"PreventionGenetics, part of Exact Sciences"[submitter] AND "BRPF1"[ge - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 715567	NM_001003694.2(BRPF1):c.195G>A (p.Gly65=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 799387	NM_001003694.2(BRPF1):c.297G>A (p.Val99=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely 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 749860	NM_001003694.2(BRPF1):c.378C>T (p.Pro126=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	BRPF1-related disorder +1 more	GLikely benign
Select item 725803	NM_001003694.2(BRPF1):c.380A>G (p.Glu127Gly)	BRPF1 (E127G)	Single nucleotide variant (missense variant +1 more)	BRPF1-related disorder +1 more	GLikely benign
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 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 2633009	NM_001003694.2(BRPF1):c.789del (p.Gly264fs)	BRPF1 (G264fs)	Deletion (frameshift variant +1 more)	BRPF1-related disorder	GPathogenic
Select item 798633	NM_001003694.2(BRPF1):c.813C>T (p.Asp271=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 798307	NM_001003694.2(BRPF1):c.1390G>A (p.Gly464Ser)	BRPF1 (G464S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
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 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 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 3056900	NM_001003694.2(BRPF1):c.1812C>T (p.Leu604=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	BRPF1-related disorder	GBenign
Select item 3040369	NM_001003694.2(BRPF1):c.1855-7A>G	BRPF1	Single nucleotide variant (intron variant)	BRPF1-related disorder	GLikely benign
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 2630810	NM_001003694.2(BRPF1):c.2205_2216del (p.Arg739_Ala742del)	BRPF1	Deletion (inframe_deletion +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 750331	NM_001003694.2(BRPF1):c.2525G>A (p.Arg842Gln)	BRPF1 (R836Q +2 more)	Single nucleotide variant (missense variant +1 more)	BRPF1-related disorder +2 more	GLikely benign
Select item 728067	NM_001003694.2(BRPF1):c.2543G>A (p.Arg848Gln)	BRPF1 (R848Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 731147	NM_001003694.2(BRPF1):c.2943C>T (p.Ser981=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	BRPF1-related disorder +1 more	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 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 3044281	NM_001003694.2(BRPF1):c.3069-5C>T	BRPF1	Single nucleotide variant (intron variant)	BRPF1-related disorder	GLikely benign
Select item 732423	NM_001003694.2(BRPF1):c.3069-4A>T	BRPF1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 3051507	NM_001003694.2(BRPF1):c.3206-4G>A	BRPF1	Single nucleotide variant (intron variant)	BRPF1-related disorder	GLikely benign
Select item 1218778	NM_001003694.2(BRPF1):c.3446A>G (p.Tyr1149Cys)	BRPF1 (Y1048C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3046072	NM_001003694.2(BRPF1):c.3540G>A (p.Glu1180=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	BRPF1-related disorder	GBenign

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Items: 29