ClinVar for MedGen (Select 65123) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 150

<< First< Prev

Page of 2

	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 3341073	NM_000061.3(BTK):c.1925C>T (p.Pro642Leu)	BTK, TIMM8A (P466L +2 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 3339749	NM_000061.3(BTK):c.310dupG	BTK	Duplication (splice acceptor variant)	X-linked agammaglobulinemia	GPathogenic
Select item 3241994	NM_000061.3(BTK):c.463T>G (p.Cys155Gly)	BTK (C155G +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 3234961	NM_000061.3(BTK):c.449G>A (p.Gly150Glu)	BTK (G150E +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia	GUncertain significance
Select item 3234960	NM_000061.3(BTK):c.451C>T (p.Gln151Ter)	BTK (Q151* +1 more)	Single nucleotide variant (nonsense)	X-linked agammaglobulinemia	GLikely pathogenic
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 2682294	NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)	BTK (R465P +2 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia +1 more	GConflicting classifications of pathogenicity
Select item 2585028	NM_000061.3(BTK):c.1900T>C (p.Trp634Arg)	BTK (W458R +2 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia	GUncertain significance
Select item 2506041	NM_000061.3(BTK):c.280del (p.Ile94fs)	BTK (I128fs +1 more)	Deletion (frameshift variant)	X-linked agammaglobulinemia	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 2431606	NM_000061.3(BTK):c.588+2T>C	BTK	Single nucleotide variant (splice donor variant)	X-linked agammaglobulinemia	GPathogenic
Select item 2431420	NM_000061.3(BTK):c.271C>T (p.Gln91Ter)	BTK (Q125* +1 more)	Single nucleotide variant (nonsense)	X-linked agammaglobulinemia	GPathogenic
Select item 2431408	NM_000061.3(BTK):c.1685G>A (p.Arg562Gln)	BTK (R386Q +2 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 1727238	NM_000061.3(BTK):c.1834C>T (p.Gln612Ter)	BTK (Q436* +2 more)	Single nucleotide variant (nonsense)	X-linked agammaglobulinemia +1 more	GPathogenic
Select item 1710048	NM_000061.3(BTK):c.904G>A (p.Gly302Arg)	BTK (G302R +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 1705620	NM_000061.3(BTK):c.372G>T (p.Trp124Cys)	BTK (W124C +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 1699267	NM_000061.3(BTK):c.1257del (p.Lys420fs)	BTK (K420fs +1 more)	Deletion (frameshift variant +1 more)	X-linked agammaglobulinemia	GPathogenic
Select item 1683491	NM_000061.3(BTK):c.126T>A (p.Tyr42Ter)	BTK (Y42* +1 more)	Single nucleotide variant (nonsense)	X-linked agammaglobulinemia	GPathogenic
Select item 1683490	NM_000061.3(BTK):c.164dup (p.Ile56fs)	BTK (I56fs +1 more)	Duplication (frameshift variant)	X-linked agammaglobulinemia	GPathogenic
Select item 1683489	NM_000061.3(BTK):c.1632-2A>T	BTK	Single nucleotide variant (splice acceptor variant)	X-linked agammaglobulinemia	GPathogenic
Select item 1683488	NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter)	BTK (Y392* +1 more)	Single nucleotide variant (nonsense +1 more)	X-linked agammaglobulinemia with growth hormone deficiency	GPathogenic
Select item 1683487	NM_000061.3(BTK):c.842G>A (p.Trp281Ter)	BTK (W281* +1 more)	Single nucleotide variant (nonsense)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 1675116	NM_000061.3(BTK):c.1690T>C (p.Ser564Pro)	BTK (S388P +2 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia +1 more	GUncertain significance
Select item 1617259	NM_000061.3(BTK):c.1103-11C>G	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia +1 more	GBenign/Likely benign
Select item 1526241	NM_000061.3(BTK):c.839+1G>C	BTK	Single nucleotide variant (splice donor variant)	X-linked agammaglobulinemia +1 more	GLikely pathogenic
Select item 1339547	NM_000061.3(BTK):c.1792T>A (p.Tyr598Asn)	BTK (Y422N +2 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia	GPathogenic
Select item 1335900	NM_000061.3(BTK):c.829G>T (p.Glu277Ter)	BTK (E277* +1 more)	Single nucleotide variant (nonsense)	X-linked agammaglobulinemia	GPathogenic
Select item 1334133	NM_000061.3(BTK):c.895-2del	BTK	Deletion (splice acceptor variant)	X-linked agammaglobulinemia	GPathogenic
Select item 1329077	NM_000061.3(BTK):c.1716dup (p.Lys573fs)	BTK (K397fs +2 more)	Duplication (frameshift variant)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 1328188	NM_000061.3(BTK):c.1355T>C (p.Leu452Pro)	BTK (L452P +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 1228380	NM_000061.3(BTK):c.991dup (p.Ile331fs)	BTK (I331fs +1 more)	Duplication (frameshift variant)	X-linked agammaglobulinemia	GPathogenic
Select item 1192427	NM_000061.3(BTK):c.776+78G>A	BTK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1192385	NM_000061.3(BTK):c.1631+71C>T	BTK	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1175185	NM_000061.3(BTK):c.1781G>A (p.Gly594Glu)	BTK (G418E +2 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia	GPathogenic
Select item 1065150	NM_000061.3(BTK):c.233del (p.Gln78fs)	BTK (Q112fs +1 more)	Deletion (frameshift variant)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 1012315	NM_000061.3(BTK):c.1349+1G>A	BTK	Single nucleotide variant (splice donor variant +1 more)	X-linked agammaglobulinemia +1 more	GPathogenic
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 973552	NM_000061.3(BTK):c.300T>A (p.Tyr100Ter)	BTK (Y100* +1 more)	Single nucleotide variant (nonsense)	X-linked agammaglobulinemia	GPathogenic
Select item 946996	NM_000061.3(BTK):c.82C>T (p.Arg28Cys)	BTK (R28C +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia +1 more	GPathogenic
Select item 944765	NM_000061.3(BTK):c.867T>A (p.Ser289Arg)	BTK (S289R +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia +1 more	GConflicting classifications of pathogenicity
Select item 929109	NM_000061.3(BTK):c.1889T>C (p.Met630Thr)	BTK (M454T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 928589	NM_000061.3(BTK):c.806del (p.Val269fs)	BTK (V269fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 928588	NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter)	BTK (Y395* +2 more)	Single nucleotide variant (nonsense)	X-linked agammaglobulinemia	GLikely pathogenic
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 915143	NM_000061.3(BTK):c.100G>A (p.Val34Met)	BTK (V34M +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia +2 more	GUncertain significance
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 912392	NM_000061.3(BTK):c.*221G>T	BTK	Single nucleotide variant (3 prime UTR variant)	X-linked agammaglobulinemia +1 more	GBenign
Select item 811384	NM_000061.3(BTK):c.1103-2A>G	BTK	Single nucleotide variant (splice acceptor variant +1 more)	not specified +1 more	GPathogenic/Likely pathogenic
Select item 804065	NM_000061.3(BTK):c.36G>T (p.Lys12Asn)	BTK (K12N +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 804064	NM_000061.3(BTK):c.721dup (p.Tyr241fs)	BTK (Y241fs +1 more)	Duplication (frameshift variant)	X-linked agammaglobulinemia with growth hormone deficiency +1 more	GPathogenic
Select item 804063	NM_000061.3(BTK):c.1784dup (p.Met596fs)	BTK (M630fs +2 more)	Duplication (frameshift variant)	X-linked agammaglobulinemia	GPathogenic
Select item 738494	NM_000061.3(BTK):c.1252T>C (p.Tyr418His)	BTK (Y418H +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked agammaglobulinemia +3 more	GBenign/Likely benign
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 645226	NM_000061.3(BTK):c.1763G>A (p.Trp588Ter)	BTK (W588* +2 more)	Single nucleotide variant (nonsense)	X-linked agammaglobulinemia +1 more	GPathogenic
Select item 632732	NM_000061.3(BTK):c.1138C>T (p.Gln380Ter)	BTK (Q380* +1 more)	Single nucleotide variant (nonsense +1 more)	X-linked agammaglobulinemia with growth hormone deficiency +1 more	GPathogenic
Select item 632731	NM_000061.3(BTK):c.655del (p.Val219fs)	BTK (V219fs +1 more)	Deletion (frameshift variant)	X-linked agammaglobulinemia with growth hormone deficiency +1 more	GPathogenic
Select item 632730	NM_000061.3(BTK):c.240G>A (p.Pro80=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia +2 more	GConflicting classifications of pathogenicity
Select item 632729	NM_000061.3(BTK):c.588+1G>T	BTK	Single nucleotide variant (splice donor variant)	X-linked agammaglobulinemia +1 more	GPathogenic/Likely pathogenic
Select item 632728	NM_000061.3(BTK):c.176AGA[1] (p.Lys60del)	BTK (K94del +1 more)	Microsatellite (inframe_deletion)	X-linked agammaglobulinemia +1 more	GPathogenic
Select item 619022	NM_000061.3(BTK):c.1004T>A (p.Val335Asp)	BTK (V335D +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia	GPathogenic
Select item 571649	NM_000061.3(BTK):c.1526T>C (p.Met509Thr)	BTK (M509T +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked agammaglobulinemia +1 more	GPathogenic/Likely pathogenic
Select item 562232	NM_000061.3(BTK):c.726dup (p.Ile243fs)	BTK (I243fs +1 more)	Duplication (frameshift variant)	X-linked agammaglobulinemia	GPathogenic
Select item 495529	NM_000061.3(BTK):c.799_806del (p.Asn267fs)	BTK (N301fs +1 more)	Deletion (frameshift variant)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 495528	NM_000061.3(BTK):c.588+2T>A	BTK	Single nucleotide variant (splice donor variant)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 495527	NM_000061.3(BTK):c.164C>A (p.Ser55Ter)	BTK (S55* +1 more)	Single nucleotide variant (nonsense)	X-linked agammaglobulinemia	GLikely pathogenic
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 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 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 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 461818	NM_000061.3(BTK):c.720A>C (p.Glu240Asp)	BTK (E240D +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia +2 more	GUncertain significance
Select item 439452	NM_000061.3(BTK):c.1780G>A (p.Gly594Arg)	BTK (G594R +2 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia with growth hormone deficiency +2 more	GPathogenic
Select item 419415	NM_000061.3(BTK):c.894+1G>A	BTK	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
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
Select item 367698	NM_000061.3(BTK):c.520+15C>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia +3 more	GConflicting classifications of pathogenicity
Select item 367697	NM_000061.3(BTK):c.852A>G (p.Lys284=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia +1 more	GConflicting classifications of pathogenicity
Select item 367696	NM_000061.3(BTK):c.895-10G>A	BTK	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 367695	NM_000061.3(BTK):c.954T>C (p.Ser318=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia +2 more	GBenign
Select item 367694	NM_000061.3(BTK):c.*116A>C	BTK	Single nucleotide variant (3 prime UTR variant)	X-linked agammaglobulinemia +2 more	GBenign
Select item 367693	NM_000061.3(BTK):c.*192G>A	BTK	Single nucleotide variant (3 prime UTR variant)	X-linked agammaglobulinemia +2 more	GBenign
Select item 367692	NM_000061.3(BTK):c.*334T>G	BTK	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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 367690	NM_000061.3(BTK):c.*334TG[4]	BTK	Microsatellite (3 prime UTR variant)	X-linked agammaglobulinemia +1 more	GLikely benign
Select item 286327	NM_000061.3(BTK):c.615G>T (p.Glu205Asp)	BTK (E205D +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia with growth hormone deficiency +3 more	GBenign/Likely benign
Select item 279713	NM_000061.3(BTK):c.215dup (p.Asn72fs)	BTK (N72fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 254784	NM_000061.3(BTK):c.1899C>T (p.Cys633=)	BTK	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 235712	NM_000061.3(BTK):c.141+11C>T	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia +3 more	GConflicting classifications of pathogenicity
Select item 194911	NM_000061.3(BTK):c.1909-9T>C	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia +2 more	GConflicting classifications of pathogenicity
Select item 35766	NM_000061.3(BTK):c.998A>G (p.His333Arg)	BTK (H333R +1 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia with growth hormone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 35765	NM_000061.3(BTK):c.895-2A>G	BTK	Single nucleotide variant (splice acceptor variant)	X-linked agammaglobulinemia +1 more	GPathogenic/Likely pathogenic
Select item 35764	NM_000061.3(BTK):c.840-1G>A	BTK	Single nucleotide variant (splice acceptor variant)	X-linked agammaglobulinemia +1 more	GLikely pathogenic
Select item 35763	NM_000061.3(BTK):c.777-3C>G	BTK	Single nucleotide variant (intron variant)	X-linked agammaglobulinemia	GUncertain significance
Select item 35762	NM_000061.3(BTK):c.777-2A>G	BTK	Single nucleotide variant (splice acceptor variant)	X-linked agammaglobulinemia with growth hormone deficiency +1 more	GPathogenic/Likely pathogenic
Select item 35761	NM_000061.3(BTK):c.472_475del (p.Thr158fs)	BTK (T158fs +1 more)	Deletion (frameshift variant)	X-linked agammaglobulinemia +1 more	GPathogenic
Select item 35759	NM_000061.3(BTK):c.1673_1680del (p.Lys558fs)	BTK (K382fs +2 more)	Deletion (frameshift variant)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 35758	NM_000061.3(BTK):c.1511A>T (p.Asp504Val)	BTK (D504V +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 35757	NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter)	BTK (Y485* +1 more)	Single nucleotide variant (nonsense +1 more)	X-linked agammaglobulinemia	GPathogenic

<< First< Prev

Page of 2