ClinVar for Gene (Select 831) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 534

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305231	NM_000439.5(PCSK1):c.506G>A (p.Gly169Asp)	CAST, LOC101929710 +1 more (G122D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305230	NM_000439.5(PCSK1):c.1403T>C (p.Val468Ala)	CAST, LOC101929710 +1 more (V468A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305229	NM_000439.5(PCSK1):c.1520T>G (p.Val507Gly)	CAST, LOC101929710 +1 more (V460G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3275162	NM_012081.6(ELL2):c.49C>A (p.Leu17Met)	CAST, ELL2 +1 more (L17M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263509	NM_001750.7(CAST):c.1687G>C (p.Asp563His)	CAST (D408H +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3263508	NM_001750.7(CAST):c.587G>A (p.Ser196Asn)	CAST (S181N +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3253179	NM_000439.5(PCSK1):c.1745G>A (p.Gly582Glu)	CAST, LOC101929710 +1 more (G535E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3237526	NM_000439.5(PCSK1):c.621-8A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 3210429	NM_000439.5(PCSK1):c.71G>A (p.Ser24Asn)	CAST, LOC101929710 +1 more (S24N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210428	NM_000439.5(PCSK1):c.712A>G (p.Ile238Val)	CAST, LOC101929710 +1 more (I191V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210427	NM_000439.5(PCSK1):c.544G>A (p.Asp182Asn)	CAST, LOC101929710 +1 more (D182N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210426	NM_000439.5(PCSK1):c.1265A>G (p.Asn422Ser)	CAST, LOC101929710 +1 more (N375S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3137698	NM_001750.7(CAST):c.337G>C (p.Ala113Pro)	CAST (A113P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137697	NM_001750.7(CAST):c.2324C>T (p.Ala775Val)	CAST, ERAP1 (A620V +21 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3137696	NM_001750.7(CAST):c.2198C>G (p.Pro733Arg)	CAST, ERAP1 (P609R +21 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3137695	NM_001750.7(CAST):c.2138C>G (p.Pro713Arg)	CAST, ERAP1 (P558R +21 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3137694	NM_001750.7(CAST):c.2086A>G (p.Thr696Ala)	CAST, ERAP1 (T559A +21 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3137693	NM_001750.7(CAST):c.1921C>T (p.Arg641Cys)	CAST, ERAP1 (R517C +16 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3137692	NM_001750.7(CAST):c.1402C>T (p.Pro468Ser)	CAST (P313S +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137691	NM_001750.7(CAST):c.1195G>A (p.Asp399Asn)	CAST (D262N +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067971	NM_000439.5(PCSK1):c.951T>G (p.Cys317Trp)	CAST, LOC101929710 +1 more (C270W +1 more)	Single nucleotide variant (missense variant +1 more)	Obesity due to prohormone convertase I deficiency	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 3060983	NM_000439.5(PCSK1):c.844C>T (p.Arg282Trp)	CAST, LOC101929710 +1 more (R235W +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3059522	NM_000439.5(PCSK1):c.1461T>C (p.Ile487=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3058407	NM_000439.5(PCSK1):c.1196+8C>A	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	PCSK1-related disorder	GLikely benign
Select item 3058392	NM_000439.5(PCSK1):c.1176C>T (p.Phe392=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3057430	NM_001750.7(CAST):c.1488T>C (p.Cys496=)	CAST	Single nucleotide variant (synonymous variant +1 more)	CAST-related disorder	GLikely benign
Select item 3057093	NM_000439.5(PCSK1):c.2162A>G (p.Tyr721Cys)	CAST, LOC101929710 +1 more (Y674C +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3056519	NM_000439.5(PCSK1):c.1824G>T (p.Thr608=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3056242	NM_000439.5(PCSK1):c.2076G>A (p.Lys692=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3053341	NM_000439.5(PCSK1):c.1783T>G (p.Ser595Ala)	PCSK1, CAST +1 more (S548A +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3053083	NM_001750.7(CAST):c.1134G>A (p.Ser378=)	CAST	Single nucleotide variant (synonymous variant)	CAST-related disorder	GLikely benign
Select item 3052139	NM_001750.7(CAST):c.879+10A>G	CAST	Single nucleotide variant (intron variant)	CAST-related disorder	GLikely benign
Select item 3051580	NM_000439.5(PCSK1):c.1096-9G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	PCSK1-related disorder	GLikely benign
Select item 3050656	NM_000439.5(PCSK1):c.1950C>T (p.Ser650=)	LOC101929710, PCSK1 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3050173	NM_001750.7(CAST):c.2221C>T (p.Leu741=)	CAST, ERAP1	Single nucleotide variant (synonymous variant +2 more)	CAST-related disorder	GLikely benign
Select item 3049689	NM_000439.5(PCSK1):c.1014C>T (p.Gly338=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3049410	NM_000439.5(PCSK1):c.281A>G (p.Asp94Gly)	CAST, LOC101929710 +1 more (D47G +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3048876	NM_000439.5(PCSK1):c.1083C>T (p.Thr361=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3046165	NM_001750.7(CAST):c.1122C>T (p.Leu374=)	CAST	Single nucleotide variant (synonymous variant)	CAST-related disorder	GLikely benign
Select item 3045997	NM_000439.5(PCSK1):c.2076G>C (p.Lys692Asn)	CAST, LOC101929710 +1 more (K645N +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3045861	NM_000439.5(PCSK1):c.1501A>C (p.Ile501Leu)	CAST, LOC101929710 +1 more (I454L +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder +1 more	GUncertain significance
Select item 3045722	NM_001750.7(CAST):c.1461G>A (p.Ser487=)	CAST	Single nucleotide variant (synonymous variant +1 more)	CAST-related disorder	GLikely benign
Select item 3045641	NM_000439.5(PCSK1):c.354A>G (p.Leu118=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3045589	NM_000439.5(PCSK1):c.374T>A (p.Met125Lys)	PCSK1, CAST +1 more (M125K +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3045446	NM_000439.5(PCSK1):c.1776C>T (p.His592=)	LOC101929710, PCSK1 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3044580	NM_000439.5(PCSK1):c.125G>A (p.Gly42Asp)	CAST, LOC101929710 +1 more (G42D)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GLikely pathogenic
Select item 3044543	NM_000439.5(PCSK1):c.28T>G (p.Cys10Gly)	CAST, LOC101929710 +1 more (C10G)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3044093	NM_000439.5(PCSK1):c.613G>A (p.Glu205Lys)	CAST, LOC101929710 +1 more (E158K +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3040506	NM_000439.5(PCSK1):c.1807C>T (p.Gln603Ter)	CAST, LOC101929710 +1 more (Q556* +1 more)	Single nucleotide variant (nonsense +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3040347	NM_000439.5(PCSK1):c.1621C>T (p.Arg541Trp)	CAST, LOC101929710 +1 more (R494W +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3039707	NM_000439.5(PCSK1):c.1431-9T>C	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	PCSK1-related disorder	GLikely benign
Select item 3038957	NM_001750.7(CAST):c.270+8G>A	CAST	Single nucleotide variant (intron variant)	CAST-related disorder	GLikely benign
Select item 3036793	NM_001750.7(CAST):c.495A>G (p.Lys165=)	CAST	Single nucleotide variant (synonymous variant)	CAST-related disorder	GLikely benign
Select item 3035997	NM_000439.5(PCSK1):c.1380C>T (p.Ser460=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3035578	NM_000439.5(PCSK1):c.1131G>A (p.Thr377=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3035299	NM_000439.5(PCSK1):c.129G>C (p.Pro43=)	PCSK1, CAST +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3034200	NM_000439.5(PCSK1):c.180+742A>G	CAST, LOC101929710 +1 more (M1V)	Single nucleotide variant (missense variant +2 more)	PCSK1-related disorder	GUncertain significance
Select item 3033136	NM_000439.5(PCSK1):c.2214C>T (p.Asp738=)	PCSK1, CAST +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3032174	NM_000439.5(PCSK1):c.754A>G (p.Ser252Gly)	CAST, LOC101929710 +1 more (S205G +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3030976	NM_000439.5(PCSK1):c.1746A>C (p.Gly582=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3030601	NM_000439.5(PCSK1):c.819T>C (p.Asp273=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3030570	NM_000439.5(PCSK1):c.1168G>A (p.Gly390Ser)	CAST, LOC101929710 +1 more (G343S +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3030449	NM_000439.5(PCSK1):c.380A>T (p.Asn127Ile)	CAST, LOC101929710 +1 more (N127I +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3030316	NM_000439.5(PCSK1):c.921G>A (p.Ser307=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3030302	NM_000439.5(PCSK1):c.1061C>G (p.Ser354Cys)	CAST, LOC101929710 +1 more (S307C +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related disorder	GUncertain significance
Select item 3030057	NM_000439.5(PCSK1):c.498G>A (p.Leu166=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3029665	NM_000439.5(PCSK1):c.795T>C (p.Ser265=)	PCSK1, CAST +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3029309	NM_000439.5(PCSK1):c.1401T>C (p.Cys467=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3029244	NM_000439.5(PCSK1):c.282T>C (p.Asp94=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related disorder	GLikely benign
Select item 3024666	NM_001750.7(CAST):c.1956T>C (p.Asp652=)	CAST, ERAP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3023421	NM_000439.5(PCSK1):c.150C>G (p.Ala50=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3022010	NM_000439.5(PCSK1):c.1125G>A (p.Thr375=)	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 3017806	NM_001750.7(CAST):c.969C>T (p.Thr323=)	CAST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009212	NM_000439.5(PCSK1):c.181-9C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005713	NM_000439.5(PCSK1):c.1059C>G (p.Thr353=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2995747	NM_001750.7(CAST):c.2033_2037del (p.Val678fs)	CAST, ERAP1 (V572fs +21 more)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 2992978	NM_000439.5(PCSK1):c.620+11A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991079	NM_000439.5(PCSK1):c.834G>A (p.Glu278=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987448	NM_001750.7(CAST):c.2037+14_2037+28del	CAST, ERAP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2967571	NM_001750.7(CAST):c.1332+20dup	CAST	Duplication (intron variant)	not provided	GBenign
Select item 2965017	NM_000439.5(PCSK1):c.1589-9G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957984	NM_001750.7(CAST):c.1099-19G>T	CAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957582	NM_001750.7(CAST):c.210+11T>C	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2956501	NM_001750.7(CAST):c.1762-19C>G	CAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916174	NM_000439.5(PCSK1):c.492C>T (p.Thr164=)	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2905661	NM_001750.7(CAST):c.1011G>A (p.Glu337=)	CAST	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2900789	NM_000439.5(PCSK1):c.780C>T (p.His260=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2895840	NM_000439.5(PCSK1):c.1095+8G>T	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888131	NM_001750.7(CAST):c.1525-5T>A	CAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885944	NM_001750.7(CAST):c.621G>A (p.Pro207=)	CAST	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879603	NM_001750.7(CAST):c.1152G>A (p.Arg384=)	CAST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869853	NM_001750.7(CAST):c.1429-5C>T	CAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864530	NM_001750.7(CAST):c.672A>C (p.Glu224Asp)	CAST (E183D +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2855512	NM_000439.5(PCSK1):c.544-20A>G	LOC101929710, CAST +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808656	NM_000439.5(PCSK1):c.1956G>T (p.Gly652=)	PCSK1, CAST +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2808136	NM_000439.5(PCSK1):c.1974G>A (p.Leu658=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2800230	NM_000439.5(PCSK1):c.366T>C (p.Asn122=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2784786	NM_001750.7(CAST):c.211-5T>C	CAST	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 6