673[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1364

<< First< Prev

Page of 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 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	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 149007	GRCh38/hg38 7q34(chr7:140705035-140843105)x3	BRAF, LOC126860202 +4 more	Copy number gain	See cases	GUncertain significance
Select item 2499057	NM_001374258.1(BRAF):c.*124C>T	BRAF	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely 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 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)	Noonan syndrome 7 +1 more	GUncertain significance
Select item 910514	NM_004333.6(BRAF):c.*143A>G	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 7 +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)	LEOPARD syndrome 3 +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 benign FDA Recognized database
Select item 359043	NM_004333.6(BRAF):c.*3C>T	BRAF	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 3 +1 more	GUncertain significance
Select item 3338721	NM_004333.6(BRAF):c.2301A>G (p.Ter767Trp)	BRAF	Single nucleotide variant (stop lost +1 more)	not provided	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)	RASopathy	GUncertain significance
Select item 1697101	NM_004333.6(BRAF):c.2291C>T (p.Pro764Leu)	BRAF (P712L +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +1 more	GUncertain significance
Select item 2658023	NM_004333.6(BRAF):c.2290C>T (p.Pro764Ser)	BRAF (P712S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 2115455	NM_004333.6(BRAF):c.2271A>T (p.Ala757=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	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 422080	NM_004333.6(BRAF):c.2264_2265delinsGT (p.Ile755Ser)	BRAF (I755S +7 more)	Indel (missense variant +1 more)	not provided	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	GBenign FDA 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	GUncertain significance
Select item 44824	NM_004333.6(BRAF):c.2229T>C (p.Phe743=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 379609	NM_004333.6(BRAF):c.2224G>A (p.Asp742Asn)	BRAF (D742N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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)	LEOPARD syndrome 3 +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 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 981546	NM_004333.6(BRAF):c.2161T>G (p.Leu721Val)	BRAF (L633V +7 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GUncertain significance
Select item 1563157	NM_004333.6(BRAF):c.2160A>G (p.Ser720=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	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)	not provided +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 477688	NM_004333.6(BRAF):c.2142T>C (p.Ile714=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
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 44823	NM_004333.6(BRAF):c.2136C>T (p.Ala712=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +10 more	GBenign/Likely benign
Select item 561693	NM_004333.6(BRAF):c.2135C>T (p.Ala712Val)	BRAF (A712V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 162795	NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)	BRAF (A712D +7 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 7 +8 more	GPathogenic/Likely pathogenic
Select item 2199937	NM_004333.6(BRAF):c.2134G>T (p.Ala712Ser)	BRAF (A690S +7 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 802373	NM_004333.6(BRAF):c.2134G>A (p.Ala712Thr)	BRAF (A752T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1567261	NM_004333.6(BRAF):c.2133C>T (p.Leu711=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 3343956	NM_004333.6(BRAF):c.2132T>C (p.Leu711Pro)	BRAF (L623P +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 430737	NM_004333.6(BRAF):c.2128-4_2129del	BRAF	Deletion (intron variant +1 more)	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 591980	NM_004333.6(BRAF):c.2128-2_2128del	BRAF	Deletion (intron variant +1 more)	not provided	GUncertain significance
Select item 477687	NM_004333.6(BRAF):c.2128-6_2128-5dup	BRAF	Duplication (intron variant)	RASopathy	GLikely benign
Select item 377569	NM_004333.6(BRAF):c.2128-4G>T	BRAF	Single nucleotide variant (intron variant)	RASopathy +3 more	GBenign/Likely benign
Select item 359044	NM_004333.6(BRAF):c.2128-4del	BRAF	Deletion (intron variant)	Cardio-facio-cutaneous syndrome +2 more	GUncertain significance
Select item 44820	NM_004333.6(BRAF):c.2128-5dup	BRAF	Duplication (intron variant)	Cardio-facio-cutaneous syndrome +5 more	GConflicting classifications of pathogenicity
Select item 3058009	NM_004333.6(BRAF):c.2128-6_2128-5del	BRAF	Deletion (intron variant)	BRAF-related disorder	GLikely benign
Select item 3014811	NM_004333.6(BRAF):c.2128-6_2128-5insTTTTTTTTTC	BRAF	Microsatellite (intron variant)	RASopathy	GLikely benign
Select item 2906444	NM_004333.6(BRAF):c.2128-5T>C	BRAF	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 44821	NM_004333.6(BRAF):c.2128-5del	BRAF	Deletion (intron variant)	RASopathy +5 more	GBenign/Likely benign
Select item 917766	NM_004333.6(BRAF):c.2128-16_2128-6del	BRAF	Microsatellite (intron variant)	not specified	GUncertain significance
Select item 44822	NM_004333.6(BRAF):c.2128-6T>A	BRAF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 928807	NM_004333.6(BRAF):c.2128-16_2128-7del	BRAF	Deletion (intron variant)	RASopathy +3 more	GBenign/Likely benign
Select item 700562	NM_004333.6(BRAF):c.2128-27_2128-7del	BRAF	Deletion (intron 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 1334201	NM_004333.6(BRAF):c.2128-10_2128-9insC	BRAF	Insertion (intron variant)	RASopathy +8 more	GBenign/Likely benign
Select item 44819	NM_004333.6(BRAF):c.2128-10T>C	BRAF	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2977169	NM_004333.6(BRAF):c.2128-13T>C	BRAF	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1547808	NM_004333.6(BRAF):c.2128-16_2128-14del	BRAF	Deletion (intron variant)	RASopathy	GLikely benign
Select item 1623147	NM_004333.6(BRAF):c.2128-16_2128-15delinsTC	BRAF	Indel (intron variant)	not specified +1 more	GLikely benign
Select item 1198981	NM_004333.6(BRAF):c.2128-15T>C	BRAF	Single nucleotide variant (intron variant)	RASopathy +1 more	GLikely benign
Select item 359045	NM_004333.6(BRAF):c.2128-16_2128-15del	BRAF	Deletion (intron variant)	Cardio-facio-cutaneous syndrome +2 more	GUncertain significance
Select item 992268	NM_004333.6(BRAF):c.2128-16delinsTCT	BRAF	Indel (intron variant)	not specified	GBenign
Select item 928806	NM_004333.6(BRAF):c.2128-16del	BRAF	Deletion (intron variant)	not specified	GBenign
Select item 928540	NM_004333.6(BRAF):c.2128-26dup	BRAF	Duplication (intron variant)	RASopathy +1 more	GBenign
Select item 359046	NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT	BRAF	Indel (intron variant)	Cardio-facio-cutaneous syndrome +2 more	GUncertain significance
Select item 136535	NM_004333.6(BRAF):c.2128-16C>T	BRAF	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign

<< First< Prev

Page of 14