TRDN-AS1[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 58443	GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1	CLVS2, FABP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 148091	GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1	CLVS2, FABP7 +75 more	Copy number loss	See cases	GUncertain significance
Select item 155386	GRCh38/hg38 6q22.31(chr6:123188343-124008918)x3	LOC129389631, LOC129389632 +8 more	Copy number gain	See cases	GUncertain significance
Select item 155424	GRCh38/hg38 6q22.31(chr6:123197871-124008917)x3	LOC129389631, LOC129389632 +8 more	Copy number gain	See cases	GUncertain significance
Select item 150767	GRCh38/hg38 6q22.31(chr6:123206369-123959291)x3	LOC129389631, LOC129389632 +8 more	Copy number gain	See cases	GLikely benign
Select item 148694	GRCh38/hg38 6q22.31(chr6:123206400-123981401)x3	LOC129389631, LOC129389632 +8 more	Copy number gain	See cases	GLikely benign
Select item 33225	GRCh38/hg38 6q22.31(chr6:123206400-123959297)x3	LOC129389631, LOC129389632 +8 more	Copy number gain	See cases	GUncertain significance
Select item 532435	NC_000006.11:g.(?_123539726)_(123957940_?)dup	LOC129389633, TRDN-AS1 +3 more	Duplication	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 532432	NC_000006.11:g.(?_123539726)_(123825066_?)dup	TRDN, TRDN-AS1 +1 more	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 147877	GRCh38/hg38 6q22.31(chr6:123352392-123845516)x3	LOC129997096, LOC129997097 +8 more	Copy number gain	See cases	GUncertain significance
Select item 654094	NC_000006.12:g.(?_123438043)_(123465003_?)del	TRDN-AS1, TRDN	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
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 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 227103	NM_006073.4(TRDN):c.931+18del	TRDN, TRDN-AS1 (S297fs)	Deletion (frameshift variant +1 more)	not provided +3 more	GBenign/Likely benign
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 1573045	NM_006073.4(TRDN):c.931+10T>A	TRDN, TRDN-AS1 (F294Y)	Single nucleotide variant (missense variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	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 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 2086285	NM_006073.4(TRDN):c.925C>T (p.Leu309Phe)	TRDN, TRDN-AS1 (L289F +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
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 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 2447976	NM_006073.4(TRDN):c.912G>A (p.Pro304=)	TRDN, TRDN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 519373	NM_006073.4(TRDN):c.902G>A (p.Arg301Lys)	TRDN, TRDN-AS1 (R301K +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
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 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 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 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 1116088	NM_006073.4(TRDN):c.885G>A (p.Pro295=)	TRDN, TRDN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 423500	NM_006073.4(TRDN):c.884C>T (p.Pro295Leu)	TRDN, TRDN-AS1 (P295L +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +3 more	GConflicting classifications of pathogenicity
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 2030468	NM_006073.4(TRDN):c.876T>A (p.Pro292=)	TRDN, TRDN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 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 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 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 415180	NM_006073.4(TRDN):c.861C>T (p.Ser287=)	TRDN, TRDN-AS1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	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 1763794	NM_006073.4(TRDN):c.854-2A>T	TRDN-AS1, TRDN	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
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 1571569	NM_006073.4(TRDN):c.854-7T>C	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 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 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 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 1183047	NM_006073.4(TRDN):c.854-188T>C	TRDN-AS1, TRDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678624	NM_006073.4(TRDN):c.854-237A>G	TRDN, TRDN-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680814	NM_006073.4(TRDN):c.854-325C>T	TRDN, TRDN-AS1	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 57