C3150971[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1410272	NM_004333.6(BRAF):c.2140A>G (p.Ile714Val)	BRAF (I662V +7 more)	Single nucleotide variant (missense variant +1 more)	Lung cancer +7 more	GUncertain significance
Select item 44823	NM_004333.6(BRAF):c.2136C>T (p.Ala712=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	not provided +10 more	GBenign/Likely benign
Select item 1334201	NM_004333.6(BRAF):c.2128-10_2128-9insC	BRAF	Insertion (intron variant)	Cardiofaciocutaneous syndrome 1 +8 more	GBenign/Likely benign
Select item 1545692	NM_004333.6(BRAF):c.2128-27_2128-19del	BRAF	Deletion (intron variant)	RASopathy +7 more	GLikely benign
Select item 41447	NM_004333.6(BRAF):c.2127+3A>G	BRAF	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 1205197	NM_004333.6(BRAF):c.1993-11T>C	BRAF	Single nucleotide variant (intron variant)	Lung cancer +8 more	GLikely benign
Select item 40393	NM_004333.6(BRAF):c.1992+16G>C	BRAF	Single nucleotide variant (intron variant)	Noonan syndrome 7 +8 more	GBenign/Likely benign
Select item 1554615	NM_004333.6(BRAF):c.1992+15C>T	BRAF	Single nucleotide variant (intron variant)	RASopathy +7 more	GLikely benign
Select item 561797	NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys)	BRAF (Y647C +7 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 13981	NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	BRAF (D638E +7 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 380268	NM_004333.6(BRAF):c.1860+16A>G	BRAF	Single nucleotide variant (intron variant)	RASopathy +9 more	GBenign/Likely benign
Select item 1154928	NM_004333.6(BRAF):c.1848C>A (p.Ser616=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy +8 more	GLikely benign
Select item 44811	NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)	BRAF (N581K +7 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 1147384	NM_004333.6(BRAF):c.1719C>A (p.Ile573=)	BRAF	Single nucleotide variant (synonymous variant)	Noonan syndrome 1 +7 more	GLikely benign
Select item 561862	NM_004333.6(BRAF):c.1694+13C>T	BRAF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +8 more	GLikely benign
Select item 40370	NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)	BRAF (L485S +7 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 1593486	NM_004333.6(BRAF):c.1433-18G>A	BRAF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +7 more	GLikely benign
Select item 1651604	NM_004333.6(BRAF):c.1432+17_1432+19del	BRAF	Microsatellite (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +8 more	GBenign/Likely benign
Select item 1624632	NM_004333.6(BRAF):c.1338G>A (p.Ser446=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy +8 more	GLikely benign
Select item 40361	NM_004333.6(BRAF):c.1315-18T>G	BRAF	Single nucleotide variant (intron variant)	Noonan syndrome 7 +9 more	GBenign
Select item 392213	NM_004333.6(BRAF):c.1314+17T>C	BRAF	Single nucleotide variant (intron variant)	Cardiofaciocutaneous syndrome 1 +8 more	GLikely benign
Select item 44799	NM_004333.6(BRAF):c.1237G>A (p.Val413Met)	BRAF (V413M +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 7 +8 more	GUncertain significance
Select item 704330	NM_004333.6(BRAF):c.1206C>A (p.Pro402=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy +9 more	GLikely benign
Select item 691718	NM_004333.6(BRAF):c.1205C>A (p.Pro402His)	BRAF (P402H +5 more)	Single nucleotide variant (missense variant +1 more)	LEOPARD syndrome 3 +10 more	GUncertain significance
Select item 910575	NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro)	BRAF (S342P +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +7 more	GUncertain significance
Select item 372627	NM_004333.6(BRAF):c.1166G>A (p.Arg389His)	BRAF (R389H +4 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +7 more	GUncertain significance
Select item 136531	NM_004333.6(BRAF):c.1141-19C>T	BRAF	Single nucleotide variant (intron variant)	Lung cancer +8 more	GBenign/Likely benign
Select item 1320770	NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln)	BRAF, LOC126860202 (R266Q +4 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 3 +8 more	GUncertain significance
Select item 359048	NM_004333.6(BRAF):c.1024A>G (p.Ile342Val)	BRAF, LOC126860202 (I342V +4 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 180780	NM_004333.6(BRAF):c.981-20C>T	BRAF, LOC126860202	Single nucleotide variant (intron variant)	Noonan syndrome 1 +8 more	GBenign/Likely benign
Select item 1091347	NM_004333.6(BRAF):c.915G>A (p.Ala305=)	BRAF	Single nucleotide variant (synonymous variant)	LEOPARD syndrome 3 +9 more	GConflicting classifications of pathogenicity
Select item 40347	NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)	BRAF (L245F +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 29805	NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	BRAF (T241M +4 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +9 more	GPathogenic/Likely pathogenic
Select item 29807	NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	BRAF (T241P +4 more)	Single nucleotide variant (missense variant)	RASopathy +7 more	GPathogenic/Likely pathogenic
Select item 180764	NM_004333.6(BRAF):c.712-18T>C	BRAF	Single nucleotide variant (intron variant)	not specified +8 more	GBenign/Likely benign
Select item 514636	NM_004333.6(BRAF):c.504+19C>T	BRAF	Single nucleotide variant (intron variant)	LEOPARD syndrome 3 +8 more	GBenign/Likely benign
Select item 372564	NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)	BRAF (R146Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 40342	NM_004333.6(BRAF):c.399A>G (p.Ser133=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	not provided +10 more	GBenign/Likely benign
Select item 1569131	NM_004333.6(BRAF):c.298T>C (p.Leu100=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy +7 more	GLikely benign
Select item 1219871	NM_004333.6(BRAF):c.260G>A (p.Ser87Asn)	BRAF (S35N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 180783	NM_004333.6(BRAF):c.240+18A>G	BRAF	Single nucleotide variant (intron variant)	Noonan syndrome 1 +8 more	GBenign/Likely benign
Select item 1478309	NM_004333.6(BRAF):c.124G>T (p.Ala42Ser)	BRAF (A42S)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +7 more	GUncertain significance
Select item 1047782	NM_004333.6(BRAF):c.112G>C (p.Ala38Pro)	BRAF (A38P)	Single nucleotide variant (missense variant)	LEOPARD syndrome 3 +8 more	GUncertain significance
Select item 1445848	NM_004333.6(BRAF):c.26G>C (p.Gly9Ala)	BRAF (G9A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance

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Items: 44