ClinVar for Gene (Select 10345) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245994	NC_000006.11:g.(?_123836792)_(123837316_?)del	TRDN	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely pathogenic
Select item 3245993	NC_000006.11:g.(?_123653004)_(123658834_?)del	TRDN	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3245992	NC_000006.11:g.(?_123892048)_(123957920_?)del	TRDN	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 3245991	NC_000006.11:g.(?_123759188)_(123957920_?)del	TRDN	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 3245990	NC_000006.11:g.(?_123957879)_(123957920_?)del	TRDN	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3225254	NM_006073.4(TRDN):c.955G>C (p.Ala319Pro)	TRDN (A299P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225253	NM_006073.4(TRDN):c.817A>G (p.Met273Val)	TRDN (M273V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3225252	NM_006073.4(TRDN):c.793+1G>A	TRDN (G265D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3225251	NM_006073.4(TRDN):c.763A>G (p.Lys255Glu)	TRDN (K255E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225250	NM_006073.4(TRDN):c.286A>G (p.Met96Val)	TRDN (M96V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3225249	NM_006073.4(TRDN):c.22G>C (p.Gly8Arg)	TRDN (G8R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3225248	NM_006073.4(TRDN):c.2188T>C (p.Ter730Gln)	TRDN	Single nucleotide variant (stop lost)	Cardiovascular phenotype	GUncertain significance
Select item 3225247	NM_006073.4(TRDN):c.2133C>T (p.Arg711=)	TRDN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225246	NM_006073.4(TRDN):c.2089T>G (p.Tyr697Asp)	TRDN (Y697D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225245	NM_006073.4(TRDN):c.1993C>A (p.Pro665Thr)	TRDN (P665T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225244	NM_006073.4(TRDN):c.195C>T (p.Ile65=)	TRDN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225243	NM_006073.4(TRDN):c.1917A>G (p.Arg639=)	TRDN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225242	NM_006073.4(TRDN):c.1864A>T (p.Ser622Cys)	TRDN (S622C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225241	NM_006073.4(TRDN):c.1822A>C (p.Thr608Pro)	TRDN (T608P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225240	NM_006073.4(TRDN):c.1716A>G (p.Lys572=)	TRDN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225239	NM_006073.4(TRDN):c.1711G>A (p.Glu571Lys)	TRDN (E571K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225238	NM_006073.4(TRDN):c.1682T>C (p.Val561Ala)	TRDN (V561A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225237	NM_006073.4(TRDN):c.1633A>G (p.Ile545Val)	TRDN (I545V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225236	NM_006073.4(TRDN):c.1601T>C (p.Ile534Thr)	TRDN (I534T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225235	NM_006073.4(TRDN):c.1519G>A (p.Val507Ile)	TRDN (V507I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3225234	NM_006073.4(TRDN):c.14C>T (p.Thr5Ile)	TRDN (T5I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225233	NM_006073.4(TRDN):c.1425T>C (p.Pro475=)	TRDN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225232	NM_006073.4(TRDN):c.1190A>G (p.Gln397Arg)	TRDN (Q378R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225231	NM_006073.4(TRDN):c.1186A>G (p.Lys396Glu)	TRDN (K377E +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225230	NM_006073.4(TRDN):c.111A>G (p.Thr37=)	TRDN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225229	NM_006073.4(TRDN):c.1086T>A (p.Thr362=)	TRDN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225228	NM_006073.4(TRDN):c.1054C>T (p.Pro352Ser)	TRDN (P333S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3182076	NM_006073.4(TRDN):c.993A>C (p.Glu331Asp)	TRDN (E331D +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3182074	NM_006073.4(TRDN):c.503A>G (p.Glu168Gly)	TRDN (E168G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3182073	NM_006073.4(TRDN):c.1931A>C (p.Gln644Pro)	TRDN (Q644P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3182072	NM_006073.4(TRDN):c.1489G>A (p.Asp497Asn)	TRDN (D497N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3076194	NM_006073.4(TRDN):c.1668A>G (p.Lys556=)	TRDN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GUncertain significance
Select item 3075857	NM_006073.4(TRDN):c.1063del (p.Ala355fs)	TRDN (A336fs +2 more)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia	GLikely pathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 3057440	NM_006073.4(TRDN):c.793+29A>T	TRDN	Single nucleotide variant (synonymous variant +1 more)	TRDN-related disorder	GLikely benign
Select item 3052551	NM_006073.4(TRDN):c.484+1229T>C	TRDN	Single nucleotide variant (synonymous variant +1 more)	TRDN-related disorder	GLikely benign
Select item 3036990	NM_006073.4(TRDN):c.1952-8C>G	TRDN	Single nucleotide variant (intron variant)	TRDN-related disorder	GLikely benign
Select item 3036578	NM_006073.4(TRDN):c.1805-6del	TRDN	Deletion (intron variant)	TRDN-related disorder	GLikely benign
Select item 3022753	NM_006073.4(TRDN):c.87A>T (p.Gly29=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3018332	NM_006073.4(TRDN):c.2051-13C>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3015278	NM_006073.4(TRDN):c.1739-17T>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3013567	NM_006073.4(TRDN):c.1739-15G>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 3009443	NM_006073.4(TRDN):c.1560G>A (p.Glu520=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2998248	NM_006073.4(TRDN):c.1420+17A>G	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2997927	NM_006073.4(TRDN):c.1717dup (p.Thr573fs)	TRDN (T573fs)	Duplication (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2988062	NM_006073.4(TRDN):c.391+13T>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2984787	NM_006073.4(TRDN):c.485-13T>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2980846	NM_006073.4(TRDN):c.507dup (p.Gly170fs)	TRDN (G170fs)	Duplication (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 2980718	NM_006073.4(TRDN):c.854-13C>G	TRDN, TRDN-AS1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2980385	NM_006073.4(TRDN):c.432C>T (p.His144=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2976138	NM_006073.4(TRDN):c.424+14A>G	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2975535	NM_006073.4(TRDN):c.1831+9T>G	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2972687	NM_006073.4(TRDN):c.1370-19C>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2969834	NM_006073.4(TRDN):c.1511-9T>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2960275	NM_006073.4(TRDN):c.1503C>T (p.Ser501=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2920531	NC_000006.12:g.123503896TCTGT[1]	TRDN	Microsatellite (genic downstream transcript variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 2917315	NM_006073.4(TRDN):c.1907-16T>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2914853	NM_006073.4(TRDN):c.1051+18T>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2914334	NM_006073.4(TRDN):c.1052-10dup	TRDN	Duplication (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GBenign
Select item 2914044	NM_006073.4(TRDN):c.1106-20C>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2913767	NM_006073.4(TRDN):c.1975+7A>G	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2912995	NM_006073.4(TRDN):c.138C>T (p.Ser46=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2911897	NM_006073.4(TRDN):c.1052-18T>A	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2910898	NM_006073.4(TRDN):c.1421-16C>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2909704	NM_006073.4(TRDN):c.1471+1G>A	TRDN	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +1 more	GLikely pathogenic
Select item 2905885	NM_006073.4(TRDN):c.1568-18G>A	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2904628	NM_006073.4(TRDN):c.2051-5C>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2901246	NM_006073.4(TRDN):c.854-10C>A	TRDN, TRDN-AS1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2897731	NM_006073.4(TRDN):c.1471+8_1471+10del	TRDN	Microsatellite (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2897621	NM_006073.4(TRDN):c.1804+8T>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2895998	NM_006073.4(TRDN):c.854-4G>A	TRDN, TRDN-AS1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2892407	NM_006073.4(TRDN):c.1871-20T>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2891489	NM_006073.4(TRDN):c.542A>T (p.Glu181Val)	TRDN (E181V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2879952	NM_006073.4(TRDN):c.1370-2A>G	TRDN	Single nucleotide variant (splice acceptor variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely pathogenic
Select item 2879198	NM_006073.4(TRDN):c.2090A>G (p.Tyr697Cys)	TRDN (Y697C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2879133	NM_006073.4(TRDN):c.1421-14A>G	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2876847	NM_006073.4(TRDN):c.1106-5T>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2875053	NM_006073.4(TRDN):c.1887G>A (p.Lys629=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2867858	NM_006073.4(TRDN):c.2051-12T>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2866830	NM_006073.4(TRDN):c.2121T>A (p.Thr707=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2864214	NM_006073.4(TRDN):c.1568-17C>A	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2862250	NM_006073.4(TRDN):c.1321+10G>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2861871	NM_006073.4(TRDN):c.1907-3C>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2860674	NM_006073.4(TRDN):c.1938C>T (p.His646=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2860514	NM_006073.4(TRDN):c.1673-10C>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2853506	NM_006073.4(TRDN):c.1420+18A>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2852050	NM_006073.4(TRDN):c.1568-20del	TRDN	Deletion (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2850082	NM_006073.4(TRDN):c.630T>C (p.Thr210=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2849385	NM_006073.4(TRDN):c.485-20A>G	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2840949	NM_006073.4(TRDN):c.1632C>T (p.Asp544=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2831794	NM_006073.4(TRDN):c.1624+20T>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2831617	NM_006073.4(TRDN):c.1739-16T>G	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2830746	NM_006073.4(TRDN):c.794-8T>A	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign

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