ClinVar for MedGen (Select 462555) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709841	NM_000791.4(DHFR):c.335T>G (p.Met112Arg)	DHFR (M112R +1 more)	Single nucleotide variant (missense variant)	Constitutional megaloblastic anemia with severe neurologic disease	GUncertain significance
Select item 790792	NM_000791.4(DHFR):c.-418GGCCGCTGC[1]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	Constitutional megaloblastic anemia with severe neurologic disease +3 more	GBenign/Likely benign
Select item 778209	NM_000791.4(DHFR):c.-400A>G	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 778197	NM_000791.4(DHFR):c.-259C>T	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 769652	NM_000791.4(DHFR):c.-409_-392del	DHFR, MSH3	Deletion	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 710203	NM_000791.4(DHFR):c.-406CGCTGCAGC[1]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 635180	NM_000791.4(DHFR):c.-416C>G	DHFR, MSH3 (A60P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 402591	NM_000791.4(DHFR):c.-473T>C	DHFR, MSH3 (I79V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GBenign
Select item 402590	NM_000791.4(DHFR):c.-442_-434del	MSH3, DHFR	Deletion (5 prime UTR variant +2 more)	not provided +3 more	GBenign
Select item 218608	NM_000791.4(DHFR):c.-437GGGGCGCTG[3]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	Constitutional megaloblastic anemia with severe neurologic disease +3 more	GConflicting classifications of pathogenicity
Select item 29674	NM_000791.4(DHFR):c.458A>T (p.Asp153Val)	DHFR (D153V +1 more)	Single nucleotide variant (missense variant +2 more)	Constitutional megaloblastic anemia with severe neurologic disease	GPathogenic
Select item 29673	NM_000791.4(DHFR):c.238C>T (p.Leu80Phe)	DHFR (L80F +1 more)	Single nucleotide variant (missense variant +1 more)	Constitutional megaloblastic anemia with severe neurologic disease	GPathogenic