C1859093[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 240703	NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu)	MCOLN1, PNPLA6 (V22L +2 more)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign
Select item 6607	NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)	PNPLA6 (R1031fs +3 more)	Duplication (frameshift variant)	not provided +7 more	GPathogenic
Select item 240694	NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr)	PNPLA6 (S994T +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance

Format

Sort by

Choose Destination

ClinVar