CN294812[trait identifier] AND "Molecular Genetics, Royal Melbourne Ho - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 47675	NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)	TTN, TTN-AS1 (R34859Q +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +10 more	GBenign/Likely benign
Select item 47633	NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)	TTN, TTN-AS1 (R33738C +5 more)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 47520	NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)	TTN, TTN-AS1 (P30726S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +14 more	GConflicting classifications of pathogenicity
Select item 47501	NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)	TTN, TTN-AS1 (C30276G +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +10 more	GConflicting classifications of pathogenicity
Select item 47308	NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 47265	NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)	TTN, TTN-AS1 (P23044S +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +13 more	GConflicting classifications of pathogenicity
Select item 46599	NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)	TTN (V5060L +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +10 more	GConflicting classifications of pathogenicity
Select item 46579	NM_001267550.2(TTN):c.10114+5G>A	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 47256	NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)	TTN (R1998H +1 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 46597	NM_001267550.2(TTN):c.1137A>G (p.Arg379=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more	GConflicting classifications of pathogenicity