"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 416834	NM_014363.6(SACS):c.9846A>G (p.Pro3282=)	SACS	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 130205	NM_014363.6(SACS):c.8853T>C (p.Val2951=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 212115	NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)	SACS (P2798Q +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 416832	NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn)	SACS (K2709N +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 260399	NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)	SACS (A2510T +1 more)	Single nucleotide variant (missense variant)	SACS-related condition +5 more	GConflicting classifications of pathogenicity
Select item 311526	NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)	SACS	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 240901	NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)	SACS (L2261I +1 more)	Single nucleotide variant (missense variant)	SACS-related condition +4 more	GConflicting classifications of pathogenicity
Select item 283782	NM_014363.6(SACS):c.6267G>A (p.Ser2089=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 130203	NM_014363.6(SACS):c.6195T>C (p.Ile2065=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 212114	NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)	SACS (N1489S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 283779	NM_014363.6(SACS):c.4188C>T (p.His1396=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 193706	NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)	SACS (M1359T +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1167598	NM_014363.6(SACS):c.3637T>C (p.Leu1213=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 240898	NM_014363.6(SACS):c.3129A>G (p.Ser1043=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 528031	NM_014363.6(SACS):c.2146C>T (p.His716Tyr)	SACS (H716Y +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +5 more	GBenign/Likely benign
Select item 240895	NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)	SACS (A694T +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 1297504	NM_014363.6(SACS):c.1925del (p.Gly642fs)	SACS (G495fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 130202	NM_014363.6(SACS):c.1656A>G (p.Leu552=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 282385	NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)	SACS (T458I +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 260401	NM_014363.6(SACS):c.909A>G (p.Ala303=)	SACS	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 130204	NM_014363.6(SACS):c.696T>A (p.Asn232Lys)	SACS (N232K +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 260393	NM_014363.6(SACS):c.171+6C>T	LOC130009366, SACS	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 260389	NM_014363.6(SACS):c.-13A>G	SACS	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign/Likely benign

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Items: 32