ClinVar for MedGen (Select 979170) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584388	NM_002181.4(IHH):c.1A>G (p.Met1Val)	IHH (M1V)	Single nucleotide variant (missense variant +1 more)	Brachydactyly type A1A	GLikely pathogenic
Select item 2505482	NM_002181.4(IHH):c.787C>T (p.Gln263Ter)	IHH (Q263*)	Single nucleotide variant (nonsense)	Brachydactyly type A1A	GConflicting classifications of pathogenicity
Select item 1803981	NM_002181.4(IHH):c.415dup (p.His139fs)	IHH (H139fs)	Duplication (frameshift variant)	Brachydactyly type A1A	GPathogenic
Select item 1683476	NM_002181.4(IHH):c.851C>T (p.Thr284Met)	IHH (T284M)	Single nucleotide variant (missense variant)	Acrocapitofemoral dysplasia +1 more	GUncertain significance
Select item 334437	NM_002181.4(IHH):c.819C>T (p.Pro273=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1A +3 more	GBenign/Likely benign
Select item 8869	NM_002181.4(IHH):c.298G>A (p.Asp100Asn)	IHH (D100N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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