Unique variants in gene ACD

Information The variants shown are described using the NM_022914.2 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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.280G>A r.(?) p.(Val94Ile) - likely benign g.67694102C>T g.67660199C>T ACD(NM_001082486.1):c.280G>A (p.V94I) - ACD_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 2 - c.338G>A r.(?) p.(Arg113Gln) - benign, likely benign g.67694044C>T g.67660141C>T ACD(NM_001082486.1):c.338G>A (p.R113Q), ACD(NM_001082486.2):c.80G>A (p.R27Q) - ACD_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 - c.499_501del r.(?) p.(Lys167del) - pathogenic g.67693691_67693693del g.67659788_67659790del - - ACD_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.862A>G r.(?) p.(Thr288Ala) - likely benign, VUS g.67692863T>C g.67658960T>C ACD(NM_001082486.2):c.613A>G (p.T205A) - ACD_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
?/. 1 - c.1066_1077del r.(?) p.(Pro356_Ser359del) - VUS g.67692466_67692477del g.67658563_67658574del ACD(NM_001082486.2):c.817_828delCCCAGTTCCTCA (p.P273_S276del) - ACD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1068C>T r.(?) p.(Pro356=) - likely benign g.67692468G>A g.67658565G>A ACD(NM_001082486.1):c.1077C>T (p.P359=) - ACD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1095C>T r.(?) p.(Pro365=) - likely benign g.67692249G>A g.67658346G>A ACD(NM_001082486.2):c.846C>T (p.P282=) - ACD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/., -?/. 2 - c.*170G>C r.(=) p.(=) - likely benign g.67691339C>G g.67657436C>G CARMIL2(NM_001013838.2):c.4226C>G (p.P1409R) - RLTPR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
-?/. 1 - c.*1023G>A r.(=) p.(=) - likely benign g.67690486C>T g.67656583C>T CARMIL2(NM_001013838.2):c.3974C>T (p.T1325I) - ACD_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*2945T>A r.(=) p.(=) - VUS g.67688564A>T g.67654661A>T CARMIL2(NM_001013838.2):c.3551A>T (p.E1184V) - ACD_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3165G>T r.(=) p.(=) - likely benign g.67688344C>A g.67654441C>A CARMIL2(NM_001013838.2):c.3331C>A (p.R1111=) - ACD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*3392T>G r.(=) p.(=) - - g.67688117A>C - CARMIL2(NM_001013838.2):c.3186A>C (p.E1062D) - ACD_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*4585C>T r.(=) p.(=) - likely benign g.67686924G>A g.67653021G>A CARMIL2(NM_001013838.2):c.2887G>A (p.A963T) - ACD_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.*5265A>G r.(=) p.(=) - - g.67686244T>C - - - ACD_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.*5779T>A r.(=) p.(=) - VUS g.67685730A>T g.67651827A>T CARMIL2(NM_001013838.2):c.2570A>T (p.D857V) - RLTPR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*6211G>A r.(=) p.(=) - benign g.67685298C>T g.67651395C>T CARMIL2(NM_001013838.2):c.2314-6C>T - RLTPR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*6215A>G r.(=) p.(=) - likely benign g.67685294T>C g.67651391T>C CARMIL2(NM_001013838.2):c.2314-10T>C - ACD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.*6318G>A r.(=) p.(=) - likely benign g.67685191C>T g.67651288C>T CARMIL2(NM_001013838.2):c.2286C>T (p.A762=) - ACD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.*8010C>A r.(=) p.(=) - likely benign g.67683499G>T g.67649596G>T CARMIL2(NM_001013838.2):c.1896G>T (p.A632=) - ACD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*8669G>A r.(=) p.(=) - likely benign g.67682840C>T g.67648937C>T CARMIL2(NM_001013838.2):c.1554C>T (p.D518=) - ACD_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.*9656C>T r.(=) p.(=) - VUS g.67681853G>A g.67647950G>A CARMIL2(NM_001013838.2):c.1063G>A (p.D355N) - RLTPR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*9672C>G r.(=) p.(=) - likely benign g.67681837G>C g.67647934G>C CARMIL2(NM_001013838.2):c.1047G>C (p.A349=) - RLTPR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*9709G>A r.(=) p.(=) - likely benign g.67681800C>T g.67647897C>T CARMIL2(NM_001013838.2):c.1010C>T (p.T337I) - ACD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.*10007G>A r.(=) p.(=) - pathogenic g.67681502C>T g.67647599C>T - - ACD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.*10065C>T r.(=) p.(=) - likely benign g.67681444G>A g.67647541G>A CARMIL2(NM_001013838.2):c.810G>A (p.A270=) - RLTPR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.*10078G>A r.(=) p.(=) - VUS g.67681431C>T g.67647528C>T CARMIL2(NM_001013838.2):c.797C>T (p.A266V) - RLTPR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.*10221C>A r.(=) p.(=) - VUS g.67681288G>T g.67647385G>T CARMIL2(NM_001013838.2):c.774G>T (p.R258S) - ACD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
-?/. 2 - c.*10704G>A r.(=) p.(=) - likely benign g.67680805C>T g.67646902C>T CARMIL2(NM_001013838.2):c.540C>T (p.D180=) - ACD_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.*10845G>C r.(=) p.(=) - VUS g.67680664C>G g.67646761C>G CARMIL2(NM_001013838.2):c.514C>G (p.P172A) - RLTPR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*11304C>T r.(=) p.(=) - likely benign g.67680205G>A g.67646302G>A CARMIL2(NM_001013838.2):c.366G>A (p.S122=) - ACD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*11549C>T r.(=) p.(=) - likely benign g.67679960G>A g.67646057G>A CARMIL2(NM_001013838.2):c.226G>A (p.A76T) - ACD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*11577C>A r.(=) p.(=) - likely benign g.67679932G>T g.67646029G>T CARMIL2(NM_001013838.2):c.198G>T (p.T66=) - ACD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*12071G>C r.(=) p.(=) - likely benign g.67679438C>G g.67645535C>G CARMIL2(NM_001013838.2):c.41-5C>G - ACD_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.*12332A>C r.(=) p.(=) - - g.67679177T>G - CARMIL2(NM_001013838.2):c.28T>G (p.C10G) - ACD_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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