All transcript variants in gene ACD

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

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

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     
-?/. - c.280G>A r.(?) p.(Val94Ile) - likely benign g.67694102C>T - ACD(NM_001082486.1):c.280G>A (p.V94I) - ACD_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.338G>A r.(?) p.(Arg113Gln) - benign g.67694044C>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
-?/. - c.338G>A r.(?) p.(Arg113Gln) - likely benign g.67694044C>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_Utrecht
+/. - c.499_501del r.(?) p.(Lys167del) - pathogenic g.67693691_67693693del - - - ACD_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.862A>G r.(?) p.(Thr288Ala) - VUS g.67692863T>C - ACD(NM_001082486.1):c.871A>G (p.T291A), ACD(NM_001082486.2):c.613A>G (p.T205A) - ACD_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.862A>G r.(?) p.(Thr288Ala) - likely benign g.67692863T>C - ACD(NM_001082486.1):c.871A>G (p.T291A), ACD(NM_001082486.2):c.613A>G (p.T205A) - ACD_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1066_1077del r.(?) p.(Pro356_Ser359del) - VUS g.67692466_67692477del - ACD(NM_001082486.1):c.1075_1086delCCCAGTTCCTCA (p.P359_S362del) - ACD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1068C>T r.(?) p.(=) - likely benign g.67692468G>A - ACD(NM_001082486.1):c.1077C>T (p.P359=) - ACD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1095C>T r.(?) p.(=) - likely benign g.67692249G>A - ACD(NM_001082486.2):c.846C>T (p.P282=) - ACD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*170G>C r.(=) p.(=) - likely benign g.67691339C>G - CARMIL2(NM_001013838.2):c.4226C>G (p.P1409R) - RLTPR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*1023G>A r.(=) p.(=) - likely benign g.67690486C>T - CARMIL2(NM_001013838.2):c.3974C>T (p.T1325I) - ACD_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*2945T>A r.(=) p.(=) - VUS g.67688564A>T - CARMIL2(NM_001013838.2):c.3551A>T (p.E1184V) - ACD_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*3165G>T r.(=) p.(=) - likely benign g.67688344C>A - CARMIL2(NM_001013838.2):c.3331C>A (p.R1111=) - ACD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*4585C>T r.(=) p.(=) - likely benign g.67686924G>A - CARMIL2(NM_001013838.2):c.2887G>A (p.A963T) - ACD_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*5779T>A r.(=) p.(=) - VUS g.67685730A>T - CARMIL2(NM_001013838.2):c.2570A>T (p.D857V) - RLTPR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.*6211G>A r.(=) p.(=) - benign g.67685298C>T - CARMIL2(NM_001013838.2):c.2314-6C>T - RLTPR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*6215A>G r.(=) p.(=) - likely benign g.67685294T>C - CARMIL2(NM_001013838.2):c.2314-10T>C - ACD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*6318G>A r.(=) p.(=) - likely benign g.67685191C>T - CARMIL2(NM_001013838.2):c.2286C>T (p.A762=) - ACD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*6318G>A r.(=) p.(=) - likely benign g.67685191C>T - CARMIL2(NM_001013838.2):c.2286C>T (p.A762=) - ACD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*8010C>A r.(=) p.(=) - likely benign g.67683499G>T - CARMIL2(NM_001013838.2):c.1896G>T (p.A632=) - ACD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*8669G>A r.(=) p.(=) - likely benign g.67682840C>T - CARMIL2(NM_001013838.2):c.1554C>T (p.D518=) - ACD_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*9656C>T r.(=) p.(=) - VUS g.67681853G>A - CARMIL2(NM_001013838.2):c.1063G>A (p.D355N) - RLTPR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*9672C>G r.(=) p.(=) - likely benign g.67681837G>C - CARMIL2(NM_001013838.2):c.1047G>C (p.A349=) - RLTPR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*9709G>A r.(=) p.(=) - likely benign g.67681800C>T - CARMIL2(NM_001013838.2):c.1010C>T (p.T337I) - ACD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.*10007G>A r.(=) p.(=) - pathogenic g.67681502C>T - - - ACD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*10065C>T r.(=) p.(=) - likely benign g.67681444G>A - CARMIL2(NM_001013838.2):c.810G>A (p.A270=) - RLTPR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.*10065C>T r.(=) p.(=) - likely benign g.67681444G>A - CARMIL2(NM_001013838.2):c.810G>A (p.A270=) - RLTPR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*10078G>A r.(=) p.(=) - VUS g.67681431C>T - CARMIL2(NM_001013838.2):c.797C>T (p.A266V) - RLTPR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.*10221C>A r.(=) p.(=) - VUS g.67681288G>T - CARMIL2(NM_001013838.2):c.774G>T (p.R258S) - ACD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*10221C>A r.(=) p.(=) - VUS g.67681288G>T - CARMIL2(NM_001013838.2):c.774G>T (p.R258S) - ACD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*10704G>A r.(=) p.(=) - likely benign g.67680805C>T - CARMIL2(NM_001013838.2):c.540C>T (p.D180=) - ACD_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*10704G>A r.(=) p.(=) - likely benign g.67680805C>T - CARMIL2(NM_001013838.2):c.540C>T (p.D180=) - ACD_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*10845G>C r.(=) p.(=) - VUS g.67680664C>G - CARMIL2(NM_001013838.2):c.514C>G (p.P172A) - RLTPR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.*11304C>T r.(=) p.(=) - likely benign g.67680205G>A - CARMIL2(NM_001013838.2):c.366G>A (p.S122=) - ACD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*11549C>T r.(=) p.(=) - likely benign g.67679960G>A - CARMIL2(NM_001013838.2):c.226G>A (p.A76T) - ACD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*11577C>A r.(=) p.(=) - likely benign g.67679932G>T - CARMIL2(NM_001013838.2):c.198G>T (p.T66=) - ACD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*12071G>C r.(=) p.(=) - likely benign g.67679438C>G - CARMIL2(NM_001013838.2):c.41-5C>G - ACD_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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