"PreventionGenetics, part of Exact Sciences"[submitter] AND "GFM2"[gen - ClinVar - NCBI

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

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137479	NM_032380.5(GFM2):c.2230C>G (p.Arg744Gly)	GFM2 (R744G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1901567	NM_032380.5(GFM2):c.1899C>T (p.Ser633=)	GFM2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 214505	NM_032380.5(GFM2):c.1880T>C (p.Ile627Thr)	GFM2 (I627T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 3055094	NM_032380.5(GFM2):c.1510+36G>A	GFM2	Single nucleotide variant (3 prime UTR variant +1 more)	GFM2-related disorder	GLikely benign
Select item 3051331	NM_032380.5(GFM2):c.1479C>T (p.Thr493=)	GFM2	Single nucleotide variant (synonymous variant +1 more)	GFM2-related disorder	GLikely benign
Select item 1136341	NM_032380.5(GFM2):c.1234C>T (p.Arg412Cys)	GFM2 (R365C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 137474	NM_032380.5(GFM2):c.1188G>A (p.Gln396=)	GFM2	Single nucleotide variant (synonymous variant +2 more)	GFM2-related disorder +2 more	GBenign/Likely benign
Select item 2630553	NM_032380.5(GFM2):c.1104T>A (p.Cys368Ter)	GFM2 (C368* +1 more)	Single nucleotide variant (nonsense +2 more)	GFM2-related disorder	GLikely pathogenic
Select item 3046526	NM_032380.5(GFM2):c.1101A>G (p.Leu367=)	GFM2	Single nucleotide variant (synonymous variant +2 more)	GFM2-related disorder	GLikely benign
Select item 377925	NM_032380.5(GFM2):c.777G>A (p.Lys259=)	GFM2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 422721	NM_032380.5(GFM2):c.669+7del	GFM2	Deletion (intron variant)	GFM2-related disorder +2 more	GBenign/Likely benign
Select item 3051160	NM_032380.5(GFM2):c.430+8A>G	GFM2	Single nucleotide variant (intron variant)	GFM2-related disorder	GLikely benign
Select item 3046457	NM_032380.5(GFM2):c.305-6G>C	GFM2	Single nucleotide variant (intron variant)	GFM2-related disorder	GLikely benign
Select item 3059898	NM_032380.5(GFM2):c.304+9G>A	GFM2	Single nucleotide variant (intron variant)	GFM2-related disorder	GLikely benign