EFHC1[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 147421	GRCh38/hg38 6p12.2(chr6:51803422-52698500)x1	EFHC1, IL17A +58 more	Copy number loss	See cases	GPathogenic
Select item 151163	GRCh38/hg38 6p12.2(chr6:52361400-52451825)x1	EFHC1, LOC110121250 +5 more	Copy number loss	See cases	GUncertain significance
Select item 2656640	NC_000006.12:g.52413132G>T	EFHC1	Single nucleotide variant	not provided	GBenign
Select item 1266006	NC_000006.12:g.52419923G>C	EFHC1	Single nucleotide variant	not provided	GBenign
Select item 1321733	NC_000006.12:g.52420101A>G	EFHC1	Single nucleotide variant	not provided	GLikely benign
Select item 357475	NM_018100.3(EFHC1):c.-195A>G	EFHC1	Single nucleotide variant	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 357476	NM_018100.3(EFHC1):c.-162C>T	EFHC1	Single nucleotide variant	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 357477	NM_018100.3(EFHC1):c.-148_-147GC[1]	EFHC1	Microsatellite	Juvenile myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 1321776	NC_000006.12:g.52420332G>T	EFHC1	Single nucleotide variant	not provided	GLikely benign
Select item 380360	NM_018100.4(EFHC1):c.-13G>A	EFHC1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1013951	NM_018100.4(EFHC1):c.1A>G (p.Met1Val)	EFHC1 (M1V)	Single nucleotide variant (missense variant +2 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 3274679	NM_018100.4(EFHC1):c.13C>A (p.Pro5Thr)	EFHC1 (P5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 447311	NM_018100.4(EFHC1):c.15C>T (p.Pro5=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 937097	NM_018100.4(EFHC1):c.16G>A (p.Val6Met)	EFHC1 (V6M)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 205411	NM_018100.4(EFHC1):c.19C>G (p.His7Asp)	EFHC1 (H7D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1325574	NM_018100.4(EFHC1):c.21T>A (p.His7Gln)	EFHC1 (H7Q)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1	GUncertain significance
Select item 648818	NM_018100.4(EFHC1):c.21T>G (p.His7Gln)	EFHC1 (H7Q)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 205418	NM_018100.4(EFHC1):c.22G>C (p.Gly8Arg)	EFHC1 (G8R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 128967	NM_018100.4(EFHC1):c.25T>C (p.Leu9=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 842365	NM_018100.4(EFHC1):c.28C>G (p.Pro10Ala)	EFHC1 (P10A)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 3087544	NM_018100.4(EFHC1):c.37C>T (p.Pro13Ser)	EFHC1 (P13S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 465667	NM_018100.4(EFHC1):c.40G>A (p.Gly14Ser)	EFHC1 (G14S)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 205380	NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala)	EFHC1 (T15A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 645721	NM_018100.4(EFHC1):c.54G>T (p.Lys18Asn)	EFHC1 (K18N)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 662783	NM_018100.4(EFHC1):c.59C>T (p.Ser20Phe)	EFHC1 (S20F)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 205419	NM_018100.4(EFHC1):c.63+2T>C	EFHC1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1261420	NM_018100.4(EFHC1):c.63+123G>C	EFHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250673	NM_018100.4(EFHC1):c.64-262del	EFHC1	Deletion (intron variant)	not provided	GBenign
Select item 1297269	NM_018100.4(EFHC1):c.64-158G>C	EFHC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 137193	NM_018100.4(EFHC1):c.64-5T>C	EFHC1	Single nucleotide variant (intron variant)	Absence seizure +3 more	GConflicting classifications of pathogenicity
Select item 1034556	NM_018100.4(EFHC1):c.66A>G (p.Lys22=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GUncertain significance
Select item 205394	NM_018100.4(EFHC1):c.68C>T (p.Thr23Ile)	EFHC1 (T23I +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +2 more	GUncertain significance
Select item 1099788	NM_018100.4(EFHC1):c.69A>T (p.Thr23=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Typical absence seizure +1 more	GLikely benign
Select item 2246890	NM_018100.4(EFHC1):c.73T>C (p.Phe25Leu)	EFHC1 (F25L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 859506	NM_018100.4(EFHC1):c.76C>T (p.His26Tyr)	EFHC1 (H7Y +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1319722	NM_018100.4(EFHC1):c.77A>C (p.His26Pro)	EFHC1 (H26P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2333561	NM_018100.4(EFHC1):c.83G>A (p.Ser28Asn)	EFHC1 (S28N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 205395	NM_018100.4(EFHC1):c.84T>A (p.Ser28Arg)	EFHC1 (S28R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 205396	NM_018100.4(EFHC1):c.89C>T (p.Thr30Met)	EFHC1 (T30M +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +2 more	GConflicting classifications of pathogenicity
Select item 128971	NM_018100.4(EFHC1):c.90G>A (p.Thr30=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Juvenile myoclonic epilepsy +4 more	GConflicting classifications of pathogenicity
Select item 205397	NM_018100.4(EFHC1):c.97T>C (p.Tyr33His)	EFHC1 (Y33H +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +2 more	GLikely benign
Select item 3274681	NM_018100.4(EFHC1):c.104A>G (p.Asn35Ser)	EFHC1 (N16S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1137266	NM_018100.4(EFHC1):c.105C>T (p.Asn35=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 836132	NM_018100.4(EFHC1):c.110A>G (p.Tyr37Cys)	EFHC1 (Y37C +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 3087540	NM_018100.4(EFHC1):c.121C>G (p.Arg41Gly)	EFHC1 (R22G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310438	NM_018100.4(EFHC1):c.122G>A (p.Arg41Gln)	EFHC1 (R22Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1053349	NM_018100.4(EFHC1):c.124C>T (p.Arg42Cys)	EFHC1 (R23C +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 937010	NM_018100.4(EFHC1):c.125G>C (p.Arg42Pro)	EFHC1 (R42P +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 411575	NM_018100.4(EFHC1):c.125G>A (p.Arg42His)	EFHC1 (R42H +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1014159	NM_018100.4(EFHC1):c.134T>C (p.Val45Ala)	EFHC1 (V26A +1 more)	Single nucleotide variant (missense variant +1 more)	Typical absence seizure +1 more	GUncertain significance
Select item 928565	NM_018100.4(EFHC1):c.139A>G (p.Ile47Val)	EFHC1 (I28V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 585843	NM_018100.4(EFHC1):c.140T>A (p.Ile47Lys)	EFHC1 (I47K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 357478	NM_018100.4(EFHC1):c.144C>T (p.Gly48=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Juvenile myoclonic epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 655656	NM_018100.4(EFHC1):c.145G>A (p.Gly49Arg)	EFHC1 (G49R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 205398	NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp)	EFHC1 (R51W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2207098	NM_018100.4(EFHC1):c.152G>A (p.Arg51Gln)	EFHC1 (R51Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 833553	NM_018100.4(EFHC1):c.160T>C (p.Phe54Leu)	EFHC1 (F35L +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 580362	NM_018100.4(EFHC1):c.165C>G (p.Asn55Lys)	EFHC1 (N55K +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +2 more	GUncertain significance
Select item 534106	NM_018100.4(EFHC1):c.187G>A (p.Asp63Asn)	EFHC1 (D63N +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 958394	NM_018100.4(EFHC1):c.194T>C (p.Leu65Ser)	EFHC1 (L46S +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 641875	NM_018100.4(EFHC1):c.199A>G (p.Ser67Gly)	EFHC1 (S67G +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 1014418	NM_018100.4(EFHC1):c.206C>T (p.Ala69Val)	EFHC1 (A50V +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 137194	NM_018100.4(EFHC1):c.210A>G (p.Pro70=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +2 more	GBenign
Select item 942183	NM_018100.4(EFHC1):c.226C>T (p.Gln76Ter)	EFHC1 (Q57* +1 more)	Single nucleotide variant (nonsense +1 more)	Typical absence seizure +1 more	GUncertain significance
Select item 1017689	NM_018100.4(EFHC1):c.227A>G (p.Gln76Arg)	EFHC1 (Q57R +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 205400	NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr)	EFHC1 (P77T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1492544	NM_018100.4(EFHC1):c.237A>T (p.Gln79His)	EFHC1 (Q79H +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 579355	NM_018100.4(EFHC1):c.241C>T (p.Pro81Ser)	EFHC1 (P81S +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 840601	NM_018100.4(EFHC1):c.248C>T (p.Ala83Val)	EFHC1 (A83V +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 698752	NM_018100.4(EFHC1):c.249G>A (p.Ala83=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1045462	NM_018100.4(EFHC1):c.263C>T (p.Ala88Val)	EFHC1 (A88V +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 205421	NM_018100.4(EFHC1):c.266A>G (p.His89Arg)	EFHC1 (H89R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1061003	NM_018100.4(EFHC1):c.277G>C (p.Asp93His)	EFHC1 (D74H +1 more)	Single nucleotide variant (missense variant +1 more)	Typical absence seizure +1 more	GUncertain significance
Select item 1292345	NM_018100.4(EFHC1):c.286-180T>A	EFHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280585	NM_018100.4(EFHC1):c.286-54G>T	EFHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1052761	NM_018100.4(EFHC1):c.286-1G>A	EFHC1	Single nucleotide variant (splice acceptor variant)	Typical absence seizure +1 more	GUncertain significance
Select item 1083769	NM_018100.4(EFHC1):c.288A>G (p.Val96=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 665527	NM_018100.4(EFHC1):c.290T>C (p.Leu97Pro)	EFHC1 (L78P +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 658244	NM_018100.4(EFHC1):c.305A>G (p.Tyr102Cys)	EFHC1 (Y83C +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 1145015	NM_018100.4(EFHC1):c.333T>C (p.Thr111=)	EFHC1	Single nucleotide variant (non-coding transcript variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 854892	NM_018100.4(EFHC1):c.336G>A (p.Glu112=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 1123194	NM_018100.4(EFHC1):c.339A>G (p.Glu113=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 1025272	NM_018100.4(EFHC1):c.341A>G (p.Gln114Arg)	EFHC1 (Q114R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 205381	NM_018100.4(EFHC1):c.344A>G (p.Tyr115Cys)	EFHC1 (Y115C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 357479	NM_018100.4(EFHC1):c.346A>G (p.Arg116Gly)	EFHC1 (R116G +1 more)	Single nucleotide variant (missense variant +1 more)	Juvenile myoclonic epilepsy	GUncertain significance
Select item 854714	NM_018100.4(EFHC1):c.350T>C (p.Ile117Thr)	EFHC1 (I117T +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1053974	NM_018100.4(EFHC1):c.352C>T (p.Arg118Cys)	EFHC1 (R118C +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +2 more	GUncertain significance
Select item 953266	NM_018100.4(EFHC1):c.364_369del (p.Ile122_Tyr123del)	EFHC1	Deletion (inframe_deletion +1 more)	Absence seizure +1 more	GUncertain significance
Select item 1008815	NM_018100.4(EFHC1):c.371A>G (p.Tyr124Cys)	EFHC1 (Y105C +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 1095575	NM_018100.4(EFHC1):c.378A>G (p.Leu126=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 534107	NM_018100.4(EFHC1):c.379G>C (p.Glu127Gln)	EFHC1 (E127Q +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 1019163	NM_018100.4(EFHC1):c.388A>G (p.Ser130Gly)	EFHC1 (S111G +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 218751	NM_018100.4(EFHC1):c.427A>G (p.Ile143Val)	EFHC1 (I143V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 702655	NM_018100.4(EFHC1):c.451C>T (p.Arg151Cys)	EFHC1 (R151C +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +2 more	GLikely benign
Select item 2471238	NM_018100.4(EFHC1):c.452G>A (p.Arg151His)	EFHC1 (R151H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 863597	NM_018100.4(EFHC1):c.452G>T (p.Arg151Leu)	EFHC1 (R151L +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +2 more	GUncertain significance
Select item 846571	NM_018100.4(EFHC1):c.457C>T (p.Arg153Trp)	EFHC1 (R153W +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance

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