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

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379761	NM_002541.4(OGDH):c.8A>G (p.His3Arg)	OGDH (H3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559267	NM_002541.4(OGDH):c.39A>C (p.Pro13=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria +1 more	GBenign/Likely benign
Select item 559268	NM_002541.4(OGDH):c.345A>G (p.Glu115=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GBenign
Select item 559269	NM_002541.4(OGDH):c.396G>A (p.Ser132=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GBenign
Select item 559270	NM_002541.4(OGDH):c.637G>A (p.Ala213Thr)	OGDH (A213T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559271	NM_002541.4(OGDH):c.936-7G>A	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria +1 more	GBenign/Likely benign
Select item 3379762	NM_002541.4(OGDH):c.1591C>T (p.Arg531Cys)	OGDH (R527C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 471072	NM_002541.4(OGDH):c.1844C>T (p.Thr615Ile)	OGDH (T615I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 559272	NM_002541.4(OGDH):c.2784A>G (p.Thr928=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GBenign
Select item 559273	NM_002541.4(OGDH):c.2973G>A (p.Ala991=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GBenign
Select item 559274	NM_002541.4(OGDH):c.2988C>T (p.Thr996=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GBenign
Select item 559275	NM_002541.4(OGDH):c.3052G>A (p.Val1018Ile)	OGDH (V1018I +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GBenign
Select item 559276	NM_002541.4(OGDH):c.3063C>T (p.Asn1021=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GBenign