C1832594[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 772609	NM_001130144.3(LTBP3):c.3519A>G (p.Gln1173=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome +3 more	GBenign/Likely benign
Select item 1563314	NM_001130144.3(LTBP3):c.2107+13C>T	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GBenign/Likely benign
Select item 697813	NM_001130144.3(LTBP3):c.1077C>T (p.Cys359=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GBenign
Select item 1446821	NM_001130144.3(LTBP3):c.76CTG[6] (p.Leu32_Leu35del)	LTBP3	Microsatellite (inframe_deletion +1 more)	Geleophysic dysplasia 3 +1 more	GUncertain significance

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