C1849140[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92657	NM_000231.3(SGCG):c.705T>C (p.Leu235=)	SACS, SGCG	Single nucleotide variant (synonymous variant)	Sarcoglycanopathy +5 more	GBenign/Likely benign
Select item 167681	NM_000231.3(SGCG):c.860A>G (p.Asn287Ser)	SACS, SGCG (N287S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 92652	NM_000231.3(SGCG):c.*13C>T	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	Sarcoglycanopathy +4 more	GBenign/Likely benign
Select item 311484	NM_000231.3(SGCG):c.*136T>C	SGCG, SACS	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GBenign/Likely benign
Select item 288428	NM_000231.3(SGCG):c.*254G>A	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GBenign/Likely benign
Select item 311486	NM_000231.3(SGCG):c.*295T>C	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 311489	NM_014363.6(SACS):c.*1292A>T	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 311490	NM_014363.6(SACS):c.*1200A>G	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883093	NM_014363.6(SACS):c.*1162C>G	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883094	NM_014363.6(SACS):c.*1142G>A	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883095	NM_014363.6(SACS):c.*1108G>A	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 311491	NM_014363.6(SACS):c.*1046CTTTA[1]	SACS, SGCG	Microsatellite (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more	GLikely benign
Select item 883096	NM_014363.6(SACS):c.*1039C>T	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 311492	NM_014363.6(SACS):c.*942A>G	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883866	NM_014363.6(SACS):c.*919T>C	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883867	NM_014363.6(SACS):c.*916T>A	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 311493	NM_014363.6(SACS):c.*882A>C	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883868	NM_014363.6(SACS):c.*821A>G	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 883869	NM_014363.6(SACS):c.*777T>C	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883870	NM_014363.6(SACS):c.*716T>G	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883871	NM_014363.6(SACS):c.*711A>G	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 311494	NM_014363.6(SACS):c.*677C>T	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia +2 more	GLikely benign
Select item 880575	NM_014363.6(SACS):c.*625T>A	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 880576	NM_014363.6(SACS):c.*569G>A	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 311495	NM_014363.6(SACS):c.*484T>C	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +2 more	GLikely benign
Select item 880577	NM_014363.6(SACS):c.*461G>A	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 880578	NM_014363.6(SACS):c.*394G>A	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 311496	NM_014363.6(SACS):c.*307A>G	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 881990	NM_014363.6(SACS):c.*222T>C	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 881991	NM_014363.6(SACS):c.*218T>C	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 193707	NM_014363.6(SACS):c.13717A>C (p.Asn4573His)	SACS (N4573H +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 881992	NM_014363.6(SACS):c.13563T>C (p.Asn4521=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 311497	NM_014363.6(SACS):c.13512A>G (p.Ala4504=)	SACS	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883158	NM_014363.6(SACS):c.13409A>G (p.Asn4470Ser)	SACS (N4323S +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 883159	NM_014363.6(SACS):c.13344C>T (p.Arg4448=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 311498	NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp)	SACS (Y4428D +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +1 more	GUncertain significance
Select item 883160	NM_014363.6(SACS):c.13281T>A (p.Thr4427=)	SACS	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 290508	NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)	SACS (D4346N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 311499	NM_014363.6(SACS):c.13031A>G (p.Asn4344Ser)	SACS (N4344S +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 699710	NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)	SACS (P4277S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 883161	NM_014363.6(SACS):c.12816C>T (p.Gly4272=)	SACS	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 458253	NM_014363.6(SACS):c.12813T>G (p.Pro4271=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 883937	NM_014363.6(SACS):c.12812C>T (p.Pro4271Leu)	SACS (P4124L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 883938	NM_014363.6(SACS):c.12765G>A (p.Arg4255=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 528026	NM_014363.6(SACS):c.12762C>T (p.Ser4254=)	SACS	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 311500	NM_014363.6(SACS):c.12700T>C (p.Tyr4234His)	SACS (Y4234H +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883939	NM_014363.6(SACS):c.12693T>C (p.Tyr4231=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 235607	NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)	SACS (N4217D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 883940	NM_014363.6(SACS):c.12647A>G (p.Asp4216Gly)	SACS (D4069G +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 240894	NM_014363.6(SACS):c.12597A>G (p.Pro4199=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 311501	NM_014363.6(SACS):c.12438G>A (p.Ser4146=)	SACS	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 130201	NM_014363.6(SACS):c.12304T>C (p.Leu4102=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 311502	NM_014363.6(SACS):c.12216T>A (p.Thr4072=)	SACS	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 311503	NM_014363.6(SACS):c.12063T>C (p.His4021=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 880653	NM_014363.6(SACS):c.12035T>C (p.Ile4012Thr)	SACS (I3865T +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 311504	NM_014363.6(SACS):c.11928T>C (p.Ser3976=)	SACS	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 373338	NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu)	SACS (I3962L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 311505	NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg)	SACS (K3931R +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 240893	NM_014363.6(SACS):c.11688G>A (p.Arg3896=)	SACS	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 311506	NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys)	SACS (W3803C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 576121	NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr)	SACS (I3776T +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 623825	NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)	SACS (P3689Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 260391	NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)	SACS (P3678A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 883217	NM_014363.6(SACS):c.11027C>T (p.Thr3676Ile)	SACS (T3676I +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 212109	NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)	SACS (A3661V +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 311507	NM_014363.6(SACS):c.10967C>G (p.Pro3656Arg)	SACS (P3656R +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 696616	NM_014363.6(SACS):c.10909A>G (p.Met3637Val)	SACS (M3490V +1 more)	Single nucleotide variant (missense variant)	SACS-related condition +2 more	GConflicting classifications of pathogenicity
Select item 311508	NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)	SACS (I3632M +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 240892	NM_014363.6(SACS):c.10821C>A (p.Ile3607=)	SACS	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 311509	NM_014363.6(SACS):c.10716C>G (p.Pro3572=)	SACS	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 883218	NM_014363.6(SACS):c.10705C>T (p.Leu3569Phe)	SACS (L3422F +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 311510	NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys)	SACS (E3567K +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 240890	NM_014363.6(SACS):c.10611A>G (p.Ala3537=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 311511	NM_014363.6(SACS):c.10576A>G (p.Ile3526Val)	SACS (I3526V +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 884011	NM_014363.6(SACS):c.10534G>C (p.Glu3512Gln)	SACS (E3365Q +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 884012	NM_014363.6(SACS):c.10515A>C (p.Ser3505=)	SACS	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 884013	NM_014363.6(SACS):c.10513T>C (p.Ser3505Pro)	SACS (S3358P +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 884014	NM_014363.6(SACS):c.10485G>A (p.Glu3495=)	SACS	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 311512	NM_014363.6(SACS):c.10443C>G (p.Leu3481=)	SACS	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia +3 more	GConflicting classifications of pathogenicity
Select item 130200	NM_014363.6(SACS):c.10338G>A (p.Gln3446=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign
Select item 528027	NM_014363.6(SACS):c.10305T>C (p.Ser3435=)	SACS	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 696178	NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile)	SACS (T3433I +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 696059	NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)	SACS (V3431L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 286521	NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)	SACS (K3425R +1 more)	Single nucleotide variant (missense variant)	SACS-related condition +3 more	GConflicting classifications of pathogenicity
Select item 130199	NM_014363.6(SACS):c.10106T>C (p.Val3369Ala)	SACS (V3369A +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 882123	NM_014363.6(SACS):c.10096C>T (p.His3366Tyr)	SACS (H3366Y +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 311513	NM_014363.6(SACS):c.10064T>G (p.Ile3355Arg)	SACS (I3355R +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 696269	NM_014363.6(SACS):c.10008A>G (p.Lys3336=)	SACS	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia +3 more	GConflicting classifications of pathogenicity
Select item 130206	NM_014363.6(SACS):c.9981T>C (p.Ala3327=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 882124	NM_014363.6(SACS):c.9903G>T (p.Leu3301=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 311514	NM_014363.6(SACS):c.9887C>T (p.Pro3296Leu)	SACS (P3296L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 287302	NM_014363.6(SACS):c.9852A>G (p.Thr3284=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 883268	NM_014363.6(SACS):c.9779A>G (p.Asp3260Gly)	SACS (D3113G +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883269	NM_014363.6(SACS):c.9572C>T (p.Thr3191Ile)	SACS (T3191I +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 448229	NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys)	SACS (R3184C +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 883270	NM_014363.6(SACS):c.9283C>G (p.Pro3095Ala)	SACS (P3095A +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 240904	NM_014363.6(SACS):c.9031A>G (p.Ile3011Val)	SACS (I3011V +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 311515	NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln)	SACS (R2997Q +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 790976	NM_014363.6(SACS):c.8958C>T (p.His2986=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 884077	NM_014363.6(SACS):c.8858A>C (p.Lys2953Thr)	SACS (K2806T +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance

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