IDO2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000263, LOC130000264 +935 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	ADAM18, ADAM2 +932 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	LOC130000231, LOC130000232 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC126860340, LOC126860341 +927 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000005, LOC130000006 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC121740715, LOC124049166 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000093, LOC130000094 +927 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC130000259, LOC130000260 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999968, LOC129999969 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000066, LOC130000067 +920 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	ADAM18, ADAM2 +591 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +286 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	LOC126860374, LOC126860375 +417 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC130000227, LOC130000228 +541 more	Copy number gain	See cases	GPathogenic
Select item 59782	GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 145616	GRCh38/hg38 8p11.23-11.21(chr8:38065927-40341650)x1	ADAM18, ADAM2 +98 more	Copy number loss	See cases	GPathogenic
Select item 60360	GRCh38/hg38 8p11.23-11.21(chr8:38342177-40546982)x1	ADAM18, ADAM2 +81 more	Copy number loss	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 2554380	NM_194294.5(IDO2):c.77G>C (p.Gly26Ala)	IDO2 (G26A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471150	NM_194294.5(IDO2):c.82C>A (p.Leu28Ile)	IDO2 (L28I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612105	NM_194294.5(IDO2):c.91G>C (p.Asp31His)	IDO2 (D31H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 154596	GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3	ANK1, AP3M2 +122 more	Copy number gain	See cases	GPathogenic
Select item 2412139	NM_194294.5(IDO2):c.109C>T (p.Pro37Ser)	IDO2 (P37S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305309	NM_194294.5(IDO2):c.121A>G (p.Arg41Gly)	IDO2 (R41G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601958	NM_194294.5(IDO2):c.143A>G (p.Asn48Ser)	IDO2 (N48S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542010	NM_194294.5(IDO2):c.160A>T (p.Ile54Phe)	IDO2 (I54F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400356	NM_194294.5(IDO2):c.181G>C (p.Ala61Pro)	IDO2 (A61P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350199	NM_194294.5(IDO2):c.192C>G (p.Asp64Glu)	IDO2 (D64E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392529	NM_194294.5(IDO2):c.232C>T (p.Arg78Trp)	IDO2 (R78W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326290	NM_194294.5(IDO2):c.242G>T (p.Arg81Leu)	IDO2 (R81L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291244	NM_194294.5(IDO2):c.284T>C (p.Val95Ala)	IDO2 (V95A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	LOC130000302, LOC130000303 +121 more	Copy number gain	See cases	GPathogenic
Select item 2603970	NM_194294.5(IDO2):c.366G>T (p.Leu122Phe)	IDO2 (L122F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1265377	NM_194294.5(IDO2):c.379A>G (p.Ile127Val)	IDO2 (I127V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2513002	NM_194294.5(IDO2):c.433G>A (p.Gly145Arg)	IDO2 (G145R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2339627	NM_194294.5(IDO2):c.438C>G (p.Phe146Leu)	IDO2 (F146L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403043	NM_194294.5(IDO2):c.481G>A (p.Gly161Arg)	IDO2 (G161R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540886	NM_194294.5(IDO2):c.504A>G (p.Ile168Met)	IDO2 (I168M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402150	NM_194294.5(IDO2):c.514G>T (p.Ala172Ser)	IDO2 (A172S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377722	NM_194294.5(IDO2):c.652T>G (p.Leu218Val)	IDO2 (L218V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408240	NM_194294.5(IDO2):c.679C>A (p.Pro227Thr)	IDO2 (P227T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350201	NM_194294.5(IDO2):c.683A>G (p.Asp228Gly)	IDO2 (D228G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327912	NM_194294.5(IDO2):c.690T>G (p.Phe230Leu)	IDO2 (F230L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1275323	NM_194294.5(IDO2):c.703C>T (p.Arg235Trp)	IDO2 (R235W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2454628	NM_194294.5(IDO2):c.793G>A (p.Gly265Ser)	IDO2 (G265S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480016	NM_194294.5(IDO2):c.1007G>A (p.Cys336Tyr)	IDO2 (C336Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317107	NM_194294.5(IDO2):c.1015G>A (p.Ala339Thr)	IDO2 (A339T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1229251	NM_194294.5(IDO2):c.1038T>A (p.Tyr346Ter)	IDO2 (Y346*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2596065	NM_194294.5(IDO2):c.1118C>T (p.Pro373Leu)	IDO2 (P373L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2658567	NM_194294.5(IDO2):c.1140G>A (p.Arg380=)	IDO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622645	NM_194294.5(IDO2):c.1181T>C (p.Val394Ala)	IDO2 (V394A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218235	NM_194294.5(IDO2):c.1216C>T (p.Arg406Cys)	IDO2 (R406C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063032	GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063030	GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2659006	GRCh37/hg19 8p11.22-11.21(chr8:38602986-41615655)x1	ADAM18, ADAM2 +16 more	Copy number loss	not provided	GPathogenic
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527427	GRCh37/hg19 8p11.22-11.21(chr8:38430146-41294984)	ADAM18, ADAM2 +11 more	Copy number loss	not specified	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	AP3M2, FAM86B1 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 815121	GRCh37/hg19 8p11.21(chr8:39856646-40562257)x4	ZMAT4, TCIM +1 more	Copy number gain	not provided	GUncertain significance
Select item 688131	GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3	ADAM18, ADAM2 +54 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	ADAM18, ADAM2 +78 more	Copy number gain	not provided	GPathogenic
Select item 563546	GRCh37/hg19 8p12-11.21(chr8:31352498-41481295)x3	ADGRA2, BAG4 +41 more	Copy number gain	not provided	GPathogenic
Select item 563486	GRCh37/hg19 8p11.21(chr8:39798955-40189425)x1	TCIM, IDO2	Copy number loss	not provided	GLikely benign
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM32, ADAM18 +186 more	Copy number gain	See cases	GPathogenic
Select item 442711	GRCh37/hg19 8p11.22-11.21(chr8:38430146-41298595)x1	ADAM18, ADAM2 +11 more	Copy number loss	See cases	GUncertain significance
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	AP3M2, ASH2L +133 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 94