5378[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	LOC129935258, LOC129935259 +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	LOC129935268, LOC129935269 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 1253116	NM_016467.5(ORMDL1):c.-118+319T>C	ORMDL1, PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1248274	NM_016467.5(ORMDL1):c.-118+291C>G	ORMDL1, PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1292649	NM_016467.5(ORMDL1):c.-118+280G>T	ORMDL1, PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 369322	NM_016467.5(ORMDL1):c.-118+190C>A	ORMDL1, PMS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1292217	NM_016467.5(ORMDL1):c.-161G>A	ORMDL1, PMS1	Single nucleotide variant (5 prime UTR 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 1292222	NM_000534.5(PMS1):c.-24G>C	PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	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 1292404	NM_000534.5(PMS1):c.-21+76T>C	PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 599334	NM_000534.5(PMS1):c.79G>C (p.Glu27Gln)	PMS1 (E27Q)	Single nucleotide variant (missense variant +2 more)	Polyp of colon	GUncertain significance
Select item 333200	NM_000534.5(PMS1):c.141T>C (p.Tyr47=)	PMS1	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 333202	NM_000534.5(PMS1):c.174G>T (p.Gly58=)	PMS1	Single nucleotide variant (synonymous variant +3 more)	PMS1-related condition +1 more	GBenign
Select item 135041	NM_000534.5(PMS1):c.174_175delinsTA (p.Glu59Lys)	PMS1 (E59K)	Indel (missense variant +3 more)	not specified	Gnot provided
Select item 708165	NM_000534.5(PMS1):c.175G>A (p.Glu59Lys)	PMS1 (E59K)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GBenign/Likely benign
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 135042	NM_000534.5(PMS1):c.287C>G (p.Ala96Gly)	PMS1 (A96G)	Single nucleotide variant (missense variant +3 more)	Ovarian cancer	GLikely pathogenic
Select item 1274521	NM_000534.5(PMS1):c.315+6G>A	PMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 722543	NM_000534.5(PMS1):c.316-8T>C	PMS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 135043	NM_000534.5(PMS1):c.329C>G (p.Thr110Arg)	PMS1 (T110R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 333204	NM_000534.5(PMS1):c.345T>C (p.Asp115=)	PMS1	Single nucleotide variant (synonymous variant +2 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 3058885	NM_000534.5(PMS1):c.418+70del	PMS1 (K163fs)	Deletion (frameshift variant +1 more)	PMS1-related condition	GLikely benign
Select item 133375	NM_000534.5(PMS1):c.418+78G>A	PMS1 (G166S)	Single nucleotide variant (missense variant +1 more)	PMS1-related condition	GLikely benign
Select item 1283805	NM_000534.5(PMS1):c.419-111G>C	PMS1	Single nucleotide variant (intron variant)	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 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 135044	NM_000534.5(PMS1):c.492dup (p.Cys165fs)	PMS1 (C104fs +1 more)	Duplication (frameshift variant +2 more)	not specified	Gnot provided
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 2620169	NM_000534.5(PMS1):c.507A>G (p.Ile169Met)	PMS1 (I108M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 135045	NM_000534.5(PMS1):c.575A>G (p.His192Arg)	PMS1 (H192R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 1259406	NM_000534.5(PMS1):c.582+49_582+52dup	PMS1	Duplication (intron variant)	not provided	GBenign
Select item 152531	GRCh38/hg38 2q32.2(chr2:189828954-189853926)x1	PMS1	Copy number loss	See cases	GPathogenic
Select item 2311958	NM_000534.5(PMS1):c.587T>C (p.Val196Ala)	PMS1 (V135A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 135046	NM_000534.5(PMS1):c.605G>A (p.Arg202Lys)	PMS1 (R202K +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2263743	NM_000534.5(PMS1):c.661A>G (p.Asn221Asp)	PMS1 (N221D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1283830	NM_000534.5(PMS1):c.700-23C>A	PMS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1232362	NM_000534.5(PMS1):c.822+125T>C	PMS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2356108	NM_000534.5(PMS1):c.868C>T (p.Arg290Cys)	PMS1 (R114C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 135052	NM_000534.5(PMS1):c.1001C>T (p.Thr334Met)	PMS1 (T334M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
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 2536902	NM_000534.5(PMS1):c.1030A>G (p.Asn344Asp)	PMS1 (N305D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 2611961	NM_000534.5(PMS1):c.1162A>C (p.Ile388Leu)	PMS1 (I388L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 135057	NM_000534.5(PMS1):c.1181T>C (p.Met394Thr)	PMS1 (M394T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 2580959	NM_000534.5(PMS1):c.1258del (p.His420fs)	PMS1 (H244fs +3 more)	Deletion (frameshift variant +1 more)	not provided	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2445260	NM_000534.5(PMS1):c.1427A>G (p.Asp476Gly)	PMS1 (D300G +3 more)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GBenign
Select item 135053	NM_000534.5(PMS1):c.1436G>C (p.Gly479Ala)	PMS1 (G479A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 2325248	NM_000534.5(PMS1):c.1466A>T (p.Asn489Ile)	PMS1 (N489I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 135054	NM_000534.5(PMS1):c.1501G>A (p.Gly501Arg)	PMS1 (G501R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 135055	NM_000534.5(PMS1):c.1609G>A (p.Glu537Lys)	PMS1 (E537K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 135051	NM_000534.5(PMS1):c.1643A>G (p.Lys548Arg)	PMS1 (K548R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 135056	NM_000534.5(PMS1):c.1744G>A (p.Val582Ile)	PMS1 (V582I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2548049	NM_000534.5(PMS1):c.1798G>A (p.Asp600Asn)	PMS1 (D424N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 135059	NM_000534.5(PMS1):c.1888C>T (p.Arg630Ter)	PMS1 (R630* +3 more)	Single nucleotide variant (nonsense +2 more)	PMS1-related breast cancer	GUncertain significance
Select item 135058	NM_000534.5(PMS1):c.1895A>G (p.Asn632Ser)	PMS1 (N632S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GLikely benign
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 135061	NM_000534.5(PMS1):c.2058T>G (p.Ile686Met)	PMS1 (I686M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 2243047	NM_000534.5(PMS1):c.2099C>T (p.Pro700Leu)	PMS1 (P639L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
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 1337793	NM_000534.5(PMS1):c.2146G>A (p.Val716Ile)	PMS1 (V540I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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)	Inborn genetic diseases	GUncertain significance
Select item 135060	NM_000534.5(PMS1):c.2219C>T (p.Ser740Phe)	PMS1 (S740F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
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 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 2534081	NM_000534.5(PMS1):c.2303C>T (p.Pro768Leu)	PMS1 (P768L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 135050	NM_000534.5(PMS1):c.2377T>G (p.Tyr793Asp)	PMS1 (Y793D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 135049	NM_000534.5(PMS1):c.2377T>C (p.Tyr793His)	PMS1 (Y793H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 135047	NM_000534.5(PMS1):c.2417C>G (p.Thr806Ser)	PMS1 (T806S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2275915	NM_000534.5(PMS1):c.2430T>G (p.Asp810Glu)	PMS1 (D634E +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 135048	NM_000534.5(PMS1):c.2470C>A (p.Pro824Thr)	PMS1 (P824T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
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

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