3845[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	ABCC9, AEBP2 +133 more	Copy number loss	See cases	GLikely pathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic
Select item 308053	NM_033360.4(KRAS):c.*4643G>A	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308054	NM_033360.4(KRAS):c.*4619T>C	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 308055	NM_033360.4(KRAS):c.*4604G>A	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308056	NM_033360.4(KRAS):c.*4549G>C	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 308057	NM_033360.4(KRAS):c.*4432A>G	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308058	NM_033360.4(KRAS):c.4426_4427dup	KRAS	Duplication (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308059	NM_033360.4(KRAS):c.*4200T>A	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome and Noonan-related syndrome +1 more	GBenign/Likely benign
Select item 308060	NM_033360.4(KRAS):c.*4195G>A	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308062	NM_033360.4(KRAS):c.4186_4187del	KRAS	Deletion (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +1 more	GLikely benign
Select item 308061	NM_033360.4(KRAS):c.*4187del	KRAS	Deletion (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2642795	NM_004985.5(KRAS):c.*4059A>G	KRAS	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 308063	NM_033360.4(KRAS):c.*4036A>G	KRAS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 308064	NM_033360.4(KRAS):c.*4022A>C	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308065	NM_033360.4(KRAS):c.*3907A>G	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308066	NM_033360.4(KRAS):c.*3881A>C	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308067	NM_033360.4(KRAS):c.3875_3878del	KRAS	Deletion (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +1 more	GUncertain significance
Select item 308069	NM_033360.4(KRAS):c.3803_3804dup	KRAS	Duplication (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +1 more	GUncertain significance
Select item 308068	NM_033360.4(KRAS):c.*3804dup	KRAS	Duplication (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +1 more	GLikely benign
Select item 308070	NM_033360.4(KRAS):c.*3766A>G	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 308071	NM_033360.4(KRAS):c.*3672C>G	KRAS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 308072	NM_033360.4(KRAS):c.*3623T>A	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308073	NM_033360.4(KRAS):c.*3620C>T	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308074	NM_033360.4(KRAS):c.*3575T>C	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308075	NM_033360.4(KRAS):c.*3522T>A	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308076	NM_033360.4(KRAS):c.*3498C>T	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308077	NM_033360.4(KRAS):c.*3385del	KRAS	Deletion (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308078	NM_033360.4(KRAS):c.*3323T>C	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308079	NM_033360.4(KRAS):c.*3273G>A	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308080	NM_033360.4(KRAS):c.*3269C>T	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308081	NM_033360.4(KRAS):c.3092_3095del	KRAS	Deletion (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +1 more	GUncertain significance
Select item 308082	NM_033360.4(KRAS):c.*3009A>G	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308083	NM_033360.4(KRAS):c.*2815C>T	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome +1 more	GUncertain significance
Select item 308084	NM_033360.4(KRAS):c.*2626T>G	KRAS	Single nucleotide variant (3 prime UTR variant)	RASopathy +2 more	GBenign/Likely benign
Select item 308085	NM_033360.4(KRAS):c.*2605G>A	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308086	NM_033360.4(KRAS):c.*2577G>A	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308087	NM_033360.4(KRAS):c.*2492C>T	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308088	NM_033360.4(KRAS):c.*2446G>A	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308089	NM_033360.4(KRAS):c.*2400dup	KRAS	Duplication (3 prime UTR variant)	Noonan syndrome +1 more	GLikely benign
Select item 308090	NM_033360.4(KRAS):c.2391_2392insC	KRAS	Insertion (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +1 more	GUncertain significance
Select item 308091	NM_033360.4(KRAS):c.*2360A>G	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308092	NM_033360.4(KRAS):c.*2305A>G	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308093	NM_033360.4(KRAS):c.*2012T>C	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308094	NM_033360.4(KRAS):c.*1967del	KRAS	Deletion (3 prime UTR variant)	Noonan syndrome +1 more	GUncertain significance
Select item 308095	NM_033360.4(KRAS):c.*1893A>G	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308096	NM_033360.4(KRAS):c.*1886T>C	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308097	NM_033360.4(KRAS):c.*1831G>A	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308098	NM_033360.4(KRAS):c.*1826C>G	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 308099	NM_033360.4(KRAS):c.*1777A>G	KRAS	Single nucleotide variant (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +1 more	GUncertain significance
Select item 308100	NM_033360.4(KRAS):c.*1776C>T	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308102	NM_033360.4(KRAS):c.*1759A>G	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308101	NM_033360.4(KRAS):c.1758_1759del	KRAS	Deletion (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +2 more	GBenign/Likely benign
Select item 2642796	NM_004985.5(KRAS):c.*1634A>G	KRAS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 308103	NM_033360.4(KRAS):c.*1752A>G	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308104	NM_033360.4(KRAS):c.*1748dup	KRAS	Duplication (3 prime UTR variant)	Cardio-facio-cutaneous syndrome +1 more	GLikely benign
Select item 308105	NM_033360.4(KRAS):c.*1708T>C	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308106	NM_033360.4(KRAS):c.*1661T>C	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308107	NM_033360.4(KRAS):c.*1622G>A	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308108	NM_033360.4(KRAS):c.1539_1541del	KRAS	Deletion (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308109	NM_033360.4(KRAS):c.*1326C>T	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308110	NM_033360.4(KRAS):c.*1204A>G	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308111	NM_033360.4(KRAS):c.*1183G>A	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308112	NM_033360.4(KRAS):c.*1094G>T	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308113	NM_033360.4(KRAS):c.*986T>C	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308114	NM_033360.4(KRAS):c.*945T>C	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 308115	NM_033360.4(KRAS):c.*886A>G	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308116	NM_033360.4(KRAS):c.*671C>T	KRAS	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 308117	NM_033360.4(KRAS):c.*659del	KRAS	Deletion (3 prime UTR variant)	Noonan syndrome +1 more	GUncertain significance
Select item 308118	NM_033360.4(KRAS):c.*633T>C	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome +1 more	GBenign/Likely benign
Select item 308119	NM_033360.4(KRAS):c.*525T>C	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome and Noonan-related syndrome +1 more	GConflicting classifications of pathogenicity
Select item 308120	NM_033360.4(KRAS):c.*491C>G	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308121	NM_033360.4(KRAS):c.*314C>T	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 40467	NM_033360.4(KRAS):c.*298T>G	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome and Noonan-related syndrome +3 more	GBenign/Likely benign
Select item 308122	NM_033360.4(KRAS):c.*297C>T	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 308123	NM_033360.4(KRAS):c.*180A>G	KRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 662834	NC_000012.11:g.(?_25362709)_(25398338_?)dup	KRAS, LOC132090079	Duplication	RASopathy	GUncertain significance
Select item 645362	NC_000012.12:g.(?_25209775)_(25209931_?)del	KRAS	Deletion	RASopathy	GUncertain significance
Select item 385525	NM_033360.4(KRAS):c.*134C>T	KRAS	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2086297	NM_004985.5(KRAS):c.563T>C (p.Met188Thr)	KRAS (M188T)	Single nucleotide variant (3 prime UTR variant +1 more)	RASopathy	GUncertain significance
Select item 2818268	NM_004985.5(KRAS):c.556G>A (p.Val186Ile)	KRAS (V186I)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 561725	NM_033360.4(KRAS):c.*110G>T	KRAS (V186L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 620625	NM_033360.4(KRAS):c.101_106del	KRAS	Deletion (3 prime UTR variant +1 more)	RASopathy +13 more	GUncertain significance
Select item 2914356	NM_004985.5(KRAS):c.550_551del (p.Lys184fs)	KRAS (K184fs)	Deletion (3 prime UTR variant +1 more)	RASopathy	GUncertain significance
Select item 700718	NM_033360.4(KRAS):c.*103A>G	KRAS	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3009878	NM_004985.5(KRAS):c.548C>G (p.Thr183Arg)	KRAS (T183R)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2759640	NM_004985.5(KRAS):c.548C>A (p.Thr183Lys)	KRAS (T183K)	Single nucleotide variant (3 prime UTR variant +1 more)	RASopathy	GUncertain significance
Select item 2714298	NM_004985.5(KRAS):c.547A>G (p.Thr183Ala)	KRAS (T183A)	Single nucleotide variant (3 prime UTR variant +1 more)	RASopathy	GUncertain significance
Select item 1113732	NM_004985.5(KRAS):c.535AAG[1] (p.Lys180del)	KRAS (K180del)	Microsatellite (3 prime UTR variant +1 more)	RASopathy	GLikely benign
Select item 1419488	NM_004985.5(KRAS):c.536A>G (p.Lys179Arg)	KRAS (K179R)	Single nucleotide variant (3 prime UTR variant +1 more)	RASopathy	GUncertain significance
Select item 931154	NM_004985.5(KRAS):c.534_536del (p.Lys180del)	KRAS (K180del)	Deletion (3 prime UTR variant +1 more)	Toriello-Lacassie-Droste syndrome	GUncertain significance
Select item 155804	NM_004985.5(KRAS):c.528GAA[3] (p.Lys180dup)	KRAS	Microsatellite (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance

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