8915[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 2883599	NM_003921.5(BCL10):c.699A>G (p.Gln233=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 1471908	NM_003921.5(BCL10):c.695G>A (p.Arg232Gln)	BCL10 (R221Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 652565	NM_003921.5(BCL10):c.694C>T (p.Arg232Ter)	BCL10 (R221* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency 37 +4 more	GUncertain significance
Select item 1142626	NM_003921.5(BCL10):c.687T>C (p.Thr229=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 1449095	NM_003921.5(BCL10):c.685A>T (p.Thr229Ser)	BCL10 (T218S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 1019881	NM_003921.5(BCL10):c.682C>T (p.Arg228Cys)	BCL10 (R217C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 1056866	NM_003921.5(BCL10):c.649A>G (p.Asn217Asp)	BCL10 (N206D +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 2488017	NM_003921.5(BCL10):c.640A>G (p.Thr214Ala)	BCL10 (T203A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402410	NM_003921.5(BCL10):c.638G>A (p.Gly213Glu)	BCL10 (G213E +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37 +2 more	GBenign
Select item 6258	NM_003921.5(BCL10):c.629AAG[2] (p.Glu212del)	BCL10 (E212del +1 more)	Microsatellite (inframe_deletion)	Follicular lymphoma	GPathogenic
Select item 960572	NM_003921.5(BCL10):c.624G>C (p.Gln208His)	BCL10 (Q197H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 2033189	NM_003921.5(BCL10):c.621A>G (p.Leu207=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 1967967	NM_003921.5(BCL10):c.597G>A (p.Gly199=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 800046	NM_003921.5(BCL10):c.588G>A (p.Gly196=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 1507303	NM_003921.5(BCL10):c.578C>T (p.Pro193Leu)	BCL10 (P182L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 1373053	NM_003921.5(BCL10):c.568A>G (p.Thr190Ala)	BCL10 (T179A +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 1588861	NM_003921.5(BCL10):c.552T>C (p.Asn184=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 6255	NM_003921.5(BCL10):c.525_541del (p.Val176fs)	BCL10 (V165fs +1 more)	Deletion (frameshift variant)	Follicular lymphoma	GPathogenic
Select item 862382	NM_003921.5(BCL10):c.530T>G (p.Leu177Arg)	BCL10 (L166R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 1715183	NM_003921.5(BCL10):c.529C>A (p.Leu177Ile)	BCL10 (L166I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37 +1 more	GUncertain significance
Select item 849346	NM_003921.5(BCL10):c.529C>G (p.Leu177Val)	BCL10 (L177V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 795556	NM_003921.5(BCL10):c.529C>T (p.Leu177=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 2185746	NM_003921.5(BCL10):c.505A>C (p.Asn169His)	BCL10 (N169H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 6250	NM_003921.5(BCL10):c.499dup (p.Ser167fs)	BCL10 (S156fs +1 more)	Duplication (frameshift variant)	Male germ cell tumor, somatic +2 more	GPathogenic
Select item 758473	NM_003921.5(BCL10):c.489G>A (p.Thr163=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 30361	NM_003921.5(BCL10):c.488C>T (p.Thr163Met)	BCL10 (T163M +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of testis	GPathogenic
Select item 1595808	NM_003921.5(BCL10):c.486G>A (p.Thr162=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 2063733	NM_003921.5(BCL10):c.485C>T (p.Thr162Met)	BCL10 (T151M +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 998471	NM_003921.5(BCL10):c.445G>A (p.Ala149Thr)	BCL10 (A138T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 935417	NM_003921.5(BCL10):c.433_437delinsTTTTT (p.Glu145_Lys146delinsPheLeu)	BCL10	Indel (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 1476290	NM_003921.5(BCL10):c.433G>C (p.Glu145Gln)	BCL10 (E134Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 6253	NM_003921.5(BCL10):c.427_428dup (p.Glu145fs)	BCL10 (E145fs +1 more)	Duplication (frameshift variant)	Follicular lymphoma	GPathogenic
Select item 6260	NM_003921.5(BCL10):c.428del (p.Phe143fs)	BCL10 (F132fs +1 more)	Deletion (frameshift variant)	Sezary syndrome	GPathogenic
Select item 2068200	NM_003921.5(BCL10):c.425A>G (p.Asn142Ser)	BCL10 (N131S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 2156003	NM_003921.5(BCL10):c.424A>C (p.Asn142His)	BCL10 (N142H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 1055135	NM_003921.5(BCL10):c.419del (p.Glu140fs)	BCL10 (E129fs +1 more)	Deletion (frameshift variant)	Immunodeficiency 37	GUncertain significance
Select item 6256	NM_003921.5(BCL10):c.410del (p.Asn137fs)	BCL10 (N137fs +1 more)	Deletion (frameshift variant)	Follicular lymphoma	GPathogenic
Select item 1541800	NM_003921.5(BCL10):c.402C>T (p.Ser134=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 6257	NM_003921.5(BCL10):c.398dup (p.Ser134fs)	BCL10 (S123fs +1 more)	Duplication (frameshift variant)	Follicular lymphoma	GPathogenic
Select item 1399484	NM_003921.5(BCL10):c.395A>G (p.Asn132Ser)	BCL10 (N121S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 750570	NM_003921.5(BCL10):c.390G>A (p.Thr130=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 948261	NM_003921.5(BCL10):c.379G>A (p.Asp127Asn)	BCL10 (D127N)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 37	GUncertain significance
Select item 644239	NM_003921.5(BCL10):c.370C>G (p.Pro124Ala)	BCL10 (P124A)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 37	GUncertain significance
Select item 2417108	NM_003921.5(BCL10):c.366T>G (p.Cys122Trp)	BCL10 (C122W)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 37	GUncertain significance
Select item 1113677	NM_003921.5(BCL10):c.366T>C (p.Cys122=)	BCL10	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 37	GLikely benign
Select item 1042576	NM_003921.5(BCL10):c.360_362dup (p.Ser121dup)	BCL10	Duplication (inframe_insertion +1 more)	Immunodeficiency 37	GUncertain significance
Select item 1121432	NM_003921.5(BCL10):c.360C>T (p.Ser120=)	BCL10	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 37	GLikely benign
Select item 1714882	NM_003921.5(BCL10):c.356G>A (p.Cys119Tyr)	BCL10 (C119Y)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 37 +1 more	GUncertain significance
Select item 1977681	NM_003921.5(BCL10):c.348A>G (p.Gly116=)	BCL10	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 37	GLikely benign
Select item 744757	NM_003921.5(BCL10):c.347-4G>T	BCL10	Single nucleotide variant (intron variant)	Immunodeficiency 37	GLikely benign
Select item 475274	NM_003921.5(BCL10):c.347-5T>C	BCL10	Single nucleotide variant (intron variant)	Immunodeficiency 37	GBenign
Select item 2900319	NM_003921.5(BCL10):c.346+8dup	BCL10	Duplication (intron variant)	Immunodeficiency 37	GLikely benign
Select item 795882	NM_003921.5(BCL10):c.346+9T>C	BCL10	Single nucleotide variant (intron variant)	Immunodeficiency 37	GBenign
Select item 475273	NM_003921.5(BCL10):c.346+6A>G	BCL10	Single nucleotide variant (intron variant)	Immunodeficiency 37	GLikely benign
Select item 6252	NM_003921.5(BCL10):c.345del (p.Gly116fs)	BCL10 (G116fs +1 more)	Deletion (frameshift variant)	Mucosa-associated lymphoma	GPathogenic
Select item 3133376	NM_003921.5(BCL10):c.343A>C (p.Lys115Gln)	BCL10 (K115Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 475272	NM_003921.5(BCL10):c.338A>T (p.His113Leu)	BCL10 (H113L)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 1655836	NM_003921.5(BCL10):c.333A>G (p.Leu111=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 1347618	NM_003921.5(BCL10):c.325A>G (p.Ile109Val)	BCL10 (I109V)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 953216	NM_003921.5(BCL10):c.322A>G (p.Asn108Asp)	BCL10 (N108D)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 3001518	NM_003921.5(BCL10):c.294G>A (p.Lys98=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 936125	NM_003921.5(BCL10):c.289C>G (p.Gln97Glu)	BCL10 (Q97E)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 1021998	NM_003921.5(BCL10):c.286A>G (p.Ile96Val)	BCL10 (I96V)	Single nucleotide variant (missense variant)	Immunodeficiency 37 +1 more	GUncertain significance
Select item 934334	NM_003921.5(BCL10):c.285_286delinsCG (p.Ile96Val)	BCL10 (I96V)	Indel (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 3038573	NM_003921.5(BCL10):c.285G>C (p.Leu95=)	BCL10	Single nucleotide variant (synonymous variant)	BCL10-related disorder	GLikely benign
Select item 854836	NM_003921.5(BCL10):c.271A>C (p.Thr91Pro)	BCL10 (T91P)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 948247	NM_003921.5(BCL10):c.263G>A (p.Arg88Gln)	BCL10 (R88Q)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 1003339	NM_003921.5(BCL10):c.260G>A (p.Arg87Gln)	BCL10 (R87Q)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 6254	NM_003921.5(BCL10):c.231dup (p.Gly78fs)	BCL10 (G78fs)	Duplication (frameshift variant)	Follicular lymphoma	GPathogenic
Select item 2086361	NM_003921.5(BCL10):c.217C>T (p.Gln73Ter)	BCL10 (Q73*)	Single nucleotide variant (nonsense)	Immunodeficiency 37	GPathogenic
Select item 1128859	NM_003921.5(BCL10):c.205T>C (p.Leu69=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 576800	NM_003921.5(BCL10):c.181A>G (p.Ser61Gly)	BCL10 (S61G)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 6266	NM_003921.5(BCL10):c.172C>T (p.Arg58Ter)	BCL10 (R58*)	Single nucleotide variant (nonsense)	Immunodeficiency 37	GPathogenic
Select item 6265	NM_003921.5(BCL10):c.172C>G (p.Arg58Gly)	BCL10 (R58G)	Single nucleotide variant (missense variant)	Male germ cell tumor, somatic	GPathogenic
Select item 2972802	NM_003921.5(BCL10):c.165T>A (p.Ile55=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 6251	NM_003921.5(BCL10):c.163dup (p.Ile55fs)	BCL10 (I55fs)	Duplication (frameshift variant)	Mucosa-associated lymphoma	GPathogenic
Select item 1616797	NM_003921.5(BCL10):c.156T>C (p.Thr52=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 651016	NM_003921.5(BCL10):c.151G>C (p.Asp51His)	BCL10 (D51H)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 2188363	NM_003921.5(BCL10):c.141C>T (p.Leu47=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 6259	NM_003921.5(BCL10):c.136dup (p.Ile46fs)	BCL10 (I46fs)	Duplication (frameshift variant)	Carcinoma of colon +1 more	GPathogenic
Select item 6263	NM_003921.5(BCL10):c.136del (p.Ile46fs)	BCL10 (I46fs)	Deletion (frameshift variant)	Mesothelioma	GPathogenic
Select item 2977433	NM_003921.5(BCL10):c.132A>G (p.Lys44=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 1087829	NM_003921.5(BCL10):c.123A>G (p.Leu41=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 2099852	NM_003921.5(BCL10):c.121C>T (p.Leu41=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 1606358	NM_003921.5(BCL10):c.82C>T (p.Leu28=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 1063260	NM_003921.5(BCL10):c.76G>A (p.Val26Ile)	BCL10 (V26I)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 2796611	NM_003921.5(BCL10):c.72A>G (p.Leu24=)	BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 1009636	NM_003921.5(BCL10):c.58G>A (p.Ala20Thr)	BCL10 (A20T)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 1600943	NM_003921.5(BCL10):c.58-3dup	BCL10	Duplication (intron variant)	Immunodeficiency 37	GBenign
Select item 860273	NM_003921.5(BCL10):c.58-3del	BCL10	Deletion (intron variant)	Immunodeficiency 37	GUncertain significance
Select item 765188	NM_003921.5(BCL10):c.58-5T>C	BCL10	Single nucleotide variant (intron variant)	Immunodeficiency 37	GLikely benign
Select item 1529100	NM_003921.5(BCL10):c.58-18A>G	BCL10	Single nucleotide variant (intron variant)	Immunodeficiency 37	GLikely benign
Select item 2032965	NM_003921.5(BCL10):c.57+16G>A	BCL10, LOC126805771	Single nucleotide variant (intron variant)	Immunodeficiency 37	GLikely benign
Select item 2085163	NM_003921.5(BCL10):c.57+13G>A	BCL10, LOC126805771	Single nucleotide variant (intron variant)	Immunodeficiency 37	GLikely benign
Select item 1168245	NM_003921.5(BCL10):c.57+11C>G	BCL10, LOC126805771	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 753291	NM_003921.5(BCL10):c.57+9C>T	BCL10, LOC126805771	Single nucleotide variant (intron variant)	Immunodeficiency 37	GLikely benign
Select item 160347	NM_003921.5(BCL10):c.57+1G>A	BCL10, LOC126805771	Single nucleotide variant (splice donor variant)	Immunodeficiency 37	GPathogenic

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