Full data view for gene MLH1


MLH1 variants classified by the InSiGHT consortium: criteria used for classification are available here. We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.
Information The variants shown are described using the NM_000249.3 transcript reference sequence.

322 entries on 4 pages. Showing entries 1 - 100.
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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.1668-19A>G r.(=) p.(=) Unknown - benign g.37083740A>G g.37042249A>G MLH1(NM_000249.3):c.1668-19A>G, MLH1(NM_000249.4):c.1668-19A>G - MLH1_000585 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1668-19A>G r.(=) p.(=) Unknown - benign g.37083740A>G g.37042249A>G MLH1(NM_000249.3):c.1668-19A>G, MLH1(NM_000249.4):c.1668-19A>G - MLH1_000585 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1668-19A>G r.(=) p.(=) Unknown - benign g.37083740A>G g.37042249A>G MLH1(NM_000249.3):c.1668-19A>G, MLH1(NM_000249.4):c.1668-19A>G - MLH1_000585 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1668-19A>G r.(=) p.(=) Unknown - benign g.37083740A>G g.37042249A>G MLH1(NM_000249.3):c.1668-19A>G, MLH1(NM_000249.4):c.1668-19A>G - MLH1_000585 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1668-19A>G r.(=) p.(=) Unknown - benign g.37083740A>G g.37042249A>G MLH1(NM_000249.3):c.1668-19A>G, MLH1(NM_000249.4):c.1668-19A>G - MLH1_000585 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1668-19A>G r.(=) p.(=) Unknown - benign g.37083740A>G g.37042249A>G MLH1(NM_000249.3):c.1668-19A>G, MLH1(NM_000249.4):c.1668-19A>G - MLH1_000585 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 14i c.1668-19A>G r.(?) p.(=) Unknown InSiGHT benign g.37083740A>G g.37042249A>G - - MLH1_000585 Insight class: 1 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 14i c.1668-19A>G r.(?) p.(=) Unknown - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Both (homozygous) - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Both (homozygous) - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Parent #1 - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Unknown - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Unknown - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Parent #1 - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Unknown - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Parent #1 - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Unknown - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Unknown - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Parent #1 - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Parent #1 - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Unknown - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Parent #1 - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Both (homozygous) - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Parent #1 - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Unknown - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Both (homozygous) - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Parent #1 - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Parent #1 - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Both (homozygous) - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.1668-19A>G r.(?) p.(=) Both (homozygous) - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 c.306+5G>A hetero; c.1668-19A>G homo ; c.655A>G hetero Gabriel Capellá and Ignacio Blanco - - Germline - - - - - DNA SEQ, MLPA - - cancer - - - M - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 c.1668-19A>G hetero; c.1459C>T hetero Gabriel Capellá and Ignacio Blanco - - Germline - - - - - DNA SEQ, MLPA - - CRC - - - F - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 c.2041G>A hetero; c.1668-19A>G homo Gabriel Capellá and Ignacio Blanco - - Germline - - - - - DNA SEQ, MLPA - - CRC - - - F - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 MLH1:c.655A>G (p.I219V) and MLH1:c.1669-19A>G. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 MLH1:c.655A>G (p.I219V) and MLH1:c.1669-19A>G. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 MLH1:c.655A>G (p.I219V) and MLH1:c.1669-19A>G. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 MLH1:c.655A>G (p.I219V), MLH1:c.1669-19A>G and MLH1:c.1959G>T (p.L653L). Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 Sequence variants: Two homozygous changes were observed in this patient, MLH1:c.655A>G (p.I219V) and MLH1:c.1669-19A>G. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 MLH1:c.655A>G & MLH1:c.1668-19A>G (both hom). Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 Poly - c.655A>G (I249V) and c.1959G>T (L653L). Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 MLH1:c.655A>G (p.I219V) and MLH1:c.1669-19A>G. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 MLH1:c.655A>G (p.I219V) and MLH1:c.1669-19A>G. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 MLH1: c.655A>G (p.I219V) and MLH1:c.1669-19A>G. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 MLH1:NM_000249.2: c.655A>G (p.I219V) and MLH1:c.1669-19A>G. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 multiple CRCs, BRAF +ve.Three heterozygous changes were observed in this patient, NM_000249.2: c.655A>G (p.I219V), c.1669-19A>G and c.1959G>T (p.L653L). Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 c.655A>G (p.I219V), c.1668-19A>G (heterozygous) Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 c.655A>G (p.I219V), c.1668-19A>G heterozygous. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 CRC dx@69.c.655A>G (p.I219V), c.1558+14G>A and c.1668-19A>G (heterozygous). Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 PHx CRCc.655A>G (p.Ile219Val), c.1668-19A>G (both het) Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 CRC dx@44y.c.655A>G (p.Ile219Val) [het], c.1668-19A>G [hom] Desiree du Sart - - Germline - - - - - DNA ? - - CRC - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 CRC @51y. Mo dx@62 & mat aunt dx@47. Pat FHx also.c.655A>G (p.Ile219Val), c.1668-19A>G (both het) Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 hom:c.1668-19A>Ghom: c.655A>G Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 Bowel Ca @48, PMS2 IHC absentc.655A>G & c.1668-19A>G (both hom). Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 Bowel Ca @58.c.655A>G & c.1668-19A>G (both hom). Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 CRC dx @47y.C.655A>G & c.1668-19A>G (both het) Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 CRC @65, 72, 77.c.655A>G and c.1668-19A>G (both hom). Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 PHx CRC.C.655A>G (het) c.1668-19A>G (hom) Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 c.655A>G and c.1668-19A>G (both het) Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 Seq variants c.655A>G, c.1668-19A>G. both Homozygous Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 BRAF neg. Colon Ca @43yr & 69yr.C.655A>G/n, c.1668-19A>G/n Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 CRC. c.655A>G/n, c.1668-19A>G/n Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 c.655A>G/N, c.1668-19A>G/N Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 CRC@36yc.655A>G/N, c.1668-19A>G/N Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 Phx endometrial Ca. Neg for MSH2 family mutation.Het: c.655A>G and c.1668-19A>G Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 PHx CRC @45y. BRAF no mutation.Het: c.655A>G and c.1668-19A>G Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 Ca retum 27yr.C.655A>G, c.1668-19A>G (both het). Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 c.655A>G/N, c.1668-19A>G/N. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - BRAF V600E mutation status: \""BRAF -ve""""; BRAF testing method: ;"";InSiGHT LOVDv2 ID:1016386; - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 FHx uterine Ca ?HNPCCMLH1 polys: c.655A>G (hom), c.1668-19A>G 9hom).EPCAM also normal on MLPA Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 PHx CRC @43IHC absent MLH1 & PMS2MLPA EPCAM also normal.MLH1 polys: c.1039-8T>A 9hom), c.1558+14G>A (het), c.1668-19G>A (het). Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 PHx CRC. Abnormal IHC for all proteins.MLPA EPCAM also normal. MLH1 reported 22/12/10.MLH1 polys: c.655A>G (het), c.1668-19A>G (hom). Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 CRC, IHC absent MLH1/PMS2MLH1 seq polys: c.655A>G (het) and c.1668-19A>G (het). EPCAM also normal on MLPA Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 Dx with bowel ca @ 65yrs. IHC absent MLH1 & PMS2Two hom seq polys: c.+655A>G, c.1668-19A>GMLPA also neg for EPCAM Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 Ut ca dx 73yrs, IHC absent for MLH1 & PMS2Two het seq polys: c.+655A>G, c.1668-19A>GMLPA also neg for EPCAM Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 PHx CRC dx 67, IHC absent MLH1 & PMS2Het seq variants: c.655A>G, c.1668-19A>GEPCAM MLPA also neg Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 2xCRC, IHC absent MLH1 and PMS2. Austin clinicHet seq variants: c.655A>G, c.1668-19A>G.EPCAM also neg on MLPA Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 MLH1 testing requested.Het seq variants: c.1039-8T>A, c.1558+14G>A, c.1668-19A>G.EPCAM also neg on MLPA Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 IHC absent for MLH1/PMS2 in uterine tumour.EPCAM also neg on MLPA.2 hom seq variants: c.655A>G, c.1668-19A>G. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 CRC dx 55. Large family, nil FHx Ca. IHC absent MLH1/PMS2. Austin clinicEPCAM also neg on MLPA.2 het seq variants: c.655A>G, c.1668-19A>G. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 ? HNPCC. IHC absent MLH1.EPCAM also neg on MLPA.2 seq variants: c.655A>G het, c.1668-19A>G hom. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 CRC at 71, brother had CRC at 69, mother had uterine Ca at 71. IHC absent MLH1/PMS2.EPCAM also neg on MLPA.2 het seq variants: c.655A>G, c.1668-19A>G. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 CRC at 81. Son had rectal Ca at 44. Daughter had pancreatic Ca at 59. EPCAM also neg on MLPA.2 het seq variants: c.655A>G, c.1668-19A>G. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 Endometrial Ca at 52 in patient & sister. IHC absent for MLH1 and PMS2.Het seq variants:c.1668-19A>G, c.655A>G.EPCAM also neg on MLPA. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 MLH1:c.655A>G (p.Ile219Val) and c.1668-19A>G and c.1959G>T (p.Leu653Leu) Adrienne Sexton, Kirsty Mann - - Germline - - - - - DNA ? - - ? - - Sequencing& MLPA of PMS2 did not find mutation. PTT, Seq, MLPA of MLH1 = no mutation. PTT, MLPA of MSH2= no mutation;InSiGHT LOVDv2 ID:1016502;; Proband dx CRC 68y. Sib dx CRC 49y. Parent dx CRC 70y. - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 MLH1:c.655A>G (p.Ile219Val) and c.1668-19A>G Adrienne Sexton, Kirsty Mann - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 MLH1: homoz. c.1668-19A>G + MSH2:c.1666T>C Maurizio Genuardi - - Germline - - - - - DNA SEQ - - CRC - - MLH1 Methylation: negative; Method: ?; Last known age healthy/unknown disease: 60;InSiGHT LOVDv2 ID:1016686; M - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 MLH1: homoz. c.1668-19A>G + MSH2:c.1666T>C Maurizio Genuardi - - Germline - - - - - DNA SEQ - - CRC - - Last known age healthy/unknown disease: 58;InSiGHT LOVDv2 ID:1016746; F - - - - - - - 1 INSiGHT group
?/. 14i c.1668-19A>G r.(?) p.(=) Parent #1 - VUS g.37083740A>G g.37042249A>G g.48761. - MLH1_000585 - PubMed: Rubio-del-Campo 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 14i c.1668-19A>G r.(?) p.(=) Parent #2 - VUS g.37083740A>G g.37042249A>G g.48761. - MLH1_000585 - PubMed: Rubio-del-Campo 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 14i c.1668-19A>G r.(?) p.(=) Parent #1 - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 Authors describe this variant as not leading to an increased susceptibility to sporadic CRC in the Danish population. However there was a borderline sign. p-value between the sporadic and familiar CRC cases. PubMed: Christensen 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 14i c.1668-19A>G r.(?) p.(=) Parent #2 - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 Authors describe this variant as not leading to an increased susceptibility to sporadic CRC in the Danish population. However there was a borderline sign. p-value between the sporadic and familiar CRC cases. PubMed: Christensen 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 - - - - Germline - - - - - DNA SEQ - - ? - - - ? - Netherlands - - - - - 1 Carli Tops
?/. 14i c.1668-19A>G r.(?) p.(=) Unknown - VUS g.37083740A>G g.37042249A>G - - MLH1_000585 - - - - Germline - - - - - DNA SEQ - - ? - - CAPP2 study ? - United Kingdom (Great Britain) - - - - - 1 Juul Wijnen
-/. 14i c.1668-19A>G r.(?) p.(=) Unknown - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 14i c.1668-19A>G r.(?) p.(=) Unknown - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 14i c.1668-19A>G r.(?) p.(=) Unknown - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 14i c.1668-19A>G r.(?) p.(=) Unknown - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 14i c.1668-19A>G r.(?) p.(=) Unknown - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 14i c.1668-19A>G r.(?) p.(=) Unknown - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 14i c.1668-19A>G r.(?) p.(=) Unknown - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 14i c.1668-19A>G r.(?) p.(=) Unknown - pathogenic g.37083740A>G g.37042249A>G - - MLH1_000585 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
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