ClinVar for MedGen (Select 1841185) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2503501	NM_003283.6(TNNT1):c.194A>C (p.Asp65Ala)	LOC130065089, TNNT1 (D65A +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5C, autosomal dominant	GPathogenic
Select item 940131	NM_003283.6(TNNT1):c.311A>T (p.Glu104Val)	TNNT1 (E104V +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 5	GUncertain significance