CASP1[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +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 2490539	NM_001257118.3(CASP1):c.1210C>T (p.His404Tyr)	CASP1 (H263Y +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3263413	NM_001257118.3(CASP1):c.1157T>G (p.Met386Arg)	CASP1 (M70R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137559	NM_001257118.3(CASP1):c.1151C>T (p.Ala384Val)	CASP1 (A384V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393624	NM_001257118.3(CASP1):c.1088C>T (p.Ser363Phe)	CASP1 (S222F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328193	NM_001257118.3(CASP1):c.1088C>G (p.Ser363Cys)	CASP1 (S222C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341150	NM_001257118.3(CASP1):c.1069A>C (p.Met357Leu)	CASP1 (M216L +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525039	NM_001257118.3(CASP1):c.1065A>T (p.Glu355Asp)	CASP1 (E214D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263414	NM_001257118.3(CASP1):c.1036G>A (p.Gly346Ser)	CASP1 (G253S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137558	NM_001257118.3(CASP1):c.1027C>A (p.Pro343Thr)	CASP1 (P27T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728509	NM_001257118.3(CASP1):c.984C>T (p.Ile328=)	CASP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2255065	NM_001257118.3(CASP1):c.982A>T (p.Ile328Phe)	CASP1 (I307F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272475	NM_001257118.3(CASP1):c.841A>G (p.Ile281Val)	CASP1 (I260V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487825	NM_001257118.3(CASP1):c.835G>T (p.Val279Leu)	CASP1 (V258L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 752080	NM_001257118.3(CASP1):c.777T>C (p.Asn259=)	CASP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3041613	NM_001257118.3(CASP1):c.719G>A (p.Arg240Gln)	CASP1 (R147Q +2 more)	Single nucleotide variant (missense variant +1 more)	CASP1-related disorder	GLikely benign
Select item 3137564	NM_001257118.3(CASP1):c.709C>T (p.His237Tyr)	CASP1 (H216Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 746150	NM_001257118.3(CASP1):c.669G>A (p.Glu223=)	CASP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3050790	NM_001257118.3(CASP1):c.661C>T (p.Arg221Cys)	CASP1 (R128C +2 more)	Single nucleotide variant (missense variant +1 more)	CASP1-related disorder	GLikely benign
Select item 2313223	NM_001257118.3(CASP1):c.649G>T (p.Ala217Ser)	CASP1 (A196S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278058	NM_001257118.3(CASP1):c.496C>G (p.Leu166Val)	CASP1 (L73V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620997	NM_001257118.3(CASP1):c.481C>T (p.Arg161Cys)	CASP1 (R161C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510831	NM_001257118.3(CASP1):c.479G>A (p.Ser160Asn)	CASP1 (S139N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137563	NM_001257118.3(CASP1):c.472A>G (p.Lys158Glu)	CASP1 (K65E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709976	NM_001257118.3(CASP1):c.429G>A (p.Arg143=)	CASP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3137562	NM_001257118.3(CASP1):c.421G>A (p.Ala141Thr)	CASP1 (A120T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137561	NM_001257118.3(CASP1):c.398T>C (p.Val133Ala)	CASP1 (V112A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285377	NM_001257118.3(CASP1):c.371C>G (p.Pro124Arg)	CASP1 (P103R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619118	NM_001257118.3(CASP1):c.370C>T (p.Pro124Ser)	CASP1 (P103S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263411	NM_001257118.3(CASP1):c.329C>T (p.Ser110Phe)	CASP1 (S110F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375692	NM_001257118.3(CASP1):c.257C>T (p.Thr86Met)	CASP1 (T86M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409756	NM_001257118.3(CASP1):c.250G>T (p.Ala84Ser)	CASP1 (A84S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517112	NM_001257118.3(CASP1):c.215G>T (p.Cys72Phe)	CASP1 (C72F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 720851	NM_001257118.3(CASP1):c.181G>A (p.Val61Ile)	CASP1 (V61I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 786925	NM_001257118.3(CASP1):c.109A>C (p.Lys37Gln)	CASP1 (K37Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2603454	NM_001257118.3(CASP1):c.99G>C (p.Arg33Ser)	CASP1 (R33S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137566	NM_001257118.3(CASP1):c.95C>A (p.Thr32Lys)	CASP1 (T32K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3137565	NM_001257118.3(CASP1):c.94A>T (p.Thr32Ser)	CASP1 (T32S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593264	NM_001257118.3(CASP1):c.43C>T (p.Arg15Cys)	CASP1 (R15C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049546	NC_000011.10:g.105035619_105035631dup	CASP1	Duplication	not provided	GUncertain significance
Select item 1049122	NC_000011.10:g.105035621_105035631dup	CASP1	Duplication	not provided	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	MAML2, MAP3K11 +955 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	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +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 +29 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 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: 70