"Blueprint Genetics"[submitter] AND "TTN-AS1"[gene] - ClinVar

Search results

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12652	NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)	TTN, TTN-AS1	Indel (missense variant)	Dilated cardiomyopathy 1G +6 more	GPathogenic
Select item 222864	NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter)	LOC129935183, TTN +1 more (L35312* +5 more)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 180582	NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)	LOC129935184, TTN +1 more (S35172del +5 more)	Deletion (inframe_deletion)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 636375	NM_001267550.2(TTN):c.105186dup (p.Ala35063fs)	TTN, TTN-AS1 (A25998fs +5 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 178153	NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala)	TTN, TTN-AS1 (E32357A +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 47674	NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)	TTN-AS1, TTN (V34854L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 222863	NM_001267550.2(TTN):c.104010C>A (p.Tyr34670Ter)	TTN, TTN-AS1 (Y34670* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 180581	NM_001267550.2(TTN):c.103599_103602del (p.Arg34534fs)	TTN-AS1, TTN (R34534fs +5 more)	Microsatellite (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 374145	NM_001267550.2(TTN):c.103360del (p.Glu34454fs)	TTN, TTN-AS1 (E25514fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype +12 more	GConflicting classifications of pathogenicity
Select item 636721	NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter)	TTN, TTN-AS1 (Y33981* +5 more)	Single nucleotide variant (nonsense)	not provided +2 more	GLikely pathogenic
Select item 636353	NM_001267550.2(TTN):c.100411_100412del (p.Asn33471fs)	TTN, TTN-AS1 (N33471fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 636987	NM_001267550.2(TTN):c.97555_97558dup (p.Trp32520fs)	TTN, TTN-AS1 (W23455fs +5 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype +1 more	GLikely 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 180580	NM_001267550.2(TTN):c.95966del (p.Asn31989fs)	TTN, TTN-AS1 (N23049fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 137813	NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu)	TTN, TTN-AS1 (F31805L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +10 more	GUncertain significance
Select item 636672	NM_001267550.2(TTN):c.94667G>A (p.Trp31556Ter)	TTN, TTN-AS1 (W31556* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 222875	NM_001267550.2(TTN):c.94249del (p.Val31417fs)	TTN-AS1, TTN (V22477fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 179857	NM_001267550.2(TTN):c.93674T>C (p.Ile31225Thr)	TTN-AS1, TTN (I28657T +5 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 223353	NM_001267550.2(TTN):c.91715dup (p.Asn30572fs)	TTN, TTN-AS1 (N28004fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GConflicting classifications of pathogenicity
Select item 636376	NM_001267550.2(TTN):c.90562_90566del (p.Thr30188fs)	TTN, TTN-AS1 (T21315fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 636974	NM_001267550.2(TTN):c.90544A>T (p.Lys30182Ter)	TTN, TTN-AS1 (K30182* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 223324	NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs)	TTN-AS1, TTN (N20902fs +5 more)	Microsatellite (frameshift variant)	Primary dilated cardiomyopathy +8 more	GPathogenic/Likely pathogenic
Select item 636868	NM_001267550.2(TTN):c.89553del (p.Ala29853fs)	TTN, TTN-AS1 (A20788fs +5 more)	Deletion (frameshift variant)	not provided +2 more	GLikely pathogenic
Select item 636742	NM_001267550.2(TTN):c.88848_88864del (p.Ile29616_Gly29617insTer)	TTN, TTN-AS1	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 222862	NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter)	TTN-AS1, TTN (W29474* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 222874	NM_001267550.2(TTN):c.87849del (p.Leu29283fs)	TTN, TTN-AS1 (L20218fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 180576	NM_001267550.2(TTN):c.87316G>T (p.Glu29106Ter)	TTN-AS1, TTN (E29106* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 420065	NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter)	TTN, TTN-AS1 (R27373* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +3 more	GPathogenic
Select item 636930	NM_001267550.2(TTN):c.86642del (p.His28881fs)	TTN, TTN-AS1 (H27240fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 636904	NM_001267550.2(TTN):c.86277A>G (p.Glu28759=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 636725	NM_001267550.2(TTN):c.85713G>A (p.Trp28571Ter)	TTN, TTN-AS1 (W28571* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 636561	NM_001267550.2(TTN):c.85640_85652del (p.Pro28547fs)	TTN, TTN-AS1 (P26906fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +3 more	GLikely pathogenic
Select item 223295	NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)	TTN, TTN-AS1 (R28364* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +8 more	GPathogenic/Likely pathogenic
Select item 222879	NM_001267550.2(TTN):c.83789_83790del (p.Glu27930fs)	TTN-AS1, TTN (E25362fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 636719	NM_001267550.2(TTN):c.80679del (p.Gly26894fs)	TTN, TTN-AS1 (G17954fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 222861	NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter)	TTN, TTN-AS1 (R26562* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 404828	NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter)	TTN-AS1, TTN (R25552* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GPathogenic/Likely pathogenic
Select item 222873	NM_001267550.2(TTN):c.76373del (p.Pro25458fs)	TTN, TTN-AS1 (P16518fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 222878	NM_001267550.2(TTN):c.75314dup (p.Val25106fs)	TTN-AS1, TTN (V16166fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 202406	NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter)	TTN-AS1, TTN (R23443* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 636600	NM_001267550.2(TTN):c.72227T>A (p.Leu24076Ter)	TTN, TTN-AS1 (L24076* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 47301	NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)	TTN, TTN-AS1 (R23868* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +10 more	GPathogenic/Likely pathogenic
Select item 180575	NM_001267550.2(TTN):c.71500C>T (p.Gln23834Ter)	TTN, TTN-AS1 (Q23834* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 180574	NM_001267550.2(TTN):c.69783G>A (p.Trp23261Ter)	LOC126806422, TTN +1 more (W23261* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 222877	NM_001267550.2(TTN):c.69639dup (p.Val23214fs)	LOC126806422, TTN +1 more (V20646fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 222860	NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter)	TTN, TTN-AS1 (E22813* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +2 more	GLikely pathogenic
Select item 222869	NM_001267550.2(TTN):c.67637-2A>G	LOC126806423, TTN +1 more	Single nucleotide variant (splice acceptor variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 180573	NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)	LOC126806423, TTN +1 more (R22499* +5 more)	Single nucleotide variant (nonsense)	Centronuclear myopathy +9 more	GPathogenic/Likely pathogenic
Select item 155848	NM_001267550.2(TTN):c.66975_66978del (p.Lys22326fs)	TTN, TTN-AS1 (K13453fs +5 more)	Deletion (frameshift variant)	Left ventricular noncompaction cardiomyopathy	GLikely pathogenic
Select item 222868	NM_001267550.2(TTN):c.65576-2A>G	TTN-AS1, TTN	Single nucleotide variant (splice acceptor variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 466649	NM_001267550.2(TTN):c.64915C>T (p.Arg21639Ter)	TTN, TTN-AS1 (R21639* +5 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 636855	NM_001267550.2(TTN):c.64098del (p.Glu21366fs)	TTN, TTN-AS1 (E18798fs +5 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 155847	NM_001267550.2(TTN):c.64072G>A (p.Val21358Met)	TTN-AS1, TTN (V12418M +5 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 47197	NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)	TTN, TTN-AS1 (I21197V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 228301	NM_001267550.2(TTN):c.62909dup (p.Glu20971fs)	TTN, TTN-AS1 (E12098fs +5 more)	Duplication (frameshift variant)	Cardiovascular phenotype +5 more	GLikely pathogenic
Select item 636377	NM_001267550.2(TTN):c.61339del (p.Arg20446_Ile20447insTer)	TTN, TTN-AS1	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 419310	NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs)	TTN-AS1, TTN (P10794fs +5 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 222859	NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter)	TTN, TTN-AS1 (W19420* +5 more)	Single nucleotide variant (nonsense)	Left ventricular noncompaction cardiomyopathy +2 more	GLikely pathogenic
Select item 155850	NM_001267550.2(TTN):c.57847+5_57847+8del	TTN, TTN-AS1	Microsatellite (splice donor variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 180572	NM_001267550.2(TTN):c.57770G>A (p.Arg19257Gln)	TTN-AS1, TTN (R10317Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GBenign/Likely benign
Select item 202392	NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter)	TTN-AS1, TTN (R17616* +5 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 155846	NM_001267550.2(TTN):c.57367A>G (p.Thr19123Ala)	TTN, TTN-AS1 (T10183A +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 47121	NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter)	TTN, TTN-AS1 (R19111* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 212473	NM_001267550.2(TTN):c.56963-3C>T	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 222872	NM_001267550.2(TTN):c.54990dup (p.Thr18331fs)	TTN, TTN-AS1 (T18331fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 180570	NM_001267550.2(TTN):c.53519A>G (p.Lys17840Arg)	TTN-AS1, TTN (K17840R +5 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 636639	NM_001267550.2(TTN):c.53432G>A (p.Trp17811Ter)	TTN, TTN-AS1 (W17811* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 636775	NM_001267550.2(TTN):c.52242del (p.Asp17415fs)	TTN, TTN-AS1 (D8350fs +4 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 155849	NM_001267550.2(TTN):c.50858-3C>T	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GConflicting classifications of pathogenicity
Select item 180579	NM_001267550.2(TTN):c.49813del (p.Val16605fs)	TTN, TTN-AS1 (V14964fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 179411	NM_001267550.2(TTN):c.49648+2del	TTN, TTN-AS1	Deletion (splice donor variant)	not provided +10 more	GPathogenic
Select item 636978	NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter)	LOC126806426, TTN +1 more (R16391* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GLikely pathogenic
Select item 636404	NM_001267550.2(TTN):c.49004dup (p.Asn16335fs)	LOC126806426, TTN +1 more (N7462fs +5 more)	Duplication (non-coding transcript variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 202447	NM_001267550.2(TTN):c.48863del (p.Pro16288fs)	LOC126806426, TTN +1 more (P7348fs +5 more)	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 202371	NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter)	TTN, TTN-AS1 (R14454* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic

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Items: 75