PTGER2[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 146623	GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1	BMP4, CDKN3 +147 more	Copy number loss	See cases	GPathogenic
Select item 13360	NC_000014.9:g.52300623G>A	PTGER2	Single nucleotide variant	Asthma, aspirin-induced, susceptibility to	Grisk factor
Select item 2263924	NM_000956.4(PTGER2):c.5G>A (p.Gly2Asp)	PTGER2 (G2D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311287	NM_000956.4(PTGER2):c.65G>A (p.Gly22Asp)	PTGER2 (G22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340036	NM_000956.4(PTGER2):c.82A>G (p.Ser28Gly)	PTGER2 (S28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220716	NM_000956.4(PTGER2):c.125C>T (p.Ala42Val)	PTGER2 (A42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220717	NM_000956.4(PTGER2):c.205G>A (p.Val69Met)	PTGER2 (V69M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257012	NM_000956.4(PTGER2):c.232G>C (p.Asp78His)	PTGER2 (D78H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710814	NM_000956.4(PTGER2):c.247T>G (p.Cys83Gly)	PTGER2 (C83G)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2301421	NM_000956.4(PTGER2):c.260C>T (p.Pro87Leu)	PTGER2 (P87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222527	NM_000956.4(PTGER2):c.311C>T (p.Pro104Leu)	PTGER2 (P104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311284	NM_000956.4(PTGER2):c.313G>A (p.Glu105Lys)	PTGER2 (E105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620475	NM_000956.4(PTGER2):c.347T>G (p.Met116Arg)	PTGER2 (M116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311286	NM_000956.4(PTGER2):c.370A>G (p.Met124Val)	LOC130055639, PTGER2 (M124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277829	NM_000956.4(PTGER2):c.377T>C (p.Met126Thr)	LOC130055639, PTGER2 (M126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220718	NM_000956.4(PTGER2):c.439C>T (p.Arg147Cys)	LOC130055639, PTGER2 (R147C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220719	NM_000956.4(PTGER2):c.482A>T (p.Tyr161Phe)	LOC130055639, PTGER2 (Y161F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218815	NM_000956.4(PTGER2):c.540G>C (p.Gln180His)	LOC130055640, PTGER2 (Q180H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601262	NM_000956.4(PTGER2):c.647T>G (p.Phe216Cys)	LOC130055640, PTGER2 (F216C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458157	NM_000956.4(PTGER2):c.724C>T (p.Arg242Trp)	PTGER2 (R242W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478088	NM_000956.4(PTGER2):c.728G>T (p.Gly243Val)	PTGER2 (G243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220720	NM_000956.4(PTGER2):c.747G>T (p.Arg249Ser)	PTGER2 (R249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311283	NM_000956.4(PTGER2):c.791T>C (p.Ile264Thr)	PTGER2 (I264T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719357	NM_000956.4(PTGER2):c.854A>G (p.Tyr285Cys)	PTGER2 (Y285C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3220721	NM_000956.4(PTGER2):c.856A>G (p.Met286Val)	PTGER2 (M286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311285	NM_000956.4(PTGER2):c.935C>T (p.Pro312Leu)	PTGER2 (P312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 980489	GRCh37/hg19 14q22.1(chr14:52566666-52846237)x1	PTGER2, PTGDR	Copy number loss	not provided	GUncertain significance
Select item 815657	GRCh37/hg19 14q22.1(chr14:52727933-52809716)x1	PTGER2, PTGDR	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	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

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Items: 36