PTGIS[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	LOC125387319, LOC125387320 +1024 more	Copy number gain	See cases	GPathogenic
Select item 150781	GRCh38/hg38 20q13.13(chr20:48756586-49532355)x3	ARFGEF2, CSE1L +44 more	Copy number gain	See cases	GUncertain significance
Select item 2569035	NM_000961.4(PTGIS):c.1489C>T (p.Arg497Cys)	PTGIS (R497C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456015	NM_000961.4(PTGIS):c.1405G>A (p.Ala469Thr)	PTGIS (A469T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477787	NM_000961.4(PTGIS):c.1385T>G (p.Leu462Trp)	PTGIS (L462W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463562	NM_000961.4(PTGIS):c.1382A>C (p.His461Pro)	PTGIS (H461P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 786681	NM_000961.4(PTGIS):c.1378G>A (p.Val460Met)	PTGIS (V460M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2467801	NM_000961.4(PTGIS):c.1366T>C (p.Phe456Leu)	PTGIS (F456L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 7864	NM_000961.4(PTGIS):c.1358+2T>C	PTGIS	Single nucleotide variant (splice donor variant)	Essential hypertension	GPathogenic
Select item 3060885	NM_000961.4(PTGIS):c.1117C>A (p.Arg373=)	PTGIS	Single nucleotide variant (synonymous variant)	PTGIS-related condition	GBenign
Select item 2386826	NM_000961.4(PTGIS):c.1073C>A (p.Thr358Asn)	PTGIS (T358N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521618	NM_000961.4(PTGIS):c.1030G>C (p.Val344Leu)	PTGIS (V344L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378975	NM_000961.4(PTGIS):c.1030G>A (p.Val344Met)	PTGIS (V344M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589794	NM_000961.4(PTGIS):c.928C>T (p.Arg310Cys)	PTGIS (R310C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284827	NM_000961.4(PTGIS):c.914C>T (p.Ala305Val)	PTGIS (A305V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372961	NM_000961.4(PTGIS):c.862A>G (p.Met288Val)	PTGIS (M288V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603611	NM_000961.4(PTGIS):c.860A>G (p.Asn287Ser)	PTGIS (N287S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208402	NM_000961.4(PTGIS):c.824G>A (p.Arg275Gln)	PTGIS (R275Q)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 2248749	NM_000961.4(PTGIS):c.823C>T (p.Arg275Trp)	PTGIS (R275W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274467	NM_000961.4(PTGIS):c.772A>T (p.Ser258Cys)	PTGIS (S258C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056980	NM_000961.4(PTGIS):c.768G>A (p.Leu256=)	PTGIS	Single nucleotide variant (synonymous variant)	PTGIS-related condition	GBenign
Select item 2301265	NM_000961.4(PTGIS):c.765G>T (p.Trp255Cys)	PTGIS (W255C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051904	NM_000961.4(PTGIS):c.754C>T (p.Arg252Trp)	PTGIS (R252W)	Single nucleotide variant (missense variant)	PTGIS-related condition	GLikely benign
Select item 2455463	NM_000961.4(PTGIS):c.725C>T (p.Ser242Phe)	PTGIS (S242F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1260556	NM_000961.4(PTGIS):c.723A>G (p.Leu241=)	PTGIS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2513440	NM_000961.4(PTGIS):c.719T>A (p.Leu240Gln)	PTGIS (L240Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281797	NM_000961.4(PTGIS):c.707G>T (p.Arg236Leu)	PTGIS (R236L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781903	NM_000961.4(PTGIS):c.706C>T (p.Arg236Cys)	PTGIS (R236C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2387887	NM_000961.4(PTGIS):c.635G>A (p.Arg212Gln)	PTGIS (R212Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512257	NM_000961.4(PTGIS):c.623G>A (p.Arg208His)	PTGIS (R208H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042079	NM_000961.4(PTGIS):c.591C>T (p.Arg197=)	PTGIS	Single nucleotide variant (synonymous variant)	PTGIS-related condition	GBenign
Select item 2548542	NM_000961.4(PTGIS):c.581C>T (p.Ala194Val)	PTGIS (A194V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513498	NM_000961.4(PTGIS):c.563G>A (p.Arg188His)	PTGIS (R188H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605875	NM_000961.4(PTGIS):c.560C>T (p.Pro187Leu)	PTGIS (P187L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607118	NM_000961.4(PTGIS):c.478C>T (p.His160Tyr)	PTGIS (H160Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556887	NM_000961.4(PTGIS):c.455C>T (p.Ala152Val)	PTGIS (A152V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480546	NM_000961.4(PTGIS):c.439G>C (p.Val147Leu)	PTGIS (V147L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383028	NM_000961.4(PTGIS):c.380C>T (p.Thr127Ile)	PTGIS (T127I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284274	NM_000961.4(PTGIS):c.344A>G (p.Tyr115Cys)	PTGIS (Y115C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470778	NM_000961.4(PTGIS):c.313G>A (p.Glu105Lys)	PTGIS (E105K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1033155	NM_000961.4(PTGIS):c.283G>A (p.Asp95Asn)	PTGIS (D95N)	Single nucleotide variant (missense variant)	Essential hypertension	GUncertain significance
Select item 2254776	NM_000961.4(PTGIS):c.268C>A (p.Pro90Thr)	PTGIS (P90T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535269	NM_000961.4(PTGIS):c.226G>A (p.Val76Ile)	PTGIS (V76I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2463420	NM_000961.4(PTGIS):c.184G>A (p.Gly62Ser)	PTGIS (G62S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519234	NM_000961.4(PTGIS):c.128C>A (p.Ala43Asp)	PTGIS (A43D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1181517	NM_000961.3(PTGIS):c.-19_-2dup18	PTGIS	Microsatellite	PTGIS-related condition +1 more	GBenign
Select item 1181854	NC_000020.11:g.49568157_49568158insGGCTGACGGGGCTGGCGG	PTGIS	Insertion	not provided	GBenign
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 688025	GRCh37/hg19 20q13.13(chr20:48023123-48581111)x1	B4GALT5, KCNB1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 560064	Single allele	ADNP, ARFGEF2 +27 more	Duplication	not provided	GUncertain significance
Select item 443773	GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	ADNP, ARFGEF2 +28 more	Copy number loss	See cases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442502	GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1	ADNP, ATP9A +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 187826	GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1	KCNG1, SPATA2 +22 more	Copy number loss	See cases	GLikely pathogenic

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Items: 56