"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 179648	NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val)	TTN, TTN-AS1 (A32186V +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 374145	NM_001267550.2(TTN):c.103360del (p.Glu34454fs)	TTN, TTN-AS1 (E25514fs +5 more)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 9 +12 more	GConflicting classifications of pathogenicity
Select item 1297053	NM_001267550.2(TTN):c.100590C>G (p.Tyr33530Ter)	TTN, TTN-AS1 (Y24465* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 975933	NM_001267550.2(TTN):c.97560G>A (p.Trp32520Ter)	TTN, TTN-AS1 (W23455* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GPathogenic
Select item 2502350	NM_001267550.2(TTN):c.97472_97473del (p.Ile32491fs)	TTN, TTN-AS1 (I23426fs +5 more)	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 1338801	NM_001267550.2(TTN):c.96464del (p.Val32155fs)	LOC126806421, TTN +1 more (V23090fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 975930	NM_001267550.2(TTN):c.87315dup (p.Glu29106fs)	TTN, TTN-AS1 (E20041fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2505120	NM_001267550.2(TTN):c.86168del (p.Phe28723fs)	TTN, TTN-AS1 (F19658fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GPathogenic
Select item 1067831	NM_001267550.2(TTN):c.80762_80765del (p.Lys26921fs)	TTN, TTN-AS1 (K17856fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 202399	NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)	TTN-AS1, TTN (R20026* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +7 more	GPathogenic/Likely pathogenic
Select item 982684	NM_001267550.2(TTN):c.61009G>T (p.Glu20337Ter)	TTN, TTN-AS1 (E11272* +5 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 9	GLikely pathogenic
Select item 982577	NM_001267550.2(TTN):c.60988T>C (p.Phe20330Leu)	TTN, TTN-AS1 (F11265L +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure	GUncertain significance
Select item 202718	NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser)	TTN, TTN-AS1 (A16625S +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 1795471	NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)	TTN, TTN-AS1 (R9153* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 2430248	NM_001267550.2(TTN):c.54406_54409del (p.Gln18136fs)	TTN, TTN-AS1 (Q15568fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GPathogenic
Select item 202702	NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)	LOC126806425, TTN +1 more (I15927V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 983050	NM_001267550.2(TTN):c.52515G>A (p.Trp17505Ter)	LOC126806425, TTN +1 more (W14937* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 982683	NM_001267550.2(TTN):c.49621G>T (p.Glu16541Ter)	TTN, TTN-AS1 (E13973* +5 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 9	GUncertain significance
Select item 2576612	NM_001267550.2(TTN):c.48638+1del	LOC126806426, TTN +1 more	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 535020	NM_001267550.2(TTN):c.38424del (p.Lys12809fs)	TTN (K12809fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 1285459	NM_001267550.2(TTN):c.28383del (p.Gly9462fs)	TTN (G8218fs +2 more)	Deletion (frameshift variant +1 more)	Hypertrophic cardiomyopathy 9	GUncertain significance
Select item 873434	NM_001267550.2(TTN):c.7057+1G>A	LOC126806433, TTN	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 191143	NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)	LOC126806433, TTN (R2320H +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 203120	NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu)	LOC101927055, TTN (M1279L +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 982682	NM_001267550.2(TTN):c.2447T>C (p.Phe816Ser)	TTN (F770S +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9	GUncertain significance

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Items: 25