ClinVar for MedGen (Select 333072) - ClinVar - NCBI

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

Links from MedGen

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1286613	NM_015330.6(SPECC1L):c.2560+46C>T	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1282641	NM_015330.6(SPECC1L):c.570G>A (p.Thr190=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GBenign
Select item 1033768	NM_015330.6(SPECC1L):c.2454G>A (p.Leu818=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	Oculomaxillofacial dysostosis	GUncertain significance
Select item 803647	NM_015330.6(SPECC1L):c.2851G>A (p.Val951Met)	SPECC1L, SPECC1L-ADORA2A (V17M +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Oculomaxillofacial dysostosis +3 more	GBenign
Select item 731574	NM_015330.6(SPECC1L):c.153+5T>G	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 712283	NM_015330.6(SPECC1L):c.1359C>T (p.Ser453=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	Teebi hypertelorism syndrome 1 +3 more	GBenign/Likely benign
Select item 708645	NM_015330.6(SPECC1L):c.2149A>G (p.Thr717Ala)	SPECC1L, SPECC1L-ADORA2A (T717A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 445410	NM_015330.6(SPECC1L):c.562C>T (p.Leu188Phe)	SPECC1L, SPECC1L-ADORA2A (L188F)	Single nucleotide variant (non-coding transcript variant +1 more)	Teebi hypertelorism syndrome 1 +2 more	GBenign/Likely benign
Select item 31101	NM_015330.6(SPECC1L):c.1244A>C (p.Gln415Pro)	SPECC1L, SPECC1L-ADORA2A (Q415P)	Single nucleotide variant (non-coding transcript variant +1 more)	Oculomaxillofacial dysostosis	GPathogenic