C0410180[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193432	NM_020451.3(SELENON):c.13_22dup (p.Gln8fs)	SELENON (Q8fs)	Duplication (frameshift variant)	not provided +1 more	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 523931	NM_020451.3(SELENON):c.249_250dup (p.Asp84fs)	SELENON (D84fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 461633	NM_020451.3(SELENON):c.402_403+2del	SELENON	Deletion (splice donor variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1989851	NM_020451.3(SELENON):c.473T>C (p.Ile158Thr)	SELENON (I158T +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 837936	NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)	SELENON (R127* +1 more)	Single nucleotide variant (nonsense)	Congenital myopathy with fiber type disproportion +1 more	GPathogenic/Likely pathogenic
Select item 952054	NM_020451.3(SELENON):c.565C>T (p.Arg189Ter)	SELENON (R189* +1 more)	Single nucleotide variant (nonsense)	Eichsfeld type congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 4494	NM_020451.3(SELENON):c.713dup (p.Asn238fs)	SELENON (N238fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 930110	NM_020451.3(SELENON):c.746_747+36del	SELENON	Deletion (splice donor variant)	SELENON-related myopathy +2 more	GPathogenic
Select item 657794	NM_020451.3(SELENON):c.802C>T (p.Arg268Cys)	SELENON (R234C +1 more)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GPathogenic/Likely pathogenic
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 212149	NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer)	SELENON	Duplication (inframe_insertion)	Congenital myopathy 4A, autosomal dominant +3 more	GLikely pathogenic
Select item 944327	NM_020451.3(SELENON):c.863_864del (p.Val288fs)	SELENON (V254fs +1 more)	Microsatellite (frameshift variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic/Likely 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	GUncertain significance
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 198238	NM_020451.3(SELENON):c.872+2T>C	SELENON	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 657817	NM_020451.3(SELENON):c.873-2A>G	SELENON	Single nucleotide variant (splice acceptor variant)	Eichsfeld type congenital muscular dystrophy	GConflicting classifications of pathogenicity
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 297025	NM_020451.3(SELENON):c.878A>G (p.His293Arg)	SELENON (H293R +1 more)	Single nucleotide variant (missense variant)	SEPN1-related disorder +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)	not provided +5 more	GPathogenic/Likely pathogenic
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 280493	NM_020451.3(SELENON):c.997_1000del (p.Val333fs)	SELENON (V299fs +1 more)	Deletion (frameshift variant)	Congenital myopathy with fiber type disproportion +2 more	GPathogenic
Select item 837938	NM_020451.3(SELENON):c.1010+1G>A	SELENON	Single nucleotide variant (splice donor variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic/Likely pathogenic
Select item 1067976	NM_020451.3(SELENON):c.1011-1G>C	SELENON	Single nucleotide variant (splice acceptor variant)	Eichsfeld type congenital muscular dystrophy	GLikely pathogenic
Select item 199156	NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter)	SELENON (E366* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 586530	NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp)	SELENON (G371D +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
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 664698	NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter)	SELENON (E394* +1 more)	Single nucleotide variant (nonsense)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 835943	NM_020451.3(SELENON):c.1209dup (p.Lys404fs)	SELENON (K370fs +1 more)	Duplication (frameshift variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic/Likely pathogenic
Select item 95958	NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)	SELENON (R439* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 4493	NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser)	SELENON (W453S +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GLikely pathogenic
Select item 575921	NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter)	SELENON (Q459* +1 more)	Single nucleotide variant (nonsense)	Eichsfeld type congenital muscular dystrophy	GPathogenic/Likely pathogenic
Select item 641007	NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe)	SELENON (S426F +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
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 1415561	NM_020451.3(SELENON):c.1396C>T (p.Arg466Trp)	SELENON (R466W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4492	NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)	SELENON (R466Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 571063	NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp)	SELENON (R469W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 461629	NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln)	SELENON (R469Q +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic/Likely pathogenic
Select item 432162	NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu)	SELENON (S476L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 461630	NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter)	SELENON (W490* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 658952	NM_020451.3(SELENON):c.1501-1G>A	SELENON	Single nucleotide variant (splice acceptor variant)	Eichsfeld type congenital muscular dystrophy	GConflicting classifications of pathogenicity
Select item 1025827	NM_020451.3(SELENON):c.1574T>G (p.Met525Arg)	SELENON (M491R +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 1440645	NM_020451.3(SELENON):c.1735G>A (p.Glu579Lys)	SELENON (E579K +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance

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Items: 43