ClinVar for MedGen (Select 354673) - ClinVar

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Items: 77

	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 3341147	NM_002181.4(IHH):c.541del (p.Glu181fs)	IHH (E181fs)	Deletion (frameshift variant)	Brachydactyly type A1	GPathogenic
Select item 3341146	NM_002181.4(IHH):c.797dup (p.Arg267fs)	IHH (R267fs)	Duplication (frameshift variant)	Brachydactyly type A1	GPathogenic
Select item 3341145	NM_002181.4(IHH):c.319del (p.Cys107fs)	IHH (C107fs)	Deletion (frameshift variant)	Brachydactyly type A1	GPathogenic
Select item 3341144	NM_002181.4(IHH):c.532G>C (p.Val178Leu)	IHH (V178L)	Single nucleotide variant (missense variant)	Brachydactyly type A1	GPathogenic
Select item 3340483	NM_002181.4(IHH):c.446G>A (p.Arg149His)	IHH (R149H)	Single nucleotide variant (missense variant)	Brachydactyly type A1	GLikely pathogenic
Select item 2151961	NM_002181.4(IHH):c.172G>A (p.Glu58Lys)	IHH (E58K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1217222	NM_002181.4(IHH):c.478C>T (p.Arg160Cys)	IHH (R160C)	Single nucleotide variant (missense variant)	Brachydactyly type A1	GPathogenic
Select item 931290	NM_002181.4(IHH):c.316C>A (p.Arg106Ser)	IHH (R106S)	Single nucleotide variant (missense variant)	Brachydactyly type A1	GUncertain significance
Select item 929711	NM_002181.4(IHH):c.565_567dup (p.Ser189dup)	IHH	Duplication (inframe_insertion)	Brachydactyly type A1	GLikely pathogenic
Select item 899312	NM_002181.4(IHH):c.816A>G (p.Thr272=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1	GBenign
Select item 899311	NM_002181.4(IHH):c.849C>T (p.His283=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1	GUncertain significance
Select item 899310	NM_002181.4(IHH):c.909C>T (p.Tyr303=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1	GBenign
Select item 899309	NM_002181.4(IHH):c.910G>T (p.Val304Leu)	IHH (V304L)	Single nucleotide variant (missense variant)	Brachydactyly type A1 +1 more	GUncertain significance
Select item 898207	NM_002181.4(IHH):c.1130C>T (p.Pro377Leu)	IHH (P377L)	Single nucleotide variant (missense variant)	Brachydactyly type A1 +1 more	GConflicting classifications of pathogenicity
Select item 898206	NM_002181.4(IHH):c.1222G>A (p.Gly408Arg)	IHH (G408R)	Single nucleotide variant (missense variant)	Brachydactyly type A1 +1 more	GConflicting classifications of pathogenicity
Select item 897111	NM_002181.4(IHH):c.291A>C (p.Thr97=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1	GUncertain significance
Select item 897110	NM_002181.4(IHH):c.369C>T (p.Pro123=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1	GUncertain significance
Select item 896649	NM_002181.4(IHH):c.540C>T (p.Tyr180=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1 +1 more	GConflicting classifications of pathogenicity
Select item 896648	NM_002181.4(IHH):c.567C>T (p.Ser189=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1	GUncertain significance
Select item 896647	NM_002181.4(IHH):c.577+14G>C	IHH	Single nucleotide variant (intron variant)	Brachydactyly type A1	GUncertain significance
Select item 896646	NM_002181.4(IHH):c.588C>T (p.Ala196=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1	GBenign
Select item 896645	NM_002181.4(IHH):c.649C>T (p.Arg217Cys)	IHH (R217C)	Single nucleotide variant (missense variant)	Brachydactyly type A1 +1 more	GUncertain significance
Select item 896644	NM_002181.4(IHH):c.693C>G (p.Ala231=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1	GUncertain significance
Select item 896579	NM_002181.4(IHH):c.*33G>A	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1	GUncertain significance
Select item 896578	NM_002181.4(IHH):c.*217G>A	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1	GUncertain significance
Select item 896577	NM_002181.4(IHH):c.*246G>C	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1	GUncertain significance
Select item 895225	NM_002181.4(IHH):c.704A>T (p.Asp235Val)	IHH (D235V)	Single nucleotide variant (missense variant)	Brachydactyly type A1	GUncertain significance
Select item 895224	NM_002181.4(IHH):c.799C>G (p.Arg267Gly)	IHH (R267G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 895161	NM_002181.4(IHH):c.*267A>T	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1	GUncertain significance
Select item 895160	NM_002181.4(IHH):c.*300T>C	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1	GUncertain significance
Select item 895159	NM_002181.4(IHH):c.*313C>T	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1	GUncertain significance
Select item 895158	NM_002181.4(IHH):c.*368G>A	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1	GUncertain significance
Select item 895157	NM_002181.4(IHH):c.*423G>A	IHH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 895156	NM_002181.4(IHH):c.*596G>A	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1	GUncertain significance
Select item 869103	NM_002181.4(IHH):c.448G>A (p.Ala150Thr)	IHH (A150T)	Single nucleotide variant (missense variant)	Brachydactyly type A1	GLikely pathogenic
Select item 834086	NM_002181.4(IHH):c.478C>A (p.Arg160Ser)	IHH (R160S)	Single nucleotide variant (missense variant)	Brachydactyly type A1	GLikely pathogenic
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
Select item 834082	NM_002181.4(IHH):c.484A>G (p.Lys162Glu)	IHH (K162E)	Single nucleotide variant (missense variant)	Brachydactyly type A1	GLikely pathogenic
Select item 738671	NM_002181.4(IHH):c.207C>A (p.Gly69=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1 +1 more	GBenign/Likely benign
Select item 735057	NM_002181.4(IHH):c.1221C>T (p.Ser407=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1 +1 more	GLikely benign
Select item 334448	NM_002181.4(IHH):c.-18C>T	IHH	Single nucleotide variant (5 prime UTR variant)	Brachydactyly type A1	GUncertain significance
Select item 334447	NM_002181.4(IHH):c.-14C>T	IHH	Single nucleotide variant (5 prime UTR variant)	Brachydactyly type A1	GUncertain significance
Select item 334446	NM_002181.4(IHH):c.227A>C (p.Glu76Ala)	IHH (E76A)	Single nucleotide variant (missense variant)	Brachydactyly type A1	GBenign
Select item 334445	NM_002181.4(IHH):c.228G>A (p.Glu76=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1 +1 more	GBenign
Select item 334444	NM_002181.4(IHH):c.229C>A (p.Arg77Ser)	IHH (R77S)	Single nucleotide variant (missense variant)	Brachydactyly type A1 +1 more	GBenign/Likely benign
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 334442	NM_002181.4(IHH):c.702G>A (p.Glu234=)	IHH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 334441	NM_002181.4(IHH):c.717C>T (p.Thr239=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1	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 334439	NM_002181.4(IHH):c.755A>G (p.His252Arg)	IHH (H252R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 334438	NM_002181.4(IHH):c.799C>A (p.Arg267Ser)	IHH (R267S)	Single nucleotide variant (missense variant)	Brachydactyly type A1	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 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 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 334434	NM_002181.4(IHH):c.969C>T (p.His323=)	IHH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 334433	NM_002181.4(IHH):c.1101T>C (p.Phe367=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1	GUncertain significance
Select item 334432	NM_002181.4(IHH):c.*13G>A	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1	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 334430	NM_002181.4(IHH):c.*83A>T	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1 +1 more	GBenign
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 334428	NM_002181.4(IHH):c.*199G>A	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1	GUncertain significance
Select item 334427	NM_002181.4(IHH):c.*248C>A	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1	GBenign
Select item 334426	NM_002181.4(IHH):c.*397G>A	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1	GUncertain significance
Select item 334424	NM_002181.3(IHH):c.*785C>T	IHH	Single nucleotide variant	Brachydactyly type A1	GBenign
Select item 287743	NM_002181.4(IHH):c.858G>A (p.Pro286=)	IHH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 285084	NM_002181.4(IHH):c.618C>T (p.Ala206=)	IHH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 281220	NM_002181.4(IHH):c.315+8C>T	IHH	Single nucleotide variant (intron variant)	Brachydactyly type A1 +2 more	GBenign/Likely benign
Select item 8876	NM_002181.4(IHH):c.389C>A (p.Thr130Asn)	IHH (T130N)	Single nucleotide variant (missense variant)	Brachydactyly type A1	GPathogenic
Select item 8875	NM_002181.4(IHH):c.383G>A (p.Arg128Gln)	IHH (R128Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 8873	NM_002181.4(IHH):c.461C>T (p.Thr154Ile)	IHH (T154I)	Single nucleotide variant (missense variant)	Brachydactyly type A1	GPathogenic
Select item 8872	NM_002181.4(IHH):c.284A>G (p.Glu95Gly)	IHH (E95G)	Single nucleotide variant (missense variant)	Brachydactyly type A1	GPathogenic
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 8868	NM_002181.4(IHH):c.300C>A (p.Asp100Glu)	IHH (D100E)	Single nucleotide variant (missense variant)	Brachydactyly type A1	GPathogenic
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 8866	NM_002181.4(IHH):c.283G>A (p.Glu95Lys)	IHH (E95K)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 77