ClinVar for Gene (Select 114327) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274685	NM_018100.4(EFHC1):c.1625C>T (p.Ala542Val)	EFHC1 (A523V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274683	NM_018100.4(EFHC1):c.733T>C (p.Phe245Leu)	EFHC1 (F245L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274682	NM_018100.4(EFHC1):c.836A>G (p.His279Arg)	EFHC1 (H279R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3274680	NM_018100.4(EFHC1):c.1780G>A (p.Val594Met)	EFHC1 (V575M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3087545	NM_018100.4(EFHC1):c.769G>C (p.Gly257Arg)	EFHC1 (G238R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3087542	NM_018100.4(EFHC1):c.1739G>A (p.Arg580His)	EFHC1 (R561H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087541	NM_018100.4(EFHC1):c.1633G>A (p.Ala545Thr)	EFHC1 (A526T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3087539	NM_018100.4(EFHC1):c.1021A>G (p.Thr341Ala)	EFHC1 (T341A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041427	NM_018100.4(EFHC1):c.917-1G>C	EFHC1	Single nucleotide variant (splice acceptor variant)	EFHC1-related disorder	GUncertain significance
Select item 2689001	NM_018100.4(EFHC1):c.499del (p.Asp167fs)	EFHC1 (D148fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 2656643	NM_018100.4(EFHC1):c.*1025AT[24]	EFHC1	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2656642	NM_018100.4(EFHC1):c.*1025AT[18]	EFHC1	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2656641	NM_018100.4(EFHC1):c.*1025AT[17]	EFHC1	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2656640	NC_000006.12:g.52413132G>T	EFHC1	Single nucleotide variant	not provided	GBenign
Select item 2503802	NM_018100.4(EFHC1):c.917-16C>T	EFHC1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2483433	NM_018100.4(EFHC1):c.1318T>C (p.Phe440Leu)	EFHC1 (F421L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 2304714	NM_018100.4(EFHC1):c.1871A>G (p.His624Arg)	EFHC1 (H605R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274255	NM_018100.4(EFHC1):c.1861A>G (p.Met621Val)	EFHC1 (M602V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273612	NM_018100.4(EFHC1):c.1081A>G (p.Ile361Val)	EFHC1 (I342V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256703	NM_018100.4(EFHC1):c.1808G>T (p.Cys603Phe)	EFHC1 (C603F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2206041	NM_018100.4(EFHC1):c.599A>T (p.Glu200Val)	EFHC1 (E181V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206040	NM_018100.4(EFHC1):c.598G>A (p.Glu200Lys)	EFHC1 (E181K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2165062	NM_018100.4(EFHC1):c.672C>A (p.Val224=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 2004501	NM_018100.4(EFHC1):c.917-6T>C	EFHC1	Single nucleotide variant (intron variant)	Absence seizure +1 more	GLikely benign
Select item 1709704	NM_018100.4(EFHC1):c.583G>C (p.Glu195Gln)	EFHC1 (E176Q +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1	GUncertain significance
Select item 1678303	NM_018100.4(EFHC1):c.1444C>G (p.Pro482Ala)	EFHC1 (P463A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1659557	NM_018100.4(EFHC1):c.1560T>C (p.Ala520=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely 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 1482836	NM_018100.4(EFHC1):c.1098del (p.Ile367fs)	EFHC1 (I348fs +1 more)	Deletion (frameshift variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1482232	NM_018100.4(EFHC1):c.1061A>G (p.Tyr354Cys)	EFHC1 (Y335C +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1443304	NM_018100.4(EFHC1):c.1834G>C (p.Asp612His)	EFHC1 (D593H +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 1426877	NM_018100.4(EFHC1):c.1391G>C (p.Gly464Ala)	EFHC1 (G445A +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 1412625	NM_018100.4(EFHC1):c.550G>T (p.Val184Phe)	EFHC1 (V184F +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 1366141	NM_018100.4(EFHC1):c.1225G>A (p.Val409Ile)	EFHC1 (V390I +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1340051	GRCh37/hg19 6p12.2(chr6:52238224-52541279)x3	EFHC1, PAQR8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1326408	NM_018100.4(EFHC1):c.1852-48G>T	EFHC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1321788	NM_018100.4(EFHC1):c.1279-57G>T	EFHC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321778	NM_018100.4(EFHC1):c.1493-34C>T	EFHC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321776	NC_000006.12:g.52420332G>T	EFHC1	Single nucleotide variant	not provided	GLikely benign
Select item 1321733	NC_000006.12:g.52420101A>G	EFHC1	Single nucleotide variant	not provided	GLikely benign
Select item 1321685	NM_018100.4(EFHC1):c.1137+31G>T	EFHC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321475	NM_018100.4(EFHC1):c.917-72G>A	EFHC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1297269	NM_018100.4(EFHC1):c.64-158G>C	EFHC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1293879	NM_018100.4(EFHC1):c.1278+100T>C	EFHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292345	NM_018100.4(EFHC1):c.286-180T>A	EFHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291077	NM_018100.4(EFHC1):c.1851+58T>C	EFHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282886	NM_018100.4(EFHC1):c.1045_1046insATATATATATATA	EFHC1	Insertion (3 prime UTR variant +1 more)	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 1277778	NM_018100.4(EFHC1):c.917-118G>T	EFHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268851	NM_018100.4(EFHC1):c.1851+279C>T	EFHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266006	NC_000006.12:g.52419923G>C	EFHC1	Single nucleotide variant	not provided	GBenign
Select item 1265636	NM_018100.4(EFHC1):c.*1027A>C	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1262209	NM_018100.4(EFHC1):c.*1023A>C	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1261420	NM_018100.4(EFHC1):c.63+123G>C	EFHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251412	NM_018100.4(EFHC1):c.1851+226A>G	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 1247528	NM_018100.4(EFHC1):c.916+166C>T	EFHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244361	NM_018100.4(EFHC1):c.1640+77A>C	EFHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227482	NM_018100.4(EFHC1):c.1492+175_1492+176del	EFHC1	Deletion (intron variant)	not provided	GBenign
Select item 1225349	NM_018100.4(EFHC1):c.1138-293del	EFHC1	Deletion (intron variant)	not provided	GBenign
Select item 1222265	NM_018100.4(EFHC1):c.*1025A>C	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1183748	NM_018100.4(EFHC1):c.1044_1045insA	EFHC1	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1182374	NM_018100.4(EFHC1):c.917-183G>A	EFHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169203	NM_018100.4(EFHC1):c.723+66del	EFHC1	Deletion (non-coding transcript variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GBenign
Select item 1164130	NM_018100.4(EFHC1):c.723+106C>T	EFHC1	Single nucleotide variant (non-coding transcript variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GBenign
Select item 1160071	NM_018100.4(EFHC1):c.1278+10A>G	EFHC1	Single nucleotide variant (intron variant)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 1159384	NM_018100.4(EFHC1):c.1104T>C (p.Asp368=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 1158336	NM_018100.4(EFHC1):c.1629A>G (p.Pro543=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 1157997	NM_018100.4(EFHC1):c.1758T>C (p.Tyr586=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 1156626	NM_018100.4(EFHC1):c.1563C>G (p.Ala521=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 1155184	NM_018100.4(EFHC1):c.819G>A (p.Val273=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 1153847	NM_018100.4(EFHC1):c.528T>A (p.Ile176=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 1152678	NM_018100.4(EFHC1):c.1017G>A (p.Gly339=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
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 1140237	NM_018100.4(EFHC1):c.1527C>T (p.Asp509=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 1139525	NM_018100.4(EFHC1):c.1138-4C>G	EFHC1	Single nucleotide variant (intron variant)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
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 1135617	NM_018100.4(EFHC1):c.1626T>C (p.Ala542=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 1131744	NM_018100.4(EFHC1):c.1602T>C (p.His534=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 1126249	NM_018100.4(EFHC1):c.789C>T (p.Ile263=)	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 1120325	NM_018100.4(EFHC1):c.961T>C (p.Leu321=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 1118330	NM_018100.4(EFHC1):c.546C>T (p.Arg182=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 1116850	NM_018100.4(EFHC1):c.840A>G (p.Glu280=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 1115525	NM_018100.4(EFHC1):c.1449C>G (p.Val483=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 1113462	NM_018100.4(EFHC1):c.1494G>A (p.Val498=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign
Select item 1111877	NM_018100.4(EFHC1):c.1138-6C>T	EFHC1	Single nucleotide variant (intron variant)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GLikely benign

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