ClinVar for MedGen (Select 40399) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063704	NM_000535.7(PMS2):c.[1556A>G;1559C>T1567T>A]	PMS2 (S523T +23 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3023146	NM_000249.3(MLH1):c.-62T>C	MLH1	Single nucleotide variant (genic upstream transcript variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3020735	NM_000179.3(MSH6):c.1436A>T (p.Lys479Ile)	MSH6 (K349I +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3020527	NM_000535.7(PMS2):c.1144+16T>C	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3020515	NM_000251.3(MSH2):c.1386+15T>C	MSH2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3018972	NM_000535.7(PMS2):c.1923G>T (p.Gly641=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3018829	NM_000249.4(MLH1):c.1017C>T (p.Ser339=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3018540	NM_000535.7(PMS2):c.2256T>G (p.Asp752Glu)	PMS2 (D565E +21 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3018365	NM_000535.7(PMS2):c.259C>T (p.His87Tyr)	PMS2 (H95Y +2 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome +1 more	GUncertain significance
Select item 3017710	NM_000251.3(MSH2):c.25C>T (p.Leu9=)	MSH2	Single nucleotide variant (synonymous variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3017290	NM_000535.7(PMS2):c.23+14G>A	PMS2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3017052	NM_000179.3(MSH6):c.3801+3_3801+6dup	MSH6	Duplication (splice donor variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3015850	NM_000249.4(MLH1):c.149T>C (p.Ile50Thr)	MLH1 (I50T)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3015031	NM_000179.3(MSH6):c.3802-17T>C	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3014154	NM_000251.3(MSH2):c.2459-14C>T	MSH2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3013430	NM_000249.4(MLH1):c.1387G>A (p.Gly463Arg)	MLH1 (G365R +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3013145	NM_000535.7(PMS2):c.904-3C>T	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3013106	NM_000535.7(PMS2):c.1274C>T (p.Ser425Phe)	PMS2 (S114F +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3012780	NM_000179.3(MSH6):c.3801+7G>A	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3012663	NM_000179.3(MSH6):c.2873A>T (p.Gln958Leu)	MSH6 (Q859L +9 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3012007	NM_000249.4(MLH1):c.1125T>C (p.Ser375=)	MLH1	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3011303	NM_000179.3(MSH6):c.2543C>A (p.Thr848Asn)	MSH6 (T673N +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3011278	NM_000179.3(MSH6):c.3184T>C (p.Cys1062Arg)	MSH6 (C1036R +12 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3010933	NM_000179.3(MSH6):c.3438+21dup	MSH6	Duplication (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GBenign
Select item 3010864	NM_000249.4(MLH1):c.840_846delinsA (p.Tyr280_Ala282delinsTer)	MLH1	Indel (intron variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3010817	NM_000535.7(PMS2):c.2_3delinsA (p.Met1fs)	PMS2 (M1fs)	Indel (5 prime UTR variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3010808	NM_000179.3(MSH6):c.2641delinsAAA (p.Gly881fs)	MSH6 (G881fs +8 more)	Indel (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3010551	NM_000535.7(PMS2):c.1553A>T (p.Glu518Val)	PMS2 (E331V +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3010331	NM_000535.7(PMS2):c.628A>C (p.Lys210Gln)	PMS2 (K107Q +6 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3010183	NM_000179.3(MSH6):c.3253_3254delinsTA (p.Thr1085Tyr)	MSH6 (T955Y +2 more)	Indel (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3009813	NM_000249.4(MLH1):c.775T>C (p.Leu259=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3009698	NM_000535.7(PMS2):c.663C>G (p.Pro221=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3009627	NM_000249.4(MLH1):c.2104-16C>T	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3008549	NM_000251.3(MSH2):c.1662-20A>G	MSH2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3008171	NM_000179.3(MSH6):c.2292T>G (p.Thr764=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3007979	NM_000251.3(MSH2):c.2210+14C>T	MSH2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3005678	NM_000535.7(PMS2):c.1212T>C (p.Pro404=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3005231	NM_000535.7(PMS2):c.2405G>C (p.Arg802Pro)	PMS2 (R401P +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3004863	NM_000535.7(PMS2):c.2575A>C (p.Ile859Leu)	PMS2 (I620L +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3004201	NM_000179.3(MSH6):c.3958G>T (p.Ala1320Ser)	MSH6 (A1294S +15 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +1 more	GUncertain significance
Select item 3003810	NM_000179.3(MSH6):c.49C>G (p.Leu17Val)	MSH6 (L17V)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3003346	NM_000251.3(MSH2):c.92C>A (p.Thr31Asn)	MSH2 (T31N)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3002583	NM_000179.3(MSH6):c.3155A>C (p.Glu1052Ala)	MSH6 (E1026A +9 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3002517	NM_000535.7(PMS2):c.353+8A>G	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3001388	NM_000251.3(MSH2):c.2100A>C (p.Ala700=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3000968	NM_000179.3(MSH6):c.3132C>T (p.Tyr1044=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3000574	NM_000179.3(MSH6):c.3439-5C>T	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 3000394	NM_000251.3(MSH2):c.2374A>G (p.Asn792Asp)	MSH2 (N742D +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3000169	NM_000251.3(MSH2):c.112G>C (p.Asp38His)	MSH2 (D38H)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2999763	NM_000179.3(MSH6):c.3801+15T>G	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2999539	NM_000249.4(MLH1):c.1602G>C (p.Val534=)	MLH1	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2998508	NM_000179.3(MSH6):c.3520_3521insGTAA (p.Phe1174fs)	MSH6 (F101fs +14 more)	Insertion (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2997939	NM_000179.3(MSH6):c.1060G>A (p.Gly354Arg)	MSH6 (G179R +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2996953	NM_000179.3(MSH6):c.3761A>T (p.Glu1254Val)	MSH6 (E1124V +14 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2996818	NM_000179.3(MSH6):c.146C>A (p.Ala49Asp)	MSH6 (P31T +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2996769	NM_000179.3(MSH6):c.2157T>A (p.Thr719=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2996592	NM_000179.3(MSH6):c.458-18A>G	MSH6	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2996238	NM_000251.3(MSH2):c.1771C>G (p.Pro591Ala)	MSH2 (P139A +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2996174	NM_000179.3(MSH6):c.213C>A (p.Asn71Lys)	MSH6 (N71K +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2994937	NM_000535.7(PMS2):c.1360C>G (p.Leu454Val)	PMS2 (L197V +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2994842	NM_000251.3(MSH2):c.673A>C (p.Thr225Pro)	MSH2 (T159P +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2994113	NM_000251.3(MSH2):c.2005+15T>G	MSH2 (F674V)	Single nucleotide variant (intron variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2993863	NM_000249.4(MLH1):c.594A>G (p.Gly198=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2993411	NM_000251.3(MSH2):c.2203A>C (p.Ile735Leu)	MSH2 (I595L +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2991402	NM_000249.4(MLH1):c.2066A>T (p.Gln689Leu)	MLH1 (Q331L +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2990461	NM_000251.3(MSH2):c.211+7G>A	MSH2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2989613	NM_000251.3(MSH2):c.2210+21dup	MSH2	Duplication (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2989068	NM_000249.4(MLH1):c.1731+15T>C	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2988610	NM_000179.3(MSH6):c.260+6G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2986028	NM_000179.3(MSH6):c.3564T>G (p.Ser1188Arg)	MSH6 (S1220R +14 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2985384	NM_000179.3(MSH6):c.2832A>G (p.Ile944Met)	MSH6 (I259M +9 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +1 more	GUncertain significance
Select item 2984029	NM_000535.7(PMS2):c.380C>T (p.Ala127Val)	PMS2 (A135V +4 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2983673	NM_000249.4(MLH1):c.1038+7G>T	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2983665	NM_000249.4(MLH1):c.1581C>A (p.Asn527Lys)	MLH1 (N494K +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2983525	NM_000179.3(MSH6):c.1801C>A (p.Leu601Ile)	MSH6 (L502I +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2982503	NM_000249.4(MLH1):c.116+19C>A	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2982270	NM_000535.7(PMS2):c.427del (p.Ile143fs)	PMS2 (I143fs +5 more)	Deletion (frameshift variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2981317	NM_000179.3(MSH6):c.3194A>G (p.Asn1065Ser)	MSH6 (N1039S +12 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome +1 more	GUncertain significance
Select item 2980650	NM_000251.3(MSH2):c.2323G>C (p.Gly775Arg)	MSH2 (G725R +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2980059	NM_000535.7(PMS2):c.251-19A>C	PMS2 (T86P)	Single nucleotide variant (intron variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2978757	NM_000249.4(MLH1):c.454-9dup	MLH1	Duplication (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2977889	NM_000179.3(MSH6):c.1091T>A (p.Val364Asp)	MSH6 (V308D +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2975991	NM_000179.3(MSH6):c.3962G>C (p.Arg1321Thr)	MSH6 (E1317Q +15 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2975847	NM_000249.4(MLH1):c.1984A>G (p.Thr662Ala)	MLH1 (T607A +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2975291	NM_000179.3(MSH6):c.1638G>A (p.Glu546=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2975289	NM_000251.3(MSH2):c.1200C>T (p.Asn400=)	MSH2	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2975288	NM_000251.3(MSH2):c.417T>C (p.Asn139=)	MSH2	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2975287	NM_000251.3(MSH2):c.111C>T (p.Phe37=)	MSH2	Single nucleotide variant (synonymous variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2975206	NM_000249.4(MLH1):c.381-15A>G	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2975055	NM_000251.3(MSH2):c.24G>C (p.Thr8=)	MSH2	Single nucleotide variant (synonymous variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2974299	NM_000251.3(MSH2):c.467A>G (p.Asp156Gly)	MSH2 (D16G +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2974144	NM_000251.3(MSH2):c.2748A>T (p.Ile916=)	MSH2	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2973652	NM_000251.3(MSH2):c.1080G>A (p.Leu360=)	MSH2	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2971934	NM_000251.3(MSH2):c.99A>G (p.Thr33=)	MSH2	Single nucleotide variant (synonymous variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2971263	NM_000535.7(PMS2):c.1649A>G (p.Asp550Gly)	PMS2 (D395G +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2970975	NM_000535.7(PMS2):c.1911G>A (p.Gln637=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2970779	NM_000179.3(MSH6):c.3168G>T (p.Val1056=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2969396	NM_000179.3(MSH6):c.2211A>G (p.Ala737=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2969342	NM_000535.7(PMS2):c.2275+8_2275+9insGAAC	PMS2	Insertion (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2969341	NM_000535.7(PMS2):c.2275+11_2275+12insCC	PMS2	Insertion (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign

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