"Institute for Biomarker Research, Medical Diagnostic Laboratories, L. - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 184385	NM_000251.2(MSH2):c.-102T>C	MSH2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 41650	NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)	MSH2 (A2T)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GLikely benign
Select item 91181	NM_000251.3(MSH2):c.6G>T (p.Ala2=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GLikely benign
Select item 237357	NM_000251.3(MSH2):c.10C>A (p.Gln4Lys)	MSH2 (Q4K)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 90964	NM_000251.3(MSH2):c.23C>T (p.Thr8Met)	MSH2 (T8M)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 182595	NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)	MSH2 (F19L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 188160	NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)	MSH2 (F23L)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 90619	NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)	MSH2 (Y43C)	Single nucleotide variant (missense variant +1 more)	Mismatch repair cancer syndrome 2 +9 more	GConflicting classifications of pathogenicity
Select item 91050	NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)	MSH2 (L94del +1 more)	Microsatellite (inframe_deletion)	Lynch syndrome	GBenign
Select item 3236727	NM_000251.3(MSH2):c.298G>C (p.Val100Leu)	MSH2 (V100L +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 36576	NM_000251.3(MSH2):c.339G>A (p.Lys113=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 127644	NM_000251.3(MSH2):c.382C>G (p.Leu128Val)	MSH2 (L128V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 91097	NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	MSH2 (I145M +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +11 more	GConflicting classifications of pathogenicity
Select item 408460	NM_000251.3(MSH2):c.439G>A (p.Val147Ile)	MSH2 (V147I +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 91140	NM_000251.3(MSH2):c.573C>T (p.Leu191=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 183729	NM_000251.3(MSH2):c.606C>G (p.Pro202=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 41651	NM_000251.3(MSH2):c.815C>T (p.Ala272Val)	MSH2 (A272V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 1692300	NM_000251.3(MSH2):c.942+21_942+29del	MSH2	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 1685774	NM_000251.3(MSH2):c.942+23_942+29del	MSH2	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 801683	NM_000251.3(MSH2):c.942+22_942+29del	MSH2	Deletion (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 252474	NM_000251.3(MSH2):c.942+25_942+29del	MSH2	Deletion (intron variant)	Lynch syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 182601	NM_000251.3(MSH2):c.942+17_942+29del	MSH2	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 187358	NM_000251.3(MSH2):c.964G>A (p.Gly322Ser)	MSH2 (G322S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1762	NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)	MSH2 (G322D +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 91269	NM_000251.3(MSH2):c.984C>T (p.Ala328=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 387932	NM_000251.3(MSH2):c.1032G>A (p.Gln344=)	MSH2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 36562	NM_000251.3(MSH2):c.1077-10T>C	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 90570	NM_000251.3(MSH2):c.1221C>G (p.Leu407=)	MSH2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 491757	NM_000251.3(MSH2):c.1276+10G>A	MSH2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 92665	NM_000251.3(MSH2):c.1277-8T>C	MSH2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 36565	NM_000251.3(MSH2):c.1387-8G>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1	GBenign
Select item 90698	NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome +7 more	GConflicting classifications of pathogenicity
Select item 182564	NM_000251.3(MSH2):c.1571G>A (p.Arg524His)	MSH2 (R524H +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +8 more	GConflicting classifications of pathogenicity
Select item 36568	NM_000251.3(MSH2):c.1666T>C (p.Leu556=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 36570	NM_000251.3(MSH2):c.1737A>G (p.Lys579=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 41646	NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)	MSH2 (N596S +1 more)	Single nucleotide variant (missense variant)	Mismatch repair cancer syndrome 1 +8 more	GConflicting classifications of pathogenicity
Select item 90843	NM_000251.3(MSH2):c.2005+8dup	MSH2	Duplication (intron variant)	Lynch syndrome	GLikely benign
Select item 90910	NM_000251.3(MSH2):c.2154A>G (p.Gln718=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 138255	NM_000251.3(MSH2):c.2205C>T (p.Ile735=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 2773618	NM_000251.3(MSH2):c.2380A>G (p.Ile794Val)	MSH2 (I783V +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 659154	NM_000251.3(MSH2):c.2380A>C (p.Ile794Leu)	MSH2 (I794L +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +3 more	GConflicting classifications of pathogenicity
Select item 491805	NM_000251.3(MSH2):c.2398C>T (p.Leu800=)	MSH2	Single nucleotide variant (synonymous variant)	Muir-Torré syndrome +4 more	GBenign/Likely benign
Select item 91006	NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu)	MSH2 (S860L +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 508745	NM_000251.3(MSH2):c.2634+4T>C	MSH2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 91042	NM_000251.3(MSH2):c.2766T>C (p.Phe922=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome 1	GBenign

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Items: 45