ClinVar for Gene (Select 2972) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148870	GRCh37/hg19 14q32.33(chr14:105516659-107284437)x3	BRF1, BTBD6 +22 more	Copy number gain	See cases	GUncertain significance
Select item 3135436	NM_001387567.1(BTBD6):c.1124G>A (p.Arg375His)	BRF1, BTBD6 (R375H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135435	NM_001387567.1(BTBD6):c.1123C>T (p.Arg375Cys)	BRF1, BTBD6 (R375C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135434	NM_001387567.1(BTBD6):c.1018A>C (p.Thr340Pro)	BRF1, BTBD6 (T340P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135433	NM_001387567.1(BTBD6):c.166G>A (p.Ala56Thr)	BRF1, BTBD6 (A56T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135432	NM_001387567.1(BTBD6):c.837G>T (p.Glu279Asp)	BRF1, BTBD6 (E226D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135431	NM_001387567.1(BTBD6):c.179C>G (p.Ala60Gly)	BRF1, BTBD6 (A7G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135430	NM_001387567.1(BTBD6):c.295G>C (p.Ala99Pro)	BRF1, BTBD6 (A99P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135429	NM_001387567.1(BTBD6):c.1451C>T (p.Thr484Met)	BRF1, BTBD6 (T431M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135428	NM_001387567.1(BTBD6):c.1444T>C (p.Phe482Leu)	BRF1, BTBD6 (F429L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135427	NM_001387567.1(BTBD6):c.1222G>A (p.Gly408Arg)	BRF1, BTBD6 (G355R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135034	NM_001519.4(BRF1):c.868G>A (p.Asp290Asn)	BRF1 (D290N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135033	NM_001519.4(BRF1):c.849C>G (p.Ile283Met)	BRF1 (I256M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135032	NM_001519.4(BRF1):c.794_795insTTTA (p.Glu266fs)	BRF1 (E151fs +4 more)	Insertion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3135031	NM_001519.4(BRF1):c.781C>T (p.Arg261Trp)	BRF1 (R146W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135030	NM_001519.4(BRF1):c.766T>C (p.Cys256Arg)	BRF1 (C18R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135029	NM_001519.4(BRF1):c.664G>A (p.Gly222Ser)	BRF1 (G107S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3135028	NM_001519.4(BRF1):c.1876G>A (p.Ala626Thr)	BRF1 (A533T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3135027	NM_001519.4(BRF1):c.1826C>G (p.Ala609Gly)	BRF1 (A494G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3135026	NM_001519.4(BRF1):c.1760G>T (p.Ser587Ile)	BRF1 (S472I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135025	NM_001519.4(BRF1):c.1648G>A (p.Gly550Ser)	BRF1 (G312S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135024	NM_001519.4(BRF1):c.1516C>A (p.Pro506Thr)	BRF1 (P268T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135023	NM_001519.4(BRF1):c.1303A>T (p.Ser435Cys)	BRF1 (S197C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3135022	NM_001519.4(BRF1):c.1265G>A (p.Gly422Asp)	BRF1 (G307D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135021	NM_001519.4(BRF1):c.1117G>T (p.Ala373Ser)	BRF1 (A258S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135020	NM_001519.4(BRF1):c.1117G>A (p.Ala373Thr)	BRF1 (A258T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3135019	NM_001519.4(BRF1):c.1074C>G (p.Ser358Arg)	BRF1 (S358R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3135018	NM_001519.4(BRF1):c.1015G>A (p.Ala339Thr)	BRF1 (A135T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067522	NM_001519.4(BRF1):c.1434C>T (p.Asn478=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	ADSS1, AHNAK2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3053748	NM_001519.4(BRF1):c.1917C>T (p.Asp639=)	BRF1	Single nucleotide variant (synonymous variant)	BRF1-related condition	GLikely benign
Select item 3044811	NM_001519.4(BRF1):c.1056C>T (p.Thr352=)	BRF1	Single nucleotide variant (synonymous variant)	BRF1-related condition	GLikely benign
Select item 3044004	NM_001519.4(BRF1):c.915+5C>G	BRF1	Single nucleotide variant (intron variant)	BRF1-related condition	GLikely benign
Select item 3043255	NM_001519.4(BRF1):c.1315+7T>A	BRF1	Single nucleotide variant (intron variant)	BRF1-related condition	GLikely benign
Select item 3039500	NM_001519.4(BRF1):c.266-7G>T	BRF1	Single nucleotide variant (intron variant)	BRF1-related condition	GLikely benign
Select item 3030943	NM_001519.4(BRF1):c.1941T>C (p.Pro647=)	BRF1	Single nucleotide variant (synonymous variant)	BRF1-related condition	GLikely benign
Select item 3024683	NM_001519.4(BRF1):c.1533G>A (p.Lys511=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2974283	NM_001100913.3(PACS2):c.40_48dup (p.Leu16_Asn17insGlyAlaLeu)	BRF1, PACS2	Duplication (inframe_insertion +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 2843058	NM_001100913.3(PACS2):c.119+8C>T	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2815133	NM_001100913.3(PACS2):c.104C>G (p.Pro35Arg)	BRF1, LOC130056677 +1 more (P35R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 2749544	NM_001100913.3(PACS2):c.94G>A (p.Gly32Ser)	BRF1, LOC130056677 +1 more (G32S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2688680	NM_001519.4(BRF1):c.1207G>A (p.Gly403Ser)	BRF1 (G165S +4 more)	Single nucleotide variant (missense variant)	Cerebellar-facial-dental syndrome	GUncertain significance
Select item 2688679	NM_001519.4(BRF1):c.1947GGA[1] (p.Glu650del)	BRF1 (E412del +5 more)	Microsatellite (inframe_deletion)	Cerebellar-facial-dental syndrome	GUncertain significance
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	DIO3OS, WDR20 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684747	GRCh37/hg19 14q32.33(chr14:105122914-107285437)x3	ADSS1, AHNAK2 +32 more	Copy number gain	not provided	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644915	NM_001519.4(BRF1):c.75C>T (p.Cys25=)	BRF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644914	NM_001519.4(BRF1):c.471+60C>T	BRF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644913	NM_001387567.1(BTBD6):c.1462G>A (p.Val488Ile)	BRF1, BTBD6 (V435I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2644912	NM_001387567.1(BTBD6):c.1182C>T (p.Phe394=)	BRF1, BTBD6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2644911	NM_001387567.1(BTBD6):c.933G>A (p.Ala311=)	BRF1, BTBD6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644910	NM_001387567.1(BTBD6):c.618C>G (p.Ala206=)	BRF1, BTBD6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644909	NM_001519.4(BRF1):c.594G>A (p.Glu198=)	BRF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2644908	NM_001519.4(BRF1):c.777G>A (p.Thr259=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644907	NM_001519.4(BRF1):c.1170C>T (p.Pro390=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644906	NM_001519.4(BRF1):c.1332C>T (p.Asp444=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644905	NM_001519.4(BRF1):c.1772+336T>G	BRF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2630302	NM_001519.4(BRF1):c.291del (p.Asn98fs)	BRF1 (N71fs +1 more)	Deletion (5 prime UTR variant +1 more)	BRF1-related condition	GLikely pathogenic
Select item 2630025	NM_001519.4(BRF1):c.1456_1457del (p.Arg486fs)	BRF1 (R248fs +5 more)	Microsatellite (frameshift variant)	BRF1-related condition	GLikely pathogenic
Select item 2619164	NM_001519.4(BRF1):c.1219G>A (p.Ala407Thr)	BRF1 (A203T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611815	NM_001519.4(BRF1):c.242C>T (p.Ser81Leu)	BRF1 (S81L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2610988	NM_001519.4(BRF1):c.628C>T (p.Leu210Phe)	BRF1 (L183F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605891	NM_001519.4(BRF1):c.1321G>A (p.Ala441Thr)	BRF1 (A414T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600107	NM_001387567.1(BTBD6):c.683G>A (p.Cys228Tyr)	BRF1, BTBD6 (C175Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	MIR4538, MIR4539 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2577008	GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1	ADSS1, AHNAK2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2570893	NM_001100913.3(PACS2):c.37C>G (p.Pro13Ala)	BRF1, PACS2 (P13A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2560721	NM_001519.4(BRF1):c.1057G>A (p.Glu353Lys)	BRF1 (E326K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2555231	NM_001387567.1(BTBD6):c.1184A>C (p.Gln395Pro)	BRF1, BTBD6 (Q342P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546993	NM_001519.4(BRF1):c.2005T>C (p.Cys669Arg)	BRF1 (C431R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540881	NM_001519.4(BRF1):c.665G>C (p.Gly222Ala)	BRF1 (G107A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534379	NM_001100913.3(PACS2):c.41G>C (p.Gly14Ala)	BRF1, PACS2 (G14A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534378	NM_001100913.3(PACS2):c.28C>G (p.Pro10Ala)	BRF1, PACS2 (P10A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532961	NM_001387567.1(BTBD6):c.1410G>C (p.Trp470Cys)	BRF1, BTBD6 (W470C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525850	NM_001519.4(BRF1):c.728G>A (p.Arg243Lys)	BRF1 (R5K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2520782	NM_001387567.1(BTBD6):c.1159G>A (p.Ala387Thr)	BRF1, BTBD6 (A334T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508290	NM_001387567.1(BTBD6):c.892G>A (p.Glu298Lys)	BRF1, BTBD6 (E245K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507552	NM_001519.4(BRF1):c.1139A>G (p.Asp380Gly)	BRF1 (D265G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2502711	NM_001519.4(BRF1):c.1793C>T (p.Thr598Met)	BRF1 (T360M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501847	NM_001519.4(BRF1):c.1651G>A (p.Gly551Arg)	BRF1 (G313R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2491307	NM_001387567.1(BTBD6):c.1156C>T (p.Leu386Phe)	BRF1, BTBD6 (L386F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491306	NM_001519.4(BRF1):c.1327G>C (p.Gly443Arg)	BRF1 (G205R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480002	NM_001387567.1(BTBD6):c.547C>T (p.Pro183Ser)	BRF1, BTBD6 (P130S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476444	NM_001519.4(BRF1):c.1192A>T (p.Ser398Cys)	BRF1 (S160C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475301	NM_001519.4(BRF1):c.136A>G (p.Ser46Gly)	BRF1 (S46G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473034	NM_001519.4(BRF1):c.1067C>T (p.Ala356Val)	BRF1 (A118V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2460347	NM_001519.4(BRF1):c.1201T>A (p.Trp401Arg)	BRF1 (W163R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2455216	NM_001519.4(BRF1):c.1538G>A (p.Arg513Gln)	BRF1 (R275Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455180	NM_001387567.1(BTBD6):c.972C>G (p.Asn324Lys)	BRF1, BTBD6 (N271K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2444352	NM_001519.4(BRF1):c.1204G>A (p.Gly402Ser)	BRF1 (G164S +4 more)	Single nucleotide variant (missense variant)	Cerebellar-facial-dental syndrome	GUncertain significance
Select item 2426765	NC_000014.8:g.(?_105167703)_(105861009_?)del	ADSS1, AHNAK2 +14 more	Deletion	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 2424156	NC_000014.8:g.(?_102228231)_(105861009_?)dup	ADSS1, AHNAK2 +47 more	Duplication	Charcot-Marie-Tooth disease axonal type 2O	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

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