"GeneDx"[submitter] AND "EFHC1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	not provided +1 more	GBenign/Likely benign
Select item 357477	NM_018100.3(EFHC1):c.-148_-147GC[1]	EFHC1	Microsatellite	not provided +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 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 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)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +4 more	GBenign/Likely benign
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 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)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 205394	NM_018100.4(EFHC1):c.68C>T (p.Thr23Ile)	EFHC1 (T23I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	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)	not provided +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)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +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)	not provided +2 more	GLikely benign
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 137194	NM_018100.4(EFHC1):c.210A>G (p.Pro70=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +2 more	GBenign
Select item 205400	NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr)	EFHC1 (P77T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
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 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 205381	NM_018100.4(EFHC1):c.344A>G (p.Tyr115Cys)	EFHC1 (Y115C +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +2 more	GUncertain significance
Select item 196484	NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly)	EFHC1 (R159G +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +3 more	GBenign/Likely benign
Select item 128968	NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp)	EFHC1 (R159W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 2063	NM_018100.4(EFHC1):c.545G>A (p.Arg182His)	EFHC1 (R182H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 205378	NM_018100.4(EFHC1):c.547G>A (p.Val183Ile)	EFHC1 (V183I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 128969	NM_018100.4(EFHC1):c.573+10A>G	EFHC1	Single nucleotide variant (intron variant)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 205382	NM_018100.4(EFHC1):c.574G>A (p.Val192Ile)	EFHC1 (V192I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 382349	NM_018100.4(EFHC1):c.627T>C (p.Leu209=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 95886	NM_018100.4(EFHC1):c.629A>T (p.Asp210Val)	EFHC1 (D210V +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +4 more	GConflicting classifications of pathogenicity
Select item 205383	NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys)	EFHC1 (R221C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 205384	NM_018100.4(EFHC1):c.662G>A (p.Arg221His)	EFHC1 (R221H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 205385	NM_018100.4(EFHC1):c.680C>T (p.Ser227Leu)	EFHC1 (S227L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2064	NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)	EFHC1 (F229L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 205387	NM_018100.4(EFHC1):c.724-14T>A	EFHC1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 205388	NM_018100.4(EFHC1):c.731G>A (p.Arg244Gln)	EFHC1 (R244Q +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, idiopathic generalized, susceptibility to, 7 +3 more	GConflicting classifications of pathogenicity
Select item 205389	NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln)	EFHC1 (R260Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 205390	NM_018100.4(EFHC1):c.810T>G (p.Asp270Glu)	EFHC1 (D270E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +2 more	GUncertain significance
Select item 205391	NM_018100.4(EFHC1):c.817G>T (p.Val273Leu)	EFHC1 (V273L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 205392	NM_018100.4(EFHC1):c.826C>G (p.Arg276Gly)	EFHC1 (R276G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 128970	NM_018100.4(EFHC1):c.881G>A (p.Arg294His)	EFHC1 (R294H +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +3 more	GBenign
Select item 137192	NM_018100.4(EFHC1):c.887G>A (p.Arg296His)	EFHC1 (R296H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 205393	NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser)	EFHC1 (N304S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 1247528	NM_018100.4(EFHC1):c.916+166C>T	EFHC1	Single nucleotide variant (intron variant)	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 1277778	NM_018100.4(EFHC1):c.917-118G>T	EFHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321475	NM_018100.4(EFHC1):c.917-72G>A	EFHC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 205399	NM_018100.4(EFHC1):c.922T>A (p.Phe308Ile)	EFHC1 (F308I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 383453	NM_018100.4(EFHC1):c.943A>T (p.Ile315Phe)	EFHC1 (I315F +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure	GUncertain significance
Select item 205401	NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp)	EFHC1 (R353W +1 more)	Single nucleotide variant (missense variant +1 more)	Seizure +3 more	GConflicting classifications of pathogenicity
Select item 205402	NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln)	EFHC1 (R353Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 137195	NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys)	EFHC1 (E357K +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +3 more	GBenign/Likely benign
Select item 205403	NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp)	EFHC1 (R372W +1 more)	Single nucleotide variant (missense variant +1 more)	Juvenile myoclonic epilepsy +5 more	GConflicting classifications of pathogenicity
Select item 1321685	NM_018100.4(EFHC1):c.1137+31G>T	EFHC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225349	NM_018100.4(EFHC1):c.1138-293del	EFHC1	Deletion (intron variant)	not provided	GBenign
Select item 205405	NM_018100.4(EFHC1):c.1144C>T (p.Pro382Ser)	EFHC1 (P382S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 128960	NM_018100.4(EFHC1):c.1155C>T (p.Asn385=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 205406	NM_018100.4(EFHC1):c.1172A>G (p.Glu391Gly)	EFHC1 (E391G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 205407	NM_018100.4(EFHC1):c.1187A>G (p.Asn396Ser)	EFHC1 (N396S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 128961	NM_018100.4(EFHC1):c.1224C>T (p.Asp408=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +2 more	GBenign
Select item 205408	NM_018100.4(EFHC1):c.1270G>T (p.Ala424Ser)	EFHC1 (A424S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 381138	NM_018100.4(EFHC1):c.1278+15T>C	EFHC1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1293879	NM_018100.4(EFHC1):c.1278+100T>C	EFHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321788	NM_018100.4(EFHC1):c.1279-57G>T	EFHC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 198888	NM_018100.4(EFHC1):c.1306C>T (p.Arg436Cys)	EFHC1 (R436C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 205420	NM_018100.4(EFHC1):c.1314del (p.Phe438fs)	EFHC1 (F419fs +1 more)	Deletion (frameshift variant +1 more)	not provided	Gno classifications from unflagged records
Select item 377825	NM_018100.4(EFHC1):c.1338C>T (p.Thr446=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 128962	NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr)	EFHC1 (M448T +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 205404	NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu)	EFHC1 (R457L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 128963	NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr)	EFHC1 (I462T +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 205409	NM_018100.4(EFHC1):c.1443C>A (p.Asn481Lys)	EFHC1 (N481K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 205412	NM_018100.4(EFHC1):c.1454A>G (p.Tyr485Cys)	EFHC1 (Y485C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1227482	NM_018100.4(EFHC1):c.1492+175_1492+176del	EFHC1	Deletion (intron variant)	not provided	GBenign
Select item 1321778	NM_018100.4(EFHC1):c.1493-34C>T	EFHC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 205413	NM_018100.4(EFHC1):c.1547T>C (p.Met516Thr)	EFHC1 (M516T +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +2 more	GUncertain significance
Select item 205379	NM_018100.4(EFHC1):c.1557C>T (p.Asn519=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 377826	NM_018100.4(EFHC1):c.1584C>T (p.Leu528=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +2 more	GLikely benign
Select item 137196	NM_018100.4(EFHC1):c.1587G>A (p.Ala529=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 205414	NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter)	EFHC1 (R538* +1 more)	Single nucleotide variant (nonsense +1 more)	Juvenile myoclonic epilepsy	GConflicting classifications of pathogenicity
Select item 1244361	NM_018100.4(EFHC1):c.1640+77A>C	EFHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 193726	NM_018100.4(EFHC1):c.1675T>C (p.Leu559=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +3 more	GConflicting classifications of pathogenicity
Select item 432882	NM_018100.4(EFHC1):c.1763A>G (p.Lys588Arg)	EFHC1 (K588R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 205415	NM_018100.4(EFHC1):c.1765G>A (p.Glu589Lys)	EFHC1 (E589K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 128964	NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)	EFHC1 (E604D +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 287376	NM_018100.4(EFHC1):c.1820A>G (p.Asn607Ser)	EFHC1 (N607S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 1291077	NM_018100.4(EFHC1):c.1851+58T>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 1268851	NM_018100.4(EFHC1):c.1851+279C>T	EFHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326408	NM_018100.4(EFHC1):c.1852-48G>T	EFHC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128966	NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu)	EFHC1 (I619L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 205416	NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser)	EFHC1 (I619S +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 205417	NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys)	EFHC1 (Y631C +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +2 more	GUncertain significance
Select item 137197	NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +3 more	GBenign/Likely benign
Select item 205422	NM_018100.4(EFHC1):c.1907G>A (p.Arg636His)	EFHC1 (R636H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 357489	NM_018100.4(EFHC1):c.*121C>A	EFHC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign

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