Full data view for gene TRIM32

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_012210.3 transcript reference sequence.

226 entries on 3 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.-261524T>C r.(?) p.(=) Unknown - VUS g.119188218T>C g.116425939T>C ASTN2(NM_001184734.1):c.1088A>G (p.(Tyr363Cys)) - ASTN2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-35752C>T r.(?) p.(=) Unknown - likely benign g.119413990C>T g.116651711C>T ASTN2(NM_001184734.1):c.45G>A (p.(Met15Ile)) - ASTN2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-712T>C r.(?) p.(=) Unknown - likely benign g.119449030T>C g.116686751T>C ASTN2(NM_198186.3):c.55A>G (p.(Ser19Gly)) - ASTN2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_2_ c.(?_-161)_(*1596_?)del r.0 p.0 Both (homozygous) - pathogenic g.(119770397_119802166)_(119432957_119449208)del - - - TRIM32_000036 deletion includes 3'end ASTN2 PubMed: Nectoux 2015 - - Germline - - - - - DNA arrayCGH, PCRq - - LGMD 25351777-Fam2Pat2 PubMed: Nectoux 2015 2-generation family, 1 affected, unaffected parents M - France - - - - - 1 Aleksandra Nadaj Pakleza
-/. - c.-133G>C r.(?) p.(=) Unknown - benign g.119449609G>C - - - ASTN2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-81-291A>G r.(=) p.(=) Unknown - likely benign g.119459650A>G - TRIM32(NM_001379048.1):c.-142-2A>G - ASTN2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_2_ c.(?-161)_(*1596_?)del r.0 p.0 Parent #2 - pathogenic (recessive) g.(119432957_119449208)_(119519424_119636599)del - hg19:119447866_119572263del - TRIM32_000019 deletion includes 5' end ASTN2 gene PubMed: Nectoux 2015 - - Germline/De novo (untested) - - - - - DNA arraySEQ - - LGMD 25351777-Pat1 PubMed: Nectoux 2015 3-generation family, 1 affected, unaffected parents M - France - - - - - 1 Juliette Nectoux
+/. - c.(?_-82+3795)_*1596{0} r.? p.0? Parent #2 - pathogenic (recessive) g.(?_119453455)_(119516944_?)del - - - TRIM32_000080 - PubMed: Johnson 2019, PubMed: Topf 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat36 PubMed: Johnson 2019 - F - Poland - - - - - 1 Johan den Dunnen
?/. - c.1A>G r.(?) p.(Met1?) Unknown - VUS g.119460022A>G - TRIM32(NM_012210.4):c.1A>G (p.M1?) - ASTN2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6T>G r.(?) p.(=) Unknown - likely benign g.119460027T>G - TRIM32(NM_001099679.1):c.6T>G (p.(Ala2=)) - ASTN2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6T>V r.(?) p.(Ala2=) Parent #1 - likely benign g.119460027T>V g.116697748T>V - - TRIM32_000081 - PubMed: Johnson 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat1 PubMed: Johnson 2019 - - - - - - - - - 1 Johan den Dunnen
?/. 2 c.24C>A r.(?) p.(His8Gln) Parent #1 - VUS g.119460045C>A g.116697766C>A - - TRIM32_000038 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.59G>T r.(?) p.(Cys20Phe) Both (homozygous) ACMG VUS g.119460080G>T g.116697801G>T - - TRIM32_000104 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat117 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
?/. 2 c.90G>A r.(?) p.(=) Parent #1 - VUS g.119460111G>A g.116697832G>A - - TRIM32_000039 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.90G>A r.(?) p.(=) Parent #1 - VUS g.119460111G>A g.116697832G>A - - TRIM32_000039 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.98G>A r.(?) p.(Arg33His) Parent #1 - VUS g.119460119G>A g.116697840G>A - - TRIM32_000040 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.127A>G r.(?) p.(Ile43Val) Parent #1 - VUS g.119460148A>G g.116697869A>G - - TRIM32_000041 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.201T>C r.(?) p.(Ile67=) Unknown - benign g.119460222T>C g.116697943T>C ASTN2(NM_014010.5):c.2653+27828A>G, TRIM32(NM_012210.4):c.201T>C (p.I67=) - ASTN2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.276C>T r.(?) p.(Ser92=) Unknown - VUS g.119460297C>T g.116698018C>T ASTN2(NM_014010.5):c.2653+27753G>A, TRIM32(NM_001099679.1):c.276C>T (p.(Ser92=)), TRIM32(NM_012210.3):c.276C>T (p.S92=), TRIM32(NM_012210.4):c.276C... - TRIM32_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276C>T r.(?) p.(Ser92=) Unknown - likely benign g.119460297C>T g.116698018C>T ASTN2(NM_014010.5):c.2653+27753G>A, TRIM32(NM_001099679.1):c.276C>T (p.(Ser92=)), TRIM32(NM_012210.3):c.276C>T (p.S92=), TRIM32(NM_012210.4):c.276C... - TRIM32_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.276C>T r.(?) p.(Ser92=) Unknown - VUS g.119460297C>T g.116698018C>T ASTN2(NM_014010.5):c.2653+27753G>A, TRIM32(NM_001099679.1):c.276C>T (p.(Ser92=)), TRIM32(NM_012210.3):c.276C>T (p.S92=), TRIM32(NM_012210.4):c.276C... - TRIM32_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.279G>A r.(?) p.(Glu93=) Unknown - likely benign g.119460300G>A g.116698021G>A TRIM32(NM_012210.3):c.279G>A (p.E93=) - ASTN2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.292C>A r.(?) p.(Leu98Ile) Parent #1 - VUS g.119460313C>A g.116698034C>A - - TRIM32_000042 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.314G>T r.(?) p.(Arg105Leu) Unknown - VUS g.119460335G>T g.116698056G>T NM_001099679.1:c.314G>T - ASTN2_000037 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case28865 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
?/. - c.317G>A r.(?) p.(Arg106His) Parent #1 - VUS g.119460338G>A g.116698059G>A - - TRIM32_000085 - PubMed: Johnson 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat2 PubMed: Johnson 2019 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.330A>G r.(?) p.(Gln110=) Parent #1 - likely benign g.119460351A>G g.116698072A>G - - TRIM32_000086 - PubMed: Johnson 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat3 PubMed: Johnson 2019 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.338G>A r.(?) p.(Arg113Gln) Unknown - likely benign g.119460359G>A - TRIM32(NM_001099679.1):c.338G>A (p.(Arg113Gln)) - ASTN2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.339G>C r.(?) p.(=) Unknown - VUS g.119460360G>C g.116698081G>C - - TRIM32_000013 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.370C>T r.(?) p.(Arg124Trp) Parent #1 - VUS g.119460391C>T g.116698112C>T - - TRIM32_000043 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.382C>T r.(?) p.(His128Tyr) Unknown - VUS g.119460403C>T g.116698124C>T TRIM32(NM_001099679.1):c.382C>T (p.H128Y) - TRIM32_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.388C>T r.(?) p.(Pro130Ser) Parent #1 - pathogenic g.119460409C>T g.116698130C>T - - TRIM32_000007 not in 368 control chromosomes PubMed: Chiang 2006, OMIM:var0002 - - Germline - - - - - DNA SEQ, SSCA - - BBS - PubMed: Chiang 2006, OMIM:var0002 4 affecteds (2M, 2F) - - Israel Bedouin Arab - - - - 4 Johan den Dunnen
+/. 2 c.388C>T r.(?) p.(Pro130Ser) Parent #2 - pathogenic g.119460409C>T g.116698130C>T - - TRIM32_000007 not in 368 control chromosomes PubMed: Chiang 2006, OMIM:var0002 - - Germline - - - - - DNA SEQ, SSCA - - BBS - PubMed: Chiang 2006, OMIM:var0002 4 affecteds (2M, 2F) - - Israel Bedouin Arab - - - - 4 Johan den Dunnen
+/. 2 c.388C>T r.(?) p.(Pro130Ser) Unknown - NA g.119460409C>T g.116698130C>T - - TRIM32_000007 YTH cloning in pGBKT7/pGADT7, normal homo-dimerisation, normal UBE2N binding; GFP-TRIM32 normal localization COS7 PubMed: Saccone 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.404C>T r.(?) p.(Thr135Ile) Unknown - likely benign g.119460425C>T g.116698146C>T TRIM32(NM_001099679.1):c.404C>T (p.(Thr135Ile)) - ASTN2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.404C>T r.(?) p.(Thr135Ile) Parent #1 - VUS g.119460425C>T g.116698146C>T - - ASTN2_000022 - PubMed: Johnson 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat4 PubMed: Johnson 2019 - - - - - - - - - 1 Johan den Dunnen
?/. 2 c.413T>G r.(?) p.(Val138Gly) Parent #1 - VUS g.119460434T>G g.116698155T>G - - TRIM32_000044 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.430G>A r.(?) p.(Glu144Lys) Parent #1 - VUS g.119460451G>A g.116698172G>A - - TRIM32_000045 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.459_462dup r.(?) p.(Arg155Asnfs*29) Both (homozygous) - pathogenic (recessive) g.119460480_119460483dup g.116698201_116698204dup - - TRIM32_000087 disease associated with variant in other gene PubMed: Johnson 2019, PubMed: Topf 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat5 PubMed: Johnson 2019 - M - Turkey - - - - - 1 Johan den Dunnen
?/. 2 c.464G>A r.(?) p.(Arg155His) Parent #1 - VUS g.119460485G>A g.116698206G>A - - TRIM32_000046 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.467T>C r.(?) p.Leu156Pro Both (homozygous) ACMG VUS g.119460488T>C g.116698209T>C - - TRIM32_000021 reported in Kang ; 2016. Exp 48: e251 - - rs145907585 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
?/. - c.467T>C r.(?) p.(Leu156Pro) Unknown - VUS g.119460488T>C - TRIM32(NM_012210.3):c.467T>C (p.L156P) - TRIM32_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.467T>C r.(?) p.(Leu156Pro) Unknown - likely pathogenic g.119460488T>C g.116698209T>C TRIM32/BBS11 c.467T>C, p.Leu156Pro - TRIM32_000021 single heterozygous variant in a recessive disease; no second causative allele found PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-60 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
-/. - c.479T>C r.(?) p.(Met160Thr) Unknown - benign g.119460500T>C g.116698221T>C TRIM32(NM_012210.3):c.479T>C (p.M160T) - TRIM32_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.479_480insA r.(?) p.(Met160IlefsTer23) Unknown - VUS g.119460500_119460501insA g.116698221_116698222insA TRIM32(NM_012210.3):c.479_480insA (p.(Met160IlefsTer23)) - TRIM32_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.480G>A r.(?) p.(Met160Ile) Unknown - VUS g.119460501G>A g.116698222G>A - - TRIM32_000014 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.480G>A r.(?) p.(Met160Ile) Parent #1 - VUS g.119460501G>A g.116698222G>A - - TRIM32_000014 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.480G>A r.(?) p.(Met160Ile) Parent #1 - VUS g.119460501G>A g.116698222G>A - - TRIM32_000014 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.480G>A r.(?) p.(Met160Ile) Parent #1 - VUS g.119460501G>A g.116698222G>A - - TRIM32_000014 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.480G>A r.(?) p.(Met160Ile) Parent #1 - VUS g.119460501G>A g.116698222G>A - - TRIM32_000014 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.488T>C r.(?) p.(Leu163Pro) Both (homozygous) ACMG VUS g.119460509T>C g.116698230T>C - - TRIM32_000078 ACMG grading: PM2, PP3 - - rs775940650 Germline - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
+?/. - c.488T>C r.(?) p.(Leu163Pro) Both (homozygous) - likely pathogenic (recessive) g.119460509T>C g.116698230T>C - - TRIM32_000078 - PubMed: Johnson 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat38 PubMed: Johnson 2019 - M - Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.488T>C r.(?) p.(Leu163Pro) Both (homozygous) - likely pathogenic (recessive) g.119460509T>C g.116698230T>C - - TRIM32_000078 - PubMed: Johnson 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat40 PubMed: Johnson 2019 - M - Iran Persian - - - - 1 Johan den Dunnen
?/. 2 c.496C>T r.(?) p.(Arg166Trp) Parent #1 - VUS g.119460517C>T g.116698238C>T - - TRIM32_000047 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.496C>T r.(?) p.(Arg166Trp) Unknown - VUS g.119460517C>T - - - TRIM32_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.497G>A r.(?) p.(Arg166Gln) Unknown - VUS g.119460518G>A g.116698239G>A TRIM32(NM_001099679.1):c.497G>A (p.(Arg166Gln)), TRIM32(NM_012210.3):c.497G>A (p.R166Q) - TRIM32_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.497G>A r.(?) p.(Arg166Gln) Unknown - VUS g.119460518G>A g.116698239G>A TRIM32(NM_001099679.1):c.497G>A (p.(Arg166Gln)), TRIM32(NM_012210.3):c.497G>A (p.R166Q) - TRIM32_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.497G>A r.(?) p.(Arg166Gln) Parent #1 - VUS g.119460518G>A g.116698239G>A - - TRIM32_000027 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.497G>A r.(?) p.(Arg166Gln) Parent #1 - VUS g.119460518G>A g.116698239G>A - - TRIM32_000027 - PubMed: Johnson 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat6 PubMed: Johnson 2019 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.501G>A r.(?) p.(Lys167=) Unknown - likely benign g.119460522G>A g.116698243G>A TRIM32(NM_001099679.1):c.501G>A (p.(Lys167=)), TRIM32(NM_012210.3):c.501G>A (p.K167=) - TRIM32_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.501G>A r.(?) p.(Lys167=) Unknown - likely benign g.119460522G>A - TRIM32(NM_001099679.1):c.501G>A (p.(Lys167=)), TRIM32(NM_012210.3):c.501G>A (p.K167=) - TRIM32_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.509T>A r.(?) p.(Leu170*) Both (homozygous) - pathogenic g.119460530T>A g.116698251T>A - - TRIM32_000048 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-?/. - c.521C>T r.(?) p.(Ser174Phe) Unknown - likely benign g.119460542C>T g.116698263C>T TRIM32(NM_012210.3):c.521C>T (p.S174F), TRIM32(NM_012210.4):c.521C>T (p.S174F) - TRIM32_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.521C>T r.(?) p.(Ser174Phe) Parent #1 - VUS g.119460542C>T g.116698263C>T - - TRIM32_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.521C>T r.(?) p.(Ser174Phe) Unknown - VUS g.119460542C>T g.116698263C>T TRIM32(NM_012210.3):c.521C>T (p.S174F), TRIM32(NM_012210.4):c.521C>T (p.S174F) - TRIM32_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.521C>T r.(?) p.(Ser174Phe) Parent #1 - VUS g.119460542C>T g.116698263C>T - - TRIM32_000029 - PubMed: Johnson 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat7 PubMed: Johnson 2019 - - - - - - - - - 1 Johan den Dunnen
?/. - c.521C>T r.(?) p.(Ser174Phe) Parent #1 - VUS g.119460542C>T g.116698263C>T - - TRIM32_000029 - PubMed: Johnson 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat8 PubMed: Johnson 2019 - - - - - - - - - 1 Johan den Dunnen
?/. - c.521C>T r.(?) p.(Ser174Phe) Parent #1 - VUS g.119460542C>T g.116698263C>T - - TRIM32_000029 - PubMed: Johnson 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat9 PubMed: Johnson 2019 - - - - - - - - - 1 Johan den Dunnen
?/. 2 c.524A>G r.(?) p.(Lys175Arg) Parent #1 - VUS g.119460545A>G g.116698266A>G - - TRIM32_000049 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.542_543insAAAGGTA r.(?) p.(Tyr181*) Unknown - pathogenic g.119460563_119460564insAAAGGTA - TRIM32(NM_012210.3):c.542_543insAAAGGTA (p.Y181*) - ASTN2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.558G>C r.(?) p.(Gln186His) Unknown - VUS g.119460579G>C g.116698300G>C ASTN2(NM_014010.5):c.2653+27471C>G, TRIM32(NM_001099679.1):c.558G>C (p.Q186H, p.(Gln186His)), TRIM32(NM_012210.3):c.558G>C (p.Q186H), TRIM32(NM_01...) - TRIM32_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.558G>C r.(?) p.(Gln186His) Parent #1 - VUS g.119460579G>C g.116698300G>C - - TRIM32_000030 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.558G>C r.(?) p.(Gln186His) Parent #1 - VUS g.119460579G>C g.116698300G>C - - TRIM32_000030 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.558G>C r.(?) p.(Gln186His) Parent #1 - VUS g.119460579G>C g.116698300G>C - - TRIM32_000030 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.558G>C r.(?) p.(Gln186His) Parent #1 - VUS g.119460579G>C g.116698300G>C - - TRIM32_000030 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.558G>C r.(?) p.(Gln186His) Parent #1 - VUS g.119460579G>C g.116698300G>C - - TRIM32_000030 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.558G>C r.(?) p.(Gln186His) Parent #1 - VUS g.119460579G>C g.116698300G>C - - TRIM32_000030 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.558G>C r.(?) p.(Gln186His) Parent #1 - VUS g.119460579G>C g.116698300G>C - - TRIM32_000030 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.558G>C r.(?) p.(Gln186His) Parent #1 - VUS g.119460579G>C g.116698300G>C - - TRIM32_000030 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.558G>C r.(?) p.(Gln186His) Unknown - VUS g.119460579G>C g.116698300G>C ASTN2(NM_014010.5):c.2653+27471C>G, TRIM32(NM_001099679.1):c.558G>C (p.Q186H, p.(Gln186His)), TRIM32(NM_012210.3):c.558G>C (p.Q186H), TRIM32(NM_01...) - TRIM32_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.558G>C r.(?) p.(Gln186His) Unknown - VUS g.119460579G>C g.116698300G>C ASTN2(NM_014010.5):c.2653+27471C>G, TRIM32(NM_001099679.1):c.558G>C (p.Q186H, p.(Gln186His)), TRIM32(NM_012210.3):c.558G>C (p.Q186H), TRIM32(NM_01...) - TRIM32_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.558G>C r.(?) p.(Gln186His) Unknown - likely benign g.119460579G>C g.116698300G>C ASTN2(NM_014010.5):c.2653+27471C>G, TRIM32(NM_001099679.1):c.558G>C (p.Q186H, p.(Gln186His)), TRIM32(NM_012210.3):c.558G>C (p.Q186H), TRIM32(NM_01...) - TRIM32_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.558G>C r.(?) p.(Gln186His) Parent #1 - VUS g.119460579G>C g.116698300G>C - - TRIM32_000030 - PubMed: Johnson 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat11 PubMed: Johnson 2019 - - - - - - - - - 1 Johan den Dunnen
?/. - c.558G>C r.(?) p.(Gln186His) Parent #1 - VUS g.119460579G>C g.116698300G>C - - TRIM32_000030 - PubMed: Johnson 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat12 PubMed: Johnson 2019 - - - - - - - - - 1 Johan den Dunnen
?/. - c.558G>C r.(?) p.(Gln186His) Parent #1 - VUS g.119460579G>C g.116698300G>C - - TRIM32_000030 - PubMed: Johnson 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat13 PubMed: Johnson 2019 - - - - - - - - - 1 Johan den Dunnen
?/. - c.558G>C r.(?) p.(Gln186His) Both (homozygous) - VUS g.119460579G>C g.116698300G>C - - TRIM32_000030 disease associated with variant in CAPN3 (homozygous) PubMed: Johnson 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat10 PubMed: Johnson 2019 - - - - - - - - - 1 Johan den Dunnen
?/. - c.558G>C r.(?) p.(Gln186His) Unknown - VUS g.119460579G>C g.116698300G>C NM_001099679.1:c.558G>C - TRIM32_000030 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71762 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+/. - c.574dup r.(?) p.(Glu192Glyfs*7) Parent #1 - pathogenic (recessive) g.119460595dup g.116698316dup - - TRIM32_000088 - PubMed: Johnson 2019, PubMed: Topf 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat14 PubMed: Johnson 2019 - F - Belgium - - - - - 1 Johan den Dunnen
+/. - c.574dup r.(?) p.(Glu192Glyfs*7) Parent #1 - pathogenic (recessive) g.119460595dup g.116698316dup - - TRIM32_000088 - PubMed: Johnson 2019, PubMed: Topf 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat15 PubMed: Johnson 2019 - F - Belgium - - - - - 1 Johan den Dunnen
?/. - c.607C>T r.(?) p.(Arg203Trp) Unknown - VUS g.119460628C>T - TRIM32(NM_001099679.1):c.607C>T (p.(Arg203Trp)) - ASTN2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5i c.627+18T>G r.(?) p.(=) Unknown - benign g.119460666T>G - - - TRIM32_000015 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.650A>G r.(?) p.(Asn217Ser) Parent #1 - VUS g.119460671A>G g.116698392A>G - - TRIM32_000050 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-/. 6 c.651T>C r.(?) p.(=) Unknown - benign g.119460672T>C g.116698393T>C - - TRIM32_000016 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.688A>G r.(?) p.(Ile230Val) Unknown - VUS g.119460709A>G - TRIM32(NM_012210.3):c.688A>G (p.I230V) - ASTN2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.691del r.(?) p.(Ala231Glnfs*21) Parent #1 - pathogenic g.119460712del g.116698433del 691delG - TRIM32_000051 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.691del r.(?) p.(Ala231Glnfs*21) Parent #1 - pathogenic (recessive) g.119460712del g.116698433del - - TRIM32_000051 - PubMed: Johnson 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat37 PubMed: Johnson 2019 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 2 c.700C>A r.(?) p.(Gln234Lys) Parent #1 - VUS g.119460721C>A g.116698442C>A - - TRIM32_000052 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.712C>T r.(?) p.(Arg238Cys) Both (homozygous) - VUS g.119460733C>T g.116698454C>T - - TRIM32_000089 disease associated with variant in other gene PubMed: Johnson 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat5 PubMed: Johnson 2019 - M - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.712C>T r.(?) p.(Arg238Cys) Unknown - likely pathogenic g.119460733C>T g.116698454C>T - - TRIM32_000089 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
+?/. - c.722A>G r.(?) p.(Tyr241Cys) Both (homozygous) - likely pathogenic g.119460743A>G - c.722A>G - TRIM32_000101 - PubMed: Sathya Priya-2015 - - Germline yes - - - - DNA, RNA arraySNP, PCR blood - retinal disease - PubMed: Sathya Priya-2015 - - - - - - - - - 1 LOVD
?/. - c.743A>C r.(?) p.(Gln248Pro) Unknown - VUS g.119460764A>C - TRIM32(NM_012210.3):c.743A>C (p.(Gln248Pro)) - ASTN2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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