ClinVar for MedGen (Select 1803615) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069203	NM_006492.3(ALX3):c.364C>T (p.Gln122Ter)	ALX3 (Q122*)	Single nucleotide variant (nonsense)	Frontorhiny	GPathogenic
Select item 1188875	NM_006492.3(ALX3):c.277+33C>T	ALX3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 559851	NM_006492.3(ALX3):c.736_737del (p.Leu246fs)	ALX3 (L246fs)	Deletion (frameshift variant)	Frontorhiny	GLikely pathogenic
Select item 4648	NM_006492.3(ALX3):c.586C>T (p.Arg196Trp)	ALX3 (R196W)	Single nucleotide variant (missense variant)	Frontorhiny	GPathogenic
Select item 4647	NM_006492.3(ALX3):c.578_581del (p.Thr193fs)	ALX3 (T193fs)	Microsatellite (frameshift variant)	Frontorhiny	GPathogenic
Select item 4646	NM_006492.3(ALX3):c.543T>A (p.Tyr181Ter)	ALX3 (Y181*)	Single nucleotide variant (nonsense)	Frontorhiny	GPathogenic
Select item 4645	NM_006492.3(ALX3):c.547C>T (p.Arg183Trp)	ALX3 (R183W)	Single nucleotide variant (missense variant)	Frontorhiny	GPathogenic
Select item 4644	NM_006492.3(ALX3):c.502C>G (p.Leu168Val)	ALX3 (L168V)	Single nucleotide variant (missense variant)	Frontorhiny	GPathogenic
Select item 4643	NM_006492.3(ALX3):c.608A>G (p.Asn203Ser)	ALX3 (N203S)	Single nucleotide variant (missense variant)	Frontorhiny	GPathogenic
Select item 4642	NM_006492.3(ALX3):c.595-2A>T	ALX3	Single nucleotide variant (splice acceptor variant)	Frontorhiny	GPathogenic