"OMIM"[submitter] AND "AFG3L2"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5473	NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln)	AFG3L2 (R702Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5472	NM_006796.3(AFG3L2):c.2081C>A (p.Ala694Glu)	AFG3L2 (A694E)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 28	GPathogenic
Select item 5470	NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys)	AFG3L2 (E691K)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 28	GPathogenic
Select item 5471	NM_006796.3(AFG3L2):c.2021_2022delinsTA (p.Ser674Leu)	AFG3L2 (S674L)	Indel (missense variant)	Spinocerebellar ataxia type 28	GPathogenic
Select item 30425	NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg)	AFG3L2 (G671R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 28	GPathogenic
Select item 30424	NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg)	AFG3L2 (M666R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 28	GPathogenic
Select item 30423	NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)	AFG3L2 (M666V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 28 +3 more	GPathogenic/Likely pathogenic
Select item 38387	NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)	AFG3L2 (T654I)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 28	GLikely pathogenic
Select item 973201	NM_006796.3(AFG3L2):c.1901_1902del (p.Val633_Ser634insTer)	AFG3L2	Microsatellite (nonsense)	Spastic ataxia 5	GPathogenic
Select item 162524	NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)	AFG3L2 (M625I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 973202	NM_006796.3(AFG3L2):c.1858C>A (p.Gln620Lys)	AFG3L2 (Q620K)	Single nucleotide variant (missense variant)	Spastic ataxia 5	GPathogenic
Select item 30427	NM_006796.3(AFG3L2):c.1847A>G (p.Tyr616Cys)	AFG3L2 (Y616C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 973106	NM_006796.3(AFG3L2):c.1541C>T (p.Pro514Leu)	AFG3L2 (P514L)	Single nucleotide variant (missense variant)	Optic atrophy 12 +2 more	GPathogenic
Select item 565275	NM_006796.3(AFG3L2):c.1402C>T (p.Arg468Cys)	AFG3L2 (R468C)	Single nucleotide variant (missense variant)	Optic atrophy 12	GPathogenic
Select item 546814	NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val)	AFG3L2 (A462V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 5474	NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr)	AFG3L2 (N432T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 28	GPathogenic
Select item 973105	NM_006796.3(AFG3L2):c.1220A>G (p.Asp407Gly)	AFG3L2 (D407G)	Single nucleotide variant (missense variant)	Optic atrophy 12 +2 more	GPathogenic
Select item 976488	NM_006796.3(AFG3L2):c.1010G>A (p.Gly337Glu)	AFG3L2	Single nucleotide variant (missense variant)	Optic atrophy 12	GPathogenic
Select item 973204	NM_006796.3(AFG3L2):c.916A>G (p.Lys306Glu)	AFG3L2 (K306E)	Single nucleotide variant (missense variant)	Spastic ataxia 5	GPathogenic