25913[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 152806	GRCh38/hg38 2q13-14.1(chr2:110577566-112331529)x3	ACOXL, ACOXL-AS1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 144476	GRCh38/hg38 2q13-14.1(chr2:110611255-112308202)x1	ACOXL, ACOXL-AS1 +51 more	Copy number loss	See cases	GUncertain significance
Select item 154032	GRCh38/hg38 2q13-14.1(chr2:110631042-112354279)x1	LOC129934578, LOC129934579 +50 more	Copy number loss	See cases	GUncertain significance
Select item 59323	GRCh38/hg38 2q13-14.1(chr2:110634620-112345017)x3	ACOXL, ACOXL-AS1 +50 more	Copy number gain	See cases	GUncertain significance
Select item 57565	GRCh38/hg38 2q13-14.1(chr2:110638242-112244051)x1	ACOXL, ACOXL-AS1 +45 more	Copy number loss	See cases	GUncertain significance
Select item 57564	GRCh38/hg38 2q13-14.1(chr2:110638242-112317901)x1	ACOXL, ACOXL-AS1 +50 more	Copy number loss	See cases	GUncertain significance
Select item 223093	NC_000002.12:g.(?_110649261)_(112345017_?)del	ACOXL, ACOXL-AS1 +50 more	Deletion	not provided	GLikely pathogenic
Select item 148494	GRCh38/hg38 2q13-14.1(chr2:110649261-112331529)x1	ACOXL, ACOXL-AS1 +50 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 148389	GRCh38/hg38 2q13-14.1(chr2:110649261-112379067)x3	ACOXL, ACOXL-AS1 +51 more	Copy number gain	See cases	GLikely benign
Select item 59324	GRCh38/hg38 2q13-14.1(chr2:110684353-112308343)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 161046	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 160844	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GUncertain significance
Select item 151397	GRCh38/hg38 2q13-14.1(chr2:110684553-112344958)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 32080	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GUncertain significance
Select item 154416	GRCh38/hg38 2q13-14.1(chr2:110684598-112308164)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 2579232	GRCh38/hg38 2q13(chr2:111940205-112055854)x1	LOC112806037, LOC122817727 +4 more	Copy number loss	Retinitis pigmentosa 38	GPathogenic
Select item 2265632	NM_032824.3(TMEM87B):c.10G>T (p.Ala4Ser)	TMEM87B (A4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519822	NM_032824.3(TMEM87B):c.17G>A (p.Arg6His)	TMEM87B (R6H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179692	NM_032824.3(TMEM87B):c.40C>A (p.Arg14Ser)	TMEM87B (R14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327203	NM_032824.3(TMEM87B):c.67G>C (p.Ala23Pro)	TMEM87B (A23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260166	NM_032824.3(TMEM87B):c.106A>G (p.Thr36Ala)	TMEM87B (T36A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2605190	NM_032824.3(TMEM87B):c.250C>A (p.Pro84Thr)	TMEM87B (P84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273112	NM_032824.3(TMEM87B):c.287A>G (p.His96Arg)	TMEM87B (H96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3458612	NM_032824.3(TMEM87B):c.297C>A (p.His99Gln)	TMEM87B (H99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3458611	NM_032824.3(TMEM87B):c.298A>G (p.Asn100Asp)	TMEM87B (N100D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537780	NM_032824.3(TMEM87B):c.334C>T (p.His112Tyr)	TMEM87B (H112Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546849	NM_032824.3(TMEM87B):c.386G>T (p.Cys129Phe)	TMEM87B (C129F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265382	NM_032824.3(TMEM87B):c.392C>G (p.Thr131Arg)	TMEM87B (T131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553729	NM_032824.3(TMEM87B):c.395C>A (p.Thr132Lys)	TMEM87B (T132K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179693	NM_032824.3(TMEM87B):c.502G>C (p.Asp168His)	TMEM87B (D168H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299155	NM_032824.3(TMEM87B):c.527A>T (p.Asp176Val)	TMEM87B (D176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025309	NM_032824.3(TMEM87B):c.531G>A (p.Gly177=)	TMEM87B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2603452	NM_032824.3(TMEM87B):c.566A>G (p.Asn189Ser)	TMEM87B (N189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327204	NM_032824.3(TMEM87B):c.604A>G (p.Met202Val)	TMEM87B (M202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518478	NM_032824.3(TMEM87B):c.655T>C (p.Phe219Leu)	TMEM87B (F219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538625	NM_032824.3(TMEM87B):c.669G>A (p.Met223Ile)	TMEM87B (M223I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510989	NM_032824.3(TMEM87B):c.673A>G (p.Ile225Val)	TMEM87B (I225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179694	NM_032824.3(TMEM87B):c.707C>T (p.Thr236Met)	TMEM87B (T236M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3458610	NM_032824.3(TMEM87B):c.731A>G (p.Asp244Gly)	TMEM87B (D244G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226878	NM_032824.3(TMEM87B):c.887C>T (p.Thr296Met)	TMEM87B (T296M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381919	NM_032824.3(TMEM87B):c.910A>C (p.Ile304Leu)	TMEM87B (I304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518922	NM_032824.3(TMEM87B):c.911T>C (p.Ile304Thr)	TMEM87B (I304T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245885	NM_032824.3(TMEM87B):c.944G>A (p.Arg315His)	TMEM87B (R315H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3458613	NM_032824.3(TMEM87B):c.962A>G (p.His321Arg)	TMEM87B (H321R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518934	NM_032824.3(TMEM87B):c.965G>C (p.Arg322Pro)	TMEM87B (R322P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484707	NM_032824.3(TMEM87B):c.965G>A (p.Arg322Gln)	TMEM87B (R322Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301990	NM_032824.3(TMEM87B):c.974G>C (p.Gly325Ala)	TMEM87B (G325A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327206	NM_032824.3(TMEM87B):c.1004C>G (p.Ala335Gly)	TMEM87B (A335G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306486	NM_032824.3(TMEM87B):c.1031G>A (p.Gly344Glu)	TMEM87B (G344E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301667	NM_032824.3(TMEM87B):c.1102T>C (p.Phe368Leu)	TMEM87B (F368L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322293	NM_032824.3(TMEM87B):c.1134G>T (p.Lys378Asn)	TMEM87B (K378N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348824	NM_032824.3(TMEM87B):c.1185T>A (p.Phe395Leu)	TMEM87B (F395L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375360	NM_032824.3(TMEM87B):c.1219A>G (p.Ile407Val)	TMEM87B (I407V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294778	NM_032824.3(TMEM87B):c.1220T>C (p.Ile407Thr)	TMEM87B (I407T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179691	NM_032824.3(TMEM87B):c.1285C>T (p.Arg429Cys)	TMEM87B (R429C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570290	NM_032824.3(TMEM87B):c.1322C>T (p.Ser441Leu)	TMEM87B (S441L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 223092	NM_032824.3(TMEM87B):c.1366A>G (p.Asn456Asp)	TMEM87B (N456D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2229821	NM_032824.3(TMEM87B):c.1377A>C (p.Arg459Ser)	TMEM87B (R459S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476525	NM_032824.3(TMEM87B):c.1558C>G (p.Pro520Ala)	TMEM87B (P520A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518600	NM_032824.3(TMEM87B):c.1660A>G (p.Ile554Val)	TMEM87B (I554V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392276	GRCh37/hg19 2q13(chr2:112536286-113788100)x1	ANAPC1, CHCHD5 +17 more	Copy number loss	not provided	GUncertain significance
Select item 3391988	GRCh37/hg19 2q13(chr2:112078059-113033455)x3	ANAPC1, FBLN7 +4 more	Copy number gain	not provided	GUncertain significance
Select item 3148895	GRCh37/hg19 2q13(chr2:111397950-113111856)x1	ACOXL, ANAPC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062640	GRCh37/hg19 2q13(chr2:112591111-112866746)x1	ANAPC1, MERTK +1 more	Copy number loss	not specified	GUncertain significance
Select item 3062558	GRCh37/hg19 2q12.2-13(chr2:107032426-113111856)x1	ACOXL, ANAPC1 +27 more	Copy number loss	not specified	GPathogenic
Select item 2684642	GRCh37/hg19 2q12.2-13(chr2:107029681-113127751)x1	ACOXL, ANAPC1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2652124	GRCh37/hg19 2q13(chr2:110873265-113090065)x1	ACOXL, ANAPC1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2580318	GRCh37/hg19 2q13(chr2:111335152-113127204)x1	ACOXL, ANAPC1 +9 more	Copy number loss	2q13 microdeletion syndrome	GPathogenic
Select item 2578904	GRCh37/hg19 2q13(chr2:111395541-113090065)x1	BUB1, FBLN7 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2498870	GRCh37/hg19 2q13(chr2:111368292-113191030)x1	ACOXL, ANAPC1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 1808718	GRCh37/hg19 2q13(chr2:111366256-113127751)x1	ACOXL, ANAPC1 +8 more	Copy number loss	not provided	GPathogenic
Select item 1808680	GRCh37/hg19 2q13(chr2:111365996-113111856)x3	ACOXL, ANAPC1 +7 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808613	GRCh37/hg19 2q13(chr2:111397786-113111856)x3	ACOXL, ANAPC1 +7 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808110	GRCh37/hg19 2q13(chr2:112632313-113015512)x3	ANAPC1, FBLN7 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807763	GRCh37/hg19 2q13(chr2:111369264-113142794)x1	RGPD8, TMEM87B +8 more	Copy number loss	not provided	GPathogenic
Select item 1705942	GRCh37/hg19 2q13(chr2:111365995-113199850)x3	ACOXL, ANAPC1 +8 more	Copy number gain	Anemia, unspecified	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1340988	GRCh37/hg19 2q13(chr2:112626034-112876212)x3	ANAPC1, MERTK +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339812	GRCh37/hg19 2q13(chr2:112658687-112833108)x1	TMEM87B, MERTK	Copy number loss	Retinitis pigmentosa 38	Gnot provided
Select item 1339793	GRCh37/hg19 2q13(chr2:111409518-113127751)x3	ACOXL, ANAPC1 +8 more	Copy number gain	not provided	Gnot provided
Select item 983183	GRCh37/hg19 2q13(chr2:111368818-113065741)x3	ZC3H6, ANAPC1 +7 more	Copy number gain	See cases	GLikely pathogenic
Select item 980472	GRCh37/hg19 2q13(chr2:112595631-112949518)x3	FBLN7, MERTK +2 more	Copy number gain	not provided	GUncertain significance
Select item 980471	GRCh37/hg19 2q13(chr2:112606791-112911923)x3	MERTK, TMEM87B +2 more	Copy number gain	not provided	GUncertain significance
Select item 980469	GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1	ANAPC1, SULT1C4 +28 more	Copy number loss	not provided	GPathogenic
Select item 688991	GRCh37/hg19 2q13(chr2:112690808-112816923)x1	MERTK, TMEM87B	Copy number loss	not provided	GUncertain significance
Select item 688671	GRCh37/hg19 2q13(chr2:111388619-113137529)x3	ACOXL, ANAPC1 +8 more	Copy number gain	not provided	GPathogenic
Select item 688640	GRCh37/hg19 2q13(chr2:112690808-112816923)x1	MERTK, TMEM87B	Copy number loss	not provided	GUncertain significance
Select item 688528	GRCh37/hg19 2q13(chr2:112690808-112816923)x1	MERTK, TMEM87B	Copy number loss	not provided	GUncertain significance
Select item 687833	GRCh37/hg19 2q13(chr2:112690808-112816923)x1	MERTK, TMEM87B	Copy number loss	not provided	GUncertain significance
Select item 687786	GRCh37/hg19 2q13(chr2:111388619-113199850)x3	ACOXL, ANAPC1 +8 more	Copy number gain	not provided	GPathogenic
Select item 687604	GRCh37/hg19 2q13(chr2:112690808-112815692)x1	MERTK, TMEM87B	Copy number loss	not provided	GUncertain significance
Select item 687241	GRCh37/hg19 2q13(chr2:112416673-112815692)x3	ANAPC1, MERTK +1 more	Copy number gain	not provided	GUncertain significance
Select item 686976	GRCh37/hg19 2q13(chr2:112676841-112819601)x1	MERTK, TMEM87B	Copy number loss	not provided	GUncertain significance
Select item 686865	GRCh37/hg19 2q13(chr2:111382460-113115979)x3	ACOXL, ANAPC1 +7 more	Copy number gain	not provided	GPathogenic
Select item 686485	GRCh37/hg19 2q13(chr2:111382460-113137975)x3	ACOXL, ANAPC1 +8 more	Copy number gain	not provided	GPathogenic
Select item 625831	GRCh37/hg19 2q13(chr2:111395603-113251000)	ACOXL, ANAPC1 +9 more	Copy number loss	not provided	GLikely pathogenic

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