"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 202529	NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)	TTN, TTN-AS1 (Q34238* +5 more)	Single nucleotide variant (nonsense)	Early-onset myopathy with fatal cardiomyopathy +14 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 932091	NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs)	TTN, TTN-AS1 (R32130fs +5 more)	Indel (frameshift variant)	Tibial muscular dystrophy	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 47622	NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)	LOC126806420, TTN +1 more (C33331R +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 931298	NM_001267550.2(TTN):c.97900G>A (p.Gly32634Ser)	TTN, TTN-AS1 (G23569S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 378830	NM_001267550.2(TTN):c.97193-16T>G	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Tibial muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 931872	NM_001267550.2(TTN):c.96887C>T (p.Thr32296Ile)	LOC126806421, TTN +1 more (T29728I +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy	GUncertain significance
Select item 203002	NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser)	TTN-AS1, TTN (R29787S +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GConflicting classifications of pathogenicity
Select item 179037	NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)	TTN, TTN-AS1 (K28700T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more	GConflicting classifications of pathogenicity
Select item 47409	NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)	TTN, TTN-AS1 (I27407T +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 47404	NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)	TTN-AS1, TTN (R24732H +5 more)	Single nucleotide variant (missense variant)	Myopathy +6 more	GConflicting classifications of pathogenicity
Select item 932043	NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs)	TTN, TTN-AS1 (E17660fs +5 more)	Deletion (frameshift variant)	Tibial muscular dystrophy	GLikely pathogenic
Select item 932055	NM_001267550.2(TTN):c.78989G>A (p.Ser26330Asn)	TTN, TTN-AS1 (S17265N +5 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 374037	NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter)	TTN, TTN-AS1 (W24856* +5 more)	Single nucleotide variant (nonsense)	Myopathy	GPathogenic
Select item 179981	NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr)	TTN, TTN-AS1 (S21967Y +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GConflicting classifications of pathogenicity
Select item 202847	NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys)	TTN, TTN-AS1 (R22794C +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 191910	NM_001267550.2(TTN):c.68824+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Spinal rigidity +5 more	GUncertain significance
Select item 930809	NM_001267550.2(TTN):c.63709A>G (p.Thr21237Ala)	TTN, TTN-AS1 (T12172A +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 47160	NM_001267550.2(TTN):c.60232G>A (p.Val20078Met)	TTN, TTN-AS1 (V20078M +5 more)	Single nucleotide variant (missense variant)	not specified +10 more	GBenign/Likely benign
Select item 931526	NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs)	TTN-AS1, TTN (Y16889fs +5 more)	Duplication (frameshift variant)	Tibial muscular dystrophy	GLikely pathogenic
Select item 931929	NM_001267550.2(TTN):c.52102+5G>A	TTN, TTN-AS1	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 202377	NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)	TTN, TTN-AS1 (R15054* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 523430	NM_001267550.2(TTN):c.47961del (p.Gly15988fs)	TTN, TTN-AS1 (G15988fs +5 more)	Deletion (frameshift variant)	Tibial muscular dystrophy +4 more	GPathogenic
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 191971	NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)	TTN (D11273N +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more	GConflicting classifications of pathogenicity
Select item 523429	NM_001267550.2(TTN):c.35265dup (p.Pro11756fs)	TTN (P11382fs +2 more)	Duplication (frameshift variant +1 more)	Myopathy +2 more	GConflicting classifications of pathogenicity
Select item 238749	NM_001267550.2(TTN):c.34708+8C>A	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +7 more	GBenign/Likely benign
Select item 46882	NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)	TTN (R11018Q +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 931513	NM_001267550.2(TTN):c.30683-28_30683-16del	TTN	Deletion (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 373901	NM_001267550.2(TTN):c.30395A>G (p.His10132Arg)	TTN (H10132R +2 more)	Single nucleotide variant (missense variant +1 more)	Restrictive ventilatory defect +4 more	GUncertain significance
Select item 46820	NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)	TTN (R9744C +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 932120	NM_001267550.2(TTN):c.27709T>C (p.Ser9237Pro)	TTN (S7993P +2 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy	GUncertain significance
Select item 930383	NM_001267550.2(TTN):c.27328+19C>G	TTN	Single nucleotide variant (intron variant)	Tibial muscular dystrophy	GUncertain significance
Select item 930810	NM_001267550.2(TTN):c.27152G>C (p.Ser9051Thr)	TTN (S8734T +2 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy	GUncertain significance
Select item 46785	NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)	TTN (N8891S +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +6 more	GConflicting classifications of pathogenicity
Select item 523428	NM_001267550.2(TTN):c.20836+1G>A	TTN	Single nucleotide variant (intron variant +1 more)	Noncompaction cardiomyopathy	GPathogenic
Select item 930665	NM_001267550.2(TTN):c.18055_18056del (p.Gln6019fs)	TTN (Q5702fs +2 more)	Microsatellite (frameshift variant +1 more)	Tibial muscular dystrophy	GUncertain significance
Select item 931567	NM_001267550.2(TTN):c.17278del (p.Thr5760fs)	LOC126806431, TTN (T5760fs +2 more)	Deletion (frameshift variant +1 more)	Tibial muscular dystrophy	GUncertain significance
Select item 931527	NM_001267550.2(TTN):c.16212G>C (p.Arg5404Ser)	TTN (R5404S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 374150	NM_001267550.2(TTN):c.12614T>C (p.Leu4205Ser)	TTN (L4205S +4 more)	Single nucleotide variant (missense variant +1 more)	Right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 523427	NM_001267550.2(TTN):c.11444A>C (p.Lys3815Thr)	TTN (K3815T +4 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy +4 more	GUncertain significance
Select item 166247	NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter)	TTN (E5506*)	Single nucleotide variant (nonsense +1 more)	not specified +8 more	GUncertain significance
Select item 931165	NM_133379.5(TTN):c.14407G>A (p.Glu4803Lys)	LOC126806432, TTN (E4803K)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy	GUncertain significance
Select item 47753	NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg)	TTN (K4455R)	Single nucleotide variant (intron variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 931871	NM_001267550.2(TTN):c.8894C>A (p.Thr2965Lys)	TTN (T2919K +1 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy	GUncertain significance
Select item 195838	NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys)	LOC101927055, TTN (R1330C +1 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 46931	NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)	TTN (A1081T +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 48