C2677794[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Search results

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 874142	NM_001232.4(CASQ2):c.*1207A>G	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 292116	NM_001232.4(CASQ2):c.*1052A>G	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 874143	NM_001232.4(CASQ2):c.*1023A>G	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 292119	NM_001232.4(CASQ2):c.*929C>T	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GUncertain significance
Select item 875070	NM_001232.4(CASQ2):c.*655C>T	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 875071	NM_001232.4(CASQ2):c.*636G>C	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 292120	NM_001232.4(CASQ2):c.*632G>C	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Caudal regression sequence +3 more	GBenign/Likely benign
Select item 875072	NM_001232.4(CASQ2):c.*574T>C	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2	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 292122	NM_001232.4(CASQ2):c.*482C>T	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Caudal regression sequence +3 more	GBenign/Likely benign
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 876004	NM_001232.4(CASQ2):c.*175T>G	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GConflicting classifications of pathogenicity
Select item 368821	NM_001232.4(CASQ2):c.*143G>A	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Caudal regression sequence +2 more	GBenign/Likely benign
Select item 292124	NM_001232.4(CASQ2):c.*138T>C	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 876985	NM_001232.4(CASQ2):c.*38G>A	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 44159	NM_001232.4(CASQ2):c.1194T>C (p.Asp398=)	CASQ2, VANGL1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
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 44157	NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)	CASQ2, VANGL1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GBenign/Likely benign
Select item 876986	NM_001232.4(CASQ2):c.1165G>T (p.Asp389Tyr)	CASQ2 (D389Y)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
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 292125	NM_001232.4(CASQ2):c.1121A>T (p.Asp374Val)	CASQ2 (D374V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 292126	NM_001232.4(CASQ2):c.1120G>A (p.Asp374Asn)	CASQ2 (D374N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2	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)	Catecholaminergic polymorphic ventricular tachycardia 1 +7 more	GBenign/Likely benign
Select item 874198	NM_001232.4(CASQ2):c.1014+3G>A	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 2	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 44152	NM_001232.4(CASQ2):c.1005T>C (p.Asn335=)	CASQ2, VANGL1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 190747	NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser)	CASQ2 (P329S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +4 more	GUncertain significance
Select item 292128	NM_001232.4(CASQ2):c.943G>A (p.Val315Ile)	CASQ2 (V315I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 162810	NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)	CASQ2 (D310N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 292129	NM_001232.4(CASQ2):c.926A>G (p.Asp309Gly)	CASQ2 (D309G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 518768	NM_001232.4(CASQ2):c.898G>A (p.Asp300Asn)	CASQ2 (D300N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 228470	NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser)	CASQ2 (A292S)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 292130	NM_001232.4(CASQ2):c.855G>C (p.Leu285=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 292131	NM_001232.4(CASQ2):c.846C>T (p.Tyr282=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GConflicting classifications of pathogenicity
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 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 875120	NM_001232.4(CASQ2):c.673A>G (p.Ile225Val)	CASQ2 (I225V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 162814	NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)	CASQ2 (F189L)	Single nucleotide variant (missense variant)	CASQ2-related condition +8 more	GConflicting classifications of pathogenicity
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 876074	NM_001232.4(CASQ2):c.533-12T>G	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GConflicting classifications of pathogenicity
Select item 876075	NM_001232.4(CASQ2):c.501C>G (p.Leu167=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 292132	NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys)	CASQ2 (E159K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 44164	NM_001232.4(CASQ2):c.421-14G>A	CASQ2	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 44166	NM_001232.4(CASQ2):c.421-15C>T	CASQ2	Single nucleotide variant (intron variant)	not specified +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 178011	NM_001232.4(CASQ2):c.270C>A (p.Gly90=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GConflicting classifications of pathogenicity
Select item 44162	NM_001232.4(CASQ2):c.226G>A (p.Val76Met)	CASQ2 (V76M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 463660	NM_001232.4(CASQ2):c.225C>T (p.Ile75=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GConflicting classifications of pathogenicity
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 44160	NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala)	CASQ2 (T66A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign
Select item 228467	NM_001232.4(CASQ2):c.173A>T (p.Glu58Val)	CASQ2 (E58V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 136658	NM_001232.4(CASQ2):c.-21G>A	CASQ2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 292133	NM_001232.4(CASQ2):c.-105A>G	CASQ2	Single nucleotide variant (5 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 292134	NM_001232.4(CASQ2):c.-137T>C	CASQ2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 292135	NM_001232.4(CASQ2):c.-206_-205dup	CASQ2	Microsatellite	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 874249	NM_001232.3(CASQ2):c.-206T>C	CASQ2	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 292140	NM_001232.4(CASQ2):c.-212_-211insATGTGT	CASQ2	Microsatellite	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 292143	NM_001232.3(CASQ2):c.-218T>C	CASQ2	Single nucleotide variant	not provided +1 more	GBenign
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 874250	NM_001232.3(CASQ2):c.-221G>A	CASQ2	Single nucleotide variant	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 292144	NM_001232.3(CASQ2):c.-222C>T	CASQ2	Single nucleotide variant	Catecholaminergic polymorphic ventricular tachycardia 2	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 292146	NM_001232.3(CASQ2):c.-226C>G	CASQ2	Single nucleotide variant	Catecholaminergic polymorphic ventricular tachycardia 2	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
Select item 875171	NM_001232.3(CASQ2):c.-261T>A	CASQ2	Single nucleotide variant	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance

ClinVar

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Items: 69