5395[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	LOC123924897, LOC123924898 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	ACTB, AIMP2 +137 more	Copy number loss	See cases	GPathogenic
Select item 150142	GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3	ACTB, AIMP2 +120 more	Copy number gain	See cases	GLikely pathogenic
Select item 149767	GRCh38/hg38 7p22.1(chr7:5331115-6340621)x3	RNF216-IT1, RSPH10B +78 more	Copy number gain	See cases	GUncertain significance
Select item 58509	GRCh38/hg38 7p22.1(chr7:5331115-6031221)x1	ACTB, AIMP2 +63 more	Copy number loss	See cases	GPathogenic
Select item 146565	GRCh38/hg38 7p22.1(chr7:5448387-6276950)x1	ACTB, AIMP2 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	LOC129997985, LOC129997986 +560 more	Copy number gain	See cases	GPathogenic
Select item 1696458	Single allele	AIMP2, CCZ1 +14 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 152010	GRCh38/hg38 7p22.1(chr7:5905831-5981100)x3	CCZ1, LOC106783574 +2 more	Copy number gain	See cases	GLikely benign
Select item 151061	GRCh38/hg38 7p22.1(chr7:5905831-6014161)x3	AIMP2, CCZ1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 91387	NM_000535.5(PMS2):c.989-?_(*160_?)del	PMS2	Deletion	Lynch syndrome	GPathogenic
Select item 91378	NM_000535.5(PMS2):c.904-?_(*160_?)del	PMS2	Deletion	Lynch syndrome	GPathogenic
Select item 91353	NM_000535.5(PMS2):c.354-?_(*160_?)del	PMS2	Deletion	Lynch syndrome	GPathogenic
Select item 360540	NM_000535.7(PMS2):c.*107A>G	PMS2	Single nucleotide variant (3 prime UTR variant +1 more)	Lynch syndrome 4	GLikely benign
Select item 2682828	NM_000535.7(PMS2):c.2174+1133_*93del	PMS2	Deletion (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 91278	NM_000535.7(PMS2):c.*92dup	PMS2	Duplication (3 prime UTR variant +1 more)	Lynch syndrome	GBenign
Select item 91277	NM_000535.7(PMS2):c.*17G>C	PMS2	Single nucleotide variant (3 prime UTR variant +1 more)	Lynch syndrome	GBenign
Select item 378391	NM_000535.7(PMS2):c.*14A>G	PMS2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1019510	NM_000535.7(PMS2):c.2589_*12del (p.Ter863CysextTer?)	PMS2	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 656821	NC_000007.13:g.(?_6013020)_(6022632_?)dup	PMS2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 654112	NC_000007.14:g.(?_5973389)_(5973552_?)del	PMS2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 648932	NM_000535.5(PMS2):c.904-10_*10del	PMS2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 583516	NC_000007.14:g.(?_5973389)_(5983001_?)del	PMS2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2575463	NM_000535.7(PMS2):c.*8C>T	PMS2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 455087	NC_000007.13:g.(?_6013024)_(6022628_?)dup	PMS2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 455086	NC_000007.14:g.(?_5973393)_(5982997_?)del	PMS2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455085	NC_000007.14:g.(?_5973393)_(5973548_?)del	PMS2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2682042	NM_000535.7(PMS2):c.*5A>G	PMS2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1050117	NM_000535.7(PMS2):c.2445+1601_*3del	PMS2	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 1049466	NM_000535.7(PMS2):c.2446-170_*3del	PMS2	Deletion (splice acceptor variant)	Endometrial carcinoma	GPathogenic
Select item 486046	NM_000535.7(PMS2):c.*3G>T	PMS2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 480346	NM_000535.7(PMS2):c.*3G>C	PMS2	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 185828	NM_000535.7(PMS2):c.*3G>A	PMS2	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2774116	NM_000535.7(PMS2):c.*2C>G	PMS2	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1050527	NM_000535.7(PMS2):c.2446-440_*2del	PMS2	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 1049762	NM_000535.7(PMS2):c.2445+1763_*2del	PMS2	Deletion (splice acceptor variant)	Endometrial carcinoma	GPathogenic
Select item 187618	NM_000535.7(PMS2):c.*2C>T	PMS2	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 961101	NM_000535.7(PMS2):c.2589A>G (p.Ter863Trp)	PMS2	Single nucleotide variant (stop lost +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 434031	NM_000535.7(PMS2):c.2446_2589del (p.Val816_Ter863del)	PMS2	Deletion (stop lost +2 more)	not provided	GPathogenic
Select item 525654	NM_000535.7(PMS2):c.2588G>T (p.Ter863Leu)	PMS2	Single nucleotide variant (stop lost +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1793444	NM_000535.7(PMS2):c.2587T>C (p.Ter863Arg)	PMS2	Single nucleotide variant (stop lost +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 411040	NM_000535.7(PMS2):c.2587T>G (p.Ter863Gly)	PMS2	Single nucleotide variant (stop lost +1 more)	Lynch syndrome 4 +3 more	GUncertain significance
Select item 1083953	NM_000535.7(PMS2):c.2586C>T (p.Asn862=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 484317	NM_000535.7(PMS2):c.2586C>G (p.Asn862Lys)	PMS2 (N862K +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1479314	NM_000535.7(PMS2):c.2585A>G (p.Asn862Ser)	PMS2 (N671S +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2158374	NM_000535.7(PMS2):c.2582A>G (p.Gln861Arg)	PMS2 (Q460R +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1150417	NM_000535.7(PMS2):c.2580T>G (p.Ser860=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 1793338	NM_000535.7(PMS2):c.2579C>T (p.Ser860Phe)	PMS2 (S669F +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 645847	NM_000535.7(PMS2):c.2579C>G (p.Ser860Cys)	PMS2 (S549C +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1793327	NM_000535.7(PMS2):c.2577T>G (p.Ile859Met)	PMS2 (I548M +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1793314	NM_000535.7(PMS2):c.2576T>C (p.Ile859Thr)	PMS2 (I548T +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	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 127787	NM_000535.7(PMS2):c.2575A>G (p.Ile859Val)	PMS2 (I859V +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2698294	NM_000535.7(PMS2):c.2570_2574delinsCTGTG (p.Gly857Ala)	PMS2 (G546A +28 more)	Indel (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 1793287	NM_000535.7(PMS2):c.2574C>A (p.Val858=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1095871	NM_000535.7(PMS2):c.2574C>T (p.Val858=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 480327	NM_000535.7(PMS2):c.2572G>A (p.Val858Ile)	PMS2 (V858I +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1793253	NM_000535.7(PMS2):c.2571T>C (p.Gly857=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1366688	NM_000535.7(PMS2):c.2569_2570inv (p.Gly857Pro)	PMS2 (G722P +9 more)	Inversion (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 455705	NM_000535.7(PMS2):c.2570G>T (p.Gly857Val)	PMS2 (G857V +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 36691	NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)	PMS2 (G857A +9 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 1793202	NM_000535.7(PMS2):c.2569G>T (p.Gly857Cys)	PMS2 (G695C +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1388437	NM_000535.7(PMS2):c.2569G>A (p.Gly857Ser)	PMS2 (G546S +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 484328	NM_000535.7(PMS2):c.2569G>C (p.Gly857Arg)	PMS2 (G857R +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2682045	NM_000535.7(PMS2):c.2567T>C (p.Leu856Pro)	PMS2 (L455P +28 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 142260	NM_000535.7(PMS2):c.2567T>G (p.Leu856Arg)	PMS2 (L856R +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 1793172	NM_000535.7(PMS2):c.2566C>A (p.Leu856Met)	PMS2 (L685M +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 701564	NM_000535.7(PMS2):c.2566C>T (p.Leu856=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 220363	NM_000535.7(PMS2):c.2565C>T (p.Asn855=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 1318685	NM_000535.7(PMS2):c.2564A>G (p.Asn855Ser)	PMS2 (N544S +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 418619	NM_000535.7(PMS2):c.2563A>G (p.Asn855Asp)	PMS2 (N855D +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1661263	NM_000535.7(PMS2):c.2562C>G (p.Ala854=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely benign
Select item 416562	NM_000535.7(PMS2):c.2562C>T (p.Ala854=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1793119	NM_000535.7(PMS2):c.2561C>A (p.Ala854Asp)	PMS2 (A543D +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821481	NM_000535.7(PMS2):c.2561C>T (p.Ala854Val)	PMS2 (A543V +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 568710	NM_000535.7(PMS2):c.2560G>T (p.Ala854Ser)	PMS2 (A854S +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 230492	NM_000535.7(PMS2):c.2560G>C (p.Ala854Pro)	PMS2 (A854P +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 230486	NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr)	PMS2 (A854T +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 2774117	NM_000535.7(PMS2):c.2559C>A (p.Ile853=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 184059	NM_000535.7(PMS2):c.2559C>T (p.Ile853=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 142688	NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)	PMS2 (I853M +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 1793011	NM_000535.7(PMS2):c.2556_2557del (p.Ile853fs)	PMS2 (I747fs +9 more)	Microsatellite (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1380156	NM_000535.7(PMS2):c.2557A>G (p.Ile853Val)	PMS2 (I666V +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1390657	NM_000535.7(PMS2):c.2555dup (p.His852fs)	PMS2 (H746fs +9 more)	Duplication (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1041782	NM_000535.7(PMS2):c.2556C>A (p.His852Gln)	PMS2 (H717Q +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 821485	NM_000535.7(PMS2):c.2556C>G (p.His852Gln)	PMS2 (H665Q +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 751374	NM_000535.7(PMS2):c.2556C>T (p.His852=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1793006	NM_000535.7(PMS2):c.2555del (p.His852fs)	PMS2 (H665fs +9 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1792991	NM_000535.7(PMS2):c.2554C>A (p.His852Asn)	PMS2 (H541N +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 455704	NM_000535.7(PMS2):c.2554C>T (p.His852Tyr)	PMS2 (H852Y +9 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +3 more	GUncertain significance

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