ditassa melanoma - ClinVar - NCBI

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The following term was not found in ClinVar: ditassa.
Showing results for Ditassa melantha. Your search for Ditassa melantha retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376129	NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)	MTOR (S2215Y)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 156703	NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)	MTOR (S2215F)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 376457	NM_004958.4(MTOR):c.6643T>A (p.Ser2215Thr)	MTOR (S2215T)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +6 more	GLikely pathogenic
Select item 376358	NM_004958.4(MTOR):c.6637C>T (p.Pro2213Ser)	MTOR (P2213S)	Single nucleotide variant (missense variant)	Melanoma	Gnot provided
Select item 376357	NM_004958.4(MTOR):c.5902C>T (p.His1968Tyr)	MTOR (H1968Y)	Single nucleotide variant (missense variant)	Melanoma	Gnot provided
Select item 585085	NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val)	ATP13A2 (A249V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spastic paraplegia type 78 +3 more	GConflicting classifications of pathogenicity
Select item 459138	NM_003000.3(SDHB):c.172A>G (p.Met58Val)	SDHB (M58V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 184148	NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)	SDHB (G53E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 371801	NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)	SDHB (R38C)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +6 more	GUncertain significance
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 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 585090	NM_001376013.1(EPB41):c.2047G>C (p.Ala683Pro)	EPB41 (A441P +11 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +1 more	GUncertain significance
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 135563	NM_005373.3(MPL):c.79+2T>A	MPL	Single nucleotide variant (splice donor variant)	Congenital amegakaryocytic thrombocytopenia +6 more	GPathogenic/Likely pathogenic
Select item 2573189	NM_003738.5(PTCH2):c.2315dup (p.Pro773fs)	PTCH2 (P773fs)	Duplication (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 182685	NM_001048174.2(MUTYH):c.1504G>T (p.Asp502Tyr)	MUTYH (D530Y +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 142440	NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)	MUTYH (R495H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 186129	NM_001048174.2(MUTYH):c.1351G>A (p.Glu451Lys)	MUTYH (E479K +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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 183823	NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala)	MUTYH (P334A +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 141145	NM_001048174.2(MUTYH):c.665G>A (p.Gly222Asp)	MUTYH (G250D +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 135988	NM_001048174.2(MUTYH):c.523C>T (p.Arg175Cys)	MUTYH (R203C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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)	Hereditary breast ovarian cancer syndrome +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)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 1679020	NM_003579.4(RAD54L):c.366G>A (p.Glu122=)	RAD54L	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome +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)	Familial cancer of breast +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)	Hereditary breast ovarian cancer syndrome +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)	Hereditary breast ovarian cancer syndrome +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)	Hereditary breast ovarian cancer syndrome +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)	Hereditary breast ovarian cancer syndrome +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 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 585106	NM_001004303.5(FYB2):c.1420G>T (p.Glu474Ter)	FYB2 (E474*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 298135	NM_053274.3(GLMN):c.978-4T>C	GLMN	Single nucleotide variant (intron variant)	Glomuvenous malformation	GLikely benign
Select item 520995	NM_000969.5(RPL5):c.73+1G>A	DIPK1A, RPL5	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 375873	NM_002524.5(NRAS):c.182_183delinsGG (p.Gln61Arg)	NRAS (Q61R)	Indel (missense variant)	Melanoma	GPathogenic
Select item 375872	NM_002524.5(NRAS):c.182_183delinsTG (p.Gln61Leu)	NRAS (Q61L)	Indel (missense variant)	Melanoma	GPathogenic
Select item 375871	NM_002524.5(NRAS):c.183A>C (p.Gln61His)	NRAS (Q61H)	Single nucleotide variant (missense variant)	Melanoma +2 more	GPathogenic/Likely pathogenic
Select item 373003	NM_002524.5(NRAS):c.183A>T (p.Gln61His)	NRAS (Q61H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 376220	NM_002524.5(NRAS):c.181_182delinsAG (p.Gln61Arg)	NRAS (Q61R)	Indel (missense variant)	Melanoma	GLikely pathogenic
Select item 375874	NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)	NRAS (Q61L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 280409	NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)	NRAS (Q61P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13900	NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)	NRAS (Q61R)	Single nucleotide variant (missense variant)	Large congenital melanocytic nevus +4 more	GPathogenic OOncogenic
Select item 376027	NM_002524.5(NRAS):c.181C>T (p.Gln61Ter)	NRAS (Q61*)	Single nucleotide variant (nonsense)	Melanoma	GLikely pathogenic
Select item 375875	NM_002524.5(NRAS):c.181C>G (p.Gln61Glu)	NRAS (Q61E)	Single nucleotide variant (missense variant)	Melanoma	GPathogenic
Select item 73058	NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)	NRAS (Q61K)	Single nucleotide variant (missense variant)	Large congenital melanocytic nevus +3 more	GConflicting classifications of pathogenicity OOncogenic
Select item 376028	NM_002524.5(NRAS):c.52G>A (p.Ala18Thr)	NRAS (A18T)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 375877	NM_002524.5(NRAS):c.38G>C (p.Gly13Ala)	NRAS (G13A)	Single nucleotide variant (missense variant)	Melanoma	GPathogenic
Select item 375876	NM_002524.5(NRAS):c.38G>T (p.Gly13Val)	NRAS (G13V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 13901	NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	NRAS (G13D)	Single nucleotide variant (missense variant)	Acute megakaryoblastic leukemia in down syndrome +3 more	GPathogenic/Likely pathogenic
Select item 40471	NM_002524.5(NRAS):c.37G>T (p.Gly13Cys)	NRAS (G13C)	Single nucleotide variant (missense variant)	Melanoma	GPathogenic

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