IDI1[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	LOC130003185, LOC130003186 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	LINC02645, LINC02648 +496 more	Copy number gain	See cases	GPathogenic
Select item 154088	GRCh38/hg38 10p15.3(chr10:54086-1600803)x1	ADARB2, ADARB2-AS1 +54 more	Copy number loss	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150324	GRCh38/hg38 10p15.3(chr10:70478-1042794)x1	DIP2C, DIP2C-AS1 +32 more	Copy number loss	See cases	GLikely pathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC124403900, LOC124403901 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 58711	GRCh38/hg38 10p15.3(chr10:87458-2482736)x1	ADARB2, ADARB2-AS1 +66 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	LINC00700, LINC00701 +837 more	Copy number gain	See cases	GPathogenic
Select item 146280	GRCh38/hg38 10p15.3-15.2(chr10:90421-3058742)x1	ADARB2, ADARB2-AS1 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC132089789, LOC132089790 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 149271	GRCh38/hg38 10p15.3-15.2(chr10:538646-3636571)x1	ADARB2, ADARB2-AS1 +86 more	Copy number loss	See cases	GUncertain significance
Select item 57853	GRCh38/hg38 10p15.3(chr10:730608-1358880)x3	ADARB2, GTPBP4 +27 more	Copy number gain	See cases	GUncertain significance
Select item 154592	GRCh38/hg38 10p15.3(chr10:899498-1339873)x3	ADARB2, GTPBP4 +25 more	Copy number gain	See cases	GUncertain significance
Select item 148515	GRCh38/hg38 10p15.3(chr10:918720-1843751)x4	LOC130003165, LOC130003166 +37 more	Copy number gain	See cases	GLikely benign
Select item 2373975	NM_004508.4(IDI1):c.725A>C (p.Lys242Thr)	IDI2-AS1, IDI1 (K156T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218986	NM_004508.4(IDI1):c.700G>A (p.Glu234Lys)	IDI1, IDI2-AS1 (E178K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367944	NM_004508.4(IDI1):c.569G>T (p.Arg190Leu)	IDI1, IDI2-AS1 (R104L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615308	NM_004508.4(IDI1):c.534A>T (p.Glu178Asp)	IDI1, IDI2-AS1 (E178D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511241	NM_004508.4(IDI1):c.462G>C (p.Glu154Asp)	IDI1, IDI2-AS1 (E98D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287667	NM_004508.4(IDI1):c.428G>A (p.Cys143Tyr)	IDI1, IDI2-AS1 (C143Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268470	NM_004508.4(IDI1):c.233G>T (p.Cys78Phe)	IDI1, IDI2-AS1 +1 more (C22F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2364070	NM_004508.4(IDI1):c.110C>T (p.Pro37Leu)	IDI1 (P37L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2329870	NM_004508.4(IDI1):c.34G>A (p.Gly12Ser)	IDI1 (G12S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2274265	NM_004508.4(IDI1):c.26G>C (p.Arg9Pro)	IDI1 (R9P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2684591	GRCh37/hg19 10p15.3(chr10:1006757-1443180)x3	ADARB2, GTPBP4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809451	GRCh37/hg19 10p15.3(chr10:307769-1845696)x4	ADARB2, DIP2C +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808290	GRCh37/hg19 10p15.3(chr10:885585-1297727)x3	ADARB2, GTPBP4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527574	GRCh37/hg19 10p15.3(chr10:820472-1526667)	ADARB2, GTPBP4 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1339885	GRCh37/hg19 10p15.3-15.1(chr10:100027-5071398)x1	ADARB2, AKR1C1 +12 more	Copy number loss	10p15.3 microdeletion syndrome	Gnot provided
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1330170	GRCh37/hg19 10p15.3-15.1(chr10:60501-5238964)x1	ADARB2, AKR1C1 +15 more	Copy number loss	Neurooculocardiogenitourinary syndrome	GPathogenic
Select item 1077184	Single allele	AKR1C1, AKR1C2 +30 more	Deletion	not provided	GPathogenic
Select item 980370	GRCh37/hg19 10p15.3(chr10:100026-1281266)x1	WDR37, ZMYND11 +6 more	Copy number loss	not provided	GPathogenic
Select item 815311	GRCh37/hg19 10p15.3(chr10:970276-1236463)x3	IDI2, WDR37 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815309	GRCh37/hg19 10p15.3-15.1(chr10:100026-4433206)x3	IDI2, PFKP +9 more	Copy number gain	not provided	GPathogenic
Select item 688067	GRCh37/hg19 10p15.3(chr10:999613-1171064)x3	GTPBP4, IDI1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 563772	GRCh37/hg19 10p15.3(chr10:116045-1573221)x1	DIP2C, WDR37 +6 more	Copy number loss	not provided	GPathogenic
Select item 523245	GRCh37/hg19 10p15.3(chr10:751998-1748992)	ADARB2, GTPBP4 +4 more	Copy number gain	Cognitive impairment +1 more	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442761	GRCh37/hg19 10p15.3-15.1(chr10:100026-4853435)x3	ADARB2, DIP2C +9 more	Copy number gain	See cases	GUncertain significance
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	AKR1E2, ADARB2 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441537	GRCh37/hg19 10p15.3-15.1(chr10:100026-4761588)x1	ADARB2, DIP2C +9 more	Copy number loss	See cases	GPathogenic
Select item 395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	ADARB2, AKR1C1 +37 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 202235	GRCh37/hg19 10p15.3-15.1(chr10:138878-5160945)x3	IDI2, KLF6 +13 more	Copy number gain	See cases	GPathogenic

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Items: 54