11389[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334888	t(17;19)(q25.1;p13.3)	STK11	Translocation	Adrenal cortex carcinoma	GUncertain significance
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	ABCA7, ARHGAP45 +136 more	Copy number loss	See cases	GPathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 60232	GRCh38/hg38 19p13.3(chr19:1143045-1215323)x3	LOC108254692, LOC110006317 +17 more	Copy number gain	See cases	GUncertain significance
Select item 148955	GRCh38/hg38 19p13.3(chr19:1144297-1211700)x3	LOC108254692, LOC112543439 +14 more	Copy number gain	See cases	GUncertain significance
Select item 60067	GRCh38/hg38 19p13.3(chr19:1156372-1228333)x1	CBARP, LOC108254692 +21 more	Copy number loss	See cases	GPathogenic
Select item 1701346	NC_000019.10:g.1201926G>A	STK11	Single nucleotide variant	not provided	GLikely benign
Select item 1879405	NC_000019.10:g.1205344G>C	LOC130062893, STK11	Single nucleotide variant	not provided	GLikely benign
Select item 1204333	NC_000019.10:g.1205491A>G	LOC112543439, STK11	Single nucleotide variant	not provided	GLikely benign
Select item 1276994	NC_000019.10:g.1205638G>T	LOC112543439, STK11	Single nucleotide variant	not provided	GBenign
Select item 993156	NM_000455.5(STK11):c.-1114_290+1dup	LOC130062894, STK11	Duplication (splice donor variant +1 more)	not provided	GUncertain significance
Select item 576830	NM_000455.5(STK11):c.-1114_290+1del	LOC130062894, LOC130062895 +1 more	Deletion (splice donor variant +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 237784	NC_000019.10:g.(?_1205799)_(1226663_?)del	LOC110006317, LOC110006318 +9 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 328202	NM_000455.5(STK11):c.-1098G>A	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 892102	NM_000455.5(STK11):c.-1097G>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3231731	NM_000455.5(STK11):c.-1089_290+816dup	STK11	Duplication (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 328203	NM_000455.5(STK11):c.-1055C>T	LOC130062895, STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 328204	NM_000455.5(STK11):c.-1024C>T	LOC130062895, STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome +1 more	GBenign
Select item 328205	NM_000455.5(STK11):c.-925C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 892103	NM_000455.5(STK11):c.-893C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 892104	NM_000455.5(STK11):c.-835C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 892105	NM_000455.5(STK11):c.-806C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 892106	NM_000455.5(STK11):c.-783G>A	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 892107	NM_000455.5(STK11):c.-775G>A	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 888657	NM_000455.5(STK11):c.-774C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 328206	NM_000455.5(STK11):c.-723G>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 328207	NM_000455.5(STK11):c.-635del	STK11	Deletion (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 888658	NM_000455.5(STK11):c.-590C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 328208	NM_000455.5(STK11):c.-587G>C	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 888659	NM_000455.5(STK11):c.-580G>A	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GBenign
Select item 328209	NM_000455.5(STK11):c.-577C>T	STK11	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 328210	NM_000455.5(STK11):c.-562G>C	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GBenign
Select item 803510	NM_000455.5(STK11):c.-551C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 328211	NM_000455.5(STK11):c.-546G>A	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 328212	NM_000455.5(STK11):c.-520C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 888660	NM_000455.5(STK11):c.-474G>A	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 328213	NM_000455.5(STK11):c.-461G>A	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GConflicting classifications of pathogenicity
Select item 328214	NM_000455.5(STK11):c.-447C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 328215	NM_000455.5(STK11):c.-430C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome +1 more	GBenign/Likely benign
Select item 890362	NM_000455.5(STK11):c.-388C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 328216	NM_000455.5(STK11):c.-387C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 890363	NM_000455.5(STK11):c.-333G>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 328217	NM_000455.5(STK11):c.-311C>T	STK11	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 890364	NM_000455.5(STK11):c.-302G>A	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 803511	NM_000455.5(STK11):c.-280C>A	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 328218	NM_000455.5(STK11):c.-274C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GBenign
Select item 328219	NM_000455.5(STK11):c.-229C>G	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 328220	NM_000455.5(STK11):c.-216A>C	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 328221	NM_000455.5(STK11):c.-193C>G	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 803512	NM_000455.5(STK11):c.-167C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 890921	NM_000455.5(STK11):c.-150G>A	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 328222	NM_000455.5(STK11):c.-137C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GBenign/Likely benign
Select item 890922	NM_000455.5(STK11):c.-136C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 890923	NM_000455.5(STK11):c.-128G>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 328223	NM_000455.5(STK11):c.-127T>C	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome +1 more	GBenign/Likely benign
Select item 328224	NM_000455.5(STK11):c.-107dup	STK11	Duplication (5 prime UTR variant)	Peutz-Jeghers syndrome	GConflicting classifications of pathogenicity
Select item 328225	NM_000455.5(STK11):c.-106C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 803513	NM_000455.5(STK11):c.-99C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 803514	NM_000455.5(STK11):c.-95G>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 328226	NM_000455.5(STK11):c.-81A>G	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 328227	NM_000455.5(STK11):c.-55C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 421099	NM_000455.5(STK11):c.-50_-43del	STK11	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 379512	NM_000455.5(STK11):c.-49A>C	STK11	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 1290978	NM_000455.5(STK11):c.-48C>T	STK11	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 387617	NM_000455.5(STK11):c.-48C>G	STK11	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 385934	NM_000455.5(STK11):c.-19C>T	STK11	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 507127	NM_000455.5(STK11):c.-17A>G	STK11	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 628245	NM_000455.5(STK11):c.-16G>A	STK11	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 507780	NM_000455.5(STK11):c.-11del	STK11	Deletion (5 prime UTR variant)	Peutz-Jeghers syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1332211	NM_000455.5(STK11):c.-12C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 383932	NM_000455.5(STK11):c.-11C>T	STK11	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GLikely benign
Select item 660135	NC_000019.9:g.(?_1206903)_(1226656_?)dup	LOC110006317, LOC110006318 +7 more	Duplication	Peutz-Jeghers syndrome	GUncertain significance
Select item 655761	NC_000019.9:g.(?_1206903)_(1222015_?)dup	LOC110006317, LOC110006318 +6 more	Duplication	Peutz-Jeghers syndrome	GUncertain significance
Select item 643712	NC_000019.10:g.(?_1206904)_(1219423_?)del	LOC130062897, LOC130062898 +5 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 643158	NC_000019.9:g.(?_1206903)_(1223181_?)dup	LOC110006317, LOC110006318 +7 more	Duplication	Peutz-Jeghers syndrome	GUncertain significance
Select item 583838	NC_000019.9:g.(?_1206903)_(1207212_?)dup	STK11	Duplication	Peutz-Jeghers syndrome	GUncertain significance
Select item 583657	NC_000019.10:g.(?_1206904)_(1226657_?)del	LOC110006317, LOC110006318 +7 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 385458	NM_000455.5(STK11):c.-10T>G	STK11	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 630396	NM_000455.5(STK11):c.-9G>A	STK11	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 422225	NM_000455.5(STK11):c.-7del	STK11	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 926194	NM_000455.5(STK11):c.-6T>A	STK11	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 583544	NC_000019.10:g.(?_1206908)_(1221346_?)del	LOC130062898, LOC110006317 +6 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 527862	NC_000019.9:g.(?_1206907)_(1207208_?)dup	STK11	Duplication	Peutz-Jeghers syndrome	GUncertain significance
Select item 458006	NC_000019.9:g.(?_1206907)_(1222011_?)dup	LOC110006317, LOC110006318 +6 more	Duplication	Peutz-Jeghers syndrome	GUncertain significance
Select item 267336	NC_000019.10:g.(?_1206908)_(1226652_?)del	LOC110006318, LOC121627843 +7 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 186562	NM_000455.5(STK11):c.-5C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 627831	NM_000455.5(STK11):c.-4C>T	STK11	Single nucleotide variant (5 prime UTR variant)	Peutz-Jeghers syndrome +1 more	GUncertain significance
Select item 1050750	NM_000455.5(STK11):c.-2_290+1013del	LOC125371447, LOC130062896 +1 more	Deletion (splice donor variant +1 more)	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 328228	NM_000455.5(STK11):c.-2G>T	STK11	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 224550	NM_000455.4(STK11):c.(?_-1)_920+?del	LOC110006318, LOC121627843 +6 more	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 185127	NM_000455.5(STK11):c.-1C>T	STK11	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1707938	NM_000455.5(STK11):c.1A>G (p.Met1Val)	STK11 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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