ClinVar for Gene (Select 5739) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2609641	NM_000960.4(PTGIR):c.683C>T (p.Pro228Leu)	PTGIR (P228L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601141	NM_000960.4(PTGIR):c.128C>T (p.Pro43Leu)	PTGIR (P43L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523819	NM_000960.4(PTGIR):c.917G>C (p.Trp306Ser)	PTGIR (W306S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522452	NM_000960.4(PTGIR):c.680G>A (p.Arg227Gln)	PTGIR (R227Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510115	NM_000960.4(PTGIR):c.125G>A (p.Arg42Gln)	PTGIR (R42Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509465	NM_000960.4(PTGIR):c.401G>A (p.Arg134His)	PTGIR (R134H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	CCDC9, DACT3 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 2489233	NM_000960.4(PTGIR):c.821A>G (p.Asp274Gly)	PTGIR (D274G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488243	NM_000960.4(PTGIR):c.332T>C (p.Phe111Ser)	PTGIR (F111S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394385	NM_000960.4(PTGIR):c.1072G>A (p.Glu358Lys)	PTGIR (E358K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387691	NM_000960.4(PTGIR):c.887G>A (p.Arg296His)	PTGIR (R296H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383377	NM_000960.4(PTGIR):c.949G>A (p.Gly317Arg)	PTGIR (G317R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353430	NM_000960.4(PTGIR):c.320T>C (p.Met107Thr)	PTGIR (M107T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2341345	NM_000960.4(PTGIR):c.610G>A (p.Gly204Ser)	PTGIR (G204S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316398	NM_000960.4(PTGIR):c.746C>G (p.Ala249Gly)	PTGIR (A249G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294256	NM_000960.4(PTGIR):c.1039G>A (p.Val347Met)	PTGIR (V347M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286501	NM_000960.4(PTGIR):c.206C>G (p.Pro69Arg)	PTGIR (P69R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257472	NM_000960.4(PTGIR):c.118G>A (p.Ala40Thr)	PTGIR (A40T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248599	NM_000960.4(PTGIR):c.292G>C (p.Ala98Pro)	PTGIR (A98P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235407	NM_000960.4(PTGIR):c.403T>G (p.Cys135Gly)	PTGIR (C135G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216890	NM_000960.4(PTGIR):c.147C>A (p.Phe49Leu)	PTGIR (F49L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526668	GRCh37/hg19 19q13.32(chr19:46918881-47782258)	AP2S1, ARHGAP35 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1411336	NC_000019.9:g.(?_47104692)_(47260195_?)dup	STRN4, CALM3 +5 more	Duplication	Long QT syndrome 1	GUncertain significance
Select item 830903	NC_000019.10:g.(?_46605817)_(46756948_?)dup	CALM3, DACT3 +5 more	Duplication	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	GPR4, LOC400706 +75 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 781492	NM_000960.4(PTGIR):c.956C>G (p.Ser319Trp)	PTGIR (S319W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781491	NM_000960.4(PTGIR):c.1119G>A (p.Thr373=)	PTGIR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 742244	NM_000960.4(PTGIR):c.1038C>T (p.Cys346=)	PTGIR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	SELENOW, SLC1A5 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	ERCC2, PPP5C +121 more	Copy number loss	See cases	GPathogenic
Select item 161062	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	AP2S1, ARHGAP35 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 33175	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 42