ClinVar for MedGen (Select 148243) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1170

<< First< Prev

Page of 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068116	NM_001165963.4(SCN1A):c.1142A>G (p.Gln381Arg)	SCN1A (Q381R)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3067895	NM_001165963.4(SCN1A):c.412A>G (p.Ile138Val)	SCN1A (I138V)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3067173	NM_001165963.4(SCN1A):c.234G>C (p.Glu78Asp)	SCN1A (E78D)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067167	NM_001165963.4(SCN1A):c.3610T>A (p.Trp1204Arg)	LOC102724058, SCN1A (W1175R +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067166	NM_001165963.4(SCN1A):c.4759G>A (p.Glu1587Lys)	LOC102724058, SCN1A (E1558K +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067165	NM_001165963.4(SCN1A):c.2423C>G (p.Thr808Ser)	SCN1A (T779S +4 more)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067164	NM_001165963.4(SCN1A):c.5768A>G (p.Gln1923Arg)	LOC102724058, SCN1A (Q1109R +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067163	NM_001165963.4(SCN1A):c.777C>G (p.Ser259Arg)	SCN1A (S259R)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067162	NM_001165963.4(SCN1A):c.2593C>G (p.Arg865Gly)	SCN1A (R51G +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067161	NM_001165963.4(SCN1A):c.5779A>G (p.Arg1927Gly)	LOC102724058, SCN1A (R1113G +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067160	NM_001165963.4(SCN1A):c.4467G>T (p.Gln1489His)	LOC102724058, SCN1A (Q1460H +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067159	NM_001165963.4(SCN1A):c.2726T>A (p.Met909Lys)	SCN1A (M880K +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067158	NM_001165963.4(SCN1A):c.4498A>G (p.Met1500Val)	LOC102724058, SCN1A (M1471V +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067157	NM_001165963.4(SCN1A):c.3801G>C (p.Met1267Ile)	LOC102724058, SCN1A (M1238I +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067156	NM_001165963.4(SCN1A):c.5009T>G (p.Leu1670Trp)	LOC102724058, SCN1A (L1641W +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067155	NM_001165963.4(SCN1A):c.4946_4947delinsAA (p.Leu1649Gln)	LOC102724058, SCN1A (L1620Q +5 more)	Indel (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067154	NM_001165963.4(SCN1A):c.706A>G (p.Ile236Val)	SCN1A (I236V)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067153	NM_001165963.4(SCN1A):c.4494C>G (p.Ile1498Met)	LOC102724058, SCN1A (I1469M +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067152	NM_001165963.4(SCN1A):c.530G>C (p.Gly177Ala)	SCN1A (G177A)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067151	NM_001165963.4(SCN1A):c.5354T>G (p.Ile1785Ser)	LOC102724058, SCN1A (I1756S +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067147	NM_001165963.4(SCN1A):c.4981T>C (p.Phe1661Leu)	LOC102724058, SCN1A (F1632L +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067140	NM_001165963.4(SCN1A):c.4243T>A (p.Phe1415Ile)	LOC102724058, SCN1A (F1386I +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3065909	NM_001165963.4(SCN1A):c.5170G>C (p.Ala1724Pro)	LOC102724058, SCN1A (A1695P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3065907	NM_001165963.4(SCN1A):c.3290T>G (p.Ile1097Ser)	LOC102724058, SCN1A (I1068S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 3065501	NM_001165963.4(SCN1A):c.3668T>G (p.Phe1223Cys)	LOC102724058, SCN1A (F1194C +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3064852	NM_001165963.4(SCN1A):c.437C>A (p.Thr146Lys)	SCN1A (T146K)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3064538	NM_001165963.4(SCN1A):c.2432T>C (p.Phe811Ser)	SCN1A (F782S +4 more)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3064506	NM_001165963.4(SCN1A):c.3498del (p.Gln1166fs)	LOC102724058, SCN1A (Q1137fs +5 more)	Deletion (non-coding transcript variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3064140	NM_001165963.4(SCN1A):c.1178delinsTTAC (p.Arg393delinsLeuThr)	SCN1A	Indel (inframe_indel +2 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3024319	NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)	SCN1A (Q429K)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +3 more	GPathogenic
Select item 3024230	NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)	SCN1A (D81N)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +3 more	GPathogenic
Select item 3017429	NM_001330723.2(SNX27):c.1167G>A (p.Lys389=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2994336	NM_001330723.2(SNX27):c.87C>T (p.His29=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2983825	NM_001330723.2(SNX27):c.864A>G (p.Thr288=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2981159	NM_001330723.2(SNX27):c.129C>T (p.Val43=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2980820	NM_001330723.2(SNX27):c.954T>C (p.Phe318=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2968069	NM_001330723.2(SNX27):c.933C>T (p.Asp311=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2956443	NM_001330723.2(SNX27):c.858G>A (p.Thr286=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2919755	NM_001330723.2(SNX27):c.840A>G (p.Ala280=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2914478	NM_001330723.2(SNX27):c.1240-14T>C	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2909784	NM_001330723.2(SNX27):c.1240-18_1240-3del	SNX27	Deletion (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2899525	NM_001330723.2(SNX27):c.544-5A>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2864831	NM_001330723.2(SNX27):c.1578+100G>T	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2856805	NM_001330723.2(SNX27):c.1518+14G>A	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2853362	NM_001330723.2(SNX27):c.312-14C>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2849407	NM_001330723.2(SNX27):c.1512G>A (p.Thr504=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2847753	NM_001330723.2(SNX27):c.975T>C (p.Ser325=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2839270	NM_001330723.2(SNX27):c.360G>C (p.Leu120=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2834654	NM_001330723.2(SNX27):c.312-9T>C	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2831666	NM_001330723.2(SNX27):c.1063T>C (p.Leu355=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2830515	NM_001330723.2(SNX27):c.219G>A (p.Glu73=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2828828	NM_001330723.2(SNX27):c.727C>T (p.Leu243=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2825035	NM_001330723.2(SNX27):c.615G>A (p.Gln205=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2823252	NM_001330723.2(SNX27):c.1176C>T (p.Tyr392=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2820851	NM_001330723.2(SNX27):c.174G>C (p.Arg58=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2810832	NM_001330723.2(SNX27):c.573G>A (p.Gln191=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2809384	NM_001330723.2(SNX27):c.1474C>T (p.Arg492Ter)	SNX27 (R492*)	Single nucleotide variant (nonsense)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 2809156	NM_001330723.2(SNX27):c.1362T>C (p.His454=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2803642	NM_001330723.2(SNX27):c.1240-12_1240-11insCTT	SNX27	Insertion (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2801366	NM_001330723.2(SNX27):c.1518+17G>A	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2790206	NM_001330723.2(SNX27):c.311+15T>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2780344	NM_001330723.2(SNX27):c.907-6C>T	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2780135	NM_001330723.2(SNX27):c.543+20G>T	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2766005	NM_001330723.2(SNX27):c.516T>C (p.His172=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2759549	NM_001330723.2(SNX27):c.1164G>T (p.Val388=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2756304	NM_001330723.2(SNX27):c.618C>T (p.Asn206=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2748539	NM_001330723.2(SNX27):c.311+20G>C	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2740666	NM_001330723.2(SNX27):c.1149+20T>A	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2726922	NM_001330723.2(SNX27):c.543+16A>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2725553	NM_001330723.2(SNX27):c.93C>T (p.Ala31=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2719192	NM_001330723.2(SNX27):c.858G>T (p.Thr286=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2717709	NM_001330723.2(SNX27):c.311+13G>A	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2714875	NM_001330723.2(SNX27):c.985+15C>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2714081	NM_001330723.2(SNX27):c.1390-15G>T	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2710701	NM_001330723.2(SNX27):c.1072C>T (p.Arg358Ter)	SNX27 (R358*)	Single nucleotide variant (nonsense)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 2704765	NM_001330723.2(SNX27):c.1390-20C>T	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2704694	NM_001330723.2(SNX27):c.981C>T (p.Ser327=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2692373	NM_001165963.4(SCN1A):c.173G>T (p.Gly58Val)	SCN1A (G58V)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 2687882	NM_001165963.4(SCN1A):c.2415+1G>T	SCN1A	Single nucleotide variant (5 prime UTR variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 2672178	NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)	LOC102724058, SCN1A (H1346P +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely pathogenic
Select item 2664199	NM_001165963.4(SCN1A):c.793G>C (p.Gly265Arg)	SCN1A (G265R)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2663888	NM_001165963.4(SCN1A):c.2739T>C (p.Gly913=)	SCN1A	Single nucleotide variant (synonymous variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2637974	NM_001165963.4(SCN1A):c.4708_4709del (p.Thr1570fs)	LOC102724058, SCN1A (T1541fs +5 more)	Deletion (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 2627530	NM_001165963.4(SCN1A):c.5003C>T (p.Pro1668Leu)	LOC102724058, SCN1A (P1639L +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2585513	NM_001165963.4(SCN1A):c.761C>T (p.Thr254Ile)	SCN1A (T254I)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2584795	NM_001165963.4(SCN1A):c.5611_5617del (p.Phe1871fs)	LOC102724058, SCN1A (F1859fs +5 more)	Deletion (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2583142	NM_001165963.4(SCN1A):c.2847del (p.Cys949fs)	SCN1A (C135fs +5 more)	Deletion (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 2581808	NM_001165963.4(SCN1A):c.3697G>A (p.Gly1233Ser)	LOC102724058, SCN1A (G1204S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2580979	NM_001165963.4(SCN1A):c.5455G>T (p.Ala1819Ser)	LOC102724058, SCN1A (A1005S +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +2 more	GUncertain significance
Select item 2578402	NM_001165963.4(SCN1A):c.939del (p.Trp314fs)	SCN1A (W314fs)	Deletion (frameshift variant +2 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 2578401	NM_001165963.4(SCN1A):c.3182del (p.Cys1061fs)	LOC102724058, SCN1A (C1032fs +5 more)	Deletion (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 2578399	NM_001165963.4(SCN1A):c.4769T>C (p.Leu1590Pro)	LOC102724058, SCN1A (L1561P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 2577420	NM_001165963.4(SCN1A):c.2344A>C (p.Thr782Pro)	SCN1A (T753P +4 more)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 2576599	NM_001165963.4(SCN1A):c.3961_3962del (p.Leu1321fs)	LOC102724058, SCN1A (L1292fs +5 more)	Microsatellite (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 2573194	NM_001165963.4(SCN1A):c.965-2A>G	SCN1A	Single nucleotide variant (splice acceptor variant)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 2572473	NM_001165963.4(SCN1A):c.1186G>A (p.Gly396Arg)	SCN1A (G396R)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 2506526	GRCh37/hg19 2q24.3(chr2:166872248-167334216)	SCN1A, SCN7A +1 more	Copy number loss	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 2506369	NM_001165963.4(SCN1A):c.4907G>C (p.Arg1636Pro)	LOC102724058, SCN1A (R1607P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 2505357	NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)	LOC102724058, SCN1A (Y1431C +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +1 more	GLikely pathogenic
Select item 2501293	NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)	LOC102724058, SCN1A (S1442C +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 12