eleocharis tuberculosis - ClinVar

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Items: 64

The following term was not found in ClinVar: eleocharis.
Showing results for Eleocharis tuberculosa. Your search for Eleocharis tuberculosa retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5210	NM_006610.4(MASP2):c.359A>G (p.Asp120Gly)	MASP2 (D120G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 992569	NM_001374259.2(IL12RB2):c.412C>T (p.Gln138Ter)	IL12RB2 (Q138*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 225994	NM_000569.8(FCGR3A):c.526T>G (p.Phe176Val)	FCGR3A (F176V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 184555	NM_000143.4(FH):c.700A>G (p.Thr234Ala)	FH (T234A)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1172761	NC_000002.12:g.26398040_26425787del	DRC1, LOC129933333	Deletion	Primary ciliary dyskinesia 21	GPathogenic
Select item 14671	NC_000002.12:g.112836810G>A	IL1B	Single nucleotide variant	Gastric cancer susceptibility after h. pylori infection	Grisk factor
Select item 155908	NM_007315.4(STAT1):c.1909A>G (p.Lys637Glu)	STAT1 (K637E +9 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GPathogenic
Select item 9046	NM_007315.4(STAT1):c.1389G>T (p.Gln463His)	STAT1 (Q463H +9 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 9047	NM_007315.4(STAT1):c.958G>C (p.Glu320Gln)	STAT1 (E320Q +5 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GPathogenic
Select item 1710090	NM_007315.4(STAT1):c.373-2A>C	STAT1	Single nucleotide variant (intron variant +1 more)	Immunodeficiency 31B +1 more	GPathogenic
Select item 9232	NM_000578.4(SLC11A1):c.198C>T (p.Phe66=)	SLC11A1	Single nucleotide variant (synonymous variant)	Mycobacterium tuberculosis, susceptibility to infection by	Grisk factor
Select item 638469	NM_000578.4(SLC11A1):c.806T>C (p.Ile269Thr)	SLC11A1 (I269T)	Single nucleotide variant (missense variant)	Mycobacterium tuberculosis, susceptibility to	GUncertain significance
Select item 334891	NM_080424.4(SP110):c.2120G>A (p.Gly707Asp)	SP110 (G707D +6 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	GUncertain significance
Select item 534651	NM_080424.4(SP110):c.1647C>T (p.Cys549=)	SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	GBenign/Likely benign
Select item 334904	NM_080424.4(SP110):c.1447G>A (p.Gly483Arg)	SP110 (G483R +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +2 more	GBenign/Likely benign
Select item 5539	NM_080424.4(SP110):c.1274T>C (p.Leu425Ser)	SP110 (L425S +2 more)	Single nucleotide variant (no sequence alteration +1 more)	not specified +2 more	GBenign
Select item 992484	NM_080424.4(SP110):c.1020_1043dup (p.Cys342_Glu349dup)	SP110, SP140	Duplication (inframe_insertion +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	GUncertain significance
Select item 5540	NM_080424.4(SP110):c.752-483C>T	SP110, SP140	Single nucleotide variant (intron variant)	Mycobacterium tuberculosis, susceptibility to	GUncertain significance
Select item 1675136	NM_080424.4(SP110):c.644G>T (p.Ser215Ile)	SP110, SP140 (S215I +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	GUncertain significance
Select item 334913	NM_080424.4(SP110):c.584-10C>G	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	GConflicting classifications of pathogenicity
Select item 466296	NM_080424.4(SP110):c.583+8A>G	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	GConflicting classifications of pathogenicity
Select item 585056	NM_080424.4(SP110):c.342C>A (p.Ser114Arg)	SP110, SP140 (S114R +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 7091	NC_000003.12:g.50612068A>T	CISH, LOC129936806 +1 more	Single nucleotide variant (5 prime UTR variant)	Malaria, susceptibility to +2 more	Grisk factor
Select item 716824	NM_001318789.2(TLR2):c.271A>G (p.Ile91Val)	TLR2 (I91V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 992555	NM_001318789.2(TLR2):c.1340G>A (p.Arg447Gln)	TLR2 (R447Q)	Single nucleotide variant (missense variant)	Leprosy, susceptibility to, 3 +2 more	GUncertain significance
Select item 776023	NM_001318789.2(TLR2):c.1626C>G (p.Leu542=)	TLR2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 40869	NM_001318789.2(TLR2):c.2258G>A (p.Arg753Gln)	TLR2 (R753Q)	Single nucleotide variant (missense variant)	Mycobacterium tuberculosis, susceptibility to	Grisk factor
Select item 1164377	NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[7] (p.26DFGGG[7])	TENT5A	Microsatellite (inframe_insertion)	not provided +1 more	GBenign
Select item 36371	NM_000416.3(IFNGR1):c.1004A>C (p.His335Pro)	IFNGR1 (H335P +2 more)	Single nucleotide variant (missense variant)	Interferon gamma receptor deficiency +7 more	GBenign/Likely benign
Select item 992563	NM_000416.3(IFNGR1):c.974C>T (p.Pro325Leu)	IFNGR1 (P284L +2 more)	Single nucleotide variant (missense variant)	Helicobacter pylori infection, susceptibility to +4 more	GUncertain significance
Select item 17947	NM_000416.3(IFNGR1):c.819_822del (p.Asn274fs)	IFNGR1 (N233fs +2 more)	Deletion (frameshift variant)	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency +7 more	GPathogenic
Select item 625961	NM_000416.3(IFNGR1):c.665A>G (p.His222Arg)	IFNGR1 (H222R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +5 more	GUncertain significance
Select item 644527	NM_000416.3(IFNGR1):c.566C>A (p.Thr189Lys)	IFNGR1 (T148K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +5 more	GUncertain significance
Select item 17944	NM_000416.3(IFNGR1):c.260T>C (p.Ile87Thr)	IFNGR1 (I87T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 355565	NM_000416.3(IFNGR1):c.-56T>C	IFNGR1	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 27A +2 more	GBenign
Select item 53997	NM_000492.4(CFTR):c.547C>A (p.Leu183Ile)	CFTR (L183I)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 14351	NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu)	MBL2 (G57E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 14350	NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp)	MBL2	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 4467	NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu)	TIRAP (S180L)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 14723	NM_000619.3(IFNG):c.115-485T>A	IFNG	Single nucleotide variant (intron variant)	Mycobacterium tuberculosis, protection against	Gprotective
Select item 65369	NM_000548.5(TSC2):c.4850-2A>G	TSC2	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis 2	GPathogenic
Select item 811661	NM_001370466.1(NOD2):c.1540C>T (p.Arg514Trp)	NOD2 (R514W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 14207	NC_000017.11:g.34252769A>G	CCL2, LOC126862536	Single nucleotide variant	CCL2-related disorder +4 more	GConflicting classifications of pathogenicity; risk factor
Select item 2505170	NM_017950.4(CCDC40):c.2236-213_2832+2269del	CCDC40	Deletion (splice acceptor variant +1 more)	Primary ciliary dyskinesia 15	GPathogenic
Select item 2505169	NM_017950.4(CCDC40):c.2619+45G>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 15	GPathogenic
Select item 625909	NM_021155.4(CD209):c.642G>C (p.Glu214Asp)	CD209 (E214D +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 827974	NM_021155.4(CD209):c.566A>T (p.Gln189Leu)	CD209 (Q145L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 5408	NC_000019.10:g.7747847A>G	CD209, LOC117307477	Single nucleotide variant	Susceptibility to HIV infection +2 more	Gprotective; risk factor
Select item 5409	NC_000019.10:g.7748382A>G	CD209, LOC117307477	Single nucleotide variant	Mycobacterium tuberculosis, susceptibility to	Grisk factor
Select item 137869	NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala)	TYK2 (P1104A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 579038	NM_005535.3(IL12RB1):c.1791+2T>G	IL12RB1	Single nucleotide variant (splice donor variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GPathogenic
Select item 569684	NM_005535.3(IL12RB1):c.1661G>A (p.Gly554Glu)	IL12RB1 (G554E +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 858952	NM_005535.3(IL12RB1):c.1312C>T (p.His438Tyr)	IL12RB1 (H438Y +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 328587	NM_005535.3(IL12RB1):c.1132G>C (p.Gly378Arg)	IL12RB1 (G378R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 328588	NM_005535.3(IL12RB1):c.1094T>C (p.Met365Thr)	IL12RB1 (M365T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 155909	NM_005535.3(IL12RB1):c.1061CCA[1] (p.Thr355del)	IL12RB1 (T355del +1 more)	Microsatellite (inframe_deletion)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 8037	NM_005535.3(IL12RB1):c.1021+1G>C	IL12RB1	Single nucleotide variant (splice donor variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 1456899	NM_005535.3(IL12RB1):c.942C>A (p.Tyr314Ter)	IL12RB1 (Y314* +1 more)	Single nucleotide variant (nonsense)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 8035	NM_005535.3(IL12RB1):c.637C>T (p.Arg213Trp)	IL12RB1 (R213W +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 29969	NM_000397.4(CYBB):c.692A>C (p.Gln231Pro)	CYBB (Q231P)	Single nucleotide variant (missense variant)	X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	GPathogenic
Select item 2585095	NM_000377.3(WAS):c.1079dup (p.Pro361fs)	WAS (P361fs)	Duplication (frameshift variant)	Wiskott-Aldrich syndrome	GLikely pathogenic
Select item 11450	NM_001099857.5(IKBKG):c.1259A>G (p.Ter420Trp)	IKBKG	Single nucleotide variant (stop lost +1 more)	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED +1 more	GPathogenic
Select item 3362893	TNF, 20-BP INS, NT190	TNF	Insertion	IMMUNODEFICIENCY 127	GPathogenic

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Items: 64