9112[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	ADSS1, AHNAK2 +304 more	Copy number gain	See cases	GPathogenic
Select item 57841	GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154736	GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154247	GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	ADSS1, AHNAK2 +241 more	Copy number loss	See cases	GPathogenic
Select item 146500	GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1	ADSS1, AHNAK2 +216 more	Copy number loss	See cases	GUncertain significance
Select item 150815	GRCh38/hg38 14q32.33(chr14:104872858-105605042)x3	AHNAK2, BRF1 +85 more	Copy number gain	See cases	GUncertain significance
Select item 146061	GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1	AHNAK2, BRF1 +185 more	Copy number loss	See cases	GUncertain significance
Select item 146639	GRCh38/hg38 14q32.33(chr14:105023396-106850750)x1	IGHV1-46, IGHV1-58 +174 more	Copy number loss	See cases	GPathogenic
Select item 149902	GRCh38/hg38 14q32.33(chr14:105105705-106879501)x1	BRF1, BTBD6 +156 more	Copy number loss	See cases	GUncertain significance
Select item 153898	GRCh38/hg38 14q32.33(chr14:105138612-106877229)x1	LOC130056686, LOC130056687 +156 more	Copy number loss	See cases	GUncertain significance
Select item 57494	GRCh38/hg38 14q32.33(chr14:105141364-106855263)x1	BRF1, BTBD6 +154 more	Copy number loss	See cases	GUncertain significance
Select item 153795	GRCh38/hg38 14q32.33(chr14:105224887-106877229)x6	BRF1, BTBD6 +152 more	Copy number gain	See cases	GUncertain significance
Select item 3296505	NM_004689.4(MTA1):c.184C>A (p.His62Asn)	MTA1 (H62N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213131	NM_004689.4(MTA1):c.224C>T (p.Ala75Val)	MTA1 (A75V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213133	NM_004689.4(MTA1):c.414G>C (p.Lys138Asn)	MTA1 (K121N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154889	GRCh38/hg38 14q32.33(chr14:105453295-106879298)x1	CRIP1, CRIP2 +127 more	Copy number loss	See cases	GPathogenic
Select item 2408845	NM_004689.4(MTA1):c.553G>A (p.Glu185Lys)	MTA1 (E185K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213139	NM_004689.4(MTA1):c.611C>G (p.Pro204Arg)	MTA1 (P204R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242517	NM_004689.4(MTA1):c.710G>A (p.Ser237Asn)	MTA1 (S220N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207890	NM_004689.4(MTA1):c.881A>G (p.Asn294Ser)	MTA1 (N277S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 146586	GRCh38/hg38 14q32.33(chr14:105463515-105530212)x3	CRIP1, CRIP2 +17 more	Copy number gain	See cases	GBenign
Select item 3213045	NM_004689.4(MTA1):c.1089T>G (p.Asn363Lys)	MTA1 (N346K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268859	NM_004689.4(MTA1):c.1138A>C (p.Thr380Pro)	MTA1 (T363P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350070	NM_004689.4(MTA1):c.1354G>A (p.Gly452Ser)	MTA1 (G435S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2348562	NM_004689.4(MTA1):c.1360C>G (p.Pro454Ala)	MTA1 (P437A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213062	NM_004689.4(MTA1):c.1385A>G (p.Lys462Arg)	MTA1 (K445R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2264982	NM_004689.4(MTA1):c.1385A>C (p.Lys462Thr)	MTA1 (K462T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 807187	NM_004689.4(MTA1):c.1424C>T (p.Thr475Met)	MTA1 (T475M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2256794	NM_004689.4(MTA1):c.1436C>T (p.Thr479Met)	MTA1 (T462M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2312303	NM_004689.4(MTA1):c.1582C>A (p.Gln528Lys)	MTA1 (Q511K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3296508	NM_004689.4(MTA1):c.1589T>C (p.Val530Ala)	MTA1 (V513A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2532737	NM_004689.4(MTA1):c.1609G>C (p.Val537Leu)	MTA1 (V537L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2339169	NM_004689.4(MTA1):c.1636C>T (p.Arg546Cys)	MTA1 (R529C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2329116	NM_004689.4(MTA1):c.1642C>G (p.Pro548Ala)	MTA1 (P531A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2376500	NM_004689.4(MTA1):c.1643C>G (p.Pro548Arg)	MTA1 (P548R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213098	NM_004689.4(MTA1):c.1657G>A (p.Val553Met)	MTA1 (V536M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 768684	NM_004689.4(MTA1):c.1666G>A (p.Val556Met)	MTA1 (V556M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3213105	NM_004689.4(MTA1):c.1696G>A (p.Ala566Thr)	MTA1 (A566T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2305558	NM_004689.4(MTA1):c.1827C>A (p.His609Gln)	MTA1 (H592Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3296506	NM_004689.4(MTA1):c.1842C>G (p.His614Gln)	MTA1 (H602Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2257467	NM_004689.4(MTA1):c.1855C>T (p.Arg619Trp)	MTA1 (R607W +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213113	NM_004689.4(MTA1):c.1925C>A (p.Pro642Gln)	MTA1 (P625Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 725085	NM_004689.4(MTA1):c.1956C>T (p.Asp652=)	MTA1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2261777	NM_004689.4(MTA1):c.2024C>T (p.Ser675Leu)	MTA1 (S658L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2621935	NM_004689.4(MTA1):c.2045G>A (p.Arg682His)	MTA1 (R665H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213124	NM_004689.4(MTA1):c.2111C>T (p.Ala704Val)	MTA1 (A687V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2385417	NM_004689.4(MTA1):c.2116G>A (p.Val706Ile)	MTA1 (V706I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2370959	NM_004689.4(MTA1):c.2122G>C (p.Asp708His)	MTA1 (D696H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3242321	GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1	ADSS1, AHNAK2 +70 more	Copy number loss	not provided	GPathogenic
Select item 3148870	GRCh37/hg19 14q32.33(chr14:105516659-107284437)x3	BRF1, BTBD6 +22 more	Copy number gain	See cases	GUncertain significance
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	CLBA1, COA8 +65 more	Copy number loss	not specified	GPathogenic
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	IGHV3-23, INF2 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684747	GRCh37/hg19 14q32.33(chr14:105122914-107285437)x3	CDCA4, IGHA2 +32 more	Copy number gain	not provided	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2577008	GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1	ADSS1, AHNAK2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2423705	NC_000014.8:g.(?_105850747)_(105956197_?)del	CRIP1, CRIP2 +4 more	Deletion	not provided	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1526437	GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437)	PACS2, PLD4 +67 more	Copy number loss	not specified	GPathogenic
Select item 1341203	GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1	ADSS1, AHNAK2 +60 more	Copy number loss	not provided	GPathogenic
Select item 980625	GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1	BRF1, AHNAK2 +62 more	Copy number loss	not provided	GPathogenic
Select item 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	KIF26A, KLC1 +112 more	Copy number loss	See cases	GPathogenic
Select item 815684	GRCh37/hg19 14q32.33(chr14:105690721-106019451)x3	BTBD6, TMEM121 +7 more	Copy number gain	not provided	GUncertain significance
Select item 815683	GRCh37/hg19 14q32.33(chr14:105303584-107285437)x1	IGHA2, CEP170B +27 more	Copy number loss	not provided	GPathogenic
Select item 815682	GRCh37/hg19 14q32.33(chr14:104764078-107285437)x1	ZBTB42, ADSS1 +34 more	Copy number loss	not provided	GPathogenic
Select item 815679	GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	RCOR1, TNFAIP2 +56 more	Copy number loss	not provided	GPathogenic
Select item 688581	GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3	ADSS1, AHNAK2 +104 more	Copy number gain	not provided	GPathogenic
Select item 688307	GRCh37/hg19 14q32.33(chr14:105708746-106020555)x3	BRF1, BTBD6 +7 more	Copy number gain	not provided	GUncertain significance
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic
Select item 687726	GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1	INF2, JAG2 +67 more	Copy number loss	not provided	GPathogenic
Select item 687600	GRCh37/hg19 14q32.33(chr14:105067651-107285437)x1	ADSS1, AHNAK2 +33 more	Copy number loss	not provided	GUncertain significance
Select item 687405	GRCh37/hg19 14q32.33(chr14:105500759-106044679)x3	PACS2, TEDC1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 687365	GRCh37/hg19 14q32.33(chr14:105770143-106207205)x3	BRF1, CRIP1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 686480	GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1	ADSS1, AHNAK2 +58 more	Copy number loss	not provided	GPathogenic
Select item 685986	GRCh37/hg19 14q32.33(chr14:105677530-106044679)x3	BRF1, BTBD6 +8 more	Copy number gain	not provided	GUncertain significance
Select item 625744	GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	BAG5, MIR380 +98 more	Copy number gain	not provided	GPathogenic
Select item 564134	GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3	ADSS1, AHNAK2 +53 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 443644	GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1	ADSS1, AHNAK2 +96 more	Copy number loss	See cases	GPathogenic

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