mesembryanthemum products - ClinVar - NCBI

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The following term was not found in ClinVar: mesembryanthemum.
Showing results for Mesembryanthemum productum. Your search for Mesembryanthemum productum retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3521	NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)	MTHFR (E470A)	Single nucleotide variant (missense variant)	Neural tube defects, folate-sensitive +3 more	GBenign/Likely benign; other
Select item 439575	NM_007272.3(CTRC):c.640-12G>A	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis +1 more	GConflicting classifications of pathogenicity
Select item 428931	NM_003000.3(SDHB):c.424-1G>A	SDHB	Single nucleotide variant (splice acceptor variant)	Paragangliomas 4 +3 more	GPathogenic
Select item 29896	NM_003000.3(SDHB):c.423+1G>A	SDHB	Single nucleotide variant (splice donor variant +1 more)	Gastrointestinal stromal tumor +6 more	GPathogenic
Select item 2733857	NM_005529.7(HSPG2):c.10982G>A (p.Arg3661Gln)	HSPG2 (R3661Q +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 988780	NM_000147.5(FUCA1):c.662_662+8del	FUCA1	Deletion (splice donor variant)	Fucosidosis	GLikely pathogenic
Select item 1326	NM_024296.5(CCDC28B):c.330C>T (p.Phe110=)	CCDC28B	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GUncertain significance; risk factor
Select item 18255	NM_001625.4(AK2):c.498+1G>A	AK2	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency disease +1 more	GPathogenic
Select item 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 960992	NM_017739.4(POMGNT1):c.1285-2A>T	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GPathogenic
Select item 2202761	NM_000098.3(CPT2):c.340+5G>A	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely pathogenic
Select item 873537	NM_001085487.3(MYSM1):c.399G>A (p.Leu133=)	MYSM1	Single nucleotide variant (synonymous variant)	Bone marrow failure syndrome 4	GPathogenic
Select item 750796	NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)	RPE65 (D477G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +5 more	GPathogenic/Likely pathogenic
Select item 3586	NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	ACADM (K329E +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +4 more	GPathogenic/Likely pathogenic
Select item 635991	NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu)	ABCA4 (K2160E +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2098053	NM_000350.3(ABCA4):c.5898+5G>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 99403	NM_000350.3(ABCA4):c.5714+5G>A	ABCA4	Single nucleotide variant (intron variant)	Stargardt disease +7 more	GPathogenic/Likely pathogenic
Select item 99385	NM_000350.3(ABCA4):c.5584+6T>C	ABCA4	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 438100	NM_000350.3(ABCA4):c.5196+1137G>A	ABCA4	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 866589	NM_000350.3(ABCA4):c.4849G>A (p.Val1617Met)	ABCA4, LOC126805793 (V1617M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 497057	NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)	ABCA4, LOC126805794 (G1203E +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +7 more	GConflicting classifications of pathogenicity
Select item 236097	NM_000350.3(ABCA4):c.2919-10T>C	ABCA4	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 867061	NM_000350.3(ABCA4):c.2654-8T>G	ABCA4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 417978	NM_000350.3(ABCA4):c.160+5G>C	ABCA4	Single nucleotide variant (intron variant)	not provided	GPathogenic/Likely pathogenic
Select item 1048762	NM_000549.5(TSHB):c.108_109del (p.Ala37fs)	TSHB (A37fs)	Microsatellite (frameshift variant)	Isolated thyroid-stimulating hormone deficiency	GPathogenic
Select item 427758	NM_005267.5(GJA8):c.827C>T (p.Ser276Phe)	GJA8 (S276F)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 265536	NM_021222.3(PRUNE1):c.521-2A>G	PRUNE1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 381463	NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln)	GATAD2B (R414Q)	Single nucleotide variant (missense variant)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more	GPathogenic/Likely pathogenic
Select item 12448	NM_152263.4(TPM3):c.855-1G>A	TPM3	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GUncertain significance
Select item 4290	NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	GBA1, LOC106627981 (N409S +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +12 more	GPathogenic/Likely pathogenic; risk factor
Select item 292839	NM_170707.4(LMNA):c.1488G>A (p.Thr496=)	LMNA	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to LMNA mutation +16 more	GConflicting classifications of pathogenicity
Select item 3256110	NM_000530.8(MPZ):c.279G>T (p.Gly93=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate D	GLikely pathogenic
Select item 863300	NM_005562.3(LAMC2):c.405-2A>G	LAMC2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 14559	NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter)	LAMC2 (R245*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa +1 more	GPathogenic/Likely pathogenic
Select item 2243	NM_000433.4(NCF2):c.366+1G>A	NCF2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 16547	NM_000186.4(CFH):c.565G>T (p.Glu189Ter)	CFH (E189*)	Single nucleotide variant (nonsense)	Factor H deficiency	GPathogenic
Select item 43673	NM_001276345.2(TNNT2):c.851+1G>A	TNNT2	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 2 +5 more	GPathogenic/Likely pathogenic
Select item 431759	NM_000574.5(CD55):c.596C>T (p.Ser199Leu)	CD55 (S199L)	Single nucleotide variant (missense variant +1 more)	CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE	GPathogenic
Select item 14543	NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)	LAMB3 (E210K)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GPathogenic/Likely pathogenic
Select item 374768	NM_014053.4(FLVCR1):c.1092+5G>A	FLVCR1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 438037	NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)	USH2A (G3320C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 1064426	NM_198551.4(MIA3):c.3621A>G (p.Arg1207=)	MIA3	Single nucleotide variant (synonymous variant)	ODONTOCHONDRODYSPLASIA WITH HEARING LOSS AND DIABETES	GPathogenic
Select item 1048517	NM_000254.3(MTR):c.609+1088G>A	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 380082	NM_198076.6(COX20):c.157+3G>C	COX20	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 11 +1 more	GPathogenic/Likely pathogenic
Select item 3247741	NC_000001.11:g.(?_9981031)_(9982701_?)dup	NMNAT1	Duplication	Leber congenital amaurosis 9	GPathogenic
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 2697321	NM_001011.4(RPS7):c.-19+1G>T	RPS7	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia 8	GPathogenic
Select item 975151	NM_015909.4(NBAS):c.6433-2A>G	NBAS	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 488656	NM_020779.4(WDR35):c.143-18T>A	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly	GPathogenic
Select item 17881	NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs)	APOB (N1755fs)	Deletion (frameshift variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GPathogenic
Select item 374255	NM_000384.3(APOB):c.2988_2994del (p.Gly997fs)	APOB (G997fs)	Deletion (frameshift variant)	Hypobetalipoproteinemia	GLikely pathogenic
Select item 1706561	NM_000939.4(POMC):c.-21+1G>A	LOC108167315, POMC	Single nucleotide variant (splice donor variant)	Obesity due to pro-opiomelanocortin deficiency	GPathogenic
Select item 1695419	NM_000183.3(HADHB):c.693del (p.Ala232fs)	HADHB (A210fs +2 more)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 1691100	NM_000183.3(HADHB):c.1165A>G (p.Asn389Asp)	HADHB (N367D +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency 1 +1 more	GPathogenic/Likely pathogenic
Select item 236028	NM_170672.3(RASGRP3):c.-261+9727G>T	RASGRP3	Single nucleotide variant (intron variant)	Lip and oral cavity carcinoma	Gassociation
Select item 157604	NM_002354.3(EPCAM):c.492-2A>G	EPCAM	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 90833	NM_000251.3(MSH2):c.1A>G (p.Met1Val)	MSH2 (M1V)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 90832	NM_000251.3(MSH2):c.1A>C (p.Met1Leu)	MSH2 (M1L)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 142708	NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)	MSH2 (G71R +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic/Likely pathogenic
Select item 450032	NM_000251.3(MSH2):c.645+2T>C	MSH2	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1766047	NM_000251.3(MSH2):c.917_918del (p.Ala306fs)	MSH2 (A306fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 90600	NM_000251.3(MSH2):c.1277-14C>G	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GUncertain significance
Select item 1929270	NM_000251.3(MSH2):c.1661+2T>G	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome 1 +1 more	GPathogenic
Select item 419555	NM_000251.3(MSH2):c.2459-2A>G	MSH2	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 419737	NM_000179.3(MSH6):c.260+2_260+3delinsAG	LOC129933707, MSH6	Indel (splice donor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic/Likely pathogenic
Select item 419037	NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del)	MSH6 (L540del +2 more)	Microsatellite (inframe_deletion)	Lynch syndrome	GPathogenic
Select item 14384	NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly)	STON1-GTF2A1L, LHCGR (D578G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 50906	NM_032208.3(ANTXR1):c.505C>T (p.Arg169Ter)	ANTXR1 (R169*)	Single nucleotide variant (nonsense)	GAPO syndrome	GLikely pathogenic
Select item 977278	NM_152792.4(ASPRV1):c.688C>A (p.Pro230Thr)	ASPRV1 (P314T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant lamellar ichthyosis	GPathogenic
Select item 977279	NM_152792.4(ASPRV1):c.680G>C (p.Arg227Pro)	ASPRV1 (R311P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant lamellar ichthyosis	GPathogenic
Select item 977277	NM_152792.4(ASPRV1):c.343A>G (p.Lys115Glu)	ASPRV1 (K199E +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant lamellar ichthyosis	GPathogenic
Select item 2982184	NM_001130987.2(DYSF):c.888G>A (p.Glu296=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 94331	NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)	DYSF (K1598N +13 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +3 more	GConflicting classifications of pathogenicity
Select item 18443	NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)	DYSF (R1810K +13 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +4 more	GPathogenic/Likely pathogenic
Select item 973735	NM_001371279.1(REEP1):c.303+2T>C	REEP1	Single nucleotide variant (splice donor variant +1 more)	Hereditary spastic paraplegia 31	GPathogenic
Select item 3510	NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)	NPHP1 (G343R +4 more)	Single nucleotide variant (missense variant)	Joubert syndrome with renal defect +4 more	GPathogenic
Select item 50372	NM_182915.3(STEAP3):c.330C>A (p.Cys110Ter)	STEAP3, STEAP3-AS1 (C100* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe congenital hypochromic anemia with ringed sideroblasts	GPathogenic
Select item 14051	NM_001164508.2(NEB):c.22479+1G>C	NEB, RIF1	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2	GPathogenic
Select item 16081	NM_000408.5(GPD2):c.1904T>C (p.Phe635Ser)	GPD2 (F635S)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus	GPathogenic
Select item 6593	NM_003742.4(ABCB11):c.150+3A>C	ABCB11	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 2 +2 more	GPathogenic/Likely pathogenic
Select item 202442	NM_001267550.2(TTN):c.43727_43728del (p.Glu14576fs)	TTN (E12935fs +5 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 101317	NM_000090.4(COL3A1):c.997-2A>G	COL3A1	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 101447	NM_000090.4(COL3A1):c.997-1G>C	COL3A1	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 17202	NM_000090.4(COL3A1):c.1347+1G>A	COL3A1	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic
Select item 101144	NM_000090.4(COL3A1):c.1347+3A>C	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17212	NM_000090.4(COL3A1):c.1761+5G>T	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 101495	NM_000090.4(COL3A1):c.1762-2A>G	COL3A1	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17227	NM_000090.4(COL3A1):c.2212G>A (p.Gly738Ser)	COL3A1	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 101153	NM_000090.4(COL3A1):c.2337G>A (p.Lys779=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 101304	NM_000090.4(COL3A1):c.2655_2661+7delinsGACCTGAGAC	COL3A1	Indel (splice donor variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 101383	NM_000090.4(COL3A1):c.3989del (p.Glu1330fs)	COL3A1 (E1330fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 2948670	NM_007315.4(STAT1):c.1127+1G>A	STAT1	Single nucleotide variant (splice donor variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GLikely pathogenic
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 219763	NM_000465.4(BARD1):c.1904-2A>T	BARD1	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 127717	NM_000465.4(BARD1):c.1569-13C>G	BARD1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2749886	NM_000465.4(BARD1):c.1313A>C (p.Lys438Thr)	BARD1 (K438T +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 229677	NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter)	BARD1 (R406* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 127746	NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)	BARD1 (L239Q +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 576037	NM_000465.4(BARD1):c.215+2T>C	BARD1	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 578893	NM_000465.4(BARD1):c.159-1G>A	BARD1	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic/Likely pathogenic

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