FER1L5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 144357	GRCh38/hg38 2q11.1-11.2(chr2:95493468-96977610)x3	ADRA2B, ANKRD23 +126 more	Copy number gain	See cases	GUncertain significance
Select item 148751	GRCh38/hg38 2q11.1-11.2(chr2:95766541-97589743)x3	ADRA2B, ANKRD23 +131 more	Copy number gain	See cases	GUncertain significance
Select item 59308	GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3	ADRA2B, ANKRD23 +127 more	Copy number gain	See cases	GUncertain significance
Select item 59309	GRCh38/hg38 2q11.1-11.2(chr2:95810453-97024341)x3	ADRA2B, ANKRD23 +120 more	Copy number gain	See cases	GUncertain significance
Select item 160960	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 144712	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x1	ADRA2B, ANKRD23 +119 more	Copy number loss	See cases	GPathogenic
Select item 57543	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97285797)x1	ADRA2B, ANKRD23 +126 more	Copy number loss	See cases	GPathogenic
Select item 59310	GRCh38/hg38 2q11.1-11.2(chr2:95880668-97131646)x3	LOC129934346, LOC129934347 +125 more	Copy number gain	See cases	GUncertain significance
Select item 59311	GRCh38/hg38 2q11.1-11.2(chr2:95916534-97024341)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 545284	NC_000002.12:g.(?_96063558)_(97079140_?)del	ADRA2B, ANKRD23 +115 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 153955	GRCh38/hg38 2q11.2(chr2:96066771-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 155075	GRCh38/hg38 2q11.2(chr2:96073560-97589743)x3	ADRA2B, ANKRD23 +123 more	Copy number gain	See cases	GLikely benign
Select item 154733	GRCh38/hg38 2q11.2(chr2:96073560-97513144)x1	KANSL3, LMAN2L +123 more	Copy number loss	See cases	GPathogenic
Select item 146017	GRCh38/hg38 2q11.2(chr2:96073560-97062710)x1	ADRA2B, ANKRD23 +114 more	Copy number loss	See cases	GPathogenic
Select item 147897	GRCh38/hg38 2q11.2(chr2:96100812-97154835)x1	ADRA2B, ANKRD23 +120 more	Copy number loss	See cases	GUncertain significance
Select item 57434	GRCh38/hg38 2q11.2(chr2:96100812-97285797)x1	ADRA2B, ANKRD23 +121 more	Copy number loss	See cases	GPathogenic
Select item 154747	GRCh38/hg38 2q11.2(chr2:96100816-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 3094420	NM_001293083.2(FER1L5):c.59G>A (p.Arg20Lys)	FER1L5 (R20K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515826	NM_001293083.2(FER1L5):c.59G>C (p.Arg20Thr)	FER1L5 (R20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352540	NM_001293083.2(FER1L5):c.127G>A (p.Val43Met)	FER1L5 (V43M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226451	NM_001293083.2(FER1L5):c.163C>T (p.Arg55Cys)	FER1L5 (R55C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494913	NM_001293083.2(FER1L5):c.176A>C (p.Asn59Thr)	FER1L5 (N59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397597	NM_001293083.2(FER1L5):c.281G>A (p.Ser94Asn)	FER1L5 (S94N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604240	NM_001293083.2(FER1L5):c.346G>A (p.Val116Ile)	FER1L5 (V116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469151	NM_001293083.2(FER1L5):c.379G>T (p.Asp127Tyr)	FER1L5 (D127Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094419	NM_001293083.2(FER1L5):c.467C>T (p.Ala156Val)	FER1L5 (A156V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3278501	NM_001293083.2(FER1L5):c.541G>T (p.Gly181Cys)	FER1L5 (G181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208369	NM_001293083.2(FER1L5):c.599G>A (p.Arg200His)	FER1L5 (R200H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345657	NM_001293083.2(FER1L5):c.630T>G (p.Asn210Lys)	FER1L5 (N210K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286926	NM_001293083.2(FER1L5):c.641T>C (p.Phe214Ser)	FER1L5 (F214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405146	NM_001293083.2(FER1L5):c.952G>C (p.Ala318Pro)	FER1L5 (A318P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597792	NM_001293083.2(FER1L5):c.1000G>A (p.Ala334Thr)	FER1L5 (A334T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229386	NM_001293083.2(FER1L5):c.1091C>A (p.Thr364Asn)	FER1L5 (T364N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455347	NM_001293083.2(FER1L5):c.1099G>A (p.Asp367Asn)	FER1L5 (D367N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593966	NM_001293083.2(FER1L5):c.1133G>A (p.Arg378Gln)	FER1L5 (R378Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094389	NM_001293083.2(FER1L5):c.1187G>A (p.Arg396His)	FER1L5 (R396H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520449	NM_001293083.2(FER1L5):c.1202C>T (p.Pro401Leu)	FER1L5 (P401L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094391	NM_001293083.2(FER1L5):c.1244C>T (p.Ser415Leu)	FER1L5 (S415L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558600	NM_001293083.2(FER1L5):c.1267+15G>C	FER1L5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3278489	NM_001293083.2(FER1L5):c.1267+21A>G	FER1L5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2478245	NM_001293083.2(FER1L5):c.1267+27T>C	FER1L5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2591998	NM_001293083.2(FER1L5):c.1270G>C (p.Val424Leu)	FER1L5 (V424L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094392	NM_001293083.2(FER1L5):c.1306T>G (p.Phe436Val)	FER1L5 (F436V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094393	NM_001293083.2(FER1L5):c.1417G>C (p.Glu473Gln)	FER1L5 (E473Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278493	NM_001293083.2(FER1L5):c.1505G>T (p.Arg502Leu)	FER1L5 (R502L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725562	NM_001293083.2(FER1L5):c.1719C>T (p.Ala573=)	FER1L5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2350971	NM_001293083.2(FER1L5):c.1726T>G (p.Ser576Ala)	FER1L5 (S576A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094394	NM_001293083.2(FER1L5):c.1790G>A (p.Arg597His)	FER1L5 (R597H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312788	NM_001293083.2(FER1L5):c.1804C>A (p.Leu602Met)	FER1L5 (L602M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465889	NM_001293083.2(FER1L5):c.1808A>G (p.Asp603Gly)	FER1L5 (D603G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278487	NM_001293083.2(FER1L5):c.1898G>A (p.Arg633His)	FER1L5 (R633H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2205989	NM_001293083.2(FER1L5):c.1906C>T (p.Pro636Ser)	FER1L5 (P636S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608186	NM_001293083.2(FER1L5):c.1925C>T (p.Pro642Leu)	FER1L5 (P642L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278997	NM_001293083.2(FER1L5):c.1930G>A (p.Ala644Thr)	FER1L5 (A644T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454932	NM_001293083.2(FER1L5):c.2033C>T (p.Ala678Val)	FER1L5 (A678V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2308620	NM_001293083.2(FER1L5):c.2050C>T (p.Arg684Cys)	FER1L5 (R684C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1230137	NM_001293083.2(FER1L5):c.2059A>G (p.Thr687Ala)	FER1L5 (T687A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3094395	NM_001293083.2(FER1L5):c.2156C>G (p.Ser719Cys)	FER1L5 (S719C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457819	NM_001293083.2(FER1L5):c.2158G>A (p.Val720Ile)	FER1L5 (V720I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534858	NM_001293083.2(FER1L5):c.2179G>C (p.Ala727Pro)	FER1L5 (A727P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094396	NM_001293083.2(FER1L5):c.2191G>A (p.Gly731Ser)	FER1L5 (G731S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264079	NM_001293083.2(FER1L5):c.2191G>C (p.Gly731Arg)	FER1L5 (G731R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278494	NM_001293083.2(FER1L5):c.2276G>A (p.Arg759Gln)	FER1L5 (R759Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094397	NM_001293083.2(FER1L5):c.2284A>G (p.Met762Val)	FER1L5 (M762V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234465	NM_001293083.2(FER1L5):c.2330G>A (p.Arg777His)	FER1L5 (R777H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393217	NM_001293083.2(FER1L5):c.2353G>A (p.Ala785Thr)	FER1L5 (A785T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094398	NM_001293083.2(FER1L5):c.2462C>T (p.Thr821Met)	FER1L5 (T821M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094399	NM_001293083.2(FER1L5):c.2474C>T (p.Pro825Leu)	FER1L5 (P825L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412180	NM_001293083.2(FER1L5):c.2533C>G (p.Leu845Val)	FER1L5 (L845V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094400	NM_001293083.2(FER1L5):c.2590C>T (p.Arg864Cys)	FER1L5 (R864C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234673	NM_001293083.2(FER1L5):c.2794A>G (p.Ser932Gly)	FER1L5 (S932G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094401	NM_001293083.2(FER1L5):c.2819C>T (p.Ser940Leu)	FER1L5 (S940L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356046	NM_001293083.2(FER1L5):c.2830C>T (p.Arg944Trp)	FER1L5 (R944W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094402	NM_001293083.2(FER1L5):c.2840C>T (p.Ala947Val)	FER1L5 (A947V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324462	NM_001293083.2(FER1L5):c.2843G>T (p.Arg948Leu)	FER1L5 (R948L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094403	NM_001293083.2(FER1L5):c.2849G>T (p.Arg950Leu)	FER1L5 (R950L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376883	NM_001293083.2(FER1L5):c.2884G>A (p.Glu962Lys)	FER1L5 (E962K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495235	NM_001293083.2(FER1L5):c.2888C>T (p.Thr963Ile)	FER1L5 (T963I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375849	NM_001293083.2(FER1L5):c.2964C>G (p.Phe988Leu)	FER1L5 (F988L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094404	NM_001293083.2(FER1L5):c.2989C>T (p.Arg997Trp)	FER1L5 (R997W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395546	NM_001293083.2(FER1L5):c.2990G>A (p.Arg997Gln)	FER1L5 (R997Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094405	NM_001293083.2(FER1L5):c.2995C>T (p.Arg999Cys)	FER1L5 (R999C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318696	NM_001293083.2(FER1L5):c.2996G>A (p.Arg999His)	FER1L5 (R999H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487458	NM_001293083.2(FER1L5):c.3010C>T (p.Arg1004Cys)	FER1L5 (R1004C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533857	NM_001293083.2(FER1L5):c.3011G>A (p.Arg1004His)	FER1L5 (R1004H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094406	NM_001293083.2(FER1L5):c.3014G>A (p.Arg1005His)	FER1L5 (R1005H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094407	NM_001293083.2(FER1L5):c.3076-98G>T	FER1L5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2249050	NM_001293083.2(FER1L5):c.3076-96G>A	FER1L5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2221558	NM_001293083.2(FER1L5):c.3080T>C (p.Met1027Thr)	FER1L5 (M1027T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278500	NM_001293083.2(FER1L5):c.3122C>T (p.Thr1041Ile)	FER1L5 (T1041I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473181	NM_001293083.2(FER1L5):c.3127C>G (p.Pro1043Ala)	FER1L5 (P1043A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511624	NM_001293083.2(FER1L5):c.3190C>A (p.Pro1064Thr)	FER1L5 (P1064T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346434	NM_001293083.2(FER1L5):c.3193T>C (p.Phe1065Leu)	FER1L5 (F1065L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550105	NM_001293083.2(FER1L5):c.3257G>A (p.Arg1086Gln)	FER1L5 (R1086Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538026	NM_001293083.2(FER1L5):c.3350G>A (p.Ser1117Asn)	FER1L5 (S1117N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337193	NM_001293083.2(FER1L5):c.3367T>A (p.Trp1123Arg)	FER1L5 (W1123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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