ill health - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 638

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 455475	NM_000251.3(MSH2):c.1192G>A (p.Ala398Thr)	MSH2 (A398T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 893509	NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr)	NEB, RIF1 (I7968T +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 17202	NM_000090.4(COL3A1):c.1347+1G>A	COL3A1	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, type 4 +2 more	GPathogenic
Select item 8278	NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)	CAV3, OXTR (G56S)	Single nucleotide variant (missense variant)	Caveolinopathy +13 more	GBenign/Likely benign
Select item 8279	NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)	CAV3, OXTR (C72W)	Single nucleotide variant (missense variant)	Caveolinopathy +7 more	GConflicting classifications of pathogenicity
Select item 242463	NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)	ACAD9 (E413K)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1028248	NM_004453.4(ETFDH):c.405+3A>G	ETFDH	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 13735	NM_000446.7(PON1):c.575A>G (p.Gln192Arg)	PON1 (Q192R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3366625	NM_000108.5(DLD):c.586G>T (p.Asp196Tyr)	DLD (D148Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 35833	NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	CFTR (G622D)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 370440	NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)	VPS13B (R146*)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome +1 more	GPathogenic/Likely pathogenic
Select item 446748	NM_000518.4(HBB):c.[205C>T;20A>T]	HBB, LOC106099062 +1 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN JAMAICA PLAIN	Gother
Select item 229981	NM_000051.4(ATM):c.1363G>A (p.Val455Met)	ATM (V455M)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 13343	NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)	PTPN11 (G464A +2 more)	Single nucleotide variant (missense variant)	RASopathy +6 more	GPathogenic
Select item 40562	NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	PTPN11 (M504V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 190772	NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)	HCN4 (V759I)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +5 more	GConflicting classifications of pathogenicity
Select item 218094	NM_002435.3(MPI):c.1205A>G (p.Glu402Gly)	MPI (E402G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GPathogenic
Select item 218095	NM_002435.3(MPI):c.1253G>A (p.Arg418His)	MPI (R418H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 441376	NM_007294.4(BRCA1):c.548G>T (p.Gly183Val)	BRCA1 (G183V +11 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +3 more	GUncertain significance
Select item 1686668	NM_005993.4(TBCD):c.1150_1171del	TBCD	Deletion	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +2 more	GPathogenic/Likely pathogenic
Select item 13417	NM_000371.4(TTR):c.148G>A (p.Val50Met)	TTR (V50M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +6 more	GPathogenic
Select item 3085	NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)	ARSA (R392W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 516756	NM_000531.6(OTC):c.-366A>G	OTC	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 380178	NM_000531.6(OTC):c.-365G>A	OTC	Single nucleotide variant	not specified	GBenign
Select item 516401	NM_000531.6(OTC):c.-359G>A	OTC	Single nucleotide variant	not specified	GBenign
Select item 487480	NM_000531.5(OTC):c.-157T>G	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 3071198	NC_000023.11:g.38352554T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 487342	NC_000023.11:g.38352555G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487341	NM_000531.5(OTC):c.-139A>G	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487343	NM_000531.5(OTC):c.-116C>T	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 487344	NM_000531.5(OTC):c.-115C>T	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487338	NC_000023.11:g.38352591C>A	OTC	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 368256	NM_000531.6(OTC):c.-48G>T	OTC	Single nucleotide variant (5 prime UTR variant)	Ornithine carbamoyltransferase deficiency +1 more	GBenign/Likely benign
Select item 3074790	NM_000531.6(OTC):c.-5A>C	OTC	Single nucleotide variant (5 prime UTR variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 97164	NM_000531.6(OTC):c.2T>C (p.Met1Thr)	OTC (M1T)	Single nucleotide variant (missense variant +1 more)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 97189	NM_000531.6(OTC):c.3G>A (p.Met1Ile)	OTC (M1I)	Single nucleotide variant (missense variant +1 more)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 2134006	NM_000531.6(OTC):c.4C>T (p.Leu2=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2727469	NM_000531.6(OTC):c.6G>A (p.Leu2=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 751962	NM_000531.6(OTC):c.6G>C (p.Leu2=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2092888	NM_000531.6(OTC):c.10A>G (p.Asn4Asp)	OTC (N4D)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3242091	NM_000531.6(OTC):c.17G>A (p.Arg6Lys)	OTC (R6K)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1099845	NM_000531.6(OTC):c.25T>C (p.Leu9=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 97157	NM_000531.6(OTC):c.29_32del (p.Asn10fs)	OTC (N10fs)	Deletion (frameshift variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 2756484	NM_000531.6(OTC):c.30C>T (p.Asn10=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2162857	NM_000531.6(OTC):c.32A>G (p.Asn11Ser)	OTC (N11S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1561820	NM_000531.6(OTC):c.33T>C (p.Asn11=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1726983	NM_000531.6(OTC):c.50_53del (p.Gly17fs)	OTC (G17fs)	Deletion (frameshift variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 2434521	NM_000531.6(OTC):c.52C>A (p.His18Asn)	OTC (H18N)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1487158	NM_000531.6(OTC):c.54C>A (p.His18Gln)	OTC (H18Q)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1161103	NM_000531.6(OTC):c.54C>T (p.His18=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1585673	NM_000531.6(OTC):c.61A>G (p.Met21Val)	OTC (M21V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2636234	NM_000531.6(OTC):c.62T>C (p.Met21Thr)	OTC (M21T)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1127252	NM_000531.6(OTC):c.66T>C (p.Val22=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 97292	NM_000531.6(OTC):c.67C>T (p.Arg23Ter)	OTC (R23*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1595975	NM_000531.6(OTC):c.68G>A (p.Arg23Gln)	OTC (R23Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 217299	NM_000531.6(OTC):c.72_77+18del	OTC	Deletion (splice donor variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 368257	NM_000531.6(OTC):c.76C>T (p.Arg26Trp)	OTC (R26W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1685390	NM_000531.6(OTC):c.77G>T (p.Arg26Leu)	OTC (R26L)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 10993	NM_000531.6(OTC):c.77G>A (p.Arg26Gln)	OTC (R26Q)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 567293	NM_000531.6(OTC):c.77+2dup	OTC	Duplication (splice donor variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 97313	NM_000531.6(OTC):c.77+1G>A	OTC	Single nucleotide variant (splice donor variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 870325	NM_000531.6(OTC):c.77+5G>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 97317	NM_000531.6(OTC):c.77+5G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1589438	NM_000531.6(OTC):c.77+7G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1552554	NM_000531.6(OTC):c.77+8A>G	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2964117	NM_000531.6(OTC):c.77+11G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2756534	NM_000531.6(OTC):c.77+20T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1599228	NM_000531.6(OTC):c.77+3054A>G	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GBenign
Select item 2725095	NM_000531.6(OTC):c.78-13T>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2878797	NM_000531.6(OTC):c.78-12C>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3074720	NM_000531.6(OTC):c.78-10C>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2763082	NM_000531.6(OTC):c.78-5T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2582607	NM_000531.6(OTC):c.78-2A>G	OTC	Single nucleotide variant (splice acceptor variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 1469574	NM_000531.6(OTC):c.78-1G>T	OTC	Single nucleotide variant (splice acceptor variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 3072519	NM_000531.6(OTC):c.78G>T (p.Arg26=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1580686	NM_000531.6(OTC):c.81T>C (p.Cys27=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 852531	NM_000531.6(OTC):c.83G>A (p.Gly28Glu)	OTC (G28E)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 972786	NM_000531.6(OTC):c.85C>G (p.Gln29Glu)	OTC (Q29E)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1917235	NM_000531.6(OTC):c.88C>T (p.Pro30Ser)	OTC (P30S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1466747	NM_000531.6(OTC):c.89C>A (p.Pro30Gln)	OTC (P30Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2979143	NM_000531.6(OTC):c.92T>C (p.Leu31Pro)	OTC (L31P)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 2129371	NM_000531.6(OTC):c.93A>G (p.Leu31=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 765991	NM_000531.6(OTC):c.105G>A (p.Val35=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 384579	NM_000531.6(OTC):c.114G>A (p.Lys38=)	OTC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3238734	NM_000531.6(OTC):c.116G>T (p.Gly39Val)	OTC (G39V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 915469	NM_000531.6(OTC):c.116G>C (p.Gly39Ala)	OTC (G39A)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 654598	NM_000531.6(OTC):c.116G>A (p.Gly39Asp)	OTC (G39D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 11013	NM_000531.6(OTC):c.118C>T (p.Arg40Cys)	OTC (R40C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2737202	NM_000531.6(OTC):c.119G>T (p.Arg40Leu)	OTC (R40L)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 11014	NM_000531.6(OTC):c.119G>A (p.Arg40His)	OTC (R40H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 97107	NM_000531.6(OTC):c.122A>G (p.Asp41Gly)	OTC (D41G)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 1720979	NM_000531.6(OTC):c.125_126delinsAC (p.Leu42His)	OTC (L42H)	Indel (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1707591	NM_000531.6(OTC):c.125T>A (p.Leu42His)	OTC (L42H)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1348491	NM_000531.6(OTC):c.127C>A (p.Leu43Ile)	OTC (L43I)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +2 more	GUncertain significance
Select item 933230	NM_000531.6(OTC):c.128T>C (p.Leu43Pro)	OTC (L43P)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 97109	NM_000531.6(OTC):c.131C>T (p.Thr44Ile)	OTC (T44I)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 2743496	NM_000531.6(OTC):c.132T>C (p.Thr44=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2128932	NM_000531.6(OTC):c.134T>G (p.Leu45Arg)	OTC (L45R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 10992	NM_000531.6(OTC):c.134T>C (p.Leu45Pro)	OTC (L45P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

<< First< Prev

Page of 7