"Clinical Genetics, Academic Medical Center"[submitter] AND "LOC126806 - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46668	NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr)	LOC126806429, TTN (A6746T +2 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy +7 more	GBenign/Likely benign
Select item 46667	NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)	LOC126806429, TTN (I6725M +2 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 46666	NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)	LOC126806429, TTN (M6716K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GBenign/Likely benign
Select item 1284519	NM_001267550.2(TTN):c.20138A>C (p.Lys6713Thr)	LOC126806429, TTN (K5469T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 203282	NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln)	LOC126806429, TTN (R6369Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 46664	NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met)	LOC126806429, TTN (T6659M +2 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy +7 more	GBenign/Likely benign
Select item 282836	NM_001267550.2(TTN):c.19881G>A (p.Ser6627=)	LOC126806429, TTN	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 535566	NM_001267550.2(TTN):c.19770A>G (p.Thr6590=)	LOC126806429, TTN	Single nucleotide variant (synonymous variant +1 more)	TTN-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 46661	NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)	LOC126806429, TTN (P6580S +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +6 more	GConflicting classifications of pathogenicity