IDI2[gene] - ClinVar

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Items: 68

	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 3285256	NM_033261.3(IDI2):c.650C>T (p.Pro217Leu)	GTPBP4, IDI2 (P217L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2257379	NM_033261.3(IDI2):c.627G>T (p.Trp209Cys)	GTPBP4, IDI2 (W209C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3108042	NM_033261.3(IDI2):c.620G>A (p.Arg207Gln)	GTPBP4, IDI2 (R207Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2252287	NM_033261.3(IDI2):c.609G>T (p.Arg203Ser)	GTPBP4, IDI2 (R203S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2266803	NM_033261.3(IDI2):c.599T>C (p.Ile200Thr)	GTPBP4, IDI2 (I200T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2321611	NM_033261.3(IDI2):c.555G>C (p.Arg185Ser)	GTPBP4, IDI2 (R185S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2477416	NM_033261.3(IDI2):c.479C>T (p.Thr160Ile)	GTPBP4, IDI2 (T160I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3108041	NM_033261.3(IDI2):c.410A>T (p.Lys137Met)	GTPBP4, IDI2 (K137M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3108040	NM_033261.3(IDI2):c.359G>C (p.Gly120Ala)	IDI2 (G120A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108039	NM_033261.3(IDI2):c.332G>A (p.Arg111His)	IDI2 (R111H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2601973	NM_033261.3(IDI2):c.310G>T (p.Val104Leu)	IDI2 (V104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588022	NM_033261.3(IDI2):c.305T>C (p.Ile102Thr)	IDI2 (I102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108038	NM_033261.3(IDI2):c.298G>C (p.Asp100His)	IDI2 (D100H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365161	NM_033261.3(IDI2):c.223G>A (p.Val75Ile)	IDI2, IDI2-AS1 (V75I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3108037	NM_033261.3(IDI2):c.220A>G (p.Lys74Glu)	IDI2, IDI2-AS1 (K74E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3108036	NM_033261.3(IDI2):c.191G>A (p.Arg64Gln)	IDI2, IDI2-AS1 (R64Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2320669	NM_033261.3(IDI2):c.164G>A (p.Ser55Asn)	IDI2, IDI2-AS1 (S55N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2387358	NM_033261.3(IDI2):c.155G>A (p.Arg52Gln)	IDI2, IDI2-AS1 (R52Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2525782	NM_033261.3(IDI2):c.151C>T (p.His51Tyr)	IDI2, IDI2-AS1 (H51Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2600569	NM_033261.3(IDI2):c.110G>A (p.Arg37Lys)	IDI2, IDI2-AS1 (R37K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108043	NM_033261.3(IDI2):c.94G>C (p.Gly32Arg)	IDI2, IDI2-AS1 (G32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611574	NM_033261.3(IDI2):c.92T>C (p.Ile31Thr)	IDI2, IDI2-AS1 (I31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298412	NM_033261.3(IDI2):c.30C>G (p.Asp10Glu)	IDI2, IDI2-AS1 (D10E)	Single nucleotide variant (missense variant)	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

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Items: 68