C1843896[trait identifier] AND "deCODE genetics, Amgen"[submitter] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2574080	NM_004415.4(DSP):c.4336C>T (p.Gln1446Ter)	DSP (Q1446*)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic right ventricular dysplasia 8	GLikely pathogenic
Select item 2574081	NM_004415.4(DSP):c.4404_4410del (p.Leu1469fs)	DSP (L1469fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 8	GLikely pathogenic
Select item 2574082	NM_004415.4(DSP):c.4678C>T (p.Gln1560Ter)	DSP (Q1560*)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic right ventricular dysplasia 8	GLikely pathogenic
Select item 2574083	NM_004415.4(DSP):c.5840_5841dup (p.Gly1948fs)	DSP (G1349fs +2 more)	Microsatellite (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8	GLikely pathogenic
Select item 2574084	NM_004415.4(DSP):c.7762G>T (p.Glu2588Ter)	DSP (E1989* +2 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 8	GLikely pathogenic

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