Unique variants in the ZNHIT3 gene

Information The variants shown are described using the NM_004773.3 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+?/. 1 - c.41G>T r.(?) p.(Cys14Phe) - likely pathogenic (recessive) g.34842584G>T g.36486740G>T - - ZNHIT3_000002 - PubMed: Õunap 2020, Journal: Õunap 2020 - - Germline - - - - - Sander Pajusalu
+/. 1 - c.92C>T r.(?) p.(Ser31Leu) - pathogenic (recessive) g.34842784C>T g.36486940C>T - - ZNHIT3_000003 - PubMed: Õunap 2020, Journal: Õunap 2020 - - Germline - - - - - Sander Pajusalu
?/. 1 - c.258_259del r.(?) p.(Arg86SerfsTer67) - VUS g.34849822_34849823del g.36493978_36493979del ZNHIT3(NM_001281432.1):c.258_259delAG (p.R86Sfs*104) - ZNHIT3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3699A>G r.(=) p.(=) - likely benign g.34854947A>G g.36499103A>G MYO19(NM_001163735.1):c.2435T>C (p.M812T) - MYO19_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*5761G>T r.(=) p.(=) - VUS g.34857009G>T g.36501169G>T MYO19(NM_001163735.1):c.2147C>A (p.A716D) - MYO19_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*7706G>A r.(=) p.(=) - VUS g.34858954G>A g.36503114G>A MYO19(NM_001163735.1):c.2063C>T (p.(Pro688Leu)) - MYO19_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*7767G>A r.(=) p.(=) - VUS g.34859015G>A g.36503175G>A MYO19(NM_001163735.1):c.2002C>T (p.L668F) - MYO19_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*11684C>T r.(=) p.(=) - VUS g.34862932C>T g.36507093C>T MYO19(NM_001163735.1):c.1514G>A (p.G505D) - MYO19_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*15338G>T r.(=) p.(=) - likely benign g.34866586G>T g.36510747G>T MYO19(NM_001163735.1):c.1156C>A (p.P386T) - MYO19_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*42310T>G r.(=) p.(=) - VUS g.34893558T>G - PIGW(NM_178517.4):c.608T>G (p.L203W) - MYO19_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.*42319_*42322del r.(=) p.(=) - VUS g.34893567_34893570del g.36537718_36537721del PIGW(NM_178517.4):c.617_620delTTTG (p.V206Gfs*3) - MYO19_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*42770A>G r.(=) p.(=) - likely benign g.34894018A>G g.36538169A>G PIGW(NM_178517.4):c.1068A>G (p.V356=) - MYO19_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*42834G>C r.(=) p.(=) - likely benign g.34894082G>C - PIGW(NM_178517.4):c.1132G>C (p.V378L) - MYO19_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*42943T>C r.(=) p.(=) - VUS g.34894191T>C g.36538342T>C PIGW(NM_178517.3):c.1241T>C (p.(Ile414Thr)) - PIGW_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*43112C>T r.(=) p.(=) - likely benign g.34894360C>T g.36538511C>T PIGW(NM_178517.4):c.1410C>T (p.H470=) - MYO19_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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