care cavaleriensis - ClinVar - NCBI

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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2499671	NM_001170535.3(ATAD3A):c.1373A>C (p.Gln458Pro)	ATAD3A (Q379P +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 3336602	NM_018216.4(PANK4):c.847G>A (p.Asp283Asn)	PANK4 (D283N)	Single nucleotide variant (missense variant)	Cataract 49	GUncertain significance
Select item 283154	NM_001365951.3(KIF1B):c.2115+6956A>G	KIF1B (E1006G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 4660	NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)	KIF1B (T827I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 12792	NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	SDHB (S163P)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +7 more	GConflicting classifications of pathogenicity
Select item 201609	NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)	SDHB (R90Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 981889	NM_001135254.2(PAX7):c.602A>G (p.Glu201Gly)	PAX7 (E199G +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 438800	NM_003748.4(ALDH4A1):c.866+1G>A	ALDH4A1	Single nucleotide variant (splice donor variant)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity
Select item 981885	NM_032264.6(NBPF3):c.2T>C (p.Met1Thr)	NBPF3 (M1T)	Single nucleotide variant (missense variant +3 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 981842	NM_002167.5(ID3):c.145T>A (p.Ser49Thr)	ID3 (S49T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 222849	NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter)	TRIM63 (Q247*)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 3062228	NM_032588.4(TRIM63):c.277C>T (p.Gln93Ter)	TRIM63 (Q93*)	Single nucleotide variant (nonsense)	Idiopathic cardiomyopathy	GPathogenic
Select item 222847	NM_032588.4(TRIM63):c.224G>A (p.Cys75Tyr)	TRIM63 (C75Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 438751	NM_006015.6(ARID1A):c.2732G>T (p.Arg911Met)	ARID1A (R911M)	Single nucleotide variant (missense variant)	Medulloblastoma	Gother
Select item 438750	NM_006015.6(ARID1A):c.6259G>A (p.Gly2087Arg)	ARID1A (G2087R +1 more)	Single nucleotide variant (missense variant)	Hepatoblastoma	Gother
Select item 981870	NM_001020658.2(PUM1):c.229G>C (p.Asp77His)	PUM1 (D77H)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2573189	NM_003738.5(PTCH2):c.2315dup (p.Pro773fs)	PTCH2 (P773fs)	Duplication (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 988581	NM_001048174.2(MUTYH):c.1258C>A (p.His420Asn)	MUTYH (H305N +7 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of breast	GUncertain significance
Select item 41752	NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)	MUTYH (L420M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 981835	NM_001048174.2(MUTYH):c.1149del (p.Ser384fs)	MUTYH (S269fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Familial colorectal cancer +7 more	GPathogenic/Likely pathogenic
Select item 419386	NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp)	MUTYH (R185W +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GConflicting classifications of pathogenicity
Select item 185512	NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)	MUTYH (R97Q +5 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 221574	NM_003629.4(PIK3R3):c.797G>A (p.Arg266His)	PIK3R3, P3R3URF-PIK3R3 (R266H +5 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 1678875	NM_003579.4(RAD54L):c.62A>G (p.Asp21Gly)	RAD54L (D21G)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1678911	NM_003579.4(RAD54L):c.95C>G (p.Pro32Arg)	RAD54L (P32R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1678933	NM_003579.4(RAD54L):c.144G>C (p.Leu48=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2431693	NM_003579.4(RAD54L):c.214G>C (p.Ala72Pro)	RAD54L (A72P)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 1678971	NM_003579.4(RAD54L):c.272-21G>A	RAD54L	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 1678999	NM_003579.4(RAD54L):c.352T>C (p.Leu118=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1679020	NM_003579.4(RAD54L):c.366G>A (p.Glu122=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1679040	NM_003579.4(RAD54L):c.460C>T (p.Arg154Trp)	RAD54L (R154W)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1679084	NM_003579.4(RAD54L):c.477+37G>T	RAD54L	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 981808	NM_003579.4(RAD54L):c.604C>T (p.Arg202Cys)	RAD54L (R202C +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 1679090	NM_003579.4(RAD54L):c.767-57G>T	RAD54L	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 1678876	NM_003579.4(RAD54L):c.767A>T (p.Glu256Val)	RAD54L (E256V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1683610	NM_003579.4(RAD54L):c.863del (p.Gly288fs)	RAD54L (G108fs +1 more)	Deletion (frameshift variant)	Familial cancer of breast	GUncertain significance
Select item 1678881	NM_003579.4(RAD54L):c.892-26C>T	RAD54L	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 1678883	NM_003579.4(RAD54L):c.894A>G (p.Gly298=)	RAD54L	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1678887	NM_003579.4(RAD54L):c.1042+55G>C	RAD54L	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 1678891	NM_003579.4(RAD54L):c.1042+78G>A	RAD54L	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 981882	NM_003579.4(RAD54L):c.1094G>A (p.Arg365Gln)	RAD54L (R185Q +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 929734	NM_003579.4(RAD54L):c.1138C>T (p.Arg380Trp)	RAD54L (R200W +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure +1 more	GConflicting classifications of pathogenicity
Select item 1678895	NM_003579.4(RAD54L):c.1245-61del	RAD54L	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678898	NM_003579.4(RAD54L):c.1245-38_1245-37delinsAT	RAD54L	Indel (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2444504	NM_003579.4(RAD54L):c.1250C>T (p.Thr417Ile)	RAD54L (T237I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2671642	NM_003579.4(RAD54L):c.1298del (p.Pro433fs)	RAD54L (P253fs +1 more)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 1678904	NM_003579.4(RAD54L):c.1299G>A (p.Pro433=)	RAD54L	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1678907	NM_003579.4(RAD54L):c.1375+32T>C	RAD54L	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678912	NM_003579.4(RAD54L):c.1393_1395del (p.Asp465del)	RAD54L (D285del +1 more)	Deletion (inframe_deletion)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1678914	NM_003579.4(RAD54L):c.1487-75G>A	RAD54L	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678917	NM_003579.4(RAD54L):c.1487-11G>A	RAD54L	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678921	NM_003579.4(RAD54L):c.1523C>T (p.Thr508Ile)	RAD54L (T328I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1775211	NM_003579.4(RAD54L):c.1559C>T (p.Ser520Leu)	RAD54L (S520L +1 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 1678922	NM_003579.4(RAD54L):c.1600C>T (p.Arg534Cys)	RAD54L (R354C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1678926	NM_003579.4(RAD54L):c.1611-71T>A	RAD54L	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678928	NM_003579.4(RAD54L):c.1611-51del	RAD54L	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678930	NM_003579.4(RAD54L):c.1611-56T>A	RAD54L	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678931	NM_003579.4(RAD54L):c.1611-55T>A	RAD54L	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 1678932	NM_003579.4(RAD54L):c.1615T>C (p.Leu539=)	RAD54L	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 1777062	NM_003579.4(RAD54L):c.1641G>C (p.Met547Ile)	RAD54L (M547I +1 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 1678934	NM_003579.4(RAD54L):c.1748T>C (p.Ile583Thr)	RAD54L (I403T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1779740	NM_003579.4(RAD54L):c.1769T>C (p.Met590Thr)	RAD54L (M410T +1 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 1678937	NM_003579.4(RAD54L):c.2026C>T (p.His676Tyr)	LRRC41, RAD54L (H496Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1678938	NM_003579.4(RAD54L):c.2034-6C>T	LRRC41, RAD54L	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678940	NM_003579.4(RAD54L):c.2063G>A (p.Arg688His)	LRRC41, RAD54L (R508H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 1678943	NM_003579.4(RAD54L):c.2190C>T (p.Ala730=)	LRRC41, RAD54L	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 1678944	NM_003579.4(RAD54L):c.2197T>G (p.Phe733Val)	LRRC41, RAD54L (F553V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 2585329	NM_003579.4(RAD54L):c.2209C>T (p.Gln737Ter)	LRRC41, RAD54L (Q737* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 523456	NM_002979.5(SCP2):c.199G>A (p.Gly67Ser)	SCP2 (G67S)	Single nucleotide variant (missense variant +2 more)	Leukodystrophy	GUncertain significance
Select item 1064565	NM_057176.3(BSND):c.64G>A (p.Gly22Ser)	BSND (G22S)	Single nucleotide variant (missense variant)	Bartter disease type 4A	GUncertain significance
Select item 4387	NM_057176.3(BSND):c.139G>A (p.Gly47Arg)	BSND (G47R)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive +2 more	GPathogenic
Select item 189036	NM_000016.6(ACADM):c.449_452del (p.Thr150fs)	ACADM (T150fs +3 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 843524	NM_000016.6(ACADM):c.1085G>A (p.Gly362Glu)	ACADM (G326E +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 994289	NM_001010985.3(MYBPHL):c.763C>T (p.Arg255Ter)	MYBPHL (R232* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 438785	NM_022768.5(RBM15):c.1912C>A (p.Gln638Lys)	LOC112577475, RBM15 (Q638K)	Single nucleotide variant (missense variant)	Neuroblastoma	Gother
Select item 2498208	NM_022836.4(DCLRE1B):c.248A>G (p.Asp83Gly)	DCLRE1B (D83G)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group C	GPathogenic
Select item 2498209	NM_022836.4(DCLRE1B):c.807C>T (p.His269=)	DCLRE1B	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group C	GPathogenic
Select item 256640	NM_000549.5(TSHB):c.40A>G (p.Thr14Ala)	TSHB (T14A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 292254	NM_000198.3(HSD3B2):c.-145G>A	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia +1 more	GConflicting classifications of pathogenicity
Select item 3336482	NM_000198.4(HSD3B2):c.320T>A (p.Leu107Gln)	HSD3B2 (L107Q)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 1705245	NM_000198.4(HSD3B2):c.376G>T (p.Glu126Ter)	HSD3B2 (E126*)	Single nucleotide variant (nonsense)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 971607	NM_000198.4(HSD3B2):c.385G>A (p.Gly129Arg)	HSD3B2 (G129R)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 944811	NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg)	HSD3B2 (L173R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 12191	NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr)	HSD3B2 (P222T)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +1 more	GPathogenic
Select item 1722337	NM_000198.4(HSD3B2):c.665C>A (p.Pro222Gln)	HSD3B2 (P222Q)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +1 more	GPathogenic
Select item 2577239	NM_000198.4(HSD3B2):c.733G>C (p.Ala245Pro)	HSD3B2 (A245P)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GPathogenic
Select item 12192	NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met)	HSD3B2 (T259M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 586031	NM_000198.4(HSD3B2):c.818_819del (p.Lys273fs)	HSD3B2 (K273fs)	Deletion (frameshift variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +2 more	GPathogenic
Select item 1722338	NM_000198.4(HSD3B2):c.849del (p.Arg282_Trp283insTer)	HSD3B2	Deletion (nonsense)	Congenital adrenal hyperplasia +1 more	GPathogenic/Likely pathogenic
Select item 937691	NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)	HSD3B2 (Q311*)	Single nucleotide variant (nonsense)	Congenital adrenal hyperplasia +2 more	GPathogenic/Likely pathogenic
Select item 517183	NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter)	HSD3B2 (W355*)	Single nucleotide variant (nonsense)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 292268	NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp)	HSD3B2 (R362W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 981850	NM_024408.4(NOTCH2):c.455C>T (p.Pro152Leu)	NOTCH2 (P152L)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 981853	NM_004284.6(CHD1L):c.1256T>C (p.Leu419Pro)	CHD1L (L138P +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 224726	NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)	POGZ (E1145fs +4 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 830044	NM_018116.4(MSTO1):c.571C>T (p.Arg191Trp)	MSTO1 (R13W +4 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome +1 more	GUncertain significance
Select item 242002	NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys)	LMNA (R419C +2 more)	Single nucleotide variant (missense variant)	not provided +15 more	GConflicting classifications of pathogenicity
Select item 438783	NM_005973.5(PRCC):c.908C>T (p.Pro303Leu)	PRCC (P303L)	Single nucleotide variant (missense variant)	YOLK SAC TUMOR AND HIGH-GRADE IMMATURE TERATOMA	Gother
Select item 780267	NM_004833.3(AIM2):c.1030T>G (p.Ter344Glu)	AIM2	Single nucleotide variant (stop lost)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity

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