ClinVar for Gene (Select 145482) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311317	NM_001146154.2(PTGR2):c.376C>G (p.Leu126Val)	PTGR2 (L126V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3311316	NM_001146154.2(PTGR2):c.608A>T (p.Asp203Val)	PTGR2 (D69V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311315	NM_001146154.2(PTGR2):c.5T>C (p.Ile2Thr)	PTGR2 (I2T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3244015	NC_000014.8:g.(?_74111743)_(74551097_?)del	ALDH6A1, BBOF1 +8 more	Deletion	Primary ciliary dyskinesia 16	GPathogenic
Select item 3220808	NM_001146154.2(PTGR2):c.815C>T (p.Ala272Val)	PTGR2 (A202V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220807	NM_001146154.2(PTGR2):c.710G>C (p.Ser237Thr)	PTGR2 (S237T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220806	NM_001146154.2(PTGR2):c.685T>G (p.Phe229Val)	PTGR2 (F95V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220805	NM_001146154.2(PTGR2):c.656A>T (p.Glu219Val)	PTGR2 (E162V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220804	NM_001146154.2(PTGR2):c.621T>G (p.Asn207Lys)	PTGR2 (N150K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220803	NM_001146154.2(PTGR2):c.304C>A (p.Pro102Thr)	PTGR2 (P102T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3220802	NM_001146154.2(PTGR2):c.280G>A (p.Asp94Asn)	PTGR2 (D94N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3220801	NM_001146154.2(PTGR2):c.263C>G (p.Thr88Arg)	PTGR2 (T88R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3220800	NM_001146154.2(PTGR2):c.158G>A (p.Arg53His)	PTGR2 (R53H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3220799	NM_001146154.2(PTGR2):c.134A>G (p.Tyr45Cys)	PTGR2 (Y45C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2599992	NM_001146154.2(PTGR2):c.999G>A (p.Met333Ile)	PTGR2 (M333I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540379	NM_001146154.2(PTGR2):c.304C>T (p.Pro102Ser)	PTGR2 (P102S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526829	NM_001146154.2(PTGR2):c.910A>C (p.Ser304Arg)	PTGR2 (S170R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524500	NM_001146154.2(PTGR2):c.131T>G (p.Leu44Arg)	PTGR2 (L44R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2492079	NM_001146154.2(PTGR2):c.734A>C (p.Asn245Thr)	PTGR2 (N188T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480390	NM_001146154.2(PTGR2):c.230G>A (p.Gly77Glu)	PTGR2 (G77E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467411	NM_001146154.2(PTGR2):c.19G>A (p.Val7Ile)	PTGR2 (V7I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411048	NM_001146154.2(PTGR2):c.32G>A (p.Arg11Gln)	PTGR2 (R11Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291809	NM_001146154.2(PTGR2):c.494G>T (p.Gly165Val)	PTGR2 (G165V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291808	NM_001146154.2(PTGR2):c.416C>G (p.Thr139Ser)	PTGR2 (T5S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2278875	NM_001146154.2(PTGR2):c.69C>A (p.Phe23Leu)	PTGR2 (F23L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2278874	NM_001146154.2(PTGR2):c.68T>A (p.Phe23Tyr)	PTGR2 (F23Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273532	NM_001146154.2(PTGR2):c.448A>G (p.Ile150Val)	PTGR2 (I150V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2257608	NM_001146154.2(PTGR2):c.602G>C (p.Gly201Ala)	PTGR2 (G201A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 785467	NM_001146154.2(PTGR2):c.980-6_980-5del	PTGR2	Deletion (intron variant)	not provided	GBenign
Select item 656294	NC_000014.8:g.(?_74111723)_(74727642_?)dup	COQ6, DNAL1 +58 more	Duplication	Primary ciliary dyskinesia 16	GUncertain significance
Select item 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 564126	GRCh37/hg19 14q24.3(chr14:74219440-74883692)x3	ABCD4, ALDH6A1 +11 more	Copy number gain	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 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 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
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	ACOT6, ACYP1 +59 more	Deletion	Multiple skeletal anomalies +3 more	GLikely pathogenic
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 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
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 146052	GRCh38/hg38 14q24.3(chr14:73758142-73986307)x3	COQ6, ENTPD5 +23 more	Copy number gain	See cases	GUncertain significance
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 46