BRAT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	ADAP1, AMZ1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC126859917, LOC126859918 +245 more	Copy number loss	See cases	GPathogenic
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 155196	GRCh38/hg38 7p22.3(chr7:2031462-2653470)x3	BRAT1, CHST12 +63 more	Copy number gain	See cases	GLikely benign
Select item 151093	GRCh38/hg38 7p22.3(chr7:2469943-2566182)x3	BRAT1, GRIFIN +13 more	Copy number gain	See cases	GUncertain significance
Select item 1186082	NM_152743.4(BRAT1):c.*219C>A	BRAT1	Single nucleotide variant (3 prime UTR variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +2 more	GLikely benign
Select item 1199781	NM_152743.4(BRAT1):c.*14C>T	BRAT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1253787	NM_152743.4(BRAT1):c.*12G>C	BRAT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1189594	NM_152743.4(BRAT1):c.*10G>C	BRAT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2054299	NM_152743.4(BRAT1):c.2459G>A (p.Cys820Tyr)	BRAT1 (C880Y +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 1536144	NM_152743.4(BRAT1):c.2457C>T (p.Asp819=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 1426607	NM_152743.4(BRAT1):c.2455G>A (p.Asp819Asn)	BRAT1 (D819N +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +1 more	GUncertain significance
Select item 745788	NM_152743.4(BRAT1):c.2454C>T (p.Ala818=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1003373	NM_152743.4(BRAT1):c.2453C>T (p.Ala818Val)	BRAT1 (A643V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 642917	NM_152743.4(BRAT1):c.2449G>A (p.Glu817Lys)	BRAT1 (E877K +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +1 more	GUncertain significance
Select item 1135009	NM_152743.4(BRAT1):c.2448C>T (p.Asp816=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 944628	NM_152743.4(BRAT1):c.2446del (p.Asp816fs)	BRAT1 (D641fs +2 more)	Deletion (frameshift variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 1533238	NM_152743.4(BRAT1):c.2442G>A (p.Gln814=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2333472	NM_152743.4(BRAT1):c.2441A>G (p.Gln814Arg)	BRAT1 (Q814R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1054618	NM_152743.4(BRAT1):c.2434T>G (p.Phe812Val)	BRAT1 (F637V +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 641682	NM_152743.4(BRAT1):c.2434T>C (p.Phe812Leu)	BRAT1 (F812L +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 1052354	NM_152743.4(BRAT1):c.2428G>A (p.Gly810Arg)	BRAT1 (G635R +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 1433323	NM_152743.4(BRAT1):c.2427G>A (p.Thr809=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 1134839	NM_152743.4(BRAT1):c.2427G>C (p.Thr809=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 860591	NM_152743.4(BRAT1):c.2426C>T (p.Thr809Met)	BRAT1 (T634M +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 2688677	NM_152743.4(BRAT1):c.2416A>G (p.Met806Val)	BRAT1 (M631V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1662207	NM_152743.4(BRAT1):c.2415C>T (p.Asp805=)	BRAT1	Single nucleotide variant (non-coding transcript variant +1 more)	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 2414027	NM_152743.4(BRAT1):c.2406C>T (p.Leu802=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 540173	NM_152743.4(BRAT1):c.2395C>T (p.Pro799Ser)	BRAT1 (P799S +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 861414	NM_152743.4(BRAT1):c.2389_2390del (p.Lys797fs)	BRAT1 (K797fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 956920	NM_152743.4(BRAT1):c.2389A>G (p.Lys797Glu)	BRAT1 (K622E +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +1 more	GUncertain significance
Select item 585490	NM_152743.4(BRAT1):c.2388A>G (p.Glu796=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +1 more	GBenign
Select item 1427766	NM_152743.4(BRAT1):c.2383G>A (p.Val795Met)	BRAT1 (V855M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1571276	NM_152743.4(BRAT1):c.2382C>T (p.His794=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 540149	NM_152743.4(BRAT1):c.2377G>A (p.Asp793Asn)	BRAT1 (D793N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 765260	NM_152743.4(BRAT1):c.2376C>T (p.Ser792=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 751394	NM_152743.4(BRAT1):c.2370G>A (p.Glu790=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 472965	NM_152743.4(BRAT1):c.2368G>A (p.Glu790Lys)	BRAT1 (E790K +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 1212820	NM_152743.4(BRAT1):c.2367C>T (p.Ala789=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +1 more	GLikely benign
Select item 745460	NM_152743.4(BRAT1):c.2361G>A (p.Thr787=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 570605	NM_152743.4(BRAT1):c.2360C>T (p.Thr787Met)	BRAT1 (T787M +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +1 more	GUncertain significance
Select item 936506	NM_152743.4(BRAT1):c.2358C>T (p.Ser786=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 1656235	NM_152743.4(BRAT1):c.2355G>A (p.Arg785=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 1013716	NM_152743.4(BRAT1):c.2354G>A (p.Arg785Gln)	BRAT1 (R610Q +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 445886	NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp)	BRAT1 (R785W +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +1 more	GConflicting classifications of pathogenicity
Select item 1718271	NM_152743.4(BRAT1):c.2351T>A (p.Leu784Gln)	BRAT1 (L609Q +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 641039	NM_152743.4(BRAT1):c.2351T>C (p.Leu784Pro)	BRAT1 (L609P +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 2022589	NM_152743.4(BRAT1):c.2349C>G (p.Gly783=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 1472491	NM_152743.4(BRAT1):c.2347G>A (p.Gly783Ser)	BRAT1 (G608S +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 2179582	NM_152743.4(BRAT1):c.2345A>G (p.Glu782Gly)	BRAT1 (E782G +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 1378085	NM_152743.4(BRAT1):c.2341C>G (p.Leu781Val)	BRAT1 (L841V +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 1914936	NM_152743.4(BRAT1):c.2340C>T (p.Asp780=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 567552	NM_152743.4(BRAT1):c.2340C>G (p.Asp780Glu)	BRAT1 (D780E +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +2 more	GConflicting classifications of pathogenicity
Select item 1008701	NM_152743.4(BRAT1):c.2338G>C (p.Asp780His)	BRAT1 (D605H +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 1159754	NM_152743.4(BRAT1):c.2337A>G (p.Leu779=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 1006666	NM_152743.4(BRAT1):c.2334_2335del (p.Leu779fs)	BRAT1 (L839fs +2 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +1 more	GConflicting classifications of pathogenicity
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 1020109	NM_152743.4(BRAT1):c.2331G>C (p.Arg777Ser)	BRAT1 (R602S +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 540171	NM_152743.4(BRAT1):c.2329A>G (p.Arg777Gly)	BRAT1 (R777G +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +3 more	GUncertain significance
Select item 2143042	NM_152743.4(BRAT1):c.2327T>C (p.Leu776Pro)	BRAT1 (L601P +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 1432841	NM_152743.4(BRAT1):c.2325G>A (p.Met775Ile)	BRAT1 (M775I +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 842958	NM_152743.4(BRAT1):c.2323A>G (p.Met775Val)	BRAT1 (M600V +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 658393	NM_152743.4(BRAT1):c.2321C>T (p.Ala774Val)	BRAT1 (A774V +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +1 more	GUncertain significance
Select item 1461594	NM_152743.4(BRAT1):c.2315T>G (p.Val772Gly)	BRAT1 (V597G +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 1061419	NM_152743.4(BRAT1):c.2314G>A (p.Val772Met)	BRAT1 (V597M +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 1579307	NM_152743.4(BRAT1):c.2313T>C (p.Ala771=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 2439556	NM_152743.4(BRAT1):c.2311G>T (p.Ala771Ser)	BRAT1 (A596S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2536725	NM_152743.4(BRAT1):c.2304G>T (p.Glu768Asp)	BRAT1 (E828D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2022178	NM_152743.4(BRAT1):c.2301G>A (p.Gln767=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 1390513	NM_152743.4(BRAT1):c.2301G>C (p.Gln767His)	BRAT1 (Q592H +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 1435635	NM_152743.4(BRAT1):c.2298C>G (p.Asp766Glu)	BRAT1 (D591E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 958915	NM_152743.4(BRAT1):c.2298C>A (p.Asp766Glu)	BRAT1 (D591E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 577573	NM_152743.4(BRAT1):c.2296G>A (p.Asp766Asn)	BRAT1 (D766N +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 1401779	NM_152743.4(BRAT1):c.2293G>A (p.Gly765Arg)	BRAT1 (G590R +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 665862	NM_152743.4(BRAT1):c.2291dup (p.Gly765fs)	BRAT1 (G765fs +2 more)	Duplication (frameshift variant +1 more)	BRAT1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 947950	NM_152743.4(BRAT1):c.2290C>G (p.Pro764Ala)	BRAT1 (P764A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1458796	NM_152743.4(BRAT1):c.2284C>T (p.Gln762Ter)	BRAT1 (Q587* +2 more)	Single nucleotide variant (nonsense +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GPathogenic
Select item 2657232	NM_152743.4(BRAT1):c.2283C>G (p.Ala761=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1490510	NM_152743.4(BRAT1):c.2254_2274del (p.Leu752_Gly758del)	BRAT1	Deletion (inframe_deletion +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 1114486	NM_152743.4(BRAT1):c.2271G>A (p.Ala757=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely benign
Select item 660227	NM_152743.4(BRAT1):c.2270C>T (p.Ala757Val)	BRAT1 (A757V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 566724	NM_152743.4(BRAT1):c.2269G>A (p.Ala757Thr)	BRAT1 (A757T +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 857214	NM_152743.4(BRAT1):c.2267G>A (p.Arg756Gln)	BRAT1 (R581Q +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 856393	NM_152743.4(BRAT1):c.2267G>T (p.Arg756Leu)	BRAT1 (R581L +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 954338	NM_152743.4(BRAT1):c.2266C>T (p.Arg756Trp)	BRAT1 (R756W +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
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 708185	NM_152743.4(BRAT1):c.2259G>A (p.Pro753=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +1 more	GLikely benign

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