IDI2-AS1[gene] - ClinVar

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Items: 37

	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 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 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

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Items: 37