ClinVar for MedGen (Select 4506) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336823	NM_001165963.4(SCN1A):c.5547_5548insGC (p.Ile1850fs)	LOC102724058, SCN1A (I1036fs +5 more)	Insertion (frameshift variant +1 more)	Epilepsy	GPathogenic
Select item 3243223	NC_000016.9:g.(?_628765)_(633035_?)dup	PIGQ	Duplication	Epilepsy	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3243221	NC_000016.9:g.(?_624075)_(633035_?)del	PIGQ	Deletion	Epilepsy	GPathogenic
Select item 3076080	NM_001165963.4(SCN1A):c.955C>T (p.Gln319Ter)	SCN1A (Q319*)	Single nucleotide variant (nonsense +2 more)	Epilepsy	GPathogenic
Select item 3076079	NM_001271.4(CHD2):c.1719+1G>A	CHD2	Single nucleotide variant (splice donor variant)	Epilepsy	GPathogenic
Select item 3023987	NM_004204.5(PIGQ):c.477G>T (p.Thr159=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 3020559	NM_004204.5(PIGQ):c.1336-20G>A	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 3017525	NM_004204.5(PIGQ):c.645G>T (p.Leu215=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 3014010	NM_004204.5(PIGQ):c.689+13G>A	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 3008372	NM_004204.5(PIGQ):c.255dup (p.Ala86fs)	PIGQ (A86fs)	Duplication (frameshift variant)	Epilepsy	GPathogenic
Select item 2995073	NM_004204.5(PIGQ):c.927C>T (p.Leu309=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2985603	NM_004204.5(PIGQ):c.1740G>A (p.Gln580=)	PIGQ (G560R)	Single nucleotide variant (synonymous variant +1 more)	Epilepsy	GLikely benign
Select item 2976561	NM_004204.5(PIGQ):c.220G>T (p.Glu74Ter)	PIGQ (E74*)	Single nucleotide variant (nonsense)	Epilepsy	GPathogenic
Select item 2960811	NM_004204.5(PIGQ):c.1249C>T (p.Leu417=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2960415	NM_004204.5(PIGQ):c.758G>A (p.Arg253Gln)	PIGQ (R253Q)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2954923	NM_004204.5(PIGQ):c.275C>A (p.Pro92His)	PIGQ (P92H)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2920045	NM_004204.5(PIGQ):c.906C>T (p.Ile302=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2918520	NM_004204.5(PIGQ):c.834G>A (p.Thr278=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2915707	NM_004204.5(PIGQ):c.1557G>A (p.Arg519=)	PIGQ	Single nucleotide variant (synonymous variant +1 more)	Epilepsy	GLikely benign
Select item 2912694	NM_004204.5(PIGQ):c.1491C>T (p.Tyr497=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2910749	NM_004204.5(PIGQ):c.774G>A (p.Thr258=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2901493	NM_004204.5(PIGQ):c.573G>A (p.Trp191Ter)	PIGQ (W191*)	Single nucleotide variant (nonsense)	Epilepsy	GPathogenic
Select item 2899327	NM_004204.5(PIGQ):c.1692G>A (p.Leu564=)	PIGQ (V544I)	Single nucleotide variant (synonymous variant +1 more)	Epilepsy	GLikely benign
Select item 2897202	NM_004204.5(PIGQ):c.286C>T (p.Leu96=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2895438	NM_004204.5(PIGQ):c.690-20T>C	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2890578	NM_004204.5(PIGQ):c.1223+7G>T	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2888240	NM_004204.5(PIGQ):c.1531+12G>A	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2887432	NM_004204.5(PIGQ):c.1069+16G>C	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2882543	NM_004204.5(PIGQ):c.822-11C>T	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2873202	NM_004204.5(PIGQ):c.1069+22del	PIGQ	Deletion (intron variant)	Epilepsy	GBenign
Select item 2854525	NM_004204.5(PIGQ):c.1029G>C (p.Val343=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GUncertain significance
Select item 2854523	NM_004204.5(PIGQ):c.1071C>G (p.Ser357Arg)	PIGQ (S357R)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2849510	NM_004204.5(PIGQ):c.1069+16G>T	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2845834	NM_004204.5(PIGQ):c.1680G>A (p.Leu560=)	PIGQ (V540M)	Single nucleotide variant (synonymous variant +1 more)	Epilepsy	GLikely benign
Select item 2842326	NM_004204.5(PIGQ):c.690-12A>G	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2836753	NM_004204.5(PIGQ):c.1713C>T (p.Tyr571=)	PIGQ (P551S)	Single nucleotide variant (synonymous variant +1 more)	Epilepsy	GLikely benign
Select item 2834332	NM_001165963.4(SCN1A):c.1234T>C (p.Phe412Leu)	SCN1A (F412L)	Single nucleotide variant (missense variant +2 more)	Epilepsy +1 more	GLikely pathogenic
Select item 2831080	NM_004204.5(PIGQ):c.223G>T (p.Glu75Ter)	PIGQ (E75*)	Single nucleotide variant (nonsense)	Epilepsy	GPathogenic
Select item 2824837	NM_004204.5(PIGQ):c.967C>T (p.Leu323=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2823849	NM_004204.5(PIGQ):c.444C>G (p.Pro148=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2822796	NM_004204.5(PIGQ):c.1674C>A (p.Gly558=)	PIGQ (R538S)	Single nucleotide variant (synonymous variant +1 more)	Epilepsy	GLikely benign
Select item 2814931	NM_004204.5(PIGQ):c.774G>T (p.Thr258=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2807558	NM_004204.5(PIGQ):c.105C>T (p.Val35=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2802581	NM_004204.5(PIGQ):c.780C>T (p.Ile260=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2802239	NM_004204.5(PIGQ):c.159G>A (p.Arg53=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2801140	NM_004204.5(PIGQ):c.1434C>G (p.Val478=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2762450	NM_004204.5(PIGQ):c.396C>T (p.Asp132=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2759826	NM_004204.5(PIGQ):c.1638C>T (p.Leu546=)	PIGQ (P526S)	Single nucleotide variant (synonymous variant +1 more)	Epilepsy	GLikely benign
Select item 2757276	NM_004204.5(PIGQ):c.1059C>T (p.His353=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2755453	NM_004204.5(PIGQ):c.1593+14T>A	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2752839	NM_004204.5(PIGQ):c.1335+18T>G	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2750949	NM_004204.5(PIGQ):c.1284G>A (p.Lys428=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2750505	NM_004204.5(PIGQ):c.60G>A (p.Val20=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2745223	NM_004204.5(PIGQ):c.1185C>A (p.Leu395=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2741890	NM_004204.5(PIGQ):c.1531+1G>A	PIGQ	Single nucleotide variant (splice donor variant)	Epilepsy	GLikely pathogenic
Select item 2740261	NM_004204.5(PIGQ):c.39G>A (p.Ser13=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2737726	NM_004204.5(PIGQ):c.1176C>T (p.Ile392=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2730451	NM_004204.5(PIGQ):c.195C>A (p.Thr65=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2730046	NM_004204.5(PIGQ):c.1062G>A (p.Leu354=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2723162	NM_004204.5(PIGQ):c.1182C>T (p.Leu394=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2719962	NM_004204.5(PIGQ):c.689+8T>C	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2716448	NM_004204.5(PIGQ):c.1185C>T (p.Leu395=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2715312	NM_004204.5(PIGQ):c.321C>T (p.Cys107=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2715309	NM_004204.5(PIGQ):c.753G>C (p.Arg251=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2714706	NM_004204.5(PIGQ):c.48C>T (p.Ser16=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2708701	NM_004204.5(PIGQ):c.1425C>T (p.Leu475=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2702197	NM_004204.5(PIGQ):c.943-15C>T	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2699198	NM_004204.5(PIGQ):c.1417-12C>A	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2697072	NM_004204.5(PIGQ):c.1335+12G>A	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2694082	NM_004204.5(PIGQ):c.1521C>T (p.Tyr507=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2645827	NM_004204.5(PIGQ):c.1479C>T (p.Ser493=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy +1 more	GLikely benign
Select item 2571331	NM_001195248.2(APTX):c.739C>T (p.Arg247Ter)	APTX (R159* +4 more)	Single nucleotide variant (nonsense +1 more)	Epilepsy +1 more	GPathogenic
Select item 2428471	NM_004204.5(PIGQ):c.1429G>A (p.Val477Met)	PIGQ (V477M)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2425036	NC_000016.9:g.(?_256302)_(633035_?)del	ARHGDIG, AXIN1 +13 more	Deletion	Epilepsy	GPathogenic
Select item 2425035	NC_000016.9:g.(?_622268)_(632290_?)del	PIGQ	Deletion	Epilepsy	GPathogenic
Select item 2425034	NC_000016.9:g.(?_289853)_(626274_?)dup	ARHGDIG, AXIN1 +12 more	Duplication	Epilepsy	GUncertain significance
Select item 2202289	NM_004204.5(PIGQ):c.1224-20G>A	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2201468	NM_004204.5(PIGQ):c.271G>A (p.Glu91Lys)	PIGQ (E91K)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2199583	NM_004204.5(PIGQ):c.942C>T (p.Asp314=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GUncertain significance
Select item 2197584	NM_004204.5(PIGQ):c.520G>A (p.Val174Met)	PIGQ (V174M)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2197209	NM_004204.5(PIGQ):c.1417C>G (p.Leu473Val)	PIGQ (L473V)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2195745	NM_004204.5(PIGQ):c.1290C>T (p.Asn430=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2194035	NM_004204.5(PIGQ):c.625T>G (p.Ser209Ala)	PIGQ (S209A)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2193611	NM_004204.5(PIGQ):c.791G>A (p.Arg264Gln)	PIGQ (R264Q)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2190518	NM_004204.5(PIGQ):c.1509C>T (p.Leu503=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2185738	NM_004204.5(PIGQ):c.1636C>T (p.Leu546Phe)	PIGQ (L546F +1 more)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2184531	NM_004204.5(PIGQ):c.882C>T (p.Ser294=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2184501	NM_004204.5(PIGQ):c.1127C>T (p.Ser376Leu)	PIGQ (S376L)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2183709	NM_004204.5(PIGQ):c.435C>T (p.Thr145=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2183613	NM_004204.5(PIGQ):c.1621G>A (p.Val541Met)	PIGQ (V541M +1 more)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2183276	NM_004204.5(PIGQ):c.241C>T (p.Leu81=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2182595	NM_004204.5(PIGQ):c.1547G>C (p.Arg516Pro)	PIGQ (R516P)	Single nucleotide variant (missense variant +1 more)	Epilepsy	GUncertain significance
Select item 2180643	NM_004204.5(PIGQ):c.511C>T (p.Arg171Cys)	PIGQ (R171C)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2177888	NM_004204.5(PIGQ):c.1566C>T (p.Ala522=)	PIGQ	Single nucleotide variant (synonymous variant +1 more)	Epilepsy	GLikely benign
Select item 2177029	NM_004204.5(PIGQ):c.637T>C (p.Cys213Arg)	PIGQ (C213R)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2176106	NM_004204.5(PIGQ):c.40_41inv (p.Thr14Val)	PIGQ (T14V)	Inversion (missense variant)	Epilepsy	GUncertain significance
Select item 2175277	NM_004204.5(PIGQ):c.1495C>T (p.Leu499=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2173296	NM_004204.5(PIGQ):c.284G>A (p.Arg95Gln)	PIGQ (R95Q)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance

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