ClinVar for Gene (Select 221927) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1260

<< First< Prev

Page of 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245808	NC_000007.13:g.(?_2559496)_(2998140_?)del	AMZ1, BRAT1 +5 more	Deletion	BENTA disease +1 more	GPathogenic
Select item 3245802	NC_000007.13:g.(?_2580991)_(2581540_?)del	BRAT1	Deletion	Neonatal-onset encephalopathy with rigidity and seizures	GLikely pathogenic
Select item 3245801	NC_000007.14:g.(?_2554305)_(2554431_?)del	BRAT1	Deletion	Neonatal-onset encephalopathy with rigidity and seizures	GPathogenic
Select item 3245799	NC_000007.13:g.(?_2577703)_(2594065_?)del	BRAT1	Deletion	Neonatal-onset encephalopathy with rigidity and seizures	GPathogenic
Select item 3239496	NM_152743.4(BRAT1):c.818G>C (p.Ser273Thr)	BRAT1 (S273T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3237455	NM_152743.4(BRAT1):c.1527_1533del (p.Cys510fs)	BRAT1 (C335fs +1 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GPathogenic
Select item 3237454	NM_152743.4(BRAT1):c.88G>A (p.Glu30Lys)	BRAT1 (E30K)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GUncertain significance
Select item 3134926	NM_152743.4(BRAT1):c.989C>A (p.Ala330Asp)	BRAT1 (A330D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134925	NM_152743.4(BRAT1):c.988G>A (p.Ala330Thr)	BRAT1 (A155T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134924	NM_152743.4(BRAT1):c.281A>G (p.Gln94Arg)	BRAT1 (Q94R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3134923	NM_152743.4(BRAT1):c.1615T>G (p.Cys539Gly)	BRAT1 (C364G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3134922	NM_152743.4(BRAT1):c.1049C>T (p.Thr350Met)	BRAT1 (T175M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068229	NM_152743.4(BRAT1):c.1829G>A (p.Arg610Gln)	BRAT1 (R435Q +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 3065201	NM_152743.4(BRAT1):c.1541G>A (p.Trp514Ter)	BRAT1 (W339* +1 more)	Single nucleotide variant (nonsense +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 3065081	NM_152743.4(BRAT1):c.1771-7_1777del	BRAT1 (Q650fs)	Deletion (frameshift variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 3063773	NM_152743.4(BRAT1):c.457C>T (p.Gln153Ter)	BRAT1 (Q153*)	Single nucleotide variant (nonsense +2 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GPathogenic
Select item 3062980	GRCh37/hg19 7p22.3-22.2(chr7:2163435-2987198)x3	AMZ1, BRAT1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 3062963	GRCh37/hg19 7p22.3-22.2(chr7:2088540-3127784)x3	AMZ1, BRAT1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 3052936	NM_152743.4(BRAT1):c.1771-70C>T	BRAT1	Single nucleotide variant (synonymous variant +1 more)	BRAT1-related disorder	GLikely benign
Select item 3052859	NM_152743.4(BRAT1):c.1569C>T (p.Phe523=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	BRAT1-related disorder	GLikely benign
Select item 3043914	NM_152743.4(BRAT1):c.1771-118G>A	BRAT1	Single nucleotide variant (synonymous variant +1 more)	BRAT1-related disorder	GLikely benign
Select item 3032098	NM_152743.4(BRAT1):c.1771-142C>T	BRAT1	Single nucleotide variant (synonymous variant +1 more)	BRAT1-related disorder	GLikely benign
Select item 3021599	NM_152743.4(BRAT1):c.1322-18C>T	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 3021344	NM_152743.4(BRAT1):c.1135-14C>T	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 3015615	NM_152743.4(BRAT1):c.1016-20C>G	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 3008686	NM_152743.4(BRAT1):c.1962C>T (p.Gly654=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 3000812	NM_152743.4(BRAT1):c.1401G>A (p.Leu467=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2997108	NM_152743.4(BRAT1):c.1321+14G>C	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2994934	NM_152743.4(BRAT1):c.1498+20G>T	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2993726	NM_152743.4(BRAT1):c.729C>G (p.Arg243=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2991514	NM_152743.4(BRAT1):c.1780del (p.Leu594fs)	BRAT1 (L594fs +2 more)	Deletion (frameshift variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GPathogenic
Select item 2990969	NM_152743.4(BRAT1):c.1248_1249del (p.Cys416fs)	BRAT1 (C241fs +1 more)	Microsatellite (frameshift variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GPathogenic
Select item 2990346	NM_152743.4(BRAT1):c.2334C>A (p.Ser778=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2990206	NM_152743.4(BRAT1):c.2049C>T (p.Ala683=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2983790	NM_152743.4(BRAT1):c.963C>T (p.Leu321=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2983705	NM_152743.4(BRAT1):c.1578G>A (p.Gln526=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2980123	NM_152743.4(BRAT1):c.1446del (p.Lys483fs)	BRAT1 (K483fs +1 more)	Deletion (frameshift variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GPathogenic
Select item 2971440	NM_152743.4(BRAT1):c.1260G>A (p.Ala420=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2962591	NM_152743.4(BRAT1):c.915C>T (p.Leu305=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2915855	NM_152743.4(BRAT1):c.2304G>A (p.Glu768=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2913585	NM_152743.4(BRAT1):c.1395+17dup	BRAT1	Duplication (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2910614	NM_152743.4(BRAT1):c.114G>A (p.Thr38=)	BRAT1	Single nucleotide variant (synonymous variant +2 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2907428	NM_152743.4(BRAT1):c.972G>A (p.Leu324=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2899988	NM_152743.4(BRAT1):c.784C>T (p.Leu262=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2896411	NM_152743.4(BRAT1):c.1812G>C (p.Ser604=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2896378	NM_152743.4(BRAT1):c.1341G>A (p.Thr447=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2894891	NM_152743.4(BRAT1):c.172C>T (p.Leu58=)	BRAT1	Single nucleotide variant (synonymous variant +2 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2879261	NM_152743.4(BRAT1):c.1302G>A (p.Gly434=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2877646	NM_152743.4(BRAT1):c.1016-9G>C	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2876657	NM_152743.4(BRAT1):c.2409G>A (p.Leu803=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2868788	NM_152743.4(BRAT1):c.810C>T (p.Pro270=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2864949	NM_152743.4(BRAT1):c.1798_1800del (p.Leu600del)	BRAT1 (L425del +2 more)	Deletion (inframe_deletion +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 2864105	NM_152743.4(BRAT1):c.1470C>G (p.Leu490=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2853874	NM_152743.4(BRAT1):c.1499-18T>C	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2847930	NM_152743.4(BRAT1):c.2082T>G (p.Ala694=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2847184	NM_152743.4(BRAT1):c.19C>T (p.Gln7Ter)	BRAT1 (Q7*)	Single nucleotide variant (nonsense +2 more)	Neonatal-onset encephalopathy with rigidity and seizures	GPathogenic
Select item 2846716	NM_152743.4(BRAT1):c.1016-1G>C	BRAT1	Single nucleotide variant (splice acceptor variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely pathogenic
Select item 2846372	NM_152743.4(BRAT1):c.534T>C (p.Gly178=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2844828	NM_152743.4(BRAT1):c.2035_2036dup (p.Pro680fs)	BRAT1 (P505fs +2 more)	Duplication (frameshift variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GPathogenic
Select item 2843200	NM_152743.4(BRAT1):c.282+13C>T	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2842322	NM_152743.4(BRAT1):c.1123del (p.Leu375fs)	BRAT1 (L200fs +1 more)	Deletion (frameshift variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GPathogenic
Select item 2840541	NM_152743.4(BRAT1):c.2052A>C (p.Pro684=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2835579	NM_152743.4(BRAT1):c.803+7G>A	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2827856	NM_152743.4(BRAT1):c.181C>T (p.His61Tyr)	BRAT1 (H61Y)	Single nucleotide variant (missense variant +2 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 2827789	NM_152743.4(BRAT1):c.1016-13G>C	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2825935	NM_152743.4(BRAT1):c.1908C>T (p.Ala636=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2825276	NM_152743.4(BRAT1):c.804-4G>C	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2820538	NM_152743.4(BRAT1):c.2211G>A (p.Arg737=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2820437	NM_152743.4(BRAT1):c.1963C>T (p.Leu655=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2819316	NM_152743.4(BRAT1):c.1297del (p.Leu433fs)	BRAT1 (L433fs +1 more)	Deletion (frameshift variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GPathogenic
Select item 2817130	NM_152743.4(BRAT1):c.1360C>T (p.Leu454=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2816404	NM_152743.4(BRAT1):c.1410C>T (p.Ala470=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2816135	NM_152743.4(BRAT1):c.447C>T (p.Ile149=)	BRAT1	Single nucleotide variant (5 prime UTR variant +2 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2815348	NM_152743.4(BRAT1):c.384C>G (p.Arg128=)	BRAT1	Single nucleotide variant (non-coding transcript variant +2 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2814887	NM_152743.4(BRAT1):c.803+20G>C	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2812468	NM_152743.4(BRAT1):c.2208G>C (p.Leu736=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2810709	NM_152743.4(BRAT1):c.1779_1780del (p.Leu594fs)	BRAT1 (L419fs +2 more)	Deletion (frameshift variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GPathogenic
Select item 2809321	NM_152743.4(BRAT1):c.197A>C (p.Gln66Pro)	BRAT1 (Q66P)	Single nucleotide variant (missense variant +2 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 2809149	NM_152743.4(BRAT1):c.1598-1G>A	BRAT1	Single nucleotide variant (splice acceptor variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely pathogenic
Select item 2808578	NM_152743.4(BRAT1):c.87G>A (p.Leu29=)	BRAT1	Single nucleotide variant (5 prime UTR variant +2 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2805135	NM_152743.4(BRAT1):c.1197G>T (p.Arg399=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2805085	NM_152743.4(BRAT1):c.1452C>A (p.Thr484=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2804536	NM_152743.4(BRAT1):c.1584C>T (p.Ser528=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2795888	NM_152743.4(BRAT1):c.939G>A (p.Arg313=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2789053	NM_152743.4(BRAT1):c.313G>T (p.Glu105Ter)	BRAT1 (E105*)	Single nucleotide variant (nonsense +2 more)	Neonatal-onset encephalopathy with rigidity and seizures	GPathogenic
Select item 2788459	NM_152743.4(BRAT1):c.2046G>A (p.Val682=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2784100	NM_152743.4(BRAT1):c.283-14T>C	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2777529	NM_152743.4(BRAT1):c.1A>G (p.Met1Val)	BRAT1 (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	Neonatal-onset encephalopathy with rigidity and seizures	GPathogenic
Select item 2772731	NM_152743.4(BRAT1):c.282+11G>A	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2769669	NM_152743.4(BRAT1):c.1598-5C>T	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2767101	NM_152743.4(BRAT1):c.1812G>T (p.Ser604=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2766184	NM_152743.4(BRAT1):c.1560C>T (p.Ala520=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2764523	NM_152743.4(BRAT1):c.1498+13C>G	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2763168	NM_152743.4(BRAT1):c.750A>G (p.Arg250=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2760881	NM_152743.4(BRAT1):c.1395+18G>C	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2760210	NM_152743.4(BRAT1):c.804-16T>C	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2750945	NM_152743.4(BRAT1):c.2262G>A (p.Arg754=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2750216	NM_152743.4(BRAT1):c.1015+20C>A	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2747189	NM_152743.4(BRAT1):c.1425C>T (p.Leu475=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2742384	NM_152743.4(BRAT1):c.1224C>T (p.Ala408=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign

<< First< Prev

Page of 13