"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 593247	NM_002181.4(IHH):c.1128T>C (p.Thr376=)	IHH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 334435	NM_002181.4(IHH):c.873G>A (p.Arg291=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1 +2 more	GBenign/Likely benign
Select item 334436	NM_002181.4(IHH):c.857C>T (p.Pro286Leu)	IHH (P286L)	Single nucleotide variant (missense variant)	IHH-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1206307	NM_002181.4(IHH):c.836C>T (p.Thr279Met)	IHH (T279M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 334440	NM_002181.4(IHH):c.753T>C (p.Pro251=)	IHH	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 285084	NM_002181.4(IHH):c.618C>T (p.Ala206=)	IHH	Single nucleotide variant (synonymous variant)	IHH-related disorder +3 more	GBenign
Select item 281220	NM_002181.4(IHH):c.315+8C>T	IHH	Single nucleotide variant (intron variant)	IHH-related disorder +3 more	GBenign/Likely benign
Select item 834083	NM_002181.4(IHH):c.280GAG[1] (p.Glu95del)	IHH (E95del)	Microsatellite (inframe_deletion)	Brachydactyly type A1 +1 more	GPathogenic/Likely pathogenic

ClinVar