Full data view for gene KAT5

Information The variants shown are described using the NM_006388.3 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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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.-1926C>T r.(?) p.(=) Unknown - likely benign g.65477813C>T - KAT5(NM_182710.3):c.-1926C>T - KAT5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-9G>A r.(?) p.(=) Unknown - likely benign g.65479730G>A - KAT5(NM_182710.2):c.-9G>A (p.?) - KAT5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.157C>T r.(?) p.(Arg53Cys) Unknown ACMG likely pathogenic g.65480401C>T g.65712930C>T - - KAT5_000020 - - ClinVar-3895531 - De novo - - - - - DNA SEQ-NG-I peripheral blood WES ? - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. - c.158G>A r.(?) p.(Arg53His) Unknown - pathogenic (dominant) g.65480402G>A - - - KAT5_000009 - Journal: Humbert 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 Journal: Humbert 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - white - - - - 1 Johan den Dunnen
?/. - c.307G>A r.(?) p.(Gly103Arg) Unknown - VUS g.65480840G>A - KAT5(NM_006388.4):c.307G>A (p.G103R) - KAT5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.343C>T r.(?) p.(Arg115Cys) Unknown - VUS g.65480876C>T - KAT5(NM_006388.4):c.343C>T (p.R115C) - KAT5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.437C>T r.(?) p.(Ser146Leu) Unknown - VUS g.65480970C>T - KAT5(NM_182710.2):c.536C>T (p.(Ser179Leu)) - KAT5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1018G>A r.(?) p.(Val340Ile) Unknown - likely benign g.65484225G>A - KAT5(NM_182710.2):c.1117G>A (p.(Val373Ile)) - KAT5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1105T>A r.(?) p.(Cys369Ser) Unknown - pathogenic (dominant) g.65484393T>A - - - KAT5_000010 - Journal: Humbert 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 Journal: Humbert 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - white - - - - 1 Johan den Dunnen
+/. - c.1237T>G r.(?) p.(Ser413Ala) Unknown - pathogenic (dominant) g.65486132T>G - - - KAT5_000011 - Journal: Humbert 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 Journal: Humbert 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States African-American - - - - 1 Johan den Dunnen
-?/. - c.*633A>G r.(=) p.(=) Unknown - likely benign g.65487285A>G g.65719814A>G RNASEH2C(NM_032193.3):c.469-5T>C - RNASEH2C_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*851C>T r.(=) p.(=) Unknown - likely benign g.65487503C>T g.65720032C>T RNASEH2C(NM_032193.3):c.468+13G>A - KAT5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*851C>T r.(=) p.(=) Unknown - likely benign g.65487503C>T g.65720032C>T RNASEH2C(NM_032193.3):c.468+13G>A - KAT5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*856C>G r.(=) p.(=) Unknown - likely benign g.65487508C>G g.65720037C>G RNASEH2C(NM_032193.3):c.468+8G>C - KAT5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*856C>T r.(=) p.(=) Unknown - likely benign g.65487508C>T - RNASEH2C(NM_032193.3):c.468+8G>A - KAT5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*859C>T r.(=) p.(=) Unknown - VUS g.65487511C>T g.65720040C>T RNASEH2C(NM_032193.3):c.468+5G>A - KAT5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*864C>A r.(=) p.(=) Unknown - likely benign g.65487516C>A g.65720045C>A RNASEH2C(NM_032193.3):c.468G>T (p.A156=, p.(Ala156=)), RNASEH2C(NM_032193.4):c.468G>T (p.A156=) - RNASEH2C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*864C>A r.(=) p.(=) Unknown - likely benign g.65487516C>A g.65720045C>A RNASEH2C(NM_032193.3):c.468G>T (p.A156=, p.(Ala156=)), RNASEH2C(NM_032193.4):c.468G>T (p.A156=) - RNASEH2C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*864C>A r.(=) p.(=) Unknown - likely benign g.65487516C>A g.65720045C>A RNASEH2C(NM_032193.3):c.468G>T (p.A156=, p.(Ala156=)), RNASEH2C(NM_032193.4):c.468G>T (p.A156=) - RNASEH2C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*864C>A r.(=) p.(=) Unknown - likely benign g.65487516C>A g.65720045C>A RNASEH2C(NM_032193.3):c.468G>T (p.A156=, p.(Ala156=)), RNASEH2C(NM_032193.4):c.468G>T (p.A156=) - RNASEH2C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*915G>C r.(=) p.(=) Unknown - likely benign g.65487567G>C g.65720096G>C RNASEH2C(NM_032193.3):c.417C>G (p.G139=), RNASEH2C(NM_032193.4):c.417C>G (p.G139=) - RNASEH2C_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*915G>C r.(=) p.(=) Unknown - likely benign g.65487567G>C g.65720096G>C RNASEH2C(NM_032193.3):c.417C>G (p.G139=), RNASEH2C(NM_032193.4):c.417C>G (p.G139=) - RNASEH2C_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*974T>C r.(=) p.(=) Unknown - likely benign g.65487626T>C g.65720155T>C RNASEH2C(NM_032193.3):c.358A>G (p.I120V), RNASEH2C(NM_032193.4):c.358A>G (p.(Ile120Val)) - RNASEH2C_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*974T>C r.(=) p.(=) Unknown - likely benign g.65487626T>C - RNASEH2C(NM_032193.3):c.358A>G (p.I120V), RNASEH2C(NM_032193.4):c.358A>G (p.(Ile120Val)) - RNASEH2C_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*974T>C r.(=) p.(=) Unknown - VUS g.65487626T>C - RNASEH2C(NM_032193.3):c.358A>G (p.I120V), RNASEH2C(NM_032193.4):c.358A>G (p.(Ile120Val)) - RNASEH2C_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1055G>A r.(=) p.(=) Unknown - VUS g.65487707G>A - RNASEH2C(NM_032193.3):c.348+6C>T (p.?) - KAT5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1085_*1087del r.(=) p.(=) Unknown - VUS g.65487737_65487739del - RNASEH2C(NM_032193.3):c.328_330delGAG (p.E110del) - KAT5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1103G>A r.(=) p.(=) Unknown - likely benign g.65487755G>A g.65720284G>A RNASEH2C(NM_032193.3):c.306C>T (p.S102=) - KAT5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1117G>A r.(=) p.(=) Unknown - VUS g.65487769G>A - RNASEH2C(NM_032193.4):c.292C>T (p.P98S) - KAT5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1117G>C r.(=) p.(=) Unknown - VUS g.65487769G>C g.65720298G>C RNASEH2C(NM_032193.3):c.292C>G (p.P98A), RNASEH2C(NM_032193.4):c.292C>G (p.P98A) - RNASEH2C_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1117G>C r.(=) p.(=) Unknown - VUS g.65487769G>C - RNASEH2C(NM_032193.3):c.292C>G (p.P98A), RNASEH2C(NM_032193.4):c.292C>G (p.P98A) - RNASEH2C_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1144_*1146del r.(=) p.(=) Unknown - VUS g.65487796_65487798del g.65720325_65720327del RNASEH2C(NM_032193.3):c.268_270delAAG (p.K90del) - RNASEH2C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1144_*1146del r.(=) p.(=) Unknown - benign g.65487796_65487798del g.65720325_65720327del RNASEH2C(NM_032193.3):c.268_270delAAG (p.K90del) - RNASEH2C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1174G>C r.(=) p.(=) Unknown - likely benign g.65487826G>C - RNASEH2C(NM_032193.3):c.235C>G (p.L79V) - KAT5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1231C>T r.(=) p.(=) Unknown - likely benign g.65487883C>T g.65720412C>T RNASEH2C(NM_032193.3):c.178G>A (p.E60K) - RNASEH2C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1251G>A r.(=) p.(=) Unknown - likely benign g.65487903G>A g.65720432G>A RNASEH2C(NM_032193.3):c.173-15C>T - RNASEH2C_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1449C>T r.(=) p.(=) Unknown - likely benign g.65488101C>T - RNASEH2C(NM_032193.3):c.129G>A (p.P43=) - KAT5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1490G>A r.(=) p.(=) Unknown - VUS g.65488142G>A g.65720671G>A RNASEH2C(NM_032193.3):c.88C>T (p.H30Y) - KAT5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1509G>A r.(=) p.(=) Unknown - likely benign g.65488161G>A g.65720690G>A RNASEH2C(NM_032193.3):c.69C>T (p.D23=) - KAT5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1517A>G r.(=) p.(=) Unknown - likely benign g.65488169A>G g.65720698A>G RNASEH2C(NM_032193.3):c.61T>C (p.L21=) - RNASEH2C_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1528C>G r.(=) p.(=) Unknown - VUS g.65488180C>G g.65720709C>G RNASEH2C(NM_032193.4):c.50G>C (p.R17P) - KAT5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1547T>C r.(=) p.(=) Unknown - likely benign g.65488199T>C - RNASEH2C(NM_032193.3):c.31A>G (p.R11G) - KAT5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1587T>C r.(=) p.(=) Unknown - likely benign g.65488239T>C g.65720768T>C RNASEH2C(NM_032193.3):c.-10A>G, RNASEH2C(NM_032193.4):c.-10A>G - RNASEH2C_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1587T>C r.(=) p.(=) Unknown - likely benign g.65488239T>C g.65720768T>C RNASEH2C(NM_032193.3):c.-10A>G, RNASEH2C(NM_032193.4):c.-10A>G - RNASEH2C_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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