ClinVar for Gene (Select 23236) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341307	NM_015192.4(PLCB1):c.928G>A (p.Glu310Lys)	PLCB1 (E310K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3341306	NM_015192.4(PLCB1):c.73G>A (p.Gly25Ser)	PLCB1 (G25S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3338444	GRCh37/hg19 20p12.3-12.1(chr20:5454270-13610745)x1	ANKEF1, BMP2 +22 more	Copy number loss	Congenital myasthenic syndrome 18	GLikely pathogenic
Select item 3337477	NM_015192.4(PLCB1):c.2668G>T (p.Ala890Ser)	PLCB1 (A890S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3307311	NM_015192.4(PLCB1):c.3629A>C (p.Lys1210Thr)	PLCB1 (K1210T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3307310	NM_015192.4(PLCB1):c.3007C>G (p.Gln1003Glu)	PLCB1 (Q1003E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257285	NM_015192.4(PLCB1):c.2443C>T (p.Arg815Ter)	PLCB1 (R815*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3255306	NM_015192.4(PLCB1):c.3423+1733G>A	PLCB1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255287	NM_015192.4(PLCB1):c.3423+1853G>A	PLCB1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255276	NM_015192.4(PLCB1):c.3423+2387T>C	PLCB1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255269	NM_015192.4(PLCB1):c.3423+1966T>C	PLCB1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255240	NM_015192.4(PLCB1):c.3423+1929C>A	PLCB1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255230	NM_015192.4(PLCB1):c.3423+2247C>T	PLCB1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3248296	NC_000020.10:g.(?_8661338)_(8678351_?)del	PLCB1	Deletion	Developmental and epileptic encephalopathy, 12	GLikely pathogenic
Select item 3248295	NC_000020.10:g.(?_8665559)_(8770928_?)dup	PLCB1	Duplication	Developmental and epileptic encephalopathy, 12	GLikely pathogenic
Select item 3248294	NC_000020.10:g.(?_8113299)_(8352117_?)del	PLCB1	Deletion	Developmental and epileptic encephalopathy, 12	GPathogenic
Select item 3248283	NC_000020.10:g.(?_7812350)_(10654278_?)del	ANKEF1, HAO1 +9 more	Deletion	Alagille syndrome due to a JAG1 point mutation +1 more	GPathogenic
Select item 3214375	NM_015192.4(PLCB1):c.940T>G (p.Leu314Val)	PLCB1 (L314V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214374	NM_015192.4(PLCB1):c.3178A>G (p.Ile1060Val)	PLCB1 (I1060V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214373	NM_015192.4(PLCB1):c.2946C>G (p.Ser982Arg)	PLCB1 (S982R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214371	NM_015192.4(PLCB1):c.1540G>A (p.Asp514Asn)	PLCB1 (D514N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214370	NM_015192.4(PLCB1):c.1511C>T (p.Ala504Val)	PLCB1 (A504V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214369	NM_015192.4(PLCB1):c.1309C>G (p.Leu437Val)	PLCB1 (L437V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067756	NM_015192.4(PLCB1):c.1923A>G (p.Glu641=)	PLCB1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3062400	GRCh37/hg19 20p12.3-12.2(chr20:7856703-11991178)x1	ANKEF1, BTBD3 +10 more	Copy number loss	not specified	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +114 more	Copy number gain	not provided	GPathogenic
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 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 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 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 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 2959598	NM_015192.4(PLCB1):c.2657-10T>A	PLCB1	Single nucleotide variant (intron 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 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 2905860	NM_015192.4(PLCB1):c.2308+10G>C	PLCB1	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 2897316	NM_015192.4(PLCB1):c.1251-12G>T	PLCB1	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 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 2881388	NM_015192.4(PLCB1):c.2043+10C>A	PLCB1	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 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 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 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 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 2824324	NM_015192.4(PLCB1):c.1336-13dup	PLCB1	Duplication (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
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 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 2801335	NM_015192.4(PLCB1):c.177+13G>A	PLCB1	Single nucleotide variant (intron 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
Select item 2798897	NM_015192.4(PLCB1):c.862+1G>A	PLCB1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 12	GLikely pathogenic
Select item 2795384	NM_015192.4(PLCB1):c.1653G>A (p.Lys551=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2793218	NM_015192.4(PLCB1):c.1678+14G>A	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2781538	NM_015192.4(PLCB1):c.2656+20C>G	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2777796	NM_015192.4(PLCB1):c.1587T>C (p.Thr529=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2769276	NM_015192.4(PLCB1):c.492T>C (p.Thr164=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2766367	NM_015192.4(PLCB1):c.1251-12G>A	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2756834	NM_015192.4(PLCB1):c.420C>T (p.Asn140=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2754269	NM_015192.4(PLCB1):c.2796C>T (p.Asp932=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2752885	NM_015192.4(PLCB1):c.1281C>T (p.Tyr427=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2743659	NM_015192.4(PLCB1):c.1938T>C (p.Ser646=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2741814	NM_015192.4(PLCB1):c.2524-17G>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2740432	NM_015192.4(PLCB1):c.3364G>A (p.Glu1122Lys)	PLCB1 (E1122K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 2732893	NM_015192.4(PLCB1):c.2457G>A (p.Leu819=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2729727	NM_015192.4(PLCB1):c.1401G>A (p.Lys467=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2725598	NM_015192.4(PLCB1):c.2657-10T>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2723961	NM_015192.4(PLCB1):c.285C>T (p.Ile95=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2712470	NM_015192.4(PLCB1):c.3537C>T (p.His1179=)	PLCB1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2708675	NM_015192.4(PLCB1):c.595-14_595-12del	PLCB1	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2708260	NM_015192.4(PLCB1):c.1582-11C>A	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2706354	NM_015192.4(PLCB1):c.1449A>G (p.Ser483=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2703494	NM_015192.4(PLCB1):c.3188+16C>T	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2698978	NM_015192.4(PLCB1):c.518+14G>A	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2697081	NM_015192.4(PLCB1):c.1902A>G (p.Gln634=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2694262	NM_015192.4(PLCB1):c.465-13G>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2692993	NM_015192.4(PLCB1):c.204T>G (p.Leu68=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2685640	GRCh37/hg19 20p12.3(chr20:7106058-8573589)x1	HAO1, PLCB1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684902	GRCh37/hg19 20p12.3-12.2(chr20:8695257-9285462)x3	PLCB1, PLCB4	Copy number gain	not provided	GUncertain significance
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2672875	NM_015192.4(PLCB1):c.921T>G (p.Val307=)	PLCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652199	NM_015192.4(PLCB1):c.3549T>G (p.Pro1183=)	PLCB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2614791	NM_015192.4(PLCB1):c.559A>G (p.Thr187Ala)	PLCB1 (T187A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 10