CASP5[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	AASDHPPT, ACAT1 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	ANGPTL5, ARHGAP42 +149 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 59773	GRCh38/hg38 11q22.3(chr11:104142626-107019997)x3	AASDHPPT, CARD16 +40 more	Copy number gain	See cases	GPathogenic
Select item 151264	GRCh38/hg38 11q22.3(chr11:104192271-105418437)x3	CARD16, CARD17 +16 more	Copy number gain	See cases	GLikely benign
Select item 58921	GRCh38/hg38 11q22.3(chr11:104510196-105323725)x1	CARD16, CARD17 +14 more	Copy number loss	See cases	GPathogenic
Select item 3028910	NM_004347.5(CASP5):c.1261C>T (p.Arg421Ter)	CASP5 (R434* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2209080	NM_004347.5(CASP5):c.1144G>C (p.Glu382Gln)	CASP5 (E240Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2224599	NM_004347.5(CASP5):c.1118G>A (p.Arg373His)	CASP5 (R386H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476555	NM_004347.5(CASP5):c.1082G>C (p.Cys361Ser)	CASP5 (C303S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259163	NM_004347.5(CASP5):c.1076C>T (p.Ala359Val)	CASP5 (A301V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276773	NM_004347.5(CASP5):c.938A>G (p.Gln313Arg)	CASP5 (Q171R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559226	NM_004347.5(CASP5):c.914A>G (p.Asp305Gly)	CASP5, LOC121392937 (D163G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210038	NM_004347.5(CASP5):c.823G>A (p.Gly275Arg)	LOC121392937, CASP5 (G133R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383900	NM_004347.5(CASP5):c.667C>T (p.Leu223Phe)	CASP5 (L165F +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298213	NM_004347.5(CASP5):c.611A>T (p.Asp204Val)	CASP5 (D146V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357531	NM_004347.5(CASP5):c.599A>T (p.Asn200Ile)	CASP5 (N58I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389952	NM_004347.5(CASP5):c.571C>T (p.Arg191Cys)	CASP5 (R133C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568892	NM_004347.5(CASP5):c.497G>T (p.Cys166Phe)	CASP5 (C166F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369133	NM_004347.5(CASP5):c.484A>G (p.Ile162Val)	CASP5 (I104V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308892	NM_004347.5(CASP5):c.422C>T (p.Thr141Ile)	CASP5 (T154I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2271884	NM_004347.5(CASP5):c.293A>G (p.Glu98Gly)	CASP5 (E111G +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2619450	NM_004347.5(CASP5):c.254A>G (p.Asn85Ser)	CASP5 (N27S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2267900	NM_004347.5(CASP5):c.248T>C (p.Val83Ala)	CASP5 (V96A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2320312	NM_004347.5(CASP5):c.32G>A (p.Arg11His)	CASP5 (R24H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1808942	GRCh37/hg19 11q22.3(chr11:104411149-105195575)x3	CARD16, CARD17 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341011	GRCh37/hg19 11q22.3(chr11:104879064-104960862)x1	CARD16, CASP1 +1 more	Copy number loss	not provided	GLikely benign
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979323	GRCh37/hg19 11q22.3(chr11:104842204-104893155)x1	CASP5	Copy number loss	not provided	GLikely benign
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815467	GRCh37/hg19 11q22.3(chr11:104805250-105062846)x1	CARD17, CARD18 +4 more	Copy number loss	not provided	GLikely benign
Select item 815465	GRCh37/hg19 11q22.3(chr11:104032889-105292804)x3	CARD16, CARD17 +6 more	Copy number gain	not provided	GLikely benign
Select item 815464	GRCh37/hg19 11q22.3(chr11:103983847-106914369)x3	AASDHPPT, CARD16 +11 more	Copy number gain	not provided	GUncertain significance
Select item 815463	GRCh37/hg19 11q22.3(chr11:103980525-106914369)x1	AASDHPPT, CARD16 +11 more	Copy number loss	not provided	GUncertain significance
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 686316	GRCh37/hg19 11q22.3(chr11:104032613-105293148)x3	CARD16, CARD17 +6 more	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563877	GRCh37/hg19 11q22.2-22.3(chr11:102578709-107230611)x1	AASDHPPT, CARD16 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 442680	GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1	ANGPTL5, ARHGAP42 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +96 more	Copy number loss	See cases	GPathogenic
Select item 394835	GRCh37/hg19 11q22.3(chr11:104874006-104916026)x1	CARD16, CASP1 +1 more	Copy number loss	See cases	GLikely benign

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Items: 50