Limonium carvalho - ClinVar - NCBI

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The following term was not found in ClinVar: Limonium.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 459169	NM_003000.3(SDHB):c.739A>G (p.Met247Val)	SDHB (M247V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 29802	NM_002506.3(NGF):c.680_682delinsA (p.Thr227fs)	NGF, NGF-AS1 (T227fs)	Indel (frameshift variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GPathogenic
Select item 14045	NM_002506.3(NGF):c.661C>T (p.Arg221Trp)	NGF, NGF-AS1 (R221W)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 239839	NM_004304.5(ALK):c.4570AAG[1] (p.Lys1525del)	ALK (K1525del +1 more)	Microsatellite (inframe_deletion)	Neuroblastoma, susceptibility to, 3 +2 more	GConflicting classifications of pathogenicity
Select item 90719	NM_000251.3(MSH2):c.1661+1G>A	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 812523	NM_022168.4(IFIH1):c.992C>T (p.Thr331Ile)	IFIH1 (T331I)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GPathogenic
Select item 812522	NM_022168.4(IFIH1):c.992C>G (p.Thr331Arg)	IFIH1 (T331R)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GPathogenic
Select item 898013	NM_020919.4(ALS2):c.4957C>T (p.Arg1653Cys)	ALS2 (R1653C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 187034	NM_000465.4(BARD1):c.1268A>G (p.Lys423Arg)	BARD1 (K423R +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 245891	NM_000465.4(BARD1):c.764A>G (p.Asn255Ser)	BARD1 (N255S +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
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 902056	NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu)	FANCD2, LOC107303338 (P727L +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +2 more	GConflicting classifications of pathogenicity
Select item 156006	NM_001370658.1(BTD):c.250-15del	BTD	Deletion (intron variant)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 24999	NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	BTD (G94V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 25029	NM_001370658.1(BTD):c.572G>A (p.Arg191His)	BTD (R191H)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 975025	NM_001370658.1(BTD):c.1021T>G (p.Phe341Val)	BTD (F341V)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 554671	NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys)	BTD (Y474C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1897	NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	BTD (T512M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 975026	NM_001370658.1(BTD):c.1541C>T (p.Ala514Val)	BTD (A514V)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 492921	NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys)	THRB (R438C +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 232603	NM_000249.4(MLH1):c.306G>A (p.Glu102=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome 1	GUncertain significance
Select item 7695	NM_003865.3(HESX1):c.77T>C (p.Ile26Thr)	HESX1 (I26T)	Single nucleotide variant (missense variant)	PITUITARY HORMONE DEFICIENCY, COMBINED, 5	GPathogenic
Select item 848865	NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)	GBE1 (N541D)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +1 more	GPathogenic/Likely pathogenic
Select item 139449	NM_001348800.3(ZBTB20):c.1861C>T (p.Leu621Phe)	ZBTB20 (L621F +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 65611	NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)	CYP21A2, LOC106780800 (L173fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 2627163	NM_000500.9(CYP21A2):c.1298C>T (p.Pro433Leu)	CYP21A2, LOC106780800 (P298L +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 2393	NM_000045.4(ARG1):c.32T>C (p.Ile11Thr)	ARG1 (I11T)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 802268	NM_000045.4(ARG1):c.404C>T (p.Thr135Ile)	ARG1, MED23 (T135I +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 550679	NM_000045.4(ARG1):c.923G>A (p.Arg308Gln)	ARG1, MED23 (R308Q +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic
Select item 140758	NM_000535.7(PMS2):c.2374G>A (p.Asp792Asn)	PMS2 (D792N +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 41710	NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr)	PMS2 (I755T +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +3 more	GUncertain significance
Select item 219289	NM_016038.4(SBDS):c.98A>C (p.Lys33Thr)	SBDS (K33T)	Single nucleotide variant (missense variant)	Aplastic anemia +1 more	GPathogenic/Likely pathogenic
Select item 4838	NC_000007.14:g.107660756T>C	SLC26A4, SLC26A4-AS1	Single nucleotide variant	Pendred syndrome	GUncertain significance FDA Recognized database
Select item 1065085	NM_000441.2(SLC26A4):c.1146C>G (p.Asn382Lys)	SLC26A4 (N382K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 221224	NC_000007.13:g.147518609_147807856del	CNTNAP2, LOC129999529 +1 more	Deletion	Schizoaffective disorder, depressive type	GLikely pathogenic
Select item 6940	NM_002485.5(NBN):c.657_661del (p.Lys219fs)	NBN (K137fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic
Select item 406976	NM_004260.4(RECQL4):c.3055+5G>A	RECQL4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 483325	NM_000077.5(CDKN2A):c.170C>A (p.Ala57Asp)	CDKN2A (A57D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 411286	NM_000368.5(TSC1):c.625A>G (p.Met209Val)	TSC1 (M209V +2 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GBenign/Likely benign
Select item 933351	NM_005609.4(PYGM):c.527A>C (p.Gln176Pro)	PYGM (Q176P +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GUncertain significance
Select item 16688	NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter)	MEN1 (R527* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 16699	NM_001370259.2(MEN1):c.415C>G (p.His139Asp)	MEN1 (H139D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1032379	NM_001370259.2(MEN1):c.-6G>A	MEN1	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 187606	NM_000051.4(ATM):c.4306C>T (p.His1436Tyr)	ATM (H1436Y)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2978647	NM_001351132.2(PEX5):c.1578T>A (p.Asn526Lys)	PEX5 (N481K +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GPathogenic
Select item 9143	NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)	PEX5 (N489K +7 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 92743	NM_000277.3(PAH):c.500A>T (p.Asn167Ile)	PAH (N167I)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 188426	NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg)	BRCA2 (G271R)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 96761	NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)	BRCA2 (K382N)	Single nucleotide variant (missense variant)	Familial cancer of breast +10 more	GConflicting classifications of pathogenicity
Select item 51765	NM_000059.4(BRCA2):c.5096A>G (p.Asp1699Gly)	BRCA2 (D1699G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1073562	NM_000059.4(BRCA2):c.5985del (p.Asn1995fs)	BRCA2 (N1995fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic
Select item 41561	NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg)	BRCA2 (H2116R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52515	NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)	BRCA2 (D2723H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52547	NM_000059.4(BRCA2):c.8324T>G (p.Met2775Arg)	BRCA2 (M2775R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +6 more	GConflicting classifications of pathogenicity
Select item 191059	NM_014249.4(NR2E3):c.119-2A>C	NR2E3	Single nucleotide variant (splice acceptor variant)	not specified +11 more	GPathogenic/Likely pathogenic
Select item 3336047	NM_014249.4(NR2E3):c.739C>T (p.Arg247Trp)	NR2E3 (R247W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 498474	NM_000326.5(RLBP1):c.25C>T (p.Arg9Cys)	RLBP1 (R9C)	Single nucleotide variant (missense variant)	Newfoundland cone-rod dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 128150	NM_024675.4(PALB2):c.949A>C (p.Thr317Pro)	PALB2 (T317P)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 408171	NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)	FANCA (R1144W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 409334	NM_007294.4(BRCA1):c.5566C>A (p.Pro1856Thr)	BRCA1 (P1856T +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 55628	NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)	BRCA1 (Y1853* +3 more)	Duplication (frameshift variant +3 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 419732	NM_007294.4(BRCA1):c.5531T>C (p.Leu1844Pro)	BRCA1 (L1844P +80 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 37680	NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys)	BRCA1 (W1837C +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 55605	NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys)	BRCA1 (E1836K +80 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 55598	NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)	BRCA1 (V1833M +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic/Likely pathogenic
Select item 55592	NM_007294.4(BRCA1):c.5478G>T (p.Gln1826His)	BRCA1 (Q1826H +90 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 55578	NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg)	BRCA1 (Q1811R +80 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely pathogenic
Select item 55570	NM_007294.4(BRCA1):c.5416C>G (p.Pro1806Ala)	BRCA1 (P1806A +90 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 55568	NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp)	BRCA1 (V1804D +90 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 187349	NM_007294.4(BRCA1):c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp)	BRCA1	Indel (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17694	NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)	BRCA1 (M1775R +79 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37656	NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser)	BRCA1 (I1766S +79 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55510	NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro)	BRCA1 (L1764P +79 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 96944	NM_007294.4(BRCA1):c.5254G>A (p.Ala1752Thr)	BRCA1 (A1752T +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 55476	NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)	BRCA1 (G1748D +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 55461	NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)	BRCA1 (G1738R +79 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37648	NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)	BRCA1 (V1736A +79 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55441	NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)	BRCA1 (S1722F +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 55438	NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala)	BRCA1 (T1720A +79 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55412	NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)	BRCA1 (V1713A +78 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 37638	NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)	BRCA1 (G1706E +78 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 267221	NM_007294.4(BRCA1):c.5116G>A (p.Gly1706Arg)	BRCA1 (G1706R +78 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 55399	NM_007294.4(BRCA1):c.5098A>G (p.Thr1700Ala)	BRCA1 (T1700A +78 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 37636	NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	BRCA1 (R1699Q +78 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55396	NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)	BRCA1 (R1699W +78 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55374	NM_007294.4(BRCA1):c.5073A>G (p.Thr1691=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	BRCA1-related cancer predisposition	GUncertain significance FDA Recognized database
Select item 37625	NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)	BRCA1 (M1689R +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +4 more	GPathogenic/Likely pathogenic
Select item 183179	NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)	BRCA1 (H1686R +77 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 661520	NM_007294.4(BRCA1):c.4970T>C (p.Leu1657Pro)	BRCA1 (L1610P +77 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 55333	NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)	BRCA1 (S1655F +77 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 37615	NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr)	BRCA1 (M1652T +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55318	NM_007294.4(BRCA1):c.4931A>G (p.Glu1644Gly)	BRCA1 (E1644G +77 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 55306	NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)	BRCA1 (M1628V +77 more)	Single nucleotide variant (missense variant +1 more)	Breast neoplasm +5 more	GConflicting classifications of pathogenicity
Select item 41827	NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)	BRCA1 (S1613G +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 37613	NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys)	BRCA1 (S1613C +77 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 55262	NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro)	BRCA1 (L1564P +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55259	NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)	BRCA1 (T1561I +77 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign

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