ClinVar for MedGen (Select 863832) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338649	NM_052874.5(STX1B):c.626G>A (p.Arg209His)	STX1B (R209H)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 3243531	NC_000016.9:g.(?_31003278)_(31004694_?)del	STX1B	Deletion	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 3243530	NC_000016.9:g.(?_31008252)_(31012944_?)dup	STX1B	Duplication	Generalized epilepsy with febrile seizures plus, type 9	GLikely pathogenic
Select item 3066028	NC_000016.10:g.30996672_31010406del	LOC130058887, STX1B	Deletion	Generalized epilepsy with febrile seizures plus, type 9	GPathogenic
Select item 3014763	NM_052874.5(STX1B):c.787-15C>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 3003401	NM_052874.5(STX1B):c.355-19C>A	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 3002971	NM_052874.5(STX1B):c.120G>C (p.Arg40=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2994647	NM_052874.5(STX1B):c.482A>G (p.Asn161Ser)	STX1B (N161S)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2989188	NM_052874.5(STX1B):c.-15_-4dup	STX1B	Duplication (inframe_insertion +1 more)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2979988	NM_052874.5(STX1B):c.432C>T (p.Cys144=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2967005	NM_052874.5(STX1B):c.11G>A (p.Arg4Gln)	STX1B (R4Q)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2964493	NM_052874.5(STX1B):c.676-6C>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2958123	NM_052874.5(STX1B):c.31-19C>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2912255	NM_052874.5(STX1B):c.538-11C>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2905620	NM_052874.5(STX1B):c.74G>A (p.Arg25Gln)	STX1B (R25Q)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2905391	NM_052874.5(STX1B):c.372G>C (p.Arg124=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2902352	NM_052874.5(STX1B):c.114G>A (p.Glu38=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2895970	NM_052874.5(STX1B):c.30+8T>G	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2871647	NM_052874.5(STX1B):c.31-15C>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2864828	NM_052874.5(STX1B):c.366del (p.Ser123fs)	STX1B (S123fs)	Deletion (frameshift variant)	Generalized epilepsy with febrile seizures plus, type 9	GPathogenic
Select item 2857309	NM_052874.5(STX1B):c.537+3G>C	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2849088	NM_052874.5(STX1B):c.338_354+15del	STX1B	Deletion (splice donor variant)	Generalized epilepsy with febrile seizures plus, type 9	GPathogenic
Select item 2844145	NM_052874.5(STX1B):c.687T>C (p.Ile229=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2842296	NM_052874.5(STX1B):c.538-18T>C	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2835625	NM_052874.5(STX1B):c.30+1G>A	STX1B	Single nucleotide variant (splice donor variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely pathogenic
Select item 2826097	NM_052874.5(STX1B):c.281C>T (p.Ala94Val)	STX1B (A94V)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2826092	NM_052874.5(STX1B):c.540C>G (p.Ile180Met)	STX1B (I180M)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2813188	NM_052874.5(STX1B):c.39del (p.Asp13fs)	STX1B (D13fs)	Deletion (frameshift variant)	Generalized epilepsy with febrile seizures plus, type 9	GPathogenic
Select item 2811860	NM_052874.5(STX1B):c.786+1G>T	STX1B	Single nucleotide variant (splice donor variant)	Generalized epilepsy with febrile seizures plus, type 9	GPathogenic
Select item 2808202	NM_052874.5(STX1B):c.340_354+123del	LOC130058887, STX1B	Deletion (splice donor variant)	Generalized epilepsy with febrile seizures plus, type 9	GPathogenic
Select item 2802072	NM_052874.5(STX1B):c.106-20T>G	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2799801	NM_052874.5(STX1B):c.313C>G (p.Leu105Val)	STX1B (L105V)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2799493	NM_052874.5(STX1B):c.296T>C (p.Ile99Thr)	STX1B (I99T)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2798657	NM_052874.5(STX1B):c.787-13_787-12del	STX1B	Microsatellite (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2798563	NM_052874.5(STX1B):c.612G>A (p.Leu204=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2795958	NM_052874.5(STX1B):c.201T>G (p.Asp67Glu)	STX1B (D67E)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2789370	NM_052874.5(STX1B):c.463+15del	STX1B	Deletion (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GBenign
Select item 2781775	NM_052874.5(STX1B):c.30+14T>G	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2759785	NM_052874.5(STX1B):c.106-16C>G	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2758119	NM_052874.5(STX1B):c.537+15G>A	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2753692	NM_052874.5(STX1B):c.510C>G (p.Ser170Arg)	STX1B (S170R)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2748620	NM_052874.5(STX1B):c.815del (p.Val272fs)	STX1B (V272fs)	Deletion (frameshift variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2747341	NM_052874.5(STX1B):c.464-4G>A	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2732887	NM_052874.5(STX1B):c.504G>A (p.Leu168=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2731968	NM_052874.5(STX1B):c.537+10G>C	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2731340	NM_052874.5(STX1B):c.463+15C>A	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2729708	NM_052874.5(STX1B):c.538-7_538-6insG	STX1B	Insertion (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2721715	NM_052874.5(STX1B):c.144G>A (p.Glu48=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2718754	NM_052874.5(STX1B):c.355-1_355delinsAA	STX1B	Indel (splice acceptor variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely pathogenic
Select item 2710810	NM_052874.5(STX1B):c.355-1G>A	STX1B	Single nucleotide variant (splice acceptor variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely pathogenic
Select item 2706014	NM_052874.5(STX1B):c.474C>A (p.Thr158=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2702812	NM_052874.5(STX1B):c.675+17C>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2697274	NM_052874.5(STX1B):c.696C>G (p.Ile232Met)	STX1B (I232M)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2693581	NM_052874.5(STX1B):c.280+18T>G	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2693031	NM_052874.5(STX1B):c.786+1G>A	STX1B	Single nucleotide variant (splice donor variant)	Generalized epilepsy with febrile seizures plus, type 9	GPathogenic
Select item 2582440	NM_052874.5(STX1B):c.127A>T (p.Ile43Phe)	STX1B (I43F)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2580086	NM_052874.5(STX1B):c.446A>G (p.Gln149Arg)	STX1B (Q149R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2576582	NM_052874.5(STX1B):c.354+1G>C	STX1B	Single nucleotide variant (splice donor variant)	Generalized epilepsy with febrile seizures plus, type 9	GPathogenic
Select item 2574119	NM_052874.5(STX1B):c.682A>G (p.Met228Val)	HSD3B7, STX1B (M228V)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2436511	NM_052874.5(STX1B):c.632T>C (p.Leu211Pro)	STX1B (L211P)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2436510	NM_052874.5(STX1B):c.30+3G>C	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2431491	NM_052874.5(STX1B):c.315_321dup (p.Ser108fs)	STX1B (S108fs)	Duplication (frameshift variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely pathogenic
Select item 2430250	NM_052874.5(STX1B):c.345dup (p.Lys116fs)	STX1B (K116fs)	Duplication (frameshift variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely pathogenic
Select item 2427156	NC_000016.9:g.(?_30712146)_(31021717_?)dup	BCL7C, CFAP119 +10 more	Duplication	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2198527	NM_052874.5(STX1B):c.676-7_676-4del	STX1B	Microsatellite (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2195526	NM_052874.5(STX1B):c.31-20T>C	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2185257	NM_052874.5(STX1B):c.69G>A (p.Val23=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2178118	NM_052874.5(STX1B):c.141G>A (p.Ser47=)	STX1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2170060	NM_052874.5(STX1B):c.438C>T (p.Asp146=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2168121	NM_052874.5(STX1B):c.570G>A (p.Ala190=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2160076	NM_052874.5(STX1B):c.537+16G>C	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2154098	NM_052874.5(STX1B):c.30+19A>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2147823	NM_052874.5(STX1B):c.675+11T>C	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2134259	NM_052874.5(STX1B):c.151G>A (p.Glu51Lys)	STX1B (E51K)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2131673	NM_052874.5(STX1B):c.491T>C (p.Leu164Pro)	STX1B (L164P)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2129852	NM_052874.5(STX1B):c.281-13C>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2125999	NM_052874.5(STX1B):c.622A>G (p.Ile208Val)	STX1B (I208V)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2125693	NM_052874.5(STX1B):c.538-19C>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2117136	NM_052874.5(STX1B):c.537+13T>G	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2104771	NM_052874.5(STX1B):c.464-20G>C	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2103911	NM_052874.5(STX1B):c.555G>A (p.Gln185=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2087125	NM_052874.5(STX1B):c.142G>C (p.Glu48Gln)	STX1B (E48Q)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2080039	NM_052874.5(STX1B):c.161A>G (p.Lys54Arg)	STX1B (K54R)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2063198	NM_052874.5(STX1B):c.106-6C>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2044948	NM_052874.5(STX1B):c.854C>T (p.Thr285Met)	STX1B (T285M)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2026255	NM_052874.5(STX1B):c.206-7C>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2018442	NM_052874.5(STX1B):c.534T>C (p.Asp178=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2008812	NM_052874.5(STX1B):c.676-8G>A	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 2001459	NM_052874.5(STX1B):c.676-17G>A	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 1987880	NM_052874.5(STX1B):c.327C>G (p.Ser109=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 1977796	NM_052874.5(STX1B):c.281-11C>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 1960390	NM_052874.5(STX1B):c.561G>A (p.Thr187=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9	GLikely benign
Select item 1925818	NM_052874.5(STX1B):c.781C>T (p.Arg261Trp)	STX1B (R261W)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 1803076	NM_052874.5(STX1B):c.655_660dup (p.Met220_Leu221insAlaMet)	STX1B	Duplication (inframe_insertion)	Generalized epilepsy with febrile seizures plus, type 9	GLikely pathogenic
Select item 1740951	NM_052874.5(STX1B):c.448C>T (p.Arg150Trp)	STX1B (R150W)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9 +1 more	GUncertain significance
Select item 1719341	NM_052874.5(STX1B):c.798G>C (p.Met266Ile)	STX1B (M266I)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 1718286	NM_052874.5(STX1B):c.619A>G (p.Ser207Gly)	STX1B (S207G)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 1715311	NM_052874.5(STX1B):c.479C>T (p.Thr160Ile)	STX1B (T160I)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 1714461	NM_052874.5(STX1B):c.4A>G (p.Lys2Glu)	STX1B (K2E)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 1693661	NM_052874.5(STX1B):c.463+5G>T	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9 +1 more	GConflicting classifications of pathogenicity

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