"Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University"[ - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2412594	NM_004415.4(DSP):c.170+2T>G	DSP, DSP-AS1	Single nucleotide variant (splice donor variant)	Arrhythmogenic cardiomyopathy	GLikely pathogenic
Select item 2412592	NM_004415.4(DSP):c.1352G>C (p.Arg451Pro)	DSP (R451P)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 572718	NM_004415.4(DSP):c.2497C>T (p.Gln833Ter)	DSP (Q833*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 855123	NM_004415.4(DSP):c.2848del (p.Ile950fs)	DSP (I950fs)	Deletion (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 2412593	NM_004415.4(DSP):c.3203_3204del (p.Glu1068fs)	DSP (E1068fs)	Microsatellite (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 654195	NM_004415.4(DSP):c.5210del (p.Gly1737fs)	DSP (G1737fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 222582	NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter)	DSP (R1951* +2 more)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GPathogenic/Likely pathogenic
Select item 2412591	NM_004415.4(DSP):c.6154C>T (p.Gln2052Ter)	DSP (Q1453* +2 more)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy	GPathogenic