C3278481[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 716367	NM_020461.4(TUBGCP6):c.4339T>C (p.Leu1447=)	TUBGCP6	Single nucleotide variant (synonymous variant)	Microcephaly and chorioretinopathy 1 +1 more	GLikely benign
Select item 437148	NM_020461.4(TUBGCP6):c.3396T>C (p.Asn1132=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 966787	NM_020461.4(TUBGCP6):c.3288T>G (p.Asp1096Glu)	TUBGCP6 (D1096E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 966786	NM_020461.4(TUBGCP6):c.3043G>A (p.Glu1015Lys)	TUBGCP6 (E1015K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 954314	NM_020461.4(TUBGCP6):c.2765T>C (p.Leu922Pro)	TUBGCP6 (L922P)	Single nucleotide variant (missense variant)	Microcephaly and chorioretinopathy 1 +1 more	GUncertain significance
Select item 719310	NM_020461.4(TUBGCP6):c.2487C>G (p.Val829=)	TUBGCP6	Single nucleotide variant (synonymous variant)	Microcephaly and chorioretinopathy 1 +1 more	GBenign/Likely benign
Select item 437169	NM_020461.4(TUBGCP6):c.2066-6A>G	TUBGCP6	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 940445	NM_020461.4(TUBGCP6):c.1225C>T (p.Arg409Cys)	TUBGCP6 (R409C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1164780	NM_020461.4(TUBGCP6):c.681C>T (p.Asp227=)	TUBGCP6	Single nucleotide variant (synonymous variant)	Microcephaly and chorioretinopathy 1 +1 more	GBenign/Likely benign