meconium nitiduloides - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 4815

<< First< Prev

Page of 49

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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521444	NM_001253852.3(AP4B1):c.1345A>T (p.Arg449Ter)	AP4B1, AP4B1-AS1 (R449* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 156414	NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)	AP4B1, AP4B1-AS1 (T219fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2584921	NM_001253852.3(AP4B1):c.1066del (p.Cys356fs)	AP4B1, AP4B1-AS1 (C257fs +2 more)	Deletion (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely pathogenic
Select item 14498	NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)	LMNA (R298C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +5 more	GConflicting classifications of pathogenicity
Select item 1675085	NM_001136219.3(FCGR2A):c.497C>T (p.Ser166Phe)	FCGR2A (S165F +1 more)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus +2 more	GUncertain significance
Select item 1675086	NM_001136219.3(FCGR2A):c.780+1G>A	FCGR2A	Single nucleotide variant (splice donor variant)	not provided +3 more	GUncertain significance
Select item 16604	NM_001136018.4(EPHX1):c.337T>C (p.Tyr113His)	EPHX1 (Y113H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 280481	NM_145861.4(EDARADD):c.196C>T (p.Arg66Ter)	EDARADD (R66* +2 more)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +1 more	GPathogenic
Select item 443880	GRCh37/hg19 1p36.23(chr1:7394507-7638032)x1	CAMTA1	Copy number loss	See cases	GLikely pathogenic
Select item 373283	NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)	SCN2A (T400R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +2 more	GConflicting classifications of pathogenicity
Select item 984817	NM_001040142.2(SCN2A):c.2894T>G (p.Met965Arg)	SCN2A (M965R)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GLikely pathogenic
Select item 984814	NM_001040142.2(SCN2A):c.4406_4409delinsATGT (p.Ile1469_Gly1470delinsAsnVal)	SCN2A	Indel (missense variant)	Complex neurodevelopmental disorder	GPathogenic
Select item 207078	NM_001040142.2(SCN2A):c.4610_4614delinsGCATC (p.Ile1537_Met1538delinsSerIle)	SCN2A	Indel (missense variant)	not specified	GUncertain significance
Select item 548699	NM_001040142.2(SCN2A):c.4801G>T (p.Val1601Leu)	SCN2A (V1601L)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GLikely pathogenic
Select item 207019	NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)	SCN2A (R1629H)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +3 more	GPathogenic/Likely pathogenic
Select item 380389	NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln)	SCN2A (R1635Q)	Single nucleotide variant (missense variant)	Developmental disorder +4 more	GPathogenic/Likely pathogenic
Select item 419634	NM_001040142.2(SCN2A):c.5272A>C (p.Ser1758Arg)	SCN2A (S1758R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 521305	NM_001165963.4(SCN1A):c.3292del (p.Asp1098fs)	LOC102724058, SCN1A (D1098fs +5 more)	Deletion (non-coding transcript variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 689379	NM_014168.4(METTL5):c.344_345del (p.Arg115fs)	METTL5 (R115fs)	Deletion (frameshift variant)	Intellectual disability, severe +1 more	GPathogenic
Select item 522807	NM_001348323.3(TRIP12):c.1279del (p.Ser427fs)	TRIP12 (S385fs +3 more)	Deletion (frameshift variant +1 more)	TRIP12 associated autism with facial dysmorphology	GPathogenic
Select item 521233	NM_001244008.2(KIF1A):c.799G>A (p.Glu267Lys)	KIF1A (E267K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GPathogenic/Likely pathogenic
Select item 2584806	NM_021971.4(GMPPB):c.297G>C (p.Glu99Asp)	GMPPB (E99D)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T	GUncertain significance
Select item 217264	NM_001349338.3(FOXP1):c.1393A>G (p.Arg465Gly)	FOXP1 (R465G +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome +1 more	GPathogenic/Likely pathogenic
Select item 475412	NM_005908.4(MANBA):c.2282G>C (p.Cys761Ser)	MANBA (C761S)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis	GUncertain significance
Select item 148788	GRCh38/hg38 4q32.2(chr4:161023948-161797952)x1	FSTL5, LOC121725193 +11 more	Copy number loss	See cases	GUncertain significance
Select item 205541	NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)	GABRG2 (A106T +4 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +4 more	GPathogenic/Likely pathogenic
Select item 10	NM_000410.4(HFE):c.187C>G (p.His63Asp)	HFE, HFE-AS1 (H63D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Cardiomyopathy +9 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
Select item 190286	NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	MEA1, PPP2R5D (E198K +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +6 more	GPathogenic
Select item 420814	NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val)	PPP2R5D (D251V +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 357733	NM_001142800.2(EYS):c.2027C>T (p.Thr676Met)	EYS (T676M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 638583	NM_017934.7(PHIP):c.3656+1242A>T	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 422837	NM_006734.4(HIVEP2):c.5900del (p.Ser1967fs)	HIVEP2 (S1967fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 804213	NM_000301.5(PLG):c.712G>A (p.Asp238Asn)	PLG (D238N)	Single nucleotide variant (missense variant)	Cystic fibrosis	Grisk factor
Select item 1331053	NM_001282426.2(PIK3CG):c.1076G>A (p.Arg359His)	PIK3CG (R359H)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 2430331	NM_001282426.2(PIK3CG):c.2496T>G (p.Phe832Leu)	PIK3CG (F832L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1313755	NC_000007.14:g.117478787A>G	CFTR, LOC111674463	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1144671	NM_000492.3(CFTR):c.-1043dup	CFTR, LOC111674463	Duplication	Hereditary pancreatitis +2 more	GConflicting classifications of pathogenicity
Select item 818101	NG_016465.4:g.18346T>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GBenign
Select item 990530	NM_000492.4(CFTR):c.-939A>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 557329	NM_000492.3(CFTR):c.-893_-891del	LOC111674463, CFTR	Deletion	Cystic fibrosis	GUncertain significance
Select item 1535894	NM_000492.3(CFTR):c.-887_-885del	CFTR, LOC111674463	Microsatellite	Cystic fibrosis	GLikely benign
Select item 51027	NM_000492.4(CFTR):c.-887C>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis +3 more	GBenign/Likely benign
Select item 1164542	NC_000007.14:g.117479234del	CFTR, LOC111674463	Deletion	Cystic fibrosis	GBenign
Select item 558519	NM_000492.3(CFTR):c.-837T>C	LOC111674463, CFTR	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 51029	NM_000492.4(CFTR):c.-812T>G	CFTR, LOC111674463	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3076103	NM_000492.3(CFTR):c.-752A>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076102	NM_000492.3(CFTR):c.-687T>C	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 550903	NM_000492.3(CFTR):c.-674T>C	LOC111674463, CFTR	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 557109	NM_000492.3(CFTR):c.-600dup	LOC111674463, CFTR	Duplication	Cystic fibrosis	GUncertain significance
Select item 553817	NM_000492.4(CFTR):c.-602A>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076101	NM_000492.3(CFTR):c.-566A>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076100	NM_000492.3(CFTR):c.-551T>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076099	NM_000492.3(CFTR):c.-548C>A	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076098	NM_000492.3(CFTR):c.-545A>C	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076097	NM_000492.3(CFTR):c.-536C>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076096	NM_000492.3(CFTR):c.-518G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 1745530	NM_000492.3(CFTR):c.-512C>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GLikely benign
Select item 1745194	NM_000492.3(CFTR):c.-507A>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GLikely benign
Select item 51030	NC_000007.14:g.117479600C>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 189027	NC_000007.14:g.117479634A>G	LOC111674463, CFTR	Single nucleotide variant	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 439085	NC_000007.14:g.117479647A>G	CFTR, LOC111674463	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
Select item 990531	NM_000492.4(CFTR):c.-439G>A	LOC111674463, CFTR	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 237853	NC_000007.14:g.117479807G>C	CFTR, LOC111674463	Single nucleotide variant	not specified +3 more	GBenign/Likely benign
Select item 1132414	NM_000492.4(CFTR):c.-234T>A	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 1789708	NM_000492.3(CFTR):c.-232G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GLikely benign
Select item 51031	NM_000492.4(CFTR):c.-226G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 3076095	NM_000492.3(CFTR):c.-198G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 2198064	NC_000007.14:g.117479900C>A	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076094	NM_000492.3(CFTR):c.-184G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076093	NM_000492.3(CFTR):c.-183G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 439059	NC_000007.14:g.117479930G>A	CFTR, LOC111674463	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 597979	NM_000492.3(CFTR):c.-152G>C	CFTR, LOC111674463	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 3076092	NM_000492.3(CFTR):c.-148A>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076091	NM_000492.3(CFTR):c.-146G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 2681864	NM_000492.3(CFTR):c.-116C>T	CFTR, LOC111674463	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 3076090	NM_000492.3(CFTR):c.-106G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 7226	NM_000492.3(CFTR):c.-102A=	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GPathogenic
Select item 818099	NM_000492.3(CFTR):c.-85C>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GBenign
Select item 552672	NM_000492.4(CFTR):c.-34C>T	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 2413278	NM_000492.4(CFTR):c.-13C>A	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	Cystic fibrosis	GUncertain significance
Select item 53158	NM_000492.4(CFTR):c.-9_14del (p.Met1fs)	CFTR, LOC111674463 (M1fs)	Deletion (frameshift variant +1 more)	Cystic fibrosis	GPathogenic
Select item 1650184	NM_000492.4(CFTR):c.-11C>T	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	Cystic fibrosis	GLikely benign
Select item 556329	NM_000492.4(CFTR):c.-8GA[4]	CFTR, LOC111674463	Microsatellite (5 prime UTR variant)	Cystic fibrosis	GUncertain significance
Select item 1379956	NM_000492.4(CFTR):c.-8G>A	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	Cystic fibrosis	GUncertain significance
Select item 93148	NM_000492.4(CFTR):c.-8G>C	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 2169688	NM_000492.4(CFTR):c.-7A>T	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	Cystic fibrosis	GUncertain significance
Select item 53157	NM_000492.4(CFTR):c.-4G>C	CFTR, LOC111674463	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 1350266	NM_000492.4(CFTR):c.-2C>T	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	Cystic fibrosis	GUncertain significance
Select item 2447395	NM_000492.4(CFTR):c.-1C>G	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	Cystic fibrosis	GUncertain significance
Select item 53423	NM_000492.4(CFTR):c.1A>G (p.Met1Val)	CFTR (M1V)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis	GPathogenic
Select item 618930	NM_000492.4(CFTR):c.2T>G (p.Met1Arg)	CFTR (M1R)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis	GPathogenic
Select item 53622	NM_000492.4(CFTR):c.2T>C (p.Met1Thr)	CFTR (M1T)	Single nucleotide variant (missense variant +1 more)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GPathogenic/Likely pathogenic
Select item 53621	NM_000492.4(CFTR):c.2T>A (p.Met1Lys)	CFTR (M1K)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis	GPathogenic
Select item 53870	NM_000492.4(CFTR):c.3G>T (p.Met1Ile)	CFTR (M1I)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis	Gnot provided
Select item 53869	NM_000492.4(CFTR):c.3G>A (p.Met1Ile)	CFTR (M1I)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis	GPathogenic
Select item 1320029	NM_000492.4(CFTR):c.[4C>T;7A>T]	CFTR (Q2* +1 more)	Single nucleotide variant (nonsense +1 more)	Cystic fibrosis	GPathogenic
Select item 618918	NM_000492.4(CFTR):c.4del (p.Gln2fs)	CFTR (Q2fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53981	NM_000492.3(CFTR):c.4_53+69del119ins299	CFTR	Indel	Cystic fibrosis	Gnot provided
Select item 53980	NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)	CFTR (Q2*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 987858	NM_000492.4(CFTR):c.5A>C (p.Gln2Pro)	CFTR (Q2P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

<< First< Prev

Page of 49