149233[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 152348	GRCh38/hg38 1p31.3(chr1:64944525-67592003)x1	AK4, C1orf141 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 2961090	NM_144701.3(IL23R):c.8A>G (p.Gln3Arg)	IL23R (Q3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169496	NM_144701.3(IL23R):c.9G>T (p.Gln3His)	IL23R (Q3H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2815875	NM_144701.3(IL23R):c.25del (p.Asp9fs)	IL23R (D9fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1444532	NM_144701.3(IL23R):c.27T>G (p.Asp9Glu)	IL23R (D9E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099163	NM_144701.3(IL23R):c.28G>A (p.Ala10Thr)	IL23R (A10T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1645124	NM_144701.3(IL23R):c.39C>T (p.Ala13=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945050	NM_144701.3(IL23R):c.46A>G (p.Ile16Val)	IL23R (I16V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1404883	NM_144701.3(IL23R):c.55A>G (p.Ser19Gly)	IL23R (S19G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2973723	NM_144701.3(IL23R):c.58T>C (p.Trp20Arg)	IL23R (W20R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917576	NM_144701.3(IL23R):c.59G>T (p.Trp20Leu)	IL23R (W20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936157	NM_144701.3(IL23R):c.70+3_70+4dup	IL23R	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2102333	NM_144701.3(IL23R):c.70+8_70+9del	IL23R	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1441724	NM_144701.3(IL23R):c.70+6G>A	IL23R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2795401	NM_144701.3(IL23R):c.70+16T>C	IL23R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630992	NM_144701.3(IL23R):c.70+20T>A	IL23R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2135199	NM_144701.3(IL23R):c.87C>T (p.Asn29=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2272016	NM_144701.3(IL23R):c.98A>G (p.His33Arg)	IL23R (H33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1970800	NM_144701.3(IL23R):c.99C>T (p.His33=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1494049	NM_144701.3(IL23R):c.100A>C (p.Ile34Leu)	IL23R (I34L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793847	NM_144701.3(IL23R):c.104G>A (p.Trp35Ter)	IL23R (W35*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1718488	NM_144701.3(IL23R):c.105G>T (p.Trp35Cys)	IL23R (W35C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813836	NM_144701.3(IL23R):c.106G>A (p.Val36Ile)	IL23R (V36I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1572083	NM_144701.3(IL23R):c.111A>G (p.Glu37=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1487392	NM_144701.3(IL23R):c.122T>A (p.Ile41Asn)	IL23R (I41N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777320	NM_144701.3(IL23R):c.148A>G (p.Ile50Val)	IL23R (I50V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1593127	NM_144701.3(IL23R):c.150A>C (p.Ile50=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824179	NM_144701.3(IL23R):c.161C>T (p.Ala54Val)	IL23R (A54V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1059313	NM_144701.3(IL23R):c.163G>A (p.Ala55Thr)	IL23R (A55T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667479	NM_144701.3(IL23R):c.165A>G (p.Ala55=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886166	NM_144701.3(IL23R):c.166A>T (p.Ile56Phe)	IL23R (I56F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827802	NM_144701.3(IL23R):c.183A>T (p.Pro61=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 760491	NM_144701.3(IL23R):c.183A>G (p.Pro61=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986990	NM_144701.3(IL23R):c.187A>G (p.Lys63Glu)	IL23R (K63E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963484	NM_144701.3(IL23R):c.197T>A (p.Phe66Tyr)	IL23R (F66Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962195	NM_144701.3(IL23R):c.207T>C (p.Asn69=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988179	NM_144701.3(IL23R):c.210C>T (p.Gly70=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972503	NM_144701.3(IL23R):c.219A>G (p.Glu73=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854838	NM_144701.3(IL23R):c.228A>G (p.Gln76=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179749	NM_144701.3(IL23R):c.237G>A (p.Arg79=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1570738	NM_144701.3(IL23R):c.240T>A (p.Ile80=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765733	NM_144701.3(IL23R):c.245A>T (p.Lys82Ile)	IL23R (K82I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383183	NM_144701.3(IL23R):c.246A>C (p.Lys82Asn)	IL23R (K82N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 775559	NM_144701.3(IL23R):c.252A>C (p.Thr84=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1413220	NM_144701.3(IL23R):c.256C>T (p.Arg86Trp)	IL23R (R86W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169579	NM_144701.3(IL23R):c.257G>A (p.Arg86Gln)	IL23R (R86Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1663864	NM_144701.3(IL23R):c.258G>A (p.Arg86=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852726	NM_144701.3(IL23R):c.259C>T (p.Leu87Phe)	IL23R (L87F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800081	NM_144701.3(IL23R):c.272A>C (p.Asn91Thr)	IL23R (N91T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2744147	NM_144701.3(IL23R):c.272A>G (p.Asn91Ser)	IL23R (N91S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917757	NM_144701.3(IL23R):c.276T>C (p.Phe92=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1063418	NM_144701.3(IL23R):c.322C>T (p.His108Tyr)	IL23R (H108Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812072	NM_144701.3(IL23R):c.323A>G (p.His108Arg)	IL23R (H108R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368111	NM_144701.3(IL23R):c.338T>C (p.Leu113Pro)	IL23R (L113P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928420	NM_144701.3(IL23R):c.339G>A (p.Leu113=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 992571	NM_144701.3(IL23R):c.344G>A (p.Cys115Tyr)	IL23R (C115Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788888	NM_144701.3(IL23R):c.352G>C (p.Asp118His)	IL23R (D118H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002966	NM_144701.3(IL23R):c.358T>A (p.Ser120Thr)	IL23R (S120T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988736	NM_144701.3(IL23R):c.367+12G>T	IL23R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553683	NM_144701.3(IL23R):c.367+20T>C	IL23R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2688370	NM_144701.3(IL23R):c.368-59T>C	IL23R	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1896201	NM_144701.3(IL23R):c.368-16T>C	IL23R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992527	NM_144701.3(IL23R):c.368-13T>C	IL23R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2104740	NM_144701.3(IL23R):c.368-11T>G	IL23R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2170832	NM_144701.3(IL23R):c.371C>T (p.Pro124Leu)	IL23R (P124L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 735871	NM_144701.3(IL23R):c.372G>A (p.Pro124=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1432586	NM_144701.3(IL23R):c.387T>A (p.Asp129Glu)	IL23R (D129E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2160162	NM_144701.3(IL23R):c.395C>T (p.Thr132Ile)	IL23R (T132I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1914932	NM_144701.3(IL23R):c.402C>A (p.Val134=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1410702	NM_144701.3(IL23R):c.408T>C (p.Tyr136=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1468984	NM_144701.3(IL23R):c.434C>T (p.Thr145Ile)	IL23R (T145I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1167634	NM_144701.3(IL23R):c.445G>A (p.Gly149Arg)	IL23R (G149R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2144287	NM_144701.3(IL23R):c.449A>C (p.Lys150Thr)	IL23R (K150T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015599	NM_144701.3(IL23R):c.451C>T (p.Leu151Phe)	IL23R (L151F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010362	NM_144701.3(IL23R):c.465C>T (p.Asp155=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728416	NM_144701.3(IL23R):c.474C>T (p.Tyr158=)	IL23R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2180489	NM_144701.3(IL23R):c.475G>A (p.Val159Met)	IL23R (V159M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808676	NM_144701.3(IL23R):c.476T>A (p.Val159Glu)	IL23R (V159E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014522	NM_144701.3(IL23R):c.479T>C (p.Val160Ala)	IL23R (V160A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732723	NM_144701.3(IL23R):c.482A>G (p.His161Arg)	IL23R (H161R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168829	NM_144701.3(IL23R):c.491+17C>T	IL23R	Single nucleotide variant (intron variant)	Inflammatory bowel disease 17 +2 more	GBenign/Likely benign
Select item 1600846	NM_144701.3(IL23R):c.492-9dup	IL23R	Duplication (intron variant)	not provided	GBenign
Select item 1956091	NM_144701.3(IL23R):c.492-11_492-9del	IL23R	Deletion (intron variant)	not provided	GBenign
Select item 1571673	NM_144701.3(IL23R):c.492-9del	IL23R	Deletion (intron variant)	Inflammatory bowel disease 17 +2 more	GBenign/Likely benign
Select item 1634294	NM_144701.3(IL23R):c.492-17T>G	IL23R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006452	NM_144701.3(IL23R):c.492-15T>C	IL23R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982941	NM_144701.3(IL23R):c.492-13T>G	IL23R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1514299	NM_144701.3(IL23R):c.492-8_492-4del	IL23R	Deletion (intron variant)	not provided	GLikely benign
Select item 2092213	NM_144701.3(IL23R):c.492-11T>G	IL23R	Single nucleotide variant (intron variant)	not provided	GLikely benign

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