4149[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	AKAP5, C14orf39 +264 more	Copy number loss	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 147881	GRCh38/hg38 14q23.3(chr14:64952923-66295289)x3	LOC130055860, LOC130055861 +57 more	Copy number gain	See cases	GUncertain significance
Select item 1245444	NM_002028.4(FNTB):c.209+1859_209+1860dup	CHURC1-FNTB, FNTB +2 more	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1233463	NM_002028.4(FNTB):c.209+1860dup	LOC126861966, MAX +2 more	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2582922	NM_002028.4(FNTB):c.209+1930A>C	CHURC1-FNTB, FNTB +2 more (Y62* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1692098	NM_002028.4(FNTB):c.209+1976G>T	CHURC1-FNTB, FNTB +2 more	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 1233970	NM_002028.4(FNTB):c.209+2165G>A	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1802848	NM_002028.4(FNTB):c.282+8C>A	FNTB, CHURC1-FNTB +1 more	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2575320	NM_002028.4(FNTB):c.606-16G>A	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2644327	NM_002028.4(FNTB):c.672C>T (p.Gly224=)	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644328	NM_002028.4(FNTB):c.915G>A (p.Ala305=)	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644329	NM_002028.4(FNTB):c.990C>T (p.Phe330=)	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 313788	NM_002382.5(MAX):c.*1308C>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 313789	NM_002382.5(MAX):c.*1285T>C	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 313790	NM_002382.5(MAX):c.*1278C>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 313791	NM_002382.5(MAX):c.*1276G>C	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 313792	NM_002382.5(MAX):c.*1229C>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 313793	NM_002382.5(MAX):c.*1127G>C	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GBenign
Select item 313794	NM_002382.5(MAX):c.*1123A>C	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GBenign
Select item 883970	NM_002382.5(MAX):c.*1035C>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 313795	NM_002382.5(MAX):c.*1023C>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 880680	NM_002382.5(MAX):c.*943G>A	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 313796	NM_002382.5(MAX):c.*942C>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 313797	NM_002382.5(MAX):c.*873T>C	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 313798	NM_002382.5(MAX):c.*717T>C	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GBenign
Select item 880681	NM_002382.5(MAX):c.*700G>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GBenign
Select item 880682	NM_002382.5(MAX):c.*678C>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 880683	NM_002382.5(MAX):c.*616C>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GBenign
Select item 313799	NM_002382.5(MAX):c.*608CA[1]	MAX	Microsatellite (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 313800	NM_002382.5(MAX):c.*603C>G	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GLikely benign
Select item 313801	NM_002382.5(MAX):c.*587G>A	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GBenign
Select item 313802	NM_002382.5(MAX):c.*565G>A	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GBenign
Select item 313803	NM_002382.5(MAX):c.*534G>A	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 313804	NM_002382.5(MAX):c.*503T>G	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 313805	NM_002382.5(MAX):c.*461C>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GBenign
Select item 313806	NM_002382.5(MAX):c.*405G>A	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GLikely benign
Select item 313807	NM_002382.5(MAX):c.*404C>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GBenign
Select item 313808	NM_002382.5(MAX):c.*375G>A	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GBenign
Select item 1677325	NM_002382.5(MAX):c.*374C>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 313809	NM_002382.5(MAX):c.*344T>A	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GBenign
Select item 313810	NM_002382.5(MAX):c.*320T>G	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 313811	NM_002382.5(MAX):c.*297C>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GBenign
Select item 313812	NM_002382.5(MAX):c.*248A>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GBenign
Select item 313813	NM_002382.5(MAX):c.*170C>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 884037	NM_002382.5(MAX):c.*169T>C	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 313814	NM_002382.5(MAX):c.*144C>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GBenign
Select item 880742	NM_002382.5(MAX):c.*128T>A	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GBenign
Select item 880743	NM_002382.5(MAX):c.*96C>G	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 313815	NM_002382.5(MAX):c.*92G>A	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 880744	NM_002382.5(MAX):c.*65G>C	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GBenign
Select item 313816	NM_002382.5(MAX):c.*44G>A	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma	GLikely benign
Select item 313817	NM_002382.5(MAX):c.*7C>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma +2 more	GBenign/Likely benign
Select item 2631349	NM_002382.5(MAX):c.*2C>T	MAX	Single nucleotide variant (3 prime UTR variant +2 more)	MAX-related condition	GUncertain significance
Select item 1743165	NM_002382.5(MAX):c.479G>T (p.Ser160Ile)	MAX (S93I +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1987900	NM_002382.5(MAX):c.478del (p.Ser160fs)	MAX (S151fs +2 more)	Deletion (frameshift variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 825151	NM_002382.5(MAX):c.475G>A (p.Ala159Thr)	MAX (A96T +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 2985228	NM_002382.5(MAX):c.474G>A (p.Glu158=)	MAX	Single nucleotide variant (3 prime UTR variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2093029	NM_002382.5(MAX):c.473A>G (p.Glu158Gly)	MAX (E149G +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 232084	NM_002382.5(MAX):c.467G>A (p.Arg156Gln)	MAX (R156Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1742300	NM_002382.5(MAX):c.466C>G (p.Arg156Gly)	MAX (R120G +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 647774	NM_002382.5(MAX):c.466C>T (p.Arg156Trp)	MAX (R93W +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 774772	NM_002382.5(MAX):c.462G>A (p.Lys154=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely benign
Select item 2757638	NM_002382.5(MAX):c.460A>G (p.Lys154Glu)	MAX (K145E +4 more)	Single nucleotide variant (missense variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1099624	NM_002382.5(MAX):c.459G>A (p.Lys153=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 1878967	NM_002382.5(MAX):c.456G>C (p.Arg152Ser)	MAX (R116S +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1635871	NM_002382.5(MAX):c.456G>A (p.Arg152=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2453895	NM_002382.5(MAX):c.454A>G (p.Arg152Gly)	MAX (R152G +4 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2587741	NM_002382.5(MAX):c.453C>A (p.Ser151Arg)	MAX (S115R +4 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1366073	NM_002382.5(MAX):c.452G>A (p.Ser151Asn)	MAX (S151N +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1636775	NM_002382.5(MAX):c.450A>G (p.Gln150=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2818360	NM_002382.5(MAX):c.449A>G (p.Gln150Arg)	MAX (Q114R +4 more)	Single nucleotide variant (missense variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1740881	NM_002382.5(MAX):c.447C>G (p.Pro149=)	MAX	Single nucleotide variant (3 prime UTR variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2116911	NM_002382.5(MAX):c.444G>A (p.Glu148=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 570685	NM_002382.5(MAX):c.442dup (p.Glu148fs)	MAX (E139fs +2 more)	Duplication (frameshift variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 959467	NM_002382.5(MAX):c.439G>A (p.Glu147Lys)	MAX (E147K +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2103464	NM_002382.5(MAX):c.438T>A (p.Pro146=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 1622049	NM_002382.5(MAX):c.438T>C (p.Pro146=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2630458	NM_002382.5(MAX):c.437C>G (p.Pro146Arg)	MAX (P110R +4 more)	Single nucleotide variant (missense variant +3 more)	MAX-related condition	GUncertain significance
Select item 2178557	NM_002382.5(MAX):c.436C>T (p.Pro146Ser)	MAX (P137S +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 514278	NM_002382.5(MAX):c.435G>A (p.Glu145=)	MAX	Single nucleotide variant (synonymous variant +3 more)	not specified +2 more	GLikely benign
Select item 1589933	NM_002382.5(MAX):c.432T>C (p.Ser144=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely benign
Select item 1553360	NM_002382.5(MAX):c.432T>G (p.Ser144=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 463811	NM_002382.5(MAX):c.432T>A (p.Ser144=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 1739631	NM_002382.5(MAX):c.430T>C (p.Ser144Pro)	MAX (S135P +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 1118358	NM_002382.5(MAX):c.429G>A (p.Glu143=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 1042009	NM_002382.5(MAX):c.429G>C (p.Glu143Asp)	MAX (E80D +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 412781	NM_002382.5(MAX):c.426G>A (p.Ser142=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 404109	NM_002382.5(MAX):c.425C>T (p.Ser142Leu)	MAX (S142L +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 2751479	NM_002382.5(MAX):c.424T>C (p.Ser142Pro)	MAX (S133P +4 more)	Single nucleotide variant (missense variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 948950	NM_002382.5(MAX):c.422G>C (p.Ser141Thr)	MAX (S132T +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 1738615	NM_002382.5(MAX):c.419C>G (p.Ser140Cys)	MAX (S77C +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1402174	NM_002382.5(MAX):c.417C>G (p.Asp139Glu)	MAX (D76E +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1491705	NM_002382.5(MAX):c.416A>T (p.Asp139Val)	MAX (D139V +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 404103	NM_002382.5(MAX):c.415G>A (p.Asp139Asn)	MAX (D139N +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2097024	NM_002382.5(MAX):c.414G>C (p.Ser138=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 404111	NM_002382.5(MAX):c.414G>A (p.Ser138=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign

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