"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "BRF1"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 735819	NM_001519.4(BRF1):c.2007T>C (p.Cys669=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753729	NM_001519.4(BRF1):c.1996+7G>A	BRF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 744931	NM_001519.4(BRF1):c.1980G>A (p.Gln660=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 757033	NM_001519.4(BRF1):c.1944C>T (p.Asp648=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786751	NM_001519.4(BRF1):c.1929C>T (p.Asp643=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715783	NM_001519.4(BRF1):c.1899C>T (p.Pro633=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725999	NM_001519.4(BRF1):c.1890G>A (p.Glu630=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756673	NM_001519.4(BRF1):c.1725G>T (p.Thr575=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739080	NM_001519.4(BRF1):c.1683C>T (p.Pro561=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719527	NM_001519.4(BRF1):c.1650C>T (p.Gly550=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771001	NM_001519.4(BRF1):c.1560C>T (p.Thr520=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724643	NM_001519.4(BRF1):c.1516-4C>G	BRF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 759429	NM_001519.4(BRF1):c.1459+7G>A	BRF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 753180	NM_001519.4(BRF1):c.1308C>T (p.Ser436=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750334	NM_001519.4(BRF1):c.1242C>T (p.Pro414=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 793570	NM_001519.4(BRF1):c.1179G>A (p.Ser393=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729689	NM_001519.4(BRF1):c.1160GTG[1] (p.Gly388del)	BRF1 (G388del +4 more)	Microsatellite (inframe_deletion)	not provided	GBenign/Likely benign
Select item 755723	NM_001519.4(BRF1):c.1143A>G (p.Leu381=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716593	NM_001519.4(BRF1):c.1101C>T (p.Asp367=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736452	NM_001519.4(BRF1):c.1071C>G (p.Ser357=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713523	NM_001519.4(BRF1):c.1065C>T (p.Thr355=)	BRF1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 744164	NM_001519.4(BRF1):c.987G>C (p.Glu329Asp)	BRF1 (E329D +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 708602	NM_001519.4(BRF1):c.927C>T (p.Val309=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 776865	NM_001519.4(BRF1):c.915+9G>A	BRF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 729867	NM_001519.4(BRF1):c.900G>A (p.Lys300=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745860	NM_001519.4(BRF1):c.879G>A (p.Ser293=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719028	NM_001519.4(BRF1):c.876C>G (p.Pro292=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725685	NM_001519.4(BRF1):c.867C>T (p.Cys289=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 161424	NM_001519.4(BRF1):c.776C>T (p.Thr259Met)	BRF1 (T144M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 788122	NM_001519.4(BRF1):c.696G>A (p.Ala232=)	BRF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 710470	NM_001519.4(BRF1):c.687C>T (p.Cys229=)	BRF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 738125	NM_001519.4(BRF1):c.618T>G (p.Thr206=)	BRF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 770430	NM_001519.4(BRF1):c.549G>A (p.Pro183=)	BRF1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 796862	NM_001519.4(BRF1):c.545-4G>A	BRF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 714000	NM_001519.4(BRF1):c.468C>G (p.Leu156=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752741	NM_001519.4(BRF1):c.414G>T (p.Leu138=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721625	NM_001519.4(BRF1):c.249G>A (p.Ala83=)	BRF1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 791402	NM_001519.4(BRF1):c.243G>A (p.Ser81=)	BRF1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 724015	NM_001519.4(BRF1):c.243G>C (p.Ser81=)	BRF1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 714553	NM_001519.4(BRF1):c.223G>A (p.Val75Met)	BRF1 (V75M)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1441469	NM_001100913.3(PACS2):c.7G>C (p.Glu3Gln)	BRF1, PACS2 (E3Q)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 66 +1 more	GUncertain significance
Select item 2040827	NM_001100913.3(PACS2):c.12A>G (p.Arg4=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1718776	NM_001100913.3(PACS2):c.17G>C (p.Arg6Pro)	BRF1, PACS2 (R6P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1522559	NM_001100913.3(PACS2):c.17G>T (p.Arg6Leu)	BRF1, PACS2 (R6L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1998591	NM_001100913.3(PACS2):c.25_33dup (p.Gly11_Ala12insLeuProGly)	BRF1, PACS2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1717818	NM_001100913.3(PACS2):c.20T>G (p.Leu7Arg)	PACS2, BRF1 (L7R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1631591	NM_001100913.3(PACS2):c.21C>A (p.Leu7=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1542589	NM_001100913.3(PACS2):c.21C>T (p.Leu7=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1388202	NM_001100913.3(PACS2):c.25_33del (p.Leu9_Gly11del)	PACS2, BRF1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1373831	NM_001100913.3(PACS2):c.25C>T (p.Leu9Phe)	BRF1, PACS2 (L9F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1674617	NM_001100913.3(PACS2):c.29CCGGCGCGC[3] (p.Ala15_Leu16insProGlyAla)	BRF1, PACS2	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2770810	NM_001100913.3(PACS2):c.29CCGGCGCGC[1] (p.10PGA[1])	BRF1, PACS2	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3005989	NM_001100913.3(PACS2):c.29C>T (p.Pro10Leu)	BRF1, PACS2 (P10L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1976053	NM_001100913.3(PACS2):c.31G>A (p.Gly11Ser)	BRF1, PACS2 (G11S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2009557	NM_001100913.3(PACS2):c.33C>A (p.Gly11=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1600317	NM_001100913.3(PACS2):c.33C>T (p.Gly11=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1949382	NM_001100913.3(PACS2):c.41_58dup (p.Pro19_Val20insGlyAlaLeuAsnThrPro)	BRF1, PACS2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2837499	NM_001100913.3(PACS2):c.36G>A (p.Ala12=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2040828	NM_001100913.3(PACS2):c.36G>T (p.Ala12=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1402365	NM_001100913.3(PACS2):c.37C>T (p.Pro13Ser)	BRF1, PACS2 (P13S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974283	NM_001100913.3(PACS2):c.40_48dup (p.Leu16_Asn17insGlyAlaLeu)	BRF1, PACS2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2185885	NM_001100913.3(PACS2):c.38C>T (p.Pro13Leu)	BRF1, PACS2 (P13L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1556914	NM_001100913.3(PACS2):c.44C>T (p.Ala15Val)	BRF1, PACS2 (A15V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2753153	NM_001100913.3(PACS2):c.45G>C (p.Ala15=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2168805	NM_001100913.3(PACS2):c.45G>A (p.Ala15=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1355779	NM_001100913.3(PACS2):c.47T>C (p.Leu16Pro)	BRF1, PACS2 (L16P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1928806	NM_001100913.3(PACS2):c.49A>T (p.Asn17Tyr)	BRF1, PACS2 (N17Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1647179	NM_001100913.3(PACS2):c.57C>T (p.Pro19=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1638026	NM_001100913.3(PACS2):c.57C>G (p.Pro19=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1491455	NM_001100913.3(PACS2):c.57C>A (p.Pro19=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1029076	NM_001100913.3(PACS2):c.58G>A (p.Val20Met)	BRF1, LOC130056677 +1 more (V20M)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 66 +1 more	GUncertain significance
Select item 2056588	NM_001100913.3(PACS2):c.60G>A (p.Val20=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1940200	NM_001100913.3(PACS2):c.65T>C (p.Met22Thr)	BRF1, LOC130056677 +1 more (M22T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1535271	NM_001100913.3(PACS2):c.70C>T (p.Leu24=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2172522	NM_001100913.3(PACS2):c.72G>C (p.Leu24=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2767356	NM_001100913.3(PACS2):c.75C>T (p.Phe25=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2302770	NM_001100913.3(PACS2):c.75C>G (p.Phe25Leu)	BRF1, LOC130056677 +1 more (F25L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1673644	NM_001100913.3(PACS2):c.79A>G (p.Thr27Ala)	PACS2, BRF1 +1 more (T27A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2014760	NM_001100913.3(PACS2):c.80C>T (p.Thr27Ile)	BRF1, LOC130056677 +1 more (T27I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1495442	NM_001100913.3(PACS2):c.83G>A (p.Trp28Ter)	BRF1, LOC130056677 +1 more (W28*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2749544	NM_001100913.3(PACS2):c.94G>A (p.Gly32Ser)	LOC130056677, PACS2 +1 more (G32S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2032426	NM_001100913.3(PACS2):c.102C>T (p.Ser34=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1365709	NM_001100913.3(PACS2):c.103C>A (p.Pro35Thr)	BRF1, LOC130056677 +1 more (P35T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2815133	NM_001100913.3(PACS2):c.104C>G (p.Pro35Arg)	PACS2, BRF1 +1 more (P35R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2866459	NM_001100913.3(PACS2):c.106A>T (p.Ser36Cys)	BRF1, LOC130056677 +1 more (S36C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2111127	NM_001100913.3(PACS2):c.112G>C (p.Val38Leu)	BRF1, LOC130056677 +1 more (V38L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2126565	NM_001100913.3(PACS2):c.119+4C>T	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1367519	NM_001100913.3(PACS2):c.119+6C>T	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2130182	NM_001100913.3(PACS2):c.119+7G>C	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013078	NM_001100913.3(PACS2):c.119+7G>A	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843058	NM_001100913.3(PACS2):c.119+8C>T	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2093881	NM_001100913.3(PACS2):c.119+10del	BRF1, LOC130056677 +1 more	Deletion (intron variant)	not provided	GLikely benign
Select item 1541643	NM_001100913.3(PACS2):c.119+17G>A	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3244068	NC_000014.8:g.(?_105781256)_(105858123_?)dup	BRF1, PACS2	Duplication	not provided	GUncertain significance
Select item 3244067	NC_000014.8:g.(?_105781256)_(105861009_?)dup	BRF1, PACS2	Duplication	not provided	GUncertain significance
Select item 3244027	NC_000014.8:g.(?_102873655)_(105861009_?)del	ADSS1, AHNAK2 +40 more	Deletion	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2426765	NC_000014.8:g.(?_105167703)_(105861009_?)del	ADSS1, AHNAK2 +14 more	Deletion	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2424156	NC_000014.8:g.(?_102228231)_(105861009_?)dup	MOK, NUDT14 +47 more	Duplication	Herpes simplex encephalitis, susceptibility to, 3 +1 more	GUncertain significance
Select item 2424155	NC_000014.8:g.(?_102442029)_(105861009_?)del	ADSS1, AHNAK2 +46 more	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2423703	NC_000014.8:g.(?_105781256)_(105834504_?)dup	BRF1, PACS2	Duplication	not provided	GUncertain significance

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