Related gene-specific medical variations for Gene (Select 10345) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2737575	NM_006073.4(TRDN):c.901A>C (p.Arg301=)	TRDN, TRDN-AS1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2562977	NM_006073.4(TRDN):c.854G>A (p.Gly285Glu)	TRDN, TRDN-AS1 (G285E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447976	NM_006073.4(TRDN):c.912G>A (p.Pro304=)	TRDN, TRDN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2434224	NM_006073.4(TRDN):c.1558G>T (p.Glu520Ter)	TRDN (E520*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 5	GLikely pathogenic
Select item 2434223	NM_006073.4(TRDN):c.424+1G>T	TRDN	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 5	GLikely pathogenic
Select item 2123754	NM_006073.4(TRDN):c.856_890del (p.Gln286fs)	TRDN, TRDN-AS1 (Q286fs +1 more)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2086285	NM_006073.4(TRDN):c.925C>T (p.Leu309Phe)	TRDN-AS1, TRDN (L289F +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2030468	NM_006073.4(TRDN):c.876T>A (p.Pro292=)	TRDN-AS1, TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 1976312	NM_006073.4(TRDN):c.865G>A (p.Ala289Thr)	TRDN, TRDN-AS1 (A269T +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 1948058	NM_006073.4(TRDN):c.920C>T (p.Pro307Leu)	TRDN, TRDN-AS1 (P307L +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 1764778	NM_006073.4(TRDN):c.881T>A (p.Leu294Ter)	TRDN, TRDN-AS1 (L274* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 1764636	NM_006073.4(TRDN):c.877C>T (p.Pro293Ser)	TRDN, TRDN-AS1 (P273S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1764526	NM_006073.4(TRDN):c.874C>T (p.Pro292Ser)	TRDN, TRDN-AS1 (P272S +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 1763794	NM_006073.4(TRDN):c.854-2A>T	TRDN, TRDN-AS1	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 1626291	NM_006073.4(TRDN):c.931+14T>C	TRDN, TRDN-AS1	Single nucleotide variant (synonymous variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1602591	NM_006073.4(TRDN):c.931+9T>C	TRDN, TRDN-AS1 (F294L)	Single nucleotide variant (missense variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1599217	NM_006073.4(TRDN):c.931+18dup	TRDN, TRDN-AS1 (S297fs)	Duplication (frameshift variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 1	GBenign
Select item 1573045	NM_006073.4(TRDN):c.931+10T>A	TRDN, TRDN-AS1 (F294Y)	Single nucleotide variant (missense variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 5 +1 more	GLikely benign
Select item 1571569	NM_006073.4(TRDN):c.854-7T>C	TRDN, TRDN-AS1	Single nucleotide variant (intron variant)	TRDN-related condition +1 more	GLikely benign
Select item 1565006	NM_006073.4(TRDN):c.854-17A>G	TRDN, TRDN-AS1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1561528	NM_006073.4(TRDN):c.931+19C>T	TRDN, TRDN-AS1 (S297F)	Single nucleotide variant (missense variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1527285	GRCh37/hg19 6q22.31(chr6:123867333-124002494)	TRDN	Copy number loss	not specified	GUncertain significance
Select item 1410469	NM_006073.4(TRDN):c.899C>G (p.Ser300Cys)	TRDN, TRDN-AS1 (S300C +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 1325231	NM_006073.4(TRDN):c.1050del (p.Glu351fs)	TRDN (E351fs +1 more)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 5	GLikely pathogenic
Select item 1183047	NM_006073.4(TRDN):c.854-188T>C	TRDN-AS1, TRDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1116088	NM_006073.4(TRDN):c.885G>A (p.Pro295=)	TRDN, TRDN-AS1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1113013	NM_006073.4(TRDN):c.894A>G (p.Gln298=)	TRDN, TRDN-AS1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1035212	NM_006073.4(TRDN):c.923C>T (p.Ala308Val)	TRDN, TRDN-AS1 (A288V +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 942646	NM_006073.4(TRDN):c.931+6T>C	TRDN, TRDN-AS1 (Y293H)	Single nucleotide variant (missense variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 870272	NM_006073.4(TRDN):c.425-4_425-3insLINE1	TRDN	Insertion	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 840584	NM_006073.4(TRDN):c.872C>T (p.Pro291Leu)	TRDN, TRDN-AS1 (P271L +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 688308	GRCh37/hg19 6q22.31(chr6:123424461-123826573)x3	TRDN	Copy number gain	not provided	GUncertain significance
Select item 685818	GRCh37/hg19 6q22.31(chr6:123551934-123597121)x1	TRDN	Copy number loss	not provided	GPathogenic
Select item 685063	GRCh37/hg19 6q22.31(chr6:123815422-123951153)x1	TRDN	Copy number loss	not provided	GPathogenic
Select item 680814	NM_006073.4(TRDN):c.854-325C>T	TRDN, TRDN-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678624	NM_006073.4(TRDN):c.854-237A>G	TRDN, TRDN-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676362	NM_006073.4(TRDN):c.854-84A>G	TRDN, TRDN-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674794	NM_006073.4(TRDN):c.854-134del	TRDN, TRDN-AS1	Deletion (intron variant)	not provided	GBenign
Select item 665590	NM_006073.4(TRDN):c.863C>T (p.Pro288Leu)	TRDN, TRDN-AS1 (P268L +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 563230	GRCh37/hg19 6q22.31(chr6:123786927-124034213)x1	TRDN	Copy number loss	not provided	GUncertain significance
Select item 519373	NM_006073.4(TRDN):c.902G>A (p.Arg301Lys)	TRDN-AS1, TRDN (R301K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 423500	NM_006073.4(TRDN):c.884C>T (p.Pro295Leu)	TRDN, TRDN-AS1 (P295L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 415180	NM_006073.4(TRDN):c.861C>T (p.Ser287=)	TRDN-AS1, TRDN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 264327	NM_006073.4(TRDN):c.911C>T (p.Pro304Leu)	TRDN, TRDN-AS1 (P304L +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GConflicting classifications of pathogenicity
Select item 227103	NM_006073.4(TRDN):c.931+18del	TRDN, TRDN-AS1 (S297fs)	Deletion (frameshift variant +1 more)	not specified +3 more	GBenign/Likely benign

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Links from Gene

Items: 48