"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CASQ2"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 292119	NM_001232.4(CASQ2):c.*929C>T	CASQ2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 292121	NM_001232.4(CASQ2):c.*503G>A	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 292123	NM_001232.4(CASQ2):c.*457C>T	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 876003	NM_001232.4(CASQ2):c.*332A>T	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GUncertain significance
Select item 191439	NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn)	CASQ2 (D396N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +5 more	GUncertain significance
Select item 179599	NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)	CASQ2	Microsatellite (inframe_insertion)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1387985	NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg)	CASQ2 (W361R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 1498700	NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu)	CASQ2 (M344L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 292127	NM_001232.4(CASQ2):c.1006G>A (p.Val336Ile)	CASQ2 (V336I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GUncertain significance
Select item 190747	NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser)	CASQ2 (P329S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 1055546	NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr)	CASQ2 (I324T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 292128	NM_001232.4(CASQ2):c.943G>A (p.Val315Ile)	CASQ2 (V315I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GUncertain significance
Select item 228247	NM_001232.4(CASQ2):c.940-1G>T	CASQ2	Single nucleotide variant (splice acceptor variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GLikely pathogenic
Select item 519365	NM_001232.4(CASQ2):c.939+1G>T	CASQ2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GPathogenic/Likely pathogenic
Select item 1147911	NM_001232.4(CASQ2):c.927C>T (p.Asp309=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 811814	NM_001232.4(CASQ2):c.926A>T (p.Asp309Val)	CASQ2 (D309V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GUncertain significance
Select item 190755	NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)	CASQ2 (P308L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GPathogenic/Likely pathogenic
Select item 519436	NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser)	CASQ2 (N298S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 939550	NM_001232.4(CASQ2):c.877C>T (p.Arg293Trp)	CASQ2 (R293W)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GUncertain significance
Select item 574983	NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn)	CASQ2 (I287N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 1442304	NM_001232.4(CASQ2):c.793T>G (p.Leu265Val)	CASQ2 (L265V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 162812	NM_001232.4(CASQ2):c.758G>A (p.Arg253His)	CASQ2 (R253H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 191442	NM_001232.4(CASQ2):c.752G>A (p.Arg251His)	CASQ2 (R251H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 572954	NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys)	CASQ2 (R250C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 915585	NM_001232.4(CASQ2):c.738-27dup	CASQ2	Duplication (intron variant)	not provided +3 more	GBenign
Select item 502421	NM_001232.4(CASQ2):c.738-11_738-5del	CASQ2	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 35772	NM_001232.4(CASQ2):c.731A>G (p.His244Arg)	CASQ2 (H244R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GBenign/Likely benign
Select item 580505	NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser)	CASQ2 (P231S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 190744	NM_001232.4(CASQ2):c.633G>T (p.Met211Ile)	CASQ2 (M211I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GUncertain significance
Select item 420366	NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn)	CASQ2 (K205N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 1367739	NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)	CASQ2 (Y192*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GPathogenic/Likely pathogenic
Select item 222522	NM_001232.4(CASQ2):c.546del (p.Phe182fs)	CASQ2 (F182fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GPathogenic/Likely pathogenic
Select item 190742	NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile)	CASQ2 (S173I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GUncertain significance
Select item 190741	NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr)	CASQ2 (I168T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 532351	NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys)	CASQ2 (Y164C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 1057873	NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr)	CASQ2 (I161T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 292132	NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys)	CASQ2 (E159K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +4 more	GUncertain significance
Select item 950162	NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu)	CASQ2 (F137L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 162818	NM_001232.4(CASQ2):c.376G>C (p.Asp126His)	CASQ2 (D126H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 162820	NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn)	CASQ2 (S113N)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 449737	NM_001232.4(CASQ2):c.324TGA[1] (p.Asp109del)	CASQ2 (D109del)	Microsatellite (inframe_deletion)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 968797	NM_001232.4(CASQ2):c.326A>T (p.Asp109Val)	CASQ2 (D109V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 377624	NM_001232.4(CASQ2):c.320-18C>T	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GBenign/Likely benign
Select item 453032	NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe)	CASQ2 (L79F)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GUncertain significance
Select item 190759	NM_001232.4(CASQ2):c.213del (p.Gln71fs)	CASQ2 (Q71fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GPathogenic/Likely pathogenic
Select item 838554	NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe)	CASQ2 (C53F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 862119	NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln)	CASQ2 (R33Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GPathogenic/Likely pathogenic
Select item 41043	NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)	CASQ2 (R33*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GPathogenic/Likely pathogenic
Select item 852876	NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys)	CASQ2 (Y28C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 41042	NM_001232.4(CASQ2):c.62del (p.Glu21fs)	CASQ2 (E21fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GPathogenic
Select item 292135	NM_001232.4(CASQ2):c.-206_-205dup	CASQ2	Microsatellite	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 292140	NM_001232.4(CASQ2):c.-212_-211insATGTGT	CASQ2	Microsatellite	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 292142	NM_001232.4(CASQ2):c.-219_-218insCGTGTG	CASQ2	Microsatellite	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 292141	NM_001232.4(CASQ2):c.-218delinsCGTGCGTGC	CASQ2	Indel	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 292145	NM_001232.3(CASQ2):c.-225G>A	CASQ2	Single nucleotide variant	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 292147	NM_001232.3(CASQ2):c.-234C>A	CASQ2	Single nucleotide variant	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance

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Items: 56