ClinVar for MedGen (Select 98047) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024392	NM_020451.3(SELENON):c.1282-13G>A	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
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	GLikely benign
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 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 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 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 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)	Eichsfeld type congenital muscular dystrophy	GPathogenic
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 (intron 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
Select item 2165755	NM_020451.3(SELENON):c.1761C>T (p.Leu587=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2164073	NM_020451.3(SELENON):c.1691C>T (p.Thr564Ile)	SELENON (T530I +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2161546	NM_020451.3(SELENON):c.906C>T (p.Pro302=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2160856	NM_020451.3(SELENON):c.1764C>T (p.Leu588=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2159809	NM_020451.3(SELENON):c.636G>A (p.Pro212=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2159321	NM_020451.3(SELENON):c.1730T>C (p.Leu577Pro)	SELENON (L577P +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +1 more	GUncertain significance
Select item 2159320	NM_020451.3(SELENON):c.1189C>T (p.Gln397Ter)	SELENON (Q397* +1 more)	Single nucleotide variant (nonsense)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 2158906	NM_020451.3(SELENON):c.1004A>G (p.Asn335Ser)	SELENON (N301S +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2155083	NM_020451.3(SELENON):c.1674C>T (p.Leu558=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2151493	NM_020451.3(SELENON):c.544C>T (p.Arg182Cys)	SELENON (R182C +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2147621	NM_020451.3(SELENON):c.553C>T (p.Leu185=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2146084	NM_020451.3(SELENON):c.1270C>A (p.Pro424Thr)	SELENON (P424T +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2142538	NM_020451.3(SELENON):c.1602+17A>G	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2140590	NM_020451.3(SELENON):c.28G>A (p.Gly10Arg)	SELENON (G10R)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2139293	NM_020451.3(SELENON):c.1010+18G>A	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2138171	NM_020451.3(SELENON):c.975C>T (p.His325=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2134205	NM_020451.3(SELENON):c.1281+7C>T	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2132216	NM_020451.3(SELENON):c.1108A>T (p.Thr370Ser)	SELENON (T336S +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2129135	NM_020451.3(SELENON):c.167A>C (p.Gln56Pro)	SELENON (Q56P)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2125535	NM_020451.3(SELENON):c.1297T>G (p.Phe433Val)	SELENON (F433V +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2124433	NM_020451.3(SELENON):c.795G>A (p.Val265=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2120479	NM_020451.3(SELENON):c.156C>T (p.His52=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2119014	NM_020451.3(SELENON):c.1504A>T (p.Asn502Tyr)	SELENON (N502Y +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2117656	NM_020451.3(SELENON):c.1650G>C (p.Lys550Asn)	SELENON (K516N +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2116620	NM_020451.3(SELENON):c.1301C>G (p.Thr434Ser)	SELENON (T434S +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2113172	NM_020451.3(SELENON):c.-21_183+6del	SELENON	Deletion (splice donor variant +1 more)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 2111430	NM_020451.3(SELENON):c.1388-12C>T	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2109360	NM_020451.3(SELENON):c.748-12C>T	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2106661	NM_020451.3(SELENON):c.1388-6G>C	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign

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