"Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 47709	NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)	TTN, TTN-AS1 (E35527V +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 165639	NM_001267550.2(TTN):c.104950del (p.Glu34984fs)	TTN, TTN-AS1 (E25919fs +5 more)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 684869	NM_001267550.2(TTN):c.103857G>A (p.Trp34619Ter)	TTN, TTN-AS1 (W25554* +5 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 464497	NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)	TTN, TTN-AS1 (R34175* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 180058	NM_001267550.2(TTN):c.97492+1G>C	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 467692	NM_001267550.2(TTN):c.96904G>A (p.Val32302Met)	LOC126806421, TTN +1 more (V32302M +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +2 more	GUncertain significance
Select item 978336	NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter)	TTN, TTN-AS1 (E22366* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +3 more	GPathogenic/Likely pathogenic
Select item 223326	NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)	TTN, TTN-AS1 (R31056* +5 more)	Single nucleotide variant (nonsense)	Early-onset myopathy with fatal cardiomyopathy +9 more	GPathogenic/Likely pathogenic
Select item 511503	NM_001267550.2(TTN):c.92151T>C (p.Tyr30717=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 179692	NM_001267550.2(TTN):c.91839dup (p.Val30614fs)	TTN, TTN-AS1 (V21549fs +5 more)	Duplication (frameshift variant)	Primary familial dilated cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 196152	NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del)	TTN, TTN-AS1 (G30255del +5 more)	Microsatellite (inframe_deletion)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 520476	NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter)	TTN, TTN-AS1 (E30236* +5 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 645724	NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter)	TTN, TTN-AS1 (R20544* +5 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 179417	NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)	TTN, TTN-AS1	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +5 more	GPathogenic/Likely pathogenic
Select item 519013	NM_001267550.2(TTN):c.86076dup (p.Ser28693fs)	TTN, TTN-AS1 (S26125fs +5 more)	Duplication (frameshift variant)	Cardiovascular phenotype +4 more	GPathogenic
Select item 684873	NM_001267550.2(TTN):c.85295del (p.Leu28432fs)	TTN, TTN-AS1 (L19367fs +5 more)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 488810	NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)	TTN, TTN-AS1 (G25912* +5 more)	Single nucleotide variant (nonsense)	Tibial muscular dystrophy +9 more	GPathogenic/Likely pathogenic
Select item 684876	NM_001267550.2(TTN):c.81724G>T (p.Glu27242Ter)	TTN, TTN-AS1 (E18177* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 265437	NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter)	TTN, TTN-AS1 (R25372* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1A +5 more	GPathogenic/Likely pathogenic
Select item 520488	NM_001267550.2(TTN):c.80692_80697del (p.Lys26898_Ile26899del)	TTN, TTN-AS1	Deletion (inframe_deletion)	not specified +1 more	GUncertain significance
Select item 520484	NM_001267550.2(TTN):c.78947dup (p.Ser26317fs)	TTN-AS1, TTN (S23749fs +5 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 684788	NM_001267550.2(TTN):c.78117G>A (p.Lys26039=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +3 more	GLikely benign
Select item 520486	NM_001267550.2(TTN):c.76904dup (p.Asn25635fs)	TTN, TTN-AS1 (N25635fs +5 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 238846	NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter)	TTN, TTN-AS1 (R25573* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1A +4 more	GPathogenic/Likely pathogenic
Select item 238845	NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs)	TTN, TTN-AS1 (S22826fs +5 more)	Insertion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GPathogenic
Select item 202466	NM_001267550.2(TTN):c.72848_72849del (p.Lys24283fs)	TTN, TTN-AS1 (K15343fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1A +1 more	GPathogenic
Select item 520485	NM_001267550.2(TTN):c.72826del (p.Thr24276fs)	TTN, TTN-AS1 (T15336fs +5 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 684838	NM_001267550.2(TTN):c.72663del (p.Pro24223fs)	TTN, TTN-AS1 (P15158fs +5 more)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 520480	NM_001267550.2(TTN):c.72347del (p.Asn24116fs)	TTN, TTN-AS1 (N15243fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 47301	NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)	TTN, TTN-AS1 (R23868* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +10 more	GPathogenic/Likely pathogenic
Select item 978284	NM_001267550.2(TTN):c.71437_71440dup (p.Thr23814fs)	TTN, TTN-AS1 (T14749fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1A	GPathogenic
Select item 520487	NM_001267550.2(TTN):c.69880del (p.Thr23294fs)	LOC126806422, TTN +1 more (T14354fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 520475	NM_001267550.2(TTN):c.68923_68924insT (p.Pro22975fs)	TTN, TTN-AS1 (P13910fs +5 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 978334	NM_001267550.2(TTN):c.68823C>A (p.Tyr22941Ter)	TTN, TTN-AS1 (Y13876* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1A	GPathogenic
Select item 165869	NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter)	TTN, TTN-AS1 (R20249* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 520477	NM_001267550.2(TTN):c.66770-2A>C	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 978335	NM_001267550.2(TTN):c.65890A>T (p.Lys21964Ter)	TTN, TTN-AS1 (K12899* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1A	GPathogenic
Select item 684807	NM_001267550.2(TTN):c.65655del (p.Thr21886fs)	TTN, TTN-AS1 (T12821fs +5 more)	Deletion (non-coding transcript variant +1 more)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 684794	NM_001267550.2(TTN):c.65142C>G (p.Val21714=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 47175	NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)	TTN, TTN-AS1 (R20626* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +11 more	GPathogenic/Likely pathogenic
Select item 978283	NM_001267550.2(TTN):c.61447_61449del (p.Arg20483del)	TTN, TTN-AS1 (R11418del +5 more)	Deletion (inframe_deletion)	Conduction disorder of the heart	GUncertain significance
Select item 978285	NM_001267550.2(TTN):c.56831T>A (p.Leu18944Ter)	TTN, TTN-AS1 (L10004* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 978287	NM_001267550.2(TTN):c.55639C>T (p.Gln18547Ter)	TTN, TTN-AS1 (Q15979* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +2 more	GPathogenic/Likely pathogenic
Select item 520482	NM_001267550.2(TTN):c.53984del (p.Met17995fs)	TTN, TTN-AS1 (M16354fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 165985	NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter)	TTN, TTN-AS1 (E15317* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +6 more	GPathogenic/Likely pathogenic
Select item 429894	NM_001267550.2(TTN):c.51654C>G (p.Tyr17218Ter)	TTN, TTN-AS1 (Y15577* +5 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy +1 more	GPathogenic
Select item 520481	NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter)	TTN, TTN-AS1 (W17194* +5 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GPathogenic
Select item 535032	NM_001267550.2(TTN):c.51525del (p.Ser17177fs)	TTN, TTN-AS1 (S15536fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +2 more	GPathogenic/Likely pathogenic
Select item 202371	NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter)	TTN, TTN-AS1 (R14454* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GPathogenic
Select item 504181	NM_001267550.2(TTN):c.45989dup (p.Thr15331fs)	TTN (T12763fs +5 more)	Duplication (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 978286	NM_001267550.2(TTN):c.45107del (p.Asn15036fs)	LOC126806427, TTN (N12468fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 180053	NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del)	TTN (E12260del +5 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +9 more	GUncertain significance
Select item 202367	NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)	TTN (R13117* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GConflicting classifications of pathogenicity
Select item 242422	NM_001267550.2(TTN):c.42315_42318del (p.Lys14105fs)	TTN (K5040fs +5 more)	Microsatellite (frameshift variant)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 178219	NM_001267550.2(TTN):c.41958A>G (p.Ala13986=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 520478	NM_001267550.2(TTN):c.40621A>T (p.Lys13541Ter)	TTN (K13541* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 167789	NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del)	TTN (E13529del +5 more)	Microsatellite (inframe_deletion)	not specified +11 more	GConflicting classifications of pathogenicity
Select item 46932	NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1])	TTN	Microsatellite (inframe_deletion +1 more)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 404922	NM_001267550.2(TTN):c.34612+1G>A	TTN	Single nucleotide variant (intron variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 130665	NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3])	TTN	Microsatellite (inframe_deletion +1 more)	Arrhythmogenic right ventricular dysplasia 1 +6 more	GConflicting classifications of pathogenicity
Select item 46884	NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 194298	NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1])	TTN	Deletion (inframe_deletion +1 more)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity
Select item 520479	NM_001267550.2(TTN):c.30683-2del	TTN	Deletion (splice acceptor variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 453163	NM_001267550.2(TTN):c.22745_22746del (p.Ser7582fs)	TTN (S6338fs +2 more)	Microsatellite (frameshift variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 684858	NM_001267550.2(TTN):c.12523_12524del (p.Gln4175fs)	TTN (Q3812fs +4 more)	Microsatellite (frameshift variant +1 more)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 684797	NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter)	TTN (Q3727* +4 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 47784	NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6])	TTN	Duplication (inframe_insertion +1 more)	not provided +7 more	GBenign/Likely benign
Select item 47776	NM_133379.5(TTN):c.14754T>G (p.Pro4918=)	LOC126806432, TTN	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 166315	NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GConflicting classifications of pathogenicity
Select item 978288	NM_001267550.2(TTN):c.2445C>T (p.His815=)	TTN	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 229496	NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del)	TTN (E198del)	Microsatellite (inframe_deletion)	not provided +4 more	GConflicting classifications of pathogenicity

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Items: 71