C3150921[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129602	NM_004268.5(MED17):c.251-8C>T	MED17	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 990609	NM_004268.5(MED17):c.325A>C (p.Met109Leu)	MED17 (M109L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 18441	NM_004268.5(MED17):c.1112T>C (p.Leu371Pro)	MED17 (L371P)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly +1 more	GPathogenic/Likely pathogenic
Select item 862218	NM_004268.5(MED17):c.1299_1302del (p.Ala435fs)	MED17 (A435fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1594611	NM_004268.5(MED17):c.1328+16G>A	MED17	Single nucleotide variant (intron variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly +1 more	GLikely benign
Select item 1070526	NM_004268.5(MED17):c.1360C>T (p.Arg454Ter)	MED17 (R454*)	Single nucleotide variant (nonsense)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly +1 more	GPathogenic/Likely pathogenic
Select item 129595	NM_004268.5(MED17):c.1482A>G (p.Gln494=)	MED17	Single nucleotide variant (synonymous variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly +2 more	GBenign/Likely benign
Select item 211481	NM_004268.5(MED17):c.1500G>A (p.Glu500=)	MED17	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign