Related gene-specific medical variations for Gene (Select 441024) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296644	NM_001144978.3(MTHFD2L):c.930A>C (p.Glu310Asp)	LOC105377276, MTHFD2L (E252D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296641	NM_001144978.3(MTHFD2L):c.814A>G (p.Lys272Glu)	LOC105377276, MTHFD2L (K272E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 980094	GRCh37/hg19 4q13.3(chr4:75013465-75135837)x1	MTHFD2L	Copy number loss	not provided	GLikely benign

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