ClinVar for Gene (Select 3082) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049558	NM_000601.6(HGF):c.105A>G (p.Arg35=)	HGF	Single nucleotide variant (synonymous variant)	HGF-related condition	GLikely benign
Select item 3012020	NM_000601.6(HGF):c.88+11TTC[2]	HGF	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3006789	NM_000601.6(HGF):c.1602G>A (p.Gln534=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995405	NM_000601.6(HGF):c.1445-18T>C	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983281	NM_000601.6(HGF):c.1169-11T>G	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976517	NM_000601.6(HGF):c.1758-8G>A	HGF	Single nucleotide variant (intron variant)	HGF-related condition +1 more	GLikely benign
Select item 2968016	NM_000601.6(HGF):c.1617-20A>T	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967202	NM_000601.6(HGF):c.1758-16T>C	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962382	NM_000601.6(HGF):c.368-20T>C	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958112	NM_000601.6(HGF):c.88+11TTC[3]	HGF	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2956760	NM_000601.6(HGF):c.1272-17G>A	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899941	NM_000601.6(HGF):c.888T>A (p.Thr296=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870185	NM_000601.6(HGF):c.1616+9T>C	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865958	NM_000601.6(HGF):c.1865-17T>G	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858363	NM_000601.6(HGF):c.866-15G>A	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821398	NM_000601.6(HGF):c.1048C>T (p.Arg350Ter)	HGF (R350* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2816155	NM_000601.6(HGF):c.89-5A>G	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800845	NM_000601.6(HGF):c.1286A>G (p.Glu429Gly)	HGF (E429G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781654	NM_000601.6(HGF):c.801G>C (p.Pro267=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764097	NM_000601.6(HGF):c.1616+14A>T	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724509	NM_000601.6(HGF):c.285A>G (p.Gln95=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662634	NM_000601.6(HGF):c.1735C>G (p.Leu579Val)	HGF (L574V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661966	NM_000601.6(HGF):c.2141A>G (p.Lys714Arg)	HGF (K709R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657638	NM_000601.6(HGF):c.1035G>A (p.Lys345=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2538145	NM_000601.6(HGF):c.932A>G (p.Glu311Gly)	HGF (E306G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528387	NM_000601.6(HGF):c.1832G>A (p.Ser611Asn)	HGF (S606N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526664	NM_000601.6(HGF):c.181A>T (p.Thr61Ser)	HGF (T61S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507239	NM_000601.6(HGF):c.84T>G (p.Tyr28Ter)	HGF (Y28*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2506747	NM_000601.6(HGF):c.1154T>C (p.Met385Thr)	HGF (M380T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2487888	NM_000601.6(HGF):c.1160A>T (p.His387Leu)	HGF (H387L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425807	NC_000007.13:g.(?_81331897)_(84751207_?)dup	CACNA2D1, HGF +4 more	Duplication	CHARGE association	GUncertain significance
Select item 2423331	NC_000007.13:g.(?_81331897)_(81603888_?)dup	CACNA2D1, HGF	Duplication	not provided	GUncertain significance
Select item 2417238	NM_000601.6(HGF):c.1272-5_1272-4inv	HGF	Inversion (intron variant)	not provided	GUncertain significance
Select item 2416333	NM_000601.6(HGF):c.1788G>A (p.Thr596=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2409794	NM_000601.6(HGF):c.182C>A (p.Thr61Asn)	HGF (T61N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241041	NM_000601.6(HGF):c.1677G>C (p.Glu559Asp)	HGF (E554D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221938	NM_000601.6(HGF):c.1049G>A (p.Arg350Gln)	HGF (R350Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211961	NM_000601.6(HGF):c.758A>G (p.Lys253Arg)	HGF (K253R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202990	NM_000601.6(HGF):c.7G>C (p.Val3Leu)	HGF (V3L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2195033	NM_000601.6(HGF):c.1469C>T (p.Thr490Met)	HGF (T485M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190905	NM_000601.6(HGF):c.1470G>A (p.Thr490=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189951	NM_000601.6(HGF):c.753C>T (p.Pro251=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177586	NM_000601.6(HGF):c.474C>T (p.His158=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176414	NM_000601.6(HGF):c.508A>G (p.Lys170Glu)	HGF (K170E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104064	NM_000601.6(HGF):c.1884A>G (p.Leu628=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075706	NM_000601.6(HGF):c.1605T>C (p.Cys535=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070994	NM_000601.6(HGF):c.983G>A (p.Arg328His)	HGF (R328H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066301	NM_000601.6(HGF):c.482+5G>C	HGF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2065322	NM_000601.6(HGF):c.899T>G (p.Leu300Trp)	HGF (L295W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055967	NM_000601.6(HGF):c.2011G>C (p.Gly671Arg)	HGF (G666R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044270	NM_000601.6(HGF):c.1951A>T (p.Thr651Ser)	HGF (T646S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044269	NM_000601.6(HGF):c.1953_1954insGAATGAGT (p.Leu652delinsGluTer)	HGF	Insertion (nonsense)	not provided	GUncertain significance
Select item 2032927	NM_000601.6(HGF):c.367+17T>C	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2022238	NM_000601.6(HGF):c.1272T>C (p.Arg424=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2019225	NM_000601.6(HGF):c.1372C>T (p.Leu458Phe)	HGF (L453F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964954	NM_000601.6(HGF):c.104G>T (p.Arg35Ile)	HGF (R35I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945965	NM_000601.6(HGF):c.579T>C (p.Asn193=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942381	NM_000601.6(HGF):c.626-7T>G	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938986	NM_000601.6(HGF):c.1274A>T (p.His425Leu)	HGF (H420L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935906	NM_000601.6(HGF):c.1685A>G (p.Lys562Arg)	HGF (K562R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920582	NM_000601.6(HGF):c.483-17T>A	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914842	NM_000601.6(HGF):c.1405+20G>C	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905776	NM_000601.6(HGF):c.1005C>T (p.His335=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898533	NM_000601.6(HGF):c.1406-10A>G	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1804467	NM_000601.6(HGF):c.2105G>A (p.Arg702His)	HGF (R697H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802248	NM_000601.6(HGF):c.1810T>C (p.Cys604Arg)	HGF (C599R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 39	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1707372	NM_000601.6(HGF):c.2084G>A (p.Arg695His)	HGF (R690H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703989	NM_000601.6(HGF):c.754G>A (p.Asp252Asn)	HGF (D247N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1700497	NM_000601.6(HGF):c.104GAA[1] (p.Arg36del)	HGF (R36del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1650244	NM_000601.6(HGF):c.1405+11T>C	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646497	NM_000601.6(HGF):c.747-17C>G	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635709	NM_000601.6(HGF):c.1865-12G>A	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633017	NM_000601.6(HGF):c.1272-17G>C	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1620037	NM_000601.6(HGF):c.1272-17G>T	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1611607	NM_000601.6(HGF):c.1444+7A>T	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1604982	NM_000601.6(HGF):c.21G>T (p.Leu7=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1569170	NM_000601.6(HGF):c.625+20A>G	HGF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1568469	NM_000601.6(HGF):c.626-17_626-16dup	HGF	Duplication (intron variant)	not provided	GLikely benign
Select item 1527371	GRCh37/hg19 7q21.11(chr7:78430626-82605557)	CACNA2D1, CD36 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1527367	GRCh37/hg19 7q11.23-21.11(chr7:77310644-84461089)	CACNA2D1, CD36 +11 more	Copy number loss	not specified	GPathogenic
Select item 1524963	NM_000601.6(HGF):c.1421C>A (p.Thr474Lys)	HGF (T469K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1524215	NM_000601.6(HGF):c.1403G>C (p.Arg468Pro)	HGF (R463P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518909	NM_000601.6(HGF):c.1403G>A (p.Arg468His)	HGF (R463H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504602	NM_000601.6(HGF):c.751C>G (p.Pro251Ala)	HGF (P246A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497794	NM_000601.6(HGF):c.389T>C (p.Ile130Thr)	HGF (I130T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476372	NM_000601.6(HGF):c.1768C>G (p.Leu590Val)	HGF (L585V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1472755	NM_000601.6(HGF):c.1602G>C (p.Gln534His)	HGF (Q529H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466240	NM_000601.6(HGF):c.1816A>G (p.Ile606Val)	HGF (I606V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464558	NM_000601.6(HGF):c.1666A>G (p.Arg556Gly)	HGF (R551G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462791	NM_000601.6(HGF):c.2146A>C (p.Ile716Leu)	HGF (I711L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1454415	NC_000007.13:g.(?_80276057)_(83739925_?)del	CACNA2D1, CD36 +5 more	Deletion	not provided	GPathogenic
Select item 1438857	NM_000601.6(HGF):c.1981G>A (p.Ala661Thr)	HGF (A656T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427897	NM_000601.6(HGF):c.2095A>G (p.Ile699Val)	HGF (I694V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406464	NM_000601.6(HGF):c.1595C>T (p.Ala532Val)	HGF (A532V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1392002	NM_000601.6(HGF):c.724C>T (p.Arg242Trp)	HGF (R242W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1358002	NM_000601.6(HGF):c.2123G>A (p.Arg708Gln)	HGF (R703Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321642	NM_000601.6(HGF):c.725G>A (p.Arg242Gln)	HGF (R237Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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