ClinVar for MedGen (Select 334681) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572410	NM_002181.4(IHH):c.518C>A (p.Ala173Asp)	IHH (A173D)	Single nucleotide variant (missense variant)	Acrocapitofemoral dysplasia	GUncertain significance
Select item 1691308	NM_002181.4(IHH):c.217C>T (p.Arg73Cys)	IHH (R73C)	Single nucleotide variant (missense variant)	Acrocapitofemoral dysplasia	GUncertain significance
Select item 1683476	NM_002181.4(IHH):c.851C>T (p.Thr284Met)	IHH (T284M)	Single nucleotide variant (missense variant)	Brachydactyly type A1A +1 more	GUncertain significance
Select item 1683475	NM_002181.4(IHH):c.1021G>A (p.Glu341Lys)	IHH (E341K)	Single nucleotide variant (missense variant)	Acrocapitofemoral dysplasia	GUncertain significance
Select item 1217222	NM_002181.4(IHH):c.478C>T (p.Arg160Cys)	IHH (R160C)	Single nucleotide variant (missense variant)	Acrocapitofemoral dysplasia	GPathogenic/Likely pathogenic
Select item 1030530	NM_002181.4(IHH):c.88C>A (p.Pro30Thr)	IHH (P30T)	Single nucleotide variant (missense variant)	Acrocapitofemoral dysplasia	GUncertain significance
Select item 800998	NM_002181.4(IHH):c.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla)	IHH	Indel (inframe_indel)	Acrocapitofemoral dysplasia	GUncertain significance
Select item 800918	NM_002181.4(IHH):c.352G>A (p.Val118Met)	IHH (V118M)	Single nucleotide variant (missense variant)	Acrocapitofemoral dysplasia	GLikely pathogenic
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 334443	NM_002181.4(IHH):c.600G>A (p.Thr200=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1 +2 more	GBenign
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 334437	NM_002181.4(IHH):c.819C>T (p.Pro273=)	IHH	Single nucleotide variant (synonymous variant)	Acrocapitofemoral dysplasia +3 more	GBenign/Likely benign
Select item 8871	NM_002181.4(IHH):c.569T>C (p.Val190Ala)	IHH (V190A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 8870	NM_002181.4(IHH):c.137C>T (p.Pro46Leu)	IHH (P46L)	Single nucleotide variant (missense variant)	Acrocapitofemoral dysplasia	GPathogenic