Related gene-specific medical variations for Gene (Select 3549) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341148	IHH, COMPLETE GENE DELETION	IHH	Deletion	Brachydactyly type A1	GPathogenic
Select item 2432837	NM_002181.4(IHH):c.577+2T>C	IHH	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1224458	NM_002181.4(IHH):c.374_387del (p.Val125fs)	IHH (V125fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 931290	NM_002181.4(IHH):c.316C>A (p.Arg106Ser)	IHH (R106S)	Single nucleotide variant (missense variant)	Brachydactyly type A1	GUncertain significance

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