LTB4R[gene] - ClinVar

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Items: 45

	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	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 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 2469832	NM_019839.5(LTB4R2):c.847G>T (p.Val283Phe)	LTB4R, LTB4R2 (V283F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2389362	NM_019839.5(LTB4R2):c.916C>T (p.Arg306Trp)	LTB4R, LTB4R2 (R306W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2305703	NM_019839.5(LTB4R2):c.989C>A (p.Thr330Asn)	LTB4R, LTB4R2 (T330N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3121396	NM_019839.5(LTB4R2):c.992C>T (p.Pro331Leu)	LTB4R, LTB4R2 (P331L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2538805	NM_019839.5(LTB4R2):c.1057G>C (p.Gly353Arg)	LTB4R, LTB4R2 (G353R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3121379	NM_001143919.3(LTB4R):c.17C>T (p.Ser6Phe)	LTB4R (S6F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556955	NM_001143919.3(LTB4R):c.134A>C (p.Lys45Thr)	LTB4R (K45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773279	NM_001143919.3(LTB4R):c.235G>T (p.Ala79Ser)	LTB4R (A79S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3121380	NM_001143919.3(LTB4R):c.238C>G (p.Gln80Glu)	LTB4R (Q80E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342427	NM_001143919.3(LTB4R):c.334A>G (p.Ser112Gly)	LTB4R (S112G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723687	NM_001143919.3(LTB4R):c.354G>A (p.Ala118=)	LTB4R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3121381	NM_001143919.3(LTB4R):c.397A>C (p.Met133Leu)	LTB4R (M133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121382	NM_001143919.3(LTB4R):c.611T>C (p.Ile204Thr)	LTB4R (I204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121383	NM_001143919.3(LTB4R):c.641G>A (p.Arg214His)	LTB4R (R214H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331220	NM_001143919.3(LTB4R):c.676A>G (p.Ile226Val)	LTB4R (I226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121384	NM_001143919.3(LTB4R):c.679A>G (p.Ile227Val)	LTB4R (I227V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121385	NM_001143919.3(LTB4R):c.688T>C (p.Phe230Leu)	LTB4R (F230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121386	NM_001143919.3(LTB4R):c.835A>C (p.Ser279Arg)	LTB4R (S279R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212528	NM_001143919.3(LTB4R):c.892G>T (p.Val298Leu)	LTB4R (V298L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121387	NM_001143919.3(LTB4R):c.973G>C (p.Ala325Pro)	LTB4R (A325P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258662	NM_001143919.3(LTB4R):c.989C>A (p.Ala330Asp)	LTB4R (A330D)	Single nucleotide variant (missense variant)	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	ACIN1, ADCY4 +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)	ABCD4, ABHD12B +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	ERG28, OR11G2 +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: 45