"Center for Advanced Laboratory Medicine, UC San Diego Health, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137839	NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val)	LOC126806430, TTN (I6321V +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GConflicting classifications of pathogenicity
Select item 46648	NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile)	LOC126806430, TTN (V6286I +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +6 more	GConflicting classifications of pathogenicity
Select item 46646	NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)	LOC126806430, TTN (N6275S +2 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 46644	NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)	LOC126806430, TTN (T6259S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +11 more	GConflicting classifications of pathogenicity
Select item 203272	NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)	LOC126806430, TTN (A5867T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 178250	NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu)	LOC126806430, TTN (K4865E +2 more)	Single nucleotide variant (missense variant +1 more)	TTN-related condition +8 more	GConflicting classifications of pathogenicity

ClinVar