"KCCC/NGS Laboratory, Kuwait Cancer Control Center"[submitter] AND "BA - ClinVar

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

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 240055	NM_004656.4(BAP1):c.2057-4G>T	BAP1	Single nucleotide variant (intron variant)	Melanoma, uveal, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 223507	NM_004656.4(BAP1):c.2057-22A>C	BAP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 133665	NM_004656.4(BAP1):c.1838C>T (p.Thr613Met)	BAP1 (T613M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 133664	NM_004656.4(BAP1):c.1786A>G (p.Ser596Gly)	BAP1 (S596G)	Single nucleotide variant (missense variant)	Melanoma, uveal, susceptibility to, 2 +4 more	GBenign
Select item 240050	NM_004656.4(BAP1):c.1729+8T>C	BAP1	Single nucleotide variant (intron variant)	Kury-Isidor syndrome +5 more	GBenign/Likely benign
Select item 417288	NM_004656.4(BAP1):c.1722G>A (p.Ala574=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 490795	NM_004656.4(BAP1):c.1515G>A (p.Ser505=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 346118	NM_004656.4(BAP1):c.1413T>G (p.Ala471=)	BAP1	Single nucleotide variant (synonymous variant)	Melanoma, uveal, susceptibility to, 2 +4 more	GBenign
Select item 240045	NM_004656.4(BAP1):c.1268C>A (p.Thr423Lys)	BAP1 (T423K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 490776	NM_004656.4(BAP1):c.1173C>T (p.Pro391=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 490773	NM_004656.4(BAP1):c.1134G>A (p.Ala378=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related condition +4 more	GLikely benign
Select item 220780	NM_004656.4(BAP1):c.1026C>T (p.Ser342=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +5 more	GBenign/Likely benign
Select item 220641	NM_004656.4(BAP1):c.1002A>G (p.Leu334=)	BAP1	Single nucleotide variant (synonymous variant)	Melanoma, uveal, susceptibility to, 2 +4 more	GBenign/Likely benign
Select item 240070	NM_004656.4(BAP1):c.960C>T (p.Cys320=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +3 more	GBenign/Likely benign
Select item 846072	NM_004656.4(BAP1):c.791G>C (p.Arg264Thr)	BAP1 (R264T)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 240067	NM_004656.4(BAP1):c.783G>A (p.Gln261=)	BAP1	Single nucleotide variant (synonymous variant)	Melanoma, uveal, susceptibility to, 2 +4 more	GBenign/Likely benign
Select item 490880	NM_004656.4(BAP1):c.675C>T (p.Asp225=)	BAP1	Single nucleotide variant (synonymous variant)	Melanoma, uveal, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 223504	NM_004656.4(BAP1):c.660-26T>A	BAP1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 490874	NM_004656.4(BAP1):c.659+17T>A	BAP1	Single nucleotide variant (intron variant)	Melanoma, uveal, susceptibility to, 2 +2 more	GBenign/Likely benign
Select item 417272	NM_004656.4(BAP1):c.642C>T (p.Ile214=)	BAP1	Single nucleotide variant (synonymous variant)	Melanoma, uveal, susceptibility to, 2 +4 more	GLikely benign
Select item 240060	NM_004656.4(BAP1):c.501G>A (p.Ala167=)	BAP1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 490862	NM_004656.4(BAP1):c.375+12T>A	BAP1	Single nucleotide variant (intron variant)	Melanoma, uveal, susceptibility to, 2 +2 more	GBenign/Likely benign
Select item 240057	NM_004656.4(BAP1):c.288G>A (p.Leu96=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +4 more	GBenign
Select item 485258	NM_004656.4(BAP1):c.210C>T (p.Ser70=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 490883	NM_004656.4(BAP1):c.6T>C (p.Asn2=)	BAP1	Single nucleotide variant (synonymous variant)	Melanoma, uveal, susceptibility to, 2 +2 more	GLikely benign

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: 25