"GeneDx"[submitter] AND "IHH"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 334429	NM_002181.4(IHH):c.*175C>G	IHH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 334431	NM_002181.4(IHH):c.*25G>T	IHH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 287491	NM_002181.4(IHH):c.1169G>A (p.Arg390His)	IHH (R390H)	Single nucleotide variant (missense variant)	Brachydactyly type A1 +1 more	GUncertain significance
Select item 1308429	NM_002181.4(IHH):c.1151A>G (p.Tyr384Cys)	IHH (Y384C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309374	NM_002181.4(IHH):c.1091del (p.Leu364fs)	IHH (L364fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 334434	NM_002181.4(IHH):c.969C>T (p.His323=)	IHH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 289063	NM_002181.4(IHH):c.949G>A (p.Val317Met)	IHH (V317M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1306609	NM_002181.4(IHH):c.925G>A (p.Val309Met)	IHH (V309M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1350770	NM_002181.4(IHH):c.872G>A (p.Arg291Gln)	IHH (R291Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 334436	NM_002181.4(IHH):c.857C>T (p.Pro286Leu)	IHH (P286L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 334439	NM_002181.4(IHH):c.755A>G (p.His252Arg)	IHH (H252R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 334440	NM_002181.4(IHH):c.753T>C (p.Pro251=)	IHH	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1313606	NM_002181.4(IHH):c.650G>A (p.Arg217His)	IHH (R217H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311641	NM_002181.4(IHH):c.647C>T (p.Ala216Val)	IHH (A216V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 285084	NM_002181.4(IHH):c.618C>T (p.Ala206=)	IHH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 334443	NM_002181.4(IHH):c.600G>A (p.Thr200=)	IHH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1252434	NM_002181.4(IHH):c.578-235G>A	IHH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244471	NM_002181.4(IHH):c.577+99G>T	IHH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262614	NM_002181.4(IHH):c.577+81dup	IHH	Duplication (intron variant)	not provided	GBenign
Select item 1707869	NM_002181.4(IHH):c.545_546insTTT (p.Ser182_Lys183insLeu)	IHH	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2504342	NM_002181.4(IHH):c.531G>A (p.Trp177Ter)	IHH (W177*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 8867	NM_002181.4(IHH):c.391G>A (p.Glu131Lys)	IHH (E131K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1275900	NM_002181.4(IHH):c.316-153G>T	IHH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270575	NM_002181.4(IHH):c.316-226T>C	IHH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 8869	NM_002181.4(IHH):c.298G>A (p.Asp100Asn)	IHH (D100N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 286350	NM_002181.4(IHH):c.228_229delinsAA (p.Arg77Ser)	IHH (R77S)	Indel (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1723530	NM_002181.4(IHH):c.89C>T (p.Pro30Leu)	IHH (P30L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342441	NM_002181.4(IHH):c.-5del	IHH	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 369330	NM_002181.4(IHH):c.-58C>T	IHH	Single nucleotide variant (5 prime UTR variant)	Brachydactyly +1 more	GLikely benign
Select item 1206844	NM_002181.4(IHH):c.-81C>A	IHH	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1197357	NM_002181.4(IHH):c.-251C>A	IHH	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign

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Items: 33