3082[geneid] - 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	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 254280	Single allele	CACNA2D1, CACNA2D1-AS1 +79 more	Deletion	Seizure +1 more	GLikely pathogenic
Select item 545351	NC_000007.14:g.(?_81478831)_(84097791_?)del	CACNA2D1, CACNA2D1-AS1 +25 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 254281	Single allele	CACNA2D1, CACNA2D1-AS1 +25 more	Deletion	Seizure +1 more	GLikely pathogenic
Select item 369591	NM_000601.6(HGF):c.*467A>G	HGF	Single nucleotide variant (3 prime UTR variant)	Nonsyndromic Hearing Loss, Mixed	GLikely benign
Select item 360774	NM_000601.6(HGF):c.*396A>T	HGF	Single nucleotide variant (3 prime UTR variant)	Nonsyndromic Hearing Loss, Mixed	GUncertain significance
Select item 360775	NM_000601.6(HGF):c.*101A>G	HGF	Single nucleotide variant (3 prime UTR variant)	Nonsyndromic Hearing Loss, Mixed	GUncertain significance
Select item 1065086	NM_000601.6(HGF):c.2183C>A (p.Ser728Ter)	HGF (S723* +1 more)	Single nucleotide variant (nonsense)	Hearing impairment	GUncertain significance
Select item 504595	NM_000601.6(HGF):c.2179C>T (p.Gln727Ter)	HGF (Q727* +1 more)	Single nucleotide variant (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 289922	NM_000601.6(HGF):c.2019T>C (p.Tyr673=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 749693	NM_000601.6(HGF):c.2016T>C (p.Asp672=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 667245	NM_000601.6(HGF):c.2011-3dup	HGF	Duplication (intron variant)	not specified	GUncertain significance
Select item 1219481	NM_000601.6(HGF):c.2011-32T>G	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186051	NM_000601.6(HGF):c.2011-50C>A	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244067	NM_000601.6(HGF):c.2011-78C>A	HGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218721	NM_000601.6(HGF):c.2011-140A>G	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205115	NM_000601.6(HGF):c.2011-160A>G	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219918	NM_000601.6(HGF):c.2010+6A>G	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2044269	NM_000601.6(HGF):c.1953_1954insGAATGAGT (p.Leu652delinsGluTer)	HGF	Insertion (nonsense)	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 667244	NM_000601.6(HGF):c.1942G>A (p.Gly648Arg)	HGF (G643R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 517404	NM_000601.6(HGF):c.1934A>G (p.His645Arg)	HGF (H645R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 360776	NM_000601.6(HGF):c.1904A>G (p.Tyr635Cys)	HGF (Y635C +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic Hearing Loss, Mixed	GUncertain significance
Select item 178380	NM_000601.6(HGF):c.1891G>A (p.Val631Met)	HGF (V631M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2104064	NM_000601.6(HGF):c.1884A>G (p.Leu628=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770186	NM_000601.6(HGF):c.1865-4C>T	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 770187	NM_000601.6(HGF):c.1865-12_1865-6del	HGF	Deletion (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 2865958	NM_000601.6(HGF):c.1865-17T>G	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 194607	NM_000601.6(HGF):c.1832G>C (p.Ser611Thr)	HGF (S611T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 505295	NM_000601.6(HGF):c.1818T>C (p.Ile606=)	HGF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 194608	NM_000601.6(HGF):c.1814C>T (p.Thr605Ile)	HGF (T605I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 2416333	NM_000601.6(HGF):c.1788G>A (p.Thr596=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 360777	NM_000601.6(HGF):c.1765G>A (p.Val589Ile)	HGF (V589I +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic Hearing Loss, Mixed +1 more	GConflicting classifications of pathogenicity
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 2967202	NM_000601.6(HGF):c.1758-16T>C	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273512	NM_000601.6(HGF):c.1758-118del	HGF	Deletion (intron variant)	not provided	GBenign
Select item 1202362	NM_000601.6(HGF):c.1758-119_1758-118del	HGF	Deletion (intron variant)	not provided	GLikely benign
Select item 1216582	NM_000601.6(HGF):c.1758-261C>A	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239121	NM_000601.6(HGF):c.1757+143G>A	HGF	Single nucleotide variant (intron variant)	not provided	GBenign
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 360778	NM_000601.6(HGF):c.1715A>G (p.Tyr572Cys)	HGF (Y572C +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic Hearing Loss, Mixed	GUncertain significance
Select item 748831	NM_000601.6(HGF):c.1704C>T (p.Ser568=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 593391	NM_000601.6(HGF):c.1675G>A (p.Glu559Lys)	HGF (E559K +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 748691	NM_000601.6(HGF):c.1662C>T (p.His554=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 681499	NM_000601.6(HGF):c.1627G>T (p.Asp543Tyr)	HGF (D538Y +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2968016	NM_000601.6(HGF):c.1617-20A>T	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207899	NM_000601.6(HGF):c.1617-34T>C	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192034	NM_000601.6(HGF):c.1617-154G>C	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204992	NM_000601.6(HGF):c.1617-175T>G	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188146	NM_000601.6(HGF):c.1617-289A>C	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272777	NM_000601.6(HGF):c.1616+167A>G	HGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682779	NM_000601.6(HGF):c.1616+71G>T	HGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205045	NM_000601.6(HGF):c.1616+22T>C	HGF	Single nucleotide variant (intron 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 2870185	NM_000601.6(HGF):c.1616+9T>C	HGF	Single nucleotide variant (intron 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 3006789	NM_000601.6(HGF):c.1602G>A (p.Gln534=)	HGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1194247	NM_000601.6(HGF):c.1542-214T>G	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177908	NM_000601.6(HGF):c.1541+256G>A	HGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193157	NM_000601.6(HGF):c.1541+221T>C	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287559	NM_000601.6(HGF):c.1541+159T>G	HGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 228740	NM_000601.6(HGF):c.1540A>G (p.Arg514Gly)	HGF (R514G +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 43608	NM_000601.6(HGF):c.1454T>C (p.Ile485Thr)	HGF (I485T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2995405	NM_000601.6(HGF):c.1445-18T>C	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201650	NM_000601.6(HGF):c.1445-152G>A	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216760	NM_000601.6(HGF):c.1444+290C>T	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212199	NM_000601.6(HGF):c.1444+282G>A	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 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 514999	NM_000601.6(HGF):c.1406-3C>T	HGF	Single nucleotide variant (intron variant)	not specified	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 1244500	NM_000601.6(HGF):c.1405+256T>C	HGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289477	NM_000601.6(HGF):c.1405+128C>T	HGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1914842	NM_000601.6(HGF):c.1405+20G>C	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1650244	NM_000601.6(HGF):c.1405+11T>C	HGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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