ClinVar for Gene (Select 7862) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Intellectual developmental disorder with dysmorphic facies and ptosis	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 (intron 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
Select item 2653499	NM_001003694.2(BRPF1):c.3537G>A (p.Lys1179=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653498	NM_001003694.2(BRPF1):c.3489G>A (p.Leu1163=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653497	NM_001003694.2(BRPF1):c.3370G>A (p.Val1124Ile)	BRPF1 (V1023I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2653496	NM_001003694.2(BRPF1):c.3190G>A (p.Gly1064Ser)	BRPF1 (G1057S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2653495	NM_001003694.2(BRPF1):c.2874G>A (p.Ser958=)	BRPF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2653494	NM_001003694.2(BRPF1):c.2763G>A (p.Arg921=)	BRPF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2653493	NM_001003694.2(BRPF1):c.2526G>T (p.Arg842=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653492	NM_001003694.2(BRPF1):c.2504C>T (p.Thr835Met)	BRPF1 (T828M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2653491	NM_001003694.2(BRPF1):c.2427G>C (p.Val809=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653490	NM_001003694.2(BRPF1):c.2165G>A (p.Arg722Gln)	BRPF1 (R716Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2653489	NM_001003694.2(BRPF1):c.1977G>T (p.Leu659=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653488	NM_001003694.2(BRPF1):c.1928A>G (p.Gln643Arg)	BRPF1 (Q643R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2653487	NM_001003694.2(BRPF1):c.1887G>C (p.Gln629His)	BRPF1 (Q629H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2653486	NM_001003694.2(BRPF1):c.1575C>G (p.Thr525=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653485	NM_001003694.2(BRPF1):c.1077G>A (p.Glu359=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653484	NM_001003694.2(BRPF1):c.660G>A (p.Glu220=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637292	NM_001003694.2(BRPF1):c.3020_3021insGA (p.Glu1008fs)	BRPF1 (E1001fs +4 more)	Insertion (frameshift variant +1 more)	BRPF1-related disorder	GLikely pathogenic
Select item 2636395	NM_001003694.2(BRPF1):c.1929G>C (p.Gln643His)	BRPF1 (Q643H)	Single nucleotide variant (missense variant +1 more)	BRPF1-related disorder	GUncertain significance
Select item 2635330	NM_001003694.2(BRPF1):c.2262dup (p.Ile755fs)	BRPF1 (I749fs +1 more)	Duplication (frameshift variant +1 more)	BRPF1-related disorder	GLikely pathogenic
Select item 2633237	NM_001003694.2(BRPF1):c.1558A>G (p.Arg520Gly)	BRPF1 (R520G)	Single nucleotide variant (missense variant +1 more)	BRPF1-related disorder	GUncertain significance
Select item 2633009	NM_001003694.2(BRPF1):c.789del (p.Gly264fs)	BRPF1 (G264fs)	Deletion (frameshift variant +1 more)	BRPF1-related disorder	GPathogenic
Select item 2632843	NM_001003694.2(BRPF1):c.1445A>C (p.Lys482Thr)	BRPF1 (K482T)	Single nucleotide variant (missense variant +1 more)	BRPF1-related disorder	GUncertain significance
Select item 2630810	NM_001003694.2(BRPF1):c.2205_2216del (p.Arg739_Ala742del)	BRPF1	Deletion (inframe_deletion +1 more)	BRPF1-related disorder	GUncertain significance
Select item 2628571	NM_001003694.2(BRPF1):c.737A>G (p.Glu246Gly)	BRPF1 (E246G)	Single nucleotide variant (missense variant +1 more)	BRPF1-related disorder	GUncertain significance
Select item 2622203	NM_001003694.2(BRPF1):c.506C>G (p.Ser169Cys)	BRPF1 (S169C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616941	NM_001003694.2(BRPF1):c.2216G>A (p.Arg739Gln)	BRPF1 (R733Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2604052	NM_001003694.2(BRPF1):c.1117A>G (p.Ser373Gly)	BRPF1 (S373G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591154	NM_001003694.2(BRPF1):c.3005G>A (p.Arg1002Gln)	BRPF1 (R901Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2584623	NM_001003694.2(BRPF1):c.2588A>C (p.Gln863Pro)	BRPF1 (Q856P +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 2582023	NM_001003694.2(BRPF1):c.3517G>A (p.Val1173Met)	BRPF1 (V1072M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2580893	GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1	ARPC4, ARPC4-TTLL3 +29 more	Copy number loss	3p- syndrome	GPathogenic
Select item 2580839	NM_001003694.2(BRPF1):c.1889T>C (p.Leu630Pro)	BRPF1 (L630P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2579869	NM_001003694.2(BRPF1):c.3539AGA[1] (p.Lys1181del)	BRPF1 (K1080del +4 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2579422	NM_001003694.2(BRPF1):c.599+5G>T	BRPF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2579406	NM_001003694.2(BRPF1):c.686A>G (p.Asn229Ser)	BRPF1 (N229S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576871	NM_001003694.2(BRPF1):c.3049G>A (p.Ala1017Thr)	BRPF1 (A1010T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576727	NM_001003694.2(BRPF1):c.2521G>A (p.Glu841Lys)	BRPF1 (E834K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576675	NM_001003694.2(BRPF1):c.1672C>T (p.Arg558Cys)	BRPF1 (R558C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574886	NM_001003694.2(BRPF1):c.3316C>T (p.Pro1106Ser)	BRPF1 (P1005S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574871	NM_001003694.2(BRPF1):c.298G>A (p.Glu100Lys)	BRPF1 (E100K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573735	NM_001003694.2(BRPF1):c.2837G>C (p.Arg946Pro)	BRPF1 (R939P +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2573724	NM_001003694.2(BRPF1):c.3002C>T (p.Pro1001Leu)	BRPF1 (P1000L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2553571	NM_001003694.2(BRPF1):c.359C>T (p.Ser120Leu)	BRPF1 (S120L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550055	NM_001003694.2(BRPF1):c.985G>A (p.Asp329Asn)	BRPF1 (D329N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540790	NM_001003694.2(BRPF1):c.1924G>A (p.Glu642Lys)	BRPF1 (E642K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536853	NM_001003694.2(BRPF1):c.2430_2451delinsTCTGGCATC (p.Arg811fs)	BRPF1 (R804fs +3 more)	Indel (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2529298	NM_001003694.2(BRPF1):c.3190G>C (p.Gly1064Arg)	BRPF1 (G1057R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign

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