C1848552[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 618213	NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys)	MMADHC (R248C)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD +1 more	GUncertain significance
Select item 1008950	NM_015702.3(MMADHC):c.609+6T>C	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GUncertain significance
Select item 657556	NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)	MMADHC (T152R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD	GUncertain significance
Select item 856679	NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)	MMADHC (A104V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD +1 more	GUncertain significance
Select item 331383	NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)	MMADHC (K29N)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +3 more	GBenign/Likely benign
Select item 2120	NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	TSEN54 (A307S)	Single nucleotide variant (missense variant)	Global developmental delay +14 more	GPathogenic

ClinVar