C5774175[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582575	NM_002662.5(PLD1):c.3094C>T (p.Arg1032Ter)	PLD1 (R1032* +1 more)	Single nucleotide variant (nonsense)	Cardiac valvular defect, developmental	GLikely pathogenic
Select item 2441876	NM_002662.5(PLD1):c.2602C>T (p.Gln868Ter)	PLD1 (Q830* +1 more)	Single nucleotide variant (nonsense)	Cardiac valvular defect, developmental	GLikely pathogenic
Select item 1033940	NM_002662.5(PLD1):c.2569A>G (p.Ile857Val)	PLD1 (I819V +1 more)	Single nucleotide variant (missense variant)	Cardiac valvular defect, developmental +1 more	GConflicting classifications of pathogenicity
Select item 1033939	NM_002662.5(PLD1):c.2543+1G>T	PLD1	Single nucleotide variant (splice donor variant)	Cardiac valvular defect, developmental +1 more	GConflicting classifications of pathogenicity
Select item 1033938	NM_002662.5(PLD1):c.1543G>A (p.Ala515Thr)	PLD1 (A515T)	Single nucleotide variant (missense variant)	Cardiac valvular defect, developmental	GUncertain significance
Select item 2582520	NM_002662.5(PLD1):c.1403T>A (p.Val468Asp)	PLD1 (V468D)	Single nucleotide variant (missense variant)	Cardiac valvular defect, developmental	GLikely pathogenic
Select item 1030180	NM_002662.5(PLD1):c.1319G>A (p.Arg440His)	PLD1 (R440H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1033941	NM_002662.5(PLD1):c.893G>A (p.Arg298Gln)	PLD1 (R298Q)	Single nucleotide variant (missense variant)	Cardiac valvular defect, developmental +1 more	GUncertain significance
Select item 1029620	NM_002662.5(PLD1):c.91C>T (p.Arg31Trp)	PLD1 (R31W)	Single nucleotide variant (missense variant)	Cardiac valvular defect, developmental	GUncertain significance