AGAP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	GBX2, GBX2-AS1 +180 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 58937	GRCh38/hg38 2q37.2(chr2:234731742-235717851)x3	AGAP1, AGAP1-IT1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 1971544	NM_001037131.3(AGAP1):c.13C>G (p.Gln5Glu)	AGAP1 (Q5E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132348	NM_001037131.3(AGAP1):c.24C>A (p.Ala8=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054879	NM_001037131.3(AGAP1):c.36C>T (p.Ala12=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123242	NM_001037131.3(AGAP1):c.40C>T (p.Arg14Trp)	AGAP1 (R14W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060864	NM_001037131.3(AGAP1):c.41G>A (p.Arg14Gln)	AGAP1 (R14Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105333	NM_001037131.3(AGAP1):c.76A>G (p.Asn26Asp)	AGAP1 (N26D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2550706	NM_001037131.3(AGAP1):c.107G>A (p.Arg36His)	AGAP1 (R36H)	Single nucleotide variant (missense variant)	not specified	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 2013594	NM_001037131.3(AGAP1):c.132C>T (p.Asn44=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2060668	NM_001037131.3(AGAP1):c.156C>T (p.Ala52=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972441	NM_001037131.3(AGAP1):c.163+4A>T	AGAP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2110462	NM_001037131.3(AGAP1):c.163+12G>C	AGAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972969	NM_001037131.3(AGAP1):c.163+18T>C	AGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 155004	GRCh38/hg38 2q37.2(chr2:235561704-235881137)x1	AGAP1, LOC110120691 +7 more	Copy number loss	See cases	GLikely benign
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 148634	GRCh38/hg38 2q37.2(chr2:235629892-235908482)x1	AGAP1, LOC110120691 +5 more	Copy number loss	See cases	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 2078711	NM_001037131.3(AGAP1):c.164-11_164-9del	AGAP1, LOC126806566	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2100182	NM_001037131.3(AGAP1):c.164-14C>T	AGAP1, LOC126806566	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974346	NM_001037131.3(AGAP1):c.164-11C>G	AGAP1, LOC126806566	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1976317	NM_001037131.3(AGAP1):c.165T>C (p.Asp55=)	AGAP1, LOC126806566	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 2193917	NM_001037131.3(AGAP1):c.171C>T (p.Phe57=)	AGAP1, LOC126806566	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2367052	NM_001037131.3(AGAP1):c.203C>T (p.Ser68Phe)	AGAP1, LOC126806566 (S68F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2040856	NM_001037131.3(AGAP1):c.209C>T (p.Pro70Leu)	AGAP1, LOC126806566 (P70L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003469	NM_001037131.3(AGAP1):c.210G>A (p.Pro70=)	AGAP1, LOC126806566	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2320125	NM_001037131.3(AGAP1):c.218A>G (p.Lys73Arg)	AGAP1, LOC126806566 (K73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2807572	NM_001037131.3(AGAP1):c.222+4A>G	AGAP1, LOC126806566	Single nucleotide variant (intron 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 2873528	NM_001037131.3(AGAP1):c.223-17G>C	AGAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970964	NM_001037131.3(AGAP1):c.223-14C>T	AGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1402915	NM_001037131.3(AGAP1):c.247G>A (p.Gly83Ser)	AGAP1 (G83S)	Single nucleotide variant (missense 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 2869463	NM_001037131.3(AGAP1):c.279G>A (p.Thr93=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018809	NM_001037131.3(AGAP1):c.287A>G (p.Tyr96Cys)	AGAP1 (Y96C)	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 2203289	NM_001037131.3(AGAP1):c.341A>T (p.Asp114Val)	AGAP1 (D114V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 733987	NM_001037131.3(AGAP1):c.375A>G (p.Glu125=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2744599	NM_001037131.3(AGAP1):c.386dup (p.Glu130fs)	AGAP1 (E130fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2063963	NM_001037131.3(AGAP1):c.393G>T (p.Ala131=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
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 2106224	NM_001037131.3(AGAP1):c.424T>G (p.Phe142Val)	AGAP1 (F142V)	Single nucleotide variant (missense variant)	not provided	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 2260399	NM_001037131.3(AGAP1):c.427G>A (p.Val143Ile)	AGAP1 (V143I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1982661	NM_001037131.3(AGAP1):c.438G>A (p.Leu146=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419497	NM_001037131.3(AGAP1):c.469C>T (p.His157Tyr)	AGAP1 (H157Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3093636	NM_001037131.3(AGAP1):c.494A>G (p.Tyr165Cys)	AGAP1 (Y165C)	Single nucleotide variant (missense variant)	not specified	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 778052	NM_001037131.3(AGAP1):c.504G>A (p.Thr168=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1984321	NM_001037131.3(AGAP1):c.522T>C (p.Val174=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791797	NM_001037131.3(AGAP1):c.534C>T (p.Thr178=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015317	NM_001037131.3(AGAP1):c.538+4A>G	AGAP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2916983	NM_001037131.3(AGAP1):c.561G>A (p.Pro187=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842692	NM_001037131.3(AGAP1):c.567C>G (p.Val189=)	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 1939535	NM_001037131.3(AGAP1):c.571G>A (p.Asp191Asn)	AGAP1 (D191N)	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 2160948	NM_001037131.3(AGAP1):c.576C>T (p.Asp192=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158533	NM_001037131.3(AGAP1):c.577G>A (p.Ala193Thr)	AGAP1 (A193T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 796313	NM_001037131.3(AGAP1):c.600C>T (p.Asn200=)	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 2038389	NM_001037131.3(AGAP1):c.630G>A (p.Thr210=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969633	NM_001037131.3(AGAP1):c.642C>T (p.Tyr214=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037561	NM_001037131.3(AGAP1):c.651T>C (p.Asn217=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1971130	NM_001037131.3(AGAP1):c.673+7G>A	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 152790	GRCh38/hg38 2q37.2(chr2:235757098-235908423)x1	AGAP1, LOC110120691 +3 more	Copy number loss	See cases	GUncertain significance
Select item 148764	GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1	ACKR3, AGAP1 +144 more	Copy number loss	See cases	GPathogenic
Select item 1972009	NM_001037131.3(AGAP1):c.674-15_674-12del	AGAP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1973985	NM_001037131.3(AGAP1):c.674-13G>T	AGAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973480	NM_001037131.3(AGAP1):c.711G>A (p.Gln237=)	AGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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