ClinVar for Gene (Select 116988) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275208	NM_031946.7(AGAP3):c.1648C>T (p.Pro550Ser)	AGAP3 (P550S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275196	NM_031946.7(AGAP3):c.1769C>A (p.Thr590Asn)	AGAP3 (T590N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275189	NM_031946.7(AGAP3):c.482G>A (p.Gly161Glu)	AGAP3 (G341E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275179	NM_031946.7(AGAP3):c.2464G>A (p.Gly822Arg)	AGAP3 (G373R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275170	NM_031946.7(AGAP3):c.2287C>T (p.Arg763Cys)	AGAP3 (R763C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275149	NM_031946.7(AGAP3):c.2212G>A (p.Ala738Thr)	AGAP3 (A407T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245697	NC_000007.13:g.(?_150643945)_(151573705_?)del	ABCB8, ABCF2 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3094003	NM_031946.7(AGAP3):c.971C>T (p.Ala324Val)	AGAP3 (A504V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3093988	NM_031946.7(AGAP3):c.281A>G (p.Glu94Gly)	AGAP3 (E94G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3093978	NM_031946.7(AGAP3):c.2629C>T (p.His877Tyr)	AGAP3 (H428Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093974	NM_031946.7(AGAP3):c.2564G>A (p.Gly855Asp)	AGAP3 (G406D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093966	NM_031946.7(AGAP3):c.2503G>A (p.Val835Ile)	AGAP3 (V504I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093958	NM_031946.7(AGAP3):c.2458G>A (p.Gly820Arg)	AGAP3 (G474R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093949	NM_031946.7(AGAP3):c.2395C>G (p.Arg799Gly)	AGAP3 (R453G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093942	NM_031946.7(AGAP3):c.2372G>A (p.Arg791Gln)	AGAP3 (R460Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093936	NM_031946.7(AGAP3):c.2125G>A (p.Ala709Thr)	AGAP3 (A260T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093924	NM_031946.7(AGAP3):c.2002G>A (p.Val668Ile)	AGAP3 (V337I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093922	NM_031946.7(AGAP3):c.1993G>A (p.Val665Met)	AGAP3 (V216M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093910	NM_031946.7(AGAP3):c.1817C>T (p.Ser606Leu)	AGAP3 (S260L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093908	NM_031946.7(AGAP3):c.1762A>G (p.Thr588Ala)	AGAP3 (T588A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093904	NM_031946.7(AGAP3):c.173C>T (p.Pro58Leu)	AGAP3 (P58L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3093898	NM_031946.7(AGAP3):c.1623G>C (p.Trp541Cys)	AGAP3 (W195C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093880	NM_031946.7(AGAP3):c.1466G>A (p.Arg489Gln)	AGAP3 (R143Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093877	NM_031946.7(AGAP3):c.1427C>T (p.Pro476Leu)	AGAP3 (P130L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093872	NM_031946.7(AGAP3):c.1370G>A (p.Arg457Gln)	AGAP3 (R457Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093862	NM_031946.7(AGAP3):c.1139G>T (p.Gly380Val)	AGAP3 (G152V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093858	NM_031946.7(AGAP3):c.1120A>G (p.Ile374Val)	AGAP3 (I554V +2 more)	Single nucleotide variant (missense variant +2 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 2658183	NM_031946.7(AGAP3):c.2669C>T (p.Pro890Leu)	AGAP3 (P441L +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2658182	NM_031946.7(AGAP3):c.2040C>T (p.Cys680=)	AGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658181	NM_031946.7(AGAP3):c.970-4T>G	AGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2658180	NM_031946.7(AGAP3):c.78C>A (p.Ala26=)	AGAP3	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 2618888	NM_031946.7(AGAP3):c.2560C>T (p.Arg854Trp)	AGAP3 (R751W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610623	NM_031946.7(AGAP3):c.1106A>G (p.Lys369Arg)	AGAP3 (K549R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2602200	NM_031946.7(AGAP3):c.1519G>A (p.Ala507Thr)	AGAP3 (A161T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2595372	NM_031946.7(AGAP3):c.2041G>A (p.Asp681Asn)	AGAP3 (D681N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2525435	NM_031946.7(AGAP3):c.974C>T (p.Thr325Met)	AGAP3 (T97M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2518248	NM_031946.7(AGAP3):c.172C>T (p.Pro58Ser)	AGAP3 (P58S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2485394	NM_031946.7(AGAP3):c.2099G>A (p.Cys700Tyr)	AGAP3 (C251Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484616	NM_031946.7(AGAP3):c.2699C>T (p.Pro900Leu)	AGAP3 (P554L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476319	NM_031946.7(AGAP3):c.2455G>A (p.Asp819Asn)	AGAP3 (D488N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474745	NM_031946.7(AGAP3):c.931G>A (p.Val311Met)	AGAP3 (V491M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467431	NM_031946.7(AGAP3):c.2690G>A (p.Gly897Asp)	AGAP3 (G448D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466929	NM_031946.7(AGAP3):c.1654A>G (p.Met552Val)	AGAP3 (M552V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464038	NM_031946.7(AGAP3):c.2168C>T (p.Pro723Leu)	AGAP3 (P274L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458497	NM_031946.7(AGAP3):c.1943G>A (p.Arg648His)	AGAP3 (R302H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427458	NC_000007.13:g.(?_150307047)_(152613597_?)del	ABCB8, ABCF2 +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 2397332	NM_031946.7(AGAP3):c.1240A>C (p.Ser414Arg)	AGAP3 (S68R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397240	NM_031946.7(AGAP3):c.1238G>A (p.Arg413Gln)	AGAP3 (R67Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395195	NM_031946.7(AGAP3):c.149C>T (p.Ser50Leu)	AGAP3 (S50L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2367130	NM_031946.7(AGAP3):c.1165G>A (p.Ala389Thr)	AGAP3 (A389T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359142	NM_031946.7(AGAP3):c.1828G>T (p.Val610Leu)	AGAP3 (V161L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344365	NM_031946.7(AGAP3):c.946A>G (p.Ile316Val)	AGAP3 (I316V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322965	NM_031946.7(AGAP3):c.1031G>A (p.Ser344Asn)	AGAP3 (S116N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2251234	NM_031946.7(AGAP3):c.516G>T (p.Gln172His)	AGAP3 (Q172H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243445	NM_031946.7(AGAP3):c.1571G>A (p.Arg524His)	AGAP3 (R524H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237096	NM_031946.7(AGAP3):c.1508C>T (p.Ser503Leu)	AGAP3 (S503L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230542	NM_031946.7(AGAP3):c.1823A>G (p.Glu608Gly)	AGAP3 (E505G +4 more)	Single nucleotide variant (missense variant)	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	ACTR3C, AGAP3 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	CUL1, DNAJB6 +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 1279697	NM_031946.7(AGAP3):c.756C>T (p.Arg252=)	AGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1068862	NC_000007.13:g.(?_150642443)_(151385353_?)del	RHEB, SLC4A2 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 1027137	NC_000007.13:g.(?_150642453)_(152373165_?)dup	RHEB, SLC4A2 +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	RHEB, SLC4A2 +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 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
Select item 527120	NC_000007.13:g.(?_150642433)_(151573725_?)del	ABCF2, ABCB8 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 442404	GRCh37/hg19 7q36.1-36.3(chr7:150553743-159119707)x3	ACTR3B, AGAP3 +43 more	Copy number gain	See cases	GLikely pathogenic
Select item 442236	GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4	ABCB8, ACTR3C +46 more	Copy number gain	See cases	GUncertain significance

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