"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LOC126806422"[ - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 404855	NM_001267550.2(TTN):c.70645G>A (p.Val23549Ile)	LOC126806422, TTN +1 more (V23549I +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 202827	NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala)	LOC126806422, TTN +1 more (T21883A +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GConflicting classifications of pathogenicity
Select item 448814	NM_001267550.2(TTN):c.70485A>T (p.Lys23495Asn)	LOC126806422, TTN +1 more (K23495N +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2437916	NM_001267550.2(TTN):c.70423C>T (p.Arg23475Cys)	LOC126806422, TTN +1 more (R14410C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380878	NM_001267550.2(TTN):c.70304C>A (p.Thr23435Lys)	LOC126806422, TTN +1 more (T14370K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 47283	NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met)	LOC126806422, TTN +1 more (T23394M +5 more)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 165860	NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val)	LOC126806422, TTN +1 more (I20800V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity