ClinVar for Gene (Select 3549) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344230	NM_002181.4(IHH):c.85G>T (p.Gly29Trp)	IHH (G29W)	Single nucleotide variant (missense variant)	IHH-related disorder	GUncertain significance
Select item 3342441	NM_002181.4(IHH):c.-5del	IHH	Deletion (5 prime UTR variant)	not provided	GUncertain significance
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 3285694	NM_002181.4(IHH):c.602G>A (p.Gly201Asp)	IHH (G201D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3285693	NM_002181.4(IHH):c.697G>C (p.Gly233Arg)	IHH (G233R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247494	NC_000002.11:g.(?_219646906)_(219942948_?)dup	CDK5R2, CFAP65 +9 more	Duplication	not provided	GUncertain significance
Select item 3247493	NC_000002.11:g.(?_219919929)_(219942948_?)del	IHH, NHEJ1	Deletion	not provided	GPathogenic
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3108971	NM_002181.4(IHH):c.1177C>G (p.Arg393Gly)	IHH (R393G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068543	NM_002181.4(IHH):c.382C>T (p.Arg128Trp)	IHH (R128W)	Single nucleotide variant (missense variant)	Brachydactyly	GUncertain significance
Select item 3056112	NM_002181.4(IHH):c.25C>A (p.Arg9=)	IHH	Single nucleotide variant (synonymous variant)	IHH-related disorder	GLikely benign
Select item 3048859	NM_002181.4(IHH):c.916G>T (p.Val306Leu)	IHH (V306L)	Single nucleotide variant (missense variant)	IHH-related disorder	GUncertain significance
Select item 3022718	NM_002181.4(IHH):c.1118G>A (p.Gly373Asp)	IHH (G373D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018605	NM_002181.4(IHH):c.459C>A (p.Ile153=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015677	NM_002181.4(IHH):c.866G>A (p.Arg289His)	IHH (R289H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010614	NM_002181.4(IHH):c.315+17C>G	IHH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006505	NM_002181.4(IHH):c.164A>G (p.Asn55Ser)	IHH (N55S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987238	NM_002181.4(IHH):c.1081T>C (p.Phe361Leu)	IHH (F361L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987192	NM_002181.4(IHH):c.651T>A (p.Arg217=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985055	NM_002181.4(IHH):c.84C>T (p.Cys28=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985035	NM_002181.4(IHH):c.766G>A (p.Ala256Thr)	IHH (A256T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984368	NM_002181.4(IHH):c.1098C>G (p.Leu366=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982512	NM_002181.4(IHH):c.315+17C>T	IHH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891331	NM_002181.4(IHH):c.803G>A (p.Arg268His)	IHH (R268H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886879	NM_002181.4(IHH):c.876C>T (p.Ala292=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853436	NM_002181.4(IHH):c.2T>C (p.Met1Thr)	IHH (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2852595	NM_002181.4(IHH):c.24C>T (p.Pro8=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846342	NM_002181.4(IHH):c.2T>G (p.Met1Arg)	IHH (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2838258	NM_002181.4(IHH):c.963T>A (p.Ser321=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821742	NM_002181.4(IHH):c.399G>A (p.Trp133Ter)	IHH (W133*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2808828	NM_002181.4(IHH):c.496C>A (p.Leu166Met)	IHH (L166M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779276	NM_002181.4(IHH):c.408C>T (p.Asp136=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772702	NM_002181.4(IHH):c.931_937dup (p.Gln313fs)	IHH (Q313fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2770840	NM_002181.4(IHH):c.20G>A (p.Arg7Gln)	IHH (R7Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769569	NM_002181.4(IHH):c.512T>C (p.Val171Ala)	IHH (V171A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766566	NM_002181.4(IHH):c.542_556del (p.Glu181_His185del)	IHH	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2738245	NM_002181.4(IHH):c.540C>G (p.Tyr180Ter)	IHH (Y180*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2728209	NM_002181.4(IHH):c.643G>A (p.Gly215Arg)	IHH (G215R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2727288	NM_002181.4(IHH):c.877A>G (p.Thr293Ala)	IHH (T293A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711303	NM_002181.4(IHH):c.632G>A (p.Arg211His)	IHH (R211H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709739	NM_002181.4(IHH):c.915G>T (p.Leu305=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699120	NM_002181.4(IHH):c.434del (p.His145fs)	IHH (H145fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2697447	NM_002181.4(IHH):c.714dup (p.Thr239fs)	IHH (T239fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2696326	NM_002181.4(IHH):c.1217T>A (p.Met406Lys)	IHH (M406K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694094	NM_002181.4(IHH):c.604G>T (p.Gly202Cys)	IHH (G202C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2628674	NM_002181.4(IHH):c.37T>C (p.Cys13Arg)	IHH (C13R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2614241	NM_002181.4(IHH):c.1226C>T (p.Ala409Val)	IHH (A409V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
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 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 2504342	NM_002181.4(IHH):c.531G>A (p.Trp177Ter)	IHH (W177*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 2494028	NM_002181.4(IHH):c.1213G>A (p.Gly405Ser)	IHH (G405S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432837	NM_002181.4(IHH):c.577+2T>C	IHH	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2385329	NM_002181.4(IHH):c.128A>G (p.Lys43Arg)	IHH (K43R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360360	NM_002181.4(IHH):c.1158G>C (p.Gln386His)	IHH (Q386H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331986	NM_002181.4(IHH):c.937C>G (p.Gln313Glu)	IHH (Q313E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2319351	NM_002181.4(IHH):c.1127C>T (p.Thr376Ile)	IHH (T376I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285822	NM_002181.4(IHH):c.862G>T (p.Ala288Ser)	IHH (A288S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254322	NM_002181.4(IHH):c.1201T>C (p.Phe401Leu)	IHH (F401L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221391	NM_002181.4(IHH):c.215C>T (p.Ala72Val)	IHH (A72V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210386	NM_002181.4(IHH):c.941C>T (p.Pro314Leu)	IHH (P314L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205062	NM_002181.4(IHH):c.619G>A (p.Gly207Arg)	IHH (G207R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2203265	NM_002181.4(IHH):c.472C>T (p.Arg158Cys)	IHH (R158C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2202520	NM_002181.4(IHH):c.837G>A (p.Thr279=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2182010	NM_002181.4(IHH):c.1139G>A (p.Gly380Asp)	IHH (G380D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178408	NM_002181.4(IHH):c.648G>A (p.Ala216=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166441	NM_002181.4(IHH):c.134T>G (p.Val45Gly)	IHH (V45G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2151961	NM_002181.4(IHH):c.172G>A (p.Glu58Lys)	IHH (E58K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2135105	NM_002181.4(IHH):c.1038C>T (p.Ser346=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122293	NM_002181.4(IHH):c.482A>G (p.Asn161Ser)	IHH (N161S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119084	NM_002181.4(IHH):c.1039T>C (p.Cys347Arg)	IHH (C347R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092251	NM_002181.4(IHH):c.815C>A (p.Thr272Lys)	IHH (T272K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091897	NM_002181.4(IHH):c.503G>C (p.Arg168Pro)	IHH (R168P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091896	NM_002181.4(IHH):c.504_548del (p.Leu169_Lys183del)	IHH	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2086589	NM_002181.4(IHH):c.281A>G (p.Glu94Gly)	IHH (E94G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073873	NM_002181.4(IHH):c.1131G>A (p.Pro377=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071648	NM_002181.4(IHH):c.970G>A (p.Val324Met)	IHH (V324M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056107	NM_002181.4(IHH):c.200A>G (p.Tyr67Cys)	IHH (Y67C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048255	NM_002181.4(IHH):c.438T>C (p.Tyr146=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2016517	NM_002181.4(IHH):c.314A>G (p.Gln105Arg)	IHH (Q105R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007131	NM_002181.4(IHH):c.933C>A (p.Gly311=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1997818	NM_002181.4(IHH):c.104G>A (p.Gly35Asp)	IHH (G35D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984673	NM_002181.4(IHH):c.780C>T (p.Ile260=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982447	NM_002181.4(IHH):c.820G>A (p.Ala274Thr)	IHH (A274T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1980219	NM_002181.4(IHH):c.871C>T (p.Arg291Trp)	IHH (R291W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975052	NM_002181.4(IHH):c.105C>T (p.Gly35=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973766	NM_002181.4(IHH):c.1080C>T (p.Ala360=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970441	NM_002181.4(IHH):c.692C>T (p.Ala231Val)	IHH (A231V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949411	NM_002181.4(IHH):c.577+10C>G	IHH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947489	NM_002181.4(IHH):c.687G>A (p.Val229=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941725	NM_002181.4(IHH):c.444C>T (p.Gly148=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941399	NM_002181.4(IHH):c.213C>T (p.Ile71=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928145	NM_002181.4(IHH):c.577+15G>C	IHH	Single nucleotide variant (intron variant)	not provided	GLikely benign

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