7329[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 153532	GRCh38/hg38 2p21-16.3(chr2:46415109-48203207)x3	LOC129933708, LOC129933709 +104 more	Copy number gain	See cases	GUncertain significance
Select item 144457	GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1	BCYRN1, CALM2 +94 more	Copy number loss	See cases	GPathogenic
Select item 150869	GRCh38/hg38 2p21-16.3(chr2:47089663-48479681)x3	BCYRN1, CALM2 +60 more	Copy number gain	See cases	GLikely pathogenic
Select item 654100	NC_000002.11:g.(?_47596635)_(48034009_?)dup	EPCAM, KCNK12 +19 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 152843	GRCh38/hg38 2p16.3(chr2:47663853-47785728)x1	LOC129933700, LOC129933701 +9 more	Copy number loss	See cases	GPathogenic
Select item 89156	NM_000179.2(MSH6):c.-11863_457+1921del	LOC129933705, LOC129933708 +3 more	Deletion	Lynch syndrome	GPathogenic
Select item 89161	NM_000179.2(MSH6):c.-3097_457+2010del	LOC129933705, LOC129933706 +3 more	Deletion	Lynch syndrome	GPathogenic
Select item 89163	NM_000179.2(MSH6):c.-557T>G	MSH6	Single nucleotide variant	Lynch syndrome	GBenign
Select item 89162	NM_000179.2(MSH6):c.-448G>A	LOC129933706, MSH6	Single nucleotide variant	Lynch syndrome	GBenign
Select item 1191613	NC_000002.12:g.47782889G>T	LOC129933706, MSH6	Single nucleotide variant	not provided	GLikely benign
Select item 1205129	NC_000002.12:g.47782946C>T	LOC129933706, MSH6	Single nucleotide variant	not provided	GLikely benign
Select item 89160	NM_000179.2(MSH6):c.-210C>T	LOC129933706, MSH6	Single nucleotide variant	Lynch syndrome	GBenign
Select item 89158	NM_000179.2(MSH6):c.-159C>T	LOC129933706, MSH6	Single nucleotide variant	Lynch syndrome	GBenign
Select item 417523	NC_000002.11:g.(?_48010221)_(48032166_?)dup	LOC129933706, LOC129933707 +2 more	Duplication	Lynch syndrome	GUncertain significance
Select item 417522	NC_000002.11:g.(?_48010221)_(48010632_?)dup	LOC129933706, LOC129933707 +1 more	Duplication	Lynch syndrome	GUncertain significance
Select item 89150	NM_000179.2(MSH6):c.(?_-152)_457+?del	LOC129933706, LOC129933707 +2 more	Deletion	Lynch syndrome	GPathogenic
Select item 89149	NM_000179.2(MSH6):c.(?_-152)_(*93_?)del	LOC129933706, FBXO11 +3 more	Deletion	Lynch syndrome	GPathogenic
Select item 1765255	NM_000179.2(MSH6):c.-127_196dup323	LOC129933706, MSH6	Duplication (genic upstream transcript variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 336435	NM_000179.2(MSH6):c.-118G>A	LOC129933706, MSH6	Single nucleotide variant	Lynch syndrome 5 +1 more	GLikely benign
Select item 336436	NM_000179.3(MSH6):c.-56G>T	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome 5	GUncertain significance
Select item 336437	NM_000179.3(MSH6):c.-51G>T	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome	GUncertain significance
Select item 386488	NM_000179.3(MSH6):c.-50C>G	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1200848	NM_000179.3(MSH6):c.-49T>G	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 508535	NM_000179.3(MSH6):c.-48T>A	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 381839	NM_000179.3(MSH6):c.-47T>C	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 385317	NM_000179.3(MSH6):c.-46T>G	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 391966	NM_000179.3(MSH6):c.-45A>T	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 378158	NM_000179.3(MSH6):c.-45A>G	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 418952	NM_000179.3(MSH6):c.-44G>T	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 336438	NM_000179.3(MSH6):c.-41G>T	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome 5	GUncertain significance
Select item 1245055	NM_000179.3(MSH6):c.-39T>C	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 380202	NM_000179.3(MSH6):c.-38C>G	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1221582	NM_000179.3(MSH6):c.-37C>T	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 379883	NM_000179.3(MSH6):c.-37C>A	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 512429	NM_000179.3(MSH6):c.-34C>T	MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 509283	NM_000179.3(MSH6):c.-34C>G	MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 387117	NM_000179.3(MSH6):c.-28G>C	MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 506408	NM_000179.3(MSH6):c.-26A>G	MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3256378	NM_000179.3(MSH6):c.-25C>G	MSH6	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 419137	NM_000179.3(MSH6):c.-25C>T	MSH6	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 234646	NM_000179.3(MSH6):c.-24G>A	MSH6	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 924812	NM_000179.3(MSH6):c.-20G>C	MSH6	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 491859	NM_000179.3(MSH6):c.-20G>T	MSH6	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 378159	NM_000179.3(MSH6):c.-19G>C	MSH6	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3076140	NM_000179.3(MSH6):c.-18G>A	MSH6	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 89159	NM_000179.3(MSH6):c.-18G>T	MSH6	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 929229	NM_000179.3(MSH6):c.-17C>G	MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GConflicting classifications of pathogenicity
Select item 491858	NM_000179.3(MSH6):c.-17C>T	MSH6	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 491857	NM_000179.3(MSH6):c.-16C>T	MSH6	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 420296	NM_000179.3(MSH6):c.-16C>A	MSH6	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 378160	NM_000179.3(MSH6):c.-14T>C	MSH6	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome +2 more	GLikely benign
Select item 1331929	NM_000179.3(MSH6):c.-13G>C	MSH6	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 925306	NM_000179.3(MSH6):c.-13G>A	MSH6	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 920116	NM_000179.3(MSH6):c.-12C>T	MSH6	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 381231	NM_000179.3(MSH6):c.-12C>G	MSH6	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2773624	NM_000179.3(MSH6):c.-11C>G	MSH6	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1050452	NM_000179.3(MSH6):c.-11C>A	MSH6	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome	GLikely benign
Select item 514112	NM_000179.3(MSH6):c.-9_-2dup	MSH6	Duplication (5 prime UTR variant)	not provided +2 more	GLikely benign
Select item 491856	NM_000179.3(MSH6):c.-11C>T	MSH6	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2682017	NM_000179.3(MSH6):c.-10G>A	MSH6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 665058	NC_000002.12:g.(?_47783224)_(47783503_?)del	LOC129933707, MSH6	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 663411	NC_000002.12:g.(?_47783224)_(47791133_?)del	LOC129933707, LOC129933708 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 662863	NC_000002.11:g.(?_48010363)_(48034009_?)dup	LOC129933707, LOC129933708 +1 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 584401	NC_000002.11:g.(?_48010363)_(48010642_?)dup	LOC129933707, MSH6	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 584300	NC_000002.12:g.(?_47783224)_(47806870_?)del	LOC129933707, LOC129933708 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 583930	NC_000002.11:g.(?_48010363)_(48018272_?)dup	LOC129933708, LOC129933707 +1 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 628020	NM_000179.3(MSH6):c.-9G>A	MSH6	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 89164	NM_000179.3(MSH6):c.-8C>T	MSH6	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 388545	NM_000179.3(MSH6):c.-7T>A	MSH6	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 630667	NM_000179.3(MSH6):c.-6G>A	MSH6	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 525998	NC_000002.11:g.(?_48010367)_(48034005_?)dup	LOC129933707, LOC129933708 +1 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 525970	NC_000002.12:g.(?_47783228)_(47806866_?)del	LOC129933707, LOC129933708 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455067	NC_000002.12:g.(?_47783228)_(47805033_?)del	LOC129933707, LOC129933708 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455066	NC_000002.12:g.(?_47783228)_(47791129_?)del	LOC129933707, LOC129933708 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455065	NC_000002.12:g.(?_47783228)_(47783499_?)del	LOC129933707, MSH6	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 371918	NM_000179.3(MSH6):c.-6G>C	MSH6	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 182674	NM_000179.3(MSH6):c.-6G>T	MSH6	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GBenign/Likely benign
Select item 1751019	NM_000179.3(MSH6):c.-5T>C	MSH6	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1736919	NM_000179.3(MSH6):c.-1_46del (p.Met1fs)	MSH6 (M1fs)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1049175	NM_000179.3(MSH6):c.-4_259del (p.Met1*)	LOC129933707, MSH6	Deletion	not provided	GUncertain significance
Select item 628371	NM_000179.3(MSH6):c.-4C>G	MSH6	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 491860	NM_000179.3(MSH6):c.-4C>T	MSH6	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 428422	NM_000179.3(MSH6):c.-4C>A	MSH6	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1736915	NM_000179.3(MSH6):c.-3G>T	MSH6	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 920731	NM_000179.3(MSH6):c.-3G>A	MSH6	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1050353	NM_000179.3(MSH6):c.-2_260+3387del	LOC129933707, LOC129933708 +1 more	Deletion (splice donor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1048851	NM_000179.3(MSH6):c.-2_261-3610del	LOC129933707, LOC129933708 +1 more	Deletion (splice donor variant +1 more)	not provided	GPathogenic
Select item 142219	NM_000179.3(MSH6):c.-2G>T	MSH6	Single nucleotide variant (5 prime UTR variant +2 more)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 1794929	NM_000179.3(MSH6):c.-1_6delinsACCT (p.Met1_Ser2delinsPro)	MSH6	Indel (initiator_codon_variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 386038	NM_000179.3(MSH6):c.-1T>C	MSH6	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 216041	NM_000179.2(MSH6):c.(?_-1)_457+?del	LOC129933707, LOC129933708 +1 more	Deletion	Lynch syndrome	GPathogenic
Select item 1517490	NM_000179.3(MSH6):c.1A>G (p.Met1Val)	MSH6 (M1V)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 2107348	NM_000179.3(MSH6):c.2T>C (p.Met1Thr)	MSH6 (M1T)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 483877	NM_000179.3(MSH6):c.3G>C (p.Met1Ile)	MSH6 (M1I)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 455314	NM_000179.3(MSH6):c.3del (p.Met1fs)	MSH6 (M1fs)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 232954	NM_000179.3(MSH6):c.3G>T (p.Met1Ile)	MSH6 (M1I)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 838014	NM_000179.3(MSH6):c.5C>T (p.Ser2Leu)	MSH6 (S2L)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity

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