"Biesecker Lab/Clinical Genomics Section, National Institutes of Healt - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41640	NM_000249.4(MLH1):c.637G>A (p.Val213Met)	MLH1 (V213M +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 36557	NM_000249.4(MLH1):c.655A>G (p.Ile219Val)	MLH1 (I219V +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 29654	NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)	MLH1 (R265C +3 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 41632	NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)	MLH1 (V384D +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 41633	NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)	MLH1 (R389Q +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 41634	NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)	MLH1 (S406N +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 41635	NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu)	MLH1 (P581L +5 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 41636	NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)	MLH1 (P603R +5 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 17089	NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)	MLH1 (K618A +5 more)	Indel (missense variant +1 more)	Lynch syndrome	GBenign
Select item 41637	NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)	MLH1 (I655V +6 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 41638	NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)	MLH1 (I655T +6 more)	Single nucleotide variant (missense variant +1 more)	MLH1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 41639	NM_000249.4(MLH1):c.2146G>A (p.Val716Met)	MLH1 (V618M +7 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 36547	NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)	MLH1 (H718Y +8 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 36549	NM_000249.4(MLH1):c.*32CTT[1]	MLH1	Microsatellite (3 prime UTR variant)	Lynch syndrome	GBenign