C2749659[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 659887	NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)	SAMHD1 (K492fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 5 +1 more	GPathogenic/Likely pathogenic
Select item 582618	NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn)	SAMHD1 (S482N)	Single nucleotide variant (missense variant)	Chilblain lupus 2 +2 more	GConflicting classifications of pathogenicity
Select item 1341697	NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly)	SAMHD1 (R226G)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 659536	NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter)	SAMHD1 (R220*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 5 +1 more	GPathogenic/Likely pathogenic
Select item 4067	NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter)	SAMHD1 (R145*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 5 +1 more	GPathogenic
Select item 1637251	NM_015474.4(SAMHD1):c.144G>A (p.Glu48=)	SAMHD1	Single nucleotide variant (synonymous variant)	Chilblain lupus 2 +1 more	GLikely benign
Select item 1076058	NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter)	SAMHD1 (S23*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 5 +1 more	GPathogenic/Likely pathogenic

ClinVar