IHH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
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 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 334424	NM_002181.3(IHH):c.*785C>T	IHH	Single nucleotide variant	Brachydactyly type A1	GBenign
Select item 334425	NM_002181.4(IHH):c.*623dup	IHH	Duplication (3 prime UTR variant)	Brachydactyly	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 895157	NM_002181.4(IHH):c.*423G>A	IHH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
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 895158	NM_002181.4(IHH):c.*368G>A	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 895160	NM_002181.4(IHH):c.*300T>C	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1	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 334427	NM_002181.4(IHH):c.*248C>A	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1	GBenign
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 896578	NM_002181.4(IHH):c.*217G>A	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1	GUncertain significance
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 334429	NM_002181.4(IHH):c.*175C>G	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 896579	NM_002181.4(IHH):c.*33G>A	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1	GUncertain significance
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 334432	NM_002181.4(IHH):c.*13G>A	IHH	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type A1	GBenign
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 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 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 2696326	NM_002181.4(IHH):c.1217T>A (p.Met406Lys)	IHH (M406K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2254322	NM_002181.4(IHH):c.1201T>C (p.Phe401Leu)	IHH (F401L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 592980	NM_002181.4(IHH):c.1194G>C (p.Glu398Asp)	IHH (E398D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 1406109	NM_002181.4(IHH):c.1168C>T (p.Arg390Cys)	IHH (R390C)	Single nucleotide variant (missense variant)	not provided	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 1308429	NM_002181.4(IHH):c.1151A>G (p.Tyr384Cys)	IHH (Y384C)	Single nucleotide variant (missense 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 2073873	NM_002181.4(IHH):c.1131G>A (p.Pro377=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 769266	NM_002181.4(IHH):c.1128= (p.Thr376=)	IHH	Variation (no sequence alteration)	not provided	GBenign
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 2319351	NM_002181.4(IHH):c.1127C>T (p.Thr376Ile)	IHH (T376I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 334433	NM_002181.4(IHH):c.1101T>C (p.Phe367=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1	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 1464017	NM_002181.4(IHH):c.1094G>A (p.Arg365Lys)	IHH (R365K)	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 2987238	NM_002181.4(IHH):c.1081T>C (p.Phe361Leu)	IHH (F361L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973766	NM_002181.4(IHH):c.1080C>T (p.Ala360=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 290782	NM_002181.4(IHH):c.1051G>A (p.Val351Met)	IHH (V351M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1477732	NM_002181.4(IHH):c.1046C>T (p.Ala349Val)	IHH (A349V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1364601	NM_002181.4(IHH):c.1045G>A (p.Ala349Thr)	IHH (A349T)	Single nucleotide variant (missense variant)	not provided +1 more	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 2135105	NM_002181.4(IHH):c.1038C>T (p.Ser346=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1014177	NM_002181.4(IHH):c.1012C>G (p.Leu338Val)	IHH (L338V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466954	NM_002181.4(IHH):c.992C>T (p.Pro331Leu)	IHH (P331L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1129022	NM_002181.4(IHH):c.987C>T (p.Tyr329=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 598077	NM_002181.4(IHH):c.982del (p.Ala328fs)	IHH (A328fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 334434	NM_002181.4(IHH):c.969C>T (p.His323=)	IHH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2838258	NM_002181.4(IHH):c.963T>A (p.Ser321=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1141847	NM_002181.4(IHH):c.948C>T (p.Arg316=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1464244	NM_002181.4(IHH):c.947G>A (p.Arg316His)	IHH (R316H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1007931	NM_002181.4(IHH):c.947G>C (p.Arg316Pro)	IHH (R316P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437971	NM_002181.4(IHH):c.946C>T (p.Arg316Cys)	IHH (R316C)	Single nucleotide variant (missense variant)	not provided	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 2772702	NM_002181.4(IHH):c.931_937dup (p.Gln313fs)	IHH (Q313fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 1152231	NM_002181.4(IHH):c.936G>T (p.Leu312=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007131	NM_002181.4(IHH):c.933C>A (p.Gly311=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1368511	NM_002181.4(IHH):c.923G>T (p.Gly308Val)	IHH (G308V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2709739	NM_002181.4(IHH):c.915G>T (p.Leu305=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1014812	NM_002181.4(IHH):c.910G>A (p.Val304Met)	IHH (V304M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 899310	NM_002181.4(IHH):c.909C>T (p.Tyr303=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1	GBenign
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 2886879	NM_002181.4(IHH):c.876C>T (p.Ala292=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1980219	NM_002181.4(IHH):c.871C>T (p.Arg291Trp)	IHH (R291W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2285822	NM_002181.4(IHH):c.862G>T (p.Ala288Ser)	IHH (A288S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1570916	NM_002181.4(IHH):c.858G>C (p.Pro286=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 287743	NM_002181.4(IHH):c.858G>A (p.Pro286=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1 +2 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 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 899311	NM_002181.4(IHH):c.849C>T (p.His283=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1	GUncertain significance
Select item 2202520	NM_002181.4(IHH):c.837G>A (p.Thr279=)	IHH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1206307	NM_002181.4(IHH):c.836C>T (p.Thr279Met)	IHH (T279M)	Single nucleotide variant (missense variant)	IHH-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1205992	NM_002181.4(IHH):c.829C>T (p.Leu277Phe)	IHH (L277F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 899312	NM_002181.4(IHH):c.816A>G (p.Thr272=)	IHH	Single nucleotide variant (synonymous variant)	Brachydactyly type A1	GBenign
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 1358745	NM_002181.4(IHH):c.809C>T (p.Ala270Val)	IHH (A270V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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