ITIH4[gene] - ClinVar

Search results

Items: 99

	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 2268903	NM_002218.5(ITIH4):c.2761G>A (p.Val921Met)	ITIH4 (V921M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111608	NM_002218.5(ITIH4):c.2750G>C (p.Gly917Ala)	ITIH4 (G887A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060455	NM_002218.5(ITIH4):c.2723+7T>C	ITIH4	Single nucleotide variant (intron variant)	ITIH4-related disorder	GBenign
Select item 776472	NM_002218.5(ITIH4):c.2677G>A (p.Gly893Ser)	ITIH4 (G863S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2247800	NM_002218.5(ITIH4):c.2611G>A (p.Val871Ile)	ITIH4 (V841I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350755	NM_002218.5(ITIH4):c.2585G>A (p.Arg862His)	ITIH4 (R862H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223877	NM_002218.5(ITIH4):c.2584C>G (p.Arg862Gly)	ITIH4 (R832G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464393	NM_002218.5(ITIH4):c.2573G>A (p.Arg858Gln)	ITIH4 (R858Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111607	NM_002218.5(ITIH4):c.2558G>T (p.Arg853Leu)	ITIH4 (R823L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111606	NM_002218.5(ITIH4):c.2558G>A (p.Arg853His)	ITIH4 (R853H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207964	NM_002218.5(ITIH4):c.2557C>T (p.Arg853Cys)	ITIH4 (R823C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559792	NM_002218.5(ITIH4):c.2548T>C (p.Trp850Arg)	ITIH4 (W820R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286913	NM_002218.5(ITIH4):c.2525A>G (p.Lys842Arg)	ITIH4 (K812R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3111605	NM_002218.5(ITIH4):c.2497G>A (p.Gly833Ser)	ITIH4 (G833S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286910	NM_002218.5(ITIH4):c.2426G>A (p.Ser809Asn)	ITIH4 (S809N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2483234	NM_002218.5(ITIH4):c.2416A>C (p.Asn806His)	ITIH4 (N806H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312428	NM_002218.5(ITIH4):c.2398C>A (p.His800Asn)	ITIH4 (H770N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059492	NM_002218.5(ITIH4):c.2372T>C (p.Leu791Pro)	ITIH4 (L761P +1 more)	Single nucleotide variant (missense variant)	ITIH4-related disorder	GBenign
Select item 3059539	NM_002218.5(ITIH4):c.2296+8A>G	ITIH4	Single nucleotide variant (intron variant)	ITIH4-related disorder	GBenign
Select item 2303453	NM_002218.5(ITIH4):c.2263G>T (p.Gly755Trp)	ITIH4 (G725W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111604	NM_002218.5(ITIH4):c.2257C>T (p.Arg753Cys)	ITIH4 (R723C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111603	NM_002218.5(ITIH4):c.2234G>A (p.Arg745Gln)	ITIH4 (R715Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3059195	NM_002218.5(ITIH4):c.2226T>C (p.Ser742=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GBenign
Select item 2350397	NM_002218.5(ITIH4):c.2222A>T (p.Gln741Leu)	ITIH4 (Q711L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748950	NM_002218.5(ITIH4):c.2184C>T (p.Pro728=)	ITIH4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 791930	NM_002218.5(ITIH4):c.2180-3C>T	ITIH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3111602	NM_002218.5(ITIH4):c.2149G>A (p.Glu717Lys)	ITIH4 (E687K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3059503	NM_002218.5(ITIH4):c.2142G>C (p.Met714Ile)	ITIH4 (M684I +1 more)	Single nucleotide variant (missense variant)	ITIH4-related disorder	GBenign
Select item 2554075	NM_002218.5(ITIH4):c.2129G>T (p.Arg710Leu)	ITIH4 (R680L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059528	NM_002218.5(ITIH4):c.2092C>A (p.Pro698Thr)	ITIH4 (P668T +1 more)	Single nucleotide variant (missense variant)	ITIH4-related disorder	GBenign
Select item 9042	NM_002218.5(ITIH4):c.2077+8G>A	ITIH4	Single nucleotide variant (intron variant)	Hypercholesterolemia, susceptibility to	GBenign
Select item 2508054	NM_002218.5(ITIH4):c.2063G>A (p.Arg688His)	ITIH4 (R688H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3353034	NM_002218.5(ITIH4):c.2055C>T (p.His685=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GLikely benign
Select item 3059222	NM_002218.5(ITIH4):c.2006A>T (p.Gln669Leu)	ITIH4 (Q639L +1 more)	Single nucleotide variant (missense variant)	ITIH4-related disorder	GBenign
Select item 3111601	NM_002218.5(ITIH4):c.1970G>A (p.Arg657Gln)	ITIH4 (R657Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479207	NM_002218.5(ITIH4):c.1919C>T (p.Ser640Phe)	ITIH4 (S640F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286916	NM_002218.5(ITIH4):c.1825A>T (p.Met609Leu)	ITIH4 (M609L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286911	NM_002218.5(ITIH4):c.1682T>C (p.Val561Ala)	ITIH4 (V561A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546006	NM_002218.5(ITIH4):c.1633G>A (p.Glu545Lys)	ITIH4 (E545K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562337	NM_002218.5(ITIH4):c.1601A>G (p.Gln534Arg)	ITIH4 (Q534R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392019	NM_002218.5(ITIH4):c.1522A>G (p.Thr508Ala)	ITIH4 (T508A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045300	NM_002218.5(ITIH4):c.1512G>A (p.Val504=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GLikely benign
Select item 2208093	NM_002218.5(ITIH4):c.1499G>A (p.Arg500Gln)	ITIH4 (R500Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591295	NM_002218.5(ITIH4):c.1448G>A (p.Arg483Gln)	ITIH4 (R483Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262809	NM_002218.5(ITIH4):c.1447C>T (p.Arg483Trp)	ITIH4 (R483W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489434	NM_002218.5(ITIH4):c.1426G>C (p.Glu476Gln)	ITIH4 (E476Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286909	NM_002218.5(ITIH4):c.1343T>C (p.Leu448Pro)	ITIH4 (L448P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541287	NM_002218.5(ITIH4):c.1315C>A (p.Arg439Ser)	ITIH4 (R439S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111598	NM_002218.5(ITIH4):c.1312C>T (p.Arg438Trp)	ITIH4 (R438W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111597	NM_002218.5(ITIH4):c.1303G>A (p.Gly435Ser)	ITIH4 (G435S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111596	NM_002218.5(ITIH4):c.1300G>A (p.Gly434Ser)	ITIH4 (G434S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509882	NM_002218.5(ITIH4):c.1226G>A (p.Arg409Gln)	ITIH4, ITIH4-AS1 (R409Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2495730	NM_002218.5(ITIH4):c.1225C>T (p.Arg409Trp)	ITIH4, ITIH4-AS1 (R409W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 770530	NM_002218.5(ITIH4):c.1209G>A (p.Arg403=)	ITIH4, ITIH4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 712701	NM_002218.5(ITIH4):c.1204G>A (p.Val402Met)	ITIH4, ITIH4-AS1 (V402M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 764000	NM_002218.5(ITIH4):c.1155T>C (p.Asp385=)	ITIH4, ITIH4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3036958	NM_002218.5(ITIH4):c.1152C>T (p.Thr384=)	ITIH4, ITIH4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ITIH4-related disorder	GLikely benign
Select item 2287849	NM_002218.5(ITIH4):c.1112G>A (p.Arg371Gln)	ITIH4, ITIH4-AS1 (R371Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2528480	NM_002218.5(ITIH4):c.1072A>G (p.Met358Val)	ITIH4, ITIH4-AS1 (M358V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2362710	NM_002218.5(ITIH4):c.1025C>T (p.Ala342Val)	ITIH4, ITIH4-AS1 (A342V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232100	NM_002218.5(ITIH4):c.1000G>A (p.Val334Met)	ITIH4, ITIH4-AS1 (V334M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111612	NM_002218.5(ITIH4):c.812T>C (p.Met271Thr)	ITIH4, ITIH4-AS1 (M271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286912	NM_002218.5(ITIH4):c.811A>G (p.Met271Val)	ITIH4, ITIH4-AS1 (M271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471153	NM_002218.5(ITIH4):c.797A>G (p.Glu266Gly)	ITIH4, ITIH4-AS1 (E266G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036187	NM_002218.5(ITIH4):c.760-7G>T	ITIH4, ITIH4-AS1	Single nucleotide variant (intron variant)	ITIH4-related disorder	GLikely benign
Select item 2221649	NM_002218.5(ITIH4):c.749G>A (p.Gly250Asp)	ITIH4 (G250D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300627	NM_002218.5(ITIH4):c.708C>A (p.Asn236Lys)	ITIH4 (N236K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324080	NM_002218.5(ITIH4):c.558T>G (p.Phe186Leu)	ITIH4 (F186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756642	NM_002218.5(ITIH4):c.492G>A (p.Arg164=)	ITIH4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3111611	NM_002218.5(ITIH4):c.463G>T (p.Gly155Trp)	ITIH4 (G155W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111610	NM_002218.5(ITIH4):c.455G>A (p.Arg152Gln)	ITIH4 (R152Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515495	NM_002218.5(ITIH4):c.454C>T (p.Arg152Trp)	ITIH4 (R152W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781970	NM_002218.5(ITIH4):c.450C>T (p.Leu150=)	ITIH4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3111609	NM_002218.5(ITIH4):c.446T>A (p.Leu149Gln)	ITIH4 (L149Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060681	NM_002218.5(ITIH4):c.390G>A (p.Val130=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GBenign
Select item 770531	NM_002218.5(ITIH4):c.363C>T (p.Thr121=)	ITIH4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785863	NM_002218.5(ITIH4):c.352G>A (p.Val118Ile)	ITIH4 (V118I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2370373	NM_002218.5(ITIH4):c.319G>A (p.Ala107Thr)	ITIH4 (A107T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3060123	NM_002218.5(ITIH4):c.254T>A (p.Ile85Asn)	ITIH4 (I85N)	Single nucleotide variant (missense variant)	ITIH4-related disorder	GBenign
Select item 3051384	NM_002218.5(ITIH4):c.252-4C>G	ITIH4	Single nucleotide variant (intron variant)	ITIH4-related disorder	GLikely benign
Select item 3111600	NM_002218.5(ITIH4):c.185A>G (p.Asn62Ser)	ITIH4 (N62S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326860	NM_002218.5(ITIH4):c.167G>A (p.Arg56Gln)	ITIH4 (R56Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058395	NM_002218.5(ITIH4):c.117C>T (p.Thr39=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GLikely benign
Select item 3060371	NM_002218.5(ITIH4):c.75T>C (p.Thr25=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GBenign
Select item 3038185	NM_002218.5(ITIH4):c.45C>T (p.Val15=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GLikely benign
Select item 3060430	NM_002218.5(ITIH4):c.24T>C (p.Arg8=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GBenign
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

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: 99