ClinVar for Gene (Select 57190) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380903	NM_020451.3(SELENON):c.1069del (p.Val357fs)	SELENON (V323fs +1 more)	Deletion (frameshift variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 3378302	NM_020451.3(SELENON):c.-6G>A	SELENON	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3372994	NM_020451.3(SELENON):c.125_136del (p.Ala42_Ala45del)	SELENON	Deletion	not provided	GUncertain significance
Select item 3366830	NM_020451.3(SELENON):c.4_5insCCCG (p.Gly2fs)	SELENON (G2fs)	Insertion (frameshift variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 3364464	NM_020451.3(SELENON):c.302-8_302-7delinsGA	SELENON	Indel (intron variant)	not provided	GUncertain significance
Select item 3336672	NM_020451.3(SELENON):c.243dup (p.Asp82Ter)	SELENON (D82*)	Duplication (nonsense)	Eichsfeld type congenital muscular dystrophy	GLikely pathogenic
Select item 3317232	NM_020451.3(SELENON):c.613C>T (p.His205Tyr)	SELENON (H171Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247693	NC_000001.10:g.(?_26126650)_(26126749_?)del	SELENON	Deletion	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 3159537	NM_020451.3(SELENON):c.73C>A (p.Arg25Ser)	SELENON (R25S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159536	NM_020451.3(SELENON):c.424T>A (p.Cys142Ser)	SELENON (C108S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159535	NM_020451.3(SELENON):c.416C>T (p.Ala139Val)	SELENON (A139V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159534	NM_020451.3(SELENON):c.1616A>T (p.Asn539Ile)	SELENON (N505I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159533	NM_020451.3(SELENON):c.1442T>C (p.Leu481Pro)	SELENON (L481P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159532	NM_020451.3(SELENON):c.1342C>G (p.His448Asp)	SELENON (H448D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159531	NM_020451.3(SELENON):c.1222G>A (p.Glu408Lys)	SELENON (E408K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159530	NM_020451.3(SELENON):c.1000C>G (p.Pro334Ala)	SELENON (P334A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044890	NM_020451.3(SELENON):c.1118C>T (p.Ser373Phe)	SELENON (S339F +1 more)	Single nucleotide variant (missense variant)	SELENON-related disorder	GUncertain significance
Select item 3024392	NM_020451.3(SELENON):c.1282-13G>A	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 3017371	NM_020451.3(SELENON):c.1656G>A (p.Glu552=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2975693	NM_020451.3(SELENON):c.1603-15C>T	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2971163	NM_020451.3(SELENON):c.1602+16C>T	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2919682	NM_020451.3(SELENON):c.1122G>A (p.Val374=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2915013	NM_020451.3(SELENON):c.404-19C>T	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2913660	NM_020451.3(SELENON):c.16C>T (p.Pro6Ser)	SELENON (P6S)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2910922	NM_020451.3(SELENON):c.633C>T (p.Pro211=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2902287	NM_020451.3(SELENON):c.1603-15C>G	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2899777	NM_020451.3(SELENON):c.109C>T (p.Leu37=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2899343	NM_020451.3(SELENON):c.102C>T (p.Leu34=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2890317	NM_020451.3(SELENON):c.1387+14C>G	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2880180	NM_020451.3(SELENON):c.1341G>A (p.Val447=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2875246	NM_020451.3(SELENON):c.1093-11C>T	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2875052	NM_020451.3(SELENON):c.1500+20del	SELENON	Deletion (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2873859	NM_020451.3(SELENON):c.1351C>T (p.Leu451=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2863453	NM_020451.3(SELENON):c.-10_135del (p.Met1fs)	SELENON (M1fs)	Deletion (frameshift variant +1 more)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 2862485	NM_020451.3(SELENON):c.890_981dup (p.Asp328fs)	SELENON (D294fs +1 more)	Duplication (frameshift variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 2859256	NM_020451.3(SELENON):c.404-7C>A	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2856717	NM_020451.3(SELENON):c.744G>A (p.Lys248=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2853082	NM_020451.3(SELENON):c.302-2_302-1del	SELENON	Deletion (splice acceptor variant +1 more)	Eichsfeld type congenital muscular dystrophy	GLikely pathogenic
Select item 2848246	NM_020451.3(SELENON):c.1296G>A (p.Pro432=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2845920	NM_020451.3(SELENON):c.1197G>A (p.Val399=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2844731	NM_020451.3(SELENON):c.184-16C>G	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2820345	NM_020451.3(SELENON):c.276C>T (p.Phe92=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2806691	NM_020451.3(SELENON):c.1605C>G (p.Val535=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2806387	NM_020451.3(SELENON):c.1338G>A (p.Leu446=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2797365	NM_020451.3(SELENON):c.1179G>A (p.Gly393=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2778285	NM_020451.3(SELENON):c.1549_1551del (p.Glu517del)	SELENON (E483del +1 more)	Deletion (inframe_deletion)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2776457	NM_020451.3(SELENON):c.126T>A (p.Ala42=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2775591	NM_020451.3(SELENON):c.51C>G (p.Ala17=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2769621	NM_020451.3(SELENON):c.1281+11G>A	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2764694	NM_020451.3(SELENON):c.59C>T (p.Pro20Leu)	SELENON (P20L)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2762510	NM_020451.3(SELENON):c.390C>T (p.Cys130=)	SELENON	Single nucleotide variant (synonymous variant +1 more)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2750679	NM_020451.3(SELENON):c.726A>G (p.Pro242=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2738504	NM_020451.3(SELENON):c.36C>T (p.Pro12=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2731692	NM_020451.3(SELENON):c.39C>T (p.Ser13=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2730475	NM_020451.3(SELENON):c.302-1G>C	SELENON	Single nucleotide variant (splice acceptor variant +1 more)	Eichsfeld type congenital muscular dystrophy	GLikely pathogenic
Select item 2729277	NM_020451.3(SELENON):c.747+16G>C	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2726025	NM_020451.3(SELENON):c.1093-18C>T	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2722587	NM_020451.3(SELENON):c.1227G>A (p.Leu409=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2715094	NM_020451.3(SELENON):c.627C>T (p.Phe209=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2712992	NM_020451.3(SELENON):c.748-8G>A	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2685388	GRCh37/hg19 1p36.11(chr1:25472339-26240071)x1	AUNIP, LDLRAP1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638503	NM_020451.3(SELENON):c.1549G>A (p.Glu517Lys)	SELENON (E483K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638502	NM_020451.3(SELENON):c.-14_-5dup	SELENON	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 2619000	NM_020451.3(SELENON):c.784C>G (p.Arg262Gly)	SELENON (R262G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615054	NM_020451.3(SELENON):c.1741C>A (p.Leu581Ile)	SELENON (L581I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596458	NM_020451.3(SELENON):c.415G>T (p.Ala139Ser)	SELENON (A139S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584979	NM_020451.3(SELENON):c.843C>G (p.Ile281Met)	SELENON (I281M +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy 4A, autosomal dominant	GUncertain significance
Select item 2527968	NM_020451.3(SELENON):c.646G>A (p.Glu216Lys)	SELENON (E182K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503810	NM_020451.3(SELENON):c.1499dup (p.Asn501fs)	SELENON (N467fs +1 more)	Duplication (frameshift variant)	Eichsfeld type congenital muscular dystrophy	GLikely pathogenic
Select item 2499519	NM_020451.3(SELENON):c.1168del (p.Leu390fs)	SELENON (L356fs +1 more)	Deletion (frameshift variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 2480878	NM_020451.3(SELENON):c.683T>C (p.Leu228Pro)	SELENON (L194P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445962	NM_020451.3(SELENON):c.600_601del (p.Phe201fs)	SELENON (F167fs +1 more)	Microsatellite (frameshift variant)	Eichsfeld type congenital muscular dystrophy	GLikely pathogenic
Select item 2444322	NM_020451.3(SELENON):c.1222G>T (p.Glu408Ter)	SELENON (E374* +1 more)	Single nucleotide variant (nonsense)	Eichsfeld type congenital muscular dystrophy	GPathogenic/Likely pathogenic
Select item 2443372	NM_020451.3(SELENON):c.711C>A (p.Asn237Lys)	SELENON (N203K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435811	NM_020451.3(SELENON):c.273G>C (p.Glu91Asp)	SELENON (E91D)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2435810	NM_020451.3(SELENON):c.650T>C (p.Leu217Pro)	SELENON (L183P +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2435807	NM_020451.3(SELENON):c.635C>T (p.Pro212Leu)	SELENON (P178L +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2435806	NM_020451.3(SELENON):c.1567G>A (p.Val523Met)	SELENON (V489M +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2435805	NM_020451.3(SELENON):c.816G>C (p.Gln272His)	SELENON (Q238H +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2435804	NM_020451.3(SELENON):c.1109C>T (p.Thr370Met)	SELENON (T336M +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2435803	NM_020451.3(SELENON):c.200C>A (p.Thr67Asn)	SELENON (T67N)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 2426553	NC_000001.10:g.(?_26128487)_(26128628_?)dup	SELENON	Duplication	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2419559	NM_020451.3(SELENON):c.142del (p.Val48fs)	SELENON (V48fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2418838	NM_020451.3(SELENON):c.-30_64del (p.Met1fs)	SELENON (M1fs)	Deletion (frameshift variant +1 more)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 2416985	NM_020451.3(SELENON):c.152G>A (p.Arg51His)	SELENON (R51H)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2412682	NM_020451.3(SELENON):c.1388-1G>C	SELENON	Single nucleotide variant (splice acceptor variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2412672	NM_020451.3(SELENON):c.1176del (p.Glu394fs)	SELENON (E360fs +1 more)	Deletion (frameshift variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 2412662	NM_020451.3(SELENON):c.69_76dup (p.Arg26fs)	SELENON (R26fs)	Duplication (frameshift variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 2412657	NM_020451.3(SELENON):c.877C>T (p.His293Tyr)	SELENON (H293Y +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2412645	NM_020451.3(SELENON):c.820G>C (p.Ala274Pro)	SELENON (A274P +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2197506	NM_020451.3(SELENON):c.872+13C>T	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2197505	NM_020451.3(SELENON):c.94G>C (p.Ala32Pro)	SELENON (A32P)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2185033	NM_020451.3(SELENON):c.99G>T (p.Leu33=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2181777	NM_020451.3(SELENON):c.577G>A (p.Ala193Thr)	SELENON (A159T +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2179141	NM_020451.3(SELENON):c.703C>T (p.Leu235=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2175883	NM_020451.3(SELENON):c.403+14C>T	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2166701	NM_020451.3(SELENON):c.377A>G (p.Asn126Ser)	SELENON (N126S)	Single nucleotide variant (missense variant +1 more)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2166542	NM_020451.3(SELENON):c.1759C>G (p.Leu587Val)	SELENON (L553V +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance

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