gomez chapadensis - ClinVar - NCBI

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The following term was not found in ClinVar: chapadensis.
Showing results for Gomesa chapadensis. Your search for Gomesa chapadensis retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 626168	NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)	SKI (A579T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1050789	NM_022787.4(NMNAT1):c.299+526_*968dup	NMNAT1	Duplication (splice acceptor variant +1 more)	Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis +1 more	GPathogenic
Select item 1050790	NM_022787.4(NMNAT1):c.439+5G>T	NMNAT1	Single nucleotide variant (intron variant)	Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis	GPathogenic
Select item 41753	NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)	MUTYH (R426C +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity
Select item 187318	NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp)	MUTYH (R184W +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 519484	NM_001378969.1(KCND3):c.1292G>A (p.Arg431His)	KCND3 (R431H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +3 more	GConflicting classifications of pathogenicity
Select item 974986	NM_000157.4(GBA1):c.108G>A (p.Trp36Ter)	GBA1 (W36*)	Single nucleotide variant (nonsense +1 more)	Gaucher disease	GPathogenic
Select item 2445963	NM_021023.6(CFHR3):c.796+1G>A	CFHR3	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 279752	NM_030787.4(CFHR5):c.622T>C (p.Cys208Arg)	CFHR5 (C208R)	Single nucleotide variant (missense variant)	Chronic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 434252	NM_000384.3(APOB):c.10238del (p.Thr3413fs)	APOB (T3413fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 96720	NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)	CALM2 (N98S +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GPathogenic
Select item 183233	NM_001743.6(CALM2):c.287A>T (p.Asp96Val)	CALM2 (D96V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GPathogenic
Select item 263465	NM_000090.4(COL3A1):c.2607T>A (p.Pro869=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 18363	NM_000751.3(CHRND):c.866C>T (p.Ser289Phe)	CHRND (S289F +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GLikely pathogenic
Select item 14063	NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)	MYL3 (E143K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 1404283	NM_000094.4(COL7A1):c.5108G>A (p.Gly1703Glu)	COL7A1 (G1703E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 372583	NM_006005.3(WFS1):c.376G>A (p.Ala126Thr)	WFS1 (A126T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4519	NM_006005.3(WFS1):c.409_424dup (p.Val142fs)	WFS1 (V142fs)	Duplication (frameshift variant)	Wolfram syndrome +4 more	GPathogenic/Likely pathogenic
Select item 228420	NM_006005.3(WFS1):c.1060_1062del (p.Phe354del)	WFS1 (F354del)	Deletion (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 215394	NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)	WFS1 (G674R)	Single nucleotide variant (missense variant)	Wolfram-like syndrome +6 more	GConflicting classifications of pathogenicity
Select item 143132	NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys)	WFS1 (E737K)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 219985	NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)	PKD2 (M800L)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 11891	NM_000128.4(F11):c.403G>T (p.Glu135Ter)	F11 (E135*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 558077	NM_000521.4(HEXB):c.1242G>A (p.Lys414=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease	GPathogenic/Likely pathogenic
Select item 3878	NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	HEXB (P417L +1 more)	Single nucleotide variant (missense variant)	Sandhoff disease +3 more	GPathogenic/Likely pathogenic
Select item 141368	NM_000038.6(APC):c.147_150del (p.Lys49fs)	APC (K59fs +2 more)	Deletion (frameshift variant +1 more)	Classic or attenuated familial adenomatous polyposis +4 more	GPathogenic
Select item 127312	NM_000038.6(APC):c.646C>T (p.Arg216Ter)	APC (R216* +3 more)	Single nucleotide variant (nonsense +2 more)	Desmoid disease, hereditary +9 more	GPathogenic OOncogenic
Select item 184937	NM_000038.6(APC):c.994C>T (p.Arg332Ter)	APC (R314* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided +9 more	GPathogenic
Select item 433646	NM_000038.6(APC):c.3467_3470del (p.Glu1156fs)	APC (E1030fs +12 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 469930	NM_000038.6(APC):c.3631_3632del (p.Met1211fs)	APC (M1170fs +12 more)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 4092	NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)	SLC26A2 (R178*)	Single nucleotide variant (nonsense)	Diastrophic dysplasia +7 more	GPathogenic
Select item 4089	NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	SLC26A2 (R279W)	Single nucleotide variant (missense variant)	not specified +10 more	GPathogenic/Likely pathogenic
Select item 1704635	NC_000005.9:g.(112103088_112111325)_(112111435_112116486)del	APC	Deletion	Familial multiple polyposis syndrome	GPathogenic
Select item 16533	NM_000129.4(F13A1):c.980G>A (p.Arg327Gln)	F13A1 (R327Q)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of +1 more	GPathogenic/Likely pathogenic
Select item 16534	NM_000129.4(F13A1):c.949G>T (p.Val317Phe)	F13A1 (V317F)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GPathogenic
Select item 2592	NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala)	NHLRC1 (D308A)	Single nucleotide variant (missense variant)	Myoclonic epilepsy of Lafora 2	GPathogenic
Select item 2590	NM_198586.3(NHLRC1):c.793C>T (p.Arg265Ter)	NHLRC1 (R265*)	Single nucleotide variant (nonsense)	Myoclonic epilepsy of Lafora 2	GPathogenic
Select item 206191	NM_198586.3(NHLRC1):c.791C>G (p.Pro264Arg)	NHLRC1 (P264R)	Single nucleotide variant (missense variant)	Lafora disease +1 more	GUncertain significance
Select item 546091	NM_198586.3(NHLRC1):c.656G>A (p.Trp219Ter)	NHLRC1 (W219*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2591	NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn)	NHLRC1 (I198N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2587	NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala)	NHLRC1 (P69A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 226424	NM_016614.3(TDP2):c.425+1G>A	TDP2	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia, autosomal recessive 23	GPathogenic
Select item 226425	NM_016614.3(TDP2):c.413_414delinsAA (p.Ser138Ter)	TDP2 (S138*)	Indel (nonsense)	Spinocerebellar ataxia, autosomal recessive 23	GPathogenic
Select item 14	NM_000410.4(HFE):c.892+48G>A	HFE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 425377	NM_006772.3(SYNGAP1):c.663+1G>A	SYNGAP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 411566	NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs)	SYNGAP1, SYNGAP1-AS1 (G391fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 536991	NM_006772.3(SYNGAP1):c.3233_3236del (p.Val1078fs)	SYNGAP1, SYNGAP1-AS1 (V1064fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 225077	NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter)	SYNGAP1, SYNGAP1-AS1 (R1240* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 5 +2 more	GPathogenic
Select item 3098	NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)	EPM2A (R241* +3 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 35893	NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)	CFTR (R31C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +6 more	GConflicting classifications of pathogenicity
Select item 54087	NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)	CFTR (R31L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 53403	NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)	CFTR (D614G)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GPathogenic/Likely pathogenic
Select item 7229	NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	CFTR, LOC111674472 (L997F)	Single nucleotide variant (missense variant)	Obstructive azoospermia +4 more	GConflicting classifications of pathogenicity
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 209056	NM_000492.4(CFTR):c.3747del (p.Lys1250fs)	CFTR (K1250fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 471966	NM_001458.5(FLNC):c.1261C>T (p.Arg421Trp)	FLNC (R421W)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GConflicting classifications of pathogenicity
Select item 471978	NM_001458.5(FLNC):c.1474A>G (p.Lys492Glu)	FLNC (K492E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +7 more	GConflicting classifications of pathogenicity
Select item 539421	NM_001458.5(FLNC):c.3304C>T (p.Pro1102Ser)	FLNC (P1102S)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 576780	NM_001458.5(FLNC):c.3799C>T (p.Arg1267Trp)	FLNC (R1267W)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GConflicting classifications of pathogenicity
Select item 472074	NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser)	FLNC (G1546S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GConflicting classifications of pathogenicity
Select item 1372469	NM_001458.5(FLNC):c.5042C>T (p.Thr1681Met)	FLNC (T1681M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 197502	NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)	FLNC, FLNC-AS1 (A2430V +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 569138	NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter)	HGSNAT (R203*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-C +2 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 209159	NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg)	GRIN1 (G620R +1 more)	Single nucleotide variant (missense variant)	Seizure +3 more	GPathogenic/Likely pathogenic
Select item 658023	NM_007327.4(GRIN1):c.2414C>T (p.Pro805Leu)	GRIN1 (P805L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 430634	NM_000235.4(LIPA):c.894G>C (p.Gln298His)	LIPA (Q298H +1 more)	Single nucleotide variant (missense variant)	Wolman disease +1 more	GPathogenic/Likely pathogenic
Select item 13134	NM_000536.4(RAG2):c.817_819del (p.Ile273del)	RAG2 (I273del)	Deletion (inframe_deletion)	Severe combined immunodeficiency, B cell-negative	GPathogenic
Select item 13133	NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)	RAG2 (G95R)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
Select item 42739	NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg)	MYBPC3 (G1248R)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 519052	NM_000256.3(MYBPC3):c.3463A>G (p.Lys1155Glu)	MYBPC3 (K1155E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 575705	NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)	MYBPC3 (R726C)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 42754	NM_000256.3(MYBPC3):c.451G>A (p.Asp151Asn)	MYBPC3 (D151N)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 161305	NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)	MYBPC3 (G5R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 407579	NM_000051.4(ATM):c.2495G>T (p.Arg832Leu)	ATM (R832L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2630296	NM_000834.5(GRIN2B):c.2806G>T (p.Glu936Ter)	GRIN2B (E936*)	Single nucleotide variant (nonsense)	GRIN2B-related disorder	GLikely pathogenic
Select item 219163	NG_029843.1:g.23704_55438del	NR1H4	Deletion	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 219162	NM_001206979.2(NR1H4):c.419_420insAAA (p.Tyr139_Asn140insLys)	NR1H4	Insertion (inframe_insertion +1 more)	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 219164	NM_001206979.2(NR1H4):c.526C>T (p.Arg176Ter)	NR1H4 (R176* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 181419	NM_000432.4(MYL2):c.274+16_274+17insTC	MYL2	Insertion (intron variant)	not provided +2 more	GBenign
Select item 40549	NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)	PTPN11 (P491T +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 37738	NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)	BRCA2 (E462G)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51432	NM_000059.4(BRCA2):c.3254A>G (p.His1085Arg)	BRCA2 (H1085R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 38037	NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)	BRCA2 (R2108H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52248	NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)	BRCA2 (T2337I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GUncertain significance
Select item 52458	NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp)	BRCA2 (Y2660D)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 38155	NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)	BRCA2 (R2784W)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GPathogenic/Likely pathogenic
Select item 52559	NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)	BRCA2 (R2784Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 91732	NM_000059.4(BRCA2):c.8662C>T (p.Arg2888Cys)	BRCA2 (R2888C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38217	NM_000059.4(BRCA2):c.9155G>A (p.Arg3052Gln)	BRCA2 (R3052Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3345964	NM_019616.4(F7):c.464G>A (p.Gly155Glu)	F7 (G155E +2 more)	Single nucleotide variant (missense variant +1 more)	F7-related disorder	GUncertain significance
Select item 487639	NM_000257.4(MYH7):c.5779A>T (p.Ile1927Phe)	MYH7 (I1927F)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 217826	NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp)	MYH7 (R1818W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +9 more	GUncertain significance
Select item 519115	NM_000257.4(MYH7):c.5066G>A (p.Arg1689His)	LOC126861897, MHRT +1 more (R1689H)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +9 more	GUncertain significance
Select item 43012	NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)	MHRT, MYH7 (K1459N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 195720	NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn)	MYH7 (T1019N)	Single nucleotide variant (missense variant)	MYH7-related skeletal myopathy +8 more	GUncertain significance
Select item 161327	NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys)	LOC126861898, MYH7 (R787C)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 42885	NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly)	MYH7 (R723G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 43006	NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)	MYH7 (R143Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 380650	NM_000257.4(MYH7):c.11C>T (p.Ser4Leu)	MYH7 (S4L)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance

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