ClinVar for Gene (Select 55250) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371337	NM_018255.4(ELP2):c.2189C>A (p.Pro730Gln)	ELP2 (P581Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365472	NM_018255.4(ELP2):c.523+588A>T	ELP2 (K163* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3364226	NM_018255.4(ELP2):c.2182G>A (p.Val728Ile)	ELP2 (V579I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364225	NM_018255.4(ELP2):c.1714T>C (p.Cys572Arg)	ELP2 (C423R +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360641	NM_018255.4(ELP2):c.1853C>T (p.Thr618Met)	ELP2 (T469M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3339533	NM_018255.4(ELP2):c.907C>T (p.Gln303Ter)	ELP2 (Q154* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 58	GPathogenic
Select item 3336513	NM_018255.4(ELP2):c.418C>T (p.Arg140Ter)	ELP2 (R140*)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, autosomal recessive 58	GPathogenic
Select item 3275244	NM_018255.4(ELP2):c.1141G>C (p.Glu381Gln)	ELP2 (E232Q +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3275243	NM_018255.4(ELP2):c.1373A>G (p.Glu458Gly)	ELP2 (E432G +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3275242	NM_018255.4(ELP2):c.62T>G (p.Val21Gly)	ELP2 (V21G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3275241	NM_018255.4(ELP2):c.179G>A (p.Arg60Gln)	ELP2 (R60Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3275240	NM_018255.4(ELP2):c.2098G>A (p.Asp700Asn)	ELP2 (D650N +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3275239	NM_018255.4(ELP2):c.35T>C (p.Phe12Ser)	ELP2 (F12S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3257438	NM_018255.4(ELP2):c.2205T>G (p.Ser735=)	ELP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3252777	NM_018255.4(ELP2):c.1402C>T (p.Arg468Trp)	ELP2 (R319W +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252554	NM_018255.4(ELP2):c.1262A>T (p.Lys421Ile)	ELP2 (K272I +7 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3252552	NM_018255.4(ELP2):c.794A>G (p.Glu265Gly)	ELP2 (E116G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3233516	NM_018255.4(ELP2):c.2472_2473del (p.Ala825fs)	ELP2 (A676fs +8 more)	Microsatellite (frameshift variant +1 more)	not specified	GUncertain significance
Select item 3088509	NM_018255.4(ELP2):c.548A>T (p.Asp183Val)	ELP2 (D157V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3088508	NM_018255.4(ELP2):c.523+613G>A	ELP2 (C197Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3088507	NM_018255.4(ELP2):c.335C>T (p.Ala112Val)	ELP2 (A112V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3088506	NM_018255.4(ELP2):c.2275C>G (p.Gln759Glu)	ELP2 (Q759E +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3088504	NM_018255.4(ELP2):c.2174C>G (p.Ala725Gly)	ELP2 (A675G +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3088503	NM_018255.4(ELP2):c.1949A>G (p.Glu650Gly)	ELP2 (E606G +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3088502	NM_018255.4(ELP2):c.1808C>T (p.Ser603Phe)	ELP2 (S553F +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3088501	NM_018255.4(ELP2):c.1517A>C (p.Asn506Thr)	ELP2 (N480T +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3088500	NM_018255.4(ELP2):c.1426G>A (p.Ala476Thr)	ELP2 (A327T +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3088499	NM_018255.4(ELP2):c.1247C>T (p.Ala416Val)	ELP2 (A481V +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3088498	NM_018255.4(ELP2):c.950T>C (p.Ile317Thr)	ELP2 (I247T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3088497	NM_018255.4(ELP2):c.10C>G (p.Pro4Ala)	ELP2 (P4A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3088496	NM_018255.4(ELP2):c.893A>G (p.Asp298Gly)	ELP2 (D228G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3088495	NM_018255.4(ELP2):c.827A>G (p.Glu276Gly)	ELP2 (E250G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067957	NM_018255.4(ELP2):c.1443_1458dup (p.Cys487fs)	ELP2 (C338fs +8 more)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal recessive 58	GLikely pathogenic
Select item 3065744	NM_018255.4(ELP2):c.2438A>T (p.Asp813Val)	ELP2 (D664V +8 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 58	GUncertain significance
Select item 3051931	NM_018255.4(ELP2):c.692G>A (p.Cys231Tyr)	ELP2 (C161Y +5 more)	Single nucleotide variant (missense variant +1 more)	ELP2-related disorder	GLikely benign
Select item 3049226	NM_018255.4(ELP2):c.1035T>C (p.Tyr345=)	ELP2	Single nucleotide variant (synonymous variant +2 more)	ELP2-related disorder	GLikely benign
Select item 3035545	NM_018255.4(ELP2):c.174C>T (p.Thr58=)	ELP2	Single nucleotide variant (synonymous variant +2 more)	ELP2-related disorder	GLikely benign
Select item 2685618	GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1	ASXL3, B4GALT6 +35 more	Copy number loss	not provided	GPathogenic
Select item 2648674	NM_018255.4(ELP2):c.1434A>G (p.Thr478=)	ELP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637310	NM_018255.4(ELP2):c.1972T>C (p.Phe658Leu)	ELP2 (F509L +8 more)	Single nucleotide variant (missense variant +1 more)	ELP2-related disorder	GUncertain significance
Select item 2635866	NM_018255.4(ELP2):c.523+574G>A	ELP2 (R158Q +1 more)	Single nucleotide variant (missense variant +1 more)	ELP2-related disorder	GUncertain significance
Select item 2634944	NM_018255.4(ELP2):c.1068C>G (p.Ile356Met)	ELP2 (I207M +5 more)	Single nucleotide variant (missense variant +2 more)	ELP2-related disorder	GUncertain significance
Select item 2633391	NM_018255.4(ELP2):c.2222C>T (p.Ala741Val)	ELP2 (A592V +8 more)	Single nucleotide variant (missense variant +1 more)	ELP2-related disorder	GUncertain significance
Select item 2614718	NM_018255.4(ELP2):c.2426G>C (p.Ser809Thr)	ELP2 (S660T +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609244	NM_018255.4(ELP2):c.1528T>C (p.Phe510Leu)	ELP2 (F440L +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2573075	NM_018255.4(ELP2):c.2237del (p.Cys746fs)	ELP2 (C597fs +8 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 58	GLikely pathogenic
Select item 2572299	NM_018255.4(ELP2):c.1700G>A (p.Gly567Asp)	ELP2 (G418D +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2572298	NM_018255.4(ELP2):c.1095G>A (p.Leu365=)	ELP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2571009	NM_018255.4(ELP2):c.1917A>G (p.Ser639=)	ELP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2569303	NM_018255.4(ELP2):c.829A>G (p.Thr277Ala)	ELP2 (T251A +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547735	NM_018255.4(ELP2):c.1852A>G (p.Thr618Ala)	ELP2 (T613A +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546003	NM_018255.4(ELP2):c.2066G>A (p.Arg689Gln)	ELP2 (R663Q +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540118	NM_018255.4(ELP2):c.1243T>C (p.Phe415Leu)	ELP2 (F371L +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2538760	NM_018255.4(ELP2):c.523+678G>A	ELP2 (E193K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532882	NM_018255.4(ELP2):c.397G>A (p.Ala133Thr)	ELP2 (A133T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2505101	NM_018255.4(ELP2):c.1544C>T (p.Ala515Val)	ELP2 (A366V +8 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 58	GUncertain significance
Select item 2498738	NM_018255.4(ELP2):c.523+681A>T	ELP2 (K194* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2490938	NM_018255.4(ELP2):c.1970T>G (p.Leu657Arg)	ELP2 (L652R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478677	NM_018255.4(ELP2):c.2299A>G (p.Thr767Ala)	ELP2 (T618A +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467592	NM_018255.4(ELP2):c.1229A>G (p.Gln410Arg)	ELP2 (Q261R +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2441215	NM_018255.4(ELP2):c.445G>T (p.Val149Leu)	ELP2 (G149C +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 58	GUncertain significance
Select item 2441214	NM_018255.4(ELP2):c.1923G>A (p.Trp641Ter)	ELP2 (W492* +8 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 58	GUncertain significance
Select item 2410324	NM_018255.4(ELP2):c.607C>T (p.Leu203Phe)	ELP2 (L177F +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2405786	NM_018255.4(ELP2):c.1726A>T (p.Asn576Tyr)	ELP2 (N427Y +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402422	NM_018255.4(ELP2):c.1741_1742del (p.Leu581fs)	ELP2 (L432fs +8 more)	Microsatellite (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2393189	NM_018255.4(ELP2):c.497G>A (p.Cys166Tyr)	ELP2 (C166Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2391742	NM_018255.4(ELP2):c.56G>A (p.Arg19Gln)	ELP2 (R19Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2390905	NM_018255.4(ELP2):c.1129G>A (p.Glu377Lys)	ELP2 (E307K +7 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2383806	NM_018255.4(ELP2):c.1535G>A (p.Gly512Glu)	ELP2 (G462E +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375550	NM_018255.4(ELP2):c.523+648G>A	ELP2 (A183T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373129	NM_018255.4(ELP2):c.212A>G (p.Asp71Gly)	ELP2 (D71G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2342811	NM_018255.4(ELP2):c.523+652C>T	ELP2 (S210F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305022	NM_018255.4(ELP2):c.656-3T>C	ELP2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2303111	NM_018255.4(ELP2):c.1688+3A>G	ELP2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2289590	NM_018255.4(ELP2):c.1691A>G (p.Tyr564Cys)	ELP2 (Y603C +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288027	NM_018255.4(ELP2):c.2206C>G (p.Gln736Glu)	ELP2 (Q587E +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284923	NM_018255.4(ELP2):c.1249C>T (p.Pro417Ser)	ELP2 (P482S +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2281195	NM_018255.4(ELP2):c.2155G>A (p.Val719Met)	ELP2 (V693M +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272614	NM_018255.4(ELP2):c.217+2dup	ELP2	Duplication (splice donor variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272295	NM_018255.4(ELP2):c.1009G>A (p.Val337Ile)	ELP2 (V311I +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2271348	NM_018255.4(ELP2):c.523+610T>C	ELP2 (L170P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266728	NM_018255.4(ELP2):c.1930C>G (p.Gln644Glu)	ELP2 (Q594E +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265294	NM_018255.4(ELP2):c.31G>C (p.Val11Leu)	ELP2 (V11L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2256967	NM_018255.4(ELP2):c.2295C>A (p.Asp765Glu)	ELP2 (D739E +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243548	NM_018255.4(ELP2):c.1661A>G (p.Asn554Ser)	ELP2 (N405S +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241967	NM_018255.4(ELP2):c.1778A>G (p.His593Arg)	ELP2 (H523R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240311	NM_018255.4(ELP2):c.2396C>G (p.Ala799Gly)	ELP2 (A773G +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230672	NM_018255.4(ELP2):c.419G>A (p.Arg140Gln)	ELP2 (R140Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2229541	NM_018255.4(ELP2):c.390C>G (p.Ile130Met)	ELP2 (I130M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2227758	NM_018255.4(ELP2):c.1403G>A (p.Arg468Gln)	ELP2 (R319Q +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226489	NM_018255.4(ELP2):c.26C>T (p.Ser9Phe)	ELP2 (S9F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2211110	NM_018255.4(ELP2):c.808G>A (p.Ala270Thr)	ELP2 (A335T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2205143	NM_018255.4(ELP2):c.1223C>T (p.Thr408Ile)	ELP2 (T403I +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1992333	NM_018255.4(ELP2):c.2084_2087del (p.Val695fs)	ELP2 (V625fs +8 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 58	GLikely pathogenic
Select item 1809317	GRCh37/hg19 18q12.2(chr18:33748335-34810178)x3	ELP2, FHOD3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807844	GRCh37/hg19 18q12.2(chr18:33748335-34813244)x3	ELP2, FHOD3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1340815	GRCh37/hg19 18q12.2(chr18:33748334-34810178)x3	ELP2, FHOD3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340677	GRCh37/hg19 18q12.2(chr18:33571456-34552945)x1	MOCOS, ELP2 +5 more	Copy number loss	not provided	GUncertain significance

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