C2675187[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160061	NM_001048166.1(STIL):c.3067G>T (p.Val1023Leu)	STIL (V1022L +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +1 more	GUncertain significance
Select item 194209	NM_001048166.1(STIL):c.2362G>A (p.Val788Ile)	STIL (V788I +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 449275	NM_001048166.1(STIL):c.2132C>T (p.Ser711Leu)	STIL (S711L +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 160054	NM_001048166.1(STIL):c.2018GTT[1] (p.Cys674del)	STIL (C674del +1 more)	Microsatellite (inframe_deletion)	Microcephaly 7, primary, autosomal recessive +1 more	GUncertain significance
Select item 160053	NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly)	STIL (S673G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 876725	NM_001048166.1(STIL):c.1893T>G (p.Asp631Glu)	STIL (D631E +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +1 more	GUncertain significance
Select item 1206262	NM_001048166.1(STIL):c.1700C>T (p.Pro567Leu)	STIL (P520L +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 160049	NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe)	STIL (S379F +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 282750	NM_001048166.1(STIL):c.892A>G (p.Asn298Asp)	STIL (N298D +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 160068	NM_001048166.1(STIL):c.467A>G (p.His156Arg)	STIL (H156R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance