17284[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 148342	GRCh38/hg38 7q31.32-32.1(chr7:123829366-127947731)x1	ARF5, FSCN3 +60 more	Copy number loss	See cases	GLikely pathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 436386	NM_015450.3(POT1):c.*1507A>G	POT1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2657976	NM_015450.3(POT1):c.*998G>A	POT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1203802	NM_015450.3(POT1):c.*89A>G	POT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2576496	NM_015450.3(POT1):c.*29A>G	POT1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 662854	NC_000007.14:g.(?_124823952)_(124897183_?)del	POT1	Deletion	Tumor predisposition syndrome 3	GPathogenic
Select item 583933	NC_000007.13:g.(?_124464010)_(124499172_?)dup	POT1	Duplication	Tumor predisposition syndrome 3	GUncertain significance
Select item 2016288	NM_015450.3(POT1):c.1902C>G (p.Ile634Met)	POT1 (I634M +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 772922	NM_015450.3(POT1):c.1902C>A (p.Ile634=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3	GLikely benign
Select item 1425389	NM_015450.3(POT1):c.1901T>C (p.Ile634Thr)	POT1 (I634T +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2138754	NM_015450.3(POT1):c.1899A>C (p.Val633=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3	GLikely benign
Select item 2585758	NM_015450.3(POT1):c.1898del (p.Val633fs)	POT1 (V502fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1782187	NM_015450.3(POT1):c.1897G>T (p.Val633Leu)	POT1 (V502L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1782162	NM_015450.3(POT1):c.1896T>C (p.Asp632=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1060409	NM_015450.3(POT1):c.1896T>G (p.Asp632Glu)	POT1 (D501E +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2565249	NM_015450.3(POT1):c.1895A>G (p.Asp632Gly)	POT1 (D632G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1959018	NM_015450.3(POT1):c.1895A>T (p.Asp632Val)	POT1 (D501V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 820287	NM_015450.3(POT1):c.1891G>A (p.Glu631Lys)	POT1 (E500K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1782057	NM_015450.3(POT1):c.1890A>G (p.Ala630=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2758998	NM_015450.3(POT1):c.1889C>G (p.Ala630Gly)	POT1 (A630G +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 1463878	NM_015450.3(POT1):c.1885G>C (p.Val629Leu)	POT1 (V498L +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 1781948	NM_015450.3(POT1):c.1884del (p.Val629fs)	POT1 (V498fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 475068	NM_015450.3(POT1):c.1884A>C (p.Thr628=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign
Select item 578966	NM_015450.3(POT1):c.1882A>G (p.Thr628Ala)	POT1 (T628A +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2748377	NM_015450.3(POT1):c.1881C>G (p.Thr627=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3	GLikely benign
Select item 792777	NM_015450.3(POT1):c.1881C>A (p.Thr627=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1717830	NM_015450.3(POT1):c.1880C>T (p.Thr627Ile)	POT1 (T496I +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 647883	NM_015450.3(POT1):c.1880C>A (p.Thr627Asn)	POT1 (T627N +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 2130189	NM_015450.3(POT1):c.1878C>G (p.Asp626Glu)	POT1 (D626E +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 3010810	NM_015450.3(POT1):c.1875_1877delinsGG (p.Phe625fs)	POT1 (F494fs +1 more)	Indel (frameshift variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 1038858	NM_015450.3(POT1):c.1877A>T (p.Asp626Val)	POT1 (D495V +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 1006601	NM_015450.3(POT1):c.1877A>G (p.Asp626Gly)	POT1 (D495G +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 820221	NM_015450.3(POT1):c.1869_1877delinsAATTTTGG (p.Phe625fs)	POT1 (F625fs +1 more)	Indel (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781771	NM_015450.3(POT1):c.1875T>G (p.Phe625Leu)	POT1 (F625L +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 1781717	NM_015450.3(POT1):c.1872T>A (p.Ile624=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1014999	NM_015450.3(POT1):c.1872T>G (p.Ile624Met)	POT1 (I493M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 541859	NM_015450.3(POT1):c.1871T>C (p.Ile624Thr)	POT1 (I624T +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 475067	NM_015450.3(POT1):c.1870A>G (p.Ile624Val)	POT1 (I624V +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 1157897	NM_015450.3(POT1):c.1869G>A (p.Gln623=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3 +1 more	GLikely benign
Select item 139526	NM_015450.3(POT1):c.1869G>C (p.Gln623His)	POT1 (Q623H +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GPathogenic
Select item 1497052	NM_015450.3(POT1):c.1865A>C (p.Tyr622Ser)	POT1 (Y622S +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 820215	NM_015450.3(POT1):c.1865A>G (p.Tyr622Cys)	POT1 (Y622C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 541877	NM_015450.3(POT1):c.1864T>C (p.Tyr622His)	POT1 (Y622H +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 1654937	NM_015450.3(POT1):c.1863C>T (p.Cys621=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1392151	NM_015450.3(POT1):c.1862G>T (p.Cys621Phe)	POT1 (C490F +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 1639215	NM_015450.3(POT1):c.1860T>C (p.Ile620=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3	GLikely benign
Select item 820205	NM_015450.3(POT1):c.1860T>G (p.Ile620Met)	POT1 (I489M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 569578	NM_015450.3(POT1):c.1858_1860del (p.Ile620del)	POT1 (I620del +1 more)	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 209095	NM_015450.3(POT1):c.1851_1852del (p.Asp617fs)	POT1 (D486fs +1 more)	Deletion (frameshift variant +1 more)	Tumor predisposition syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 1603414	NM_015450.3(POT1):c.1851T>C (p.Asp617=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 643266	NM_015450.3(POT1):c.1851T>A (p.Asp617Glu)	POT1 (D486E +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 1516965	NM_015450.3(POT1):c.1850A>T (p.Asp617Val)	POT1 (D486V +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 1016023	NM_015450.3(POT1):c.1850A>C (p.Asp617Ala)	POT1 (D486A +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 2159563	NM_015450.3(POT1):c.1847C>G (p.Thr616Arg)	POT1 (T616R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 960944	NM_015450.3(POT1):c.1844G>C (p.Gly615Ala)	POT1 (G484A +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 1781189	NM_015450.3(POT1):c.1842T>C (p.Asn614=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 475066	NM_015450.3(POT1):c.1841A>G (p.Asn614Ser)	POT1 (N614S +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 2089365	NM_015450.3(POT1):c.1839A>C (p.Thr613=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3	GLikely benign
Select item 2198069	NM_015450.3(POT1):c.1836C>T (p.Val612=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1426467	NM_015450.3(POT1):c.1834G>C (p.Val612Leu)	POT1 (V481L +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 475064	NM_015450.3(POT1):c.1834G>A (p.Val612Ile)	POT1 (V612I +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 475063	NM_015450.3(POT1):c.1832A>G (p.Asn611Ser)	POT1 (N611S +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 1350043	NM_015450.3(POT1):c.1831A>G (p.Asn611Asp)	POT1 (N480D +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 1138918	NM_015450.3(POT1):c.1830C>T (p.Tyr610=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3 +1 more	GLikely benign
Select item 573129	NM_015450.3(POT1):c.1829A>G (p.Tyr610Cys)	POT1 (Y610C +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 2861919	NM_015450.3(POT1):c.1828T>G (p.Tyr610Asp)	POT1 (Y479D +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 1491701	NM_015450.3(POT1):c.1828T>C (p.Tyr610His)	POT1 (Y610H +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 1780860	NM_015450.3(POT1):c.1827A>G (p.Ser609=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2856105	NM_015450.3(POT1):c.1823A>C (p.Lys608Thr)	POT1 (K608T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2585762	NM_015450.3(POT1):c.1823A>G (p.Lys608Arg)	POT1 (K608R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 941979	NM_015450.3(POT1):c.1820T>C (p.Ile607Thr)	POT1 (I476T +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 541862	NM_015450.3(POT1):c.1819A>G (p.Ile607Val)	POT1 (I607V +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 1496436	NM_015450.3(POT1):c.1817T>C (p.Phe606Ser)	POT1 (F606S +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 715226	NM_015450.3(POT1):c.1815C>T (p.Cys605=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3 +1 more	GLikely benign
Select item 486133	NM_015450.3(POT1):c.1814G>C (p.Cys605Ser)	POT1 (C605S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 449494	NM_015450.3(POT1):c.1810G>A (p.Glu604Lys)	POT1 (E604K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1364288	NM_015450.3(POT1):c.1809G>A (p.Leu603=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3 +1 more	GLikely benign
Select item 820115	NM_015450.3(POT1):c.1807T>C (p.Leu603=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3 +1 more	GLikely benign
Select item 1473350	NM_015450.3(POT1):c.1805G>T (p.Trp602Leu)	POT1 (W471L +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 857298	NM_015450.3(POT1):c.1805G>A (p.Trp602Ter)	POT1 (W471* +1 more)	Single nucleotide variant (nonsense +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 475062	NM_015450.3(POT1):c.1803G>A (p.Pro601=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3 +2 more	GLikely benign
Select item 541855	NM_015450.3(POT1):c.1802C>T (p.Pro601Leu)	POT1 (P601L +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 1018141	NM_015450.3(POT1):c.1801C>A (p.Pro601Thr)	POT1 (P470T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 820105	NM_015450.3(POT1):c.1801C>T (p.Pro601Ser)	POT1 (P470S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1780397	NM_015450.3(POT1):c.1800T>C (p.Tyr600=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3 +1 more	GLikely benign
Select item 1780303	NM_015450.3(POT1):c.1799A>G (p.Tyr600Cys)	POT1 (Y600C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1605439	NM_015450.3(POT1):c.1797A>C (p.Ala599=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3 +1 more	GLikely benign
Select item 475061	NM_015450.3(POT1):c.1797A>G (p.Ala599=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3 +2 more	GLikely benign
Select item 2082409	NM_015450.3(POT1):c.1796C>T (p.Ala599Val)	POT1 (A599V +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3	GUncertain significance
Select item 1780263	NM_015450.3(POT1):c.1796C>A (p.Ala599Glu)	POT1 (A468E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1780257	NM_015450.3(POT1):c.1795G>T (p.Ala599Ser)	POT1 (A468S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance

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