"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "AFG3L2"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136316	NM_006796.3(AFG3L2):c.*2G>A	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 214057	NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)	AFG3L2, TUBB6 (L772F)	Single nucleotide variant (missense variant +1 more)	Spastic ataxia 5 +3 more	GConflicting classifications of pathogenicity
Select item 3380540	NM_006796.3(AFG3L2):c.2252C>A (p.Ala751Glu)	AFG3L2, TUBB6 (A751E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 136314	NM_006796.3(AFG3L2):c.1664-9T>C	AFG3L2	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 28 +2 more	GBenign
Select item 128287	NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)	AFG3L2	Single nucleotide variant (synonymous variant)	Spastic ataxia 5 +4 more	GBenign
Select item 1208526	NM_006796.3(AFG3L2):c.1616C>A (p.Ser539Tyr)	AFG3L2 (S539Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3380541	NM_006796.3(AFG3L2):c.1475G>A (p.Arg492Gln)	AFG3L2 (R492Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559261	NM_006796.3(AFG3L2):c.1426+25_1426+30dup	AFG3L2	Duplication (intron variant)	not provided	GUncertain significance
Select item 214053	NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu)	AFG3L2 (P466L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 128286	NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)	AFG3L2	Single nucleotide variant (synonymous variant)	Spastic ataxia 5 +4 more	GBenign
Select item 136313	NM_006796.3(AFG3L2):c.1026+8G>A	AFG3L2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3380542	NM_006796.3(AFG3L2):c.842C>T (p.Thr281Ile)	AFG3L2 (T281I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136312	NM_006796.3(AFG3L2):c.752+6C>T	AFG3L2	Single nucleotide variant (intron variant)	Spastic ataxia 5 +4 more	GBenign
Select item 1203872	NM_006796.3(AFG3L2):c.634G>A (p.Val212Ile)	AFG3L2 (V212I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 446812	NM_006796.3(AFG3L2):c.530A>G (p.Asn177Ser)	AFG3L2 (N177S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 418753	NM_006796.3(AFG3L2):c.292+2T>C	AFG3L2	Single nucleotide variant (splice donor variant)	not specified +1 more	GUncertain significance
Select item 2907786	NM_006796.3(AFG3L2):c.88C>T (p.Pro30Ser)	AFG3L2 (P30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance