"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "DYNC2I2"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 707471	NM_052844.4(DYNC2I2):c.1350T>A (p.Val450=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GBenign/Likely benign
Select item 474844	NM_052844.4(DYNC2I2):c.1066G>A (p.Gly356Ser)	DYNC2I2, LOC126860772 (G356S)	Single nucleotide variant (missense variant)	DYNC2I2-related condition +2 more	GBenign/Likely benign
Select item 474850	NM_052844.4(DYNC2I2):c.888A>G (p.Leu296=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 425465	NM_052844.4(DYNC2I2):c.392C>T (p.Ala131Val)	DYNC2I2 (A131V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 931223	NM_052844.4(DYNC2I2):c.65C>T (p.Ala22Val)	DYNC2I2 (A22V)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +3 more	GBenign/Likely benign
Select item 3025809	NM_001122821.2(SET):c.65T>C (p.Leu22Pro)	DYNC2I2, SET (L22P)	Single nucleotide variant (missense variant)	not provided	GLikely benign

ClinVar