"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 90306	NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)	MLH1 (G22A)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 90347	NM_000249.4(MLH1):c.76C>T (p.Gln26Ter)	MLH1 (Q26*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90156	NM_000249.4(MLH1):c.307-29C>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 17094	NM_000249.4(MLH1):c.350C>T (p.Thr117Met)	MLH1 (T117M +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 36552	NM_000249.4(MLH1):c.453+25A>G	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 90236	NM_000249.4(MLH1):c.454-51T>C	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36553	NM_000249.4(MLH1):c.454-1G>A	MLH1	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 90243	NM_000249.4(MLH1):c.474C>T (p.Asn158=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome 1	GBenign
Select item 90260	NM_000249.4(MLH1):c.545+3A>G	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GPathogenic
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 619559	NM_000249.4(MLH1):c.678-1G>A	MLH1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 90356	NM_000249.4(MLH1):c.790+1G>A	MLH1	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GPathogenic
Select item 90369	NM_000249.4(MLH1):c.791-1G>C	MLH1	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
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 17098	NM_000249.4(MLH1):c.806C>G (p.Ser269Ter)	MLH1 (S269* +3 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90420	NM_000249.4(MLH1):c.885-24T>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GLikely benign
Select item 90418	NM_000249.4(MLH1):c.885-21TC[2]	MLH1	Microsatellite (intron variant)	Lynch syndrome	GLikely benign
Select item 90435	NM_000249.4(MLH1):c.901C>T (p.Gln301Ter)	MLH1 (Q301* +3 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 36539	NM_000249.4(MLH1):c.1039-8T>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome 1	GBenign
Select item 184677	NM_000249.4(MLH1):c.1140C>T (p.Ala380=)	MLH1	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
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 89753	NM_000249.4(MLH1):c.1489dup (p.Arg497fs)	MLH1 (R399fs +5 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 36541	NM_000249.4(MLH1):c.1558+14G>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36542	NM_000249.4(MLH1):c.1668-19A>G	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 17080	NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)	MLH1 (K618del +5 more)	Microsatellite (inframe_indel +2 more)	Lynch syndrome	GPathogenic
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 89906	NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)	MLH1 (K618T +5 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 89930	NM_000249.4(MLH1):c.1896G>A (p.Glu632=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GPathogenic
Select item 36546	NM_000249.4(MLH1):c.1959G>T (p.Leu653=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
Select item 17099	NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	MLH1 (A681T +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 90014	NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)	MLH1 (R687W +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 455414	NM_000249.4(MLH1):c.2070C>A (p.Tyr690Ter)	MLH1 (Y690* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic
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 36549	NM_000249.4(MLH1):c.*32CTT[1]	MLH1	Microsatellite (3 prime UTR variant)	Lynch syndrome	GBenign

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Items: 35