C1832550[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931786	NM_173076.3(ABCA12):c.7715A>G (p.Tyr2572Cys)	ABCA12, SNHG31 (Y2254C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2861	NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn)	ABCA12, SNHG31 (D2047N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 899256	NM_173076.3(ABCA12):c.5393C>T (p.Pro1798Leu)	ABCA12 (P1480L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +3 more	GConflicting classifications of pathogenicity
Select item 2855	NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser)	ABCA12 (N1380S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 334259	NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser)	ABCA12 (N678S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 262821	NM_173076.3(ABCA12):c.1765C>A (p.Pro589Thr)	ABCA12 (P589T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +4 more	GBenign/Likely benign
Select item 388614	NM_173076.3(ABCA12):c.130C>T (p.Arg44Trp)	ABCA12 (R44W)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4B +2 more	GLikely pathogenic

ClinVar