ClinVar for Gene (Select 54480) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3144531	NM_019015.3(CHPF2):c.809G>A (p.Gly270Asp)	CHPF2 (G199D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144530	NM_019015.3(CHPF2):c.719G>A (p.Arg240Gln)	CHPF2 (R169Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144529	NM_019015.3(CHPF2):c.646G>A (p.Ala216Thr)	CHPF2 (A145T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144528	NM_019015.3(CHPF2):c.521A>G (p.Asp174Gly)	CHPF2 (D174G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144527	NM_019015.3(CHPF2):c.512T>C (p.Phe171Ser)	CHPF2 (F171S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144526	NM_019015.3(CHPF2):c.413G>T (p.Arg138Leu)	CHPF2 (R138L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144525	NM_019015.3(CHPF2):c.178C>T (p.Arg60Trp)	CHPF2 (R52W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144524	NM_019015.3(CHPF2):c.1588G>A (p.Gly530Arg)	CHPF2 (G469R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144523	NM_019015.3(CHPF2):c.1472T>C (p.Leu491Pro)	CHPF2 (L359P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144522	NM_019015.3(CHPF2):c.1365G>C (p.Gln455His)	CHPF2 (Q394H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144521	NM_019015.3(CHPF2):c.1324A>T (p.Met442Leu)	CHPF2 (M381L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144520	NM_019015.3(CHPF2):c.1262G>A (p.Arg421His)	CHPF2 (R360H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144519	NM_019015.3(CHPF2):c.1217C>T (p.Ala406Val)	CHPF2 (A335V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144518	NM_019015.3(CHPF2):c.1207G>A (p.Val403Met)	CHPF2 (V395M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144517	NM_019015.3(CHPF2):c.1022G>T (p.Arg341Leu)	CHPF2 (R333L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062962	GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1	LOC100134040, LRRC61 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685275	GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1	TMEM176B, ZNF425 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2658187	NM_019015.3(CHPF2):c.1221G>A (p.Leu407=)	CHPF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658186	NM_019015.3(CHPF2):c.909C>T (p.Phe303=)	CHPF2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2658185	NM_019015.3(CHPF2):c.246C>T (p.Pro82=)	CHPF2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2621517	NM_019015.3(CHPF2):c.1351G>C (p.Glu451Gln)	CHPF2 (E443Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601430	NM_019015.3(CHPF2):c.641T>A (p.Ile214Asn)	CHPF2 (I206N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591277	NM_019015.3(CHPF2):c.130G>C (p.Glu44Gln)	CHPF2 (E36Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590959	NM_019015.3(CHPF2):c.791T>C (p.Ile264Thr)	CHPF2 (I256T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590283	NM_019015.3(CHPF2):c.352G>A (p.Val118Met)	CHPF2 (V47M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	C7orf33, CASP2 +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2543208	NM_019015.3(CHPF2):c.175G>A (p.Ala59Thr)	CHPF2 (A51T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2542588	NM_019015.3(CHPF2):c.295C>T (p.Arg99Cys)	CHPF2 (R99C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532376	NM_019015.3(CHPF2):c.1298A>C (p.Tyr433Ser)	CHPF2 (Y433S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529777	NM_019015.3(CHPF2):c.1936C>G (p.Pro646Ala)	CHPF2 (P638A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520814	NM_019015.3(CHPF2):c.781C>T (p.Arg261Cys)	CHPF2 (R190C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477571	NM_019015.3(CHPF2):c.137T>C (p.Val46Ala)	CHPF2 (V46A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464892	NM_019015.3(CHPF2):c.1966C>T (p.Arg656Trp)	CHPF2 (R585W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464705	NM_019015.3(CHPF2):c.866G>C (p.Arg289Thr)	CHPF2 (R218T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463803	NM_019015.3(CHPF2):c.1463G>A (p.Arg488Gln)	CHPF2 (R480Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460199	NM_019015.3(CHPF2):c.1823G>A (p.Arg608His)	CHPF2 (R608H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455422	NM_019015.3(CHPF2):c.1309G>A (p.Asp437Asn)	CHPF2 (D437N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427458	NC_000007.13:g.(?_150307047)_(152613597_?)del	ASB10, ASIC3 +31 more	Deletion	not provided	GPathogenic
Select item 2426280	NC_000007.13:g.(?_150642453)_(151573705_?)del	ABCB8, ABCF2 +19 more	Deletion	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2425238	NC_000007.13:g.(?_150324807)_(152373164_?)dup	ABCB8, ABCF2 +30 more	Duplication	not provided	GUncertain significance
Select item 2425237	NC_000007.13:g.(?_150324807)_(152373164_?)del	ABCB8, ABCF2 +30 more	Deletion	not provided	GPathogenic
Select item 2412467	NM_019015.3(CHPF2):c.662G>A (p.Arg221Gln)	CHPF2 (R213Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407269	NM_019015.3(CHPF2):c.1022G>A (p.Arg341Gln)	CHPF2 (R280Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404494	NM_019015.3(CHPF2):c.1880A>G (p.Asn627Ser)	CHPF2 (N627S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396579	NM_019015.3(CHPF2):c.652G>A (p.Glu218Lys)	CHPF2 (E147K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394875	NM_019015.3(CHPF2):c.1730T>C (p.Met577Thr)	CHPF2 (M506T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394220	NM_019015.3(CHPF2):c.1114G>T (p.Val372Leu)	CHPF2 (V240L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381333	NM_019015.3(CHPF2):c.2152C>T (p.Arg718Trp)	CHPF2, MIR671 (R586W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368943	NM_019015.3(CHPF2):c.1246C>T (p.Arg416Trp)	CHPF2 (R345W +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2360099	NM_019015.3(CHPF2):c.1301G>A (p.Arg434Gln)	CHPF2 (R363Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358481	NM_019015.3(CHPF2):c.511T>G (p.Phe171Val)	CHPF2 (F100V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346636	NM_019015.3(CHPF2):c.5G>A (p.Arg2Gln)	CHPF2 (R2Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2346211	NM_019015.3(CHPF2):c.641T>C (p.Ile214Thr)	CHPF2 (I214T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335584	NM_019015.3(CHPF2):c.2261G>A (p.Gly754Glu)	CHPF2 (G683E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326559	NM_019015.3(CHPF2):c.1489G>A (p.Val497Met)	CHPF2 (V426M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318276	NM_019015.3(CHPF2):c.569C>T (p.Pro190Leu)	CHPF2 (P119L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316230	NM_019015.3(CHPF2):c.1250G>A (p.Arg417His)	CHPF2 (R346H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303528	NM_019015.3(CHPF2):c.2287C>G (p.Leu763Val)	CHPF2 (L692V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273182	NM_019015.3(CHPF2):c.2192G>A (p.Arg731Gln)	CHPF2 (R660Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272656	NM_019015.3(CHPF2):c.2293G>C (p.Glu765Gln)	CHPF2 (E633Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266721	NM_019015.3(CHPF2):c.1055C>G (p.Ala352Gly)	CHPF2 (A344G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260434	NM_019015.3(CHPF2):c.531G>T (p.Trp177Cys)	CHPF2 (W169C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255751	NM_019015.3(CHPF2):c.1319G>A (p.Arg440Gln)	CHPF2 (R369Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241799	NM_019015.3(CHPF2):c.668G>C (p.Cys223Ser)	CHPF2 (C152S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224313	NM_019015.3(CHPF2):c.340T>C (p.Ser114Pro)	CHPF2 (S43P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210176	NM_019015.3(CHPF2):c.2053C>T (p.Arg685Trp)	CHPF2 (R624W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209243	NM_019015.3(CHPF2):c.808G>A (p.Gly270Ser)	CHPF2 (G270S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208031	NM_019015.3(CHPF2):c.1607G>A (p.Arg536His)	CHPF2 (R528H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205781	NM_019015.3(CHPF2):c.661C>T (p.Arg221Trp)	CHPF2 (R150W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807607	GRCh37/hg19 7q36.1(chr7:149332630-151498689)x1	ABCB8, ABCF2 +40 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ABCB8, ABCF2 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	ABCB8, ABCF2 +80 more	Copy number gain	not provided	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 1330211	GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1	ABCF2, AGAP3 +19 more	Copy number loss	Kleefstra syndrome 2	GPathogenic
Select item 1068862	NC_000007.13:g.(?_150642443)_(151385353_?)del	ATG9B, ABCB8 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 1027137	NC_000007.13:g.(?_150642453)_(152373165_?)dup	ASB10, ASIC3 +23 more	Duplication	Long QT syndrome	GUncertain significance
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 830594	NC_000007.13:g.(?_150642443)_(151385353_?)dup	ABCF2, ABCB8 +19 more	Duplication	Long QT syndrome	GUncertain significance
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 774666	NM_019015.3(CHPF2):c.761G>A (p.Arg254His)	CHPF2 (R246H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 773500	NM_019015.3(CHPF2):c.1379G>A (p.Arg460Gln)	CHPF2 (R452Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686874	GRCh37/hg19 7q36.1(chr7:149968222-152539376)x3	ABCB8, ABCF2 +40 more	Copy number gain	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic

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