ClinVar for Gene (Select 673) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3061604	NM_004333.6(BRAF):c.1611G>A (p.Leu537=)	BRAF	Single nucleotide variant (synonymous variant)	BRAF-related condition	GLikely benign
Select item 3058009	NM_004333.6(BRAF):c.2128-6_2128-5del	BRAF	Deletion (intron variant)	BRAF-related condition	GLikely benign
Select item 3055974	NM_004333.6(BRAF):c.-10C>G	BRAF	Single nucleotide variant (5 prime UTR variant)	BRAF-related condition	GLikely benign
Select item 3037071	NM_004333.6(BRAF):c.27T>C (p.Gly9=)	BRAF	Single nucleotide variant (synonymous variant)	BRAF-related condition	GLikely benign
Select item 3037001	NM_004333.6(BRAF):c.18T>C (p.Gly6=)	BRAF	Single nucleotide variant (synonymous variant)	BRAF-related condition	GLikely benign
Select item 3036233	NM_004333.6(BRAF):c.24T>C (p.Gly8=)	BRAF	Single nucleotide variant (synonymous variant)	BRAF-related condition	GLikely benign
Select item 3035362	NM_004333.6(BRAF):c.459A>T (p.Gln153His)	BRAF (Q101H +2 more)	Single nucleotide variant (missense variant +1 more)	BRAF-related condition	GUncertain significance
Select item 3027033	NM_004333.6(BRAF):c.1723A>G (p.Arg575Gly)	BRAF (R487G +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025593	NM_004333.6(BRAF):c.1178-1791C>T	BRAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3024642	GRCh37/hg19 7q34(chr7:140426294-141883173)x1	AGK, BRAF +13 more	Copy number loss	not provided	GPathogenic
Select item 3024375	GRCh38/hg38 7q34(chr7:140901060-141011481)	BRAF, LOC129999507 +1 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3023528	NM_004333.6(BRAF):c.1993A>G (p.Ile665Val)	BRAF (I613V +7 more)	Single nucleotide variant (missense variant)	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 3020447	NM_004333.6(BRAF):c.88G>A (p.Gly30Ser)	BRAF (G30S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3017437	NM_004333.6(BRAF):c.981-16G>C	BRAF, LOC126860202	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3016301	NM_004333.6(BRAF):c.1993-20C>A	BRAF	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3014811	NM_004333.6(BRAF):c.2128-6_2128-5insTTTTTTTTTC	BRAF	Microsatellite (intron variant)	RASopathy	GLikely benign
Select item 3014457	NM_004333.6(BRAF):c.1264C>T (p.Pro422Ser)	BRAF (P385S +7 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3013391	NM_004333.6(BRAF):c.279A>T (p.Gln93His)	BRAF (Q41H +2 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 3005032	NM_004333.6(BRAF):c.1617C>T (p.His539=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3003504	NM_004333.6(BRAF):c.1077A>G (p.Gln359=)	BRAF, LOC126860202	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3002119	NM_004333.6(BRAF):c.1860+5G>A	BRAF	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 3001439	NM_004333.6(BRAF):c.1861-18C>G	BRAF	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2996554	NM_004333.6(BRAF):c.1028C>T (p.Pro343Leu)	BRAF, LOC126860202 (P255L +4 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2989540	NM_004333.6(BRAF):c.22G>T (p.Gly8Cys)	BRAF (G8C)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2985251	NM_004333.6(BRAF):c.240+2T>C	BRAF	Single nucleotide variant (splice donor variant +1 more)	RASopathy	GUncertain significance
Select item 2979465	NM_004333.6(BRAF):c.816T>C (p.Cys272=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2977730	NM_004333.6(BRAF):c.1365G>T (p.Gly455=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2977169	NM_004333.6(BRAF):c.2128-13T>C	BRAF	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2975584	NM_004333.6(BRAF):c.57C>T (p.Phe19=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2972569	NM_004333.6(BRAF):c.1518-15C>T	BRAF	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2966177	NM_004333.6(BRAF):c.1945T>C (p.Leu649=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2962970	NM_004333.6(BRAF):c.1741+17T>C	BRAF	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2959827	NM_004333.6(BRAF):c.126C>G (p.Ala42=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2917295	NM_004333.6(BRAF):c.1517+6C>T	BRAF	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2916440	NM_004333.6(BRAF):c.1314+10T>C	BRAF	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2911205	NM_004333.6(BRAF):c.1177+13T>C	BRAF	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2911115	NM_004333.6(BRAF):c.345A>G (p.Ala115=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2909000	NM_004333.6(BRAF):c.1932T>C (p.Ile644=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 2908485	NM_004333.6(BRAF):c.80_88del (p.Ala27_Ala29del)	BRAF	Deletion (inframe_deletion)	RASopathy	GUncertain significance
Select item 2908214	NM_004333.6(BRAF):c.1861-3C>T	BRAF	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2907375	NM_004333.6(BRAF):c.241-13C>T	BRAF	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2906444	NM_004333.6(BRAF):c.2128-5T>C	BRAF	Single nucleotide variant (intron variant)	RASopathy +1 more	GLikely benign
Select item 2905533	NM_004333.6(BRAF):c.589G>C (p.Val197Leu)	BRAF (V109L +3 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2904681	NM_004333.6(BRAF):c.620C>T (p.Pro207Leu)	BRAF (P173L +4 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2904050	NM_004333.6(BRAF):c.1021C>G (p.Pro341Ala)	BRAF, LOC126860202 (P253A +4 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
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 2901547	NM_004333.6(BRAF):c.516G>A (p.Arg172=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2899511	NM_004333.6(BRAF):c.2128-27_2128-8del	BRAF	Deletion (intron variant)	RASopathy	GUncertain significance
Select item 2898539	NM_004333.6(BRAF):c.1141-18A>G	BRAF	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2897914	NM_004333.6(BRAF):c.811C>T (p.Arg271Cys)	BRAF (R183C +4 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2895386	NM_004333.6(BRAF):c.980+4T>C	BRAF	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2895283	NM_004333.6(BRAF):c.1920T>C (p.Tyr640=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2894804	NM_004333.6(BRAF):c.712-18_712-17del	BRAF	Microsatellite (intron variant)	RASopathy	GLikely benign
Select item 2893764	NM_004333.6(BRAF):c.1314+14A>G	BRAF	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2893533	NM_004333.6(BRAF):c.1431T>C (p.His477=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GUncertain significance
Select item 2891586	NM_004333.6(BRAF):c.626G>A (p.Gly209Asp)	BRAF (G209D +4 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2891570	NM_004333.6(BRAF):c.97G>C (p.Ala33Pro)	BRAF (A33P)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2889887	NM_004333.6(BRAF):c.504+7C>T	BRAF	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2885104	NM_004333.6(BRAF):c.249A>G (p.Glu83=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2884207	NM_004333.6(BRAF):c.2039A>G (p.Lys680Arg)	BRAF (K628R +7 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2883341	NM_004333.6(BRAF):c.416A>G (p.Gln139Arg)	BRAF (Q105R +2 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2883285	NM_004333.6(BRAF):c.94G>A (p.Gly32Ser)	BRAF (G32S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2880133	NM_004333.6(BRAF):c.242C>T (p.Ala81Val)	BRAF (A81V +2 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2868292	NM_004333.6(BRAF):c.104C>A (p.Ala35Asp)	BRAF (A35D)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2868264	NM_004333.6(BRAF):c.1741+19G>T	BRAF	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2867973	NM_004333.6(BRAF):c.1029A>G (p.Pro343=)	BRAF, LOC126860202	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2866122	NM_004333.6(BRAF):c.1936C>G (p.Leu646Val)	BRAF (L594V +7 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2864186	NM_004333.6(BRAF):c.187G>A (p.Ala63Thr)	BRAF (A11T +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2864104	NM_004333.6(BRAF):c.679T>A (p.Leu227Met)	BRAF (L139M +4 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2862009	NM_004333.6(BRAF):c.2084A>G (p.Glu695Gly)	BRAF (E661G +7 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2858949	NM_004333.6(BRAF):c.651T>C (p.Leu217=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2857146	NM_004333.6(BRAF):c.933C>A (p.Ala311=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2855758	NM_004333.6(BRAF):c.531C>T (p.Val177=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2854771	NM_004333.6(BRAF):c.1986G>A (p.Arg662=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2853562	NM_004333.6(BRAF):c.1177+15C>A	BRAF	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2853200	NM_004333.6(BRAF):c.1630A>G (p.Ile544Val)	BRAF (I507V +7 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2852878	NM_004333.6(BRAF):c.88G>T (p.Gly30Cys)	BRAF (G30C)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2850459	NM_004333.6(BRAF):c.694C>G (p.Leu232Val)	BRAF (L180V +4 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2848244	NM_004333.6(BRAF):c.579G>A (p.Glu193=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2844800	NM_004333.6(BRAF):c.972C>T (p.Asp324=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2840632	NM_004333.6(BRAF):c.649C>T (p.Leu217Phe)	BRAF (L220F +4 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2838678	NM_004333.6(BRAF):c.1392A>G (p.Gly464=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2836059	NM_004333.6(BRAF):c.138+4A>G	BRAF	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2833692	NM_004333.6(BRAF):c.291A>G (p.Gln97=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2833434	NM_004333.6(BRAF):c.898A>C (p.Ile300Leu)	BRAF (I300L +4 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2831641	NM_004333.6(BRAF):c.2070G>A (p.Lys690=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2827234	NM_004333.6(BRAF):c.221C>T (p.Pro74Leu)	BRAF (P22L +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2818265	NM_004333.6(BRAF):c.1800G>C (p.Val600=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2817914	NM_004333.6(BRAF):c.509C>T (p.Pro170Leu)	BRAF (P136L +3 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2817845	NM_004333.6(BRAF):c.1980C>G (p.Asn660Lys)	BRAF (N572K +7 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2815413	NM_004333.6(BRAF):c.30C>T (p.Gly10=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2805839	NM_004333.6(BRAF):c.205G>A (p.Gly69Ser)	BRAF (G69S +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2803807	NM_004333.6(BRAF):c.32G>C (p.Gly11Ala)	BRAF (G11A)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2803240	NM_004333.6(BRAF):c.915G>T (p.Ala305=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2800784	NM_004333.6(BRAF):c.1354A>C (p.Ile452Leu)	BRAF (I430L +7 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2798545	NM_004333.6(BRAF):c.1864C>T (p.Pro622Ser)	BRAF (P588S +7 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2795673	NM_004333.6(BRAF):c.1742A>T (p.Asn581Ile)	BRAF (N584I +7 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2785118	NM_004333.6(BRAF):c.557T>A (p.Met186Lys)	BRAF (M152K +3 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance

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