C4303789[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 526891	NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg)	COL1A2 (C18R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +8 more	GUncertain significance
Select item 423747	NM_000089.4(COL1A2):c.286A>G (p.Met96Val)	COL1A2 (M96V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +11 more	GUncertain significance
Select item 526896	NM_000089.4(COL1A2):c.671G>A (p.Arg224His)	COL1A2 (R224H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +9 more	GConflicting classifications of pathogenicity
Select item 456848	NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)	COL1A2 (G328S)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 35932	NM_000089.4(COL1A2):c.1036-14G>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +11 more	GBenign/Likely benign
Select item 456802	NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	COL1A2 (G358S)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic
Select item 579070	NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val)	COL1A2 (G376V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +8 more	GPathogenic
Select item 1547003	NM_000089.4(COL1A2):c.1170C>T (p.Ala390=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GLikely benign
Select item 35936	NM_000089.4(COL1A2):c.1383C>T (p.Pro461=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +12 more	GBenign/Likely benign
Select item 425650	NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val)	COL1A2 (G646V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +7 more	GPathogenic/Likely pathogenic
Select item 392356	NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln)	COL1A2 (R693Q)	Single nucleotide variant (missense variant)	not specified +13 more	GBenign/Likely benign
Select item 945567	NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys)	COL1A2 (R948C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +8 more	GUncertain significance
Select item 526887	NM_000089.4(COL1A2):c.2843G>A (p.Arg948His)	COL1A2 (R948H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +10 more	GUncertain significance
Select item 456827	NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr)	COL1A2 (I954T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +11 more	GBenign/Likely benign
Select item 216908	NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)	COL1A2 (G1012S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +9 more	GPathogenic/Likely pathogenic
Select item 281098	NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)	COL1A2 (P1016H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +11 more	GConflicting classifications of pathogenicity
Select item 373178	NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)	COL1A2 (N1285H)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +12 more	GConflicting classifications of pathogenicity