ITIH2[gene] - ClinVar

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Items: 76

	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 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
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 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	LINC00700, LINC00701 +837 more	Copy number gain	See cases	GPathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC132089789, LOC132089790 +421 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 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	LOC130003254, LOC130003255 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 2384204	NM_002216.3(ITIH2):c.55T>C (p.Phe19Leu)	ITIH2 (F19L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539331	NM_002216.3(ITIH2):c.92A>T (p.Asp31Val)	ITIH2 (D31V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373956	NM_002216.3(ITIH2):c.139G>A (p.Ala47Thr)	ITIH2 (A47T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409194	NM_002216.3(ITIH2):c.149G>A (p.Arg50Gln)	ITIH2 (R50Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2480631	NM_002216.3(ITIH2):c.226A>G (p.Lys76Glu)	ITIH2 (K76E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509610	NM_002216.3(ITIH2):c.250C>T (p.Arg84Trp)	ITIH2 (R84W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314916	NM_002216.3(ITIH2):c.331C>T (p.Pro111Ser)	ITIH2 (P111S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411267	NM_002216.3(ITIH2):c.338G>C (p.Gly113Ala)	ITIH2 (G113A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208505	NM_002216.3(ITIH2):c.353A>G (p.Asn118Ser)	ITIH2 (N118S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488379	NM_002216.3(ITIH2):c.418G>C (p.Ala140Pro)	ITIH2 (A140P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375403	NM_002216.3(ITIH2):c.500C>T (p.Thr167Met)	ITIH2 (T167M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214953	NM_002216.3(ITIH2):c.610C>T (p.Arg204Trp)	ITIH2 (R204W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599583	NM_002216.3(ITIH2):c.679C>T (p.Pro227Ser)	ITIH2 (P227S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366578	NM_002216.3(ITIH2):c.794G>A (p.Arg265Gln)	ITIH2 (R265Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497730	NM_002216.3(ITIH2):c.849G>T (p.Glu283Asp)	ITIH2 (E283D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2467103	NM_002216.3(ITIH2):c.899C>A (p.Ala300Asp)	ITIH2 (A300D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478166	NM_002216.3(ITIH2):c.1006A>G (p.Ile336Val)	ITIH2 (I336V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399954	NM_002216.3(ITIH2):c.1025C>T (p.Ala342Val)	ITIH2 (A342V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346479	NM_002216.3(ITIH2):c.1154G>A (p.Gly385Asp)	ITIH2 (G385D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214353	NM_002216.3(ITIH2):c.1186A>G (p.Ile396Val)	ITIH2 (I396V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569213	NM_002216.3(ITIH2):c.1205C>A (p.Ala402Asp)	ITIH2 (A402D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395356	NM_002216.3(ITIH2):c.1237G>A (p.Val413Ile)	ITIH2 (V413I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509018	NM_002216.3(ITIH2):c.1312G>A (p.Val438Ile)	ITIH2 (V438I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2640294	NM_002216.3(ITIH2):c.1524A>G (p.Thr508=)	ITIH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2395038	NM_002216.3(ITIH2):c.1536C>A (p.Asp512Glu)	ITIH2 (D512E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611318	NM_002216.3(ITIH2):c.1637C>T (p.Thr546Met)	ITIH2 (T546M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406386	NM_002216.3(ITIH2):c.1690G>A (p.Asp564Asn)	ITIH2 (D564N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301729	NM_002216.3(ITIH2):c.1716C>G (p.Asp572Glu)	ITIH2 (D572E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588278	NM_002216.3(ITIH2):c.1791C>A (p.Ser597Arg)	ITIH2 (S597R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380154	NM_002216.3(ITIH2):c.1871C>T (p.Pro624Leu)	ITIH2 (P624L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205985	NM_002216.3(ITIH2):c.1918C>G (p.Leu640Val)	ITIH2 (L640V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227867	NM_002216.3(ITIH2):c.1927G>A (p.Ala643Thr)	ITIH2 (A643T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624181	NM_002216.3(ITIH2):c.1930C>T (p.Pro644Ser)	ITIH2 (P644S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384403	NM_002216.3(ITIH2):c.2029G>A (p.Val677Met)	ITIH2 (V677M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246206	NM_002216.3(ITIH2):c.2131A>G (p.Lys711Glu)	ITIH2 (K711E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387441	NM_002216.3(ITIH2):c.2213T>C (p.Ile738Thr)	ITIH2 (I738T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412369	NM_002216.3(ITIH2):c.2268C>A (p.Ser756Arg)	ITIH2 (S756R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256018	NM_002216.3(ITIH2):c.2329A>G (p.Thr777Ala)	ITIH2 (T777A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321752	NM_002216.3(ITIH2):c.2354G>T (p.Gly785Val)	ITIH2 (G785V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402643	NM_002216.3(ITIH2):c.2401A>G (p.Asn801Asp)	ITIH2 (N801D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357375	NM_002216.3(ITIH2):c.2411T>G (p.Val804Gly)	ITIH2 (V804G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346850	NM_002216.3(ITIH2):c.2427G>C (p.Lys809Asn)	ITIH2 (K809N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487467	NM_002216.3(ITIH2):c.2444C>T (p.Thr815Ile)	ITIH2 (T815I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544295	NM_002216.3(ITIH2):c.2471T>C (p.Phe824Ser)	ITIH2 (F824S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270579	NM_002216.3(ITIH2):c.2572G>A (p.Gly858Arg)	ITIH2 (G858R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545699	NM_002216.3(ITIH2):c.2774G>T (p.Gly925Val)	ITIH2 (G925V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809339	GRCh37/hg19 10p14(chr10:7636590-11590970)x3	ATP5F1C, CELF2 +6 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 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
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 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 686098	GRCh37/hg19 10p14(chr10:7663004-7922532)x1	ATP5F1C, ITIH2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 563731	GRCh37/hg19 10p14(chr10:7443156-7768620)x3	ITIH2, ITIH5 +1 more	Copy number gain	not provided	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 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 395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	ADARB2, AKR1C1 +37 more	Copy number loss	See cases	GPathogenic
Select item 394756	GRCh37/hg19 10p14(chr10:7377293-9129131)x1	ATP5F1C, GATA3 +5 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 253524	GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1	AKR1E2, GATA3 +29 more	Copy number loss	See cases	GPathogenic

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Items: 76