"PreventionGenetics, part of Exact Sciences"[submitter] AND "AFG3L2"[g - ClinVar - NCBI

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Items: 11

	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)	AFG3L2-related disorder +2 more	GBenign
Select item 3052257	NM_006796.3(AFG3L2):c.2176-7A>C	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant +1 more)	AFG3L2-related disorder	GLikely benign
Select item 3047282	NM_006796.3(AFG3L2):c.1227C>A (p.Ile409=)	AFG3L2	Single nucleotide variant (synonymous variant)	AFG3L2-related disorder	GLikely benign
Select item 2911255	NM_006796.3(AFG3L2):c.1218C>T (p.Ile406=)	AFG3L2	Single nucleotide variant (synonymous variant)	AFG3L2-related disorder +1 more	GLikely benign
Select item 136313	NM_006796.3(AFG3L2):c.1026+8G>A	AFG3L2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 326107	NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr)	AFG3L2 (A265T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3047922	NM_006796.3(AFG3L2):c.752+5T>G	AFG3L2	Single nucleotide variant (intron variant)	AFG3L2-related disorder	GLikely benign
Select item 423538	NM_006796.3(AFG3L2):c.580C>T (p.Arg194Cys)	AFG3L2 (R194C)	Single nucleotide variant (missense variant)	AFG3L2-related disorder +1 more	GUncertain significance
Select item 326108	NM_006796.3(AFG3L2):c.498C>T (p.Ser166=)	AFG3L2	Single nucleotide variant (synonymous variant)	AFG3L2-related disorder +3 more	GBenign
Select item 326114	NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro)	AFG3L2 (Q33P)	Single nucleotide variant (missense variant)	AFG3L2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3044162	NM_006796.3(AFG3L2):c.67C>T (p.Leu23Phe)	AFG3L2 (L23F)	Single nucleotide variant (missense variant)	AFG3L2-related disorder	GUncertain significance