"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44159	NM_001232.4(CASQ2):c.1194T>C (p.Asp398=)	CASQ2, VANGL1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +7 more	GBenign/Likely benign
Select item 44158	NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)	CASQ2 (D398del)	Deletion	not specified +6 more	GConflicting classifications of pathogenicity
Select item 44157	NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)	VANGL1, CASQ2	Single nucleotide variant (synonymous variant)	Caudal regression sequence +6 more	GBenign/Likely benign
Select item 179599	NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)	CASQ2	Microsatellite (inframe_insertion)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 44155	NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)	CASQ2 (D383del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 44156	NM_001232.4(CASQ2):c.1148A>G (p.Asp383Gly)	CASQ2 (D383G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GUncertain significance
Select item 227209	NM_001232.4(CASQ2):c.1134T>A (p.Asp378Glu)	CASQ2 (D378E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 162809	NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp)	CASQ2 (E377D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 44154	NM_001232.4(CASQ2):c.1090dup (p.Asp364fs)	CASQ2 (D364fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 505012	NM_001232.4(CASQ2):c.1026C>T (p.Val342=)	CASQ2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 44153	NM_001232.4(CASQ2):c.1014+9C>T	CASQ2, VANGL1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +7 more	GBenign/Likely benign
Select item 44152	NM_001232.4(CASQ2):c.1005T>C (p.Asn335=)	CASQ2, VANGL1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +8 more	GBenign/Likely benign
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 162810	NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)	CASQ2 (D310N)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 162811	NM_001232.4(CASQ2):c.923C>A (p.Pro308Gln)	CASQ2 (P308Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 228470	NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser)	CASQ2 (A292S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 136657	NM_001232.4(CASQ2):c.861C>A (p.Ile287=)	CASQ2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 228469	NM_001232.4(CASQ2):c.783+3A>T	CASQ2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 44168	NM_001232.4(CASQ2):c.781T>C (p.Trp261Arg)	CASQ2 (W261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 162812	NM_001232.4(CASQ2):c.758G>A (p.Arg253His)	CASQ2 (R253H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 178880	NM_001232.4(CASQ2):c.757C>A (p.Arg253Ser)	CASQ2 (R253S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 228468	NM_001232.4(CASQ2):c.738-3C>A	CASQ2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 402495	NM_001232.4(CASQ2):c.738-6_738-5del	CASQ2	Deletion (intron variant)	not specified +4 more	GBenign
Select item 228471	NM_001232.3(CASQ2):c.[730C>T;731A>G]	CASQ2 (H244R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 35772	NM_001232.4(CASQ2):c.731A>G (p.His244Arg)	CASQ2 (H244R)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 227210	NM_001232.4(CASQ2):c.730C>T (p.His244Tyr)	CASQ2 (H244Y)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GConflicting classifications of pathogenicity
Select item 504525	NM_001232.4(CASQ2):c.607-15T>C	CASQ2	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 44169	NM_001232.4(CASQ2):c.578_580delinsAC (p.Ile193fs)	CASQ2 (I193fs)	Indel	Catecholaminergic polymorphic ventricular tachycardia	GLikely pathogenic
Select item 162814	NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)	CASQ2 (F189L)	Single nucleotide variant (missense variant)	CASQ2-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 178010	NM_001232.4(CASQ2):c.540G>A (p.Lys180=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GLikely benign
Select item 162816	NM_001232.4(CASQ2):c.533-6C>T	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GConflicting classifications of pathogenicity
Select item 44167	NM_001232.4(CASQ2):c.481A>G (p.Ile161Val)	CASQ2 (I161V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GConflicting classifications of pathogenicity
Select item 162817	NM_001232.4(CASQ2):c.479G>A (p.Arg160His)	CASQ2 (R160H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 44164	NM_001232.4(CASQ2):c.421-14G>A	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GConflicting classifications of pathogenicity
Select item 44166	NM_001232.4(CASQ2):c.421-15C>T	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GConflicting classifications of pathogenicity
Select item 44165	NM_001232.4(CASQ2):c.421-15C>G	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GConflicting classifications of pathogenicity
Select item 44163	NM_001232.4(CASQ2):c.420+6T>C	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GBenign
Select item 162818	NM_001232.4(CASQ2):c.376G>C (p.Asp126His)	CASQ2 (D126H)	Single nucleotide variant (missense variant)	not provided +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 162821	NM_001232.4(CASQ2):c.333A>G (p.Glu111=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely benign
Select item 505013	NM_001232.4(CASQ2):c.311A>C (p.Lys104Thr)	CASQ2 (K104T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 178011	NM_001232.4(CASQ2):c.270C>A (p.Gly90=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GConflicting classifications of pathogenicity
Select item 162819	NM_001232.4(CASQ2):c.234+3A>G	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 44162	NM_001232.4(CASQ2):c.226G>A (p.Val76Met)	CASQ2 (V76M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GBenign/Likely benign
Select item 44161	NM_001232.4(CASQ2):c.198G>A (p.Thr66=)	CASQ2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 44160	NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala)	CASQ2 (T66A)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 162822	NM_001232.4(CASQ2):c.177G>A (p.Pro59=)	CASQ2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 228467	NM_001232.4(CASQ2):c.173A>T (p.Glu58Val)	CASQ2 (E58V)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 667080	NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile)	CASQ2 (T27I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 162823	NM_001232.4(CASQ2):c.19T>C (p.Phe7Leu)	CASQ2 (F7L)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 50