C1849140[trait identifier] AND "Paris Brain Institute, Inserm - ICM"[s - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188912	NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)	SACS (R4325* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 371466	NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)	SACS (K4161fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 989009	NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter)	SACS (E4033* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 989008	NM_014363.6(SACS):c.12268C>A (p.His4090Asn)	SACS (H3943N +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 989007	NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro)	SACS (L3858P +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 370283	NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)	SACS (R3792* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 550274	NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs)	SACS (I3608fs +1 more)	Microsatellite (frameshift variant)	Spastic paraplegia +2 more	GPathogenic
Select item 989215	NM_014363.6(SACS):c.10932dup (p.Leu3645fs)	SACS (L3498fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 989214	NM_014363.6(SACS):c.10634_10635del (p.Val3545fs)	SACS (V3398fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 989213	NM_014363.6(SACS):c.8227del (p.His2743fs)	SACS (H2596fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 989212	NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro)	SACS (R2278P +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 989211	NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln)	SACS (P2070Q +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 552153	NM_014363.6(SACS):c.6172del (p.Ser2058fs)	SACS (S2058fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic/Likely pathogenic
Select item 989210	NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter)	SACS (C1895* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 989209	NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp)	SACS (Y1774D +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 448205	NM_014363.6(SACS):c.5151dup (p.Ser1718fs)	SACS (S1718fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 989208	NM_014363.6(SACS):c.4835dup (p.Phe1614fs)	SACS (F1467fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 989207	NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro)	SACS (R1428P +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 989206	NM_014363.6(SACS):c.4718T>G (p.Met1573Arg)	SACS (M1426R +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 989205	NM_014363.6(SACS):c.1358del (p.Gly453fs)	SACS (G306fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic
Select item 989204	NM_014363.6(SACS):c.914_915del (p.Thr305fs)	SACS (T158fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 989203	NM_014363.6(SACS):c.699del (p.Asp235fs)	SACS (D235fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 22