ClinVar for Gene (Select 3700) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3286916	NM_002218.5(ITIH4):c.1825A>T (p.Met609Leu)	ITIH4 (M609L)	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 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 3286911	NM_002218.5(ITIH4):c.1682T>C (p.Val561Ala)	ITIH4 (V561A)	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 3286909	NM_002218.5(ITIH4):c.1343T>C (p.Leu448Pro)	ITIH4 (L448P)	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 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 3111609	NM_002218.5(ITIH4):c.446T>A (p.Leu149Gln)	ITIH4 (L149Q)	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 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 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 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 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 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 3111600	NM_002218.5(ITIH4):c.185A>G (p.Asn62Ser)	ITIH4 (N62S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 3060681	NM_002218.5(ITIH4):c.390G>A (p.Val130=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GBenign
Select item 3060455	NM_002218.5(ITIH4):c.2723+7T>C	ITIH4	Single nucleotide variant (intron variant)	ITIH4-related disorder	GBenign
Select item 3060430	NM_002218.5(ITIH4):c.24T>C (p.Arg8=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GBenign
Select item 3060371	NM_002218.5(ITIH4):c.75T>C (p.Thr25=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GBenign
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 3059539	NM_002218.5(ITIH4):c.2296+8A>G	ITIH4	Single nucleotide variant (intron variant)	ITIH4-related disorder	GBenign
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 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 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 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 3059195	NM_002218.5(ITIH4):c.2226T>C (p.Ser742=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GBenign
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 3051384	NM_002218.5(ITIH4):c.252-4C>G	ITIH4	Single nucleotide variant (intron variant)	ITIH4-related disorder	GLikely benign
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 3038185	NM_002218.5(ITIH4):c.45C>T (p.Val15=)	ITIH4	Single nucleotide variant (synonymous variant)	ITIH4-related disorder	GLikely benign
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 3036187	NM_002218.5(ITIH4):c.760-7G>T	ITIH4, ITIH4-AS1	Single nucleotide variant (intron variant)	ITIH4-related disorder	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 2562337	NM_002218.5(ITIH4):c.1601A>G (p.Gln534Arg)	ITIH4 (Q534R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2546006	NM_002218.5(ITIH4):c.1633G>A (p.Glu545Lys)	ITIH4 (E545K)	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 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 2515495	NM_002218.5(ITIH4):c.454C>T (p.Arg152Trp)	ITIH4 (R152W)	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 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 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 2489434	NM_002218.5(ITIH4):c.1426G>C (p.Glu476Gln)	ITIH4 (E476Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 2392019	NM_002218.5(ITIH4):c.1522A>G (p.Thr508Ala)	ITIH4 (T508A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 2326860	NM_002218.5(ITIH4):c.167G>A (p.Arg56Gln)	ITIH4 (R56Q)	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 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 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 2300627	NM_002218.5(ITIH4):c.708C>A (p.Asn236Lys)	ITIH4 (N236K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2262809	NM_002218.5(ITIH4):c.1447C>T (p.Arg483Trp)	ITIH4 (R483W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 2221649	NM_002218.5(ITIH4):c.749G>A (p.Gly250Asp)	ITIH4 (G250D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 791930	NM_002218.5(ITIH4):c.2180-3C>T	ITIH4	Single nucleotide variant (intron 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 781970	NM_002218.5(ITIH4):c.450C>T (p.Leu150=)	ITIH4	Single nucleotide variant (synonymous variant)	not provided	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 770531	NM_002218.5(ITIH4):c.363C>T (p.Thr121=)	ITIH4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 756642	NM_002218.5(ITIH4):c.492G>A (p.Arg164=)	ITIH4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748950	NM_002218.5(ITIH4):c.2184C>T (p.Pro728=)	ITIH4	Single nucleotide variant (synonymous variant)	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 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
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 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 9042	NM_002218.5(ITIH4):c.2077+8G>A	ITIH4	Single nucleotide variant (intron variant)	Hypercholesterolemia, susceptibility to	GBenign

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Links from Gene

Items: 99