Full data view for gene ACD

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

32 entries on 1 page. Showing entries 1 - 32.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-3541G>A likely benign r.(?) p.(=) Unknown g.67697922C>T - ENKD1(NM_032140.1):c.497G>A (p.(Arg166Gln)) - ACD_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2799G>A likely benign r.(?) p.(=) Unknown g.67697180C>T - ENKD1(NM_032140.1):c.925G>A (p.(Ala309Thr)) - ACD_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1913C>T VUS r.(?) p.(=) Unknown g.67696294G>A - PARD6A(NM_001037281.1):c.782G>A (p.(Arg261His), p.(Arg262His)) - PARD6A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.175G>A likely benign r.(?) p.(Glu59Lys) Unknown g.67694207C>T - ACD(NM_001082486.1):c.175G>A (p.(Glu59Lys)) - ACD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.338G>A benign r.(?) p.(Arg113Gln) Unknown g.67694044C>T - ACD(NM_001082486.1):c.338G>A (p.R113Q) - ACD_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.499_501del pathogenic r.(?) p.(Lys167del) Unknown g.67693691_67693693del - ACD():c.508_510del (p.(Lys170del)) - ACD_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.862A>G VUS r.(?) p.(Thr288Ala) Unknown g.67692863T>C - ACD(NM_001082486.1):c.871A>G (p.T291A) - ACD_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1066_1077del VUS r.(?) p.(Pro356_Ser359del) Unknown g.67692466_67692477del - ACD(NM_001082486.1):c.1075_1086delCCCAGTTCCTCA (p.P359_S362del) - ACD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1068C>T likely benign r.(?) p.(=) Unknown g.67692468G>A - ACD(NM_001082486.1):c.1077C>T (p.P359=) - ACD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1095C>T likely benign r.(?) p.(=) Unknown g.67692249G>A - ACD(NM_001082486.1):c.1104C>T (p.P368=) - ACD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1430G>A likely benign r.(?) p.(Gly477Glu) Unknown g.67691914C>T - ACD(NM_001082486.1):c.1439G>A (p.(Gly480Glu), p.(Gly477Glu)) - ACD_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*170G>C likely benign r.(=) p.(=) Unknown g.67691339C>G - CARMIL2(NM_001013838.1):c.4226C>G (p.P1409R) - RLTPR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*1023G>A likely benign r.(=) p.(=) Unknown g.67690486C>T - CARMIL2(NM_001013838.1):c.3974C>T (p.T1325I) - ACD_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2945T>A VUS r.(=) p.(=) Unknown g.67688564A>T - CARMIL2(NM_001013838.1):c.3551A>T (p.E1184V) - ACD_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3165G>T likely benign r.(=) p.(=) Unknown g.67688344C>A - CARMIL2(NM_001013838.1):c.3331C>A (p.R1111=) - ACD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4585C>T likely benign r.(=) p.(=) Unknown g.67686924G>A - CARMIL2(NM_001013838.2):c.2887G>A (p.A963T) - ACD_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5779T>A VUS r.(=) p.(=) Unknown g.67685730A>T - CARMIL2(NM_001013838.1):c.2570A>T (p.D857V) - RLTPR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*6211G>A benign r.(=) p.(=) Unknown g.67685298C>T - CARMIL2(NM_001013838.1):c.2314-6C>T - RLTPR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*6318G>A likely benign r.(=) p.(=) Unknown g.67685191C>T - CARMIL2(NM_001013838.2):c.2286C>T (p.A762=) - ACD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6318G>A likely benign r.(=) p.(=) Unknown g.67685191C>T - CARMIL2(NM_001013838.2):c.2286C>T (p.A762=) - ACD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8010C>A likely benign r.(=) p.(=) Unknown g.67683499G>T - CARMIL2(NM_001013838.2):c.1896G>T (p.A632=) - ACD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9656C>T VUS r.(=) p.(=) Unknown g.67681853G>A - CARMIL2(NM_001013838.1):c.1063G>A (p.D355N) - RLTPR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*9672C>G likely benign r.(=) p.(=) Unknown g.67681837G>C - CARMIL2(NM_001013838.1):c.1047G>C (p.A349=) - RLTPR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.*10007G>A pathogenic r.(=) p.(=) Unknown g.67681502C>T - RLTPR(NM_001013838.2):c.868C>T (p.Arg290*) - ACD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*10065C>T likely benign r.(=) p.(=) Unknown g.67681444G>A - CARMIL2(NM_001013838.2):c.810G>A (p.A270=) - RLTPR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*10065C>T likely benign r.(=) p.(=) Unknown g.67681444G>A - CARMIL2(NM_001013838.2):c.810G>A (p.A270=) - RLTPR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*10078G>A VUS r.(=) p.(=) Unknown g.67681431C>T - CARMIL2(NM_001013838.1):c.797C>T (p.A266V) - RLTPR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*10221C>A VUS r.(=) p.(=) Unknown g.67681288G>T - CARMIL2(NM_001013838.1):c.774G>T (p.R258S) - ACD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*10845G>C VUS r.(=) p.(=) Unknown g.67680664C>G - CARMIL2(NM_001013838.2):c.514C>G (p.P172A) - RLTPR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*11304C>T likely benign r.(=) p.(=) Unknown g.67680205G>A - CARMIL2(NM_001013838.1):c.366G>A (p.S122=) - ACD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11549C>T likely benign r.(=) p.(=) Unknown g.67679960G>A - CARMIL2(NM_001013838.1):c.226G>A (p.A76T) - ACD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11577C>A likely benign r.(=) p.(=) Unknown g.67679932G>T - CARMIL2(NM_001013838.1):c.198G>T (p.T66=) - ACD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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