ClinVar for MedGen (Select 462320) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 145

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3602712	NM_004333.6(BRAF):c.1795A>G (p.Thr599Ala)	BRAF (T511A +7 more)	Single nucleotide variant (missense variant)	Noonan syndrome 7	GUncertain significance
Select item 3594408	NM_004333.6(BRAF):c.208G>A (p.Gly70Arg)	BRAF (G18R +1 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 1 +5 more	GUncertain significance
Select item 3594407	NM_004333.6(BRAF):c.282A>G (p.Gln94=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 1 +5 more	GUncertain significance
Select item 3594406	NM_004333.6(BRAF):c.416A>C (p.Gln139Pro)	BRAF (Q105P +2 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 1 +5 more	GUncertain significance
Select item 3594404	NM_004333.6(BRAF):c.608+6G>T	BRAF (G205V)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 1 +5 more	GUncertain significance
Select item 3594403	NM_004333.6(BRAF):c.957C>A (p.Ser319=)	BRAF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +5 more	GUncertain significance
Select item 3594402	NM_004333.6(BRAF):c.980G>A (p.Gly327Glu)	BRAF (G239E +4 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +5 more	GUncertain significance
Select item 3594401	NM_004333.6(BRAF):c.1204C>T (p.Pro402Ser)	BRAF (P314S +5 more)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 1 +5 more	GUncertain significance
Select item 3594399	NM_004333.6(BRAF):c.1346A>G (p.Asp449Gly)	BRAF (D361G +7 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +5 more	GUncertain significance
Select item 3594398	NM_004333.6(BRAF):c.1558T>G (p.Ser520Ala)	BRAF (S432A +7 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +5 more	GUncertain significance
Select item 3594396	NM_004333.6(BRAF):c.1627A>G (p.Ile543Val)	BRAF (I491V +7 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +6 more	GUncertain significance
Select item 3594395	NM_004333.6(BRAF):c.2035A>T (p.Ser679Cys)	BRAF (S657C +7 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +5 more	GUncertain significance
Select item 3594394	NM_004333.6(BRAF):c.2046G>A (p.Arg682=)	BRAF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +5 more	GUncertain significance
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 3481744	NM_004333.6(BRAF):c.45C>T (p.Gly15=)	BRAF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +7 more	GConflicting classifications of pathogenicity
Select item 2989540	NM_004333.6(BRAF):c.22G>T (p.Gly8Cys)	BRAF (G8C)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +6 more	GUncertain significance
Select item 2977730	NM_004333.6(BRAF):c.1365G>T (p.Gly455=)	BRAF	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +6 more	GConflicting classifications of pathogenicity
Select item 2893764	NM_004333.6(BRAF):c.1314+14A>G	BRAF	Single nucleotide variant (intron variant)	RASopathy +6 more	GLikely benign
Select item 2884207	NM_004333.6(BRAF):c.2039A>G (p.Lys680Arg)	BRAF (K628R +7 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +6 more	GUncertain significance
Select item 2864104	NM_004333.6(BRAF):c.679T>A (p.Leu227Met)	BRAF (L139M +4 more)	Single nucleotide variant (missense variant)	RASopathy +6 more	GUncertain significance
Select item 2722508	NM_004333.6(BRAF):c.1433-11T>A	BRAF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +6 more	GConflicting classifications of pathogenicity
Select item 2488442	NM_004333.6(BRAF):c.2127+4A>G	BRAF	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 2167103	NM_004333.6(BRAF):c.505-20A>G	BRAF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +6 more	GConflicting classifications of pathogenicity
Select item 2144719	NM_004333.6(BRAF):c.1178-3T>C	BRAF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +6 more	GUncertain significance
Select item 2061608	NM_004333.6(BRAF):c.2075T>C (p.Leu692Ser)	BRAF (L655S +7 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1947679	NM_004333.6(BRAF):c.366TTC[1] (p.Ser127del)	BRAF (S127del +2 more)	Microsatellite (inframe_deletion +1 more)	Melanoma, cutaneous malignant, susceptibility to, 1 +6 more	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 1710942	NM_004333.6(BRAF):c.66C>G (p.Asp22Glu)	BRAF (D22E)	Single nucleotide variant (missense variant)	Noonan syndrome 7	GUncertain significance
Select item 1699096	NM_004333.6(BRAF):c.1714A>G (p.Ile572Val)	BRAF (I484V +7 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1691521	NM_004333.6(BRAF):c.1858A>G (p.Met620Val)	BRAF (M532V +7 more)	Single nucleotide variant (missense variant)	Noonan syndrome 7	GUncertain significance
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)	Cardiovascular phenotype +8 more	GLikely benign
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 1569131	NM_004333.6(BRAF):c.298T>C (p.Leu100=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 1 +7 more	GLikely benign
Select item 1554615	NM_004333.6(BRAF):c.1992+15C>T	BRAF	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +7 more	GLikely benign
Select item 1545692	NM_004333.6(BRAF):c.2128-27_2128-19del	BRAF	Deletion (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +7 more	GLikely benign
Select item 1478309	NM_004333.6(BRAF):c.124G>T (p.Ala42Ser)	BRAF (A42S)	Single nucleotide variant (missense variant)	RASopathy +7 more	GUncertain significance
Select item 1445848	NM_004333.6(BRAF):c.26G>C (p.Gly9Ala)	BRAF (G9A)	Single nucleotide variant (missense variant)	RASopathy +8 more	GUncertain significance
Select item 1410272	NM_004333.6(BRAF):c.2140A>G (p.Ile714Val)	BRAF (I662V +7 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +7 more	GUncertain significance
Select item 1344958	NM_004333.6(BRAF):c.1368G>A (p.Gln456=)	BRAF	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GLikely benign
Select item 1339665	NM_004333.6(BRAF):c.1690A>G (p.Met564Val)	BRAF (M476V +7 more)	Single nucleotide variant (missense variant)	RASopathy +8 more	GConflicting classifications of pathogenicity
Select item 1334201	NM_004333.6(BRAF):c.2128-10_2128-9insC	BRAF	Insertion (intron variant)	Noonan syndrome and Noonan-related syndrome +8 more	GBenign/Likely benign
Select item 1324583	NM_004333.6(BRAF):c.823G>A (p.Glu275Lys)	BRAF (E187K +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 1320770	NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln)	BRAF, LOC126860202 (R266Q +4 more)	Single nucleotide variant (missense variant)	RASopathy +8 more	GUncertain significance
Select item 1319116	NM_004333.6(BRAF):c.1897T>C (p.Tyr633His)	BRAF (Y545H +7 more)	Single nucleotide variant (missense variant)	RASopathy +7 more	GUncertain significance
Select item 1318788	NM_004333.6(BRAF):c.52C>G (p.Leu18Val)	BRAF (L18V)	Single nucleotide variant (missense variant)	RASopathy +8 more	GConflicting classifications of pathogenicity
Select item 1219871	NM_004333.6(BRAF):c.260G>A (p.Ser87Asn)	BRAF (S35N +2 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +7 more	GUncertain significance
Select item 1205197	NM_004333.6(BRAF):c.1993-11T>C	BRAF	Single nucleotide variant (intron variant)	RASopathy +9 more	GLikely 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 1147384	NM_004333.6(BRAF):c.1719C>A (p.Ile573=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy +7 more	GLikely benign
Select item 1130636	NM_004333.6(BRAF):c.1797A>G (p.Thr599=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy +7 more	GConflicting classifications of pathogenicity
Select item 1091347	NM_004333.6(BRAF):c.915G>A (p.Ala305=)	BRAF	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 1050230	NM_004333.6(BRAF):c.1789C>T (p.Leu597=)	BRAF	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 1047782	NM_004333.6(BRAF):c.112G>C (p.Ala38Pro)	BRAF (A38P)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 1045552	NM_004333.6(BRAF):c.1133A>G (p.Asn378Ser)	LOC126860202, BRAF (N344S +4 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +6 more	GUncertain significance
Select item 1021694	NM_004333.6(BRAF):c.1331G>A (p.Arg444Gln)	BRAF (R356Q +7 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +6 more	GUncertain significance
Select item 945231	NM_004333.6(BRAF):c.1699T>G (p.Leu567Val)	BRAF (L545V +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 910632	NM_004333.6(BRAF):c.-56C>T	BRAF, LOC129999507	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome 7 +2 more	GUncertain significance
Select item 910631	NM_004333.6(BRAF):c.-12C>T	BRAF	Single nucleotide variant (5 prime UTR variant)	LEOPARD syndrome 3 +1 more	GUncertain significance
Select item 910577	NM_004333.6(BRAF):c.1056T>A (p.Asp352Glu)	BRAF, LOC126860202 (D318E +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome +3 more	GUncertain significance
Select item 910576	NM_004333.6(BRAF):c.1066C>G (p.Gln356Glu)	BRAF, LOC126860202 (Q268E +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome 7 +1 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 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 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 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 909644	NM_004333.6(BRAF):c.1569A>G (p.Pro523=)	BRAF	Single nucleotide variant (synonymous variant)	Noonan syndrome 7 +3 more	GConflicting classifications of pathogenicity
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 908852	NM_004333.6(BRAF):c.563G>C (p.Arg188Thr)	BRAF (R136T +3 more)	Single nucleotide variant (missense variant)	Noonan syndrome 7 +1 more	GUncertain significance
Select item 908790	NM_004333.6(BRAF):c.1943A>G (p.Glu648Gly)	BRAF (E611G +7 more)	Single nucleotide variant (missense variant)	Noonan syndrome 7 +1 more	GUncertain significance
Select item 839799	NM_004333.6(BRAF):c.958G>A (p.Ala320Thr)	BRAF (A268T +4 more)	Single nucleotide variant (missense variant)	RASopathy +6 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)	Noonan syndrome and Noonan-related syndrome +10 more	GUncertain significance
Select item 666569	NM_004333.6(BRAF):c.1592G>C (p.Trp531Ser)	BRAF (W531S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 7	GPathogenic
Select item 633085	NM_004333.6(BRAF):c.995C>T (p.Thr332Ile)	BRAF, LOC126860202 (T332I +4 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 587514	NM_004333.6(BRAF):c.1387A>G (p.Ile463Val)	BRAF (I463V +7 more)	Single nucleotide variant (missense variant)	Noonan syndrome 7 +1 more	GConflicting classifications of pathogenicity
Select item 561862	NM_004333.6(BRAF):c.1694+13C>T	BRAF	Single nucleotide variant (intron variant)	RASopathy +8 more	GLikely benign
Select item 561797	NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys)	BRAF (Y647C +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1 +6 more	GUncertain significance
Select item 543985	NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp)	BRAF (G397D +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +3 more	GUncertain significance
Select item 514636	NM_004333.6(BRAF):c.504+19C>T	BRAF	Single nucleotide variant (intron variant)	not specified +8 more	GBenign/Likely benign
Select item 512959	NM_004333.6(BRAF):c.1023A>G (p.Pro341=)	BRAF, LOC126860202	Single nucleotide variant (synonymous variant)	RASopathy +4 more	GConflicting classifications of pathogenicity
Select item 505121	NM_004333.6(BRAF):c.316G>A (p.Gly106Arg)	BRAF (G106R +2 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +4 more	GUncertain significance
Select item 503529	NM_004333.6(BRAF):c.469G>A (p.Val157Ile)	BRAF (V157I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 500454	NM_004333.6(BRAF):c.1207C>G (p.Pro403Ala)	BRAF (P403A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 496227	NM_004333.6(BRAF):c.206G>C (p.Gly69Ala)	BRAF (G69A +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +7 more	GUncertain significance
Select item 429447	NM_004333.6(BRAF):c.254A>G (p.Tyr85Cys)	BRAF (Y85C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 426508	NM_004333.6(BRAF):c.517T>C (p.Cys173Arg)	BRAF (C173R +3 more)	Single nucleotide variant (missense variant)	not provided +7 more	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 392213	NM_004333.6(BRAF):c.1314+17T>C	BRAF	Single nucleotide variant (intron variant)	not provided +8 more	GLikely benign
Select item 380268	NM_004333.6(BRAF):c.1860+16A>G	BRAF	Single nucleotide variant (intron variant)	not specified +9 more	GBenign/Likely benign
Select item 376073	NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu)	BRAF (G466E +7 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 372627	NM_004333.6(BRAF):c.1166G>A (p.Arg389His)	BRAF (R389H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GUncertain significance
Select item 372564	NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)	BRAF (R146Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 359049	NM_004333.6(BRAF):c.981-14C>A	BRAF, LOC126860202	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 359048	NM_004333.6(BRAF):c.1024A>G (p.Ile342Val)	BRAF, LOC126860202 (I342V +4 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significanceFDA 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 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 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 282044	NM_004333.6(BRAF):c.113C>T (p.Ala38Val)	BRAF (A38V)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 222077	NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro)	BRAF (L525P +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 180784	NM_004333.6(BRAF):c.739T>C (p.Phe247Leu)	BRAF (F247L +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenicFDA Recognized database

<< First< Prev

Page of 2