Full data view for gene MLH3


Information The variants shown are described using the NM_001040108.1 transcript reference sequence.

435 entries on 5 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »

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.6C>G r.(?) p.(Ile2Met) Unknown - VUS g.75516353G>C - - - ACYP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8A>G r.(?) p.(Lys3Arg) 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.8A>G r.(?) p.(Lys3Arg) 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.8A>G r.(?) p.(Lys3Arg) 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.8A>G r.(?) p.(Lys3Arg) 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.60C>T r.(?) p.(=) Unknown - likely benign g.75516299G>A - - - ACYP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.70C>G r.(?) p.(Gln24Glu) Unknown - VUS g.75516289G>C g.75049586G>C - - MLH3_000051 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.70C>G r.(?) p.(Gln24Glu) Parent #1 - pathogenic g.75516289G>C g.75049586G>C C->G at 70 - MLH3_000051 - PubMed: Wu 2001 - rs28937870 Unknown - - - - - DNA SEQ - - ? - - - - - Netherlands - - - - - 1 INSiGHT group
-/. 2 c.70C>G r.(?) p.(Gln24Glu) Parent #1 - benign g.75516289G>C g.75049586G>C - - MLH3_000051 - PubMed: Korhonen 2008 - rs28937870 Unknown - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Rolf Sijmons
-/. 2 c.70C>G r.(?) p.(Gln24Glu) Parent #1 - benign g.75516289G>C g.75049586G>C - - MLH3_000051 - PubMed: Korhonen 2008 - rs28937870 Unknown - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Rolf Sijmons
-/. 2 c.70C>G r.(?) p.(Gln24Glu) Parent #1 - benign g.75516289G>C g.75049586G>C - - MLH3_000051 - PubMed: Korhonen 2008 - rs28937870 Unknown - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Rolf Sijmons
+?/. 2 c.70C>G r.(?) p.(Gln24Glu) Parent #1 - likely pathogenic g.75516289G>C g.75049586G>C - - MLH3_000051 - PubMed: Korhonen 2008 - rs28937870 Unknown - - - - - DNA SEQ - - cancer, bladder, CRC - - - - - Finland - - - - - 1 Rolf Sijmons
-?/. 2 c.70C>G r.(?) p.(Gln24Glu) Parent #1 - likely benign g.75516289G>C g.75049586G>C - - MLH3_000051 - - - rs28937870 Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 InSiGHT - John-Paul Plazzer
+/. 2 c.70C>G r.(?) p.(Gln24Glu) Parent #1 - pathogenic g.75516289G>C g.75049586G>C C->G at 70 - MLH3_000051 - PubMed: Wu 2001 - rs28937870 Unknown - - - - - DNA SEQ - - CRC - - - - - Finland - - - - - 1 Rolf Sijmons
-/. 2 c.70C>G r.(?) p.(Gln24Glu) Parent #1 - benign g.75516289G>C g.75049586G>C - - MLH3_000051 - PubMed: Korhonen 2008 - rs28937870 Unknown - - - - - DNA SEQ - - ? - - - ? - Netherlands - - - - - 1 INSiGHT group
-/. 2 c.70C>G r.(?) p.(Gln24Glu) Parent #1 - benign g.75516289G>C g.75049586G>C - - MLH3_000051 - PubMed: Korhonen 2008 - rs28937870 Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 2 c.70C>G r.(?) p.(Gln24Glu) Parent #1 - benign g.75516289G>C g.75049586G>C - - MLH3_000051 - PubMed: Korhonen 2008 - rs28937870 Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+?/. 2 c.70C>G r.(?) p.(Gln24Glu) Parent #1 - likely pathogenic g.75516289G>C g.75049586G>C - - MLH3_000051 - PubMed: Korhonen 2008 - rs28937870 Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-?/. 2 c.70C>G r.(?) p.(Gln24Glu) Parent #1 - likely benign g.75516289G>C g.75049586G>C - - MLH3_000051 - OMIM:var604395.0002 - rs28937870 Germline - - - - - DNA SEQ - - cancer - - - ? - Finland - - - - - 1 Rolf Sijmons
?/. - c.70C>G r.(?) p.(Gln24Glu) Unknown - VUS g.75516289G>C - MLH3(NM_001040108.1):c.70C>G (p.Q24E) - MLH3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.82G>T r.(?) p.Glu28Ter) Unknown ACMG pathogenic (dominant) g.75516277C>A g.75049574C>A - - MLH3_000114 - - 1382180 - Germline - - - - - DNA SEQ-NG - - MINAS MINAS_25 - - M ? Brazil - - - - - 1 Giovana Torrezan
-?/. - c.96C>T r.(?) p.(Asn32=) Unknown - likely benign g.75516263G>A - MLH3(NM_001040108.1):c.96C>T (p.(=)) - ACYP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.98G>A r.(?) p.(Ser33Asn) Unknown - VUS g.75516261C>T - MLH3(NM_001040108.1):c.98G>A (p.(Ser33Asn)) - ACYP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.126T>G r.(?) p.(Ala42=) Unknown - VUS g.75516233A>C - MLH3(NM_001040108.1):c.126T>G (p.(Ala42=)) - ACYP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.220T>C r.(?) p.(Phe74Leu) Unknown - VUS g.75516139A>G g.75049436A>G - - MLH3_000001 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.220T>C r.(?) p.(Phe74Leu) Parent #1 - VUS g.75516139A>G g.75049436A>G 344T>C - MLH3_000001 - PubMed: Lipkin 2001 - - Germline - 1/120 - - - DNA DHPLC - - ? - - - - - - - - - - - 1 InSiGHT - John-Paul Plazzer
?/. 2 c.277C>G r.(?) p.(Arg93Gly) Unknown - VUS g.75516082G>C g.75049379G>C - - MLH3_000002 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.277C>G r.(?) p.(Arg93Gly) Unknown - VUS g.75516082G>C g.75049379G>C - - MLH3_000002 - - - - Unknown - 0.01 - - - - - - - - - - - - - - - - - - - - -
?/. - c.299T>C r.(?) p.(Ile100Thr) Unknown - VUS g.75516060A>G - MLH3(NM_001040108.2):c.299T>C (p.I100T) - ACYP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.359T>C r.(?) p.(Phe120Ser) Unknown - VUS g.75516000A>G g.75049297A>G - - MLH3_000003 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.359T>C r.(?) p.(Phe120Ser) Unknown - likely pathogenic g.75516000A>G g.75049297A>G - - MLH3_000003 - - - - Unknown - - - - - DNA SEQ - - ? - - - - - United States - - - - - 1 Rina Kansal
?/. 2 c.359T>C r.(?) p.(Phe120Ser) Unknown - VUS g.75516000A>G g.75049297A>G - - MLH3_000003 - - - - Unknown - 0.01 - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.359T>C r.(?) p.(Phe120Ser) Unknown - likely pathogenic g.75516000A>G g.75049297A>G - - MLH3_000003 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.408T>C r.(?) p.(=) Unknown - VUS g.75515951A>G g.75049248A>G - - MLH3_000004 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.408T>C r.(?) p.(=) Unknown - VUS g.75515951A>G g.75049248A>G - - MLH3_000004 - - - - Unknown - N.D. - - - DNA SEQ - - ? - - - ? - United States - - - - - 1 Rina Kansal
-?/. - c.408T>C r.(?) p.(Asp136=) 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.408T>C r.(?) p.(Asp136=) 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.408T>C r.(?) p.(Asp136=) 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.429G>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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.444G>C r.(?) p.(=) Unknown - VUS g.75515915C>G g.75049212C>G - - MLH3_000005 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.444G>C r.(?) p.(=) Unknown - VUS g.75515915C>G g.75049212C>G - - MLH3_000005 - - - - Unknown - 0.1 - - - DNA SEQ - - ? - - - ? - United States - - - - - 1 Rina Kansal
-/. - c.444G>C r.(?) p.(Val148=) Unknown - benign g.75515915C>G - MLH3(NM_001040108.1):c.444G>C (p.(Val148=)) - MLH3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.447T>C r.(?) p.(=) Unknown - VUS g.75515912A>G g.75049209A>G - - MLH3_000052 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.447T>C r.(?) p.(=) Parent #1 - likely benign g.75515912A>G g.75049209A>G 561T>C (Tyr149Tyr) - MLH3_000052 - PubMed: Lipkin 2001 - - Germline - 4/120 - - - DNA DHPLC - - ? - - - - - - - - - - - 1 InSiGHT - John-Paul Plazzer
-?/. 2 c.447T>C r.(?) p.(=) Parent #1 - likely benign g.75515912A>G g.75049209A>G 561T>C (Tyr149Tyr) - MLH3_000052 - PubMed: Lipkin 2001 - - Germline - 4/120 - - - - - - - - - - - - - - - - - - - - -
?/. - c.542T>C r.(?) p.(Met181Thr) Unknown - VUS g.75515817A>G - MLH3(NM_001040108.1):c.542T>C (p.(Met181Thr)) - ACYP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.617A>G r.(?) p.(Asp206Gly) Unknown - VUS g.75515742T>C - MLH3(NM_001040108.1):c.617A>G (p.(Asp206Gly)) - ACYP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.666G>A r.(?) p.(=) Unknown - VUS g.75515693C>T g.75048990C>T - - MLH3_000006 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.666G>A r.(?) p.(=) Unknown - VUS g.75515693C>T g.75048990C>T - - MLH3_000006 - Zhang H (2005) Clinical Characterization HNPCC Families Northern Chinese Population - - Germline - - - - - DNA ? - - HNPCC (Lynch) - Zhang H. The Clinical Characterization of HNPCC Families from Northern Chinese Population and the Role of hMLH3 and hEXO1 Germline Mutation in HNPCC. Third Military Medical University, 2007 - - - China - - - - - 1 InSiGHT - John-Paul Plazzer
-/. - c.666G>A r.(?) p.(Lys222=) 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.666G>A r.(?) p.(Lys222=) 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.691A>C r.(?) p.(Lys231Gln) Unknown - VUS g.75515668T>G g.75048965T>G - - MLH3_000007 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.691A>C r.(?) p.(Lys231Gln) Unknown - VUS g.75515668T>G g.75048965T>G - - MLH3_000007 - - - rs28756981 Unknown - 0.023 - - - DNA DHPLC - - ? - - - ? - - - - - - - 1 InSiGHT - John-Paul Plazzer
-?/. - c.691A>C r.(?) p.(Lys231Gln) Parent #1 - likely benign g.75515668T>G g.75048965T>G - - MLH3_000007 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28756981 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.691A>C r.(?) p.(Lys231Gln) 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.691A>C r.(?) p.(Lys231Gln) 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.691A>C r.(?) p.(Lys231Gln) 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.713A>C r.(?) p.(Tyr238Ser) 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.735C>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.837C>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.860G>A r.(?) p.(Ser287Asn) Unknown - VUS g.75515499C>T - MLH3(NM_001040108.1):c.860G>A (p.(Ser287Asn)) - ACYP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.867A>G r.(?) p.(Gln289=) Unknown - VUS g.75515492T>C - MLH3(NM_001040108.1):c.867A>G (p.(=)) - ACYP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.880C>G r.(?) p.(Leu294Val) 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.880C>G r.(?) p.(Leu294Val) Unknown - likely benign g.75515479G>C - MLH3(NM_001040108.2):c.880C>G (p.L294V) - ACYP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.885del r.(?) p.(His296Thrfs*12) Unknown - VUS g.75515475del g.75048772del - - MLH3_000063 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.885del r.(?) p.(His296Thrfs*12) Parent #1 - pathogenic g.75515475del g.75048772del del G at 885 - MLH3_000063 - PubMed: Liu 2003,{OMIM:604395:0006} - - Unknown - - - - - DNA SEQ - - ? - - - - - Sweden - - - - - 1 INSiGHT group
?/. - c.889C>T r.(?) p.(Arg297Trp) Unknown - VUS g.75515470G>A - MLH3(NM_001040108.2):c.889C>T (p.R297W) - ACYP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.921_922insT r.(?) p.(Ile308Tyrfs*2) Unknown - VUS g.75515437_75515438insA g.75048734_75048735insA - - MLH3_000008 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.921_922insT r.(?) p.(Ile308Tyrfs*2) Unknown - VUS g.75515437_75515438insA g.75048734_75048735insA - - MLH3_000008 - - - - Unknown - N.D. - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.996C>T r.(?) p.(=) Unknown - VUS g.75515363G>A g.75048660G>A - - MLH3_000053 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.996C>T r.(?) p.(=) Parent #1 - likely benign g.75515363G>A g.75048660G>A 1111C>T (Asn333Asn) - MLH3_000053 - PubMed: Lipkin 2001 - - Germline - 0.005 - - - DNA DHPLC - - ? - - - - - - - - - - - 1 InSiGHT - John-Paul Plazzer
-?/. 2 c.996C>T r.(?) p.(=) Parent #1 - likely benign g.75515363G>A g.75048660G>A 1111C>T (Asn333Asn) - MLH3_000053 - PubMed: Lipkin 2001 - - Germline - 0.005 - - - DNA SEQ - - ? - - - ? - Sweden - - - - - 1 INSiGHT group
?/. - c.1017C>T r.(?) p.(Cys339=) Unknown - VUS g.75515342G>A - MLH3(NM_001040108.1):c.1017C>T (p.(=)) - ACYP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.1168T>A r.(?) p.(Phe390Ile) Unknown - VUS g.75515191A>T g.75048488A>T - - MLH3_000009 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.1168T>A r.(?) p.(Phe390Ile) Unknown - VUS g.75515191A>T g.75048488A>T - - MLH3_000009 - - - - Unknown - N.D. - - - - - - - - - - - - - - - - - - - - -
?/. - c.1168T>A r.(?) p.(Phe390Ile) Unknown - VUS g.75515191A>T - MLH3(NM_001040108.1):c.1168T>A (p.(Phe390Ile)) - MLH3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.1234A>G r.(?) p.(Lys412Glu) Unknown - VUS g.75515125T>C g.75048422T>C - - MLH3_000010 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.1234A>G r.(?) p.(Lys412Glu) Parent #1 - pathogenic g.75515125T>C g.75048422T>C - - MLH3_000010 - PubMed: Liu 2003 - - Unknown - - - - - DNA SEQ - - ? - - - - - Sweden - - - - - 1 INSiGHT group
?/. 2 c.1234A>G r.(?) p.(Lys412Glu) Unknown - VUS g.75515125T>C g.75048422T>C exon01; A1234G - MLH3_000010 - - - - Unknown - 0.0238 - - - DNA DHPLC, SEQ - - ? - Zhao 2004:Mutation of mismatch repair gene hMLH3 in familial gastric cancer - - - China - - - - - 1 InSiGHT - John-Paul Plazzer
+/. 2 c.1234A>G r.(?) p.(Lys412Glu) Parent #1 - pathogenic g.75515125T>C g.75048422T>C - - MLH3_000010 - PubMed: Liu 2003 - - Unknown - - - - - DNA DHPLC - - ? - - - ? - - - - - - - 1 InSiGHT - John-Paul Plazzer
?/. 2 c.1234A>G r.(?) p.(Lys412Glu) Unknown - VUS g.75515125T>C g.75048422T>C - - MLH3_000010 - - - - Unknown - N.D. - - - DNA SEQ - - ? - - - ? - Sweden - - - - - 1 INSiGHT group
?/. - c.1234A>G r.(?) p.(Lys412Glu) Unknown - VUS g.75515125T>C - MLH3(NM_001040108.1):c.1234A>G (p.(Lys412Glu)) - MLH3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.1258G>A r.(?) p.(Val420Ile) Unknown - VUS g.75515101C>T g.75048398C>T - - MLH3_000011 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.1258G>A r.(?) p.(Val420Ile) Parent #1 - benign g.75515101C>T g.75048398C>T - - MLH3_000011 - PubMed: Loukola 2000 - rs28756982 Unknown - 19054 - - - DNA SSCA - - CRC - - - - - - - - - - - 1 InSiGHT - John-Paul Plazzer
-/. 2 c.1258G>A r.(?) p.(Val420Ile) Parent #1 - benign g.75515101C>T g.75048398C>T - - MLH3_000011 - PubMed: Loukola 2000 - rs28756982 Unknown - 20515 - - - DNA SSCA - - ? - - - - - - - - - - - 1 InSiGHT - John-Paul Plazzer
-/. 2 c.1258G>A r.(?) p.(Val420Ile) Parent #1 - benign g.75515101C>T g.75048398C>T - - MLH3_000011 - - - rs28756982 Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 InSiGHT - John-Paul Plazzer
-/. 2 c.1258G>A r.(?) p.(Val420Ile) Parent #1 - benign g.75515101C>T g.75048398C>T - - MLH3_000011 - PubMed: Loukola 2000 - rs28756982 Unknown - 19054 - - - DNA DHPLC, SEQ - - ? - Zhao 2004 - ? - China - - - - - 1 InSiGHT - John-Paul Plazzer
-/. 2 c.1258G>A r.(?) p.(Val420Ile) Parent #1 - benign g.75515101C>T g.75048398C>T - - MLH3_000011 - - - rs28756982 Germline - - - - - DNA SSCA - - CRC - - - ? - - - - - - - 1 InSiGHT - John-Paul Plazzer
?/. 2 c.1258G>A r.(?) p.(Val420Ile) Unknown - VUS g.75515101C>T g.75048398C>T - - MLH3_000011 - - - rs28756982 Unknown - 0.021 - - - DNA SSCA - - ? - - - ? - - - - - - - 1 InSiGHT - John-Paul Plazzer
-?/. - c.1258G>A r.(?) p.(Val420Ile) Parent #1 - likely benign g.75515101C>T g.75048398C>T - - MLH3_000011 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28756982 Germline - 7/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
-/. - c.1258G>A r.(?) p.(Val420Ile) 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.1258G>A r.(?) p.(Val420Ile) 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.1258G>A r.(?) p.(Val420Ile) 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.1289dup r.(?) p.(Thr431Tyrfs*7) Unknown - VUS g.75515070dup g.75048367dup - - MLH3_000040 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.1289dup r.(?) p.(Thr431Tyrfs*7) Unknown - VUS g.75515070dup g.75048367dup - - MLH3_000040 - - - - Unknown - N.D. - - - DNA SEQ - - ? - - - ? - Sweden - - - - - 1 INSiGHT group
?/. 2 c.1474C>G r.(?) p.(Leu492Val) Unknown - VUS g.75514885G>C g.75048182G>C - - MLH3_000012 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.1474C>G r.(?) p.(Leu492Val) Unknown - VUS g.75514885G>C g.75048182G>C - - MLH3_000012 - - - - Unknown - 0.011 - - - DNA SEQ - - ? - - - ? - - - - - - - 1 InSiGHT - John-Paul Plazzer
?/. 2 c.1496A>G r.(?) p.(Asn499Ser) Unknown - VUS g.75514863T>C g.75048160T>C - - MLH3_000054 - copied from InSiGHT database - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.1496A>G r.(?) p.(Asn499Ser) Parent #1 - pathogenic g.75514863T>C g.75048160T>C - - MLH3_000054 - PubMed: Wu 2001 - rs28937871 Unknown - - - - - DNA SEQ - - ? - - - - - Netherlands - - - - - 1 INSiGHT group
-?/. 2 c.1496A>G r.(?) p.(Asn499Ser) Parent #1 - likely benign g.75514863T>C g.75048160T>C - - MLH3_000054 - - - rs28937871 Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 InSiGHT - John-Paul Plazzer
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.