Unique variants in the AMELX gene

Information The variants shown are described using the NM_182680.1 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.-154447C>A r.(?) p.(=) - likely benign g.11157154C>A g.11139034C>A ARHGAP6(NM_006125.2):c.*4824G>T (p.(=)) - ARHGAP6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-154443C>T r.(?) p.(=) - VUS g.11157158C>T g.11139038C>T ARHGAP6(NM_006125.2):c.*4820G>A (p.(=)) - ARHGAP6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-154391G>A r.(?) p.(=) - likely benign g.11157210G>A g.11139090G>A ARHGAP6(NM_013427.2):c.2698C>T (p.P900S) - ARHGAP6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-154195C>T r.(?) p.(=) - likely benign g.11157406C>T g.11139286C>T ARHGAP6(NM_013427.2):c.2502G>A (p.T834=) - ARHGAP6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-151182G>T r.(?) p.(=) - likely benign g.11160419G>T g.11142299G>T ARHGAP6(NM_006125.2):c.*1559C>A (p.(=)) - ARHGAP6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-151168T>A r.(?) p.(=) - VUS g.11160433T>A g.11142313T>A ARHGAP6(NM_013423.2):c.1568A>T (p.?) - ARHGAP6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.-123906C>T r.(?) p.(=) - VUS g.11187695C>T g.11169575C>T ARHGAP6(NM_006125.2):c.1739G>A (p.(Arg580Gln)), ARHGAP6(NM_013427.2):c.1739G>A (p.R580Q) - ARHGAP6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.-115352C>T r.(?) p.(=) - likely benign g.11196249C>T g.11178129C>T ARHGAP6(NM_006125.2):c.1600G>A (p.(Asp534Asn)) - ARHGAP6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-114154C>T r.(?) p.(=) - likely benign g.11197447C>T - ARHGAP6(NM_013427.2):c.1455G>A (p.L485=) - ARHGAP6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-114054A>G r.(?) p.(=) - VUS g.11197547A>G g.11179427A>G ARHGAP6(NM_013427.2):c.1355T>C (p.I452T) - ARHGAP6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-104711C>T r.(?) p.(=) - likely benign g.11206890C>T - ARHGAP6(NM_013427.2):c.1035G>A (p.T345=) - ARHGAP6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-104710G>A r.(?) p.(=) - VUS g.11206891G>A g.11188771G>A ARHGAP6(NM_006125.2):c.1034C>T (p.(Thr345Met)) - ARHGAP6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-104625G>T r.(?) p.(=) - VUS g.11206976G>T g.11188856G>T ARHGAP6(NM_013427.2):c.949C>A (p.P317T) - ARHGAP6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-104586C>T r.(?) p.(=) - VUS g.11207015C>T g.11188895C>T ARHGAP6(NM_006125.2):c.910G>A (p.(Glu304Lys)) - ARHGAP6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-104573G>A r.(?) p.(=) - likely benign g.11207028G>A - ARHGAP6(NM_013427.2):c.897C>T (p.D299=) - ARHGAP6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.54+65T>C r.(=) p.(=) - VUS g.11313027T>C g.11294907T>C - - AMELX_000001, ARHGAP6_000009 - - - - Germline - - - - - Yu Sun
+?/. 1 - c.143T>C r.(?) p.(Leu48Ser) - likely pathogenic (!) g.11316263T>C g.11298143T>C - - AMELX_000002 mini-gene splicing assay shows 100% inclusion of usually alternatively spliced exon 4 PubMed: Kim 2020 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.155C>T r.(?) p.(Pro52Leu) - pathogenic (dominant) g.11316366C>T g.11298246C>T NM_001142.2:c.155C>T (P52L) - AMELX_000003 - PubMed: Prasad 2016 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.213G>A r.(?) p.(Met71Ile) - VUS g.11316694G>A g.11298574G>A AMELX(NM_182680.1):c.213G>A (p.M71I) - ARHGAP6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.227A>G r.(?) p.(His76Arg) - VUS g.11316708A>G g.11298588A>G - - ARHGAP6_000035 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.261C>T r.(=) p.(=) - likely benign g.11316742C>T g.11298622C>T H87H - ARHGAP6_000036 recurrent, found 30 times PubMed: Tarpey 2009 - - Germline - 30/208 cases - - - Lucy Raymond
-?/. 1 - c.408C>T r.(?) p.(Pro136=) - likely benign g.11316889C>T - AMELX(NM_182680.1):c.408C>T (p.P136=) - ARHGAP6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.457C>G r.(?) p.(Pro153Ala) - VUS g.11316938C>G - AMELX(NM_182680.1):c.457C>G (p.P153A) - ARHGAP6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.473del r.(?) p.(Pro158HisfsTer31) - VUS g.11316954del g.11298834del AMELX(NM_182680.1):c.472del (p.?) - ARHGAP6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.478G>T r.(?) p.(Val160Leu) - benign g.11316959G>T g.11298839G>T AMELX(NM_182680.1):c.478G>T (p.V160L) - ARHGAP6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.536A>G r.(?) p.(Gln179Arg) - VUS g.11317017A>G g.11298897A>G AMELX(NM_182680.1):c.536A>G (p.Q179R) - ARHGAP6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.581C>A r.(?) p.(Pro194Gln) - likely benign g.11317062C>A g.11298942C>A AMELX(NM_001142.2):c.539C>A (p.(Pro180Gln)) - ARHGAP6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.613-5T>C r.spl? p.? - likely benign g.11318722T>C g.11300602T>C AMELX(NM_182680.1):c.613-5T>C - ARHGAP6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*363738C>A r.(=) p.(=) - likely benign g.11682470C>A g.11664350C>A ARHGAP6(NM_013427.2):c.479G>T (p.G160V) - ARHGAP6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*363888T>C r.(=) p.(=) - VUS g.11682620T>C g.11664500T>C ARHGAP6(NM_006125.2):c.329A>G (p.(Gln110Arg)) - ARHGAP6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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