ClinVar for MedGen (Select 989457) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066111	NM_015330.6(SPECC1L):c.3314T>G (p.Met1105Arg)	SPECC1L, SPECC1L-ADORA2A (M1066R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Teebi hypertelorism syndrome 1	GUncertain significance
Select item 2664281	NM_015330.6(SPECC1L):c.578A>G (p.Lys193Arg)	SPECC1L, SPECC1L-ADORA2A (K193R)	Single nucleotide variant (non-coding transcript variant +1 more)	Teebi hypertelorism syndrome 1	GUncertain significance
Select item 1708090	NM_015330.6(SPECC1L):c.1062del (p.Gln354fs)	SPECC1L, SPECC1L-ADORA2A (Q354fs)	Deletion (frameshift variant +1 more)	Teebi hypertelorism syndrome 1	GUncertain significance
Select item 1684289	NM_015330.6(SPECC1L):c.3137_3139del (p.Phe1046del)	SPECC1L, SPECC1L-ADORA2A (F1046del +1 more)	Deletion (non-coding transcript variant +2 more)	Teebi hypertelorism syndrome 1	GUncertain significance
Select item 1679678	NM_015330.6(SPECC1L):c.539C>G (p.Ala180Gly)	SPECC1L, SPECC1L-ADORA2A (A180G)	Single nucleotide variant (non-coding transcript variant +1 more)	Teebi hypertelorism syndrome 1	GUncertain significance
Select item 1676270	NM_015330.6(SPECC1L):c.1195C>G (p.Arg399Gly)	SPECC1L, SPECC1L-ADORA2A (R399G)	Single nucleotide variant (non-coding transcript variant +1 more)	Teebi hypertelorism syndrome 1	GPathogenic
Select item 731574	NM_015330.6(SPECC1L):c.153+5T>G	SPECC1L-ADORA2A, SPECC1L	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 712283	NM_015330.6(SPECC1L):c.1359C>T (p.Ser453=)	SPECC1L-ADORA2A, SPECC1L	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +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)	Teebi hypertelorism syndrome 1 +3 more	GBenign/Likely benign
Select item 599382	NM_015330.6(SPECC1L):c.1249A>C (p.Thr417Pro)	SPECC1L, SPECC1L-ADORA2A (T417P)	Single nucleotide variant (non-coding transcript variant +1 more)	Teebi hypertelorism syndrome +1 more	GPathogenic/Likely 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)	Teebi hypertelorism syndrome 1 +1 more	GPathogenic/Likely pathogenic
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
Select item 445410	NM_015330.6(SPECC1L):c.562C>T (p.Leu188Phe)	SPECC1L-ADORA2A, SPECC1L (L188F)	Single nucleotide variant (non-coding transcript variant +1 more)	Oculomaxillofacial dysostosis +2 more	GBenign/Likely benign
Select item 183672	NM_015330.6(SPECC1L):c.3247G>A (p.Gly1083Ser)	SPECC1L, SPECC1L-ADORA2A (G1083S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Teebi hypertelorism syndrome 1 +1 more	GConflicting classifications of pathogenicity
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