C5393308[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1664876	NM_001042750.2(STAG2):c.45-11T>C	STAG2	Single nucleotide variant (intron variant)	Mullegama-Klein-Martinez syndrome +2 more	GBenign/Likely benign
Select item 1612997	NM_001042750.2(STAG2):c.1101T>C (p.Phe367=)	STAG2	Single nucleotide variant (synonymous variant)	Mullegama-Klein-Martinez syndrome +3 more	GBenign/Likely benign
Select item 367872	NM_002351.5(SH2D1A):c.48C>T (p.Gly16=)	SH2D1A	Single nucleotide variant (synonymous variant)	Mullegama-Klein-Martinez syndrome +4 more	GBenign/Likely benign

Format

Sort by

Choose Destination

ClinVar