ClinVar for Gene (Select 10483) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068498	NC_000020.10:g.16400000_24400000del	KIF16B, KIZ +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068497	NC_000020.10:g.18200000_22600000del	CFAP61, CRNKL1 +19 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3067441	NM_006363.6(SEC23B):c.678T>C (p.Phe226=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3064761	NM_006363.6(SEC23B):c.902G>A (p.Gly301Asp)	SEC23B (G283D +1 more)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II	GUncertain significance
Select item 3042560	NM_006363.6(SEC23B):c.222-84A>G	SEC23B	Single nucleotide variant (intron variant)	SEC23B-related condition	GLikely benign
Select item 3032453	NM_006363.6(SEC23B):c.2149-21TTG[6]	SEC23B	Microsatellite (intron variant)	SEC23B-related condition	GLikely benign
Select item 3031758	NM_006363.6(SEC23B):c.1287T>C (p.Asn429=)	SEC23B	Single nucleotide variant (synonymous variant)	SEC23B-related condition	GLikely benign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SLC24A3, SLC4A11 +164 more	Copy number gain	not provided	GPathogenic
Select item 2954455	NM_006363.6(SEC23B):c.2178A>C (p.Pro726=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2954370	NM_006363.6(SEC23B):c.222-19_222-17del	SEC23B	Microsatellite (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2954368	NM_006363.6(SEC23B):c.1906-18C>G	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2954155	NM_006363.6(SEC23B):c.666G>A (p.Gln222=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2953662	NM_006363.6(SEC23B):c.1744-17G>A	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GBenign
Select item 2953608	NM_006363.6(SEC23B):c.1020A>G (p.Thr340=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2953571	NM_006363.6(SEC23B):c.783A>G (p.Arg261=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2953423	NM_006363.6(SEC23B):c.584dup (p.Leu195fs)	LOC126862987, SEC23B (L177fs +1 more)	Duplication (frameshift variant)	Congenital dyserythropoietic anemia, type II +1 more	GPathogenic
Select item 2953396	NM_006363.6(SEC23B):c.1512-11G>A	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2953337	NM_006363.6(SEC23B):c.1992+17A>G	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2953099	NM_006363.6(SEC23B):c.105T>C (p.Val35=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2952990	NM_006363.6(SEC23B):c.1840C>T (p.Leu614=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2952986	NM_006363.6(SEC23B):c.1905+1G>A	SEC23B	Single nucleotide variant (splice donor variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely pathogenic
Select item 2952984	NM_006363.6(SEC23B):c.366+15G>C	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2952823	NM_006363.6(SEC23B):c.1992+8G>A	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2952714	NM_006363.6(SEC23B):c.489G>T (p.Leu163=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2952711	NM_006363.6(SEC23B):c.1905+10dup	SEC23B	Duplication (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2952508	NM_006363.6(SEC23B):c.2109G>A (p.Pro703=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2952301	NM_006363.6(SEC23B):c.2242G>C (p.Asp748His)	SEC23B (D748H +1 more)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II +1 more	GUncertain significance
Select item 2952249	NM_006363.6(SEC23B):c.280-12C>T	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2952195	NM_006363.6(SEC23B):c.1932T>C (p.Ile644=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2952054	NM_006363.6(SEC23B):c.1326T>C (p.Val442=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2952048	NM_006363.6(SEC23B):c.78C>T (p.Ser26=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2951874	NM_006363.6(SEC23B):c.888T>C (p.Pro296=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2951739	NM_006363.6(SEC23B):c.1744-16T>C	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2951707	NM_006363.6(SEC23B):c.1906-8_1906-7del	SEC23B	Deletion (intron variant)	Congenital dyserythropoietic anemia, type II +1 more	GLikely benign
Select item 2951476	NM_006363.6(SEC23B):c.573G>A (p.Gly191=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2951474	NM_006363.6(SEC23B):c.1906-18C>T	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2951473	NM_006363.6(SEC23B):c.337del (p.Gln113fs)	SEC23B (Q113fs)	Deletion (frameshift variant)	Cowden syndrome 7 +1 more	GPathogenic
Select item 2951155	NM_006363.6(SEC23B):c.1071T>C (p.Thr357=)	SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2951022	NM_006363.6(SEC23B):c.1109+1G>C	SEC23B	Single nucleotide variant (splice donor variant)	Cowden syndrome 7 +1 more	GLikely pathogenic
Select item 2950949	NM_006363.6(SEC23B):c.603+10T>C	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2950923	NM_006363.6(SEC23B):c.1506C>G (p.Ala502=)	SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2950690	NM_006363.6(SEC23B):c.645A>G (p.Gln215=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2950689	NM_006363.6(SEC23B):c.1660C>T (p.Arg554Ter)	SEC23B (R554* +1 more)	Single nucleotide variant (nonsense)	Cowden syndrome 7 +1 more	GPathogenic
Select item 2950656	NM_006363.6(SEC23B):c.369A>T (p.Arg123=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant +1 more)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2950409	NM_006363.6(SEC23B):c.366+18C>T	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2950381	NM_006363.6(SEC23B):c.1054T>C (p.Cys352Arg)	SEC23B (C352R +1 more)	Single nucleotide variant (missense variant)	Cowden syndrome 7 +1 more	GUncertain significance
Select item 2950328	NM_006363.6(SEC23B):c.2214+13_2214+14del	SEC23B	Deletion (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2950282	NM_006363.6(SEC23B):c.879A>G (p.Gly293=)	SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2950125	NM_006363.6(SEC23B):c.604-6_604-4del	LOC126862987, SEC23B	Deletion (intron variant)	Cowden syndrome 7 +1 more	GBenign
Select item 2950074	NM_006363.6(SEC23B):c.1511+2_1511+5del	SEC23B	Deletion (splice donor variant)	Cowden syndrome 7 +1 more	GLikely pathogenic
Select item 2949748	NM_006363.6(SEC23B):c.222-4A>G	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2949554	NM_006363.6(SEC23B):c.1315-16C>T	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2949471	NM_006363.6(SEC23B):c.606T>C (p.Asp202=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2949147	NM_006363.6(SEC23B):c.300C>T (p.Gly100=)	SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2949145	NM_006363.6(SEC23B):c.221+163A>G	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2948857	NM_006363.6(SEC23B):c.195T>C (p.Thr65=)	SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2948761	NM_006363.6(SEC23B):c.2148+7G>A	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2948456	NM_006363.6(SEC23B):c.2214+15G>A	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2948437	NM_006363.6(SEC23B):c.1831del (p.Arg611fs)	SEC23B (R611fs +1 more)	Deletion (frameshift variant)	Cowden syndrome 7 +1 more	GPathogenic
Select item 2948326	NM_006363.6(SEC23B):c.24C>T (p.Ile8=)	SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2948278	NM_006363.6(SEC23B):c.1053T>C (p.Ala351=)	SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2948113	NM_006363.6(SEC23B):c.604-11_604-10insC	LOC126862987, SEC23B	Insertion (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2947973	NM_006363.6(SEC23B):c.1905+8T>G	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2947908	NM_006363.6(SEC23B):c.1314+12A>T	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2947817	NM_006363.6(SEC23B):c.408C>T (p.Asp136=)	SEC23B, LOC126862987	Single nucleotide variant (synonymous variant +1 more)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2947757	NM_006363.6(SEC23B):c.1660C>A (p.Arg554=)	SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2947721	NM_006363.6(SEC23B):c.1906-11T>C	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2947690	NM_006363.6(SEC23B):c.954T>C (p.Ile318=)	SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2947557	NM_006363.6(SEC23B):c.689+7G>T	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2947484	NM_006363.6(SEC23B):c.897G>C (p.Gly299=)	SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2947456	NM_006363.6(SEC23B):c.1222T>C (p.Leu408=)	SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2947407	NM_006363.6(SEC23B):c.1906-18_1906-14del	SEC23B	Deletion (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2947264	NM_006363.6(SEC23B):c.528T>C (p.His176=)	SEC23B, LOC126862987	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2947216	NM_006363.6(SEC23B):c.2130G>A (p.Thr710=)	SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2947132	NM_006363.6(SEC23B):c.732T>C (p.Asp244=)	SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2947129	NM_006363.6(SEC23B):c.1906-7T>C	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2946835	NM_006363.6(SEC23B):c.280-13T>G	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2946685	NM_006363.6(SEC23B):c.1315-8A>G	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2946684	NM_006363.6(SEC23B):c.1521T>C (p.Asp507=)	SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2946593	NM_006363.6(SEC23B):c.2202T>A (p.Tyr734Ter)	SEC23B (Y734* +1 more)	Single nucleotide variant (nonsense)	Cowden syndrome 7 +1 more	GPathogenic
Select item 2946552	NM_006363.6(SEC23B):c.280-20_280-14del	SEC23B	Deletion (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2946484	NM_006363.6(SEC23B):c.1993-6G>C	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2946434	NM_006363.6(SEC23B):c.834+17C>G	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2946424	NM_006363.6(SEC23B):c.367-1G>T	LOC126862987, SEC23B	Single nucleotide variant (splice acceptor variant +1 more)	Cowden syndrome 7 +1 more	GLikely pathogenic
Select item 2946323	NM_006363.6(SEC23B):c.1512-5G>A	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2946186	NM_006363.6(SEC23B):c.2215-19C>T	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2946021	NM_006363.6(SEC23B):c.294T>C (p.Tyr98=)	SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2945997	NM_006363.6(SEC23B):c.993+8C>G	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2945996	NM_006363.6(SEC23B):c.450C>T (p.Ser150=)	SEC23B, LOC126862987	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2945948	NM_006363.6(SEC23B):c.2233C>T (p.Leu745=)	SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2945906	NM_006363.6(SEC23B):c.689+14A>T	SEC23B, LOC126862987	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2945849	NM_006363.6(SEC23B):c.564C>A (p.Val188=)	LOC126862987, SEC23B	Single nucleotide variant (synonymous variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2945842	NM_006363.6(SEC23B):c.994-20T>A	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2945541	NM_006363.6(SEC23B):c.222-15T>A	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2945511	NM_006363.6(SEC23B):c.1234-20C>T	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2945496	NM_006363.6(SEC23B):c.983dup (p.Ala329fs)	SEC23B (A329fs +1 more)	Duplication (frameshift variant)	Cowden syndrome 7 +1 more	GPathogenic
Select item 2945146	NM_006363.6(SEC23B):c.1993-20G>A	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2944994	NM_006363.6(SEC23B):c.1314+1G>A	SEC23B	Single nucleotide variant (splice donor variant)	Cowden syndrome 7 +1 more	GLikely pathogenic
Select item 2944885	NM_006363.6(SEC23B):c.366+11T>C	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign
Select item 2944871	NM_006363.6(SEC23B):c.604-19T>G	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +1 more	GLikely benign

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