999[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 59994	GRCh38/hg38 16q22.1(chr16:68611956-68888428)x3	CDH1, CDH3 +39 more	Copy number gain	See cases	GUncertain significance
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 2646664	NC_000016.10:g.68722497C>G	CDH1, CDH3	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 1257517	NC_000016.10:g.68736963C>A	CDH1	Single nucleotide variant	not provided	GBenign
Select item 2681855	NM_004360.4(CDH1):c.-294A>G	CDH1	Single nucleotide variant	not provided	GBenign
Select item 371894	NM_004360.4(CDH1):c.-288del	CDH1	Deletion	not provided +1 more	GConflicting classifications of pathogenicity
Select item 12247	NM_004360.4(CDH1):c.-124-161C>A	CDH1	Single nucleotide variant	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 1330012	NM_004360.4(CDH1):c.-276T>C	CDH1	Single nucleotide variant	not specified	GBenign
Select item 676637	NM_004360.3(CDH1):c.-197A>C	CDH1	Single nucleotide variant	not provided	GLikely benign
Select item 2503033	NC_000016.10:g.(?_68737292)_(68835537_?)del	CDH1, LOC112486201 +24 more	Deletion	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 2503030	NC_000016.10:g.(?_68737292)_(68738411_?)del	CDH1, LOC130059290	Deletion	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 2503027	NC_000016.10:g.(?_68737292)_(68737463_?)del	CDH1, LOC130059290	Deletion	Hereditary diffuse gastric adenocarcinoma	GLikely pathogenic
Select item 417390	NC_000016.10:g.(?_68737292)_(68738411_?)del	LOC130059290, CDH1	Deletion	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 417388	NC_000016.10:g.(?_68737292)_(68835541_?)del	LOC130059296, LOC130059297 +24 more	Deletion	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 239871	NM_004360.4(CDH1):c.-124-?_*2042+?dup4815	LOC112486201, LOC128772402 +24 more	Duplication	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 492675	NM_004360.5(CDH1):c.-84G>A	CDH1	Single nucleotide variant (5 prime UTR variant)	Malignant tumor of prostate +1 more	GLikely benign
Select item 560828	NM_004360.5(CDH1):c.-73CTCCAGCCCG[1]	CDH1, LOC130059290	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 2579700	NM_004360.5(CDH1):c.-72T>C	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 221174	NM_004360.5(CDH1):c.-71C>G	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 885853	NM_004360.5(CDH1):c.-63C>A	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GConflicting classifications of pathogenicity
Select item 803263	NM_004360.5(CDH1):c.-57C>T	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GLikely benign
Select item 221181	NM_004360.5(CDH1):c.-54G>C	LOC130059290, CDH1	Single nucleotide variant (5 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma +1 more	GBenign/Likely benign
Select item 419385	NM_004360.5(CDH1):c.-58GCCCG[3]	CDH1, LOC130059290	Microsatellite (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 182374	NM_004360.5(CDH1):c.-50CGACC[3]	LOC130059290, CDH1	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 422227	NM_004360.5(CDH1):c.-50C>T	LOC130059290, CDH1	Single nucleotide variant (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 234282	NM_004360.5(CDH1):c.-50C>G	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 239872	NM_004360.5(CDH1):c.-49G>T	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma +1 more	GBenign/Likely benign
Select item 423008	NM_004360.5(CDH1):c.-47C>T	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 421431	NM_004360.5(CDH1):c.-45C>T	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 279744	NM_004360.5(CDH1):c.-44G>A	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma +1 more	GUncertain significance
Select item 182387	NM_004360.5(CDH1):c.-41C>A	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 380859	NM_004360.5(CDH1):c.-40G>A	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 385884	NM_004360.5(CDH1):c.-39C>T	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 380334	NM_004360.5(CDH1):c.-37C>A	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 234740	NM_004360.5(CDH1):c.-36C>T	LOC130059290, CDH1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 509746	NM_004360.5(CDH1):c.-33G>T	LOC130059290, CDH1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 377636	NM_004360.5(CDH1):c.-32C>G	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 384067	NM_004360.5(CDH1):c.-29C>G	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 182365	NM_004360.5(CDH1):c.-26C>T	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 182366	NM_004360.5(CDH1):c.-24C>G	LOC130059290, CDH1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 182388	NM_004360.5(CDH1):c.-22C>A	LOC130059290, CDH1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 379857	NM_004360.5(CDH1):c.-21G>C	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3076086	NM_004360.5(CDH1):c.-20C>T	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 127904	NM_004360.5(CDH1):c.-18C>T	LOC130059290, CDH1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 928191	NM_004360.5(CDH1):c.-17G>C	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 629093	NM_004360.5(CDH1):c.-15C>G	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076085	NM_004360.5(CDH1):c.-11C>T	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3046276	NM_004360.5(CDH1):c.-10C>A	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	CDH1-related disorder	GLikely benign
Select item 920396	NM_004360.5(CDH1):c.-10C>G	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 653530	NC_000016.10:g.(?_68737406)_(68833509_?)del	CDH1, LOC112486201 +24 more	Deletion	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 646954	NC_000016.9:g.(?_68771309)_(68772324_?)dup	CDH1, LOC130059290	Duplication	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 584183	NC_000016.9:g.(?_68771309)_(68867412_?)dup	CDH1, LOC112486201 +24 more	Duplication	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 583823	NC_000016.10:g.(?_68737406)_(68738421_?)del	CDH1, LOC130059290	Deletion	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 3048835	NM_004360.5(CDH1):c.-9C>A	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	CDH1-related disorder	GLikely benign
Select item 142314	NM_004360.5(CDH1):c.-9C>T	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 633149	NM_004360.5(CDH1):c.-8G>A	CDH1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 560829	NM_004360.5(CDH1):c.-8G>T	CDH1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 517866	NM_004360.5(CDH1):c.-8G>C	CDH1	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3076087	NM_004360.5(CDH1):c.-7G>A	CDH1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 463684	NC_000016.9:g.(?_68771313)_(68772320_?)dup	CDH1	Duplication	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 421101	NM_004360.5(CDH1):c.-6C>T	CDH1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 628145	NM_004360.5(CDH1):c.-2C>T	CDH1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2493701	NM_004360.5(CDH1):c.-1C>T	CDH1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1784189	NM_004360.5(CDH1):c.-1C>G	CDH1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2035285	NM_004360.5(CDH1):c.1A>T (p.Met1Leu)	CDH1 (M1L)	Single nucleotide variant (missense variant +2 more)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 532457	NM_004360.5(CDH1):c.1A>G (p.Met1Val)	CDH1 (M1V)	Single nucleotide variant (missense variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 1292057	NM_004360.5(CDH1):c.2T>A (p.Met1Lys)	CDH1 (M1K)	Single nucleotide variant (missense variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 532474	NM_004360.5(CDH1):c.2T>G (p.Met1Arg)	CDH1 (M1R)	Single nucleotide variant (missense variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 486826	NM_004360.5(CDH1):c.2T>C (p.Met1Thr)	CDH1 (M1T)	Single nucleotide variant (missense variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 239906	NM_004360.5(CDH1):c.3G>A (p.Met1Ile)	CDH1 (M1I)	Single nucleotide variant (missense variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 2826614	NM_004360.5(CDH1):c.4G>C (p.Gly2Arg)	CDH1 (G2R)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 183998	NM_004360.5(CDH1):c.4G>A (p.Gly2Ser)	CDH1 (G2S)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 631262	NM_004360.5(CDH1):c.5G>A (p.Gly2Asp)	CDH1 (G2D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 239909	NM_004360.5(CDH1):c.5G>T (p.Gly2Val)	CDH1 (G2V)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 184107	NM_004360.5(CDH1):c.6C>T (p.Gly2=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 629094	NM_004360.5(CDH1):c.7C>A (p.Pro3Thr)	CDH1 (P3T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 418111	NM_004360.5(CDH1):c.7C>T (p.Pro3Ser)	CDH1 (P3S)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 142469	NM_004360.5(CDH1):c.8C>G (p.Pro3Arg)	CDH1 (P3R)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 1768945	NM_004360.5(CDH1):c.9T>A (p.Pro3=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 463799	NM_004360.5(CDH1):c.9T>C (p.Pro3=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary diffuse gastric adenocarcinoma +1 more	GLikely benign
Select item 1719790	NM_004360.5(CDH1):c.10T>G (p.Trp4Gly)	CDH1 (W4G)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 1747171	NM_004360.5(CDH1):c.11G>T (p.Trp4Leu)	CDH1 (W4L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 918853	NM_004360.5(CDH1):c.11G>A (p.Trp4Ter)	CDH1 (W4*)	Single nucleotide variant (nonsense +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 2577652	NM_004360.5(CDH1):c.12G>C (p.Trp4Cys)	CDH1 (W4C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 548782	NM_004360.5(CDH1):c.12G>A (p.Trp4Ter)	CDH1 (W4*)	Single nucleotide variant (nonsense +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 2561294	NM_004360.5(CDH1):c.13A>C (p.Ser5Arg)	CDH1 (S5R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 463713	NM_004360.5(CDH1):c.13A>G (p.Ser5Gly)	CDH1 (S5G)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +1 more	GUncertain significance
Select item 2438939	NM_004360.5(CDH1):c.15_27del (p.Ser5fs)	CDH1 (S5fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 855406	NM_004360.5(CDH1):c.14G>A (p.Ser5Asn)	CDH1 (S5N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1776136	NM_004360.5(CDH1):c.15C>G (p.Ser5Arg)	CDH1 (S5R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 184111	NM_004360.5(CDH1):c.15C>T (p.Ser5=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1349815	NM_004360.5(CDH1):c.16C>A (p.Arg6Ser)	CDH1 (R6S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance

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