ClinVar for Gene (Select 7862) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384083	NM_001003694.2(BRPF1):c.2345_2346del (p.Asn782fs)	BRPF1 (N775fs +3 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 3383529	NM_001003694.2(BRPF1):c.52A>G (p.Lys18Glu)	BRPF1 (K18E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375837	NM_001003694.2(BRPF1):c.304G>C (p.Asp102His)	BRPF1 (D102H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373492	NM_001003694.2(BRPF1):c.2956C>A (p.Pro986Thr)	BRPF1 (P885T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373155	NM_001003694.2(BRPF1):c.3247G>C (p.Glu1083Gln)	BRPF1 (E1076Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372878	NM_001003694.2(BRPF1):c.1447G>C (p.Val483Leu)	BRPF1 (V483L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372455	NM_001003694.2(BRPF1):c.1918A>G (p.Thr640Ala)	BRPF1 (T640A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372315	NM_001003694.2(BRPF1):c.3589G>A (p.Ala1197Thr)	BRPF1 (A1096T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371182	NM_001003694.2(BRPF1):c.1451A>T (p.Lys484Met)	BRPF1 (K484M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370243	NM_001003694.2(BRPF1):c.647A>C (p.Asp216Ala)	BRPF1 (D216A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370186	NM_001003694.2(BRPF1):c.3137G>A (p.Ser1046Asn)	BRPF1 (S1039N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370121	NM_001003694.2(BRPF1):c.784A>C (p.Asn262His)	BRPF1 (N262H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369945	NM_001003694.2(BRPF1):c.3631G>A (p.Glu1211Lys)	BRPF1 (E1110K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367939	NM_001003694.2(BRPF1):c.1054G>T (p.Val352Leu)	BRPF1 (V352L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367855	NM_001003694.2(BRPF1):c.2212G>T (p.Ala738Ser)	BRPF1 (A732S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365660	NM_001003694.2(BRPF1):c.1404_1421dup (p.Glu474_Gly475insAspGluGluGluAspGlu)	BRPF1	Duplication (non-coding transcript variant)	not provided	GUncertain significance
Select item 3364525	NM_001003694.2(BRPF1):c.1055T>C (p.Val352Ala)	BRPF1 (V352A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363484	NM_001003694.2(BRPF1):c.2089GAT[1] (p.Asp698del)	BRPF1 (D692del +1 more)	Microsatellite (non-coding transcript variant)	not provided	GUncertain significance
Select item 3363321	NM_001003694.2(BRPF1):c.3330T>G (p.Ile1110Met)	BRPF1 (I1009M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362085	NM_001003694.2(BRPF1):c.590C>T (p.Ser197Phe)	BRPF1 (S197F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361635	NM_001003694.2(BRPF1):c.3554G>A (p.Gly1185Asp)	BRPF1 (G1084D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361070	NM_001003694.2(BRPF1):c.1553C>T (p.Pro518Leu)	BRPF1 (P518L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360436	NM_001003694.2(BRPF1):c.677A>G (p.Asp226Gly)	BRPF1 (D226G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360019	NM_001003694.2(BRPF1):c.29T>C (p.Phe10Ser)	BRPF1 (F10S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359838	NM_001003694.2(BRPF1):c.1783C>T (p.Arg595Trp)	BRPF1 (R595W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3354149	NM_001003694.2(BRPF1):c.197G>A (p.Arg66His)	BRPF1 (R66H)	Single nucleotide variant (missense variant +1 more)	BRPF1-related disorder	GUncertain significance
Select item 3348075	NM_001003694.2(BRPF1):c.3205+3A>G	BRPF1	Single nucleotide variant (intron variant)	BRPF1-related disorder	GLikely benign
Select item 3347244	NM_001003694.2(BRPF1):c.3247G>A (p.Glu1083Lys)	BRPF1 (E1076K +4 more)	Single nucleotide variant (missense variant +1 more)	BRPF1-related disorder	GUncertain significance
Select item 3344629	NM_001003694.2(BRPF1):c.122A>C (p.His41Pro)	BRPF1 (H41P)	Single nucleotide variant (missense variant +1 more)	BRPF1-related disorder	GUncertain significance
Select item 3343955	NM_001003694.2(BRPF1):c.85C>T (p.Arg29Ter)	BRPF1 (R29*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3343071	NM_001003694.2(BRPF1):c.3324+5G>A	BRPF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3342171	NM_001003694.2(BRPF1):c.1915A>G (p.Lys639Glu)	BRPF1 (K639E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3337872	NM_001003694.2(BRPF1):c.453T>G (p.His151Gln)	BRPF1 (H151Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3261861	NM_001003694.2(BRPF1):c.2150A>G (p.Asp717Gly)	BRPF1 (D717G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3261860	NM_001003694.2(BRPF1):c.2393G>A (p.Arg798Gln)	BRPF1 (R791Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3261858	NM_001003694.2(BRPF1):c.1428G>C (p.Lys476Asn)	BRPF1 (K476N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3261857	NM_001003694.2(BRPF1):c.2057A>G (p.Gln686Arg)	BRPF1 (Q686R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3261856	NM_001003694.2(BRPF1):c.2423G>A (p.Ser808Asn)	BRPF1 (S807N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3261855	NM_001003694.2(BRPF1):c.208C>T (p.Pro70Ser)	BRPF1 (P70S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3254719	NM_001003694.2(BRPF1):c.396del (p.Asn132fs)	BRPF1 (N132fs)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 3254718	NM_001003694.2(BRPF1):c.2362G>A (p.Val788Met)	BRPF1 (V781M +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 3250967	NM_001003694.2(BRPF1):c.3218G>T (p.Ser1073Ile)	BRPF1 (S1066I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3250913	NM_001003694.2(BRPF1):c.1129A>G (p.Ile377Val)	BRPF1 (I377V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3250857	NM_001003694.2(BRPF1):c.2480G>A (p.Arg827Gln)	BRPF1 (R820Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3246963	NC_000003.11:g.(?_9470623)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +29 more	Duplication	not provided	GUncertain significance
Select item 3246936	NC_000003.11:g.(?_9703931)_(11078652_?)del	GHRLOS, IL17RC +27 more	Deletion	Myoclonic-atonic epilepsy	GPathogenic
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3242190	NM_001003694.2(BRPF1):c.282G>T (p.Gln94His)	BRPF1 (Q94H)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 3236572	NM_001003694.2(BRPF1):c.491dup (p.His164fs)	BRPF1 (H164fs)	Duplication (frameshift variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 3235866	NM_001003694.2(BRPF1):c.3069-3C>T	BRPF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3135119	NM_001003694.2(BRPF1):c.785A>G (p.Asn262Ser)	BRPF1 (N262S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3135118	NM_001003694.2(BRPF1):c.770A>G (p.Tyr257Cys)	BRPF1 (Y257C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3135117	NM_001003694.2(BRPF1):c.659A>C (p.Glu220Ala)	BRPF1 (E220A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3135116	NM_001003694.2(BRPF1):c.492C>G (p.His164Gln)	BRPF1 (H164Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3135115	NM_001003694.2(BRPF1):c.3479+3_3479+5del	BRPF1	Deletion (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3135113	NM_001003694.2(BRPF1):c.2843G>A (p.Arg948His)	BRPF1 (R942H +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3135112	NM_001003694.2(BRPF1):c.2810C>T (p.Pro937Leu)	BRPF1 (P931L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3135110	NM_001003694.2(BRPF1):c.2072dup (p.Tyr691Ter)	BRPF1 (Y685* +1 more)	Duplication (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 3135109	NM_001003694.2(BRPF1):c.1990G>C (p.Glu664Gln)	BRPF1 (E664Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3135108	NM_001003694.2(BRPF1):c.1520C>T (p.Ala507Val)	BRPF1 (A507V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3135107	NM_001003694.2(BRPF1):c.1472G>A (p.Arg491Gln)	BRPF1 (R491Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068239	NM_001003694.2(BRPF1):c.1181C>T (p.Ser394Leu)	BRPF1 (S394L)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 3067542	NM_001003694.2(BRPF1):c.924C>T (p.Pro308=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3066369	NM_001003694.2(BRPF1):c.2004_2005del (p.Val668_Pro669insTer)	BRPF1	Deletion (frameshift variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely pathogenic
Select item 3065503	NM_001003694.2(BRPF1):c.694C>T (p.Arg232Trp)	BRPF1 (R232W)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 3065361	NM_001003694.2(BRPF1):c.2111A>G (p.Asn704Ser)	BRPF1 (N698S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3064549	NM_001003694.2(BRPF1):c.196C>T (p.Arg66Cys)	BRPF1 (R66C)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely benign
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 3057681	NM_001003694.2(BRPF1):c.1182A>G (p.Ser394=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	BRPF1-related disorder	GLikely benign
Select item 3057591	NM_001003694.2(BRPF1):c.333C>T (p.Ser111=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	BRPF1-related disorder	GLikely benign
Select item 3057358	NM_001003694.2(BRPF1):c.780T>C (p.Ser260=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	BRPF1-related disorder	GLikely benign
Select item 3057356	NM_001003694.2(BRPF1):c.3018C>T (p.Asp1006=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	BRPF1-related disorder	GLikely benign
Select item 3056900	NM_001003694.2(BRPF1):c.1812C>T (p.Leu604=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	BRPF1-related disorder	GBenign
Select item 3051507	NM_001003694.2(BRPF1):c.3206-4G>A	BRPF1	Single nucleotide variant (intron variant)	BRPF1-related disorder	GLikely benign
Select item 3046072	NM_001003694.2(BRPF1):c.3540G>A (p.Glu1180=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	BRPF1-related disorder	GBenign
Select item 3045981	NM_001003694.2(BRPF1):c.1419T>G (p.Asp473Glu)	BRPF1 (D473E)	Single nucleotide variant (missense variant +1 more)	BRPF1-related disorder	GLikely benign
Select item 3044281	NM_001003694.2(BRPF1):c.3069-5C>T	BRPF1	Single nucleotide variant (intron variant)	BRPF1-related disorder	GLikely benign
Select item 3040369	NM_001003694.2(BRPF1):c.1855-7A>G	BRPF1	Single nucleotide variant (intron variant)	BRPF1-related disorder	GLikely benign
Select item 3027367	NM_001003694.2(BRPF1):c.1559+1G>A	BRPF1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3026575	NM_001003694.2(BRPF1):c.373G>A (p.Ala125Thr)	BRPF1 (A125T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026458	NM_001003694.2(BRPF1):c.332G>A (p.Ser111Asn)	BRPF1 (S111N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025637	NM_001003694.2(BRPF1):c.1170A>G (p.Lys390=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025169	NM_001003694.2(BRPF1):c.3135C>T (p.Ser1045=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024347	NM_001003694.2(BRPF1):c.2844dup (p.Lys949fs)	BRPF1 (K942fs +3 more)	Duplication (frameshift variant +2 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 3024312	NM_001003694.2(BRPF1):c.1612C>T (p.Gln538Ter)	BRPF1 (Q538*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely pathogenic
Select item 2701933	NM_001003694.2(BRPF1):c.808G>A (p.Val270Met)	BRPF1 (V270M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2692544	NM_001003694.2(BRPF1):c.1255C>A (p.Leu419Ile)	BRPF1 (L419I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2691446	NM_001003694.2(BRPF1):c.316C>T (p.Arg106Cys)	BRPF1 (R106C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2691274	NM_001003694.2(BRPF1):c.940C>T (p.Gln314Ter)	BRPF1 (Q314*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 2685906	GRCh37/hg19 3p25.3(chr3:9655252-10332544)x3	ARPC4, ARPC4-TTLL3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2672926	NM_001003694.2(BRPF1):c.2046C>T (p.Phe682=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2672925	NM_001003694.2(BRPF1):c.328A>G (p.Ile110Val)	BRPF1 (I110V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2672220	NM_001003694.2(BRPF1):c.2545_2566dup (p.Ala856delinsGlyTer)	BRPF1	Duplication (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2664608	NM_001003694.2(BRPF1):c.260G>A (p.Arg87His)	BRPF1 (R87H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663629	NM_001003694.2(BRPF1):c.1240G>A (p.Ala414Thr)	BRPF1 (A414T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663583	NM_001003694.2(BRPF1):c.3112C>T (p.Arg1038Trp)	BRPF1 (R1031W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663320	NM_001003694.2(BRPF1):c.655G>A (p.Glu219Lys)	BRPF1 (E219K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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