C1855128[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065323	NM_000254.3(MTR):c.2406-1G>A	MTR	Single nucleotide variant (splice acceptor variant +1 more)	Methylcobalamin deficiency type cblG	GLikely pathogenic
Select item 14278	NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)	MTR (P1173L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic