11213[geneid] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	IL22, BEST3 +163 more	Copy number loss	See cases	GPathogenic
Select item 736195	NM_007199.3(IRAK3):c.1A>G (p.Met1Val)	IRAK3 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3110824	NM_007199.3(IRAK3):c.5C>G (p.Ala2Gly)	IRAK3 (A2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 452843	NM_007199.3(IRAK3):c.5C>A (p.Ala2Glu)	IRAK3 (A2E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2471695	NM_007199.3(IRAK3):c.25G>A (p.Gly9Ser)	IRAK3, LOC130008234 (G9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305933	NM_007199.3(IRAK3):c.44C>A (p.Thr15Lys)	IRAK3, LOC130008234 (T15K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 451697	NM_007199.3(IRAK3):c.94C>A (p.Leu32Met)	IRAK3, LOC130008235 (L32M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3110827	NM_007199.3(IRAK3):c.97G>A (p.Asp33Asn)	IRAK3, LOC130008235 (D33N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291389	NM_007199.3(IRAK3):c.153C>G (p.Ser51Arg)	IRAK3 (S51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110818	NM_007199.3(IRAK3):c.190C>G (p.Gln64Glu)	IRAK3 (Q64E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110819	NM_007199.3(IRAK3):c.205A>G (p.Thr69Ala)	IRAK3 (T69A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227661	NM_007199.3(IRAK3):c.226T>C (p.Trp76Arg)	IRAK3 (W76R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 5535	NM_007199.3(IRAK3):c.227G>A (p.Trp76Ter)	IRAK3 (W76*)	Single nucleotide variant (nonsense +1 more)	Asthma-related traits, susceptibility to, 5	Grisk factor
Select item 2521049	NM_007199.3(IRAK3):c.283C>T (p.His95Tyr)	IRAK3 (H95Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471520	NM_007199.3(IRAK3):c.284A>G (p.His95Arg)	IRAK3 (H95R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557762	NM_007199.3(IRAK3):c.295A>G (p.Ile99Val)	IRAK3 (I99V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110820	NM_007199.3(IRAK3):c.307A>C (p.Thr103Pro)	IRAK3 (T103P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110821	NM_007199.3(IRAK3):c.308C>T (p.Thr103Ile)	IRAK3 (T103I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 5536	NM_007199.3(IRAK3):c.381+1G>T	IRAK3	Single nucleotide variant (splice donor variant)	Asthma-related traits, susceptibility to, 5	Grisk factor
Select item 3035734	NM_007199.3(IRAK3):c.381+10G>A	IRAK3	Single nucleotide variant (intron variant)	IRAK3-related disorder	GLikely benign
Select item 3110822	NM_007199.3(IRAK3):c.388G>T (p.Ala130Ser)	IRAK3 (A69S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552185	NM_007199.3(IRAK3):c.424C>T (p.His142Tyr)	IRAK3 (H81Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774329	NM_007199.3(IRAK3):c.435A>G (p.Lys145=)	IRAK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3059815	NM_007199.3(IRAK3):c.439A>G (p.Ile147Val)	IRAK3 (I147V +1 more)	Single nucleotide variant (missense variant)	IRAK3-related disorder	GBenign
Select item 2607775	NM_007199.3(IRAK3):c.443T>A (p.Leu148Gln)	IRAK3 (L148Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717008	NM_007199.3(IRAK3):c.468A>G (p.Gln156=)	IRAK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3052038	NM_007199.3(IRAK3):c.511A>G (p.Ile171Val)	IRAK3 (I110V +1 more)	Single nucleotide variant (missense variant)	IRAK3-related disorder	GLikely benign
Select item 712732	NM_007199.3(IRAK3):c.540C>A (p.Tyr180Ter)	IRAK3 (Y180* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 3110823	NM_007199.3(IRAK3):c.550A>T (p.Ile184Phe)	IRAK3 (I184F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2428769	NM_007199.3(IRAK3):c.588+2T>C	IRAK3	Single nucleotide variant (splice donor variant)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 2317892	NM_007199.3(IRAK3):c.608A>G (p.Lys203Arg)	IRAK3 (K142R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3110825	NM_007199.3(IRAK3):c.764G>A (p.Cys255Tyr)	IRAK3 (C255Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110826	NM_007199.3(IRAK3):c.766G>T (p.Val256Leu)	IRAK3 (V256L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 422424	NM_007199.3(IRAK3):c.799C>T (p.Arg267Ter)	IRAK3 (R267* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3053040	NM_007199.3(IRAK3):c.808A>G (p.Ile270Val)	IRAK3 (I209V +1 more)	Single nucleotide variant (missense variant)	IRAK3-related disorder	GBenign
Select item 2544763	NM_007199.3(IRAK3):c.850G>A (p.Val284Ile)	IRAK3 (V223I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049609	NM_007199.3(IRAK3):c.864G>T (p.Ser288=)	IRAK3	Single nucleotide variant (synonymous variant)	IRAK3-related disorder	GLikely benign
Select item 2546875	NM_007199.3(IRAK3):c.908A>G (p.Asp303Gly)	IRAK3 (D303G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110808	NM_007199.3(IRAK3):c.1127A>C (p.Asp376Ala)	IRAK3 (D315A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110809	NM_007199.3(IRAK3):c.1139A>G (p.His380Arg)	IRAK3 (H380R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713132	NM_007199.3(IRAK3):c.1143C>T (p.Ile381=)	IRAK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 503865	NM_007199.3(IRAK3):c.1148dup (p.Arg384fs)	IRAK3 (R323fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3110810	NM_007199.3(IRAK3):c.1150C>T (p.Arg384Trp)	IRAK3 (R323W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305552	NM_007199.3(IRAK3):c.1156C>A (p.Leu386Ile)	IRAK3 (L325I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043733	NM_007199.3(IRAK3):c.1198C>G (p.Leu400Val)	IRAK3 (L339V +1 more)	Single nucleotide variant (missense variant)	IRAK3-related disorder	GLikely benign
Select item 423059	NM_007199.3(IRAK3):c.1218_1219insTGA (p.Val407Ter)	IRAK3 (V346* +1 more)	Insertion (nonsense)	not provided	GLikely pathogenic
Select item 2594605	NM_007199.3(IRAK3):c.1300C>A (p.Pro434Thr)	IRAK3 (P434T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110811	NM_007199.3(IRAK3):c.1315G>A (p.Val439Ile)	IRAK3 (V378I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044390	NM_007199.3(IRAK3):c.1347C>T (p.Ser449=)	IRAK3	Single nucleotide variant (synonymous variant)	IRAK3-related disorder	GLikely benign
Select item 3110812	NM_007199.3(IRAK3):c.1373C>T (p.Thr458Ile)	IRAK3 (T458I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537964	NM_007199.3(IRAK3):c.1379T>C (p.Leu460Pro)	IRAK3 (L399P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038783	NM_007199.3(IRAK3):c.1397C>G (p.Pro466Arg)	IRAK3 (P405R +1 more)	Single nucleotide variant (missense variant)	IRAK3-related disorder	GBenign
Select item 190265	NM_007199.3(IRAK3):c.1461del (p.Asn487fs)	IRAK3 (N487fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2547367	NM_007199.3(IRAK3):c.1483G>A (p.Gly495Ser)	IRAK3 (G434S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043454	NM_007199.3(IRAK3):c.1539G>A (p.Glu513=)	IRAK3	Single nucleotide variant (synonymous variant)	IRAK3-related disorder	GLikely benign
Select item 2540011	NM_007199.3(IRAK3):c.1561A>G (p.Lys521Glu)	IRAK3 (K460E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239612	NM_007199.3(IRAK3):c.1562A>G (p.Lys521Arg)	IRAK3 (K521R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110813	NM_007199.3(IRAK3):c.1566G>C (p.Lys522Asn)	IRAK3 (K461N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327448	NM_007199.3(IRAK3):c.1616G>A (p.Cys539Tyr)	IRAK3 (C478Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298416	NM_007199.3(IRAK3):c.1640A>G (p.Tyr547Cys)	IRAK3 (Y547C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039172	NM_007199.3(IRAK3):c.1653C>T (p.Ser551=)	IRAK3	Single nucleotide variant (synonymous variant)	IRAK3-related disorder	GBenign
Select item 504009	NM_007199.3(IRAK3):c.1661T>G (p.Leu554Ter)	IRAK3 (L554* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2296702	NM_007199.3(IRAK3):c.1670A>G (p.Tyr557Cys)	IRAK3 (Y557C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110814	NM_007199.3(IRAK3):c.1691C>T (p.Ser564Phe)	IRAK3 (S564F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110815	NM_007199.3(IRAK3):c.1736G>A (p.Ser579Asn)	IRAK3 (S518N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110816	NM_007199.3(IRAK3):c.1737C>G (p.Ser579Arg)	IRAK3 (S579R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110817	NM_007199.3(IRAK3):c.1751A>G (p.Lys584Arg)	IRAK3 (K523R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244245	NC_000012.11:g.(?_64173741)_(68052493_?)del	DYRK2, GNS +18 more	Deletion	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 3063238	GRCh37/hg19 12q14.3(chr12:65462762-66830065)x1	GRIP1, HELB +7 more	Copy number loss	not specified	GPathogenic
Select item 2685438	GRCh37/hg19 12q14.3(chr12:65716808-66690108)x1	HMGA2, IRAK3 +3 more	Copy number loss	not provided	GPathogenic
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684676	GRCh37/hg19 12q14.3(chr12:66460527-67175455)x3	GRIP1, HELB +3 more	Copy number gain	not provided	GUncertain significance
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	BEST3, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 1340105	GRCh37/hg19 12q14.3-15(chr12:66045645-68872343)x1	CAND1, DYRK2 +10 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 688292	GRCh37/hg19 12q14.3(chr12:66285627-66718973)x3	HELB, HMGA2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 82