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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8739	NM_005263.5(GFI1):c.1145A>G (p.Asn382Ser)	GFI1, LOC129930930 (N382S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 432	NM_000110.4(DPYD):c.1905+1G>A	DPYD	Single nucleotide variant (splice donor variant)	fluorouracil response - Toxicity +3 more	Gdrug response
Select item 35454	NM_001006658.3(CR2):c.1225+1G>C	CR2, LOC126805994	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 812892	NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys)	DNMT3A (Y512C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 13257	NM_001079.4(ZAP70):c.1394G>A (p.Arg465His)	ZAP70 (R465H +1 more)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency	GUncertain significance
Select item 381717	NM_003742.4(ABCB11):c.851T>C (p.Val284Ala)	ABCB11 (V284A)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2 +1 more	GConflicting classifications of pathogenicity
Select item 37055	NM_002468.5(MYD88):c.755T>C (p.Leu252Pro)	MYD88 (L252P +2 more)	Single nucleotide variant (stop lost +1 more)	Pyogenic bacterial infections due to MyD88 deficiency +1 more	GUncertain significance OOncogenic
Select item 225874	NM_024665.7(TBL1XR1):c.1337A>G (p.Tyr446Cys)	TBL1XR1 (Y446C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 224947	NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)	SDHA (A45T)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +6 more	GConflicting classifications of pathogenicity
Select item 91366	NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)	PMS2	Indel (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 53983	NM_000492.4(CFTR):c.509G>A (p.Arg170His)	CFTR (R170H)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 7190	NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	CFTR (L206W)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 7193	NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile)	CFTR (T338I)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 35833	NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	CFTR (G622D)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +5 more	GConflicting classifications of pathogenicity
Select item 53601	NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)	CFTR (S977F)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 53685	NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	CFTR, LOC111674472 (R1070W)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 35866	NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	CFTR, LOC111674472 (R1070Q)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 7237	NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)	CFTR (Q1352H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 53917	NM_000492.4(CFTR):c.4200_4201del (p.Cys1400_Glu1401delinsTer)	CFTR	Microsatellite (nonsense)	Cystic fibrosis	GPathogenic
Select item 13961	NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	BRAF (V600E +7 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic STier I - Strong OOncogenic
Select item 372626	NM_004333.6(BRAF):c.1574T>G (p.Leu525Arg)	BRAF (L525R +7 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 557162	NM_002485.5(NBN):c.1396del (p.Arg466fs)	NBN (R466fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 12577	NM_002467.6(MYC):c.220C>G (p.Pro74Ala)	MYC (P74A +1 more)	Single nucleotide variant (missense variant)	Cholesteatoma of middle ear +1 more	Gother OLikely oncogenic
Select item 88892	NM_016734.3(PAX5):c.547G>A (p.Gly183Ser)	LOC105376032, PAX5 (G183S +2 more)	Single nucleotide variant (missense variant +2 more)	Leukemia, acute lymphoblastic, susceptibility to, 3	Grisk factor
Select item 13711	NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp)	PRF1 (R225W)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +4 more	GPathogenic
Select item 13365	NM_002778.4(PSAP):c.1A>T (p.Met1Leu)	PSAP (M1L)	Single nucleotide variant (missense variant +1 more)	Gaucher disease due to saposin C deficiency +1 more	GPathogenic
Select item 189500	NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)	PTEN (R173C +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 92828	NM_000314.8(PTEN):c.800del (p.Lys267fs)	PTEN (K267fs +2 more)	Deletion (frameshift variant)	Cowden syndrome 1 +3 more	GPathogenic
Select item 653412	NM_000314.8(PTEN):c.968del (p.Asn323fs)	PTEN (N126fs +2 more)	Deletion (frameshift variant)	Cowden syndrome 1 +2 more	GPathogenic
Select item 15404	NM_000518.5(HBB):c.364G>T (p.Glu122Ter)	HBB, LOC107133510 +1 more (E122*)	Single nucleotide variant (nonsense)	Dominant beta-thalassemia +2 more	GPathogenic
Select item 15292	NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	HBB, LOC107133510 +1 more (E122K)	Single nucleotide variant (missense variant)	Sickle cell-Hemoglobin O Arab disease +11 more	GPathogenic/Likely pathogenic
Select item 15138	NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	LOC107133510, HBB +1 more (G70S)	Single nucleotide variant (missense variant)	Hemoglobin E +11 more	GConflicting classifications of pathogenicity
Select item 15613	NM_000518.5(HBB):c.205C>T (p.Leu69Phe)	HBB, LOC106099062 +1 more (L69F)	Single nucleotide variant (missense variant)	alpha Thalassemia +9 more	GPathogenic/Likely pathogenic
Select item 15427	NM_000518.5(HBB):c.114_120del (p.Pro37_Trp38insTer)	LOC107133510, HBB +1 more	Deletion (nonsense)	not provided +1 more	GPathogenic
Select item 15368	NM_000518.5(HBB):c.93G>T (p.Arg31Ser)	HBB, LOC106099062 +1 more (R31S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 15234	NM_000518.4(HBB):c.92G>C (p.Arg31Thr)	HBB, LOC106099062 +1 more (R31T)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 15239	NM_000518.5(HBB):c.82G>T (p.Ala28Ser)	HBB, LOC106099062 +1 more (A28S)	Single nucleotide variant (missense variant)	beta Thalassemia +4 more	GPathogenic/Likely pathogenic
Select item 15423	NM_000518.5(HBB):c.36del (p.Thr13fs)	HBB, LOC106099062 +1 more (T13fs)	Deletion (frameshift variant)	Hemoglobinopathy +1 more	GPathogenic
Select item 15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	HBB, LOC106099062 +1 more (E7V)	Single nucleotide variant (missense variant)	beta Thalassemia +15 more	GPathogenic
Select item 3027	NM_000051.4(ATM):c.3118A>G (p.Met1040Val)	ATM (M1040V)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 100626	NM_000073.3(CD3G):c.205A>T (p.Lys69Ter)	CD3G, LOC126861358 (K69*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to CD3gamma deficiency	GPathogenic
Select item 30591	NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)	GDF3 (R266C)	Single nucleotide variant (missense variant)	Missing ribs +5 more	GConflicting classifications of pathogenicity
Select item 1342138	NM_002868.4(RAB5B):c.406G>C (p.Asp136His)	RAB5B (D136H)	Single nucleotide variant (missense variant +1 more)	RAB5B-associated surfactant dysfunction disorder	GUncertain significance
Select item 13333	NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	PTPN11 (Y63C +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 38208	NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)	BRCA2 (T3033fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 3896	NM_000520.6(HEXA):c.533G>A (p.Arg178His)	HEXA (R178H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2671890	NM_003745.2(SOCS1):c.462C>A (p.Tyr154Ter)	SOCS1 (Y154*)	Single nucleotide variant (nonsense)	Malignant lymphoma, large B-cell, diffuse +1 more	GPathogenic OUncertain significance
Select item 14666	NM_000418.4(IL4R):c.223A>G (p.Ile75Val)	IL4R (I75V +1 more)	Single nucleotide variant (missense variant +1 more)	RECLASSIFIED - POLYMORPHISM	GBenign
Select item 12347	NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	TP53 (R248W +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 372521	NM_139276.3(STAT3):c.1919A>T (p.Tyr640Phe)	STAT3 (Y640F +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity OOncogenic
Select item 574001	NM_007294.4(BRCA1):c.2885A>G (p.Glu962Gly)	BRCA1 (E962G +20 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3233307	NM_003954.5(MAP3K14):c.1694C>G (p.Pro565Arg)	MAP3K14	Single nucleotide variant (missense variant)	Immunodeficiency 112	GPathogenic
Select item 456370	NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)	GAA (P397L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 3685	NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)	LDLR (W87G)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3686	NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)	LDLR (S177L +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3690	NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)	LDLR (D227E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 183108	NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)	LDLR (Q378P +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 183109	NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)	LDLR (A399T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +4 more	GConflicting classifications of pathogenicity
Select item 183110	NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)	LDLR (R416W +3 more)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 3695	NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)	LDLR (A431T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251783	NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr)	LDLR (I441T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251864	NM_000527.5(LDLR):c.1474G>C (p.Asp492His)	LDLR (D492H +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 161285	NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)	LDLR (D492N +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 3698	NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)	LDLR (G549D +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 438324	NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe)	LDLR (L575F +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 200921	NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)	LDLR (H583Y +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +4 more	GPathogenic/Likely pathogenic
Select item 161271	NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)	LDLR (G592E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 183127	NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)	LDLR (E626K +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3702	NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)	LDLR (P685L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 573654	NM_007194.4(CHEK2):c.1095+2T>G	CHEK2	Single nucleotide variant (intron variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 4459	NM_052945.4(TNFRSF13C):c.265_288del (p.Leu89_Val96del)	LOC130067574, TNFRSF13C	Deletion (inframe_indel +1 more)	Immunodeficiency, common variable, 4	GPathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130067918, LOC130067919 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068528, LOC130068529 +2634 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	ARMCX5, ARMCX5-GPRASP2 +2634 more	Copy number loss	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	APOO, APOOL +2634 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068308, LOC130068309 +2634 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	LOC126863325, LOC126863326 +2633 more	Copy number gain	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	LOC130068075, LOC130068076 +2633 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	LOC130068278, LOC130068279 +2633 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	LOC130068310, LOC130068311 +2633 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	ABCB7, ABCD1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	LOC107988022, LOC107988024 +2629 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC130067944, LOC130067945 +2629 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	LOC130067929, LOC130067930 +2633 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068219, LOC130068220 +2633 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863224, LOC126863225 +2632 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC121627971, LOC121627972 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	FUNDC1, FUNDC2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863244, LOC126863245 +2633 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC130068098, LOC130068099 +2633 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic

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