C4014479[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 817375	NM_001374353.1(GLI2):c.162_163del (p.Leu55fs)	GLI2 (L55fs)	Microsatellite (frameshift variant +1 more)	Holoprosencephaly 9 +2 more	GLikely pathogenic
Select item 198528	NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys)	GLI2 (R374C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 194065	NM_001374353.1(GLI2):c.1935G>A (p.Ser645=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +3 more	GBenign/Likely benign
Select item 1411228	NM_001374353.1(GLI2):c.1990G>A (p.Val664Met)	GLI2 (V664M +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 235325	NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu)	GLI2 (F830L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 977414	NM_001374353.1(GLI2):c.3297C>G (p.Asn1099Lys)	GLI2 (N1099K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 330990	NM_001374353.1(GLI2):c.3886C>A (p.Pro1296Thr)	GLI2 (P1313T +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 194230	NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile)	GLI2 (M1444I +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +3 more	GBenign/Likely benign
Select item 259730	NM_001374353.1(GLI2):c.4530T>C (p.Gly1510=)	GLI2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 37081	NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro)	GLI2 (S1555P +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign