IRAK2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 57742	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	ARPC4, ARPC4-TTLL3 +63 more	Copy number loss	See cases	GPathogenic
Select item 148687	GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1	ATP2B2, ATP2B2-IT1 +58 more	Copy number loss	See cases	GPathogenic
Select item 144845	GRCh38/hg38 3p25.3(chr3:9896061-10220962)x1	BRK1, CRELD1 +34 more	Copy number loss	See cases	GPathogenic
Select item 57766	GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1	ATG7, ATP2B2 +79 more	Copy number loss	See cases	GPathogenic
Select item 2653514	NM_001570.4(IRAK2):c.-2C>T	IRAK2, LOC107303341	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2311693	NM_001570.4(IRAK2):c.13A>G (p.Ile5Val)	IRAK2, LOC107303341 (I5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110802	NM_001570.4(IRAK2):c.17A>G (p.Tyr6Cys)	IRAK2, LOC107303341 (Y6C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600186	NM_001570.4(IRAK2):c.132G>T (p.Lys44Asn)	IRAK2, LOC107303341 (K44N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549413	NM_001570.4(IRAK2):c.172C>T (p.Arg58Trp)	IRAK2, LOC107303341 (R58W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110801	NM_001570.4(IRAK2):c.173G>A (p.Arg58Gln)	IRAK2, LOC107303341 (R58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593563	NM_001570.4(IRAK2):c.235T>A (p.Cys79Ser)	IRAK2, LOC107303341 (C79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653515	NM_001570.4(IRAK2):c.261C>T (p.Ala87=)	IRAK2, LOC107303341	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3110803	NM_001570.4(IRAK2):c.311C>G (p.Pro104Arg)	IRAK2, LOC107303341 (P104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481876	NM_001570.4(IRAK2):c.388G>A (p.Gly130Arg)	IRAK2, LOC107303341 (G130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542685	NM_001570.4(IRAK2):c.449A>G (p.Gln150Arg)	IRAK2 (Q150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110804	NM_001570.4(IRAK2):c.454G>A (p.Ala152Thr)	IRAK2 (A152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110805	NM_001570.4(IRAK2):c.502G>A (p.Asp168Asn)	IRAK2 (D168N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262753	NM_001570.4(IRAK2):c.574G>A (p.Ala192Thr)	IRAK2 (A192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653516	NM_001570.4(IRAK2):c.606C>T (p.Asp202=)	IRAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2558101	NM_001570.4(IRAK2):c.680G>T (p.Gly227Val)	IRAK2 (G227V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352021	NM_001570.4(IRAK2):c.725C>G (p.Thr242Arg)	IRAK2 (T242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342583	NM_001570.4(IRAK2):c.751G>A (p.Glu251Lys)	IRAK2 (E251K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110806	NM_001570.4(IRAK2):c.781T>C (p.Cys261Arg)	IRAK2 (C261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259703	NM_001570.4(IRAK2):c.803A>G (p.Asn268Ser)	IRAK2 (N268S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387827	NM_001570.4(IRAK2):c.805G>T (p.Val269Phe)	IRAK2 (V269F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110807	NM_001570.4(IRAK2):c.911C>T (p.Ser304Leu)	IRAK2 (S304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570065	NM_001570.4(IRAK2):c.917C>G (p.Pro306Arg)	IRAK2 (P306R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280931	NM_001570.4(IRAK2):c.994A>T (p.Ile332Phe)	IRAK2 (I332F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155031	GRCh38/hg38 3p25.3(chr3:10220962-11165449)x1	ATP2B2, ATP2B2-IT1 +36 more	Copy number loss	See cases	GUncertain significance
Select item 2539710	NM_001570.4(IRAK2):c.1026G>T (p.Leu342Phe)	IRAK2 (L342F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110792	NM_001570.4(IRAK2):c.1045C>T (p.Pro349Ser)	IRAK2 (P349S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325741	NM_001570.4(IRAK2):c.1105A>G (p.Met369Val)	IRAK2 (M369V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470712	NM_001570.4(IRAK2):c.1130C>T (p.Thr377Met)	IRAK2 (T377M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322433	NM_001570.4(IRAK2):c.1141T>C (p.Tyr381His)	IRAK2 (Y381H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1232409	NM_001570.4(IRAK2):c.1174C>G (p.Leu392Val)	IRAK2 (L392V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3110793	NM_001570.4(IRAK2):c.1184G>A (p.Arg395Gln)	IRAK2 (R395Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616676	NM_001570.4(IRAK2):c.1229C>T (p.Thr410Met)	IRAK2 (T410M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388014	NM_001570.4(IRAK2):c.1301G>C (p.Ser434Thr)	IRAK2 (S434T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403814	NM_001570.4(IRAK2):c.1339G>A (p.Glu447Lys)	IRAK2 (E447K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304028	NM_001570.4(IRAK2):c.1351G>T (p.Ala451Ser)	IRAK2 (A451S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286490	NM_001570.4(IRAK2):c.1390G>C (p.Gly464Arg)	IRAK2 (G464R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110795	NM_001570.4(IRAK2):c.1414G>A (p.Glu472Lys)	IRAK2 (E472K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3286491	NM_001570.4(IRAK2):c.1429G>A (p.Ala477Thr)	IRAK2 (A477T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215891	NM_001570.4(IRAK2):c.1453C>T (p.Arg485Cys)	IRAK2 (R485C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110796	NM_001570.4(IRAK2):c.1504C>T (p.Arg502Trp)	IRAK2 (R502W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341606	NM_001570.4(IRAK2):c.1523C>T (p.Thr508Met)	IRAK2 (T508M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2285443	NM_001570.4(IRAK2):c.1547C>G (p.Ser516Cys)	IRAK2 (S516C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399625	NM_001570.4(IRAK2):c.1549G>A (p.Glu517Lys)	IRAK2 (E517K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110797	NM_001570.4(IRAK2):c.1553G>A (p.Gly518Asp)	IRAK2 (G518D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110798	NM_001570.4(IRAK2):c.1562C>T (p.Ser521Phe)	IRAK2 (S521F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110799	NM_001570.4(IRAK2):c.1565C>T (p.Ser522Phe)	IRAK2 (S522F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341557	NM_001570.4(IRAK2):c.1594G>A (p.Val532Ile)	IRAK2 (V532I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516182	NM_001570.4(IRAK2):c.1609C>T (p.Leu537Phe)	IRAK2 (L537F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357007	NM_001570.4(IRAK2):c.1717G>T (p.Ala573Ser)	IRAK2 (A573S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338449	GRCh37/hg19 3p25.3(chr3:9974258-11078781)x1	ATP2B2, BRK1 +14 more	Copy number loss	Myoclonic-atonic epilepsy	GLikely pathogenic
Select item 3246963	NC_000003.11:g.(?_9470623)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +29 more	Duplication	not provided	GUncertain significance
Select item 3246936	NC_000003.11:g.(?_9703931)_(11078652_?)del	GHRLOS, IL17RC +27 more	Deletion	Myoclonic-atonic epilepsy	GPathogenic
Select item 3246834	NC_000003.11:g.(?_10183598)_(10206573_?)del	IRAK2, VHL	Deletion	Chuvash polycythemia +1 more	GPathogenic
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062688	GRCh37/hg19 3p25.3(chr3:10167355-10209588)x1	BRK1, IRAK2 +1 more	Copy number loss	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685907	GRCh37/hg19 3p25.3(chr3:10098118-10311939)x3	BRK1, FANCD2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685906	GRCh37/hg19 3p25.3(chr3:9655252-10332544)x3	ARPC4, ARPC4-TTLL3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2672981	GRCh37/hg19 3p25.3(chr3:10070342-10312699)x4	BRK1, FANCD2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2580292	GRCh37/hg19 3p25.3-25.2(chr3:10167260-12533766)x1	ATG7, ATP2B2 +16 more	Copy number loss	See cases	GPathogenic
Select item 2424613	NC_000003.11:g.(?_10094051)_(11078652_?)del	ATP2B2, BRK1 +10 more	Deletion	Myoclonic-astatic epilepsy	GPathogenic
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807789	GRCh37/hg19 3p25.3(chr3:9908803-10265564)x3	BRK1, CIDEC +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807689	GRCh37/hg19 3p25.3-25.2(chr3:10024917-11917048)x1	ATG7, ATP2B2 +15 more	Copy number loss	not provided	GPathogenic
Select item 1807638	GRCh37/hg19 3p25.3(chr3:9754612-10295828)x3	ARPC4, ARPC4-TTLL3 +20 more	Copy number gain	not provided	GUncertain significance
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1526997	GRCh37/hg19 3p25.3(chr3:9754611-10295828)	BRPF1, CAMK1 +20 more	Copy number gain	not specified	GUncertain significance
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1373390	NC_000003.11:g.(?_7782024)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +38 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 997763	NC_000003.11:g.10190033_10209132del	IRAK2, VHL	Deletion	Von Hippel-Lindau syndrome	GPathogenic
Select item 997756	NC_000003.11:g.10184086_10218542del	IRAK2, VHL	Deletion	Von Hippel-Lindau syndrome	GPathogenic
Select item 997751	NC_000003.11:g.10188005_10207561del	IRAK2, VHL	Deletion	Von Hippel-Lindau syndrome	GPathogenic
Select item 997749	NC_000003.11:g.10182212_10212738del	IRAK2, VHL	Deletion	Von Hippel-Lindau syndrome	GPathogenic
Select item 816593	GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1	ARL8B, ARPC4 +45 more	Copy number loss	not provided	GPathogenic
Select item 635955	Single allele	BRPF1, IL17RE +33 more	Duplication	Neurodevelopmental disorder	GUncertain significance

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