"Practice for Gait Abnormalities, David Pomarino, Competency Network T - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342136	NM_001267550.2(TTN):c.107033dup (p.Ser35679fs)	TTN, TTN-AS1 (S26614fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 617573	NM_001267550.2(TTN):c.106531+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GPathogenic/Likely pathogenic
Select item 229572	NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His)	TTN-AS1, TTN (Y32922H +5 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 178854	NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu)	LOC129935184, TTN +1 more (I32620L +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 191812	NM_001267550.2(TTN):c.105128G>A (p.Arg35043His)	TTN, TTN-AS1 (R32475H +5 more)	Single nucleotide variant (missense variant)	Tip-toe gait +5 more	GConflicting classifications of pathogenicity
Select item 1344499	NM_001267550.2(TTN):c.104800C>T (p.Gln34934Ter)	TTN, TTN-AS1 (Q25869* +5 more)	Single nucleotide variant (nonsense)	Tip-toe gait	GLikely pathogenic
Select item 1481795	NM_001267550.2(TTN):c.104434A>G (p.Ile34812Val)	TTN, TTN-AS1 (I34812V +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 130690	NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)	TTN, TTN-AS1 (E34383Q +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 47639	NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)	TTN, TTN-AS1 (V33889I +5 more)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 196643	NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile)	TTN, TTN-AS1 (V32906I +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GConflicting classifications of pathogenicity
Select item 47598	NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)	TTN, TTN-AS1 (A32765G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 1188844	NM_001267550.2(TTN):c.97399G>A (p.Gly32467Arg)	TTN, TTN-AS1 (G23402R +5 more)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 47520	NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)	TTN, TTN-AS1 (P30726S +5 more)	Single nucleotide variant (missense variant)	Supraventricular tachycardia +14 more	GConflicting classifications of pathogenicity
Select item 47464	NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)	TTN, TTN-AS1 (P29138T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 283450	NM_001267550.2(TTN):c.86949A>G (p.Glu28983=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GConflicting classifications of pathogenicity
Select item 202914	NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr)	TTN, TTN-AS1 (S25944Y +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1679098	NM_001267550.2(TTN):c.78215G>A (p.Gly26072Asp)	TTN, TTN-AS1 (G17007D +5 more)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 192153	NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly)	TTN, TTN-AS1 (A23171G +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 518953	NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter)	TTN, TTN-AS1 (W16260* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 47322	NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)	TTN-AS1, TTN (E24609Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 196065	NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp)	TTN-AS1, TTN (N24256D +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 191903	NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)	TTN, TTN-AS1 (L21481P +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +9 more	GConflicting classifications of pathogenicity
Select item 47308	NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +10 more	GConflicting classifications of pathogenicity
Select item 47265	NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)	TTN, TTN-AS1 (P23044S +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +13 more	GConflicting classifications of pathogenicity
Select item 281404	NM_001267550.2(TTN):c.68824+5G>C	TTN, TTN-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1679217	NM_001267550.2(TTN):c.68786C>T (p.Ser22929Leu)	TTN, TTN-AS1 (S13864L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 47248	NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)	TTN, TTN-AS1 (S22367P +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 196005	NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn)	TTN, TTN-AS1 (D22201N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1016946	NM_001267550.2(TTN):c.66463+2dup	TTN, TTN-AS1	Duplication (splice donor variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 178202	NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)	TTN, TTN-AS1 (A18579T +5 more)	Single nucleotide variant (missense variant)	TTN-related disorder +11 more	GConflicting classifications of pathogenicity
Select item 47177	NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)	TTN, TTN-AS1 (R20641Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 47163	NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)	TTN, TTN-AS1 (E20241Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 1188843	NM_001267550.2(TTN):c.60542T>C (p.Ile20181Thr)	TTN, TTN-AS1 (I11116T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 178853	NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly)	TTN, TTN-AS1 (V17537G +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1284582	NM_001267550.2(TTN):c.54339del (p.Glu18113fs)	TTN, TTN-AS1 (E15545fs +5 more)	Deletion (non-coding transcript variant +1 more)	Tip-toe gait +1 more	GLikely pathogenic
Select item 47070	NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)	LOC126806425, TTN +1 more (R17699H +5 more)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 166005	NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)	TTN, TTN-AS1 (R14337H +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 281972	NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)	TTN, TTN-AS1 (R14983Q +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 47024	NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)	TTN-AS1, LOC126806426 +1 more (P16243S +5 more)	Single nucleotide variant (missense variant)	Tip-toe gait +11 more	GConflicting classifications of pathogenicity
Select item 1675330	NM_001267550.2(TTN):c.46757dup (p.Met15587fs)	TTN, TTN-AS1 (M13019fs +5 more)	Duplication (frameshift variant)	Tip-toe gait	GLikely pathogenic
Select item 46955	NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)	TTN (V14110A +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 1679195	NM_001267550.2(TTN):c.41467C>G (p.Pro13823Ala)	TTN (P11255A +5 more)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 202600	NM_001267550.2(TTN):c.39115A>C (p.Thr13039Pro)	TTN (T11532P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 2574631	NM_001267550.2(TTN):c.39043+2T>G	TTN	Single nucleotide variant (intron variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 404789	NM_001267550.2(TTN):c.33742+1G>T	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 1341514	NM_001267550.2(TTN):c.32240G>A (p.Gly10747Asp)	TTN (G10430D +2 more)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait +1 more	GConflicting classifications of pathogenicity
Select item 46855	NM_001267550.2(TTN):c.31763-1G>A	TTN	Single nucleotide variant (intron variant +1 more)	Tip-toe gait +6 more	GConflicting classifications of pathogenicity
Select item 288424	NM_001267550.2(TTN):c.30683-2A>T	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 1679095	NM_001267550.2(TTN):c.29870C>T (p.Thr9957Ile)	TTN (T8713I +2 more)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 130664	NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)	TTN (I8955V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 179054	NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser)	TTN (P7132S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 166151	NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)	TTN (V7078L +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 203331	NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val)	TTN (L7940V +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GConflicting classifications of pathogenicity
Select item 46717	NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)	TTN (D7768N +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +10 more	GConflicting classifications of pathogenicity
Select item 203293	NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)	LOC126806428, TTN (K6684R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 809053	NM_001267550.2(TTN):c.20395C>T (p.Arg6799Trp)	TTN (R5555W +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GUncertain significance
Select item 178252	NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg)	TTN (C4696R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 192026	NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn)	LOC126806431, TTN (D4524N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 282527	NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter)	TTN (R4186* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 1678654	NM_001267550.2(TTN):c.16160G>A (p.Arg5387Lys)	TTN (R4143K +2 more)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 46603	NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)	TTN (Q5188P +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GConflicting classifications of pathogenicity
Select item 46599	NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)	TTN (V5060L +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 1050798	NM_001267550.2(TTN):c.14920A>C (p.Thr4974Pro)	TTN (T3730P +2 more)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GUncertain significance
Select item 283986	NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser)	TTN (N4421S +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 178261	NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr)	LOC126806432, TTN (I4693T)	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1679942	NM_001267550.2(TTN):c.10603G>A (p.Gly3535Arg)	TTN (G3489R +1 more)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 47297	NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr)	TTN (I2118T +1 more)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 47256	NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)	TTN (R1998H +1 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 46910	NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)	TTN (V1034M +1 more)	Single nucleotide variant (missense variant)	not specified +11 more	GConflicting classifications of pathogenicity
Select item 46597	NM_001267550.2(TTN):c.1137A>G (p.Arg379=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more	GConflicting classifications of pathogenicity

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Items: 70