Full data view for gene TBC1D23

Information The variants shown are described using the NM_001199198.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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.-2496498_*13910968del r.0? p.0? Unknown ACMG VUS g.97483365_113953480del g.97764521_114234636del chr3, g.97483365_113953480del, arr([GRCh37] 3q11.2q13.31(97483365_113953480)x1), heterozygous - IMPG2_000140 no gene indicated in publication! PubMed: Perea-Romero 2021 - - Unknown ? - - - - DNA ? - clinical exome sequencing retinal disease RP-3055 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
-?/. - c.53+8A>G r.(=) p.(=) Unknown - likely benign g.99979923A>G - TBC1D23(NM_001199198.3):c.53+8A>G - TBC1D23_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.54-8T>A r.(=) p.(=) Unknown - likely benign g.99998485T>A - TBC1D23(NM_001199198.3):c.54-8T>A - TBC1D23_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.92G>C r.(?) p.(Cys31Ser) Unknown - benign g.99998531G>C - TBC1D23(NM_001199198.2):c.92G>C (p.(Cys31Ser)), TBC1D23(NM_018309.4):c.92G>C (p.C31S) - TBC1D23_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.92G>C r.(?) p.(Cys31Ser) Unknown - likely benign g.99998531G>C - TBC1D23(NM_001199198.2):c.92G>C (p.(Cys31Ser)), TBC1D23(NM_018309.4):c.92G>C (p.C31S) - TBC1D23_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.119T>C r.(?) p.(Ile40Thr) Unknown - likely benign g.99998558T>C - TBC1D23(NM_018309.4):c.119T>C (p.I40T) - TBC1D23_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.406G>A r.(?) p.(Val136Met) Unknown - likely benign g.100002585G>A - TBC1D23(NM_001199198.2):c.406G>A (p.(Val136Met)) - TBC1D23_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.423A>G r.(?) p.(Pro141=) Unknown - benign g.100002602A>G - TBC1D23(NM_018309.4):c.423A>G (p.P141=) - TBC1D23_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.460A>C r.(?) p.(Asn154His) Unknown - VUS g.100002639A>C - TBC1D23(NM_018309.4):c.460A>C (p.N154H) - TBC1D23_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.476+10G>A r.(=) p.(=) Unknown - likely benign g.100002665G>A - TBC1D23(NM_001199198.3):c.476+10G>A - TBC1D23_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.899G>C r.(?) p.(Ser300Thr) Unknown - VUS g.100016789G>C g.100297945G>C TBC1D23(NM_001199198.3):c.899G>C (p.S300T) - TBC1D23_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.951_954del r.(?) p.(Cys317fs) Both (homozygous) - likely pathogenic g.100016841_100016844del g.100297997_100298000del 951_954delTCTG - TBC1D23_000010 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
-?/. - c.1023G>A r.(?) p.(Val341=) Unknown - likely benign g.100018106G>A - TBC1D23(NM_018309.4):c.1023G>A (p.V341=) - TBC1D23_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1092+4A>G r.spl? p.? Unknown - VUS g.100018179A>G - TBC1D23(NM_001199198.2):c.1092+4A>G (p.?), TBC1D23(NM_001199198.3):c.1092+4A>G, TBC1D23(NM_018309.4):c.1092+4A>G - TBC1D23_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1092+4A>G r.spl? p.? Unknown - likely benign g.100018179A>G - TBC1D23(NM_001199198.2):c.1092+4A>G (p.?), TBC1D23(NM_001199198.3):c.1092+4A>G, TBC1D23(NM_018309.4):c.1092+4A>G - TBC1D23_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1092+4A>G r.spl? p.? Unknown - VUS g.100018179A>G - TBC1D23(NM_001199198.2):c.1092+4A>G (p.?), TBC1D23(NM_001199198.3):c.1092+4A>G, TBC1D23(NM_018309.4):c.1092+4A>G - TBC1D23_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1122G>A r.(?) p.(Gln374=) Unknown - likely benign g.100020940G>A - TBC1D23(NM_018309.4):c.1122G>A (p.Q374=) - TBC1D23_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1306+10T>C r.(=) p.(=) Unknown - benign g.100023742T>C - TBC1D23(NM_018309.4):c.1306+10T>C - TBC1D23_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1349A>C r.(?) p.(Glu450Ala) Unknown - VUS g.100025323A>C g.100306479A>C TBC1D23(NM_018309.4):c.1349A>C (p.E450A) - TBC1D23_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1468A>G r.(?) p.(Met490Val) Unknown - VUS g.100029301A>G - TBC1D23(NM_001199198.3):c.1468A>G (p.(Met490Val)) - TBC1D23_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1526del r.(?) p.(Ile509LysfsTer27) Both (homozygous) - likely pathogenic (recessive) g.100029359del g.100310515del - - TBC1D23_000020 novel candidate disease gene PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M268 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents once removed - yes Iran Persia - - - - 2 Johan den Dunnen
+?/. 14 c.1553G>A r.spl? p.(Arg518Gln) Both (homozygous) - likely pathogenic g.100029386G>A g.100310542G>A - - TBC1D23_000004 fibroblasts not available to assess splicing PubMed: Marin-Valencia 2017 - - Germline - - - - - DNA SEQ-NG blood/saliva/skin WES PCH FamIPatIV1 PubMed: Marin-Valencia 2017 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M yes Egypt - >16y - - - 2 Thymo van Camerijk
+?/. 14 c.1553G>A r.spl? p.(Arg518Gln) Both (homozygous) - likely pathogenic g.100029386G>A g.100310542G>A - - TBC1D23_000004 fibroblasts not available to assess splicing PubMed: Marin-Valencia 2017 - - Germline - - - - - DNA SEQ-NG blood/saliva/skin WES PCH FamIPatIV5 PubMed: Marin-Valencia 2017 FamIPatIV5 M yes Egypt - >06y - - - 1 Thymo van Camerijk
?/. - c.1597C>T r.(?) p.(Arg533Trp) Unknown - VUS g.100030720C>T g.100311876C>T TBC1D23(NM_001199198.3):c.1597C>T (p.R533W) - TBC1D23_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16i c.1687+2T>A r.1599_1687del p.His534Trpfs*36 Both (homozygous) - pathogenic g.100035033T>A g.100316189T>A - - TBC1D23_000006 - PubMed: Marin-Valencia I 2017 - - Germline - - - - - DNA, RNA SEQ-NG, RT-PCR blood/saliva/skin, fibroblast WES, PCH II-III-1 PubMed: Marin-Valencia 2017 non-identical twins (II-III-1 & II-III-2) F yes Egypt - >04y - - - 2 Thymo van Camerijk
+/. 16i c.1687+2T>A r.1599_1687del p.His534Trpfs*36 Both (homozygous) - pathogenic g.100035033T>A g.100316189T>A - - TBC1D23_000006 - PubMed: Marin-Valencia 2017 - - Germline - - - - - DNA, RNA SEQ-NG, RT-PCR blood/saliva/skin, fibroblast WES, PCH II-III-2 PubMed: Marin-Valencia 2017 non-identical twins (II-III-1 & II-III-2) F yes Egypt - >04y - - - 1 Thymo van Camerijk
+?/. - c.1687+2T>G r.spl? p.? Both (homozygous) - likely pathogenic g.100035033T>G g.100316189T>G - - TBC1D23_000007 - PubMed: Riazuddin 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID PKMR52 PubMed: Riazuddin 2017 - - - Pakistan Pathan - - - - 1 Johan den Dunnen
-?/. - c.2018+3A>G r.spl? p.? Unknown - likely benign g.100039818A>G - TBC1D23(NM_001199198.3):c.2018+3A>G - TBC1D23_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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