C1631597[trait identifier] AND "Molecular Diagnostic Laboratory for In - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44157	NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)	CASQ2, VANGL1	Single nucleotide variant (synonymous variant)	Caudal regression sequence +7 more	GBenign/Likely benign
Select item 520464	NM_001232.4(CASQ2):c.1122TGA[2] (p.Asp376del)	CASQ2 (D376del)	Microsatellite (inframe_deletion)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 44165	NM_001232.4(CASQ2):c.421-15C>G	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GConflicting classifications of pathogenicity
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 978365	NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu)	CASQ2 (K97E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 48035	NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)	LMNA (R401C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 165072	NM_001035.3(RYR2):c.649A>G (p.Ile217Val)	RYR2 (I217V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 201209	NM_001035.3(RYR2):c.1144G>A (p.Val382Met)	RYR2 (V382M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GConflicting classifications of pathogenicity
Select item 43728	NM_001035.3(RYR2):c.1359C>T (p.Ser453=)	RYR2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 2 +7 more	GBenign
Select item 463576	NM_001035.3(RYR2):c.1424A>G (p.Lys475Arg)	RYR2 (K475R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 43753	NM_001035.3(RYR2):c.1776A>T (p.Gly592=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GBenign
Select item 43755	NM_001035.3(RYR2):c.2046A>G (p.Thr682=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 36739	NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)	RYR2 (S756N)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 935174	NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn)	RYR2 (D849N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GConflicting classifications of pathogenicity
Select item 178117	NM_001035.3(RYR2):c.2755G>A (p.Val919Met)	RYR2 (V919M)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 43763	NM_001035.3(RYR2):c.2973A>G (p.Ser991=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +7 more	GBenign
Select item 161381	NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)	RYR2 (R1013Q)	Single nucleotide variant (missense variant)	Conduction disorder of the heart +6 more	GConflicting classifications of pathogenicity
Select item 43769	NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)	RYR2 (E1127G)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 43770	NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)	RYR2 (A1136V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GBenign/Likely benign
Select item 43782	NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly)	RYR2 (S1400G)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 178120	NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)	RYR2 (C1489R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GConflicting classifications of pathogenicity
Select item 412818	NM_001035.3(RYR2):c.4800C>T (p.Pro1600=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 201252	NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr)	RYR2 (S1638T)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 520469	NM_001035.3(RYR2):c.4972C>T (p.Leu1658Phe)	RYR2 (L1658F)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GUncertain significance
Select item 207950	NM_001035.3(RYR2):c.5278C>T (p.Arg1760Trp)	RYR2 (R1760W)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 229220	NM_001035.3(RYR2):c.5416G>A (p.Ala1806Thr)	RYR2 (A1806T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 201255	NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)	RYR2 (T1863M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +5 more	GConflicting classifications of pathogenicity
Select item 36746	NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)	RYR2 (G1885E)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GBenign
Select item 36747	NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser)	RYR2 (G1886S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GBenign/Likely benign
Select item 196996	NM_001035.3(RYR2):c.5712G>A (p.Leu1904=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 463609	NM_001035.3(RYR2):c.5756G>A (p.Arg1919Gln)	RYR2 (R1919Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GConflicting classifications of pathogenicity
Select item 191483	NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)	RYR2 (M1975V)	Single nucleotide variant (missense variant)	Conduction disorder of the heart +5 more	GConflicting classifications of pathogenicity
Select item 178121	NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met)	RYR2 (T2107M)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 43821	NM_001035.3(RYR2):c.7038A>C (p.Ala2346=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 36748	NM_001035.3(RYR2):c.7365C>T (p.Asp2455=)	RYR2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GBenign/Likely benign
Select item 227924	NM_001035.3(RYR2):c.8913T>C (p.Ile2971=)	RYR2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GConflicting classifications of pathogenicity
Select item 518481	NM_001035.3(RYR2):c.9698A>G (p.His3233Arg)	RYR2 (H3233R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 923613	NM_001035.3(RYR2):c.9703A>T (p.Met3235Leu)	RYR2 (M3235L)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 180500	NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser)	RYR2 (N3308S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GLikely benign
Select item 201394	NM_001035.3(RYR2):c.10024G>C (p.Ala3342Pro)	RYR2 (A3342P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 296748	NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln)	RYR2 (R3506Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GConflicting classifications of pathogenicity
Select item 520468	NM_001035.3(RYR2):c.12519A>G (p.Ile4173Met)	LOC126806068, RYR2 (I4173M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GUncertain significance
Select item 463557	NM_001035.3(RYR2):c.12540C>T (p.Gly4180=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 43722	NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met)	LOC126806068, RYR2 (T4281M)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 191546	NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)	LOC126806068, RYR2 (R4307C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 43746	NM_001035.3(RYR2):c.14481C>T (p.Ile4827=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign/Likely benign
Select item 67978	NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)	SCN5A (R18W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1E +10 more	GConflicting classifications of pathogenicity
Select item 227114	NM_006073.4(TRDN):c.1598-6dup	TRDN	Duplication	not provided +3 more	GBenign/Likely benign
Select item 16818	NM_001943.5(DSG2):c.166G>A (p.Val56Met)	DSG2 (V56M)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity

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Items: 49