ClinVar (all) for Orgtrack (Select 506089) - ClinVar

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

Format

Sort by

Choose Destination

Links from Orgtrack

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 916551	NM_000208.4(INSR):c.632C>T (p.Thr211Ile)	INSR (T211I)	Single nucleotide variant (missense variant)	Leprechaunism syndrome	GPathogenic
Select item 208852	NM_000208.4(INSR):c.394G>A (p.Gly132Ser)	INSR (G132S)	Single nucleotide variant (missense variant)	Rabson-Mendenhall syndrome	GPathogenic