ClinVar for MedGen (Select 370148) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696590	NM_005853.6(IRX5):c.800C>G (p.Pro267Arg)	IRX5 (P266R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1695336	NM_005853.6(IRX5):c.503G>A (p.Arg168His)	IRX5, LOC126862355 (R168H)	Single nucleotide variant (missense variant)	Craniofacial dysplasia - osteopenia syndrome	GPathogenic
Select item 1183410	NM_005853.6(IRX5):c.763C>A (p.Pro255Thr)	IRX5 (P254T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1032363	NM_005853.6(IRX5):c.896G>A (p.Gly299Asp)	IRX5 (G298D +1 more)	Single nucleotide variant (missense variant)	Craniofacial dysplasia - osteopenia syndrome	GUncertain significance
Select item 717633	NM_005853.6(IRX5):c.691C>G (p.Arg231Gly)	IRX5 (R231G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 374379	NM_005853.6(IRX5):c.1362_1368delinsGT (p.Lys455fs)	IRX5 (K455fs +1 more)	Indel (frameshift variant)	Craniofacial dysplasia - osteopenia syndrome	GPathogenic
Select item 374378	NM_005853.6(IRX5):c.237CTC[1] (p.Ser81del)	IRX5 (S81del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 31911	NM_005853.6(IRX5):c.448G>C (p.Ala150Pro)	IRX5, LOC126862355 (A150P)	Single nucleotide variant (missense variant)	Craniofacial dysplasia - osteopenia syndrome	GPathogenic
Select item 31910	NM_005853.6(IRX5):c.498C>A (p.Asn166Lys)	IRX5, LOC126862355 (N166K)	Single nucleotide variant (missense variant)	Craniofacial dysplasia - osteopenia syndrome	GPathogenic