ClinVar for Gene (Select 116987) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275093	NM_001037131.3(AGAP1):c.2054C>T (p.Ala685Val)	AGAP1 (A685V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275084	NM_001037131.3(AGAP1):c.425T>C (p.Phe142Ser)	AGAP1 (F142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275073	NM_001037131.3(AGAP1):c.2528A>G (p.Asn843Ser)	AGAP1 (N790S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275062	NM_001037131.3(AGAP1):c.1868A>T (p.His623Leu)	AGAP1 (H570L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275032	NM_001037131.3(AGAP1):c.2428C>T (p.Arg810Trp)	AGAP1 (R810W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247550	NC_000002.11:g.(?_236617803)_(237032766_?)dup	AGAP1	Duplication	not provided	GUncertain significance
Select item 3247549	NC_000002.11:g.(?_236877086)_(237032766_?)dup	AGAP1	Duplication	not provided	GUncertain significance
Select item 3247548	NC_000002.11:g.(?_236403331)_(236626308_?)dup	AGAP1	Duplication	not provided	GUncertain significance
Select item 3247547	NC_000002.11:g.(?_236791969)_(236877287_?)del	AGAP1	Deletion	not provided	GUncertain significance
Select item 3242308	GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3093647	NM_001037131.3(AGAP1):c.815G>T (p.Gly272Val)	AGAP1 (G272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093636	NM_001037131.3(AGAP1):c.494A>G (p.Tyr165Cys)	AGAP1 (Y165C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093624	NM_001037131.3(AGAP1):c.2500A>G (p.Met834Val)	AGAP1 (M834V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093601	NM_001037131.3(AGAP1):c.2047G>A (p.Glu683Lys)	AGAP1 (E630K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093593	NM_001037131.3(AGAP1):c.2038A>G (p.Ile680Val)	AGAP1 (I627V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093591	NM_001037131.3(AGAP1):c.2024A>G (p.Lys675Arg)	AGAP1 (K622R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093578	NM_001037131.3(AGAP1):c.1811C>T (p.Thr604Met)	AGAP1 (T551M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093574	NM_001037131.3(AGAP1):c.1745C>T (p.Ala582Val)	AGAP1 (A529V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093558	NM_001037131.3(AGAP1):c.1486A>G (p.Thr496Ala)	AGAP1 (T496A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093536	NM_001037131.3(AGAP1):c.1079C>G (p.Ser360Trp)	AGAP1 (S360W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062646	GRCh37/hg19 2q37.2(chr2:236869918-236918421)x1	AGAP1	Copy number loss	not specified	GUncertain significance
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3022917	NM_001037131.3(AGAP1):c.1716G>A (p.Thr572=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018301	NM_001037131.3(AGAP1):c.2305G>A (p.Gly769Ser)	AGAP1 (G716S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016759	NM_001037131.3(AGAP1):c.1549G>A (p.Asp517Asn)	AGAP1 (D517N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015317	NM_001037131.3(AGAP1):c.538+4A>G	AGAP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3014554	NM_001037131.3(AGAP1):c.2428C>G (p.Arg810Gly)	AGAP1 (R757G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001855	NM_001037131.3(AGAP1):c.2472C>T (p.Tyr824=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977727	NM_001037131.3(AGAP1):c.1713G>A (p.Thr571=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970465	NM_001037131.3(AGAP1):c.763G>A (p.Val255Ile)	AGAP1 (V255I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919822	NM_001037131.3(AGAP1):c.790C>T (p.His264Tyr)	AGAP1 (H264Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2916983	NM_001037131.3(AGAP1):c.561G>A (p.Pro187=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906885	NM_001037131.3(AGAP1):c.771C>T (p.Ser257=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906163	NM_001037131.3(AGAP1):c.1731C>T (p.Asp577=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904963	NM_001037131.3(AGAP1):c.922C>T (p.Arg308Cys)	AGAP1 (R308C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898863	NM_001037131.3(AGAP1):c.496C>T (p.Arg166Trp)	AGAP1 (R166W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898816	NM_001037131.3(AGAP1):c.574G>A (p.Asp192Asn)	AGAP1 (D192N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897886	NM_001037131.3(AGAP1):c.1129G>A (p.Val377Met)	AGAP1 (V377M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895891	NM_001037131.3(AGAP1):c.1821C>T (p.Ser607=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893974	NM_001037131.3(AGAP1):c.993A>G (p.Lys331=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893966	NM_001037131.3(AGAP1):c.570C>T (p.Ile190=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2891131	NM_001037131.3(AGAP1):c.1892-4G>A	AGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2890175	NM_001037131.3(AGAP1):c.1608C>T (p.Ser536=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890154	NM_001037131.3(AGAP1):c.849A>G (p.Pro283=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2886508	NM_001037131.3(AGAP1):c.1882G>A (p.Glu628Lys)	AGAP1 (E575K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886000	NM_001037131.3(AGAP1):c.2479C>T (p.Pro827Ser)	AGAP1 (P774S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2883290	NM_001037131.3(AGAP1):c.1504G>A (p.Val502Ile)	AGAP1 (V449I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880898	NM_001037131.3(AGAP1):c.332T>C (p.Ile111Thr)	AGAP1 (I111T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876410	NM_001037131.3(AGAP1):c.1629G>C (p.Leu543=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874891	NM_001037131.3(AGAP1):c.154G>T (p.Ala52Ser)	AGAP1 (A52S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873528	NM_001037131.3(AGAP1):c.223-17G>C	AGAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872321	NM_001037131.3(AGAP1):c.1630T>G (p.Ser544Ala)	AGAP1 (S491A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872099	NM_001037131.3(AGAP1):c.915G>A (p.Thr305=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871279	NM_001037131.3(AGAP1):c.714G>A (p.Leu238=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871278	NM_001037131.3(AGAP1):c.624C>T (p.Tyr208=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870873	NM_001037131.3(AGAP1):c.2164C>A (p.Leu722Met)	AGAP1 (L669M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870430	NM_001037131.3(AGAP1):c.2370+17C>T	AGAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870150	NM_001037131.3(AGAP1):c.255T>G (p.Ser85=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869905	NM_001037131.3(AGAP1):c.1248C>T (p.Ala416=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869861	NM_001037131.3(AGAP1):c.802-20T>A	AGAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869463	NM_001037131.3(AGAP1):c.279G>A (p.Thr93=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868794	NM_001037131.3(AGAP1):c.909G>T (p.Thr303=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868578	NM_001037131.3(AGAP1):c.1645+12G>C	AGAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868420	NM_001037131.3(AGAP1):c.673+11G>A	AGAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853763	NM_001037131.3(AGAP1):c.2316G>A (p.Ala772=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847319	NM_001037131.3(AGAP1):c.1242G>A (p.Thr414=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843967	NM_001037131.3(AGAP1):c.169T>A (p.Phe57Ile)	AGAP1, LOC126806566 (F57I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842692	NM_001037131.3(AGAP1):c.567C>G (p.Val189=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838872	NM_001037131.3(AGAP1):c.2485G>A (p.Glu829Lys)	AGAP1 (E776K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835838	NM_001037131.3(AGAP1):c.2372A>G (p.Tyr791Cys)	AGAP1 (Y791C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834598	NM_001037131.3(AGAP1):c.1898A>G (p.Asn633Ser)	AGAP1 (N633S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824143	NM_001037131.3(AGAP1):c.164-19G>C	AGAP1, LOC126806566	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820815	NM_001037131.3(AGAP1):c.789G>A (p.Val263=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807572	NM_001037131.3(AGAP1):c.222+4A>G	AGAP1, LOC126806566	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2807247	NM_001037131.3(AGAP1):c.1108G>A (p.Val370Ile)	AGAP1 (V370I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806104	NM_001037131.3(AGAP1):c.1965C>T (p.Gly655=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803102	NM_001037131.3(AGAP1):c.1990C>T (p.Leu664=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801388	NM_001037131.3(AGAP1):c.368G>T (p.Arg123Ile)	AGAP1 (R123I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799044	NM_001037131.3(AGAP1):c.1804C>T (p.Arg602Trp)	AGAP1 (R602W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799008	NM_001037131.3(AGAP1):c.176A>G (p.Asn59Ser)	AGAP1, LOC126806566 (N59S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791797	NM_001037131.3(AGAP1):c.534C>T (p.Thr178=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789809	NM_001037131.3(AGAP1):c.2286G>A (p.Glu762=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787174	NM_001037131.3(AGAP1):c.1484-12G>A	AGAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786145	NM_001037131.3(AGAP1):c.719T>C (p.Ile240Thr)	AGAP1 (I240T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782687	NM_001037131.3(AGAP1):c.1672A>G (p.Ile558Val)	AGAP1 (I558V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768088	NM_001037131.3(AGAP1):c.2489G>C (p.Arg830Pro)	AGAP1 (R830P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2744599	NM_001037131.3(AGAP1):c.386dup (p.Glu130fs)	AGAP1 (E130fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2729080	NM_001037131.3(AGAP1):c.222+20C>T	AGAP1, LOC126806566	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724246	NM_001037131.3(AGAP1):c.482G>A (p.Arg161Gln)	AGAP1 (R161Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721046	NM_001037131.3(AGAP1):c.422T>C (p.Ile141Thr)	AGAP1 (I141T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720785	NM_001037131.3(AGAP1):c.109G>T (p.Val37Leu)	AGAP1 (V37L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2718623	NM_001037131.3(AGAP1):c.2387C>T (p.Thr796Met)	AGAP1 (T796M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2717204	NM_001037131.3(AGAP1):c.919G>A (p.Val307Ile)	AGAP1 (V307I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716697	NM_001037131.3(AGAP1):c.2224G>A (p.Asp742Asn)	AGAP1 (D742N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715660	NM_001037131.3(AGAP1):c.2087G>A (p.Arg696Gln)	AGAP1 (R643Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713255	NM_001037131.3(AGAP1):c.1801-8G>A	AGAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712776	NM_001037131.3(AGAP1):c.1801-7T>C	AGAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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