Related gene-specific medical variations for Gene (Select 831) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067971	NM_000439.5(PCSK1):c.951T>G (p.Cys317Trp)	PCSK1, CAST +1 more (C270W +1 more)	Single nucleotide variant (missense variant +1 more)	Obesity due to prohormone convertase I deficiency	GUncertain significance
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 condition	GUncertain significance
Select item 3059522	NM_000439.5(PCSK1):c.1461T>C (p.Ile487=)	LOC101929710, PCSK1 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related condition	GLikely benign
Select item 3058407	NM_000439.5(PCSK1):c.1196+8C>A	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	PCSK1-related condition	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 condition	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 condition	GUncertain significance
Select item 3056519	NM_000439.5(PCSK1):c.1824G>T (p.Thr608=)	LOC101929710, PCSK1 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related condition	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 condition	GLikely benign
Select item 3053341	NM_000439.5(PCSK1):c.1783T>G (p.Ser595Ala)	CAST, LOC101929710 +1 more (S548A +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related condition	GUncertain significance
Select item 3051580	NM_000439.5(PCSK1):c.1096-9G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	PCSK1-related condition	GLikely benign
Select item 3050656	NM_000439.5(PCSK1):c.1950C>T (p.Ser650=)	CAST, PCSK1 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related condition	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 condition	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 condition	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 condition	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 condition	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 condition	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 condition	GUncertain significance
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 condition	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 condition	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 condition	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 condition	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 condition	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 condition	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 condition	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 condition	GUncertain significance
Select item 3039707	NM_000439.5(PCSK1):c.1431-9T>C	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	PCSK1-related condition	GLikely benign
Select item 3035997	NM_000439.5(PCSK1):c.1380C>T (p.Ser460=)	LOC101929710, PCSK1 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related condition	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 condition	GLikely benign
Select item 3035299	NM_000439.5(PCSK1):c.129G>C (p.Pro43=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related condition	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 condition	GUncertain significance
Select item 3033136	NM_000439.5(PCSK1):c.2214C>T (p.Asp738=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related condition	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 condition	GUncertain significance
Select item 3030976	NM_000439.5(PCSK1):c.1746A>C (p.Gly582=)	PCSK1, CAST +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related condition	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 condition	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 condition	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 condition	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 condition	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 condition	GUncertain significance
Select item 3030057	NM_000439.5(PCSK1):c.498G>A (p.Leu166=)	LOC101929710, PCSK1 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related condition	GLikely benign
Select item 3029665	NM_000439.5(PCSK1):c.795T>C (p.Ser265=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	PCSK1-related condition	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 condition	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 condition	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 (synonymous variant +1 more)	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=)	PCSK1, CAST +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 2965017	NM_000439.5(PCSK1):c.1589-9G>A	CAST, LOC101929710 +1 more	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 (synonymous variant +1 more)	not provided	GLikely benign
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 2855512	NM_000439.5(PCSK1):c.544-20A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808656	NM_000439.5(PCSK1):c.1956G>T (p.Gly652=)	CAST, LOC101929710 +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 2749807	NM_001750.7(CAST):c.2037+27_2037+28insTAAAAAAAAAAAAAAAAAAAAA	CAST, ERAP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2743344	NM_000439.5(PCSK1):c.2034C>T (p.Asn678=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2726539	NM_000439.5(PCSK1):c.1723-9A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2722998	NM_001750.7(CAST):c.2058T>C (p.His686=)	CAST, ERAP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2720925	NM_000439.5(PCSK1):c.1588+8A>T	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2711250	NM_000439.5(PCSK1):c.1589-15G>C	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702619	NM_000439.5(PCSK1):c.543+1G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2665036	NM_001750.7(CAST):c.1200+911C>A	CAST	Single nucleotide variant (non-coding transcript variant +1 more)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	GUncertain significance
Select item 2665035	NM_001750.7(CAST):c.587G>T (p.Ser196Ile)	CAST (S113I +10 more)	Single nucleotide variant (missense variant +1 more)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	GUncertain significance
Select item 2662474	NM_000439.5(PCSK1):c.1287T>A (p.Asn429Lys)	CAST, LOC101929710 +1 more (N382K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661895	NM_000439.5(PCSK1):c.1024del (p.Trp342fs)	CAST, LOC101929710 +1 more (W295fs +1 more)	Deletion (frameshift variant +1 more)	Body mass index quantitative trait locus 12 +1 more	GLikely pathogenic
Select item 2655596	NM_000439.5(PCSK1):c.1109T>C (p.Leu370Pro)	CAST, LOC101929710 +1 more (L323P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2636888	NM_000439.5(PCSK1):c.1666G>A (p.Val556Ile)	CAST, LOC101929710 +1 more (V509I +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related condition	GUncertain significance
Select item 2636122	NM_000439.5(PCSK1):c.226C>T (p.Pro76Ser)	CAST, LOC101929710 +1 more (P29S +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related condition	GUncertain significance
Select item 2635066	NM_000439.5(PCSK1):c.1935C>A (p.Ser645Arg)	CAST, LOC101929710 +1 more (S598R +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related condition	GUncertain significance
Select item 2635018	NM_000439.5(PCSK1):c.1691T>C (p.Ile564Thr)	CAST, LOC101929710 +1 more (I517T +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related condition	GUncertain significance
Select item 2634365	NM_000439.5(PCSK1):c.539A>G (p.Asn180Ser)	CAST, LOC101929710 +1 more (N133S +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related condition	GUncertain significance
Select item 2634337	NM_000439.5(PCSK1):c.467T>C (p.Ile156Thr)	CAST, LOC101929710 +1 more (I109T +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related condition	GUncertain significance
Select item 2634335	NM_000439.5(PCSK1):c.745A>G (p.Ile249Val)	CAST, LOC101929710 +1 more (I202V +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related condition	GUncertain significance
Select item 2634222	NM_000439.5(PCSK1):c.413C>T (p.Thr138Met)	CAST, LOC101929710 +1 more (T138M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2634112	NM_000439.5(PCSK1):c.760A>G (p.Ile254Val)	CAST, LOC101929710 +1 more (I207V +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related condition	GUncertain significance
Select item 2632058	NM_000439.5(PCSK1):c.236C>G (p.Ser79Cys)	CAST, LOC101929710 +1 more (S32C +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related condition	GUncertain significance
Select item 2632028	NM_000439.5(PCSK1):c.292T>C (p.Trp98Arg)	CAST, LOC101929710 +1 more (W51R +1 more)	Single nucleotide variant (intron variant +1 more)	PCSK1-related condition	GUncertain significance
Select item 2631274	NM_000439.5(PCSK1):c.365A>G (p.Asn122Ser)	CAST, LOC101929710 +1 more (N122S +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related condition	GUncertain significance
Select item 2630440	NM_000439.5(PCSK1):c.180+771del	CAST, LOC101929710 +1 more (F11fs)	Deletion (frameshift variant +1 more)	PCSK1-related condition	GUncertain significance
Select item 2629613	NM_000439.5(PCSK1):c.233G>A (p.Arg78Lys)	CAST, LOC101929710 +1 more (R31K +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related condition	GUncertain significance
Select item 2629249	NM_000439.5(PCSK1):c.578A>G (p.Asp193Gly)	CAST, LOC101929710 +1 more (D146G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2628556	NM_000439.5(PCSK1):c.1102G>A (p.Ala368Thr)	CAST, LOC101929710 +1 more (A321T +1 more)	Single nucleotide variant (missense variant +1 more)	PCSK1-related condition	GUncertain significance
Select item 2595889	NM_000439.5(PCSK1):c.1124C>T (p.Thr375Met)	CAST, LOC101929710 +1 more (T328M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555350	NM_000439.5(PCSK1):c.323G>C (p.Ser108Thr)	CAST, LOC101929710 +1 more (S61T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2546902	NM_000439.5(PCSK1):c.1124C>G (p.Thr375Arg)	CAST, LOC101929710 +1 more (T375R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541613	NM_001750.7(CAST):c.2032G>C (p.Val678Leu)	CAST, ERAP1 (V646L +21 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2536623	NM_012081.6(ELL2):c.98A>G (p.Lys33Arg)	CAST, ELL2 +1 more (K33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508256	NM_000439.5(PCSK1):c.1673C>A (p.Thr558Lys)	CAST, LOC101929710 +1 more (T511K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502220	NM_000439.5(PCSK1):c.1430+7A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	Body mass index quantitative trait locus 12 +1 more	GUncertain significance
Select item 2502196	NM_000439.5(PCSK1):c.638C>T (p.Ala213Val)	LOC101929710, CAST +1 more (A166V +1 more)	Single nucleotide variant (missense variant)	Body mass index quantitative trait locus 12 +1 more	GUncertain significance
Select item 2501705	NM_000439.5(PCSK1):c.818del (p.Asp273fs)	CAST, LOC101929710 +1 more (D226fs +1 more)	Deletion (frameshift variant)	Obesity due to prohormone convertase I deficiency	GLikely pathogenic
Select item 2488423	NM_001750.7(CAST):c.2041A>G (p.Lys681Glu)	CAST, ERAP1 (K544E +21 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2487997	NM_000439.5(PCSK1):c.1712T>A (p.Ile571Asn)	CAST, LOC101929710 +1 more (I571N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2414128	NM_000439.5(PCSK1):c.1824G>A (p.Thr608=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2394492	NM_001750.7(CAST):c.1837T>C (p.Phe613Leu)	CAST, ERAP1 (F508L +16 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance

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