"PreventionGenetics, part of Exact Sciences"[submitter] AND "ST20-MTHF - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 787962	NM_006441.4(MTHFS):c.420C>T (p.Asp140=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2144957	NM_006441.4(MTHFS):c.150A>G (p.Lys50=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +2 more)	MTHFS-related disorder +1 more	GLikely benign
Select item 1675582	NM_006441.4(MTHFS):c.117+7G>C	MTHFS, ST20-MTHFS	Single nucleotide variant (non-coding transcript variant +1 more)	MTHFS-related disorder +1 more	GBenign/Likely benign
Select item 1298631	NM_006441.4(MTHFS):c.54G>A (p.Lys18=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 2038995	NM_006441.4(MTHFS):c.14C>T (p.Ala5Val)	MTHFS, ST20-MTHFS (A5V)	Single nucleotide variant (missense variant +2 more)	MTHFS-related disorder +1 more	GBenign

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File