eleocharis mori - ClinVar

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Items: 93

The following term was not found in ClinVar: eleocharis.
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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1161892	NM_015102.5(NPHP4):c.2717G>A (p.Arg906His)	NPHP4 (R393H +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GLikely benign
Select item 13678	NM_000478.6(ALPL):c.648+1G>A	ALPL	Single nucleotide variant (splice donor variant)	Hypophosphatasia +3 more	GPathogenic
Select item 558588	NM_000478.6(ALPL):c.661G>C (p.Gly221Arg)	ALPL (G221R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 4385	NM_057176.3(BSND):c.28G>A (p.Gly10Ser)	BSND (G10S)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GPathogenic/Likely pathogenic
Select item 216416	NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)	NPHP1 (E677Q +4 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 1 +6 more	GConflicting classifications of pathogenicity
Select item 1339514	NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)	IDUA (L491P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypokalemia-hypomagnesemia +2 more	GPathogenic/Likely pathogenic
Select item 632441	NM_001080476.3(GRXCR1):c.439C>T (p.Arg147Cys)	GRXCR1 (R147C)	Single nucleotide variant (missense variant)	Hearing impairment +1 more	GConflicting classifications of pathogenicity
Select item 505242	NM_001080476.3(GRXCR1):c.784C>T (p.Arg262Ter)	GRXCR1 (R262*)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 694062	NM_133267.3(GSX2):c.26C>A (p.Ser9Ter)	GSX2 (S9*)	Single nucleotide variant (nonsense)	Diencephalic-mesencephalic junction dysplasia syndrome 2	GPathogenic
Select item 694063	NM_133267.3(GSX2):c.752A>G (p.Gln251Arg)	GSX2 (Q251R)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 2	GPathogenic
Select item 194585	NM_000038.6(APC):c.4348C>T (p.Arg1450Ter)	APC (R1432* +12 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 1 +4 more	GPathogenic OOncogenic
Select item 370192	NM_000441.2(SLC26A4):c.916dup (p.Val306fs)	SLC26A4 (V306fs)	Duplication (frameshift variant)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
Select item 432545	NM_001458.5(FLNC):c.4991C>T (p.Thr1664Met)	FLNC (T1664M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +6 more	GConflicting classifications of pathogenicity
Select item 707276	NM_001458.5(FLNC):c.5944C>T (p.Arg1982Cys)	FLNC-AS1, FLNC (R1949C +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 1753987	NM_001458.5(FLNC):c.6518G>A (p.Arg2173His)	FLNC, FLNC-AS1 (R2140H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 9412	NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)	CDKN2A (G101W +2 more)	Single nucleotide variant (missense variant +1 more)	Melanoma and neural system tumor syndrome +6 more	GPathogenic
Select item 31151	NM_001256054.1(C9orf72):c.-45+163GGGGCC[>24]	C9orf72, LOC109504728 +1 more	Microsatellite	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	GPathogenic
Select item 6025	NM_005476.7(GNE):c.2135T>C (p.Met712Thr)	GNE (M712T +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 6028	NM_005476.7(GNE):c.2086G>A (p.Val696Met)	GNE (V696M +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2506249	NM_005476.7(GNE):c.1877A>G (p.His626Arg)	GNE (H516R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 283229	NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)	GNE (L603F +5 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 498574	NM_005476.7(GNE):c.917G>A (p.Arg306Gln)	GNE (R306Q +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 188847	NM_005476.7(GNE):c.829C>T (p.Arg277Cys)	GNE (R277C +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 41233	NM_005476.7(GNE):c.527A>T (p.Asp176Val)	GNE (D207V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 189156	NM_005476.7(GNE):c.386G>A (p.Arg129Gln)	GNE (R160Q +2 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GPathogenic/Likely pathogenic
Select item 551266	NM_005476.7(GNE):c.80C>T (p.Pro27Leu)	GNE (P58L +1 more)	Single nucleotide variant (missense variant +1 more)	GNE myopathy +2 more	GPathogenic/Likely pathogenic
Select item 564	NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter)	SLC29A3 (E444* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	H syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1009489	NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)	CDH23 (R1417W)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 446157	NM_016169.4(SUFU):c.527A>G (p.His176Arg)	SUFU (H176R)	Single nucleotide variant (missense variant)	Joubert syndrome 32	GPathogenic
Select item 822842	NM_016169.4(SUFU):c.895C>T (p.Arg299Ter)	SUFU (R299*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 446156	NM_016169.4(SUFU):c.1217T>C (p.Ile406Thr)	SUFU (I406T)	Single nucleotide variant (missense variant)	Medulloblastoma +1 more	GUncertain significance
Select item 7486	NM_002775.4(HTRA1):c.-625G>A	HTRA1	Single nucleotide variant	Age related macular degeneration 7 +1 more	Grisk factor
Select item 236058	NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)	TBCEL-TECTA, TECTA (T1866M +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 230297	NM_000075.4(CDK4):c.829A>G (p.Thr277Ala)	TSPAN31, CDK4 (T277A)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +3 more	GUncertain significance
Select item 181496	NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln)	PTPN11 (E76Q +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 51708	NM_000059.4(BRCA2):c.475+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51801	NM_000059.4(BRCA2):c.517-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 864574	NM_000059.4(BRCA2):c.3086dup (p.Met1029fs)	BRCA2 (M1029fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic/Likely pathogenic
Select item 38076	NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)	BRCA2 (R2318*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 630829	NM_000059.4(BRCA2):c.7847C>T (p.Ser2616Phe)	BRCA2 (S2616F)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 805147	NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)	PKD1 (R4149C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2635201	NM_001009944.3(PKD1):c.10904C>A (p.Ala3635Asp)	PKD1, PKD1-AS1 (A3634D +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 811336	NM_001009944.3(PKD1):c.10903G>C (p.Ala3635Pro)	PKD1, PKD1-AS1 (A3634P +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder +1 more	GUncertain significance
Select item 625138	NM_005236.3(ERCC4):c.388+1164_792+795del	ERCC4	Deletion (splice acceptor variant +1 more)	XFE progeroid syndrome +2 more	GPathogenic/Likely pathogenic
Select item 16580	NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	ERCC4 (R799W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +7 more	GConflicting classifications of pathogenicity
Select item 142586	NM_024675.4(PALB2):c.3350+5G>A	PALB2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic/Likely pathogenic
Select item 492218	NM_024675.4(PALB2):c.3350+2C>G	PALB2	Single nucleotide variant (intron variant +1 more)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 232594	NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)	PALB2 (R1117K)	Single nucleotide variant (missense variant)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 2577273	NM_001126108.2(SLC12A3):c.791delinsGCGTGGTCTCGGTCATTGG (p.Ala264delinsGlyValValSerValIleGly)	SLC12A3	Indel (inframe_indel)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 225469	NM_001126108.2(SLC12A3):c.1732G>A (p.Val578Met)	SLC12A3 (V578M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 8595	NM_001126108.2(SLC12A3):c.1868T>C (p.Leu623Pro)	SLC12A3 (L623P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1458237	NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His)	SLC12A3 (R861H +2 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 554887	NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)	FANCA, ZNF276 (R1400C +1 more)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 1322873	NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer)	FANCA, ZNF276	Microsatellite (frameshift variant +3 more)	Fanconi anemia +1 more	GPathogenic
Select item 3448	NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)	FANCA (E1240fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A +1 more	GPathogenic
Select item 974143	NM_000135.4(FANCA):c.2527T>G (p.Tyr843Asp)	FANCA (Y843D)	Single nucleotide variant (missense variant)	FANCA-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2231633	NM_000135.4(FANCA):c.462T>A (p.Tyr154Ter)	FANCA (Y154*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 554309	NM_000135.4(FANCA):c.2T>C (p.Met1Thr)	FANCA, LOC112486223 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 2501039	NC_000016.9:g.(89877480_89880927)_(89883066_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 1723355	NC_000016.9:g.(89846366_89849266)_(89849511_89851261)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 996300	NM_139276.3(STAT3):c.1919_1920delinsTT (p.Tyr640Phe)	STAT3 (Y608F +7 more)	Indel (missense variant)	not specified	GUncertain significance
Select item 54588	NM_007294.4(BRCA1):c.2513del (p.Asn838fs)	BRCA1 (N791fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 4033	NM_000152.5(GAA):c.525del (p.Glu176fs)	GAA (E176fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 972791	NM_000152.5(GAA):c.743T>C (p.Leu248Pro)	GAA (L248P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 325781	NM_000152.5(GAA):c.752C>T (p.Ser251Leu)	GAA (S251L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +2 more	GConflicting classifications of pathogenicity
Select item 325782	NM_000152.5(GAA):c.761C>T (p.Ser254Leu)	GAA (S254L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +2 more	GConflicting classifications of pathogenicity
Select item 928706	NM_000152.5(GAA):c.836G>A (p.Trp279Ter)	GAA (W279*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GLikely pathogenic
Select item 4021	NM_000152.5(GAA):c.953T>C (p.Met318Thr)	GAA (M318T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 555820	NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)	GAA (W367R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 632821	NM_000152.5(GAA):c.1195-19_2190-17del	GAA	Deletion (splice acceptor variant +1 more)	Glycogen storage disease, type II	GPathogenic
Select item 972762	NM_000152.5(GAA):c.1327-2A>G	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 188874	NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)	GAA (E471fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 929167	NM_000152.5(GAA):c.1716C>G (p.His572Gln)	GAA (H572Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 558604	NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)	GAA (R660C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 571521	NM_000152.5(GAA):c.2221G>A (p.Asp741Asn)	GAA (D741N)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 499293	NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)	GAA (W746R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370904	NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)	GAA (W746*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 1048589	NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)	GAA (Y928C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 1804653	NC_000017.10:g.(78082407_78082495)_(78087166_78090766)del	GAA	Deletion	Glycogen storage disease, type II	GPathogenic
Select item 178396	NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)	LOXHD1 (R1494* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77 +4 more	GPathogenic/Likely pathogenic
Select item 1340728	GRCh37/hg19 18p11.21(chr18:11109971-11176380)x1	PIEZO2	Copy number loss	not provided	GPathogenic
Select item 7282	NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)	DNM2 (E368K)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 7280	NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)	DNM2 (R369W)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GPathogenic FDA Recognized database
Select item 161278	NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)	LDLR (R814Q +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 17864	NM_000041.4(APOE):c.388T>C (p.Cys130Arg)	APOE (C130R +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +4 more	GConflicting classifications of pathogenicity; other; risk factor
Select item 13252	NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa)	PRKCG	Deletion (stop lost +2 more)	Spinocerebellar ataxia type 14	GPathogenic
Select item 6202	NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr)	PLA2G6 (A80T)	Single nucleotide variant (missense variant +1 more)	PLA2G6-associated neurodegeneration +4 more	GPathogenic/Likely pathogenic
Select item 9793	GRCh38/hg38 Xq22.2(chrX:106032435-106038727)x2,3	SERPINA7	Copy number gain	Thyroxine-binding globulin quantitative trait locus	Gassociation
Select item 9785	NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe)	SERPINA7 (L303F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 9783	NM_000354.6(SERPINA7):c.740T>C (p.Leu247Pro)	SERPINA7 (L247P)	Single nucleotide variant (missense variant)	Thyroxine-binding globulin quantitative trait locus	Gassociation
Select item 9790	NM_000354.5(SERPINA7):c.347T>A (p.Ile116Asn)	SERPINA7 (I116N)	Single nucleotide variant (missense variant)	Thyroxine-binding globulin deficiency, partial	GPathogenic
Select item 1804775	NM_000054.7(AVPR2):c.427C>T (p.Arg143Cys)	AVPR2 (R143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 10124	NC_000023.11:g.(154805077_154806947)_(155030999_?)del	F8, F8A1 +16 more	Deletion	Hereditary factor VIII deficiency disease	GPathogenic

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Items: 93