ClinVar for MedGen (Select 894942) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245261	NC_000009.11:g.(?_130980490)_(130996406_?)del	DNM1	Deletion	Developmental and epileptic encephalopathy, 31	GPathogenic
Select item 3245260	NC_000009.11:g.(?_131016913)_(131016993_?)del	DNM1	Deletion	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 3245119	NC_000009.11:g.(?_130374683)_(131329276_?)del	AK1, BBLN +32 more	Deletion	Developmental and epileptic encephalopathy, 31 +1 more	GPathogenic
Select item 3241999	NM_004408.4(DNM1):c.1781+4C>T	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 3066193	NM_004408.4(DNM1):c.1335+1735A>G	DNM1 (D429G)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 3065559	NM_004408.4(DNM1):c.1207T>C (p.Phe403Leu)	DNM1 (F403L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 3065276	NM_004408.4(DNM1):c.2065A>G (p.Met689Val)	DNM1 (M689V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 3064533	NM_004408.4(DNM1):c.2121G>T (p.Ser707=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 3023596	NM_004408.4(DNM1):c.2537G>T (p.Arg846Leu)	DNM1 (R846L)	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 3023055	NM_004408.4(DNM1):c.2022C>T (p.Asn674=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 3022283	NM_004408.4(DNM1):c.2077-8A>G	DNM1, LOC130002697	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 3018718	NM_004408.4(DNM1):c.1422+5del	DNM1	Deletion (intron variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 3018717	NM_004408.4(DNM1):c.1404G>C (p.Glu468Asp)	DNM1 (E468D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 3017986	NM_004408.4(DNM1):c.2240C>T (p.Thr747Met)	DNM1 (T747M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 3014477	NM_004408.4(DNM1):c.767G>A (p.Arg256Gln)	DNM1 (R256Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 3011978	NM_004408.4(DNM1):c.385+8C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 3009478	NM_004408.4(DNM1):c.603C>G (p.Ile201Met)	DNM1 (I201M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 3000615	NM_004408.4(DNM1):c.993-13_993-11del	DNM1	Deletion (intron variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2997555	NM_004408.4(DNM1):c.1894-10G>A	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2996665	NM_004408.4(DNM1):c.689-11A>T	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2989013	NM_004408.4(DNM1):c.956C>T (p.Pro319Leu)	DNM1 (P319L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2982907	NM_004408.4(DNM1):c.1493+20A>G	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2975203	NM_004408.4(DNM1):c.688+13T>C	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2971442	NM_004408.4(DNM1):c.780C>G (p.Leu260=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2967997	NM_004408.4(DNM1):c.411G>A (p.Leu137=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2958432	NM_004408.4(DNM1):c.385+11T>C	LOC113839516, DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2915858	NM_004408.4(DNM1):c.11G>A (p.Arg4His)	CIZ1, DNM1 (R4H)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2915638	NM_004408.4(DNM1):c.2566G>A (p.Glu856Lys)	DNM1 (E856K)	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2915480	NM_004408.4(DNM1):c.33_34delinsAA (p.Leu12Met)	CIZ1, DNM1 (L12M)	Indel (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2915174	NM_004408.4(DNM1):c.1335+15C>G	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2914825	NM_004408.4(DNM1):c.1906-12T>C	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2913513	NM_004408.4(DNM1):c.1867G>T (p.Ala623Ser)	DNM1 (A623S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2913511	NM_004408.4(DNM1):c.235+18C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2913318	NM_004408.4(DNM1):c.963C>A (p.Asp321Glu)	DNM1 (D321E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2910934	NM_004408.4(DNM1):c.1781+9C>T	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2906821	NM_004408.4(DNM1):c.589+14C>G	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2900039	NM_004408.4(DNM1):c.2510A>T (p.Asn837Ile)	DNM1 (N837I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2897387	NM_004408.4(DNM1):c.1781+18G>C	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2893804	NM_004408.4(DNM1):c.2445G>T (p.Val815=)	DNM1, LOC130002699	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2880701	NM_004408.4(DNM1):c.1493+7G>A	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2880466	NM_004408.4(DNM1):c.1351C>T (p.Arg451Trp)	DNM1 (R451W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2876845	NM_004408.4(DNM1):c.1423-16C>T	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2876161	NM_004408.4(DNM1):c.1906-3C>T	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2876088	NM_004408.4(DNM1):c.1918G>C (p.Glu640Gln)	DNM1 (E640Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2873475	NM_004408.4(DNM1):c.992+3G>A	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2871656	NM_004408.4(DNM1):c.1987C>T (p.Arg663Trp)	DNM1 (R663W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2870760	NM_004408.4(DNM1):c.741C>T (p.Asp247=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2870706	NM_004408.4(DNM1):c.1352G>A (p.Arg451Gln)	DNM1 (R451Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2869477	NM_004408.4(DNM1):c.1372C>T (p.Arg458Cys)	DNM1 (R458C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2869199	NM_004408.4(DNM1):c.243C>A (p.Ala81=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2866713	NM_004408.4(DNM1):c.718_720del (p.Lys240del)	DNM1 (K240del)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2864051	NM_004408.4(DNM1):c.1012G>A (p.Val338Ile)	DNM1 (V338I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2863191	NM_004408.4(DNM1):c.1100A>C (p.His367Pro)	DNM1 (H367P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2862692	NM_004408.4(DNM1):c.2077-5C>G	DNM1, LOC130002697	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2859947	NM_004408.4(DNM1):c.560T>C (p.Leu187Pro)	DNM1, LOC113839516 (L187P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2859357	NM_004408.4(DNM1):c.1678G>C (p.Glu560Gln)	DNM1 (E560Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2859074	NM_004408.4(DNM1):c.385+18G>C	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2857118	NM_004408.4(DNM1):c.1782-3C>T	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2854004	NM_004408.4(DNM1):c.236-2A>C	DNM1, LOC113839516	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 31	GLikely pathogenic
Select item 2853299	NM_004408.4(DNM1):c.2544T>G (p.Gly848=)	DNM1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2851801	NM_004408.4(DNM1):c.1571G>T (p.Gly524Val)	DNM1 (G524V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2850971	NM_004408.4(DNM1):c.2251A>C (p.Ser751Arg)	DNM1 (S751R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2844066	NM_004408.4(DNM1):c.2469T>G (p.Pro823=)	DNM1, LOC130002699	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2843941	NM_004408.4(DNM1):c.1335+14C>T	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2843093	NM_004408.4(DNM1):c.2306C>G (p.Pro769Arg)	DNM1, LOC130002698 (P769R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2835434	NM_004408.4(DNM1):c.2455C>A (p.Pro819Thr)	DNM1, LOC130002699 (P819T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2832941	NM_004408.4(DNM1):c.1422+13G>A	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2828918	NM_004408.4(DNM1):c.745A>G (p.Thr249Ala)	DNM1 (T249A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2826338	NM_004408.4(DNM1):c.2375_2393del (p.Arg792fs)	DNM1, LOC130002698 (R792fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2826088	NM_004408.4(DNM1):c.2T>C (p.Met1Thr)	CIZ1, DNM1 (M1T)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2824795	NM_004408.4(DNM1):c.589+19G>A	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2824105	NM_004408.4(DNM1):c.2261T>C (p.Met754Thr)	DNM1, LOC130002698 (M754T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2822641	NM_004408.4(DNM1):c.2057T>C (p.Met686Thr)	DNM1 (M686T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2820542	NM_004408.4(DNM1):c.688+18C>T	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2818003	NM_004408.4(DNM1):c.224A>T (p.Asn75Ile)	DNM1, LOC113839516 (N75I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2817386	NM_004408.4(DNM1):c.2121G>A (p.Ser707=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2816896	NM_004408.4(DNM1):c.1565G>C (p.Arg522Pro)	DNM1 (R522P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2816526	NM_004408.4(DNM1):c.161+5_161+6delinsTT	CIZ1, DNM1	Indel (intron variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2812925	NM_004408.4(DNM1):c.2198A>G (p.His733Arg)	DNM1 (H733R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2812880	NM_004408.4(DNM1):c.801C>T (p.His267=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2807862	NM_004408.4(DNM1):c.435G>T (p.Val145=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2807859	NM_004408.4(DNM1):c.2319-9C>T	LOC130002698, DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2807227	NM_004408.4(DNM1):c.2106G>C (p.Leu702=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2801298	NM_004408.4(DNM1):c.176G>A (p.Arg59Gln)	DNM1, LOC113839516 (R59Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2800690	NM_004408.4(DNM1):c.1197-10G>A	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2800371	NM_004408.4(DNM1):c.1566C>T (p.Arg522=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2798351	NM_004408.4(DNM1):c.2170C>T (p.Arg724Trp)	DNM1 (R724W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2798057	NM_004408.4(DNM1):c.723C>T (p.Asp241=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2797778	NM_004408.4(DNM1):c.680T>G (p.Leu227Arg)	DNM1 (L227R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2796116	NM_004408.4(DNM1):c.2434G>A (p.Ala812Thr)	DNM1, LOC130002699 (A812T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2794331	NM_004408.4(DNM1):c.1401C>A (p.Arg467=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2794008	NM_004408.4(DNM1):c.2430G>C (p.Gly810=)	DNM1, LOC130002699	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2793001	NM_004408.4(DNM1):c.1782-13C>T	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2792996	NM_004408.4(DNM1):c.1885C>T (p.Arg629Cys)	DNM1 (R629C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2791208	NM_004408.4(DNM1):c.2241G>T (p.Thr747=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2788875	NM_004408.4(DNM1):c.1104G>A (p.Glu368=)	DNM1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2783638	NM_004408.4(DNM1):c.1545+18C>A	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2778141	NM_004408.4(DNM1):c.688+17C>T	DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2777557	NM_004408.4(DNM1):c.967G>T (p.Ala323Ser)	DNM1 (A323S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2775840	NM_004408.4(DNM1):c.2340G>A (p.Thr780=)	DNM1, LOC130002698	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign

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