CIDEB[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 2362214	NM_001393339.1(CIDEB):c.622G>A (p.Glu208Lys)	CIDEB, NOP9 (E208K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2239430	NM_001393339.1(CIDEB):c.607G>C (p.Ala203Pro)	CIDEB, NOP9 (A153P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2280230	NM_001393339.1(CIDEB):c.521T>C (p.Val174Ala)	CIDEB, NOP9 (V124A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144983	NM_001393339.1(CIDEB):c.431G>A (p.Arg144Gln)	CIDEB, NOP9 (R144Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3267351	NM_001393339.1(CIDEB):c.293G>A (p.Cys98Tyr)	CIDEB, NOP9 (C98Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3267349	NM_001393339.1(CIDEB):c.247G>A (p.Ala83Thr)	CIDEB, NOP9 (A83T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2588034	NM_001393339.1(CIDEB):c.188C>A (p.Ala63Glu)	CIDEB, NOP9 (A63E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2214611	NM_001393339.1(CIDEB):c.173A>G (p.Glu58Gly)	CIDEB, NOP9 (E58G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144982	NM_001393339.1(CIDEB):c.172G>A (p.Glu58Lys)	CIDEB, NOP9 (E58K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2244197	NM_001393339.1(CIDEB):c.143G>A (p.Arg48Gln)	CIDEB, NOP9 (R48Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2227097	NM_001393339.1(CIDEB):c.142C>T (p.Arg48Trp)	CIDEB, NOP9 (R48W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2320251	NM_001393339.1(CIDEB):c.116G>A (p.Arg39His)	CIDEB, NOP9 (R39H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2286863	NM_001393339.1(CIDEB):c.115C>T (p.Arg39Cys)	CIDEB, NOP9 (R39C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144981	NM_001393339.1(CIDEB):c.109C>A (p.Pro37Thr)	CIDEB, NOP9 (P37T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144985	NM_001393339.1(CIDEB):c.74G>A (p.Arg25Gln)	CIDEB, NOP9 (R25Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3267350	NM_001393339.1(CIDEB):c.73C>T (p.Arg25Trp)	CIDEB, NOP9 (R25W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144984	NM_001393339.1(CIDEB):c.68T>C (p.Phe23Ser)	CIDEB, NOP9 (F23S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2327453	NM_019839.5(LTB4R2):c.48G>C (p.Trp16Cys)	CIDEB, LTB4R2 (W16C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2266286	NM_019839.5(LTB4R2):c.65C>T (p.Thr22Ile)	CIDEB, LTB4R2 (T22I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2515819	NM_019839.5(LTB4R2):c.107C>T (p.Pro36Leu)	CIDEB, LTB4R2 (P36L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3292199	NM_019839.5(LTB4R2):c.121G>C (p.Val41Leu)	CIDEB, LTB4R2 (V41L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2339611	NM_019839.5(LTB4R2):c.125T>C (p.Val42Ala)	CIDEB, LTB4R2 (V42A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3292197	NM_019839.5(LTB4R2):c.155G>C (p.Arg52Pro)	CIDEB, LTB4R2 (R52P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2609356	NM_019839.5(LTB4R2):c.155G>A (p.Arg52Gln)	CIDEB, LTB4R2 (R52Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3292192	NM_019839.5(LTB4R2):c.170C>T (p.Ala57Val)	CIDEB, LTB4R2 (A57V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3121388	NM_019839.5(LTB4R2):c.176C>A (p.Thr59Lys)	CIDEB, LTB4R2 (T59K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2223737	NM_019839.5(LTB4R2):c.194C>T (p.Ala65Val)	CIDEB, LTB4R2 (A65V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3292196	NM_019839.5(LTB4R2):c.208G>A (p.Ala70Thr)	CIDEB, LTB4R2 (A70T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2485996	NM_019839.5(LTB4R2):c.209C>T (p.Ala70Val)	CIDEB, LTB4R2 (A70V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2494502	NM_019839.5(LTB4R2):c.248C>T (p.Thr83Ile)	CIDEB, LTB4R2 (T83I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2232291	NM_019839.5(LTB4R2):c.266T>G (p.Leu89Arg)	CIDEB, LTB4R2 (L89R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2534258	NM_019839.5(LTB4R2):c.304G>A (p.Ala102Thr)	CIDEB, LTB4R2 (A102T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2534259	NM_019839.5(LTB4R2):c.337G>T (p.Gly113Cys)	CIDEB, LOC130055420 +1 more (G113C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2534260	NM_019839.5(LTB4R2):c.338G>C (p.Gly113Ala)	CIDEB, LOC130055420 +1 more (G113A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2356853	NM_019839.5(LTB4R2):c.376C>T (p.Pro126Ser)	CIDEB, LOC130055420 +1 more (P126S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3292198	NM_019839.5(LTB4R2):c.385G>T (p.Ala129Ser)	CIDEB, LOC130055420 +1 more (A129S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 712146	NM_019839.5(LTB4R2):c.388C>T (p.Pro130Ser)	CIDEB, LOC130055420 +1 more (P130S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3121390	NM_019839.5(LTB4R2):c.391C>T (p.Arg131Trp)	CIDEB, LOC130055420 +1 more (R131W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3121391	NM_019839.5(LTB4R2):c.392G>A (p.Arg131Gln)	CIDEB, LOC130055420 +1 more (R131Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3121392	NM_019839.5(LTB4R2):c.437G>C (p.Trp146Ser)	CIDEB, LTB4R2 (W146S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3292200	NM_019839.5(LTB4R2):c.454C>T (p.Leu152Phe)	CIDEB, LTB4R2 (L152F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2396315	NM_019839.5(LTB4R2):c.460G>C (p.Val154Leu)	CIDEB, LTB4R2 (V154L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3121393	NM_019839.5(LTB4R2):c.464C>T (p.Pro155Leu)	CIDEB, LTB4R2 (P155L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3292195	NM_019839.5(LTB4R2):c.467C>T (p.Ala156Val)	CIDEB, LTB4R2 (A156V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2488406	NM_019839.5(LTB4R2):c.470C>T (p.Ala157Val)	CIDEB, LTB4R2 (A157V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3121394	NM_019839.5(LTB4R2):c.542A>T (p.His181Leu)	CIDEB, LTB4R2 (H181L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2245332	NM_019839.5(LTB4R2):c.553G>C (p.Glu185Gln)	CIDEB, LTB4R2 (E185Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2213806	NM_019839.5(LTB4R2):c.557C>G (p.Thr186Ser)	CIDEB, LTB4R2 (T186S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 783684	NM_019839.5(LTB4R2):c.559_560del (p.Leu187fs)	CIDEB, LTB4R2 (L187fs)	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 768643	NM_019839.5(LTB4R2):c.564C>T (p.Thr188=)	CIDEB, LTB4R2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2609929	NM_019839.5(LTB4R2):c.566C>T (p.Ala189Val)	CIDEB, LTB4R2 (A189V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3292193	NM_019839.5(LTB4R2):c.646G>C (p.Gly216Arg)	CIDEB, LOC130055421 +1 more (G216R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2468141	NM_019839.5(LTB4R2):c.650G>A (p.Arg217Gln)	CIDEB, LOC130055421 +1 more (R217Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2547126	NM_019839.5(LTB4R2):c.707T>C (p.Leu236Pro)	CIDEB, LOC130055421 +1 more (L236P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2496122	NM_019839.5(LTB4R2):c.733C>T (p.Leu245Phe)	CIDEB, LOC130055421 +1 more (L245F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3121395	NM_019839.5(LTB4R2):c.737T>C (p.Leu246Pro)	CIDEB, LOC130055421 +1 more (L246P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2246438	NM_019839.5(LTB4R2):c.737T>A (p.Leu246Gln)	CIDEB, LOC130055421 +1 more (L246Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2316580	NM_019839.5(LTB4R2):c.760C>T (p.Pro254Ser)	CIDEB, LTB4R2 (P254S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2685479	GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	RIPK3, RNF31 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 980003	GRCh37/hg19 14q11.2-12(chr14:24163771-24818728)x3	ADCY4, CARMIL3 +31 more	Copy number gain	not provided	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442398	GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	ADCY4, CARMIL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253943	GRCh37/hg19 14q12(chr14:24768556-24781268)x3	CIDEB, LTB4R +3 more	Copy number gain	See cases	GUncertain significance
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 82