flacourtia balance - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 2460

<< First< Prev

Page of 25

The following term was not found in ClinVar: flacourtia.
Showing results for Flacourtia balansae. Your search for Flacourtia balansae retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm of stomach +7 more	GPathogenic/Likely pathogenic
Select item 1339164	NM_000254.3(MTR):c.2404C>T (p.Arg802Ter)	MTR (R395* +2 more)	Single nucleotide variant (nonsense)	Methylcobalamin deficiency type cblG	GPathogenic/Likely pathogenic
Select item 17895	NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter)	APOB (R2522*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 375882	NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)	DNMT3A (R693C +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder +4 more	GPathogenic
Select item 916017	NM_194323.3(OTOF):c.3691T>C (p.Ter1231Arg)	OTOF	Single nucleotide variant (stop lost +1 more)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 548986	NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln)	OTOF (R1939Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 446440	NM_194248.3(OTOF):c.5466C>G (p.Tyr1822Ter)	OTOF (Y1822* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 446439	NM_194248.3(OTOF):c.1946_1965del (p.Arg649fs)	OTOF (R649fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 40177	NM_194248.3(OTOF):c.1621G>A (p.Gly541Ser)	OTOF (G541S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 446438	NM_194248.3(OTOF):c.1422T>A (p.Tyr474Ter)	OTOF (Y474*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 446442	NM_194248.3(OTOF):c.897+5G>A	OTOF	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1450917	NM_004341.5(CAD):c.5428C>T (p.Arg1810Trp)	CAD (R1747W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 430739	NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp)	DYSF (G1828D +13 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GPathogenic
Select item 140740	NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys)	KIF5C (E237K)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 2 +1 more	GPathogenic/Likely pathogenic
Select item 438054	NM_201548.5(CERKL):c.316C>A (p.Arg106Ser)	CERKL (R106S)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 26 +2 more	GPathogenic/Likely pathogenic
Select item 16323	NM_212482.4(FN1):c.5773T>A (p.Trp1925Arg)	FN1 (W1925R +3 more)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2	GPathogenic
Select item 44260	NM_001927.4(DES):c.38C>T (p.Ser13Phe)	DES (S13F)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GPathogenic
Select item 800731	NM_181458.4(PAX3):c.1076_1077del (p.Thr359fs)	LOC126806529, PAX3 (T359fs +1 more)	Deletion (frameshift variant)	Waardenburg syndrome type 1	GPathogenic
Select item 827652	NM_181458.4(PAX3):c.127G>T (p.Gly43Cys)	PAX3 (G43C)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GPathogenic
Select item 39831	NM_001277062.2(MFF):c.112C>T (p.Gln38Ter)	MFF (Q64* +1 more)	Single nucleotide variant (nonsense +1 more)	Global developmental delay +2 more	GPathogenic/Likely pathogenic
Select item 12281	NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)	UGT1A, UGT1A1 +8 more (Y486D +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome, type II +6 more	GPathogenic/Likely pathogenic
Select item 1698756	NM_001244008.2(KIF1A):c.2798C>T (p.Ala933Val)	KIF1A (A916V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 978946	NM_001080517.3(SETD5):c.1895G>T (p.Arg632Leu)	SETD5 (R534L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 8346	NM_000388.4(CASR):c.374T>C (p.Leu125Pro)	CASR (L125P)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 432253	NM_017644.3(KLHL24):c.1A>T (p.Met1Leu)	KLHL24 (M1L)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 5950	NM_003907.3(EIF2B5):c.944G>A (p.Arg315His)	EIF2B5 (R315H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 18274	NM_001354761.2(ADD1):c.1378G>T (p.Gly460Trp)	ADD1 (G460W)	Single nucleotide variant (missense variant)	hydrochlorothiazide response - Efficacy	Gdrug response
Select item 431175	NM_001331036.3(ELF2):c.10G>A (p.Ala4Thr)	ELF2 (A4T)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 17744	NM_000024.6(ADRB2):c.491C>T (p.Thr164Ile)	ADRB2 (T164I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 135650	NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys)	PDGFRB (R695C +2 more)	Single nucleotide variant (missense variant)	Cerebral palsy +5 more	GConflicting classifications of pathogenicity
Select item 522259	NM_001128164.2(ATXN1):c.2150C>T (p.Ala717Val)	ATXN1 (A717V)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 1 +1 more	GLikely benign
Select item 932128	NM_001128164.2(ATXN1):c.1804G>T (p.Ala602Ser)	ATXN1 (A602S)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 1	GUncertain significance
Select item 2688657	NM_001128164.2(ATXN1):c.1502C>T (p.Ala501Val)	ATXN1 (A501V)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 1	GUncertain significance
Select item 1678655	NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys)	ATXN1 (G258C)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 1 +1 more	GBenign/Likely benign
Select item 522332	NM_001128164.2(ATXN1):c.636GCA[16] (p.Gln224_Gln225dup)	ATXN1, LOC108663993	Microsatellite (inframe_insertion +1 more)	Spinocerebellar ataxia type 1	GBenign
Select item 3064693	NM_001128164.2(ATXN1):c.641_642insTCAGCA (p.Gln213_Gln214insHisGln)	ATXN1, LOC108663993	Insertion (inframe_insertion +1 more)	Spinocerebellar ataxia type 1	GUncertain significance
Select item 218439	NM_001128164.2(ATXN1):c.588GCA[14] (p.Gln208dup)	ATXN1, LOC108663993	Microsatellite (inframe_insertion +1 more)	not specified +1 more	GBenign/Likely benign
Select item 8071	NM_000332.4(ATXN1):c.589CAG[36_38] (p.Gln208[36_38])	ATXN1, LOC108663993	Microsatellite	Spinocerebellar ataxia type 1	GPathogenic
Select item 210502	NM_001128164.2(ATXN1):c.621G>T (p.Gln207His)	LOC108663993, ATXN1 (Q207H)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 1 +1 more	GConflicting classifications of pathogenicity
Select item 931497	NM_001128164.2(ATXN1):c.609G>T (p.Gln203His)	ATXN1, LOC108663993 (Q203H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1804154	NM_001470.4(GABBR1):c.2018G>A (p.Gly673Asp)	GABBR1 (G496D +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 1804152	NM_001470.4(GABBR1):c.1603G>A (p.Ala535Thr)	GABBR1 (A358T +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 1804147	NM_001470.4(GABBR1):c.1190C>T (p.Ala397Val)	GABBR1 (A220V +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language delay and variable cognitive abnormalities +5 more	GLikely pathogenic
Select item 1804153	NM_001470.4(GABBR1):c.1104G>C (p.Glu368Asp)	GABBR1 (E191D +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 50634	NM_000063.6(C2):c.841_849+19del	C2 (V281fs)	Deletion (frameshift variant +2 more)	Complement component 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1801327	NM_001281747.2(MLIP):c.2284C>T (p.Gln762Ter)	MLIP (Q762* +2 more)	Single nucleotide variant (nonsense)	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	GPathogenic
Select item 561980	NM_003931.3(WASF1):c.1516C>T (p.Arg506Ter)	WASF1 (R506*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with absent language and variable seizures +1 more	GPathogenic
Select item 424557	NM_000426.4(LAMA2):c.5866-1G>A	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 14024	NM_000905.4(NPY):c.20T>C (p.Leu7Pro)	NPY (L7P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 446530	NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys)	SAMD9L (R986C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 446529	NM_152703.5(SAMD9L):c.2672T>C (p.Ile891Thr)	SAMD9L (I891T)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome	GPathogenic
Select item 619194	NM_005868.6(BET1):c.202G>C (p.Asp68His)	BET1 (D68H)	Single nucleotide variant (missense variant +1 more)	Progressive muscle weakness +1 more	GUncertain significance
Select item 870465	NM_001375524.1(TRRAP):c.3128C>T (p.Ala1043Val)	TRRAP (A1043V)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GPathogenic
Select item 446459	NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly)	SLC26A4, SLC26A4-AS1 (S28G)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 446451	NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser)	SLC26A4 (P76S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 417623	NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg)	SLC26A4 (T99R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic; Affects
Select item 446452	NM_000441.2(SLC26A4):c.601-1G>A	SLC26A4	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 4840	NM_000441.2(SLC26A4):c.919-2A>G	SLC26A4	Single nucleotide variant (splice acceptor variant)	Pendred syndrome	GPathogenic FDA Recognized database
Select item 4823	NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val)	SLC26A4 (A372V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 446453	NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)	SLC26A4 (N392Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic
Select item 43496	NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	SLC26A4 (R409H)	Single nucleotide variant (missense variant)	not specified +5 more	GPathogenic/Likely pathogenic
Select item 43498	NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)	SLC26A4 (T410M)	Single nucleotide variant (missense variant)	Pendred syndrome	GPathogenic FDA Recognized database
Select item 446454	NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)	SLC26A4 (T527P)	Single nucleotide variant (missense variant)	Pendred syndrome +1 more	GPathogenic/Likely pathogenic
Select item 189160	NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)	SLC26A4 (I529S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 43516	NM_000441.2(SLC26A4):c.1614+1G>A	SLC26A4	Single nucleotide variant (splice donor variant)	Pendred syndrome +3 more	GPathogenic
Select item 446455	NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs)	SLC26A4 (S551fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 446456	NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)	SLC26A4 (Y556C)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 446457	NM_000441.2(SLC26A4):c.1707+5G>A	SLC26A4	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 446460	NM_000441.2(SLC26A4):c.1708-27_1708-11del	SLC26A4	Deletion (intron variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 188889	NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)	SLC26A4 (V659L)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
Select item 446461	NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu)	SLC26A4 (D669E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic/Likely pathogenic
Select item 446462	NM_000441.2(SLC26A4):c.2074T>C (p.Phe692Leu)	SLC26A4 (F692L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 446458	NM_000441.2(SLC26A4):c.2106_2110dup (p.Glu704fs)	SLC26A4, LOC123956210 (E704fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 4826	NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)	LOC123956210, SLC26A4 (T721M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GPathogenic
Select item 4825	NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	LOC123956210, SLC26A4 (H723R)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 371476	NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter)	SLC26A4 (L743*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 209139	NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)	CLCN1 (G190S)	Indel (missense variant +1 more)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 17741	NM_000025.3(ADRB3):c.190T>C (p.Trp64Arg)	ADRB3 (W64R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2034	NM_017780.4(CHD7):c.2442+5G>C	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GPathogenic
Select item 193915	NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe)	ARFGEF1-DT, CPA6 (L413F)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1339167	NM_006096.4(NDRG1):c.943+5G>A	NDRG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1339975	GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3	AGPAT5, ANGPT2 +64 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563536	GRCh37/hg19 8p23.1(chr8:8119295-11765719)x3	BLK, C8orf74 +20 more	Copy number gain	not provided	GPathogenic
Select item 14662	NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	INSL6, JAK2 (V617F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 2585481	NM_005866.4(SIGMAR1):c.446G>A (p.Gly149Glu)	SIGMAR1 (G118E +4 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive distal spinal muscular atrophy 2	GUncertain significance
Select item 4014	NM_017433.5(MYO3A):c.3129T>G (p.Tyr1043Ter)	MYO3A (Y1043*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 30	GPathogenic
Select item 1292053	NM_018245.3(OGDHL):c.2174A>T (p.Asn725Ile)	OGDHL (N326I +5 more)	Single nucleotide variant (missense variant +1 more)	Depression	GAffects
Select item 4928	NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)	CDH23 (P240L)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 402250	NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser)	CDH23 (P346S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GPathogenic/Likely pathogenic
Select item 446443	NM_022124.6(CDH23):c.1934A>G (p.Asp645Gly)	CDH23 (D645G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GPathogenic
Select item 444219	NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)	CDH23 (E956K)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GPathogenic FDA Recognized database
Select item 446444	NM_022124.6(CDH23):c.4877A>C (p.Asp1626Ala)	CDH23 (D1626A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GPathogenic
Select item 446445	NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro)	CDH23 (Q1716P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GPathogenic
Select item 619171	NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala)	CDH23 (D2028A)	Single nucleotide variant (missense variant)	Usher syndrome +1 more	GPathogenic/Likely pathogenic
Select item 446446	NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)	CDH23 (R2029W)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 446447	NM_022124.6(CDH23):c.6667del (p.Leu2223fs)	CDH23 (L2223fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 12	GPathogenic
Select item 446448	NM_022124.6(CDH23):c.6712+1G>A	CDH23	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 12	GPathogenic

<< First< Prev

Page of 25