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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPECC1L, SPECC1L-ADORA2A
(K193R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Teebi hypertelorism syndrome 1
GUncertain significance
SPECC1L, SPECC1L-ADORA2A
(Q354fs)
Deletion
(frameshift variant +1 more)
Teebi hypertelorism syndrome 1
GUncertain significance
SPECC1L, SPECC1L-ADORA2A
(F1046del +1 more)
Deletion
(non-coding transcript variant +2 more)
Teebi hypertelorism syndrome 1
GUncertain significance
SPECC1L, SPECC1L-ADORA2A
(A180G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Teebi hypertelorism syndrome 1
GUncertain significance
SPECC1L, SPECC1L-ADORA2A
(R399G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Teebi hypertelorism syndrome 1
GPathogenic
SPECC1L, SPECC1L-ADORA2A
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
SPECC1L, SPECC1L-ADORA2A
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+3 more
GBenign/Likely benign
SPECC1L, SPECC1L-ADORA2A
(T717A)
Single nucleotide variant
(non-coding transcript variant +1 more)
Oculomaxillofacial dysostosis
+2 more
GBenign/Likely benign
SPECC1L, SPECC1L-ADORA2A
(T417P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Teebi hypertelorism syndrome
+1 more
GPathogenic/Likely pathogenic
SPECC1L, SPECC1L-ADORA2A
(E420K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Teebi hypertelorism syndrome 1
+1 more
GPathogenic
SPECC1L, SPECC1L-ADORA2A
(A416T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Teebi hypertelorism syndrome 1
+1 more
GPathogenic/Likely pathogenic
SPECC1L, SPECC1L-ADORA2A
(R1098Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic
SPECC1L, SPECC1L-ADORA2A
(L188F)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
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
SPECC1L, SPECC1L-ADORA2A
(T397P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
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