ClinVar for MedGen (Select 462555) - ClinVar - NCBI

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Items: 12

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17098411.	NM_000791.4(DHFR):c.335T>G (p.Met112Arg) GRCh37: Chr5:79933736 GRCh38: Chr5:80637917	DHFR	M112R, M60R	Constitutional megaloblastic anemia with severe neurologic disease	Uncertain significance (Aug 25, 2021)	criteria provided, single submitter
Select item 7907922.	NM_000791.4(DHFR):c.-418GGCCGCTGC[1] GRCh37: Chr5:79950709-79950717 GRCh38: Chr5:80654890-80654898	DHFR, MSH3		Hereditary cancer-predisposing syndrome, not specified, Constitutional megaloblastic anemia with severe neurologic disease, not provided	Benign/Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 7782093.	NM_000791.4(DHFR):c.-400A>G GRCh37: Chr5:79950708 GRCh38: Chr5:80654889	DHFR, MSH3		not specified, Hereditary cancer-predisposing syndrome, not provided, Constitutional megaloblastic anemia with severe neurologic disease	Benign/Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 7781974.	NM_000791.4(DHFR):c.-259C>T GRCh37: Chr5:79950567 GRCh38: Chr5:80654748	DHFR, MSH3		not specified, Hereditary cancer-predisposing syndrome, not provided, Constitutional megaloblastic anemia with severe neurologic disease	Benign/Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 7696525.	NM_000791.4(DHFR):c.-409_-392del GRCh37: Chr5:79950700-79950717 GRCh38: Chr5:80654881-80654898	DHFR, MSH3		Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome, not provided, Constitutional megaloblastic anemia with severe neurologic disease	Benign/Likely benign (Nov 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7102036.	NM_000791.4(DHFR):c.-406CGCTGCAGC[1] GRCh37: Chr5:79950697-79950705 GRCh38: Chr5:80654878-80654886	DHFR, MSH3		not specified, Hereditary cancer-predisposing syndrome, Constitutional megaloblastic anemia with severe neurologic disease, not provided	Benign/Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 6351807.	NM_000791.4(DHFR):c.-416C>G GRCh37: Chr5:79950724 GRCh38: Chr5:80654905	MSH3, DHFR	A60P	Hereditary cancer-predisposing syndrome, not specified, not provided, Constitutional megaloblastic anemia with severe neurologic disease	Benign/Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4025918.	NM_000791.4(DHFR):c.-473T>C GRCh37: Chr5:79950781 GRCh38: Chr5:80654962	DHFR, MSH3	I79V	Hereditary cancer-predisposing syndrome, not specified, not provided, Constitutional megaloblastic anemia with severe neurologic disease	Benign (Nov 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4025909.	NM_000791.4(DHFR):c.-442_-434del GRCh37: Chr5:79950742-79950750 GRCh38: Chr5:80654923-80654931	DHFR, MSH3		Hereditary cancer-predisposing syndrome, not specified, not provided, Constitutional megaloblastic anemia with severe neurologic disease	Benign (Nov 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21860810.	NM_000791.4(DHFR):c.-437GGGGCGCTG[3] GRCh37: Chr5:79950727-79950728 GRCh38: Chr5:80654908-80654909	DHFR, MSH3		Hereditary cancer-predisposing syndrome, not provided, Constitutional megaloblastic anemia with severe neurologic disease, not specified	Conflicting interpretations of pathogenicity (Aug 15, 2023)	criteria provided, conflicting interpretations
Select item 2967411.	NM_000791.4(DHFR):c.458A>T (p.Asp153Val) GRCh37: Chr5:79929723 GRCh38: Chr5:80633904	DHFR	D153V, D101V	Constitutional megaloblastic anemia with severe neurologic disease	Pathogenic (Feb 11, 2011)	no assertion criteria provided
Select item 2967312.	NM_000791.4(DHFR):c.238C>T (p.Leu80Phe) GRCh37: Chr5:79945212 GRCh38: Chr5:80649393	DHFR	L80F, L28F	Constitutional megaloblastic anemia with severe neurologic disease	Pathogenic (Feb 11, 2011)	no assertion criteria provided