CASP4[gene] - ClinVar

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Items: 52

	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 3137598	NM_001225.4(CASP4):c.1121T>C (p.Phe374Ser)	CASP4 (F374S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781813	NM_001225.4(CASP4):c.1112dup (p.Tyr372fs)	CASP4 (Y316fs +1 more)	Duplication (frameshift variant)	not provided	GBenign
Select item 2222422	NM_001225.4(CASP4):c.982A>C (p.Thr328Pro)	CASP4 (T328P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137605	NM_001225.4(CASP4):c.920C>T (p.Thr307Met)	CASP4 (T251M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137604	NM_001225.4(CASP4):c.886G>A (p.Val296Met)	CASP4 (V296M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787387	NM_001225.4(CASP4):c.852G>T (p.Glu284Asp)	CASP4 (E228D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2336621	NM_001225.4(CASP4):c.847T>C (p.Ser283Pro)	CASP4 (S227P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383541	NM_001225.4(CASP4):c.676C>A (p.Pro226Thr)	CASP4 (P170T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137602	NM_001225.4(CASP4):c.547G>T (p.Asp183Tyr)	CASP4 (D127Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623142	NM_001225.4(CASP4):c.475A>C (p.Ile159Leu)	CASP4 (I159L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360536	NM_001225.4(CASP4):c.407G>A (p.Arg136His)	CASP4 (R136H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137601	NM_001225.4(CASP4):c.294G>C (p.Glu98Asp)	CASP4 (E42D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403540	NM_001225.4(CASP4):c.293A>G (p.Glu98Gly)	CASP4 (E42G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137600	NM_001225.4(CASP4):c.266A>T (p.His89Leu)	CASP4 (H89L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206854	NM_001225.4(CASP4):c.254A>G (p.Asn85Ser)	CASP4 (N29S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2227147	NM_001225.4(CASP4):c.224C>G (p.Thr75Ser)	CASP4 (T75S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547417	NM_001225.4(CASP4):c.212T>C (p.Met71Thr)	CASP4 (M15T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366093	NM_001225.4(CASP4):c.197G>A (p.Arg66His)	CASP4 (R10H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787097	NM_001225.4(CASP4):c.139G>A (p.Asp47Asn)	CASP4 (D47N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2493199	NM_001225.4(CASP4):c.129G>T (p.Lys43Asn)	CASP4 (K43N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538516	NM_001225.4(CASP4):c.128A>G (p.Lys43Arg)	CASP4 (K43R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486720	NM_001225.4(CASP4):c.125A>C (p.Lys42Thr)	CASP4 (K42T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335102	NM_001225.4(CASP4):c.70G>A (p.Gly24Ser)	CASP4 (G24S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
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 815466	GRCh37/hg19 11q22.3(chr11:104714600-104828745)x1	CASP12, CASP4	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)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +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

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Items: 52