ClinVar (all) for Orgtrack (Select 504732) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 140483	NM_003282.4(TNNI2):c.186+26G>A	TNNI2	Single nucleotide variant (intron variant)	Distal arthrogryposis type 2B1 +2 more	GBenign
Select item 140482	NM_003282.4(TNNI2):c.15+21C>G	TNNI2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 140481	NM_003282.4(TNNI2):c.15+140C>A	TNNI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 94120	NM_003282.4(TNNI2):c.60T>C (p.Ser20=)	TNNI2	Single nucleotide variant (synonymous variant)	Distal arthrogryposis type 2B1 +3 more	GBenign/Likely benign
Select item 12439	NM_003282.4(TNNI2):c.496GAG[1] (p.Glu167del)	TNNI2 (E167del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 12437	NM_003282.4(TNNI2):c.524AGA[1] (p.Lys176del)	TNNI2 (K176del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 12436	NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter)	TNNI2 (R156*)	Single nucleotide variant (nonsense)	Distal arthrogryposis type 2B1 +5 more	GPathogenic
Select item 12435	NM_003282.4(TNNI2):c.521G>A (p.Arg174Gln)	TNNI2 (R174Q)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +1 more	GPathogenic

ClinVar