IDI1[gene] - ClinVar

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

Search results

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +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	LOC130003277, LOC130003278 +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	ACBD7, ACBD7-DCLRE1CP1 +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	LOC130003153, LOC130003154 +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	ADARB2, ADARB2-AS1 +37 more	Copy number gain	See cases	GLikely benign
Select item 2373975	NM_004508.4(IDI1):c.725A>C (p.Lys242Thr)	IDI1, IDI2-AS1 (K156T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3108035	NM_004508.4(IDI1):c.656A>C (p.Asn219Thr)	IDI1, IDI2-AS1 (N133T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3108032	NM_004508.4(IDI1):c.211G>C (p.Val71Leu)	IDI1, IDI2-AS1 +1 more (V15L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2364070	NM_004508.4(IDI1):c.110C>T (p.Pro37Leu)	IDI1 (P37L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3285255	NM_004508.4(IDI1):c.94G>C (p.Gly32Arg)	IDI1 (G32R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3108034	NM_004508.4(IDI1):c.59A>G (p.Gln20Arg)	IDI1 (Q20R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2329870	NM_004508.4(IDI1):c.34G>A (p.Gly12Ser)	IDI1 (G12S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2274265	NM_004508.4(IDI1):c.26G>C (p.Arg9Pro)	IDI1 (R9P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3108033	NM_004508.4(IDI1):c.23C>G (p.Ala8Gly)	IDI1 (A8G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148908	GRCh37/hg19 10p15.3(chr10:100048-1247374)x1	ADARB2, DIP2C +6 more	Copy number loss	See cases	GPathogenic
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	ARL5B, LARP4B +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	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441537	GRCh37/hg19 10p15.3-15.1(chr10:100026-4761588)x1	LARP4B, IDI2 +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, ABCC2 +722 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

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: 60