"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 915516	NM_001232.4(CASQ2):c.1195G>A (p.Glu399Lys)	CASQ2 (E399K)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 44158	NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)	CASQ2 (D398del)	Deletion	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
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 44155	NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)	CASQ2 (D383del)	Microsatellite (inframe_deletion)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1034524	NM_001232.4(CASQ2):c.1136A>T (p.Asp379Val)	CASQ2 (D379V)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 191441	NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly)	CASQ2 (D351G)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 44153	NM_001232.4(CASQ2):c.1014+9C>T	CASQ2, VANGL1	Single nucleotide variant (intron variant)	Caudal regression sequence +7 more	GBenign/Likely benign
Select item 44152	NM_001232.4(CASQ2):c.1005T>C (p.Asn335=)	CASQ2, VANGL1	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 190747	NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser)	CASQ2 (P329S)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 162810	NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)	CASQ2 (D310N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +5 more	GConflicting classifications of pathogenicity
Select item 1589700	NM_001232.4(CASQ2):c.912G>A (p.Leu304=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1329103	NM_001232.4(CASQ2):c.824A>T (p.Glu275Val)	CASQ2 (E275V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 915584	NM_001232.4(CASQ2):c.751C>T (p.Arg251Cys)	CASQ2 (R251C)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 915585	NM_001232.4(CASQ2):c.738-27dup	CASQ2	Duplication (intron variant)	Cardiomyopathy +3 more	GBenign
Select item 522228	NM_001232.4(CASQ2):c.738-8_738-5del	CASQ2	Deletion (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GBenign/Likely benign
Select item 522227	NM_001232.4(CASQ2):c.738-7_738-5del	CASQ2	Deletion (intron variant)	not provided +3 more	GBenign
Select item 522226	NM_001232.4(CASQ2):c.738-5del	CASQ2	Deletion (intron variant)	Cardiomyopathy +2 more	GBenign
Select item 402495	NM_001232.4(CASQ2):c.738-6_738-5del	CASQ2	Deletion (intron variant)	Cardiomyopathy +4 more	GBenign
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 162814	NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)	CASQ2 (F189L)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 178010	NM_001232.4(CASQ2):c.540G>A (p.Lys180=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 915586	NM_001232.4(CASQ2):c.532T>C (p.Tyr178His)	CASQ2 (Y178H)	Single nucleotide variant (missense variant)	Cardiomyopathy	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 1 +4 more	GUncertain significance
Select item 415252	NM_001232.4(CASQ2):c.423A>G (p.Leu141=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 626362	NM_001232.4(CASQ2):c.382G>A (p.Glu128Lys)	CASQ2 (E128K)	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)	not specified +5 more	GUncertain significance
Select item 1329102	NM_001232.4(CASQ2):c.240G>A (p.Val80=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 44162	NM_001232.4(CASQ2):c.226G>A (p.Val76Met)	CASQ2 (V76M)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 44161	NM_001232.4(CASQ2):c.198G>A (p.Thr66=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 915587	NM_001232.4(CASQ2):c.5A>G (p.Lys2Arg)	CASQ2 (K2R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 30