign g.32796685A>G g.32828908A>G TAP2(NM_000544.3):c.2059T>C (p.*687Qext*17) - TAP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2075T>A r.(?) p.(Leu692His) Unknown - VUS g.32796669A>T g.32828892A>T TAP2(NM_000544.3):c.2075T>A (p.L692H) - TAP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2091= r.(=) p.(Val697=) Unknown - benign g.32796653C>A g.32828876C>A TAP2(NM_000544.3):c.2091G>T (p.V697=) - TAP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6532del r.? p.? Unknown - benign g.32790109del g.32822332del TAP2(NM_018833.2):c.1933-5delT - TAP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6532dup r.? p.? Unknown - benign g.32790109dup g.32822332dup TAP2(NM_018833.2):c.1933-5dupT - TAP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6543C>T - p.? Parent #1 - benign g.32790089G>A g.32822312G>A - - TAP2_000033 83 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16870908 Germline - 83/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 83 Mohammed Faruq
-/. - c.*6543C>T - p.? Both (homozygous) - benign g.32790089G>A g.32822312G>A - - TAP2_000033 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16870908 Germline - 3/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-/. - c.*12012G>A r.(=) p.(=) Unknown - benign g.32784620C>T g.32816843C>T HLA-DOB(NM_002120.4):c.91+18G>A - HLA-DOB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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