ELOVL5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 147999	GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4	CILK1, EFHC1 +119 more	Copy number gain	See cases	GPathogenic
Select item 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	GUncertain significance
Select item 1343009	NM_021814.5(ELOVL5):c.*77A>G	ELOVL5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1704595	NM_021814.5(ELOVL5):c.889_890dup (p.Lys298fs)	ELOVL5 (E256fs +2 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 2070080	NM_021814.5(ELOVL5):c.871G>A (p.Val291Met)	ELOVL5 (V291M +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1316416	NM_021814.5(ELOVL5):c.861G>T (p.Leu287=)	ELOVL5 (G246*)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign/Likely benign
Select item 916283	NM_021814.5(ELOVL5):c.860del (p.Leu287fs)	ELOVL5 (G246fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2619503	NM_021814.5(ELOVL5):c.856C>A (p.Pro286Thr)	ELOVL5 (P286T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1899871	NM_021814.5(ELOVL5):c.842C>T (p.Thr281Ile)	ELOVL5 (T281I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1930496	NM_021814.5(ELOVL5):c.805C>T (p.His269Tyr)	ELOVL5 (P227L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937419	NM_021814.5(ELOVL5):c.803A>G (p.Asp268Gly)	ELOVL5 (D295G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 985684	NM_021814.5(ELOVL5):c.790G>A (p.Asp264Asn)	ELOVL5 (D264N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2176382	NM_021814.5(ELOVL5):c.782G>A (p.Arg261Gln)	ELOVL5 (R261Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2715809	NM_021814.5(ELOVL5):c.780C>T (p.Ser260=)	ELOVL5 (P219S)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2233418	NM_021814.5(ELOVL5):c.779C>T (p.Ser260Phe)	ELOVL5 (S260F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1990405	NM_021814.5(ELOVL5):c.771A>G (p.Lys257=)	ELOVL5 (R216G)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 218139	NM_021814.5(ELOVL5):c.757-40_757-37dup	ELOVL5	Duplication (intron variant)	not provided	GBenign
Select item 1248305	NM_021814.5(ELOVL5):c.757-97_757-96insAAAAG	ELOVL5	Insertion (intron variant)	not provided	GBenign
Select item 1321663	NM_021814.5(ELOVL5):c.757-181dup	ELOVL5	Duplication (intron variant)	not provided	GLikely benign
Select item 1293375	NM_021814.5(ELOVL5):c.757-233T>C	ELOVL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2695983	NM_021814.5(ELOVL5):c.756+2T>C	ELOVL5	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2576184	NM_021814.5(ELOVL5):c.702C>A (p.Phe234Leu)	ELOVL5 (F234L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 210935	NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys)	ELOVL5 (Y233C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2441211	NM_021814.5(ELOVL5):c.694T>C (p.Leu232=)	ELOVL5 (V190A)	Single nucleotide variant (synonymous variant +1 more)	Spinocerebellar ataxia type 38	GUncertain significance
Select item 1705602	NM_021814.5(ELOVL5):c.692G>T (p.Trp231Leu)	ELOVL5 (L189F +2 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 38	GUncertain significance
Select item 144075	NM_021814.5(ELOVL5):c.689G>T (p.Gly230Val)	ELOVL5 (G230V +2 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 38	GPathogenic
Select item 2895741	NM_021814.5(ELOVL5):c.672G>A (p.Pro224=)	ELOVL5 (V183M)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2905253	NM_021814.5(ELOVL5):c.670C>T (p.Pro224Ser)	ELOVL5 (A182V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030885	NM_021814.5(ELOVL5):c.663C>T (p.Val221=)	ELOVL5 (H180Y)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2805038	NM_021814.5(ELOVL5):c.658G>A (p.Gly220Arg)	ELOVL5 (G220R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907574	NM_021814.5(ELOVL5):c.640A>G (p.Ile214Val)	ELOVL5 (N172S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1344981	NM_021814.5(ELOVL5):c.622-12C>T	ELOVL5	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1282019	NM_021814.5(ELOVL5):c.621+299_621+308del	ELOVL5	Deletion (intron variant)	not provided	GBenign
Select item 2104396	NM_021814.5(ELOVL5):c.602A>G (p.Tyr201Cys)	ELOVL5 (Y201C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2016003	NM_021814.5(ELOVL5):c.586C>G (p.Leu196Val)	ELOVL5 (L196V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2594182	NM_021814.5(ELOVL5):c.578G>A (p.Arg193His)	ELOVL5 (R220H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 931695	NM_021814.5(ELOVL5):c.577C>T (p.Arg193Cys)	ELOVL5 (R193C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3088479	NM_021814.5(ELOVL5):c.568C>T (p.Pro190Ser)	ELOVL5 (P217S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2959899	NM_021814.5(ELOVL5):c.565G>C (p.Val189Leu)	ELOVL5 (V189L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2054046	NM_021814.5(ELOVL5):c.551A>G (p.Tyr184Cys)	ELOVL5 (Y184C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2835705	NM_021814.5(ELOVL5):c.539T>G (p.Met180Arg)	ELOVL5 (M207R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1050286	NM_021814.5(ELOVL5):c.536T>G (p.Leu179Arg)	ELOVL5 (L179R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2548018	NM_021814.5(ELOVL5):c.533T>C (p.Val178Ala)	ELOVL5 (V205A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2715696	NM_021814.5(ELOVL5):c.532G>A (p.Val178Ile)	ELOVL5 (V178I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2069144	NM_021814.5(ELOVL5):c.531C>T (p.His177=)	ELOVL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1321626	NM_021814.5(ELOVL5):c.497-63_497-62del	ELOVL5	Deletion (intron variant)	not provided	GLikely benign
Select item 1221576	NM_021814.5(ELOVL5):c.497-62del	ELOVL5	Deletion (intron variant)	not provided	GBenign
Select item 1258670	NM_021814.5(ELOVL5):c.497-118C>T	ELOVL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706184	NM_021814.5(ELOVL5):c.496+84T>G	ELOVL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912773	NM_021814.5(ELOVL5):c.496+15C>T	ELOVL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893086	NM_021814.5(ELOVL5):c.496+8T>C	ELOVL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298314	NM_021814.5(ELOVL5):c.490G>A (p.Gly164Ser)	ELOVL5 (G164S +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 38	GUncertain significance
Select item 2389059	NM_021814.5(ELOVL5):c.472A>T (p.Met158Leu)	ELOVL5 (M158L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2080635	NM_021814.5(ELOVL5):c.430G>A (p.Val144Ile)	ELOVL5 (V171I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708719	NM_021814.5(ELOVL5):c.420G>A (p.Thr140=)	ELOVL5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2174192	NM_021814.5(ELOVL5):c.382T>C (p.Phe128Leu)	ELOVL5 (F128L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1899430	NM_021814.5(ELOVL5):c.361C>T (p.Leu121Phe)	ELOVL5 (L121F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984798	NM_021814.5(ELOVL5):c.351C>T (p.Tyr117=)	ELOVL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2320380	NM_021814.5(ELOVL5):c.334G>A (p.Val112Ile)	ELOVL5 (V112I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441212	NM_021814.5(ELOVL5):c.332G>A (p.Arg111His)	ELOVL5 (R111H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1916304	NM_021814.5(ELOVL5):c.331C>T (p.Arg111Cys)	ELOVL5 (R111C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991220	NM_021814.5(ELOVL5):c.325A>C (p.Ile109Leu)	ELOVL5 (I109L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022329	NM_021814.5(ELOVL5):c.325-5C>T	ELOVL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899645	NM_021814.5(ELOVL5):c.325-13C>T	ELOVL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269783	NM_021814.5(ELOVL5):c.325-102C>T	ELOVL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257447	NM_021814.5(ELOVL5):c.324+217C>T	ELOVL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289470	NM_021814.5(ELOVL5):c.324+49A>T	ELOVL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706227	NM_021814.5(ELOVL5):c.324+25TAT[4]	ELOVL5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1707374	NM_021814.5(ELOVL5):c.324+32A>G	ELOVL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988188	NM_021814.5(ELOVL5):c.324+12T>C	ELOVL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2861287	NM_021814.5(ELOVL5):c.320T>A (p.Met107Lys)	ELOVL5 (M107K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062593	NM_021814.5(ELOVL5):c.319A>G (p.Met107Val)	ELOVL5 (M107V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3088478	NM_021814.5(ELOVL5):c.310G>A (p.Glu104Lys)	ELOVL5 (E131K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2802536	NM_021814.5(ELOVL5):c.310G>C (p.Glu104Gln)	ELOVL5 (E104Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2392461	NM_021814.5(ELOVL5):c.304G>T (p.Ala102Ser)	ELOVL5 (A129S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1916106	NM_021814.5(ELOVL5):c.303C>T (p.Thr101=)	ELOVL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956737	NM_021814.5(ELOVL5):c.247-12C>G	ELOVL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023343	NM_021814.5(ELOVL5):c.247-15_247-14delinsGC	ELOVL5	Indel (intron variant)	not provided	GUncertain significance
Select item 1919457	NM_021814.5(ELOVL5):c.247-19G>T	ELOVL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851713	NM_021814.5(ELOVL5):c.247-20G>A	ELOVL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285668	NM_021814.5(ELOVL5):c.247-150T>G	ELOVL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321793	NM_021814.5(ELOVL5):c.246+4089C>T	ELOVL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239255	NM_021814.5(ELOVL5):c.246+3932C>T	ELOVL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 691282	NM_021814.5(ELOVL5):c.246+3891C>T	ELOVL5 (Q102*)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign/Likely benign
Select item 2656647	NM_021814.5(ELOVL5):c.246+3865G>T	ELOVL5 (C93F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1707196	NM_021814.5(ELOVL5):c.246+3863C>G	ELOVL5	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1806222	NM_021814.5(ELOVL5):c.246+3859C>G	ELOVL5 (S91C)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 38	GUncertain significance
Select item 3088477	NM_021814.5(ELOVL5):c.246+3853G>A	ELOVL5 (R89H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1293370	NM_021814.5(ELOVL5):c.246+3816T>C	ELOVL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248389	NM_021814.5(ELOVL5):c.246+3729A>C	ELOVL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249097	NM_021814.5(ELOVL5):c.246+110T>G	ELOVL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 984690	NM_021814.5(ELOVL5):c.235A>T (p.Met79Leu)	ELOVL5 (M79L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 38	GUncertain significance
Select item 144076	NM_021814.5(ELOVL5):c.214C>G (p.Leu72Val)	ELOVL5 (L72V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 38	GPathogenic
Select item 2656648	NM_021814.5(ELOVL5):c.190A>T (p.Ile64Phe)	ELOVL5 (I64F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016908	NM_021814.5(ELOVL5):c.185G>A (p.Arg62Gln)	ELOVL5 (R62Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2220491	NM_021814.5(ELOVL5):c.184C>T (p.Arg62Trp)	ELOVL5 (R62W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250028	NM_021814.5(ELOVL5):c.157A>G (p.Met53Val)	ELOVL5 (M53V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2144794	NM_021814.5(ELOVL5):c.149C>A (p.Pro50Gln)	ELOVL5 (P50Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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