ClinVar for MedGen (Select 316941) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 587546	NM_001783.4(CD79A):c.419C>T (p.Thr140Ile)	CD79A (T140I +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 3, autosomal recessive +1 more	GUncertain significance
Select item 492821	NM_000061.3(BTK):c.1946del (p.Ser649fs)	BTK (S683fs +2 more)	Deletion (frameshift variant)	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 492820	NM_000061.3(BTK):c.1706T>C (p.Leu569Pro)	BTK (L569P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 492819	NM_000061.3(BTK):c.1630_1631+3delinsGAAA	BTK	Indel (splice donor variant)	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 492818	NM_000061.3(BTK):c.1581_1584del (p.Cys527fs)	BTK (C351fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 492817	NM_000061.3(BTK):c.1567-2A>T	BTK	Single nucleotide variant (splice acceptor variant)	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 492816	NM_000061.3(BTK):c.1475G>A (p.Arg492His)	BTK (R492H +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked agammaglobulinemia +1 more	GConflicting classifications of pathogenicity
Select item 492815	NM_000061.3(BTK):c.1116G>C (p.Arg372Ser)	BTK (R372S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 492814	NM_000061.3(BTK):c.953C>T (p.Ser318Phe)	BTK (S318F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 492813	NM_000061.3(BTK):c.863G>A (p.Arg288Gln)	BTK (R288Q +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic
Select item 492812	NM_000061.3(BTK):c.435C>A (p.Cys145Ter)	BTK (C145* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 492811	NM_000061.3(BTK):c.371G>A (p.Trp124Ter)	BTK (W124* +1 more)	Single nucleotide variant (nonsense)	X-linked agammaglobulinemia with growth hormone deficiency +1 more	GPathogenic/Likely pathogenic
Select item 492810	NM_000061.3(BTK):c.161del (p.Gly54fs)	BTK (G54fs +1 more)	Deletion (frameshift variant)	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 492809	NM_000061.3(BTK):c.141+3_141+6del	BTK	Deletion (splice donor variant)	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 11383	NM_000061.3(BTK):c.1684C>T (p.Arg562Trp)	BTK (R562W +2 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia with growth hormone deficiency	GPathogenic
Select item 11377	NM_000061.3(BTK):c.1558C>T (p.Arg520Ter)	BTK (R520* +1 more)	Single nucleotide variant (nonsense +1 more)	X-linked agammaglobulinemia with growth hormone deficiency +2 more	GPathogenic
Select item 11363	NM_000061.3(BTK):c.763C>T (p.Arg255Ter)	BTK (R255* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 11348	NM_000061.3(BTK):c.83G>A (p.Arg28His)	BTK (R28H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 11342	NM_000061.3(BTK):c.1574G>A (p.Arg525Gln)	BTK (R525Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic