"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC130067 - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 729352	NM_001098.3(ACO2):c.1617A>G (p.Pro539=)	ACO2, LOC130067544	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2635572	NM_001098.3(ACO2):c.1687_1696dup (p.Gln566fs)	ACO2, LOC130067544 (Q566fs)	Duplication (frameshift variant)	ACO2-related condition	GLikely pathogenic
Select item 1418114	NM_001098.3(ACO2):c.1708C>A (p.Pro570Thr)	ACO2, LOC130067544 (P570T)	Single nucleotide variant (missense variant)	ACO2-related condition +2 more	GUncertain significance

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ClinVar