"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "SPG11"[gen - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 466568	NM_025137.4(SPG11):c.7253A>G (p.His2418Arg)	SPG11 (H2418R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 2584853	NM_025137.4(SPG11):c.7033C>T (p.Pro2345Ser)	SPG11 (P2232S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 466554	NM_025137.4(SPG11):c.6347C>G (p.Thr2116Arg)	SPG11 (T2116R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 572161	NM_025137.4(SPG11):c.6223_6224insGAA (p.Phe2074_Asn2075insArg)	SPG11	Insertion (inframe_insertion)	Charcot-Marie-Tooth disease axonal type 2X +2 more	GUncertain significance
Select item 41342	NM_025137.4(SPG11):c.6206-1G>C	SPG11	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 41315	NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs)	SPG11, LOC130056973 (Q1436fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 2585087	NM_025137.4(SPG11):c.4281C>G (p.Cys1427Trp)	LOC130056973, SPG11 (C1427W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 2585169	NM_025137.4(SPG11):c.3808del (p.Val1270fs)	SPG11 (V1270fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 2585103	NM_025137.4(SPG11):c.3453+1G>T	SPG11	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 2584936	NM_025137.4(SPG11):c.3057T>A (p.Cys1019Ter)	SPG11 (C1019*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 41285	NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)	SPG11 (Q716*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2X +2 more	GPathogenic/Likely pathogenic
Select item 425067	NM_025137.4(SPG11):c.2075T>C (p.Ile692Thr)	SPG11 (I692T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2627965	NM_025137.4(SPG11):c.814G>A (p.Val272Met)	SPG11 (V272M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1112	NM_025137.4(SPG11):c.733_734del (p.Met245fs)	SPG11 (M245fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2X +6 more	GPathogenic
Select item 2627389	NM_025137.4(SPG11):c.696T>A (p.Tyr232Ter)	SPG11 (Y232*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 800483	NM_025137.4(SPG11):c.442+5G>T	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 41294	NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)	SPG11 (W89*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2X +2 more	GPathogenic