"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126806425"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 202274	NM_001267550.2(TTN):c.53288-18G>T	LOC126806425, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +6 more	GBenign/Likely benign
Select item 212471	NM_001267550.2(TTN):c.53213A>T (p.Asp17738Val)	LOC126806425, TTN +1 more (D15170V +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GUncertain significance
Select item 1284639	NM_001267550.2(TTN):c.53207G>A (p.Arg17736Gln)	LOC126806425, TTN +1 more (R15168Q +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 202708	NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)	LOC126806425, TTN +1 more (I16079T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GConflicting classifications of pathogenicity
Select item 47073	NM_001267550.2(TTN):c.53149C>T (p.Arg17717Cys)	TTN-AS1, TTN +1 more (R17717C +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 283934	NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val)	LOC126806425, TTN +1 more (K8643V +5 more)	Indel (missense variant)	Cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 202707	NM_001267550.2(TTN):c.53060G>T (p.Gly17687Val)	LOC126806425, TTN +1 more (G16046V +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 195714	NM_001267550.2(TTN):c.52880G>A (p.Arg17627His)	LOC126806425, TTN +1 more (R17627H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 202704	NM_001267550.2(TTN):c.52831G>A (p.Val17611Ile)	LOC126806425, TTN +1 more (V15970I +5 more)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 1284326	NM_001267550.2(TTN):c.52788T>A (p.Asn17596Lys)	LOC126806425, TTN +1 more (N15028K +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 238797	NM_001267550.2(TTN):c.52706C>A (p.Ser17569Tyr)	LOC126806425, TTN +1 more (S17569Y +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 191138	NM_001267550.2(TTN):c.52553G>A (p.Arg17518His)	LOC126806425, TTN +1 more (R17518H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GConflicting classifications of pathogenicity