Full data view for gene ACYP1

Information The variants shown are described using the NM_001107.3 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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.-6920T>C r.(?) p.(=) Unknown - likely benign g.75537568A>G - ZC2HC1C(NM_024643.4):c.292A>G (p.S98G) - ACYP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3794C>G r.(=) p.(=) Unknown - VUS g.75516353G>C - - - ACYP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3796A>G r.(=) p.(=) Unknown - benign g.75516351T>C - MLH3(NM_001040108.1):c.8A>G (p.(Lys3Arg)), MLH3(NM_001040108.2):c.8A>G (p.K3R) - ACYP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3796A>G r.(=) p.(=) Unknown - likely benign g.75516351T>C - MLH3(NM_001040108.1):c.8A>G (p.(Lys3Arg)), MLH3(NM_001040108.2):c.8A>G (p.K3R) - ACYP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3796A>G r.(=) p.(=) Unknown - benign g.75516351T>C - MLH3(NM_001040108.1):c.8A>G (p.(Lys3Arg)), MLH3(NM_001040108.2):c.8A>G (p.K3R) - ACYP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3796A>G r.(=) p.(=) Unknown - benign g.75516351T>C - MLH3(NM_001040108.1):c.8A>G (p.(Lys3Arg)), MLH3(NM_001040108.2):c.8A>G (p.K3R) - ACYP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3848C>T r.(=) p.(=) Unknown - likely benign g.75516299G>A - - - ACYP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3858C>G r.(=) p.(=) Unknown - VUS g.75516289G>C - MLH3(NM_001040108.1):c.70C>G (p.Q24E) - MLH3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3884C>T r.(=) p.(=) Unknown - likely benign g.75516263G>A - MLH3(NM_001040108.1):c.96C>T (p.(=)) - ACYP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3886G>A r.(=) p.(=) Unknown - VUS g.75516261C>T - MLH3(NM_001040108.1):c.98G>A (p.(Ser33Asn)) - ACYP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3914T>G r.(=) p.(=) Unknown - VUS g.75516233A>C - MLH3(NM_001040108.1):c.126T>G (p.(Ala42=)) - ACYP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4087T>C r.(=) p.(=) Unknown - VUS g.75516060A>G - MLH3(NM_001040108.2):c.299T>C (p.I100T) - ACYP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4196T>C r.(=) p.(=) Unknown - likely benign g.75515951A>G - MLH3(NM_001040108.1):c.408T>C (p.(Asp136=)), MLH3(NM_001040108.2):c.408T>C (p.D136=) - MLH3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4196T>C r.(=) p.(=) Unknown - likely benign g.75515951A>G - MLH3(NM_001040108.1):c.408T>C (p.(Asp136=)), MLH3(NM_001040108.2):c.408T>C (p.D136=) - MLH3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4196T>C r.(=) p.(=) Unknown - likely benign g.75515951A>G - MLH3(NM_001040108.1):c.408T>C (p.(Asp136=)), MLH3(NM_001040108.2):c.408T>C (p.D136=) - MLH3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4217G>A r.(=) p.(=) Unknown - likely benign g.75515930C>T - MLH3(NM_001040108.1):c.429G>A (p.(Gly143=)) - ACYP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4232G>C r.(=) p.(=) Unknown - benign g.75515915C>G - MLH3(NM_001040108.1):c.444G>C (p.(Val148=)) - MLH3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4330T>C r.(=) p.(=) Unknown - VUS g.75515817A>G - MLH3(NM_001040108.1):c.542T>C (p.(Met181Thr)) - ACYP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4405A>G r.(=) p.(=) Unknown - VUS g.75515742T>C - MLH3(NM_001040108.1):c.617A>G (p.(Asp206Gly)) - ACYP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4454G>A r.(=) p.(=) Unknown - benign g.75515693C>T - MLH3(NM_001040108.1):c.666G>A (p.(Lys222=)), MLH3(NM_001040108.2):c.666G>A (p.K222=) - MLH3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4454G>A r.(=) p.(=) Unknown - benign g.75515693C>T - MLH3(NM_001040108.1):c.666G>A (p.(Lys222=)), MLH3(NM_001040108.2):c.666G>A (p.K222=) - MLH3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4479A>C r.(=) p.(=) Unknown - benign g.75515668T>G - MLH3(NM_001040108.1):c.691A>C (p.(Lys231Gln)), MLH3(NM_001040108.2):c.691A>C (p.K231Q) - MLH3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4479A>C r.(=) p.(=) Unknown - likely benign g.75515668T>G - MLH3(NM_001040108.1):c.691A>C (p.(Lys231Gln)), MLH3(NM_001040108.2):c.691A>C (p.K231Q) - MLH3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4479A>C r.(=) p.(=) Unknown - benign g.75515668T>G - MLH3(NM_001040108.1):c.691A>C (p.(Lys231Gln)), MLH3(NM_001040108.2):c.691A>C (p.K231Q) - MLH3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4501A>C r.(=) p.(=) Unknown - likely benign g.75515646T>G - MLH3(NM_001040108.2):c.713A>C (p.Y238S) - ACYP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4523C>T r.(=) p.(=) Unknown - likely benign g.75515624G>A - MLH3(NM_001040108.1):c.735C>T (p.(Tyr245=)) - ACYP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4625C>T r.(=) p.(=) Unknown - likely benign g.75515522G>A - MLH3(NM_001040108.2):c.837C>T (p.C279=) - ACYP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4648G>A r.(=) p.(=) Unknown - VUS g.75515499C>T - MLH3(NM_001040108.1):c.860G>A (p.(Ser287Asn)) - ACYP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4655A>G r.(=) p.(=) Unknown - VUS g.75515492T>C - MLH3(NM_001040108.1):c.867A>G (p.(=)) - ACYP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4668C>G r.(=) p.(=) Unknown - likely benign g.75515479G>C - MLH3(NM_001040108.2):c.880C>G (p.L294V) - ACYP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4668C>G r.(=) p.(=) Unknown - likely benign g.75515479G>C - MLH3(NM_001040108.2):c.880C>G (p.L294V) - ACYP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4677C>T r.(=) p.(=) Unknown - VUS g.75515470G>A - MLH3(NM_001040108.2):c.889C>T (p.R297W) - ACYP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4805C>T r.(=) p.(=) Unknown - VUS g.75515342G>A - MLH3(NM_001040108.1):c.1017C>T (p.(=)) - ACYP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4956T>A r.(=) p.(=) Unknown - VUS g.75515191A>T - MLH3(NM_001040108.1):c.1168T>A (p.(Phe390Ile)) - MLH3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5022A>G r.(=) p.(=) Unknown - VUS g.75515125T>C - MLH3(NM_001040108.1):c.1234A>G (p.(Lys412Glu)) - MLH3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5046G>A r.(=) p.(=) Unknown - benign g.75515101C>T - MLH3(NM_001040108.1):c.1258G>A (p.(Val420Ile)), MLH3(NM_001040108.2):c.1258G>A (p.V420I) - MLH3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5046G>A r.(=) p.(=) Unknown - likely benign g.75515101C>T - MLH3(NM_001040108.1):c.1258G>A (p.(Val420Ile)), MLH3(NM_001040108.2):c.1258G>A (p.V420I) - MLH3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5046G>A r.(=) p.(=) Unknown - likely benign g.75515101C>T - MLH3(NM_001040108.1):c.1258G>A (p.(Val420Ile)), MLH3(NM_001040108.2):c.1258G>A (p.V420I) - MLH3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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