"Fulgent Genetics, Fulgent Genetics"[submitter] AND "BLK"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1649647	NM_001715.3(BLK):c.27G>A (p.Pro9=)	BLK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 258177	NM_001715.3(BLK):c.39G>A (p.Lys13=)	BLK	Single nucleotide variant (synonymous variant +1 more)	Systemic lupus erythematosus +3 more	GBenign
Select item 549525	NM_001715.3(BLK):c.67T>C (p.Trp23Arg)	BLK (W23R)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 11 +2 more	GUncertain significance
Select item 128525	NM_001715.3(BLK):c.102C>T (p.Asp34=)	BLK	Single nucleotide variant (synonymous variant +1 more)	Systemic lupus erythematosus +3 more	GBenign/Likely benign
Select item 128524	NM_001715.3(BLK):c.139C>G (p.Leu47Val)	BLK (L47V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 619206	NM_001715.3(BLK):c.164A>G (p.His55Arg)	BLK (H55R)	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 11	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)	Monogenic diabetes +3 more	GBenign/Likely benign
Select item 1601555	NM_001715.3(BLK):c.269+13G>C	BLK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 910759	NM_001715.3(BLK):c.368+13G>A	BLK	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 11 +1 more	GLikely benign
Select item 361480	NM_001715.3(BLK):c.424A>G (p.Ile142Val)	BLK, LOC126860303 (I142V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 911982	NM_001715.3(BLK):c.465C>G (p.Thr155=)	BLK, LOC126860303	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 11	GLikely benign
Select item 1664321	NM_001715.3(BLK):c.591G>T (p.Ser197=)	BLK	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 11 +1 more	GLikely benign
Select item 361484	NM_001715.3(BLK):c.672C>T (p.Ala224=)	BLK	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1653759	NM_001715.3(BLK):c.675G>A (p.Pro225=)	BLK	Single nucleotide variant (synonymous variant)	not provided +1 more	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 1503499	NM_001715.3(BLK):c.809C>T (p.Thr270Met)	BLK (T270M +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11 +1 more	GUncertain significance
Select item 1331414	NM_001715.3(BLK):c.859G>A (p.Val287Met)	BLK (V216M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 +2 more	GConflicting classifications of pathogenicity
Select item 361492	NM_001715.3(BLK):c.1089G>A (p.Ala363=)	BLK	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 910817	NM_001715.3(BLK):c.1142T>C (p.Leu381Ser)	BLK (L310S +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 912037	NM_001715.3(BLK):c.1252G>A (p.Val418Met)	BLK (V347M +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 1624860	NM_001715.3(BLK):c.1338C>G (p.Arg446=)	BLK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 361497	NM_001715.3(BLK):c.1351G>A (p.Gly451Ser)	BLK (G451S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1660733	NM_001715.3(BLK):c.1371C>T (p.Pro457=)	BLK	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 11 +1 more	GLikely benign

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Items: 24