ClinVar for Gene (Select 284338) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2617509	NM_199285.3(PRR19):c.484C>T (p.Pro162Ser)	PRR19 (P162S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605719	NM_199285.3(PRR19):c.904G>T (p.Gly302Trp)	PRR19 (G302W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539524	NM_199285.3(PRR19):c.544C>G (p.His182Asp)	PRR19 (H182D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523186	NM_199285.3(PRR19):c.724C>G (p.Pro242Ala)	PRR19 (P242A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515983	NM_199285.3(PRR19):c.62G>A (p.Arg21His)	PRR19 (R21H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494984	NM_199285.3(PRR19):c.746C>A (p.Thr249Asn)	PRR19 (T249N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477605	NM_199285.3(PRR19):c.850G>C (p.Asp284His)	PRR19 (D284H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	MEGF8-related Carpenter syndrome +3 more	GUncertain significance
Select item 2404527	NM_199285.3(PRR19):c.933G>T (p.Gln311His)	PRR19 (Q311H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393432	NM_199285.3(PRR19):c.515A>G (p.Asp172Gly)	PRR19 (D172G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376522	NM_199285.3(PRR19):c.112C>T (p.Arg38Trp)	PRR19 (R38W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366305	NM_002573.4(PAFAH1B3):c.55G>A (p.Gly19Ser)	PRR19, PAFAH1B3 (G19S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365773	NM_199285.3(PRR19):c.356G>A (p.Arg119Gln)	PRR19 (R119Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2340149	NM_199285.3(PRR19):c.1064T>A (p.Leu355Gln)	PRR19 (L355Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288834	NM_199285.3(PRR19):c.464T>C (p.Leu155Pro)	PRR19 (L155P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270171	NM_199285.3(PRR19):c.495C>A (p.Asn165Lys)	PRR19 (N165K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256884	NM_199285.3(PRR19):c.65G>C (p.Arg22Pro)	PRR19 (R22P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236957	NM_199285.3(PRR19):c.758G>A (p.Gly253Glu)	PRR19 (G253E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 689144	GRCh37/hg19 19q13.2(chr19:42803967-42812285)x1	PAFAH1B3, PRR19	Copy number loss	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
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 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 26