"Clinical Genetics, Academic Medical Center"[submitter] AND "SPG11"[ge - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 241599	NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)	SPG11 (K2419R +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 220388	NM_025137.4(SPG11):c.7197G>A (p.Lys2399=)	SPG11	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 534836	NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr)	SPG11 (N2315T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 522343	NM_025137.4(SPG11):c.6878G>A (p.Arg2293Gln)	SPG11 (R2293Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +5 more	GUncertain significance
Select item 235362	NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)	SPG11 (D2253E +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +5 more	GConflicting classifications of pathogenicity
Select item 316079	NM_025137.4(SPG11):c.6755-17_6755-15del	SPG11	Microsatellite (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 390543	NM_025137.4(SPG11):c.6754+19A>G	SPG11	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 5 +3 more	GBenign
Select item 316080	NM_025137.4(SPG11):c.6477+13del	SPG11	Deletion (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 130367	NM_025137.4(SPG11):c.6330G>A (p.Gly2110=)	SPG11	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 188231	NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)	SPG11 (N2075S +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 534881	NM_025137.4(SPG11):c.5648G>A (p.Gly1883Glu)	SPG11 (G1883E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 406519	NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)	SPG11 (E1707D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +5 more	GConflicting classifications of pathogenicity
Select item 41305	NM_025137.4(SPG11):c.3420G>A (p.Leu1140=)	SPG11	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2X +4 more	GBenign
Select item 1104435	NM_025137.4(SPG11):c.3291+9A>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 194676	NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)	SPG11 (K1013E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +4 more	GConflicting classifications of pathogenicity
Select item 413995	NM_025137.4(SPG11):c.2656T>C (p.Tyr886His)	SPG11 (Y886H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 316099	NM_025137.4(SPG11):c.2621-15T>G	SPG11	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2X +2 more	GBenign/Likely benign
Select item 1209966	NM_025137.4(SPG11):c.2445-32dup	SPG11	Duplication (intron variant)	Amyotrophic lateral sclerosis type 5 +3 more	GBenign/Likely benign
Select item 522364	NM_025137.4(SPG11):c.2445-20del	SPG11	Deletion (intron variant)	Charcot-Marie-Tooth disease axonal type 2X +3 more	GBenign
Select item 212292	NM_025137.4(SPG11):c.2318T>G (p.Val773Gly)	SPG11 (V773G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +6 more	GUncertain significance
Select item 220566	NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)	SPG11 (A695T)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 219609	NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)	SPG11 (D566E)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 41271	NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser)	SPG11 (F463S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +4 more	GBenign
Select item 130364	NM_025137.4(SPG11):c.1348A>G (p.Ile450Val)	SPG11 (I450V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +4 more	GBenign/Likely benign
Select item 130363	NM_025137.4(SPG11):c.1347C>T (p.Thr449=)	SPG11	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 220565	NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)	SPG11 (E370K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +5 more	GBenign/Likely benign
Select item 316110	NM_025137.4(SPG11):c.993C>T (p.Ser331=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GBenign
Select item 316111	NM_025137.4(SPG11):c.833A>G (p.Asn278Ser)	SPG11 (N278S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +6 more	GBenign/Likely benign
Select item 41366	NM_025137.4(SPG11):c.808G>A (p.Val270Ile)	SPG11 (V270I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +6 more	GBenign/Likely benign
Select item 316115	NM_025137.4(SPG11):c.257+13G>A	SPG11	Single nucleotide variant (intron variant)	SPG11-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1284507	NM_025137.4(SPG11):c.23C>G (p.Ala8Gly)	SPG11 (A8G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GLikely benign

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Items: 31