"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5562	NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys)	MLH3 (E1451K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 314370	NM_001040108.2(MLH3):c.4242+13C>G	MLH3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1734965	NM_001040108.2(MLH3):c.3793A>G (p.Ile1265Val)	MLH3 (I1241V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1120957	NM_001040108.2(MLH3):c.3675C>T (p.His1225=)	MLH3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 220963	NM_001040108.2(MLH3):c.2896T>C (p.Ser966Pro)	MLH3 (S966P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 220674	NM_001040108.2(MLH3):c.2533A>G (p.Ser845Gly)	MLH3 (S845G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 314383	NM_001040108.2(MLH3):c.2390G>A (p.Arg797His)	MLH3 (R797H)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7 +2 more	GBenign
Select item 5561	NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)	AREL1, MLH3 (V741F)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 5560	NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln)	MLH3 (E624Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 238243	NM_001040108.2(MLH3):c.1258G>A (p.Val420Ile)	MLH3 (V420I)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7 +2 more	GBenign/Likely benign
Select item 581825	NM_001040108.2(MLH3):c.962T>C (p.Met321Thr)	MLH3 (M321T)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7 +2 more	GUncertain significance
Select item 220781	NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln)	MLH3 (K231Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 314391	NM_001040108.2(MLH3):c.666G>A (p.Lys222=)	MLH3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1751179	NM_001040108.2(MLH3):c.602T>G (p.Leu201Arg)	MLH3 (L201R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 416448	NM_001040108.2(MLH3):c.359T>C (p.Phe120Ser)	MLH3 (F120S)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 7 +2 more	GLikely benign