"GeneDx"[submitter] AND "SELENON"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 680991	NM_020451.2(SELENON):c.-347A>G	SELENON	Single nucleotide variant	not provided	GBenign
Select item 1186264	NC_000001.11:g.25800001G>A	SELENON	Single nucleotide variant	not provided	GLikely benign
Select item 1210769	NC_000001.11:g.25800107A>C	SELENON	Single nucleotide variant	not provided	GLikely benign
Select item 1191543	NC_000001.11:g.25800121dup	SELENON	Duplication	not provided	GLikely benign
Select item 1189816	NC_000001.11:g.25800126_25800130del	SELENON	Deletion	not provided	GLikely benign
Select item 1193431	NC_000001.11:g.25800132T>G	SELENON	Single nucleotide variant	not provided	GLikely benign
Select item 511754	NM_020451.2(SELENON):c.-58_-47dupCGGCCCCGCCCC	SELENON	Duplication	not specified	GLikely benign
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 disorder +1 more	GConflicting classifications of pathogenicity
Select item 514934	NM_020451.3(SELENON):c.-22_-13dup	SELENON	Duplication (5 prime UTR variant)	not specified	GLikely benign
Select item 373075	NM_020451.3(SELENON):c.-11_81del (p.Met1fs)	SELENON (M1fs)	Deletion (frameshift variant +1 more)	Eichsfeld type congenital muscular dystrophy +2 more	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 379511	NM_020451.3(SELENON):c.-1C>T	SELENON	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 4491	NM_020451.3(SELENON):c.1A>G (p.Met1Val)	SELENON (M1V)	Single nucleotide variant (missense variant +1 more)	Eichsfeld type congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 280406	NM_020451.3(SELENON):c.9_33del (p.Ala4fs)	SELENON (A4fs)	Deletion (frameshift variant +1 more)	Eichsfeld type congenital muscular dystrophy +1 more	GPathogenic
Select item 193432	NM_020451.3(SELENON):c.13_22dup (p.Gln8fs)	SELENON (Q8fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 426515	NM_020451.3(SELENON):c.4G>T (p.Gly2Cys)	SELENON (G2C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 384517	NM_020451.3(SELENON):c.9G>C (p.Arg3=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy +1 more	GLikely benign
Select item 95964	NM_020451.3(SELENON):c.42C>T (p.Pro14=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy +3 more	GBenign
Select item 261288	NM_020451.3(SELENON):c.81C>T (p.Arg27=)	SELENON	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 95955	NM_020451.3(SELENON):c.103G>C (p.Gly35Arg)	SELENON (G35R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 3372994	NM_020451.3(SELENON):c.125_136del (p.Ala42_Ala45del)	SELENON	Deletion	not provided	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 388454	NM_020451.3(SELENON):c.171G>A (p.Ala57=)	SELENON	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 385142	NM_020451.3(SELENON):c.183+11G>A	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy +1 more	GLikely benign
Select item 669363	NM_020451.3(SELENON):c.183+116G>A	SELENON	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1185798	NM_020451.3(SELENON):c.183+141G>T	SELENON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201085	NM_020451.3(SELENON):c.183+176G>A	SELENON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680770	NM_020451.3(SELENON):c.183+298T>G	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680773	NM_020451.3(SELENON):c.183+299T>C	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669827	NM_020451.3(SELENON):c.184-109G>A	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 523931	NM_020451.3(SELENON):c.249_250dup (p.Asp84fs)	SELENON (D84fs)	Duplication (frameshift variant)	Eichsfeld type congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 511092	NM_020451.3(SELENON):c.301+6A>T	SELENON	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 387555	NM_020451.3(SELENON):c.301+18C>T	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy +1 more	GLikely benign
Select item 679560	NM_020451.3(SELENON):c.301+114G>T	SELENON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669828	NM_020451.3(SELENON):c.302-200C>T	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183714	NM_020451.3(SELENON):c.302-8dup	SELENON	Duplication (intron variant)	not provided	GBenign
Select item 1268223	NM_020451.3(SELENON):c.302-8del	SELENON	Deletion (intron variant)	not provided	GBenign
Select item 3364464	NM_020451.3(SELENON):c.302-8_302-7delinsGA	SELENON	Indel (intron variant)	not provided	GUncertain significance
Select item 461633	NM_020451.3(SELENON):c.402_403+2del	SELENON	Deletion (splice donor variant +1 more)	Eichsfeld type congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1510088	NM_020451.3(SELENON):c.402G>A (p.Leu134=)	SELENON	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1186327	NM_020451.3(SELENON):c.404-329G>A	SELENON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669829	NM_020451.3(SELENON):c.404-174G>A	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679429	NM_020451.3(SELENON):c.404-115C>T	SELENON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 130284	NM_020451.3(SELENON):c.409A>G (p.Thr137Ala)	SELENON (T137A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 212148	NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)	SELENON (A139T +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +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)	not specified +3 more	GBenign
Select item 95965	NM_020451.3(SELENON):c.427GAG[5] (p.Glu146dup)	SELENON	Microsatellite (inframe_insertion)	Eichsfeld type congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 297023	NM_020451.3(SELENON):c.427G>A (p.Glu143Lys)	SELENON (E143K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 650863	NM_020451.3(SELENON):c.457G>A (p.Glu153Lys)	SELENON (E119K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 839523	NM_020451.3(SELENON):c.500C>T (p.Pro167Leu)	SELENON (P167L +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +1 more	GUncertain significance
Select item 514972	NM_020451.3(SELENON):c.537+16C>T	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy +1 more	GLikely benign
Select item 1178489	NM_020451.3(SELENON):c.537+205C>T	SELENON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269220	NM_020451.3(SELENON):c.538-253_538-209del	SELENON	Microsatellite (intron variant)	not provided	GBenign
Select item 1236053	NM_020451.3(SELENON):c.538-282GCCTGGGTGGGCTGT[3]	SELENON	Microsatellite (intron variant)	not provided	GBenign
Select item 1180931	NM_020451.3(SELENON):c.538-170G>A	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679430	NM_020451.3(SELENON):c.538-156C>T	SELENON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262044	NM_020451.3(SELENON):c.538-145C>G	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 423313	NM_020451.3(SELENON):c.538G>T (p.Val180Phe)	SELENON (V180F +1 more)	Single nucleotide variant (missense variant)	not provided	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 +2 more	GBenign/Likely benign
Select item 952054	NM_020451.3(SELENON):c.565C>T (p.Arg189Ter)	SELENON (R189* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 95966	NM_020451.3(SELENON):c.583G>A (p.Ala195Thr)	SELENON (A195T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 426716	NM_020451.3(SELENON):c.680A>G (p.Glu227Gly)	SELENON (E227G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419984	NM_020451.3(SELENON):c.683_689dup (p.Met230fs)	SELENON (M196fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 385285	NM_020451.3(SELENON):c.693C>T (p.Phe231=)	SELENON	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 4494	NM_020451.3(SELENON):c.713dup (p.Asn238fs)	SELENON (N238fs +1 more)	Duplication (frameshift variant)	Eichsfeld type congenital muscular dystrophy +2 more	GPathogenic
Select item 705910	NM_020451.3(SELENON):c.717C>T (p.Arg239=)	SELENON	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 261284	NM_020451.3(SELENON):c.729G>A (p.Pro243=)	SELENON	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 261286	NM_020451.3(SELENON):c.747+39C>T	SELENON	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 261287	NM_020451.3(SELENON):c.748-40G>A	SELENON	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 385998	NM_020451.3(SELENON):c.748-9C>T	SELENON	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 572467	NM_020451.3(SELENON):c.760C>T (p.Arg254Trp)	SELENON (R254W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 212149	NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer)	SELENON	Duplication (inframe_insertion)	not provided +3 more	GLikely pathogenic
Select item 198237	NM_020451.3(SELENON):c.846C>T (p.Ser282=)	SELENON	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 461635	NM_020451.3(SELENON):c.852C>T (p.Phe284=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy +1 more	GBenign/Likely benign
Select item 432743	NM_020451.3(SELENON):c.855C>G (p.Tyr285Ter)	SELENON (Y285* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 661968	NM_020451.3(SELENON):c.871C>T (p.Arg291Trp)	SELENON (R257W +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 280026	NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)	SELENON (R291Q +1 more)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 1244808	NM_020451.3(SELENON):c.872+100C>G	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264793	NM_020451.3(SELENON):c.872+215T>C	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680776	NM_020451.3(SELENON):c.873-261T>C	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191880	NM_020451.3(SELENON):c.873-168C>T	SELENON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 501497	NM_020451.3(SELENON):c.883G>A (p.Glu295Lys)	SELENON (E295K +1 more)	Single nucleotide variant (missense variant)	not provided +2 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)	Eichsfeld type congenital muscular dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 514475	NM_020451.3(SELENON):c.948C>T (p.His316=)	SELENON	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1313309	NM_020451.3(SELENON):c.976G>A (p.Val326Ile)	SELENON (V292I +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +1 more	GUncertain significance
Select item 95967	NM_020451.3(SELENON):c.981C>T (p.Arg327=)	SELENON	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 280493	NM_020451.3(SELENON):c.997_1000del (p.Val333fs)	SELENON (V299fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 513275	NM_020451.3(SELENON):c.1010+20C>T	SELENON	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 678967	NM_020451.3(SELENON):c.1010+72A>G	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678968	NM_020451.3(SELENON):c.1010+76G>A	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669830	NM_020451.3(SELENON):c.1010+141A>C	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679500	NM_020451.3(SELENON):c.1011-181T>C	SELENON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219758	NM_020451.3(SELENON):c.1011-128G>T	SELENON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298195	NM_020451.3(SELENON):c.1011-103T>A	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1371455	NM_020451.3(SELENON):c.1049G>C (p.Ser350Thr)	SELENON (S316T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 280366	NM_020451.3(SELENON):c.1090C>T (p.Gln364Ter)	SELENON (Q364* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 212146	NM_020451.3(SELENON):c.1092+6C>G	SELENON	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 388585	NM_020451.3(SELENON):c.1092+16G>C	SELENON	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign

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