"PreventionGenetics, part of Exact Sciences"[submitter] AND "BLK"[gene - ClinVar

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

Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045986	NC_000008.11:g.11474237T>A	BLK, FAM167A	Single nucleotide variant	BLK-related condition	GLikely benign
Select item 258177	NM_001715.3(BLK):c.39G>A (p.Lys13=)	BLK	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 3052293	NM_001715.3(BLK):c.72C>T (p.Ser24=)	BLK	Single nucleotide variant (synonymous variant +1 more)	BLK-related condition	GLikely benign
Select item 128525	NM_001715.3(BLK):c.102C>T (p.Asp34=)	BLK	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 258175	NM_001715.3(BLK):c.116C>T (p.Pro39Leu)	BLK (P39L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2628799	NM_001715.3(BLK):c.176A>G (p.Asp59Gly)	BLK (D59G)	Single nucleotide variant (5 prime UTR variant +1 more)	BLK-related condition	GUncertain significance
Select item 12319	NM_001715.3(BLK):c.211G>A (p.Ala71Thr)	BLK (A71T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 128526	NM_001715.3(BLK):c.258G>A (p.Gln86=)	BLK	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2633066	NM_001715.3(BLK):c.284G>A (p.Trp95Ter)	BLK (W24* +1 more)	Single nucleotide variant (nonsense)	BLK-related condition	GUncertain significance
Select item 128527	NM_001715.3(BLK):c.330T>C (p.Ser110=)	BLK	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2152056	NM_001715.3(BLK):c.351G>A (p.Glu117=)	BLK	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 619202	NM_001715.3(BLK):c.392G>A (p.Arg131Gln)	LOC126860303, BLK (R131Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 258178	NM_001715.3(BLK):c.472+12G>A	BLK, LOC126860303	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 712998	NM_001715.3(BLK):c.473-7C>G	BLK	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3031724	NM_001715.3(BLK):c.546G>C (p.Leu182=)	BLK	Single nucleotide variant (synonymous variant)	BLK-related condition	GLikely benign
Select item 1804430	NM_001715.3(BLK):c.574C>G (p.Arg192Gly)	BLK (R121G +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2413254	NM_001715.3(BLK):c.665G>A (p.Arg222His)	BLK (R151H +1 more)	Single nucleotide variant (missense variant)	BLK-related condition +1 more	GUncertain significance
Select item 361485	NM_001715.3(BLK):c.711C>T (p.Pro237=)	BLK	Single nucleotide variant (synonymous variant)	BLK-related condition +3 more	GBenign/Likely benign
Select item 210528	NM_001715.3(BLK):c.713G>A (p.Arg238Gln)	BLK (R238Q +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11 +2 more	GBenign/Likely benign
Select item 3047563	NM_001715.3(BLK):c.759C>T (p.Gly253=)	BLK	Single nucleotide variant (synonymous variant)	BLK-related condition	GLikely benign
Select item 258179	NM_001715.3(BLK):c.772+16C>T	BLK	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 128529	NM_001715.3(BLK):c.843T>C (p.Phe281=)	BLK	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 361489	NM_001715.3(BLK):c.974A>C (p.Lys325Thr)	BLK (K325T +1 more)	Single nucleotide variant (missense variant)	BLK-related condition +3 more	GConflicting classifications of pathogenicity
Select item 3031188	NM_001715.3(BLK):c.1029+7G>A	BLK	Single nucleotide variant (intron variant)	BLK-related condition	GLikely benign
Select item 3032124	NM_001715.3(BLK):c.1065T>C (p.Asn355=)	BLK	Single nucleotide variant (synonymous variant)	BLK-related condition	GLikely benign
Select item 619205	NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)	BLK (R359C +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11 +3 more	GConflicting classifications of pathogenicity
Select item 2630344	NM_001715.3(BLK):c.1088C>T (p.Ala363Val)	BLK (A292V +1 more)	Single nucleotide variant (missense variant)	BLK-related condition	GUncertain significance
Select item 258176	NM_001715.3(BLK):c.1302G>A (p.Val434=)	BLK	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 11 +2 more	GLikely benign
Select item 3054708	NM_001715.3(BLK):c.1313-8del	BLK	Deletion (intron variant)	BLK-related condition	GLikely benign
Select item 1624860	NM_001715.3(BLK):c.1338C>G (p.Arg446=)	BLK	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3037816	NM_001715.3(BLK):c.1464G>A (p.Ser488=)	BLK	Single nucleotide variant (synonymous variant)	BLK-related condition	GLikely benign
Select item 910867	NM_001715.2(BLK):c.*500G>T	BLK	Single nucleotide variant	Maturity-onset diabetes of the young type 11 +1 more	GConflicting classifications of pathogenicity
Select item 3036683	NC_000008.11:g.11564614T>C	BLK	Single nucleotide variant	BLK-related condition	GLikely benign
Select item 12321	NC_000008.11:g.11573132C>T	BLK	Single nucleotide variant	BLK-related condition +1 more	GBenign

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: 34