ClinVar for Gene (Select 60528) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4528271	NM_018127.7(ELAC2):c.-2G>T	ELAC2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 4417662	NM_018127.7(ELAC2):c.246-1G>T	ELAC2	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4417661	NM_018127.7(ELAC2):c.295A>G (p.Lys99Glu)	ELAC2 (K99E)	Single nucleotide variant (missense variant)	Not Specified
Select item 4417660	NM_018127.7(ELAC2):c.301A>T (p.Lys101Ter)	ELAC2 (K101*)	Single nucleotide variant (nonsense)	Not Specified
Select item 4417659	NM_018127.7(ELAC2):c.432+4A>G	ELAC2	Single nucleotide variant (intron variant)	Not Specified
Select item 4417658	NM_018127.7(ELAC2):c.432+79A>G	ELAC2	Single nucleotide variant (intron variant)	Not Specified
Select item 4417657	NM_018127.7(ELAC2):c.433-1G>C	ELAC2	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4417656	NM_018127.7(ELAC2):c.491-36A>G	ELAC2	Single nucleotide variant (intron variant)	Not Specified
Select item 4417655	NM_018127.7(ELAC2):c.679+2T>C	ELAC2	Single nucleotide variant (intron variant +1 more)	Not Specified
Select item 4417654	NM_018127.7(ELAC2):c.679+4A>G	ELAC2	Single nucleotide variant (intron variant)	Not Specified
Select item 4417653	NM_018127.7(ELAC2):c.680-216G>T	ELAC2	Single nucleotide variant (intron variant)	Not Specified
Select item 4417652	NM_018127.7(ELAC2):c.680-1G>A	ELAC2	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4417650	NM_018127.7(ELAC2):c.739-5T>G	ELAC2	Single nucleotide variant (intron variant)	Not Specified
Select item 4417649	NM_018127.7(ELAC2):c.797+3G>C	ELAC2	Single nucleotide variant (intron variant)	Not Specified
Select item 4417648	NM_018127.7(ELAC2):c.870+245C>A	ELAC2	Single nucleotide variant (intron variant)	Not Specified
Select item 4417647	NM_018127.7(ELAC2):c.924G>T (p.Val308=)	ELAC2	Single nucleotide variant (synonymous variant)	Not Specified
Select item 4417646	NM_018127.7(ELAC2):c.984-12T>A	ELAC2	Single nucleotide variant (intron variant)	Not Specified
Select item 4417645	NM_018127.7(ELAC2):c.1219-1G>A	ELAC2	Single nucleotide variant (splice acceptor variant +1 more)	Not Specified
Select item 4417644	NM_018127.7(ELAC2):c.1242G>T (p.Val414=)	ELAC2	Single nucleotide variant (synonymous variant)	Not Specified
Select item 4417643	NM_018127.7(ELAC2):c.1283G>T (p.Arg428Leu)	ELAC2 (R388L +2 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4417642	NM_018127.7(ELAC2):c.1295A>T (p.Glu432Val)	ELAC2 (E431V +2 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4417640	NM_018127.7(ELAC2):c.1305-8T>A	ELAC2	Single nucleotide variant (intron variant)	Not Specified
Select item 4417639	NM_018127.7(ELAC2):c.1424-1G>A	ELAC2	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4417638	NM_018127.7(ELAC2):c.1432A>G (p.Ser478Gly)	ELAC2 (S477G +2 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4417637	NM_018127.7(ELAC2):c.1659+138T>G	ELAC2	Single nucleotide variant (intron variant)	Not Specified
Select item 4417636	NM_018127.7(ELAC2):c.1660-2A>C	ELAC2	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4417635	NM_018127.7(ELAC2):c.1698+2T>C	ELAC2	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4417633	NM_018127.7(ELAC2):c.1909-7C>G	ELAC2	Single nucleotide variant (intron variant)	Not Specified
Select item 4417632	NM_018127.7(ELAC2):c.2030-1G>T	ELAC2	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4417631	NM_018127.7(ELAC2):c.2080G>T (p.Glu694Ter)	ELAC2 (E693* +2 more)	Single nucleotide variant (nonsense)	Not Specified
Select item 4417630	NM_018127.7(ELAC2):c.2109-37G>C	ELAC2	Single nucleotide variant (intron variant)	Not Specified
Select item 4417629	NM_018127.7(ELAC2):c.2109-1G>T	ELAC2	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4248052	NM_018127.7(ELAC2):c.1355A>G (p.Gln452Arg)	ELAC2 (Q451R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4248051	NM_018127.7(ELAC2):c.922G>C (p.Val308Leu)	ELAC2 (V308L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4248050	NM_018127.7(ELAC2):c.2437G>T (p.Ala813Ser)	ELAC2 (A812S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4248048	NM_018127.7(ELAC2):c.1234C>A (p.Leu412Ile)	ELAC2 (L411I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4248047	NM_018127.7(ELAC2):c.1883T>C (p.Leu628Pro)	ELAC2 (L588P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4248046	NM_018127.7(ELAC2):c.335G>A (p.Arg112Gln)	ELAC2 (R112Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4078564	NM_018127.7(ELAC2):c.1198C>T (p.Leu400Phe)	ELAC2 (L360F +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 4075093	NM_018127.7(ELAC2):c.2054_2063del (p.His685fs)	ELAC2 (H645fs +2 more)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 4017356	NM_018127.7(ELAC2):c.1699-2A>G	ELAC2	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 4017355	NM_018127.7(ELAC2):c.2371C>T (p.Arg791Trp)	ELAC2 (R790W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4017354	NM_018127.7(ELAC2):c.907G>A (p.Gly303Ser)	ELAC2 (G303S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3903045	NM_018127.7(ELAC2):c.1943C>G (p.Ala648Gly)	ELAC2 (A608G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3844267	NM_018127.7(ELAC2):c.784A>T (p.Met262Leu)	ELAC2 (M222L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3844266	NM_018127.7(ELAC2):c.581A>C (p.His194Pro)	ELAC2 (H194P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3844264	NM_018127.7(ELAC2):c.1252C>A (p.Gln418Lys)	ELAC2 (Q418K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3844263	NM_018127.7(ELAC2):c.79G>A (p.Ala27Thr)	ELAC2 (A27T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3774003	NM_018127.7(ELAC2):c.1775A>C (p.His592Pro)	ELAC2 (H552P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3767199	NM_018127.7(ELAC2):c.1943C>T (p.Ala648Val)	ELAC2 (A608V +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GLikely pathogenic
Select item 3730823	NM_018127.7(ELAC2):c.1637_1638del (p.His546fs)	ELAC2 (H506fs +2 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 3730783	NM_018127.7(ELAC2):c.1659+7G>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3730459	NM_018127.7(ELAC2):c.1660-18C>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3730372	NM_018127.7(ELAC2):c.1311C>T (p.Ala437=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3730145	NM_018127.7(ELAC2):c.467G>T (p.Gly156Val)	ELAC2 (G156V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3727985	NM_018127.7(ELAC2):c.1079+16C>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3726874	NM_018127.7(ELAC2):c.1908+8del	ELAC2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 17	GBenign
Select item 3725964	NM_018127.7(ELAC2):c.936A>C (p.Pro312=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3724154	NM_018127.7(ELAC2):c.1551T>G (p.Gly517=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3722579	NM_018127.7(ELAC2):c.36C>A (p.Ala12=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3722479	NM_018127.7(ELAC2):c.507T>G (p.Ser169=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3722247	NM_018127.7(ELAC2):c.983+16_983+17del	ELAC2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3719258	NM_018127.7(ELAC2):c.194C>T (p.Ala65Val)	ELAC2 (A65V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3718983	NM_018127.7(ELAC2):c.51G>T (p.Ser17=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3717725	NM_018127.7(ELAC2):c.2108+14_2108+16dup	ELAC2	Duplication (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3716256	NM_018127.7(ELAC2):c.2253+15C>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3715956	NM_018127.7(ELAC2):c.1304+15del	ELAC2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3715955	NM_018127.7(ELAC2):c.645C>T (p.Ser215=)	ELAC2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3715950	NM_018127.7(ELAC2):c.1884G>C (p.Leu628=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3715546	NM_018127.7(ELAC2):c.1093dup (p.Thr365fs)	ELAC2 (T325fs +1 more)	Duplication (frameshift variant)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 3713655	NM_018127.7(ELAC2):c.245+14C>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3712519	NM_018127.7(ELAC2):c.2362C>T (p.Arg788Trp)	ELAC2 (R748W +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3712382	NM_018127.7(ELAC2):c.1461A>T (p.Gly487=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3712339	NM_018127.7(ELAC2):c.1521-16C>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3712076	NM_018127.7(ELAC2):c.423T>A (p.Pro141=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3711535	NM_018127.7(ELAC2):c.1521-24CT[2]	ELAC2	Microsatellite (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3709014	NM_018127.7(ELAC2):c.246-19T>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3707843	NM_018127.7(ELAC2):c.297-10T>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3707104	NM_018127.7(ELAC2):c.1923G>A (p.Leu641=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3706961	NM_018127.7(ELAC2):c.297-9C>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3706793	NM_018127.7(ELAC2):c.2283C>T (p.Pro761=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3706155	NM_018127.7(ELAC2):c.1218+11A>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3704494	NM_018127.7(ELAC2):c.1353G>A (p.Leu451=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3703606	NM_018127.7(ELAC2):c.2254-16C>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3703288	NM_018127.7(ELAC2):c.738+16C>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3703167	NM_018127.7(ELAC2):c.367+19G>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3697646	NM_018127.7(ELAC2):c.876G>A (p.Leu292=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3696220	NM_018127.7(ELAC2):c.264A>T (p.Gly88=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3695621	NM_018127.7(ELAC2):c.1572G>A (p.Leu524=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3692396	NM_018127.7(ELAC2):c.870+11T>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3692108	NM_018127.7(ELAC2):c.1764C>T (p.Leu588=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3691371	NM_018127.7(ELAC2):c.139G>T (p.Gly47Ter)	ELAC2 (G47*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 3690098	NM_018127.7(ELAC2):c.697_698delinsAA (p.Gly233Lys)	ELAC2 (G193K +1 more)	Indel (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3690097	NM_018127.7(ELAC2):c.700_713del (p.Val234fs)	ELAC2 (V194fs +1 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 3686034	NM_018127.7(ELAC2):c.1909-20del	ELAC2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3685914	NM_018127.7(ELAC2):c.1716G>A (p.Pro572=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3685891	NM_018127.7(ELAC2):c.444C>T (p.Leu148=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3684895	NM_018127.7(ELAC2):c.1881G>A (p.Ser627=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3684410	NM_018127.7(ELAC2):c.750G>A (p.Lys250=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3683760	NM_018127.7(ELAC2):c.1233C>G (p.Thr411=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign

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