ClinVar for Gene (Select 5378) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308061	NM_000534.5(PMS1):c.434C>G (p.Ala145Gly)	PMS1 (A145G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3308060	NM_000534.5(PMS1):c.1805C>T (p.Thr602Ile)	PMS1 (T602I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308059	NM_000534.5(PMS1):c.1547A>C (p.Lys516Thr)	PMS1 (K477T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215867	NM_000534.5(PMS1):c.570T>G (p.Phe190Leu)	PMS1 (F129L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215866	NM_000534.5(PMS1):c.2746G>T (p.Val916Phe)	PMS1 (V715F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215865	NM_000534.5(PMS1):c.2567C>T (p.Ala856Val)	PMS1 (A817V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215864	NM_000534.5(PMS1):c.2383A>G (p.Met795Val)	PMS1 (M633V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215863	NM_000534.5(PMS1):c.2299C>G (p.Leu767Val)	PMS1 (L706V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215862	NM_000534.5(PMS1):c.1804A>G (p.Thr602Ala)	PMS1 (T426A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215861	NM_000534.5(PMS1):c.1678G>C (p.Val560Leu)	PMS1 (V521L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3058885	NM_000534.5(PMS1):c.418+70del	PMS1 (K163fs)	Deletion (frameshift variant +1 more)	PMS1-related disorder	GLikely benign
Select item 3040736	NM_000534.5(PMS1):c.2755C>T (p.Arg919Cys)	PMS1 (R718C +5 more)	Single nucleotide variant (missense variant +1 more)	PMS1-related disorder	GLikely benign
Select item 2689797	NM_000534.5(PMS1):c.606_607del (p.Arg202fs)	PMS1 (R141fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2689796	NM_000534.5(PMS1):c.1952G>A (p.Arg651Lys)	PMS1 (R475K +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2677903	NM_000534.5(PMS1):c.2434C>T (p.Arg812Cys)	PMS1 (R611C +5 more)	Single nucleotide variant (missense variant +1 more)	PMS1-related breast cancer	GUncertain significance
Select item 2620169	NM_000534.5(PMS1):c.507A>G (p.Ile169Met)	PMS1 (I108M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2611961	NM_000534.5(PMS1):c.1162A>C (p.Ile388Leu)	PMS1 (I388L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596989	NM_000534.5(PMS1):c.1352C>T (p.Thr451Met)	PMS1 (T275M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2581027	NM_000534.5(PMS1):c.793C>T (p.Arg265Ter)	PMS1 (R204* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2580959	NM_000534.5(PMS1):c.1258del (p.His420fs)	PMS1 (H244fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2548049	NM_000534.5(PMS1):c.1798G>A (p.Asp600Asn)	PMS1 (D424N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543035	NM_000534.5(PMS1):c.2101T>G (p.Phe701Val)	PMS1 (F662V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536902	NM_000534.5(PMS1):c.1030A>G (p.Asn344Asp)	PMS1 (N305D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534081	NM_000534.5(PMS1):c.2303C>T (p.Pro768Leu)	PMS1 (P768L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445388	NM_000534.5(PMS1):c.2780A>G (p.Tyr927Cys)	PMS1 (Y726C +5 more)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GLikely pathogenic
Select item 2445260	NM_000534.5(PMS1):c.1427A>G (p.Asp476Gly)	PMS1 (D300G +3 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2445258	NM_000534.5(PMS1):c.1145A>C (p.Asn382Thr)	PMS1 (N206T +3 more)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GBenign
Select item 2445257	NM_000534.5(PMS1):c.677A>C (p.Gln226Pro)	PMS1 (Q165P +2 more)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GBenign
Select item 2445254	NM_000534.5(PMS1):c.2230G>A (p.Val744Ile)	PMS1 (V568I +3 more)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GBenign
Select item 2445251	NM_000534.5(PMS1):c.1603A>G (p.Ile535Val)	PMS1 (I359V +3 more)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GBenign
Select item 2445237	NM_000534.5(PMS1):c.2338G>A (p.Glu780Lys)	PMS1 (E604K +3 more)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GBenign
Select item 2424635	NC_000002.11:g.(?_189839216)_(192012929_?)dup	ANKAR, ASNSD1 +17 more	Duplication	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GUncertain significance
Select item 2356108	NM_000534.5(PMS1):c.868C>T (p.Arg290Cys)	PMS1 (R114C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325248	NM_000534.5(PMS1):c.1466A>T (p.Asn489Ile)	PMS1 (N489I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317281	NM_000534.5(PMS1):c.1357T>A (p.Tyr453Asn)	PMS1 (Y414N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311958	NM_000534.5(PMS1):c.587T>C (p.Val196Ala)	PMS1 (V135A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295490	NM_000534.5(PMS1):c.2788G>C (p.Glu930Gln)	PMS1 (E729Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289358	NM_000534.5(PMS1):c.2665C>G (p.Pro889Ala)	PMS1 (P688A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275915	NM_000534.5(PMS1):c.2430T>G (p.Asp810Glu)	PMS1 (D634E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273461	NM_000534.5(PMS1):c.1334C>T (p.Ser445Leu)	PMS1 (S406L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263743	NM_000534.5(PMS1):c.661A>G (p.Asn221Asp)	PMS1 (N221D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254370	NM_000534.5(PMS1):c.2195T>C (p.Phe732Ser)	PMS1 (F693S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243047	NM_000534.5(PMS1):c.2099C>T (p.Pro700Leu)	PMS1 (P639L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1338720	NM_000534.5(PMS1):c.224C>T (p.Thr75Ile)	PMS1 (T75I)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1338580	NM_000534.5(PMS1):c.1220T>G (p.Leu407Ter)	PMS1 (L231* +3 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 1337851	NM_000534.5(PMS1):c.928T>G (p.Leu310Val)	PMS1 (L134V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1337793	NM_000534.5(PMS1):c.2146G>A (p.Val716Ile)	PMS1 (V540I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1337613	NM_000534.5(PMS1):c.*14AGA[1]	PMS1	Microsatellite (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1337358	NM_000534.5(PMS1):c.2612G>A (p.Arg871His)	PMS1 (R670H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1336689	NM_000534.5(PMS1):c.1072A>G (p.Ile358Val)	PMS1 (I182V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1292649	NC_000002.12:g.189783989C>A	ORMDL1, PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1292404	NM_000534.5(PMS1):c.-21+76T>C	PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1292222	NM_000534.5(PMS1):c.-24G>C	PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1292217	NC_000002.12:g.189784312C>T	ORMDL1, PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1283830	NM_000534.5(PMS1):c.700-23C>A	PMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283805	NM_000534.5(PMS1):c.419-111G>C	PMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275917	NM_000534.5(PMS1):c.-21+74G>A	PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1274521	NM_000534.5(PMS1):c.315+6G>A	PMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259406	NM_000534.5(PMS1):c.582+49_582+52dup	PMS1	Duplication (intron variant)	not provided	GBenign
Select item 1253116	NC_000002.12:g.189783950A>G	ORMDL1, PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1248274	NC_000002.12:g.189783978G>C	ORMDL1, PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1232362	NM_000534.5(PMS1):c.822+125T>C	PMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228794	NM_000534.5(PMS1):c.*10T>A	PMS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1228750	NM_000534.5(PMS1):c.418+70dup	PMS1 (L164fs)	Duplication (intron variant +1 more)	not provided	GBenign
Select item 1221371	NM_000534.5(PMS1):c.-100G>T	PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1182485	NM_000534.5(PMS1):c.419-92A>G	PMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1050127	NM_000534.5(PMS1):c.1075G>A (p.Val359Ile)	PMS1 (V183I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1049777	NM_000534.5(PMS1):c.500A>G (p.Asp167Gly)	PMS1 (D106G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 998151	NM_000534.5(PMS1):c.2766del (p.His923fs)	PMS1 (H722fs +5 more)	Deletion (frameshift variant +1 more)	Colorectal cancer	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 981855	NM_000534.5(PMS1):c.1039G>A (p.Glu347Lys)	PMS1 (E171K +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 930948	NM_000534.5(PMS1):c.440G>A (p.Arg147Lys)	PMS1 (R86K +1 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GUncertain significance
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 740367	NM_000534.5(PMS1):c.2661A>G (p.Gln887=)	PMS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 737475	NM_000534.5(PMS1):c.1018T>C (p.Leu340=)	PMS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 733255	NM_000534.5(PMS1):c.2106T>A (p.Ser702=)	PMS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 730432	NM_000534.5(PMS1):c.2283T>C (p.Leu761=)	PMS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 722543	NM_000534.5(PMS1):c.316-8T>C	PMS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 708165	NM_000534.5(PMS1):c.175G>A (p.Glu59Lys)	PMS1 (E59K)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 599335	NM_000534.5(PMS1):c.985C>G (p.Leu329Val)	PMS1 (L329V +3 more)	Single nucleotide variant (missense variant +1 more)	Polyp of colon	GUncertain significance
Select item 599334	NM_000534.5(PMS1):c.79G>C (p.Glu27Gln)	PMS1 (E27Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 523375	NM_000534.5(PMS1):c.1241G>A (p.Gly414Asp)	PMS1 (G414D +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal carcinoma	GUncertain significance
Select item 488894	NM_000534.5(PMS1):c.829C>T (p.Arg277Ter)	PMS1 (R277* +3 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 393963	GRCh37/hg19 2q32.2(chr2:190632763-190728606)x1	ORMDL1, PMS1	Copy number loss	See cases	GUncertain significance
Select item 369322	NC_000002.12:g.189784079G>T	ORMDL1, PMS1	Single nucleotide variant (intron variant)	Lynch syndrome +1 more	GBenign/Likely benign
Select item 333209	NM_000534.5(PMS1):c.1586G>A (p.Ser529Asn)	PMS1 (S529N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 333204	NM_000534.5(PMS1):c.345T>C (p.Asp115=)	PMS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign

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