ATM Lys828*fs*1 - ClinVar - NCBI

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The following term was not found in ClinVar: Lys828*fs*1.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 632106	NM_001852.4(COL9A2):c.1242del (p.Gly415fs)	COL9A2 (G415fs)	Deletion (frameshift variant)	Stickler syndrome, type 5 +2 more	GConflicting classifications of pathogenicity
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +8 more	GPathogenic/Likely pathogenic
Select item 41764	NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)	MUTYH (R274Q +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 1339164	NM_000254.3(MTR):c.2404C>T (p.Arg802Ter)	MTR (R395* +2 more)	Single nucleotide variant (nonsense)	Methylcobalamin deficiency type cblG	GPathogenic/Likely pathogenic
Select item 90832	NM_000251.3(MSH2):c.1A>C (p.Met1Leu)	MSH2 (M1L)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 90589	NM_000251.3(MSH2):c.1275A>G (p.Glu425=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 127637	NM_000251.3(MSH2):c.1963G>A (p.Val655Ile)	MSH2 (V655I +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GUncertain significance
Select item 90972	NM_000251.3(MSH2):c.2437A>G (p.Met813Val)	MSH2 (M813V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GUncertain significance
Select item 684444	NM_000251.3(MSH2):c.2510C>G (p.Pro837Arg)	MSH2 (P771R +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of breast +1 more	Gnot provided
Select item 127586	NM_000179.3(MSH6):c.335A>G (p.Asn112Ser)	MSH6 (N112S)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5 +5 more	GConflicting classifications of pathogenicity
Select item 140866	NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)	MSH6 (R1242H +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GPathogenic/Likely pathogenic
Select item 220476	NM_000465.4(BARD1):c.1757G>T (p.Ser586Ile)	BARD1 (S586I +3 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 237836	NM_000465.4(BARD1):c.382C>T (p.Pro128Ser)	BARD1 (P128S +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 419566	NM_000465.4(BARD1):c.212G>T (p.Cys71Phe)	BARD1 (C71F)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GUncertain significance
Select item 184583	NM_000465.4(BARD1):c.144G>A (p.Leu48=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 12281	NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)	UGT1A4, UGT1A5 +8 more (Y486D +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome, type II +7 more	GPathogenic/Likely pathogenic
Select item 192220	NM_000249.4(MLH1):c.37G>A (p.Glu13Lys)	MLH1 (E13K)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 140759	NM_000249.4(MLH1):c.1154G>A (p.Arg385His)	MLH1 (R385H +5 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +7 more	GConflicting classifications of pathogenicity
Select item 41635	NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu)	MLH1 (P581L +5 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 41901	NM_001184.4(ATR):c.5635G>T (p.Asp1879Tyr)	ATR (D1879Y +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1	GPathogenic
Select item 632800	NM_139076.3(ABRAXAS1):c.82G>C (p.Asp28His)	ABRAXAS1, LOC129992784 (D28H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 186663	NM_000038.6(APC):c.730-3C>T	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 133519	NM_000038.6(APC):c.3875C>T (p.Thr1292Met)	APC (T1274M +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 142246	NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)	APC (R1622W +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +4 more	GConflicting classifications of pathogenicity
Select item 424557	NM_000426.4(LAMA2):c.5866-1G>A	LAMA2	Single nucleotide variant (splice acceptor variant)	LAMA2-related muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	AMZ1, ADAP1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +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	LOC129997784, LOC129997785 +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	LOC123924897, LOC123924898 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +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)	not provided +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)	not provided +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)	not provided +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)	Neonatal-onset encephalopathy with rigidity and 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

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