C0410180[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1483960	NM_020451.3(SELENON):c.58C>T (p.Pro20Ser)	SELENON (P20S)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
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 663297	NM_020451.3(SELENON):c.125_136dup (p.Ala42_Ala45dup)	SELENON	Duplication (inframe_insertion)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 530812	NM_020451.3(SELENON):c.184-3C>T	SELENON	Single nucleotide variant (intron 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 195363	NM_020451.3(SELENON):c.253A>G (p.Met85Val)	SELENON (M85V)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +2 more	GUncertain significance
Select item 461631	NM_020451.3(SELENON):c.257A>G (p.Tyr86Cys)	SELENON (Y86C)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	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 945382	NM_020451.3(SELENON):c.372G>A (p.Trp124Ter)	SELENON (W124*)	Single nucleotide variant (nonsense +1 more)	Eichsfeld type congenital muscular dystrophy	GConflicting classifications of pathogenicity
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 530816	NM_020451.3(SELENON):c.430G>A (p.Glu144Lys)	SELENON (E144K +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +1 more	GUncertain significance
Select item 1323573	NM_020451.3(SELENON):c.446_447del (p.Pro149fs)	SELENON (P115fs +1 more)	Deletion (frameshift variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 373919	NM_020451.3(SELENON):c.482G>A (p.Arg161Gln)	SELENON (R161Q +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +5 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 1005238	NM_020451.3(SELENON):c.545G>A (p.Arg182His)	SELENON (R148H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1970518	NM_020451.3(SELENON):c.559G>A (p.Gly187Ser)	SELENON (G187S +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 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 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 162603	NM_020451.3(SELENON):c.716G>A (p.Arg239His)	SELENON (R239H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1042290	NM_020451.3(SELENON):c.728C>T (p.Pro243Leu)	SELENON (P209L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1323574	NM_020451.3(SELENON):c.748-2_760del	SELENON	Deletion (splice acceptor variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic/Likely pathogenic
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 1493895	NM_020451.3(SELENON):c.784C>T (p.Arg262Trp)	SELENON (R262W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 657794	NM_020451.3(SELENON):c.802C>T (p.Arg268Cys)	SELENON (R234C +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
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 2038343	NM_020451.3(SELENON):c.821C>G (p.Ala274Gly)	SELENON (A240G +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
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 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 947699	NM_020451.3(SELENON):c.989G>A (p.Arg330Gln)	SELENON (R330Q +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +1 more	GUncertain significance
Select item 530811	NM_020451.3(SELENON):c.1078G>A (p.Gly360Ser)	SELENON (G360S +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +1 more	GUncertain significance
Select item 297026	NM_020451.3(SELENON):c.1082A>G (p.Tyr361Cys)	SELENON (Y361C +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +1 more	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 297028	NM_020451.3(SELENON):c.1148GCA[1] (p.Ser384del)	SELENON (S384del +1 more)	Microsatellite (inframe_deletion)	SEPN1-related disorder +2 more	GConflicting classifications of pathogenicity
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 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 1052506	NM_020451.3(SELENON):c.1312G>A (p.Asp438Asn)	SELENON (D404N +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +1 more	GUncertain significance
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 662244	NM_020451.3(SELENON):c.1339G>A (p.Val447Met)	SELENON (V413M +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 212147	NM_020451.3(SELENON):c.1350C>G (p.Ile450Met)	SELENON (I450M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 596468	NM_020451.3(SELENON):c.1351C>G (p.Leu451Val)	SELENON (L451V +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +1 more	GUncertain significance
Select item 641007	NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe)	SELENON (S426F +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 655387	NM_020451.3(SELENON):c.1388-3C>T	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 4492	NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)	SELENON (R466Q +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 167675	NM_020451.3(SELENON):c.1450G>A (p.Glu484Lys)	SELENON (E484K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 578217	NM_020451.3(SELENON):c.1498C>G (p.Gln500Glu)	SELENON (Q500E +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 954063	NM_020451.3(SELENON):c.1510_1512del (p.Glu504del)	SELENON (E504del +1 more)	Deletion (inframe_deletion)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 286099	NM_020451.3(SELENON):c.1535C>T (p.Ala512Val)	SELENON (A512V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 95961	NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)	SELENON (E552K +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 1462722	NM_020451.3(SELENON):c.1765C>T (p.Gln589Ter)	SELENON (Q555* +1 more)	Single nucleotide variant (nonsense)	Eichsfeld type congenital muscular dystrophy	GUncertain significance

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Items: 54