ClinVar for MedGen (Select 388073) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3899373	NM_025137.4(SPG11):c.2633_2634del (p.Tyr878fs)	SPG11 (Y878fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3897025	NM_025137.4(SPG11):c.80del (p.Pro27fs)	SPG11 (P27fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 3897024	NM_025137.4(SPG11):c.2873_2876del (p.Glu958fs)	SPG11 (E958fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 3897023	NM_025137.4(SPG11):c.3080_3111dup (p.Val1038delinsTyrMetLysHisThrLeuGlyLeuAsnPheTer)	SPG11	Duplication (nonsense)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 3897022	NM_025137.4(SPG11):c.3122_3124del (p.Arg1041del)	SPG11 (R1041del)	Deletion	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3897019	NM_025137.4(SPG11):c.3764T>A (p.Val1255Asp)	SPG11 (V1255D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 5 +1 more	GUncertain significance
Select item 3780658	NM_025137.4(SPG11):c.751C>T (p.Gln251Ter)	SPG11 (Q251*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 5 +2 more	GLikely pathogenic
Select item 3775654	NM_025137.4(SPG11):c.744GCA[1] (p.Gln251del)	SPG11 (Q251del)	Microsatellite (inframe_deletion)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3730438	NM_025137.4(SPG11):c.6754+14C>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3730258	NM_025137.4(SPG11):c.5867-17C>T	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3724997	NM_025137.4(SPG11):c.3774A>G (p.Leu1258=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3723931	NM_025137.4(SPG11):c.5330_5333del (p.Thr1777fs)	SPG11 (T1729fs +1 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3723258	NM_025137.4(SPG11):c.3013_3016del (p.Leu1005fs)	SPG11 (L1005fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3718508	NM_025137.4(SPG11):c.3651C>T (p.Val1217=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3718501	NM_025137.4(SPG11):c.2835-12A>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3717601	NM_025137.4(SPG11):c.5448G>A (p.Glu1816=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3712357	NM_025137.4(SPG11):c.234C>T (p.Cys78=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3710990	NM_025137.4(SPG11):c.6206-13_6206-12insGTG	SPG11	Insertion (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3708404	NM_025137.4(SPG11):c.6328G>A (p.Gly2110Arg)	SPG11 (G1997R +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3707940	NM_025137.4(SPG11):c.7000-8del	SPG11	Deletion (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3706353	NM_025137.4(SPG11):c.336A>G (p.Glu112=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3705103	NM_025137.4(SPG11):c.7209A>G (p.Thr2403=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3704520	NM_025137.4(SPG11):c.4224G>C (p.Glu1408Asp)	LOC130056973, SPG11 (E1408D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3703226	NM_025137.4(SPG11):c.3039-1G>T	SPG11	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 3701689	NM_025137.4(SPG11):c.6999+8A>C	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3701637	NM_025137.4(SPG11):c.4687del (p.Arg1563fs)	SPG11 (R1563fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3700511	NM_025137.4(SPG11):c.2044A>G (p.Ile682Val)	SPG11 (I682V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3699441	NM_025137.4(SPG11):c.1736-11T>A	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3698204	NM_025137.4(SPG11):c.3261T>G (p.Thr1087=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3694794	NM_025137.4(SPG11):c.6174dup (p.Arg2059fs)	SPG11 (R2011fs +1 more)	Duplication (frameshift variant +1 more)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3693295	NM_025137.4(SPG11):c.4725T>G (p.Phe1575Leu)	SPG11 (F1575L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3692949	NM_025137.4(SPG11):c.3520+1G>A	SPG11	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 3692690	NM_025137.4(SPG11):c.4906+16C>T	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3692666	NM_025137.4(SPG11):c.6999+17A>T	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3691949	NM_025137.4(SPG11):c.2491G>A (p.Asp831Asn)	SPG11 (D831N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3691895	NM_025137.4(SPG11):c.3164del (p.Gln1055fs)	SPG11 (Q1055fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3691741	NM_025137.4(SPG11):c.1170C>T (p.Asp390=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3691722	NM_025137.4(SPG11):c.834C>T (p.Asn278=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3691594	NM_025137.4(SPG11):c.1764T>C (p.Asp588=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3690556	NM_025137.4(SPG11):c.7083del (p.Phe2361fs)	SPG11 (F2361fs +2 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3689623	NM_025137.4(SPG11):c.4577C>T (p.Thr1526Ile)	SPG11 (T1526I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3689524	NM_025137.4(SPG11):c.5452del (p.Thr1818fs)	SPG11 (T1770fs +1 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3688145	NM_025137.4(SPG11):c.668-1G>A	SPG11	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 3687935	NM_025137.4(SPG11):c.2950G>T (p.Glu984Ter)	SPG11 (E984*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3686733	NM_025137.4(SPG11):c.852C>T (p.Asn284=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3686104	NM_025137.4(SPG11):c.4162-11A>C	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3685969	NM_025137.4(SPG11):c.18G>T (p.Gly6=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3685509	NM_025137.4(SPG11):c.3292-6A>C	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3684436	NM_025137.4(SPG11):c.6256C>T (p.Leu2086=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3684077	NM_025137.4(SPG11):c.2058C>G (p.Leu686=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3683651	NM_025137.4(SPG11):c.6460GAG[1] (p.Glu2155del)	SPG11 (E2042del +2 more)	Microsatellite	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3681574	NM_025137.4(SPG11):c.1891+15T>C	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3681245	NM_025137.4(SPG11):c.4794G>A (p.Leu1598=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3680855	NM_025137.4(SPG11):c.3462A>G (p.Ser1154=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3680810	NM_025137.4(SPG11):c.3406C>T (p.Pro1136Ser)	SPG11 (P1136S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3680473	NM_025137.4(SPG11):c.57C>T (p.Thr19=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3678537	NM_025137.4(SPG11):c.3882A>G (p.Arg1294=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3676322	NM_025137.4(SPG11):c.6226_6230del (p.Pro2076fs)	SPG11 (P1963fs +2 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3675042	NM_025137.4(SPG11):c.1372C>T (p.Gln458Ter)	SPG11 (Q458*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3672716	NM_025137.4(SPG11):c.2676T>C (p.Asp892=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3672682	NM_025137.4(SPG11):c.492A>G (p.Ser164=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3671634	NM_025137.4(SPG11):c.5076A>G (p.Val1692=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3671405	NM_025137.4(SPG11):c.2463A>G (p.Gln821=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3671396	NM_025137.4(SPG11):c.6855G>A (p.Val2285=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3671357	NM_025137.4(SPG11):c.6976C>G (p.Leu2326Val)	SPG11 (L2213V +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3670761	NM_025137.4(SPG11):c.348T>C (p.Tyr116=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3670655	NM_025137.4(SPG11):c.4162-19C>T	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3670400	NM_025137.4(SPG11):c.2317-9T>C	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3668523	NM_025137.4(SPG11):c.486C>T (p.Asn162=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3668355	NM_025137.4(SPG11):c.4558C>A (p.Leu1520Ile)	SPG11 (L1520I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3666793	NM_025137.4(SPG11):c.1574G>C (p.Arg525Thr)	SPG11 (R525T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3666292	NM_025137.4(SPG11):c.5550C>G (p.Asn1850Lys)	SPG11 (N1802K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3665520	NM_025137.4(SPG11):c.863A>T (p.Tyr288Phe)	SPG11 (Y288F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3664962	NM_025137.4(SPG11):c.5122-11A>C	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3663954	NM_025137.4(SPG11):c.7000-1G>A	SPG11	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 3663656	NM_025137.4(SPG11):c.2316+7A>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3662355	NM_025137.4(SPG11):c.4906+10T>C	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3660872	NM_025137.4(SPG11):c.6495C>T (p.Gly2165=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3659608	NM_025137.4(SPG11):c.6206-20C>A	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3657632	NM_025137.4(SPG11):c.4329A>G (p.Glu1443=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3656714	NM_025137.4(SPG11):c.2604C>T (p.Pro868=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3654262	NM_025137.4(SPG11):c.3893-17_3893-15del	SPG11	Microsatellite (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3654210	NM_025137.4(SPG11):c.7065G>C (p.Val2355=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3653609	NM_025137.4(SPG11):c.4302_4308dup (p.Glu1437fs)	LOC130056973, SPG11 (E1437fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3652160	NM_025137.4(SPG11):c.257+18G>T	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3649320	NM_025137.4(SPG11):c.4417C>T (p.Leu1473=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3649303	NM_025137.4(SPG11):c.3291+14T>C	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3646572	NM_025137.4(SPG11):c.6477+6T>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3646195	NM_025137.4(SPG11):c.5121+19T>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3645985	NM_025137.4(SPG11):c.6755-12T>C	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3645676	NM_025137.4(SPG11):c.498G>A (p.Leu166=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3645388	NM_025137.4(SPG11):c.7284G>A (p.Leu2428=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3643568	NM_025137.4(SPG11):c.3465C>T (p.Pro1155=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3643303	NM_025137.4(SPG11):c.1581A>T (p.Ser527=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3642732	NM_025137.4(SPG11):c.7323A>G (p.Leu2441=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3641976	NM_025137.4(SPG11):c.13del (p.Glu5fs)	SPG11 (E5fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3641757	NM_025137.4(SPG11):c.384C>G (p.Thr128=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3640450	NM_025137.4(SPG11):c.4293T>G (p.Leu1431=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3640245	NM_025137.4(SPG11):c.2245-13A>C	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3639156	NM_025137.4(SPG11):c.6343+17T>C	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign

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