ClinVar for Gene (Select 5395) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067695	NM_000535.7(PMS2):c.1655A>T (p.His552Leu)	PMS2 (H241L +19 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3066388	NM_000535.7(PMS2):c.2529T>A (p.Cys843Ter)	PMS2 (C442* +28 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome 4	GUncertain significance
Select item 3063864	NM_000535.7(PMS2):c.741_742insGTGTGAAG (p.Ser248delinsValTer)	PMS2	Insertion (nonsense +4 more)	Hereditary nonpolyposis colon cancer	GPathogenic
Select item 3063778	NC_000007.13:g.(6018328_6022454)_(6048681_?)dup	PMS2	Duplication	not specified	GUncertain significance
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 3062958	GRCh37/hg19 7p22.1(chr7:6007649-6753402)x3	AIMP2, CYTH3 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3062357	NM_000535.7:c.(23+1_24-1)_(988+1_989-1)del	PMS2	Deletion	Lynch syndrome	GPathogenic
Select item 3062019	Single allele	AIMP2, EIF2AK1 +1 more	Deletion	not provided	GPathogenic
Select item 3049957	NM_000535.7(PMS2):c.23+32dup	PMS2	Duplication (5 prime UTR variant +1 more)	PMS2-related condition	GLikely benign
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 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 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)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
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 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 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 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 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 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 3002517	NM_000535.7(PMS2):c.353+8A>G	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
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 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 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 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 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 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
Select item 2966432	NM_000535.7(PMS2):c.846G>C (p.Arg282Ser)	PMS2 (R111S +10 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2963877	NM_000535.7(PMS2):c.2007-18A>T	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2962346	NM_000535.7(PMS2):c.250+12T>G	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2956470	NM_000535.7(PMS2):c.2175-18C>A	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2954602	NM_000535.7(PMS2):c.2446-14T>C	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2919803	NM_000535.7(PMS2):c.343T>G (p.Cys115Gly)	PMS2 (C123G +2 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2919507	NM_000535.7(PMS2):c.2275+11A>C	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2918549	NM_000535.7(PMS2):c.2007-9T>A	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2916311	NM_000535.7(PMS2):c.989-18T>C	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2916214	NM_000535.7(PMS2):c.538-14T>C	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2913931	NM_000535.7(PMS2):c.903+18G>T	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2913617	NM_000535.7(PMS2):c.291C>G (p.Asp97Glu)	PMS2 (D105E +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2910105	NM_000535.7(PMS2):c.2131A>G (p.Met711Val)	PMS2 (M520V +20 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2908198	NM_000535.7(PMS2):c.804-9G>T	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2906898	NM_000535.7(PMS2):c.2324_2328delinsGCTGT (p.Asn775_Trp776delinsSerCys)	PMS2	Indel (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2905340	NM_000535.7(PMS2):c.705+7A>G	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2904881	NM_000535.7(PMS2):c.2501T>A (p.Met834Lys)	PMS2 (M433K +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2904242	NM_000535.7(PMS2):c.537+12_537+15del	PMS2	Deletion (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2901042	NM_000535.7(PMS2):c.163+14A>G	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2900398	NM_000535.7(PMS2):c.2175-9_2175-8del	PMS2	Microsatellite (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2899538	NM_000535.7(PMS2):c.2446-20C>T	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2898126	NM_000535.7(PMS2):c.632G>C (p.Arg211Pro)	PMS2 (R211P +6 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2897977	NM_000535.7(PMS2):c.60G>A (p.Arg20=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2897356	NM_000535.7(PMS2):c.1144+16T>A	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2896690	NM_000535.7(PMS2):c.353+17A>G	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2896605	NM_000535.7(PMS2):c.1145-24T>G	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2894094	NM_000535.7(PMS2):c.804-19C>A	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2893921	NM_000535.7(PMS2):c.804-20dup	PMS2	Duplication (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2889113	NM_000535.7(PMS2):c.1006G>A (p.Val336Ile)	PMS2 (V344I +14 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2885295	NM_000535.7(PMS2):c.1013C>A (p.Pro338Gln)	PMS2 (P147Q +14 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2884242	NM_000535.7(PMS2):c.211A>G (p.Asn71Asp)	PMS2 (N71D +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2883889	NM_000535.7(PMS2):c.109A>T (p.Thr37Ser)	PMS2 (T99S +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2880176	NM_000535.7(PMS2):c.1336C>G (p.Pro446Ala)	PMS2 (P135A +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2878628	NM_000535.7(PMS2):c.1770T>A (p.Ile590=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2877237	NM_000535.7(PMS2):c.2462_2466delinsGTCTC (p.Ala821Gly)	PMS2 (A686G +28 more)	Indel (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2876496	NM_000535.7(PMS2):c.250+13T>C	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2875981	NM_000535.7(PMS2):c.668T>A (p.Ile223Lys)	PMS2 (I111K +6 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2875607	NM_000535.7(PMS2):c.462G>A (p.Gly154=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2874276	NM_000535.7(PMS2):c.2140C>G (p.Gln714Glu)	PMS2 (Q403E +20 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2874085	NM_000535.7(PMS2):c.671A>G (p.Lys224Arg)	PMS2 (K121R +6 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2873699	NM_000535.7(PMS2):c.1353G>C (p.Arg451Ser)	PMS2 (R513S +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2870704	NM_000535.7(PMS2):c.149G>T (p.Gly50Val)	PMS2 (G112V +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2870174	NM_000535.7(PMS2):c.2445+13A>G	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2869447	NM_000535.7(PMS2):c.982G>A (p.Asp328Asn)	PMS2 (D216N +14 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2868027	NM_000535.7(PMS2):c.353G>C (p.Ser118Thr)	PMS2 (S118T +2 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 2867012	NM_000535.7(PMS2):c.251-5T>C	PMS2	Single nucleotide variant (intron variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2866622	NM_000535.7(PMS2):c.1160dup (p.Met387fs)	PMS2 (M252fs +19 more)	Duplication (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2865915	NM_000535.7(PMS2):c.721C>A (p.Pro241Thr)	PMS2 (P106T +10 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2864936	NM_000535.7(PMS2):c.709C>G (p.Gln237Glu)	PMS2 (Q245E +10 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2864298	NM_000535.7(PMS2):c.712A>T (p.Ser238Cys)	PMS2 (S135C +10 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2864067	NM_000535.7(PMS2):c.2262T>A (p.Val754=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2863358	NM_000535.7(PMS2):c.692T>C (p.Phe231Ser)	PMS2 (F231S +6 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2862095	NM_000535.7(PMS2):c.1978G>C (p.Ala660Pro)	PMS2 (A473P +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2861020	NM_000535.7(PMS2):c.1264del (p.Glu422fs)	PMS2 (E111fs +19 more)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2860340	NM_000535.7(PMS2):c.2334C>A (p.Phe778Leu)	PMS2 (F377L +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2860157	NM_000535.7(PMS2):c.1500_1501delinsTC (p.Val501Leu)	PMS2 (V310L +19 more)	Indel (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2860099	NM_000535.7(PMS2):c.1847T>G (p.Val616Gly)	PMS2 (V305G +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2858751	NM_000535.7(PMS2):c.499C>T (p.Pro167Ser)	PMS2 (P175S +5 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2858154	NM_000535.7(PMS2):c.346G>C (p.Ala116Pro)	PMS2 (A116P +2 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2857584	NM_000535.7(PMS2):c.251-16T>C	PMS2	Single nucleotide variant (intron variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2856635	NM_000535.7(PMS2):c.1947G>A (p.Arg649=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2855760	NM_000535.7(PMS2):c.800T>G (p.Phe267Cys)	PMS2 (F161C +10 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2855400	NM_000535.7(PMS2):c.154A>C (p.Thr52Pro)	PMS2 (T52P +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2855097	NM_000535.7(PMS2):c.314G>T (p.Gly105Val)	PMS2 (G105V +2 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2853569	NM_000535.7(PMS2):c.787del (p.Leu263fs)	PMS2 (L128fs +10 more)	Deletion (frameshift variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2853531	NM_000535.7(PMS2):c.1059A>C (p.Ala353=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 2853301	NM_000535.7(PMS2):c.838G>T (p.Val280Phe)	PMS2 (V168F +10 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2853103	NM_000535.7(PMS2):c.1948G>T (p.Ala650Ser)	PMS2 (A479S +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance

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