ELP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 57135	GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3	ASXL3, B4GALT6 +146 more	Copy number gain	See cases	GPathogenic
Select item 59958	GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1	ASXL3, C18orf21 +129 more	Copy number loss	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 149244	GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1	ASXL3, C18orf21 +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 59959	GRCh38/hg38 18q12.1-12.3(chr18:34047118-41394354)x1	LOC110120900, LOC110120940 +99 more	Copy number loss	See cases	GPathogenic
Select item 58779	GRCh38/hg38 18q12.1-12.2(chr18:35097761-39379288)x3	C18orf21, CELF4 +75 more	Copy number gain	See cases	GPathogenic
Select item 154263	GRCh38/hg38 18q12.2(chr18:35990843-36963685)x1	COSMOC, ELP2 +23 more	Copy number loss	See cases	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 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 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 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 2391742	NM_018255.4(ELP2):c.56G>A (p.Arg19Gln)	ELP2 (R19Q)	Single nucleotide variant (missense variant +2 more)	ELP2-related disorder +2 more	GConflicting classifications of pathogenicity
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 761471	NM_018255.4(ELP2):c.135C>G (p.Pro45=)	ELP2	Single nucleotide variant (synonymous variant +2 more)	not provided	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 1033375	NM_018255.4(ELP2):c.178C>T (p.Arg60Ter)	ELP2 (R60*)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, autosomal recessive 58 +1 more	GConflicting classifications of pathogenicity
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 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 2272614	NM_018255.4(ELP2):c.217+2dup	ELP2	Duplication (splice donor variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 710518	NM_018255.4(ELP2):c.224C>G (p.Ser75Cys)	ELP2 (S75C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1012186	NM_018255.4(ELP2):c.293dup (p.Leu98fs)	ELP2 (L98fs)	Duplication (frameshift variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 745201	NM_018255.4(ELP2):c.375A>C (p.Ala125=)	ELP2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
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 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 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 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 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 1339828	NM_018255.4(ELP2):c.454C>A (p.Leu152Ile)	ELP2 (L152I +1 more)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
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 780172	NM_018255.4(ELP2):c.523+537G>A	ELP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733510	NM_018255.4(ELP2):c.523+540T>G	ELP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 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 798940	NM_018255.4(ELP2):c.523+689C>T	ELP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 784750	NM_018255.4(ELP2):c.523+720C>T	ELP2 (L207F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1012433	NM_018255.4(ELP2):c.524-3C>G	ELP2	Single nucleotide variant (intron variant)	not provided	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 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 225008	NM_018255.4(ELP2):c.617A>G (p.His206Arg)	ELP2 (H271R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2305022	NM_018255.4(ELP2):c.656-3T>C	ELP2	Single nucleotide variant (intron variant)	Inborn genetic diseases	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 791507	NM_018255.4(ELP2):c.788A>G (p.Glu263Gly)	ELP2 (E114G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
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 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 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 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 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 1033373	NM_018255.4(ELP2):c.918A>T (p.Arg306Ser)	ELP2 (R306S +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 58	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 793536	NM_018255.4(ELP2):c.987A>G (p.Leu329=)	ELP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 2572298	NM_018255.4(ELP2):c.1095G>A (p.Leu365=)	ELP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 777290	NM_018255.4(ELP2):c.1116A>T (p.Thr372=)	ELP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 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 1012185	NM_018255.4(ELP2):c.1214C>T (p.Thr405Ile)	ELP2 (T256I +7 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, profound	GLikely pathogenic
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 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 1030307	NM_018255.4(ELP2):c.1239A>C (p.Arg413Ser)	ELP2 (R408S +7 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 58	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 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 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 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 735485	NM_018255.4(ELP2):c.1316A>G (p.Tyr439Cys)	ELP2 (Y389C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1033374	NM_018255.4(ELP2):c.1321C>G (p.Leu441Val)	ELP2 (L292V +8 more)	Single nucleotide variant (missense variant +1 more)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GUncertain significance
Select item 1012183	NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser)	ELP2 (L295S +8 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 58 +2 more	GConflicting classifications of pathogenicity
Select item 773599	NM_018255.4(ELP2):c.1337T>C (p.Met446Thr)	ELP2 (M376T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 721087	NM_018255.4(ELP2):c.1359A>G (p.Val453=)	ELP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1030308	NM_018255.4(ELP2):c.1381C>A (p.Leu461Ile)	ELP2 (L411I +8 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 58	GUncertain significance
Select item 225038	NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp)	ELP2 (R527W +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 870396	NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln)	ELP2 (R313Q +8 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 58 +1 more	GPathogenic/Likely pathogenic
Select item 374912	NM_018255.4(ELP2):c.1385G>T (p.Arg462Leu)	ELP2 (R462L +8 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 58	GPathogenic
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 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 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 2648674	NM_018255.4(ELP2):c.1434A>G (p.Thr478=)	ELP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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

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