BRAF unknown - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1165

<< First< Prev

Page of 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 47893	NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del)	NEXN	Microsatellite (inframe_deletion)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 235051	NM_001035.3(RYR2):c.10125A>G (p.Arg3375=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 40733	NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu)	SOS1 (D1200E +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely benignFDA Recognized database
Select item 449432	NM_000251.3(MSH2):c.157G>A (p.Ala53Thr)	MSH2 (A53T)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 90514	NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu)	MSH2 (P349L +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 89219	NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)	MSH6 (S580L +2 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 89257	NM_000179.3(MSH6):c.2175C>G (p.Ile725Met)	MSH6 (I725M +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 490016	NM_000179.3(MSH6):c.3947G>A (p.Gly1316Glu)	MSH6 (G1316E +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 141327	NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)	MSH6 (E1335A +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 188188	NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp)	MSH6 (E1335D +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 13960	NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)	RAF1 (L613V +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GPathogenicFDA Recognized database
Select item 800484	NM_000249.4(MLH1):c.200G>T (p.Gly67Val)	MLH1 (G67V)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 234370	NM_000249.4(MLH1):c.392C>G (p.Ser131Ter)	MLH1 (S131* +2 more)	Single nucleotide variant (nonsense +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +3 more	GPathogenic
Select item 90265	NM_000249.4(MLH1):c.546-1G>A	MLH1	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 1331951	NM_000249.4(MLH1):c.677+1G>C	MLH1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome	GPathogenic/Likely pathogenic
Select item 90312	NM_000249.4(MLH1):c.677+1G>T	MLH1	Single nucleotide variant (splice donor variant)	Lynch syndrome	GPathogenic
Select item 89629	NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)	MLH1 (T347N +4 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 976474	NM_000249.4(MLH1):c.1595G>A (p.Gly532Asp)	MLH1 (G174D +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colon cancer +3 more	GConflicting classifications of pathogenicity
Select item 1778982	NM_000249.4(MLH1):c.1731+5G>C	MLH1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 89915	NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser)	MLH1 (F626S +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2600778	NM_000249.4(MLH1):c.1989+3dup	MLH1	Duplication (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 17099	NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	MLH1 (A681T +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 90076	NM_000249.4(MLH1):c.2159T>G (p.Val720Gly)	MLH1 (V720G +8 more)	Single nucleotide variant (missense variant)	Lynch syndrome +3 more	GConflicting classifications of pathogenicity
Select item 820890	NM_000249.4(MLH1):c.2219del (p.Ile740fs)	MLH1 (I499fs +8 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 30300	NM_004656.4(BAP1):c.2057-2A>G	BAP1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 30299	NM_004656.4(BAP1):c.1305del (p.Gln436fs)	BAP1 (Q436fs)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 635781	NM_001085049.3(MRAS):c.68G>T (p.Gly23Val)	MRAS (G23V)	Single nucleotide variant (missense variant +1 more)	RASopathy	GLikely pathogenicFDA Recognized database
Select item 635783	NM_001085049.3(MRAS):c.212A>G (p.Gln71Arg)	MRAS (Q71R)	Single nucleotide variant (missense variant +1 more)	RASopathy	GLikely pathogenicFDA Recognized database
Select item 13652	NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	PIK3CA (H1047R)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes +1 more	GPathogenicFDA Recognized database OOncogenic
Select item 30280	NM_001553.3(IGFBP7):c.830-1G>A	IGFBP7	Single nucleotide variant (splice acceptor variant)	Familial retinal arterial macroaneurysm +1 more	GConflicting classifications of pathogenicity
Select item 1299388	NM_198253.3(TERT):c.-124C>T	LOC110806263, TERT	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 2 +2 more	GLikely pathogenic OOncogenic
Select item 4505	NM_016180.5(SLC45A2):c.1122= (p.Leu374=)	SLC45A2	Single nucleotide variant (no sequence alteration)	not provided	GBenign
Select item 446362	GRCh37/hg19 5p14.3(chr5:22657926-23156895)x3	CDH12	Copy number gain	See cases	GUncertain significance
Select item 635222	NM_001105206.3(LAMA4):c.5206+1G>A	LAMA4	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	KMT2C, KMT2E +4737 more	Copy number loss	See cases	GPathogenic
Select item 41708	NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)	PMS2 (M622I +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 91305	NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln)	PMS2 (E504Q +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +5 more	GConflicting classifications of pathogenicity
Select item 242372	NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln)	SAMD9L (H880Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	CPA1, CPA2 +2213 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	LOC126860241, LOC126860242 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	FAM180A, FASTK +1052 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	ABCB8, ABCF2 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC113687197, LOC113687198 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	PAXIP1-DT, PDIA4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999448, LOC129999449 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	ADCK2, AGBL3 +455 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999488, LOC129999489 +908 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	LOC129999557, LOC129999558 +692 more	Copy number gain	See cases	GPathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	ADCK2, AGK +230 more	Copy number gain	See cases	GUncertain significance
Select item 359041	NM_004333.6(BRAF):c.*387G>A	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 7 +1 more	GBenign
Select item 909590	NM_004333.6(BRAF):c.*216T>C	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 7 +1 more	GUncertain significance
Select item 910513	NM_004333.6(BRAF):c.*203A>G	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 3 +1 more	GUncertain significance
Select item 910514	NM_004333.6(BRAF):c.*143A>G	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 3 +1 more	GUncertain significance
Select item 910515	NM_004333.6(BRAF):c.*124G>C	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 3 +1 more	GUncertain significance
Select item 359042	NM_004333.6(BRAF):c.*111C>T	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 7 +1 more	GBenign/Likely benign
Select item 477661	NC_000007.13:g.(?_140434377)_(140534692_?)dup	BRAF, LOC126860202 +3 more	Duplication	RASopathy	GUncertain significance
Select item 162794	NM_004333.6(BRAF):c.*7T>C	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	RASopathy	GLikely benignFDA Recognized database
Select item 359043	NM_004333.6(BRAF):c.*3C>T	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 7 +1 more	GUncertain significance
Select item 2030435	NM_004333.6(BRAF):c.2296_2298del (p.His766del)	BRAF (H766del +3 more)	Deletion (inframe_deletion +1 more)	RASopathy	GUncertain significance
Select item 3021504	NM_004333.6(BRAF):c.2296C>T (p.His766Tyr)	BRAF (H744Y +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 1466853	NM_004333.6(BRAF):c.2293G>C (p.Val765Leu)	BRAF (V743L +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3642833	NM_004333.6(BRAF):c.2292T>C (p.Pro764=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 1697101	NM_004333.6(BRAF):c.2291C>T (p.Pro764Leu)	BRAF (P712L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2710034	NM_004333.6(BRAF):c.2285C>T (p.Ala762Val)	BRAF (A740V +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 568014	NM_004333.6(BRAF):c.2279A>G (p.Tyr760Cys)	BRAF (Y760C +7 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2731053	NM_004333.6(BRAF):c.2277A>T (p.Gly759=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 3636769	NM_004333.6(BRAF):c.2276G>C (p.Gly759Ala)	BRAF (G671A +7 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2728570	NM_004333.6(BRAF):c.2276del (p.Gly759fs)	BRAF (G707fs +7 more)	Deletion (frameshift variant +1 more)	RASopathy	GUncertain significance
Select item 802372	NM_004333.6(BRAF):c.2276G>A (p.Gly759Glu)	BRAF (G799E +1 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1	GLikely pathogenic
Select item 3616707	NM_004333.6(BRAF):c.2272G>C (p.Gly758Arg)	BRAF (G670R +7 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2115455	NM_004333.6(BRAF):c.2271A>T (p.Ala757=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 3481742	NM_004333.6(BRAF):c.2265C>T (p.Ile755=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1385876	NM_004333.6(BRAF):c.2265C>G (p.Ile755Met)	BRAF (I703M +7 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 1972641	NM_004333.6(BRAF):c.2263A>G (p.Ile755Val)	BRAF (I718V +7 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2140663	NM_004333.6(BRAF):c.2253A>G (p.Pro751=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 40399	NM_004333.6(BRAF):c.2235A>G (p.Leu745=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenignFDA Recognized database
Select item 2194690	NM_004333.6(BRAF):c.2231G>A (p.Ser744Asn)	BRAF (S707N +7 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 1788123	NM_004333.6(BRAF):c.2231G>C (p.Ser744Thr)	BRAF (S707T +7 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 44824	NM_004333.6(BRAF):c.2229T>C (p.Phe743=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy +1 more	GLikely benign
Select item 3699168	NM_004333.6(BRAF):c.2214C>T (p.Phe738=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 1715499	NM_004333.6(BRAF):c.2213T>G (p.Phe738Cys)	BRAF (F650C +7 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 3481737	NM_004333.6(BRAF):c.2211T>C (p.Gly737=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1573941	NM_004333.6(BRAF):c.2205G>A (p.Arg735=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 1715724	NM_004333.6(BRAF):c.2204G>A (p.Arg735Gln)	BRAF (R647Q +7 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 1349879	NM_004333.6(BRAF):c.2203C>T (p.Arg735Trp)	BRAF (R647W +7 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 417227	NM_004333.6(BRAF):c.2196C>G (p.Ser732=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy +5 more	GConflicting classifications of pathogenicity
Select item 2901739	NM_004333.6(BRAF):c.2195C>T (p.Ser732Phe)	BRAF (S698F +7 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 561696	NM_004333.6(BRAF):c.2191C>T (p.Pro731Ser)	BRAF (P731S +7 more)	Single nucleotide variant (missense variant +1 more)	Cardiofaciocutaneous syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1562586	NM_004333.6(BRAF):c.2190A>G (p.Glu730=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 3708603	NM_004333.6(BRAF):c.2184A>G (p.Ala728=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 3594393	NM_004333.6(BRAF):c.2182G>A (p.Ala728Thr)	BRAF (A640T +7 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 1 +5 more	GUncertain significance
Select item 3651270	NM_004333.6(BRAF):c.2181T>C (p.Ser727=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 1996442	NM_004333.6(BRAF):c.2176C>T (p.Arg726Cys)	BRAF (R638C +7 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 1563157	NM_004333.6(BRAF):c.2160A>G (p.Ser720=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy +1 more	GLikely benign
Select item 1660325	NM_004333.6(BRAF):c.2157C>T (p.Arg719=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 1054243	NM_004333.6(BRAF):c.2156G>A (p.Arg719His)	BRAF (R631H +7 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +1 more	GUncertain significance
Select item 2167505	NM_004333.6(BRAF):c.2155C>T (p.Arg719Cys)	BRAF (R719C +7 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 3700229	NM_004333.6(BRAF):c.2145G>A (p.Glu715=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 477688	NM_004333.6(BRAF):c.2142T>C (p.Ile714=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign

<< First< Prev

Page of 12