C1856057[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1176807	NM_002454.3(MTRR):c.166G>A (p.Val56Met)	MTRR (V56M)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE +2 more	GPathogenic/Likely pathogenic
Select item 666994	NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)	MTRR (R114*)	Single nucleotide variant (nonsense +1 more)	Methylcobalamin deficiency type cblE +2 more	GPathogenic
Select item 354352	NM_002454.3(MTRR):c.505G>A (p.Val169Met)	MTRR (V169M)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE +2 more	GUncertain significance
Select item 354356	NM_002454.3(MTRR):c.739C>T (p.Pro247Ser)	MTRR (P247S)	Single nucleotide variant (missense variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +2 more	GLikely benign
Select item 1432431	NM_002454.3(MTRR):c.763C>T (p.Gln255Ter)	MTRR (Q255*)	Single nucleotide variant (nonsense +1 more)	Methylcobalamin deficiency type cblE +1 more	GPathogenic/Likely pathogenic
Select item 841408	NM_002454.3(MTRR):c.766G>T (p.Glu256Ter)	MTRR (E256*)	Single nucleotide variant (nonsense +1 more)	Methylcobalamin deficiency type cblE +2 more	GPathogenic
Select item 641747	NM_002454.3(MTRR):c.973C>A (p.Gln325Lys)	MTRR (Q325K)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE +2 more	GUncertain significance
Select item 138292	NM_002454.3(MTRR):c.1155G>A (p.Leu385=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 381274	NM_002454.3(MTRR):c.1326C>T (p.Leu442=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE +4 more	GBenign/Likely benign
Select item 1357137	NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg)	MTRR (G513R)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE +1 more	GUncertain significance
Select item 265421	NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)	MTRR (R525*)	Single nucleotide variant (nonsense +1 more)	Neural tube defects, folate-sensitive +2 more	GPathogenic