ClinVar for Gene (Select 26228) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062753	GRCh37/hg19 4q13.1-13.2(chr4:65646937-68662306)x3	CENPC, EPHA5 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3046099	NM_012108.4(STAP1):c.5T>C (p.Met2Thr)	STAP1 (M2T)	Single nucleotide variant (missense variant)	STAP1-related condition	GBenign
Select item 3030953	NM_012108.4(STAP1):c.-3G>T	STAP1	Single nucleotide variant (5 prime UTR variant)	STAP1-related condition	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685970	GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3	AMBN, AMTN +38 more	Copy number gain	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 2635834	NM_012108.4(STAP1):c.862T>G (p.Leu288Val)	STAP1 (L288V)	Single nucleotide variant (missense variant)	STAP1-related condition	GUncertain significance
Select item 2625613	NM_012108.4(STAP1):c.455C>T (p.Thr152Ile)	STAP1 (T152I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2625612	NM_012108.4(STAP1):c.630C>A (p.Asn210Lys)	STAP1 (N210K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620985	NM_012108.4(STAP1):c.262G>A (p.Ala88Thr)	LOC123477751, STAP1 (A88T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2563495	NM_012108.4(STAP1):c.287A>T (p.Lys96Ile)	LOC123477751, STAP1 (K96I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2563494	NM_012108.4(STAP1):c.481G>A (p.Glu161Lys)	STAP1 (E161K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2563493	NM_012108.4(STAP1):c.614G>A (p.Gly205Asp)	STAP1 (G205D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2563491	NM_012108.4(STAP1):c.171T>C (p.Tyr57=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2563490	NM_012108.4(STAP1):c.215T>C (p.Val72Ala)	LOC123477751, STAP1 (V72A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2563489	NM_012108.4(STAP1):c.263C>T (p.Ala88Val)	LOC123477751, STAP1 (A88V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561650	NM_012108.4(STAP1):c.14A>G (p.Lys5Arg)	STAP1 (K5R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555086	NM_012108.4(STAP1):c.790T>G (p.Leu264Val)	STAP1 (L264V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545333	NM_012108.4(STAP1):c.19C>A (p.Pro7Thr)	STAP1 (P7T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497041	NM_012108.4(STAP1):c.453G>C (p.Glu151Asp)	STAP1 (E151D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497040	NM_012108.4(STAP1):c.118C>T (p.Arg40Trp)	STAP1 (R40W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497039	NM_012108.4(STAP1):c.709A>G (p.Thr237Ala)	STAP1 (T237A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470271	NM_012108.4(STAP1):c.784G>A (p.Gly262Arg)	STAP1 (G262R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2448577	NM_012108.4(STAP1):c.173C>T (p.Thr58Ile)	STAP1 (T58I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2448576	NM_012108.4(STAP1):c.549C>A (p.Ser183=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2448575	NM_012108.4(STAP1):c.184A>T (p.Ser62Cys)	STAP1 (S62C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2448574	NM_012108.4(STAP1):c.883G>A (p.Ala295Thr)	STAP1 (A295T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2448573	NM_012108.4(STAP1):c.221T>C (p.Leu74Pro)	LOC123477751, STAP1 (L74P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2448572	NM_012108.4(STAP1):c.681C>T (p.Tyr227=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2448570	NM_012108.4(STAP1):c.440A>G (p.Lys147Arg)	STAP1 (K147R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2448569	NM_012108.4(STAP1):c.302T>C (p.Leu101Pro)	LOC123477751, STAP1 (L101P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2448568	NM_012108.4(STAP1):c.145T>C (p.Leu49=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2338414	NM_012108.4(STAP1):c.782G>A (p.Arg261Gln)	STAP1 (R261Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274704	NM_012108.4(STAP1):c.226T>C (p.Cys76Arg)	STAP1, LOC123477751 (C76R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249360	NM_012108.4(STAP1):c.298C>G (p.Gln100Glu)	LOC123477751, STAP1 (Q100E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211739	NM_012108.4(STAP1):c.587C>G (p.Ser196Cys)	STAP1 (S196C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808115	GRCh37/hg19 4q13.1-13.2(chr4:66215872-68647080)x1	CENPC, EPHA5 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1807937	GRCh37/hg19 4q13.2(chr4:67729321-68949586)x3	CENPC, GNRHR +5 more	Copy number gain	not provided	GUncertain significance
Select item 1798368	NM_012108.4(STAP1):c.297A>G (p.Val99=)	LOC123477751, STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1797686	NM_012108.4(STAP1):c.291G>A (p.Glu97=)	LOC123477751, STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1797261	NM_012108.4(STAP1):c.288A>G (p.Lys96=)	LOC123477751, STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1791883	NM_012108.4(STAP1):c.247A>G (p.Thr83Ala)	LOC123477751, STAP1 (T83A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1789220	NM_012108.4(STAP1):c.229C>A (p.Leu77Ile)	LOC123477751, STAP1 (L77I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1785715	NM_012108.4(STAP1):c.208G>A (p.Asp70Asn)	LOC123477751, STAP1 (D70N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1784865	NM_012108.4(STAP1):c.203A>G (p.Lys68Arg)	LOC123477751, STAP1 (K68R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1782948	NM_012108.4(STAP1):c.106C>T (p.Arg36Trp)	STAP1 (R36W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1781670	NM_012108.4(STAP1):c.186T>C (p.Ser62=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1780908	NM_012108.4(STAP1):c.182A>G (p.Lys61Arg)	STAP1 (K61R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1779362	NM_012108.4(STAP1):c.174C>T (p.Thr58=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1776111	NM_012108.4(STAP1):c.159T>A (p.Thr53=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1775882	NM_012108.4(STAP1):c.158C>T (p.Thr53Ile)	STAP1 (T53I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1772903	NM_012108.4(STAP1):c.144G>A (p.Glu48=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1767574	NM_012108.4(STAP1):c.127G>A (p.Glu43Lys)	STAP1 (E43K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1761762	NM_012108.4(STAP1):c.803T>C (p.Ile268Thr)	STAP1 (I268T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1758642	NM_012108.4(STAP1):c.738C>T (p.Leu246=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1757798	NM_012108.4(STAP1):c.722A>T (p.Glu241Val)	STAP1 (E241V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1757078	NM_012108.4(STAP1):c.708C>T (p.Tyr236=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1757033	NM_012108.4(STAP1):c.707A>T (p.Tyr236Phe)	STAP1 (Y236F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1756290	NM_012108.4(STAP1):c.694G>C (p.Val232Leu)	STAP1 (V232L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1756239	NM_012108.4(STAP1):c.693C>T (p.Ser231=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1755115	NM_012108.4(STAP1):c.672C>A (p.Ile224=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1754152	NM_012108.4(STAP1):c.654G>C (p.Glu218Asp)	STAP1 (E218D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1753152	NM_012108.4(STAP1):c.637A>G (p.Ile213Val)	STAP1 (I213V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1752273	NM_012108.4(STAP1):c.621C>T (p.Asp207=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1749877	NM_012108.4(STAP1):c.581A>G (p.Asn194Ser)	STAP1 (N194S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1747373	NM_012108.4(STAP1):c.540T>C (p.Tyr180=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1746888	NM_012108.4(STAP1):c.119G>A (p.Arg40Gln)	STAP1 (R40Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1746089	NM_012108.4(STAP1):c.520C>T (p.Pro174Ser)	STAP1 (P174S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1745471	NM_012108.4(STAP1):c.511G>T (p.Val171Leu)	STAP1 (V171L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1745332	NM_012108.4(STAP1):c.50A>G (p.Glu17Gly)	STAP1 (E17G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1743698	NM_012108.4(STAP1):c.486G>A (p.Lys162=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1742644	NM_012108.4(STAP1):c.471C>T (p.Ser157=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1742384	NM_012108.4(STAP1):c.467C>T (p.Thr156Met)	STAP1 (T156M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1741771	NM_012108.4(STAP1):c.459G>A (p.Glu153=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1741113	NM_012108.4(STAP1):c.450T>A (p.Ile150=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1739518	NM_012108.4(STAP1):c.42C>A (p.Ile14=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1738964	NM_012108.4(STAP1):c.423C>G (p.Val141=)	STAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1732784	NM_012108.4(STAP1):c.356T>C (p.Val119Ala)	STAP1 (V119A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1732043	NM_012108.4(STAP1):c.34C>G (p.Arg12Gly)	STAP1 (R12G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1730881	NM_012108.4(STAP1):c.113G>C (p.Gly38Ala)	STAP1 (G38A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527092	GRCh37/hg19 4q13.2(chr4:68272006-68923410)	CENPC, GNRHR +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527091	GRCh37/hg19 4q13.2(chr4:67997060-69198391)	CENPC, GNRHR +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1291928	NM_012108.4(STAP1):c.530+245T>G	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287964	NM_012108.4(STAP1):c.381C>T (p.Asn127=)	STAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1284814	NM_012108.4(STAP1):c.68C>T (p.Ala23Val)	STAP1 (A23V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1269598	NM_012108.4(STAP1):c.192+260T>G	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267418	NM_012108.4(STAP1):c.730-170G>A	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264463	NM_012108.4(STAP1):c.192+10T>C	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262529	NM_012108.4(STAP1):c.530+60A>G	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257893	NM_012108.4(STAP1):c.730-41G>C	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243836	NM_012108.4(STAP1):c.354A>G (p.Thr118=)	STAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1242618	NM_012108.4(STAP1):c.307-167C>T	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241285	NM_012108.4(STAP1):c.193-12T>C	LOC123477751, STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233741	NM_012108.4(STAP1):c.121-226T>C	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231894	NM_012108.4(STAP1):c.530+11A>G	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221906	NM_012108.4(STAP1):c.120+6T>C	STAP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1221491	NM_012108.4(STAP1):c.193-170G>C	STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216388	NM_012108.4(STAP1):c.364-263G>A	STAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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