ClinVar for Gene (Select 5657) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3219995	NM_002777.4(PRTN3):c.759G>C (p.Lys253Asn)	PRTN3 (K253N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219994	NM_002777.4(PRTN3):c.712C>T (p.Leu238Phe)	PRTN3 (L238F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219993	NM_002777.4(PRTN3):c.703C>T (p.Arg235Trp)	PRTN3 (R235W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219992	NM_002777.4(PRTN3):c.497C>A (p.Pro166Gln)	PRTN3 (P166Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219991	NM_002777.4(PRTN3):c.373A>G (p.Ser125Gly)	PRTN3 (S125G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219990	NM_002777.4(PRTN3):c.308C>T (p.Ala103Val)	PRTN3 (A103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219989	NM_002777.4(PRTN3):c.172G>C (p.Gly58Arg)	PRTN3 (G58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 3024761	NM_002777.4(PRTN3):c.746G>A (p.Arg249His)	PRTN3 (R249H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2544013	NM_002777.4(PRTN3):c.679C>G (p.Arg227Gly)	PRTN3 (R227G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520464	NM_002777.4(PRTN3):c.521A>G (p.Asn174Ser)	PRTN3 (N174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	NDUFS7, ONECUT3 +61 more	Duplication	Cyclical neutropenia +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2402472	NM_002777.4(PRTN3):c.392G>A (p.Ser131Asn)	PRTN3 (S131N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257710	NM_002777.4(PRTN3):c.191G>C (p.Ser64Thr)	PRTN3 (S64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239808	NM_002777.4(PRTN3):c.479T>G (p.Val160Gly)	PRTN3 (V160G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229486	NM_002777.4(PRTN3):c.469T>G (p.Trp157Gly)	PRTN3 (W157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226808	NM_002777.4(PRTN3):c.491A>C (p.Asp164Ala)	PRTN3 (D164A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1703549	GRCh37/hg19 19p13.3(chr19:260911-1319319)	ABCA7, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 832136	NC_000019.9:g.(?_589926)_(1401495_?)dup	AZU1, CFD +35 more	Duplication	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ABCA7, ABHD17A +106 more	Copy number gain	not provided	GPathogenic
Select item 786842	NM_002777.4(PRTN3):c.198G>T (p.Val66=)	PRTN3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 725047	NM_002777.4(PRTN3):c.15C>T (p.Pro5=)	PRTN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717792	NM_002777.4(PRTN3):c.210G>T (p.Ala70=)	PRTN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715178	NM_002777.4(PRTN3):c.11G>A (p.Arg4Gln)	PRTN3 (R4Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 564597	GRCh37/hg19 19p13.3(chr19:715724-1438636)x3	ABCA7, ARHGAP45 +31 more	Copy number gain	not provided	GUncertain significance
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	GNA11, GNA15 +100 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 444854	GRCh37/hg19 19p13.3(chr19:266117-1094614)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442971	GRCh37/hg19 19p13.3(chr19:415092-715725)x3	ABCA7, ARHGAP45 +29 more	Copy number gain	See cases	GLikely benign
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 252977	GRCh37/hg19 19p13.3(chr19:260912-1163934)x3	ABCA7, ARHGAP45 +36 more	Copy number gain	See cases	GPathogenic
Select item 219015	GRCh37/hg19 19p13.3(chr19:823554-1206859)x3	POLR2E, PRTN3 +16 more	Copy number gain	See cases	GUncertain significance
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	ABCA7, ARHGAP45 +136 more	Copy number loss	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 145089	GRCh38/hg38 19p13.3(chr19:839492-995558)x1	ARID3A, CFD +27 more	Copy number loss	See cases	GPathogenic
Select item 60231	GRCh38/hg38 19p13.3(chr19:677680-899104)x3	AZU1, CFD +25 more	Copy number gain	See cases	GUncertain significance
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 53