ClinVar for MedGen (Select 481703) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254791	NM_001142784.3(IL11RA):c.331+6T>G	IL11RA	Single nucleotide variant (intron variant)	Craniosynostosis and dental anomalies	GUncertain significance
Select item 1064613	NM_001142784.3(IL11RA):c.810G>A (p.Thr270=)	IL11RA	Single nucleotide variant (synonymous variant +1 more)	Craniosynostosis and dental anomalies	GLikely pathogenic
Select item 981196	NM_001142784.3(IL11RA):c.281G>T (p.Cys94Phe)	IL11RA (C94F)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis and dental anomalies	GLikely pathogenic
Select item 981195	NM_001142784.3(IL11RA):c.781C>T (p.Arg261Cys)	IL11RA (R261C)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis and dental anomalies	GLikely pathogenic
Select item 522708	NM_001142784.3(IL11RA):c.331+2T>C	IL11RA	Single nucleotide variant (splice donor variant)	Craniosynostosis and dental anomalies	GUncertain significance
Select item 30140	NM_001142784.3(IL11RA):c.907ACCTGGAGC[3] (p.Ser308_Pro309insThrTrpSer)	IL11RA	Microsatellite (inframe_insertion +1 more)	not provided	GPathogenic
Select item 30139	NM_001142784.3(IL11RA):c.475C>T (p.Gln159Ter)	IL11RA (Q159*)	Single nucleotide variant (nonsense +1 more)	Craniosynostosis and dental anomalies	GPathogenic
Select item 30138	NM_001142784.3(IL11RA):c.734C>G (p.Ser245Cys)	IL11RA (S245C)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis and dental anomalies	GPathogenic
Select item 30137	NM_001142784.3(IL11RA):c.662C>G (p.Pro221Arg)	IL11RA (P221R)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis and dental anomalies	GLikely pathogenic
Select item 30136	NM_001142784.3(IL11RA):c.886C>T (p.Arg296Trp)	IL11RA (R296W)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis and dental anomalies	GPathogenic