ClinVar for MedGen (Select 462338) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023662	NM_015192.4(PLCB1):c.3336+18G>T	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 3020892	NM_007254.4(PNKP):c.1188+12C>G	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 3018997	NM_015192.4(PLCB1):c.1764-7G>T	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 3018961	NM_015192.4(PLCB1):c.2901A>G (p.Glu967=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 3018651	NM_015192.4(PLCB1):c.2538A>G (p.Glu846=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 3014474	NM_007254.4(PNKP):c.937-7C>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 3007387	NM_007254.4(PNKP):c.817-4G>C	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 3003586	NM_007254.4(PNKP):c.578+11G>A	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 3003497	NM_015192.4(PLCB1):c.2082G>T (p.Gly694=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2998497	NM_007254.4(PNKP):c.1296_1298+13del	PNKP	Deletion (splice donor variant)	Developmental and epileptic encephalopathy, 12	GLikely pathogenic
Select item 2997895	NM_015192.4(PLCB1):c.1218A>G (p.Pro406=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2997130	NM_007254.4(PNKP):c.793A>G (p.Met265Val)	PNKP (M265V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 2994500	NM_015192.4(PLCB1):c.3423+18A>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2990517	NM_015192.4(PLCB1):c.99+19C>T	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2987023	NM_007254.4(PNKP):c.429A>C (p.Ser143=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2986868	NM_007254.4(PNKP):c.1030-16C>A	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2979734	NM_007254.4(PNKP):c.1449-8_1449-6del	PNKP	Deletion (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2975074	NM_007254.4(PNKP):c.817-15T>C	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2974815	NM_007254.4(PNKP):c.1127-7C>A	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2959598	NM_015192.4(PLCB1):c.2657-10T>A	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2956232	NM_007254.4(PNKP):c.1265_1289dup (p.Ser430fs)	PNKP (S430fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 12	GPathogenic
Select item 2920501	NM_007254.4(PNKP):c.27C>T (p.Arg9=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2917143	NM_007254.4(PNKP):c.1449-9C>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2916389	NM_007254.4(PNKP):c.1323G>T (p.Ala441=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2916245	NM_015192.4(PLCB1):c.862+18C>T	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2914961	NM_007254.4(PNKP):c.54A>G (p.Gly18=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2914245	NM_007254.4(PNKP):c.1560G>A (p.Glu520=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2913305	NM_007254.4(PNKP):c.1395G>A (p.Glu465=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2909686	NM_007254.4(PNKP):c.28T>C (p.Leu10=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2909238	NM_015192.4(PLCB1):c.2711-9T>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2908611	NM_015192.4(PLCB1):c.247-13A>G	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2907828	NM_015192.4(PLCB1):c.3094C>T (p.Arg1032Ter)	PLCB1 (R1032*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 12	GPathogenic
Select item 2907275	NM_007254.4(PNKP):c.1264G>C (p.Asp422His)	PNKP (D422H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 2905860	NM_015192.4(PLCB1):c.2308+10G>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2904354	NM_007254.4(PNKP):c.865+17T>C	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2903708	NM_015192.4(PLCB1):c.3411T>C (p.Asp1137=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2899643	NM_007254.4(PNKP):c.817-17A>C	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2898963	NM_007254.4(PNKP):c.1189-13C>G	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2897403	NM_007254.4(PNKP):c.1017A>T (p.Pro339=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2897316	NM_015192.4(PLCB1):c.1251-12G>T	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2894713	NM_007254.4(PNKP):c.126G>C (p.Thr42=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2894055	NM_007254.4(PNKP):c.937-13C>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2891471	NM_015192.4(PLCB1):c.2308+11T>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2890567	NM_015192.4(PLCB1):c.3336+18G>A	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2890550	NM_007254.4(PNKP):c.637-14C>A	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2889999	NM_007254.4(PNKP):c.609C>G (p.Leu203=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2887834	NM_007254.4(PNKP):c.1448+5_1448+8dup	PNKP	Duplication (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2887129	NM_007254.4(PNKP):c.817-20_817-18del	PNKP	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2886073	NM_015192.4(PLCB1):c.1168-17T>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2885652	NM_015192.4(PLCB1):c.1168-20A>G	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2881759	NM_007254.4(PNKP):c.936+4_936+10dup	PNKP	Duplication (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2881388	NM_015192.4(PLCB1):c.2043+10C>A	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2879840	NM_007254.4(PNKP):c.1127-19G>A	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2878942	NM_015192.4(PLCB1):c.3477C>A (p.Leu1159=)	PLCB1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2878312	NM_007254.4(PNKP):c.6C>T (p.Gly2=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2875590	NM_007254.4(PNKP):c.48T>A (p.Pro16=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2875010	NM_015192.4(PLCB1):c.1746T>G (p.Ser582=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2871565	NM_015192.4(PLCB1):c.2079T>C (p.Val693=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2871469	NM_007254.4(PNKP):c.1448+14T>C	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2870378	NM_007254.4(PNKP):c.1030-8C>G	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2860838	NM_015192.4(PLCB1):c.2523+17A>G	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2858876	NM_015192.4(PLCB1):c.2711-11A>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2858197	NM_007254.4(PNKP):c.499-9T>C	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +1 more	GLikely benign
Select item 2856615	NM_007254.4(PNKP):c.1387-43C>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2854031	NM_007254.4(PNKP):c.983_986del (p.Phe328fs)	PNKP (F328fs)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 12	GPathogenic
Select item 2853325	NM_007254.4(PNKP):c.1332C>G (p.Pro444=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2851753	NM_007254.4(PNKP):c.1428C>T (p.Asp476=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2848997	NM_007254.4(PNKP):c.1482C>G (p.Gly494=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2847908	NM_007254.4(PNKP):c.744+18G>A	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2844022	NM_015192.4(PLCB1):c.2607C>T (p.Thr869=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2843047	NM_015192.4(PLCB1):c.2442C>A (p.Ile814=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2841574	NM_015192.4(PLCB1):c.3114T>C (p.Leu1038=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2841009	NM_015192.4(PLCB1):c.1679-20T>G	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2839788	NM_015192.4(PLCB1):c.3072T>C (p.Tyr1024=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2837184	NM_015192.4(PLCB1):c.2413+20T>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2835049	NM_015192.4(PLCB1):c.252C>A (p.Pro84=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2833684	NM_007254.4(PNKP):c.1386+40C>G	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2832193	NM_015192.4(PLCB1):c.885C>T (p.Phe295=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2829218	NM_015192.4(PLCB1):c.1888+1G>A	PLCB1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 12	GLikely pathogenic
Select item 2828262	NM_015192.4(PLCB1):c.1514-1G>A	PLCB1	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 12	GLikely pathogenic
Select item 2827511	NM_007254.4(PNKP):c.762_765del (p.His254fs)	PNKP (H254fs)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 12	GPathogenic
Select item 2827499	NM_007254.4(PNKP):c.1189-16C>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2827485	NM_007254.4(PNKP):c.1497G>T (p.Leu499=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2824324	NM_015192.4(PLCB1):c.1336-13dup	PLCB1	Duplication (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2823586	NM_007254.4(PNKP):c.865+1G>T	PNKP	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 12	GLikely pathogenic
Select item 2822715	NM_015192.4(PLCB1):c.1179A>G (p.Glu393=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2821022	NM_007254.4(PNKP):c.1448+11G>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2818179	NM_015192.4(PLCB1):c.3249T>G (p.Ala1083=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2816410	NM_007254.4(PNKP):c.801C>T (p.Asp267=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2814491	NM_007254.4(PNKP):c.112del (p.Pro37_Leu38insTer)	PNKP	Deletion (nonsense)	Developmental and epileptic encephalopathy, 12	GPathogenic
Select item 2814243	NM_007254.4(PNKP):c.807G>A (p.Leu269=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2814164	NM_007254.4(PNKP):c.1449-12C>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2811424	NM_007254.4(PNKP):c.1127-19G>C	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2809636	NM_007254.4(PNKP):c.1296C>G (p.Ala432=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2806283	NM_007254.4(PNKP):c.1360C>T (p.Leu454=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2806277	NM_007254.4(PNKP):c.1386+41C>G	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2805020	NM_007254.4(PNKP):c.1179C>T (p.His393=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2801335	NM_015192.4(PLCB1):c.177+13G>A	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2799900	NM_007254.4(PNKP):c.1014C>T (p.Leu338=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2799698	NM_015192.4(PLCB1):c.384+17T>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign

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