C1848552[trait identifier] AND "GeneReviews"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 219002	NM_015702.3(MMADHC):c.455dup (p.Cys153fs)	MMADHC (C153fs)	Duplication (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 766	NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup)	MMADHC	Duplication (inframe_insertion)	METHYLMALONIC ACIDURIA, cblD TYPE	GPathogenic
Select item 219000	NM_015702.3(MMADHC):c.228dup (p.Asn77fs)	MMADHC (N77fs)	Duplication (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	Gnot provided
Select item 765	NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter)	MMADHC (R54*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 218999	NM_015702.3(MMADHC):c.133dup (p.Ala45fs)	MMADHC (A45fs)	Duplication (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	Gnot provided
Select item 764	NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)	MMADHC	Deletion (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 219001	NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs)	MMADHC (L21fs)	Insertion (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
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