ITIH1[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 2222326	NM_002215.4(ITIH1):c.6C>A (p.Asp2Glu)	ITIH1 (D2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255850	NM_002215.4(ITIH1):c.8G>A (p.Gly3Asp)	ITIH1 (G3D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596560	NM_002215.4(ITIH1):c.23G>A (p.Arg8Gln)	ITIH1 (R8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327618	NM_002215.4(ITIH1):c.40A>G (p.Met14Val)	ITIH1 (M14V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2205344	NM_002215.4(ITIH1):c.91G>C (p.Ala31Pro)	ITIH1 (A31P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465956	NM_002215.4(ITIH1):c.115G>A (p.Glu39Lys)	ITIH1 (E39K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456398	NM_002215.4(ITIH1):c.151G>A (p.Val51Met)	ITIH1, LOC126806682 (V51M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220232	NM_002215.4(ITIH1):c.161G>A (p.Arg54Gln)	ITIH1, LOC126806682 (R54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490679	NM_002215.4(ITIH1):c.208G>C (p.Val70Leu)	ITIH1, LOC126806682 (V70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618777	NM_002215.4(ITIH1):c.286T>C (p.Phe96Leu)	ITIH1, LOC126806682 (F96L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2590256	NM_002215.4(ITIH1):c.308C>T (p.Thr103Ile)	ITIH1, LOC126806682 (T103I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2332778	NM_002215.4(ITIH1):c.321C>A (p.Asn107Lys)	ITIH1, LOC126806682 (N107K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3111558	NM_002215.4(ITIH1):c.338T>A (p.Ile113Lys)	ITIH1, LOC126806682 (I113K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2602162	NM_002215.4(ITIH1):c.341A>G (p.Lys114Arg)	ITIH1, LOC126806682 (K114R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3286887	NM_002215.4(ITIH1):c.371G>A (p.Arg124Gln)	ITIH1, LOC126806682 (R124Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2489271	NM_002215.4(ITIH1):c.416C>T (p.Ser139Leu)	ITIH1, LOC129936873 (S139L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2621494	NM_002215.4(ITIH1):c.460C>A (p.Pro154Thr)	ITIH1, LOC129936873 (P154T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111559	NM_002215.4(ITIH1):c.467G>A (p.Ser156Asn)	ITIH1, LOC129936873 (S14N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215267	NM_002215.4(ITIH1):c.592G>A (p.Glu198Lys)	ITIH1 (E198K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486785	NM_002215.4(ITIH1):c.865A>G (p.Met289Val)	ITIH1 (M289V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273652	NM_002215.4(ITIH1):c.905C>T (p.Ser302Phe)	ITIH1 (S14F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402103	NM_002215.4(ITIH1):c.961G>A (p.Asp321Asn)	ITIH1 (D179N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288741	NM_002215.4(ITIH1):c.991G>T (p.Val331Phe)	ITIH1 (V189F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256650	NM_002215.4(ITIH1):c.1027T>G (p.Ser343Ala)	ITIH1 (S201A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346694	NM_002215.4(ITIH1):c.1088C>A (p.Ser363Tyr)	ITIH1 (S221Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769274	NM_002215.4(ITIH1):c.1099+9_1099+21del	ITIH1	Deletion (intron variant)	not provided	GBenign
Select item 3286881	NM_002215.4(ITIH1):c.1237C>T (p.Arg413Cys)	ITIH1 (R413C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111546	NM_002215.4(ITIH1):c.1262G>T (p.Arg421Leu)	ITIH1 (R421L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286886	NM_002215.4(ITIH1):c.1266C>A (p.Asn422Lys)	ITIH1 (N134K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302146	NM_002215.4(ITIH1):c.1273C>T (p.Arg425Trp)	ITIH1 (R425W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394705	NM_002215.4(ITIH1):c.1284C>G (p.Phe428Leu)	ITIH1 (F286L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366197	NM_002215.4(ITIH1):c.1294A>G (p.Asn432Asp)	ITIH1 (N144D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111547	NM_002215.4(ITIH1):c.1306G>A (p.Gly436Ser)	ITIH1 (G294S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529265	NM_002215.4(ITIH1):c.1312A>T (p.Asn438Tyr)	ITIH1 (N150Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111548	NM_002215.4(ITIH1):c.1337T>C (p.Val446Ala)	ITIH1 (V158A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111549	NM_002215.4(ITIH1):c.1341G>T (p.Met447Ile)	ITIH1 (M305I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523799	NM_002215.4(ITIH1):c.1357G>A (p.Gly453Arg)	ITIH1 (G165R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255481	NM_002215.4(ITIH1):c.1432C>T (p.Pro478Ser)	ITIH1 (P478S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708310	NM_002215.4(ITIH1):c.1467G>A (p.Gln489=)	ITIH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3111550	NM_002215.4(ITIH1):c.1471G>T (p.Ala491Ser)	ITIH1 (A491S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344648	NM_002215.4(ITIH1):c.1492A>G (p.Asn498Asp)	ITIH1 (N498D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458952	NM_002215.4(ITIH1):c.1537G>A (p.Gly513Arg)	ITIH1 (G513R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368398	NM_002215.4(ITIH1):c.1545T>G (p.Ile515Met)	ITIH1 (I515M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263237	NM_002215.4(ITIH1):c.1588C>T (p.His530Tyr)	ITIH1 (H530Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225994	NM_002215.4(ITIH1):c.1655G>A (p.Arg552Gln)	ITIH1 (R410Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2246067	NM_002215.4(ITIH1):c.1679A>G (p.Asn560Ser)	ITIH1 (N272S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520800	NM_002215.4(ITIH1):c.1690C>T (p.Arg564Cys)	ITIH1 (R422C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286883	NM_002215.4(ITIH1):c.1694T>C (p.Leu565Pro)	ITIH1 (L423P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 487489	NM_002215.4(ITIH1):c.1754A>T (p.Glu585Val)	ITIH1 (E585V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 487488	NM_002215.4(ITIH1):c.1754= (p.Glu585=)	ITIH1	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 14799	ITIH1*3	ITIH1 (Q595R +2 more)	Single nucleotide variant (no sequence alteration +1 more)	INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM	GBenign
Select item 14798	ITIH1*2	ITIH1 (E585V +5 more)	Single nucleotide variant (missense variant)	INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM	GBenign
Select item 14797	ITIH1*1	ITIH1	Single nucleotide variant (no sequence alteration)	INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM	GBenign
Select item 3286885	NM_002215.4(ITIH1):c.1756A>T (p.Arg586Trp)	ITIH1 (R298W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 487491	NM_002215.4(ITIH1):c.1784= (p.Gln595=)	ITIH1	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 487490	NM_002215.4(ITIH1):c.1784A>G (p.Gln595Arg)	ITIH1 (Q595R +2 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2569296	NM_002215.4(ITIH1):c.1814C>G (p.Pro605Arg)	ITIH1 (P317R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111551	NM_002215.4(ITIH1):c.1907T>A (p.Met636Lys)	ITIH1 (M636K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556498	NM_002215.4(ITIH1):c.1973A>G (p.Asn658Ser)	ITIH1 (N370S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111552	NM_002215.4(ITIH1):c.2035G>A (p.Val679Met)	ITIH1 (V391M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367658	NM_002215.4(ITIH1):c.2072A>G (p.Asn691Ser)	ITIH1 (N403S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111553	NM_002215.4(ITIH1):c.2110C>T (p.Pro704Ser)	ITIH1 (P416S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111554	NM_002215.4(ITIH1):c.2168G>T (p.Gly723Val)	ITIH1 (G581V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286889	NM_002215.4(ITIH1):c.2179G>A (p.Gly727Ser)	ITIH1 (G727S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286884	NM_002215.4(ITIH1):c.2188T>G (p.Phe730Val)	ITIH1 (F588V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611752	NM_002215.4(ITIH1):c.2191G>A (p.Gly731Arg)	ITIH1 (G443R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513858	NM_002215.4(ITIH1):c.2194C>T (p.Arg732Trp)	ITIH1 (R590W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588374	NM_002215.4(ITIH1):c.2195G>A (p.Arg732Gln)	ITIH1 (R732Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524078	NM_002215.4(ITIH1):c.2255C>T (p.Thr752Met)	ITIH1 (T752M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548912	NM_002215.4(ITIH1):c.2301A>T (p.Gln767His)	ITIH1 (Q767H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401144	NM_002215.4(ITIH1):c.2312G>A (p.Arg771Gln)	ITIH1 (R629Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767913	NM_002215.4(ITIH1):c.2315A>T (p.Gln772Leu)	ITIH1 (Q484L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 721251	NM_002215.4(ITIH1):c.2370C>T (p.Asp790=)	ITIH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2464508	NM_002215.4(ITIH1):c.2371G>A (p.Asp791Asn)	ITIH1 (D649N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347765	NM_002215.4(ITIH1):c.2374G>A (p.Gly792Ser)	ITIH1 (G504S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520655	NM_002215.4(ITIH1):c.2378G>A (p.Gly793Asp)	ITIH1 (G793D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384964	NM_002215.4(ITIH1):c.2402G>A (p.Arg801Gln)	ITIH1 (R801Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388497	NM_002215.4(ITIH1):c.2447A>G (p.Tyr816Cys)	ITIH1 (Y528C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369262	NM_002215.4(ITIH1):c.2464C>T (p.Arg822Trp)	ITIH1 (R534W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111556	NM_002215.4(ITIH1):c.2469G>A (p.Met823Ile)	ITIH1 (M681I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516566	NM_002215.4(ITIH1):c.2477G>A (p.Arg826Gln)	ITIH1 (R684Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595182	NM_002215.4(ITIH1):c.2506C>T (p.His836Tyr)	ITIH1 (H548Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400228	NM_002215.4(ITIH1):c.2507A>G (p.His836Arg)	ITIH1 (H548R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456464	NM_002215.4(ITIH1):c.2570C>T (p.Thr857Met)	ITIH1 (T569M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286888	NM_002215.4(ITIH1):c.2584A>G (p.Asn862Asp)	ITIH1 (N574D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214638	NM_002215.4(ITIH1):c.2636C>T (p.Pro879Leu)	ITIH1 (P737L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352592	NM_002215.4(ITIH1):c.2642A>G (p.His881Arg)	ITIH1 (H593R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2427145	NC_000003.11:g.(?_52109903)_(53164416_?)del	ALAS1, BAP1 +28 more	Deletion	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2423375	NC_000003.11:g.(?_52018081)_(53845433_?)del	ACY1, ALAS1 +35 more	Deletion	not provided	GUncertain significance
Select item 1808546	GRCh37/hg19 3p21.1(chr3:52783975-53418893)x3	DCP1A, ITIH1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808533	GRCh37/hg19 3p21.1(chr3:52780509-53418869)x3	DCP1A, ITIH1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 687764	GRCh37/hg19 3p21.2-21.1(chr3:52195134-52869037)x1	ALAS1, BAP1 +24 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 100