ClinVar for MedGen (Select 977321) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376807	NM_001267550.2(TTN):c.21068A>C (p.Gln7023Pro)	LOC126806428, TTN (Q5779P +2 more)	Single nucleotide variant (missense variant +1 more)	TTN-related myopathy	GUncertain significance
Select item 3376656	NM_001267550.2(TTN):c.86424_86425del (p.Ser28809fs)	TTN, TTN-AS1 (S19744fs +5 more)	Deletion (frameshift variant)	TTN-related myopathy	GLikely pathogenic
Select item 3376609	NM_001267550.2(TTN):c.75020G>A (p.Cys25007Tyr)	TTN, TTN-AS1 (C15942Y +5 more)	Single nucleotide variant (missense variant)	TTN-related myopathy	GUncertain significance
Select item 3376606	NM_001267550.2(TTN):c.37193del (p.Pro12398fs)	TTN (P12398fs)	Deletion (frameshift variant +1 more)	TTN-related myopathy	GLikely pathogenic
Select item 2114231	NM_001267550.2(TTN):c.96901del (p.Arg32301fs)	LOC126806421, TTN +1 more (R23361fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GConflicting classifications of pathogenicity
Select item 1757880	NM_001267550.2(TTN):c.99643C>T (p.Arg33215Trp)	LOC126806420, TTN +1 more (R24275W +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1199224	NM_001267550.2(TTN):c.31753C>G (p.Pro10585Ala)	TTN (P10268A +2 more)	Single nucleotide variant (missense variant +1 more)	TTN-related myopathy	GUncertain significance
Select item 1065190	NM_001267550.2(TTN):c.53918del (p.Gly17973fs)	TTN, TTN-AS1 (G15405fs +5 more)	Deletion (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 1027852	NM_001267550.2(TTN):c.35678_35685delinsA (p.Thr11893fs)	TTN (T11893fs)	Indel (frameshift variant +1 more)	TTN-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 987382	NM_001267550.2(TTN):c.39974-11T>G	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +8 more	GPathogenic/Likely pathogenic
Select item 937891	NM_001267550.2(TTN):c.35713+1G>A	TTN	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 577790	NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter)	TTN, TTN-AS1 (Y27241* +5 more)	Single nucleotide variant (nonsense)	TTN-related myopathy +3 more	GPathogenic/Likely pathogenic
Select item 424834	NM_001267550.2(TTN):c.[32471-1G>A];[55732+5G>C]			Autosomal recessive limb-girdle muscular dystrophy type 2J	GLikely pathogenic
Select item 404903	NM_001267550.2(TTN):c.15496+1G>T	TTN	Single nucleotide variant (intron variant +1 more)	TTN-related myopathy +3 more	GConflicting classifications of pathogenicity
Select item 404838	NM_001267550.2(TTN):c.83629C>T (p.Arg27877Cys)	TTN, TTN-AS1 (R27877C +5 more)	Single nucleotide variant (missense variant)	TTN-related myopathy +3 more	GConflicting classifications of pathogenicity
Select item 404786	NM_001267550.2(TTN):c.10303+2T>C	TTN	Single nucleotide variant (splice donor variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 332680	NM_001267550.2(TTN):c.106723G>A (p.Glu35575Lys)	TTN, TTN-AS1 (E33007K +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +6 more	GUncertain significance
Select item 288119	NM_001267550.2(TTN):c.104399del (p.Arg34800fs)	TTN, TTN-AS1 (R25735fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 263764	NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)	TTN-AS1, TTN (R27105* +5 more)	Single nucleotide variant (nonsense)	TTN-related myopathy +4 more	GPathogenic/Likely pathogenic
Select item 226126	NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs)	TTN (K12887fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 202529	NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)	TTN, TTN-AS1 (Q34238* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +14 more	GConflicting classifications of pathogenicity
Select item 202452	NM_001267550.2(TTN):c.54112del (p.Glu18038fs)	TTN, TTN-AS1 (E16397fs +5 more)	Deletion (non-coding transcript variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 194146	NM_001267550.2(TTN):c.32471-1G>A	TTN	Single nucleotide variant (intron variant +1 more)	TTN-related myopathy +7 more	GConflicting classifications of pathogenicity
Select item 192135	NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)	TTN, TTN-AS1 (E32991Q +5 more)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 192062	NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp)	TTN (E3590D +1 more)	Single nucleotide variant (missense variant +1 more)	TTN-related myopathy +7 more	GConflicting classifications of pathogenicity
Select item 47799	NM_133379.5(TTN):c.16328T>C (p.Val5443Ala)	TTN (V5443A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 47675	NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)	TTN, TTN-AS1 (R34859Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GBenign/Likely benign
Select item 47633	NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)	TTN, TTN-AS1 (R33738C +5 more)	Single nucleotide variant (missense variant)	Atrial fibrillation +10 more	GConflicting classifications of pathogenicity
Select item 47542	NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met)	TTN, TTN-AS1 (I31543M +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
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 +13 more	GConflicting classifications of pathogenicity
Select item 47501	NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)	TTN, TTN-AS1 (C30276G +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +10 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)	Autosomal recessive limb-girdle muscular dystrophy type 2J +9 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)	Hypertrophic cardiomyopathy +13 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)	Cardiomyopathy +9 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)	Tibial muscular dystrophy +10 more	GConflicting classifications of pathogenicity
Select item 46597	NM_001267550.2(TTN):c.1137A>G (p.Arg379=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 46579	NM_001267550.2(TTN):c.10114+5G>A	TTN	Single nucleotide variant (intron variant)	Tibial muscular dystrophy +9 more	GConflicting classifications of pathogenicity

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Items: 37