ClinVar for MedGen (Select 4989) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2165062	NM_018100.4(EFHC1):c.672C>A (p.Val224=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +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 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 1169203	NM_018100.4(EFHC1):c.723+66del	EFHC1	Deletion (non-coding transcript variant +1 more)	Absence seizure +1 more	GBenign
Select item 1164130	NM_018100.4(EFHC1):c.723+106C>T	EFHC1	Single nucleotide variant (non-coding transcript variant +1 more)	Absence seizure +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)	Absence seizure +1 more	GLikely benign
Select item 1158336	NM_018100.4(EFHC1):c.1629A>G (p.Pro543=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1157997	NM_018100.4(EFHC1):c.1758T>C (p.Tyr586=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1156626	NM_018100.4(EFHC1):c.1563C>G (p.Ala521=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1155184	NM_018100.4(EFHC1):c.819G>A (p.Val273=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1153847	NM_018100.4(EFHC1):c.528T>A (p.Ile176=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1152678	NM_018100.4(EFHC1):c.1017G>A (p.Gly339=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1145015	NM_018100.4(EFHC1):c.333T>C (p.Thr111=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1140237	NM_018100.4(EFHC1):c.1527C>T (p.Asp509=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +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)	Absence seizure +1 more	GLikely benign
Select item 1135617	NM_018100.4(EFHC1):c.1626T>C (p.Ala542=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1131744	NM_018100.4(EFHC1):c.1602T>C (p.His534=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1126249	NM_018100.4(EFHC1):c.789C>T (p.Ile263=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1123194	NM_018100.4(EFHC1):c.339A>G (p.Glu113=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1120325	NM_018100.4(EFHC1):c.961T>C (p.Leu321=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1118330	NM_018100.4(EFHC1):c.546C>T (p.Arg182=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1116850	NM_018100.4(EFHC1):c.840A>G (p.Glu280=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1115525	NM_018100.4(EFHC1):c.1449C>G (p.Val483=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1113462	NM_018100.4(EFHC1):c.1494G>A (p.Val498=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1111877	NM_018100.4(EFHC1):c.1138-6C>T	EFHC1	Single nucleotide variant (intron variant)	Absence seizure +1 more	GLikely benign
Select item 1108176	NM_018100.4(EFHC1):c.1536T>G (p.Val512=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1105812	NM_018100.4(EFHC1):c.504A>G (p.Leu168=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1103900	NM_018100.4(EFHC1):c.1138-10G>A	EFHC1	Single nucleotide variant (intron variant)	Typical absence seizure +1 more	GLikely benign
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 1099492	NM_018100.4(EFHC1):c.816G>C (p.Thr272=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1099442	NM_018100.4(EFHC1):c.1827A>G (p.Pro609=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
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 1093217	NM_018100.4(EFHC1):c.917-7A>C	EFHC1	Single nucleotide variant (intron variant)	Absence seizure +1 more	GLikely benign
Select item 1092999	NM_018100.4(EFHC1):c.1335T>C (p.Ala445=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1092248	NM_018100.4(EFHC1):c.639T>C (p.Thr213=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1090187	NM_018100.4(EFHC1):c.1279-8C>G	EFHC1	Single nucleotide variant (intron variant)	Absence seizure +1 more	GLikely benign
Select item 1089159	NM_018100.4(EFHC1):c.618G>A (p.Lys206=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
Select item 1084085	NM_018100.4(EFHC1):c.912T>C (p.Asn304=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GLikely benign
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 1082125	NM_018100.4(EFHC1):c.1279-4G>C	EFHC1	Single nucleotide variant (intron variant)	Absence seizure +1 more	GLikely benign
Select item 1063222	NM_018100.4(EFHC1):c.723G>A (p.Gln241=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 1062675	NM_018100.4(EFHC1):c.458G>A (p.Arg153Gln)	EFHC1 (R134Q +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 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 1060501	NM_018100.4(EFHC1):c.1004T>G (p.Leu335Arg)	EFHC1 (L316R +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1059553	NM_018100.4(EFHC1):c.1261C>T (p.Arg421Cys)	EFHC1 (R402C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1057466	NM_018100.4(EFHC1):c.1863G>A (p.Met621Ile)	EFHC1 (M602I +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1057456	NM_018100.4(EFHC1):c.573+5A>G	EFHC1	Single nucleotide variant (intron variant)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1055947	NM_018100.4(EFHC1):c.1574C>T (p.Pro525Leu)	EFHC1 (P506L +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1055116	NM_018100.4(EFHC1):c.1558G>A (p.Ala520Thr)	EFHC1 (A501T +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)	not provided +2 more	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)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1052926	NM_018100.4(EFHC1):c.778C>T (p.Arg260Trp)	EFHC1 (R241W +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +2 more	GUncertain significance
Select item 1052761	NM_018100.4(EFHC1):c.286-1G>A	EFHC1	Single nucleotide variant (splice acceptor variant)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1051912	NM_018100.4(EFHC1):c.1370G>A (p.Arg457His)	EFHC1 (R438H +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1051205	NM_018100.4(EFHC1):c.1640+3G>T	EFHC1	Single nucleotide variant (intron variant)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1047743	NM_018100.4(EFHC1):c.1879G>A (p.Gly627Ser)	EFHC1 (G608S +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1046256	NM_018100.4(EFHC1):c.1373A>G (p.Asn458Ser)	EFHC1 (N439S +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1046112	NM_018100.4(EFHC1):c.1666G>A (p.Val556Met)	EFHC1 (V537M +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1045462	NM_018100.4(EFHC1):c.263C>T (p.Ala88Val)	EFHC1 (A88V +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1045296	NM_018100.4(EFHC1):c.1699C>T (p.Gln567Ter)	EFHC1 (Q548* +1 more)	Single nucleotide variant (nonsense +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1044823	NM_018100.4(EFHC1):c.1110C>T (p.Ser370=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1042685	NM_018100.4(EFHC1):c.755C>G (p.Thr252Arg)	EFHC1 (T233R +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1042217	NM_018100.4(EFHC1):c.1565A>G (p.Gln522Arg)	EFHC1 (Q522R +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1041097	NM_018100.4(EFHC1):c.1814C>T (p.Ser605Leu)	EFHC1 (S586L +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +2 more	GUncertain significance
Select item 1039609	NM_018100.4(EFHC1):c.674C>G (p.Thr225Ser)	EFHC1 (T225S +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1037327	NM_018100.4(EFHC1):c.569C>T (p.Thr190Ile)	EFHC1 (T171I +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1035975	NM_018100.4(EFHC1):c.490C>T (p.His164Tyr)	EFHC1 (H145Y +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1035636	NM_018100.4(EFHC1):c.757G>A (p.Asp253Asn)	EFHC1 (D253N +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1035287	NM_018100.4(EFHC1):c.1117G>T (p.Glu373Ter)	EFHC1 (E354* +1 more)	Single nucleotide variant (nonsense +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1034556	NM_018100.4(EFHC1):c.66A>G (p.Lys22=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +2 more	GUncertain significance
Select item 1033463	NM_018100.4(EFHC1):c.1640+19G>C	EFHC1	Single nucleotide variant (intron variant)	Absence seizure +1 more	GConflicting classifications of pathogenicity
Select item 1026208	NM_018100.4(EFHC1):c.761G>A (p.Ser254Asn)	EFHC1 (S235N +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1026185	NM_018100.4(EFHC1):c.1300A>G (p.Lys434Glu)	EFHC1 (K415E +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1025272	NM_018100.4(EFHC1):c.341A>G (p.Gln114Arg)	EFHC1 (Q114R +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +2 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 1018090	NM_018100.4(EFHC1):c.730C>T (p.Arg244Ter)	EFHC1 (R225* +1 more)	Single nucleotide variant (nonsense +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +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 1014745	NM_018100.4(EFHC1):c.1115G>A (p.Arg372Gln)	EFHC1 (R353Q +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +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 1014159	NM_018100.4(EFHC1):c.134T>C (p.Val45Ala)	EFHC1 (V26A +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
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 1011274	NM_018100.4(EFHC1):c.1549G>T (p.Glu517Ter)	EFHC1 (E498* +1 more)	Single nucleotide variant (nonsense +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1011210	NM_018100.4(EFHC1):c.815C>T (p.Thr272Met)	EFHC1 (T253M +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +2 more	GUncertain significance
Select item 1010536	NM_018100.4(EFHC1):c.1886T>G (p.Ile629Ser)	EFHC1 (I610S +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1009758	NM_018100.4(EFHC1):c.1618G>A (p.Ala540Thr)	EFHC1 (A521T +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1009248	NM_018100.4(EFHC1):c.886C>T (p.Arg296Cys)	EFHC1 (R277C +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +2 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)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1006991	NM_018100.4(EFHC1):c.1088A>G (p.Asp363Gly)	EFHC1 (D344G +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1006195	NM_018100.4(EFHC1):c.1091_1092insGGTATTACCTGATTTGGTAATTTGGTAATTACTGATTTGGTAATTTGGAATT (p.Leu364_Pro365insValLeuProAspLeuValIleTrpTer)	EFHC1	Insertion (nonsense +2 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more	GUncertain significance
Select item 1004112	NM_018100.4(EFHC1):c.1055G>A (p.Arg352Gln)	EFHC1 (R333Q +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance
Select item 1001394	NM_018100.4(EFHC1):c.1228A>G (p.Ile410Val)	EFHC1 (I391V +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +1 more	GUncertain significance

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