Related gene-specific medical variations for Gene (Select 695) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376125	NM_000061.3:c.(240+1_241-1)_(391+1_392-1)del	BTK	Deletion	X-linked agammaglobulinemia	GPathogenic
Select item 3362535	NM_000061.3(BTK):c.1771dup (p.Tyr591fs)	BTK (Y415fs +2 more)	Duplication (frameshift variant)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 3359016	NM_000061.3:c.495_(520+1_521-1)del	BTK	Deletion	X-linked agammaglobulinemia	GPathogenic
Select item 3243987	NC_000023.10:g.(?_100611020)_(100615763_?)del	BTK	Deletion	X-linked agammaglobulinemia with growth hormone deficiency	GPathogenic
Select item 3243976	NC_000023.10:g.(?_100624966)_(100641212_?)del	BTK	Deletion	X-linked agammaglobulinemia with growth hormone deficiency	GPathogenic
Select item 3243965	NC_000023.10:g.(?_100604873)_(100604964_?)del	BTK	Deletion	X-linked agammaglobulinemia with growth hormone deficiency	GPathogenic
Select item 3065666	NM_000061.3(BTK):c.1566_1566+9del	BTK	Deletion (splice donor variant +1 more)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 3064142	NM_000061.3(BTK):c.1635T>A (p.Tyr545Ter)	BTK (Y369* +2 more)	Single nucleotide variant (nonsense)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 3024655	GRCh37/hg19 Xq22.1(chrX:100604873-100630304)x0	BTK	Copy number loss	not provided	GPathogenic
Select item 2503444	NM_000061.3(BTK):c.119_120dup (p.Glu41fs)	BTK (E41fs +1 more)	Duplication (frameshift variant)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 1684760	NM_001287344.2(BTK):c.27G>A (p.Met9Ile)	BTK, LOC130068496 (M9I)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1334133	NM_000061.3(BTK):c.895-2del	BTK	Deletion (splice acceptor variant)	X-linked agammaglobulinemia	GPathogenic
Select item 1323987	NM_000061.3(BTK):c.1938dup (p.Leu647fs)	BTK (L471fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 973552	NM_000061.3(BTK):c.300T>A (p.Tyr100Ter)	BTK (Y100* +1 more)	Single nucleotide variant (nonsense)	X-linked agammaglobulinemia	GPathogenic
Select item 931378	NM_000061.3(BTK):c.895-12T>C	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia with growth hormone deficiency	GUncertain significance
Select item 811751	NM_000061.3(BTK):c.484_500del (p.Ala162fs)	BTK (A162fs +1 more)	Deletion (frameshift variant)	not specified	GLikely pathogenic
Select item 811670	NM_001287344.2(BTK):c.63C>T (p.Ser21=)	BTK, LOC130068496	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 636945	NM_000061.3(BTK):c.142-205A>G	BTK	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 636572	NM_000061.3(BTK):c.1701A>C (p.Glu567Asp)	BTK (E567D +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 636441	NM_000061.3(BTK):c.1349+4A>T	BTK	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 402436	NC_000023.11:g.101390479T>C	BTK, LOC130068496 (E24G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 376751	NM_000061.3(BTK):c.121G>A (p.Glu41Lys)	BTK (E41K +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia	GLikely pathogenic
Select item 11393	BTK, 26-BP INS, NT2019	BTK	Insertion	X-linked agammaglobulinemia	GPathogenic
Select item 11391	NM_000061.3(BTK):c.1908_1909insTTTTAG (p.Lys637delinsPheTer)	BTK	Insertion (nonsense)	X-linked agammaglobulinemia	GPathogenic
Select item 11365	BTK, 1-BP DEL/3-BP INS, CODON 261	BTK	Indel	X-linked agammaglobulinemia	GPathogenic
Select item 11350	BTK, ALA-ASP, 1952C-A	BTK	Single nucleotide variant	Hypogammaglobulinemia, X-linked	GPathogenic

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Links from Gene

Items: 26