ClinVar (all) for Orgtrack (Select 506647) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 561341	NM_015330.6(SPECC1L):c.3026A>C (p.Tyr1009Ser)	SPECC1L, SPECC1L-ADORA2A (Y1009S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Teebi hypertelorism syndrome	GLikely pathogenic
Select item 561340	NM_015330.6(SPECC1L):c.1382G>A (p.Arg461Gln)	SPECC1L, SPECC1L-ADORA2A (R461Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 561339	NM_015330.6(SPECC1L):c.1300G>A (p.Glu434Lys)	SPECC1L, SPECC1L-ADORA2A (E434K)	Single nucleotide variant (non-coding transcript variant +1 more)	Teebi hypertelorism syndrome	GLikely pathogenic
Select item 561338	NM_015330.6(SPECC1L):c.1258G>A (p.Glu420Lys)	SPECC1L, SPECC1L-ADORA2A (E420K)	Single nucleotide variant (non-coding transcript variant +1 more)	Teebi hypertelorism syndrome 1 +1 more	GPathogenic
Select item 561337	NM_015330.6(SPECC1L):c.1246G>A (p.Ala416Thr)	SPECC1L, SPECC1L-ADORA2A (A416T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 445948	NM_015330.6(SPECC1L):c.3293G>A (p.Arg1098Gln)	SPECC1L, SPECC1L-ADORA2A (R1098Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 183671	NM_015330.6(SPECC1L):c.1189A>C (p.Thr397Pro)	SPECC1L, SPECC1L-ADORA2A (T397P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic

ClinVar