"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SACS"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 504206	NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?)	SACS	Microsatellite (frameshift variant +1 more)	Spastic paraplegia +2 more	GUncertain significance
Select item 731826	NM_014363.6(SACS):c.13284C>T (p.Tyr4428=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
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 557285	NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs)	SACS (F3926fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 559184	NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg)	SACS (Q3981R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 987464	NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter)	SACS (R3825* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 576121	NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr)	SACS (I3776T +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 990735	NM_014363.6(SACS):c.10819A>G (p.Ile3607Val)	SACS (I3460V +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 371410	NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)	SACS (L3379* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 1303158	NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn)	SACS (D3122N +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 1326491	NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg)	SACS (T3117R +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 586446	NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)	SACS (F3188L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 550294	NM_014363.6(SACS):c.9356GTC[1] (p.Arg3120del)	SACS (R3120del +1 more)	Microsatellite (inframe_deletion)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 280809	NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)	SACS (L3102* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia +3 more	GPathogenic
Select item 448227	NM_014363.6(SACS):c.8972G>A (p.Arg2991His)	SACS (R2991H +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 5512	NM_014363.6(SACS):c.8844del (p.Ile2949fs)	SACS (I2802fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +3 more	GPathogenic
Select item 260400	NM_014363.6(SACS):c.8345C>T (p.Ala2782Val)	SACS (A2782V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 235345	NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr)	SACS (A2782T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 448223	NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala)	SACS (G2772A +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 411694	NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)	SACS (I2749V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 458274	NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs)	SACS (L2255fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic
Select item 458272	NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys)	SACS (R2214C +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 649183	NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu)	SACS (Q2137E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 586434	NM_014363.6(SACS):c.5744A>G (p.His1915Arg)	SACS (H1915R +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 552380	NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile)	SACS (T1880I +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 311543	NM_014363.6(SACS):c.4936C>A (p.Leu1646Met)	SACS (L1646M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 436632	NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln)	SACS (E1634Q +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +3 more	GConflicting classifications of pathogenicity
Select item 458265	NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)	SACS (D1582N +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +2 more	GPathogenic/Likely pathogenic
Select item 193706	NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)	SACS (M1359T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 281206	NM_014363.6(SACS):c.2996T>C (p.Ile999Thr)	SACS (I999T +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1694083	NM_014363.6(SACS):c.2726G>T (p.Ser909Ile)	SACS (S762I +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +1 more	GUncertain significance
Select item 994936	NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)	SACS (P715L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 586428	NM_014363.6(SACS):c.2580A>G (p.Gln860=)	SACS	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia +3 more	GConflicting classifications of pathogenicity
Select item 1343984	NM_014363.6(SACS):c.2564T>C (p.Leu855Ser)	SACS (L708S +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 188856	NM_014363.6(SACS):c.2439_2440del (p.Val815fs)	SACS (V815fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +3 more	GPathogenic/Likely pathogenic
Select item 1343982	NM_014363.6(SACS):c.2225G>A (p.Arg742Gln)	SACS (R595Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1075545	NM_014363.6(SACS):c.1769_1770del (p.Val590fs)	SACS (V443fs +1 more)	Microsatellite (frameshift variant)	Spastic paraplegia +1 more	GPathogenic
Select item 311560	NM_014363.6(SACS):c.1640C>T (p.Pro547Leu)	SACS (P547L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 311570	NM_014363.6(SACS):c.944A>G (p.Asp315Gly)	SACS (D315G +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 527998	NM_014363.6(SACS):c.818T>A (p.Phe273Tyr)	SACS (F273Y +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 661678	NM_014363.6(SACS):c.434C>G (p.Ser145Ter)	SACS (S145*)	Single nucleotide variant (5 prime UTR variant +1 more)	SACS-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 1220103	NM_014363.6(SACS):c.21-162C>G	LOC130009366, SACS	Single nucleotide variant (5 prime UTR variant +1 more)	Charlevoix-Saguenay spastic ataxia +1 more	GLikely benign

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Items: 42