"GeneDx"[submitter] AND "CASP8"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 1263107	NM_001228.5(CASP8):c.-26-8469T>G	CASP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 402493	NM_001228.5(CASP8):c.-26-8228T>C	CASP8, LOC128772255 (M1T)	Single nucleotide variant (missense variant +4 more)	not specified +1 more	GBenign
Select item 402492	NM_001228.5(CASP8):c.-26-8189A>G	LOC128772255, CASP8 (K14R)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GBenign
Select item 1292384	NM_001372051.1(CASP8):c.305+73T>G	CASP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291088	NM_001372051.1(CASP8):c.306-2095G>T	CASP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 333497	NM_001372051.1(CASP8):c.306-1918T>C	CASP8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1200388	NM_001372051.1(CASP8):c.357T>C (p.Ser119=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1238071	NM_001372051.1(CASP8):c.411+251C>T	CASP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282796	NM_001372051.1(CASP8):c.411+285A>C	CASP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242687	NM_001372051.1(CASP8):c.595+133dup	CASP8	Duplication (intron variant)	not provided	GBenign
Select item 1216307	NM_001372051.1(CASP8):c.595+133del	CASP8	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1242738	NM_001372051.1(CASP8):c.595+122_595+123insC	CASP8	Insertion (intron variant)	not provided	GBenign
Select item 1279418	NM_001372051.1(CASP8):c.660+77dup	CASP8	Duplication (intron variant)	not provided	GBenign
Select item 1236435	NM_001372051.1(CASP8):c.660+262G>C	CASP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 845577	NM_001372051.1(CASP8):c.775G>A (p.Asp259Asn)	CASP8 (D259N +10 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1265335	NM_001372051.1(CASP8):c.802+147T>C	CASP8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 7762	NM_001372051.1(CASP8):c.853G>C (p.Asp285His)	CASP8 (D302H +13 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign
Select item 333505	NM_001372051.1(CASP8):c.960G>A (p.Lys320=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 1191038	NM_001372051.1(CASP8):c.1304+146G>C	CASP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246892	NM_001372051.1(CASP8):c.1305-268A>G	CASP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291089	NM_001372051.1(CASP8):c.1305-42T>G	CASP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168127	NM_001372051.1(CASP8):c.1305-19A>G	CASP8	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 333509	NM_001372051.1(CASP8):c.*60C>T	CASP8	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B +1 more	GBenign/Likely benign
Select item 897578	NM_001372051.1(CASP8):c.*71G>A	CASP8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 333510	NM_001372051.1(CASP8):c.*83G>A	CASP8	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 333512	NM_001372051.1(CASP8):c.*99G>A	CASP8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 333513	NM_001372051.1(CASP8):c.*122G>C	CASP8	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B +1 more	GBenign
Select item 333515	NM_001372051.1(CASP8):c.*175C>T	CASP8	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B +1 more	GBenign
Select item 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32