C0472813[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976606	NM_000061.3(BTK):c.*390G>A	BTK	Single nucleotide variant (3 prime UTR variant)	X-linked agammaglobulinemia +1 more	GUncertain significance
Select item 367691	NM_000061.3(BTK):c.*342T>G	BTK	Single nucleotide variant (3 prime UTR variant)	X-linked agammaglobulinemia +1 more	GUncertain significance
Select item 367692	NM_000061.3(BTK):c.*334T>G	BTK	Single nucleotide variant (3 prime UTR variant)	X-linked agammaglobulinemia with growth hormone deficiency +1 more	GBenign
Select item 912392	NM_000061.3(BTK):c.*221G>T	BTK	Single nucleotide variant (3 prime UTR variant)	X-linked agammaglobulinemia +1 more	GBenign
Select item 367693	NM_000061.3(BTK):c.*192G>A	BTK	Single nucleotide variant (3 prime UTR variant)	X-linked agammaglobulinemia +1 more	GBenign
Select item 367694	NM_000061.3(BTK):c.*116A>C	BTK	Single nucleotide variant (3 prime UTR variant)	X-linked agammaglobulinemia with growth hormone deficiency +2 more	GBenign
Select item 913516	NM_000061.3(BTK):c.1977C>T (p.Ser659=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 194911	NM_000061.3(BTK):c.1909-9T>C	BTK	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 254784	NM_000061.3(BTK):c.1899C>T (p.Cys633=)	BTK	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 367695	NM_000061.3(BTK):c.954T>C (p.Ser318=)	BTK	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 367696	NM_000061.3(BTK):c.895-10G>A	BTK	Single nucleotide variant (intron variant)	BTK-related condition +3 more	GBenign/Likely benign
Select item 367697	NM_000061.3(BTK):c.852A>G (p.Lys284=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia with growth hormone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 647326	NM_000061.3(BTK):c.777-1G>A	BTK	Single nucleotide variant (splice acceptor variant)	X-linked agammaglobulinemia +1 more	GPathogenic/Likely pathogenic
Select item 286327	NM_000061.3(BTK):c.615G>T (p.Glu205Asp)	BTK (E205D +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 367698	NM_000061.3(BTK):c.520+15C>T	BTK	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 235712	NM_000061.3(BTK):c.141+11C>T	BTK	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 915143	NM_000061.3(BTK):c.100G>A (p.Val34Met)	BTK (V34M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 915144	NM_000061.3(BTK):c.-87C>T	BTK	Single nucleotide variant (5 prime UTR variant +1 more)	X-linked agammaglobulinemia +1 more	GUncertain significance
Select item 367699	NM_000061.3(BTK):c.-105G>T	BTK	Single nucleotide variant (5 prime UTR variant +1 more)	X-linked agammaglobulinemia +1 more	GUncertain significance