BRPF3[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 3135124	NM_015695.3(BRPF3):c.17G>A (p.Arg6Gln)	BRPF3 (R6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593011	NM_015695.3(BRPF3):c.26G>A (p.Arg9Gln)	BRPF3 (R9Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135140	NM_015695.3(BRPF3):c.59C>T (p.Pro20Leu)	BRPF3 (P20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532923	NM_015695.3(BRPF3):c.152G>A (p.Arg51His)	BRPF3 (R51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354452	NM_015695.3(BRPF3):c.294A>T (p.Lys98Asn)	BRPF3 (K98N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261873	NM_015695.3(BRPF3):c.301G>A (p.Glu101Lys)	BRPF3 (E101K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261876	NM_015695.3(BRPF3):c.317A>G (p.His106Arg)	BRPF3 (H106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261875	NM_015695.3(BRPF3):c.398T>G (p.Leu133Arg)	BRPF3 (L133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264149	NM_015695.3(BRPF3):c.454G>A (p.Val152Ile)	BRPF3 (V152I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135138	NM_015695.3(BRPF3):c.498G>A (p.Met166Ile)	BRPF3 (M166I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205745	NM_015695.3(BRPF3):c.506A>G (p.Glu169Gly)	BRPF3 (E169G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458314	NM_015695.3(BRPF3):c.562G>A (p.Val188Ile)	BRPF3 (V188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135139	NM_015695.3(BRPF3):c.569G>A (p.Arg190Gln)	BRPF3 (R190Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385410	NM_015695.3(BRPF3):c.599G>A (p.Arg200His)	BRPF3 (R200H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388874	NM_015695.3(BRPF3):c.677G>A (p.Ser226Asn)	BRPF3 (S226N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333476	NM_015695.3(BRPF3):c.736G>A (p.Val246Ile)	BRPF3 (V246I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394316	NM_015695.3(BRPF3):c.821A>G (p.Asn274Ser)	BRPF3 (N274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543656	NM_015695.3(BRPF3):c.847A>G (p.Ser283Gly)	BRPF3 (S283G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606025	NM_015695.3(BRPF3):c.955G>A (p.Ala319Thr)	BRPF3 (A319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263779	NM_015695.3(BRPF3):c.1105A>T (p.Ser369Cys)	BRPF3 (S369C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233975	NM_015695.3(BRPF3):c.1154C>A (p.Ala385Asp)	BRPF3 (A385D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135120	NM_015695.3(BRPF3):c.1292A>G (p.Gln431Arg)	BRPF3 (Q431R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261862	NM_015695.3(BRPF3):c.1310T>G (p.Val437Gly)	BRPF3 (V437G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287815	NM_015695.3(BRPF3):c.1345A>C (p.Lys449Gln)	BRPF3 (K449Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135121	NM_015695.3(BRPF3):c.1396G>C (p.Asp466His)	BRPF3 (D466H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400598	NM_015695.3(BRPF3):c.1402C>A (p.Pro468Thr)	BRPF3 (P468T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519197	NM_015695.3(BRPF3):c.1414C>T (p.Pro472Ser)	BRPF3 (P472S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135122	NM_015695.3(BRPF3):c.1541G>A (p.Arg514Gln)	BRPF3 (R514Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272720	NM_015695.3(BRPF3):c.1552C>G (p.Pro518Ala)	BRPF3 (P518A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261868	NM_015695.3(BRPF3):c.1595A>G (p.Asn532Ser)	BRPF3 (N532S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272229	NM_015695.3(BRPF3):c.1643A>T (p.Glu548Val)	BRPF3 (E548V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261872	NM_015695.3(BRPF3):c.1681C>T (p.Arg561Trp)	BRPF3 (R561W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572227	NM_015695.3(BRPF3):c.1685del (p.Ala562fs)	BRPF3 (A562fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3135123	NM_015695.3(BRPF3):c.1730G>A (p.Arg577Gln)	BRPF3 (R577Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261866	NM_015695.3(BRPF3):c.1823A>G (p.Lys608Arg)	BRPF3 (K608R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135125	NM_015695.3(BRPF3):c.1888A>G (p.Ile630Val)	BRPF3 (I630V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261871	NM_015695.3(BRPF3):c.1896G>C (p.Lys632Asn)	BRPF3 (K632N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479382	NM_015695.3(BRPF3):c.1922G>A (p.Arg641Gln)	BRPF3 (R641Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135126	NM_015695.3(BRPF3):c.1945C>T (p.Arg649Cys)	BRPF3 (R649C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571633	NM_015695.3(BRPF3):c.1978C>T (p.Leu660Phe)	BRPF3 (L660F)	Single nucleotide variant (missense variant)	Cranial asymmetry +3 more	GUncertain significance
Select item 3261864	NM_015695.3(BRPF3):c.1997T>C (p.Met666Thr)	BRPF3 (M666T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135127	NM_015695.3(BRPF3):c.2030G>A (p.Arg677Gln)	BRPF3 (R677Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135128	NM_015695.3(BRPF3):c.2054T>C (p.Leu685Pro)	BRPF3 (L685P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270752	NM_015695.3(BRPF3):c.2059G>A (p.Gly687Arg)	BRPF3 (G687R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526047	NM_015695.3(BRPF3):c.2077G>A (p.Ala693Thr)	BRPF3 (A693T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261867	NM_015695.3(BRPF3):c.2294C>T (p.Thr765Ile)	BRPF3 (T765I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476817	NM_015695.3(BRPF3):c.2327A>G (p.Asn776Ser)	BRPF3 (N776S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603643	NM_015695.3(BRPF3):c.2362C>T (p.Pro788Ser)	BRPF3 (P788S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348542	NM_015695.3(BRPF3):c.2432C>G (p.Ala811Gly)	BRPF3 (A811G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376233	NM_015695.3(BRPF3):c.2504C>T (p.Pro835Leu)	BRPF3 (P835L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518372	NM_015695.3(BRPF3):c.2521A>C (p.Thr841Pro)	BRPF3 (T841P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229362	NM_015695.3(BRPF3):c.2555C>T (p.Ser852Phe)	BRPF3 (S852F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608397	NM_015695.3(BRPF3):c.2560C>A (p.Pro854Thr)	BRPF3 (P854T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135130	NM_015695.3(BRPF3):c.2564A>G (p.Glu855Gly)	BRPF3 (E855G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261863	NM_015695.3(BRPF3):c.2689C>A (p.Arg897Ser)	BRPF3 (R897S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406307	NM_015695.3(BRPF3):c.2749G>A (p.Gly917Ser)	BRPF3 (G917S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467187	NM_015695.3(BRPF3):c.2838G>T (p.Arg946Ser)	BRPF3 (R946S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403212	NM_015695.3(BRPF3):c.2882C>A (p.Ala961Asp)	BRPF3 (A961D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406998	NM_015695.3(BRPF3):c.2908C>T (p.Arg970Cys)	BRPF3 (R970C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261865	NM_015695.3(BRPF3):c.2939G>C (p.Ser980Thr)	BRPF3 (S980T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243702	NM_015695.3(BRPF3):c.2953G>A (p.Glu985Lys)	BRPF3 (E985K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610738	NM_015695.3(BRPF3):c.2990G>C (p.Gly997Ala)	BRPF3 (G997A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217402	NM_015695.3(BRPF3):c.3019G>A (p.Glu1007Lys)	BRPF3 (E1007K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261874	NM_015695.3(BRPF3):c.3049G>A (p.Gly1017Ser)	BRPF3 (G1017S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2673058	NM_015695.3(BRPF3):c.3055A>G (p.Ser1019Gly)	BRPF3 (S1019G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3135132	NM_015695.3(BRPF3):c.3077C>T (p.Ala1026Val)	BRPF3 (A1026V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510273	NM_015695.3(BRPF3):c.3149G>A (p.Gly1050Asp)	BRPF3 (G1050D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316724	NM_015695.3(BRPF3):c.3158G>A (p.Gly1053Glu)	BRPF3 (G1053E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312966	NM_015695.3(BRPF3):c.3172A>G (p.Asn1058Asp)	BRPF3 (N1058D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307056	NM_015695.3(BRPF3):c.3173A>G (p.Asn1058Ser)	BRPF3 (N1058S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3135133	NM_015695.3(BRPF3):c.3214G>A (p.Gly1072Arg)	BRPF3 (G1072R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2673059	NM_015695.3(BRPF3):c.3253C>G (p.Arg1085Gly)	BRPF3 (R1085G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2404971	NM_015695.3(BRPF3):c.3280A>G (p.Ile1094Val)	BRPF3 (I1094V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283978	NM_015695.3(BRPF3):c.3286G>A (p.Asp1096Asn)	BRPF3 (D1096N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135134	NM_015695.3(BRPF3):c.3320A>G (p.Asn1107Ser)	BRPF3 (N1107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268886	NM_015695.3(BRPF3):c.3344C>T (p.Pro1115Leu)	BRPF3 (P1115L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261870	NM_015695.3(BRPF3):c.3370C>G (p.Gln1124Glu)	BRPF3 (Q1124E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135135	NM_015695.3(BRPF3):c.3377A>G (p.Gln1126Arg)	BRPF3 (Q1126R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474032	NM_015695.3(BRPF3):c.3484G>A (p.Val1162Met)	BRPF3 (V1162M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348499	NM_015695.3(BRPF3):c.3520A>G (p.Ser1174Gly)	BRPF3 (S1174G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135136	NM_015695.3(BRPF3):c.3561G>T (p.Met1187Ile)	BRPF3 (M1187I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318724	NM_015695.3(BRPF3):c.3563T>G (p.Ile1188Ser)	BRPF3 (I1188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246250	NC_000006.11:g.(?_35773448)_(36953949_?)del	BRPF3, BNIP5 +18 more	Deletion	not provided	GPathogenic
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 92