"Illumina Laboratory Services, Illumina"[submitter] AND "SELENON"[gene - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261269	NM_020451.2(SELENON):c.-42T>C	SELENON	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 261268	NM_020451.3(SELENON):c.-35T>C	SELENON	Single nucleotide variant (5 prime UTR variant)	SEPN1-Related Disorders +1 more	GConflicting classifications of pathogenicity
Select item 297022	NM_020451.3(SELENON):c.-14C>A	SELENON	Single nucleotide variant (5 prime UTR variant)	SELENON-related condition +2 more	GConflicting classifications of pathogenicity
Select item 876357	NM_020451.3(SELENON):c.-1C>A	SELENON	Single nucleotide variant (5 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 95964	NM_020451.3(SELENON):c.42C>T (p.Pro14=)	SELENON	Single nucleotide variant (synonymous variant)	SEPN1-Related Disorders +3 more	GBenign
Select item 95955	NM_020451.3(SELENON):c.103G>C (p.Gly35Arg)	SELENON (G35R)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 874396	NM_020451.3(SELENON):c.164C>T (p.Ala55Val)	SELENON (A55V)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +1 more	GUncertain significance
Select item 631602	NM_020451.3(SELENON):c.180del (p.Gln61fs)	SELENON (Q61fs)	Deletion (frameshift variant)	Eichsfeld type congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 874397	NM_020451.3(SELENON):c.302-11T>A	SELENON	Single nucleotide variant (intron variant)	SEPN1-Related Disorders	GUncertain significance
Select item 130284	NM_020451.3(SELENON):c.409A>G (p.Thr137Ala)	SELENON (T137A +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +2 more	GBenign
Select item 212148	NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)	SELENON (A139T +1 more)	Single nucleotide variant (missense variant)	SEPN1-Related Disorders +4 more	GConflicting classifications of pathogenicity
Select item 95963	NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr)	SELENON (C142Y +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +3 more	GBenign
Select item 297023	NM_020451.3(SELENON):c.427G>A (p.Glu143Lys)	SELENON (E143K +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +2 more	GUncertain significance
Select item 530816	NM_020451.3(SELENON):c.430G>A (p.Glu144Lys)	SELENON (E144K +1 more)	Single nucleotide variant (missense variant)	SEPN1-Related Disorders +1 more	GUncertain significance
Select item 631603	NM_020451.3(SELENON):c.537+1dup	SELENON	Duplication (splice donor variant)	SEPN1-Related Disorders	GUncertain significance
Select item 297024	NM_020451.3(SELENON):c.550G>C (p.Ala184Pro)	SELENON (A184P +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +3 more	GBenign/Likely benign
Select item 95966	NM_020451.3(SELENON):c.583G>A (p.Ala195Thr)	SELENON (A195T +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +3 more	GBenign/Likely benign
Select item 162603	NM_020451.3(SELENON):c.716G>A (p.Arg239His)	SELENON (R239H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 261284	NM_020451.3(SELENON):c.729G>A (p.Pro243=)	SELENON	Single nucleotide variant (synonymous variant)	SELENON-related condition +4 more	GConflicting classifications of pathogenicity
Select item 261285	NM_020451.3(SELENON):c.732G>A (p.Pro244=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 297025	NM_020451.3(SELENON):c.878A>G (p.His293Arg)	SELENON (H293R +1 more)	Single nucleotide variant (missense variant)	SEPN1-Related Disorders +1 more	GConflicting classifications of pathogenicity
Select item 4496	NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	SELENON (G315S +1 more)	Single nucleotide variant (missense variant)	SEPN1-Related Disorders +5 more	GPathogenic/Likely pathogenic
Select item 875310	NM_020451.3(SELENON):c.957C>T (p.Leu319=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 875311	NM_020451.3(SELENON):c.980G>A (p.Arg327His)	SELENON (R293H +1 more)	Single nucleotide variant (missense variant)	SEPN1-Related Disorders +1 more	GUncertain significance
Select item 95967	NM_020451.3(SELENON):c.981C>T (p.Arg327=)	SELENON	Single nucleotide variant (synonymous variant)	SEPN1-Related Disorders +3 more	GBenign
Select item 876268	NM_020451.3(SELENON):c.1010+14C>G	SELENON	Single nucleotide variant (intron variant)	SEPN1-Related Disorders	GUncertain significance
Select item 297026	NM_020451.3(SELENON):c.1082A>G (p.Tyr361Cys)	SELENON (Y361C +1 more)	Single nucleotide variant (missense variant)	SEPN1-Related Disorders +1 more	GUncertain significance
Select item 212146	NM_020451.3(SELENON):c.1092+6C>G	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy +3 more	GBenign/Likely benign
Select item 297027	NM_020451.3(SELENON):c.1110G>A (p.Thr370=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 876269	NM_020451.3(SELENON):c.1141G>A (p.Glu381Lys)	SELENON (E381K +1 more)	Single nucleotide variant (missense variant)	SEPN1-Related Disorders	GUncertain significance
Select item 297028	NM_020451.3(SELENON):c.1148GCA[1] (p.Ser384del)	SELENON (S384del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 380239	NM_020451.3(SELENON):c.1162A>G (p.Ser388Gly)	SELENON (S388G +1 more)	Single nucleotide variant (missense variant)	SEPN1-Related Disorders +3 more	GBenign/Likely benign
Select item 95956	NM_020451.3(SELENON):c.1173T>C (p.Pro391=)	SELENON	Single nucleotide variant (synonymous variant)	SEPN1-Related Disorders +3 more	GBenign
Select item 493029	NM_020451.3(SELENON):c.1191G>T (p.Gln397His)	SELENON (Q397H +1 more)	Single nucleotide variant (missense variant)	SEPN1-Related Disorders +2 more	GUncertain significance
Select item 876389	NM_020451.3(SELENON):c.1295C>T (p.Pro432Leu)	SELENON (P432L +1 more)	Single nucleotide variant (missense variant)	SEPN1-Related Disorders +2 more	GUncertain significance
Select item 261275	NM_020451.3(SELENON):c.1387+11C>T	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy +2 more	GBenign
Select item 4492	NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)	SELENON (R466Q +1 more)	Single nucleotide variant (missense variant)	SEPN1-Related Disorders +3 more	GPathogenic/Likely pathogenic
Select item 193916	NM_020451.3(SELENON):c.1428G>A (p.Ser476=)	SELENON	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 387295	NM_020451.3(SELENON):c.1500+7G>A	SELENON	Single nucleotide variant (intron variant)	SEPN1-Related Disorders +2 more	GConflicting classifications of pathogenicity
Select item 95959	NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys)	SELENON (N502K +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +3 more	GBenign
Select item 297029	NM_020451.3(SELENON):c.1575G>A (p.Met525Ile)	SELENON (M525I +1 more)	Single nucleotide variant (missense variant)	SEPN1-Related Disorders	GUncertain significance
Select item 261277	NM_020451.3(SELENON):c.1602+14C>T	SELENON	Single nucleotide variant (intron variant)	SEPN1-Related Disorders +2 more	GConflicting classifications of pathogenicity
Select item 297030	NM_020451.3(SELENON):c.1623C>T (p.Asn541=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 261278	NM_020451.3(SELENON):c.1645G>A (p.Val549Met)	SELENON (V549M +1 more)	Single nucleotide variant (missense variant)	SEPN1-Related Disorders +4 more	GBenign/Likely benign
Select item 95961	NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)	SELENON (E552K +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +4 more	GConflicting classifications of pathogenicity
Select item 297031	NM_020451.3(SELENON):c.1704G>A (p.Pro568=)	SELENON	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 261279	NM_020451.3(SELENON):c.1710G>A (p.Thr570=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 261280	NM_020451.3(SELENON):c.1745G>A (p.Arg582Gln)	SELENON (R582Q +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +2 more	GBenign
Select item 261267	NM_020451.3(SELENON):c.*44G>T	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders +2 more	GLikely benign
Select item 875349	NM_020451.3(SELENON):c.*63C>T	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GLikely benign
Select item 297032	NM_020451.3(SELENON):c.*83G>A	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 875350	NM_020451.3(SELENON):c.*144C>G	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders +1 more	GBenign
Select item 297033	NM_020451.3(SELENON):c.219_222del	SELENON	Deletion (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 297034	NM_020451.3(SELENON):c.*228C>T	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders +1 more	GBenign/Likely benign
Select item 297036	NM_020451.3(SELENON):c.*267C>G	SELENON	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 297035	NM_020451.3(SELENON):c.*267C>A	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GLikely benign
Select item 875351	NM_020451.3(SELENON):c.*316C>T	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GLikely benign
Select item 297037	NM_020451.3(SELENON):c.*482del	SELENON	Deletion (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 875409	NM_020451.3(SELENON):c.*501G>A	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GBenign
Select item 297038	NM_020451.3(SELENON):c.*646A>G	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GLikely benign
Select item 875410	NM_020451.3(SELENON):c.*679C>T	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 297039	NM_020451.3(SELENON):c.*686A>G	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 875411	NM_020451.3(SELENON):c.*698T>C	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GBenign
Select item 297040	NM_020451.3(SELENON):c.*710C>T	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 297041	NM_020451.3(SELENON):c.*754G>A	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 297042	NM_020451.3(SELENON):c.*771G>A	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GLikely benign
Select item 297043	NM_020451.3(SELENON):c.*780C>T	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GLikely benign
Select item 297044	NM_020451.3(SELENON):c.*855C>T	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GLikely benign
Select item 876436	NM_020451.3(SELENON):c.*938C>T	SELENON	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 876437	NM_020451.3(SELENON):c.*942T>G	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 876438	NM_020451.3(SELENON):c.*987T>C	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 297045	NM_020451.3(SELENON):c.*1000G>A	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 876439	NM_020451.3(SELENON):c.*1200C>T	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 876440	NM_020451.3(SELENON):c.*1231A>G	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 874483	NM_020451.3(SELENON):c.*1251A>G	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 297046	NM_020451.3(SELENON):c.*1306G>A	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GLikely benign
Select item 297047	NM_020451.3(SELENON):c.*1333G>C	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 874484	NM_020451.3(SELENON):c.*1357A>C	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 874485	NM_020451.3(SELENON):c.*1406C>T	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 874486	NM_020451.3(SELENON):c.*1435G>A	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 297048	NM_020451.3(SELENON):c.*1496TTTTG[3]	SELENON	Microsatellite (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 297049	NM_020451.3(SELENON):c.*1500G>A	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GBenign
Select item 297050	NM_020451.3(SELENON):c.*1612T>C	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GBenign
Select item 297051	NM_020451.3(SELENON):c.*1622G>A	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 874541	NM_020451.3(SELENON):c.*1652A>G	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 297052	NM_020451.3(SELENON):c.*1672T>G	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 297053	NM_020451.3(SELENON):c.*1722T>C	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GBenign
Select item 297054	NM_020451.3(SELENON):c.*1731A>C	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 297055	NM_020451.3(SELENON):c.*1782C>T	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 875460	NM_020451.3(SELENON):c.*1787G>A	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 297056	NM_020451.3(SELENON):c.*1807T>C	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 875461	NM_020451.3(SELENON):c.*1831A>G	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GLikely benign
Select item 875462	NM_020451.3(SELENON):c.*1840G>A	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 875463	NM_020451.3(SELENON):c.*1944T>C	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GLikely benign
Select item 297057	NM_020451.3(SELENON):c.*1985A>T	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 875464	NM_020451.3(SELENON):c.*2043G>T	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GBenign
Select item 297058	NM_020451.3(SELENON):c.*2047G>A	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 876481	NM_020451.3(SELENON):c.*2130C>T	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GBenign
Select item 876482	NM_020451.3(SELENON):c.*2158C>T	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance
Select item 297059	NM_020451.3(SELENON):c.*2207G>A	SELENON	Single nucleotide variant (3 prime UTR variant)	SEPN1-Related Disorders	GUncertain significance

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