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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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)	not provided +2 more	GPathogenic
Select item 426515	NM_020451.3(SELENON):c.4G>T (p.Gly2Cys)	SELENON (G2C)	Single nucleotide variant (missense variant)	not provided +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)	SEPN1-related disorder +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)	not provided +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)	not provided +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)	SEPN1-related disorder +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)	Joint laxity +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)	not provided +2 more	GPathogenic
Select item 162603	NM_020451.3(SELENON):c.716G>A (p.Arg239His)	SELENON (R239H +1 more)	Single nucleotide variant (missense variant)	SEPN1-related disorder +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)	not provided +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)	Ataxia-telangiectasia syndrome +2 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)	not provided +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)	Inborn genetic diseases +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)	Inborn genetic diseases +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)	SEPN1-related disorder +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)	Eichsfeld type congenital muscular dystrophy +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)	Inborn genetic diseases +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)	Eichsfeld type congenital muscular dystrophy +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)	Eichsfeld type congenital muscular dystrophy +1 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)	not provided +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)	SEPN1-related disorder +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54