PTGDR[gene] - ClinVar

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Items: 43

	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 5405	NM_000953.3(PTGDR):c.[-197=;-441T>C-549=]	PTGDR	Variation	Asthma-related traits, susceptibility to, 1	Gprotective
Select item 3220685	NM_000953.3(PTGDR):c.17A>T (p.Tyr6Phe)	PTGDR (Y6F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790685	NM_000953.3(PTGDR):c.19C>T (p.Arg7Cys)	PTGDR (R7C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2334186	NM_000953.3(PTGDR):c.32C>T (p.Thr11Ile)	PTGDR (T11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311273	NM_000953.3(PTGDR):c.107T>C (p.Leu36Pro)	PTGDR (L36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550759	NM_000953.3(PTGDR):c.154C>T (p.Arg52Cys)	PTGDR (R52C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381301	NM_000953.3(PTGDR):c.187A>G (p.Met63Val)	PTGDR (M63V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3220686	NM_000953.3(PTGDR):c.283G>A (p.Val95Met)	PTGDR (V95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226420	NM_000953.3(PTGDR):c.290C>T (p.Ala97Val)	PTGDR (A97V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2484430	NM_000953.3(PTGDR):c.484G>A (p.Ala162Thr)	PTGDR (A162T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511668	NM_000953.3(PTGDR):c.514G>A (p.Gly172Arg)	PTGDR (G172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220687	NM_000953.3(PTGDR):c.571G>A (p.Glu191Lys)	PTGDR (E191K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220688	NM_000953.3(PTGDR):c.596A>T (p.Tyr199Phe)	PTGDR (Y199F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311276	NM_000953.3(PTGDR):c.610T>C (p.Ser204Pro)	PTGDR (S204P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542046	NM_000953.3(PTGDR):c.710G>A (p.Arg237His)	PTGDR (R237H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224608	NM_000953.3(PTGDR):c.740G>A (p.Arg247His)	PTGDR (R247H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361295	NM_000953.3(PTGDR):c.743C>T (p.Ala248Val)	PTGDR (A248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250544	NM_000953.3(PTGDR):c.758C>G (p.Ala253Gly)	PTGDR (A253G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2525349	NM_000953.3(PTGDR):c.796C>A (p.Leu266Met)	PTGDR (L266M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311274	NM_000953.3(PTGDR):c.803C>A (p.Ala268Glu)	PTGDR (A268E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220689	NM_000953.3(PTGDR):c.808A>G (p.Met270Val)	PTGDR (M270V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067789	NM_000953.3(PTGDR):c.828G>A (p.Met276Ile)	PTGDR (M276I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2271459	NM_000953.3(PTGDR):c.873G>T (p.Lys291Asn)	PTGDR (K291N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311275	NM_000953.3(PTGDR):c.904G>A (p.Glu302Lys)	PTGDR (E302K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1050460	NM_000953.3(PTGDR):c.928C>T (p.Arg310Ter)	PTGDR (R310*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2611122	NM_000953.3(PTGDR):c.988G>C (p.Val330Leu)	PTGDR (V330L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644239	NM_000953.3(PTGDR):c.995G>A (p.Arg332Gln)	PTGDR (R332Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2205769	NM_000953.3(PTGDR):c.1055C>T (p.Ser352Phe)	PTGDR (S352F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536771	NM_000953.3(PTGDR):c.1063A>G (p.Met355Val)	PTGDR (M355V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2608294	NM_000953.3(PTGDR):c.1064T>C (p.Met355Thr)	PTGDR (M355T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220684	NM_000953.3(PTGDR):c.1072A>T (p.Ser358Cys)	PTGDR (S358C)	Single nucleotide variant (missense variant +1 more)	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 815656	GRCh37/hg19 14q22.1(chr14:52630033-52741520)x1	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: 43