Related gene-specific medical variations for Gene (Select 5052) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2701912	NM_181697.3(PRDX1):c.551del (p.Ile184fs)	MMACHC, PRDX1 (I184fs)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1927058	NM_181697.3(PRDX1):c.554A>C (p.Lys185Thr)	MMACHC, PRDX1 (K185T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1902458	NM_181697.3(PRDX1):c.523G>T (p.Ala175Ser)	MMACHC, PRDX1 (A175S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1665330	NM_181697.3(PRDX1):c.558T>C (p.Pro186=)	MMACHC, PRDX1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1251776	NM_181697.3(PRDX1):c.515-171_515-170del	MMACHC, PRDX1	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 495210	NM_181697.3(PRDX1):c.515-2A>T	MMACHC, PRDX1	Single nucleotide variant (3 prime UTR variant +1 more)	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC	GPathogenic
Select item 495209	NM_181697.3(PRDX1):c.515-1G>T	MMACHC, PRDX1	Single nucleotide variant (3 prime UTR variant +1 more)	Cobalamin C disease +1 more	GPathogenic

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