6897[HGNC] - 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 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 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 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 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 2429110	NC_000014.9:g.102573453_103575949del	AMN, BAG5 +87 more	Deletion	Mitochondrial complex 4 deficiency, nuclear type 17	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	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 147741	GRCh38/hg38 14q32.32-32.33(chr14:103003736-103557569)x1	TNFAIP2, TRMT61A +50 more	Copy number loss	See cases	GUncertain significance
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 155689	GRCh38/hg38 14q32.32-32.33(chr14:103332197-104435594)x3	ASPG, ATP5MJ +72 more	Copy number gain	See cases	GUncertain significance
Select item 3293338	NM_001128918.3(MARK3):c.26C>T (p.Thr9Met)	MARK3 (T9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123671	NM_001128918.3(MARK3):c.43A>G (p.Thr15Ala)	MARK3 (T15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407783	NM_001128918.3(MARK3):c.113G>A (p.Arg38Gln)	MARK3 (R38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049994	NM_001128918.3(MARK3):c.125C>T (p.Ser42Phe)	MARK3 (S42F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3123664	NM_001128918.3(MARK3):c.146A>C (p.Glu49Ala)	MARK3 (E49A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040090	NM_001128918.3(MARK3):c.150A>G (p.Gln50=)	MARK3	Single nucleotide variant (synonymous variant +1 more)	MARK3-related disorder	GLikely benign
Select item 3123665	NM_001128918.3(MARK3):c.151C>T (p.Pro51Ser)	MARK3 (P51S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519606	NM_001128918.3(MARK3):c.296A>G (p.Lys99Arg)	MARK3 (K35R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042616	NM_001128918.3(MARK3):c.412+4A>T	MARK3	Single nucleotide variant (intron variant)	MARK3-related disorder	GLikely benign
Select item 1321158	NM_001128918.3(MARK3):c.413-4A>G	MARK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3293340	NM_001128918.3(MARK3):c.623A>G (p.Lys208Arg)	MARK3 (K190R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123672	NM_001128918.3(MARK3):c.785G>A (p.Arg262Lys)	MARK3 (R183K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123673	NM_001128918.3(MARK3):c.886G>A (p.Gly296Ser)	MARK3 (G278S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041077	NM_001128918.3(MARK3):c.886G>C (p.Gly296Arg)	MARK3 (G217R +3 more)	Single nucleotide variant (missense variant)	MARK3-related disorder	GLikely benign
Select item 3123674	NM_001128918.3(MARK3):c.914G>A (p.Arg305Lys)	MARK3 (R287K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123675	NM_001128918.3(MARK3):c.968A>G (p.Glu323Gly)	MARK3 (E323G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123663	NM_001128918.3(MARK3):c.1003A>G (p.Met335Val)	MARK3 (M256V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381035	NM_001128918.3(MARK3):c.1117G>T (p.Ala373Ser)	MARK3 (A355S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366717	NM_001128918.3(MARK3):c.1142A>G (p.Asn381Ser)	MARK3 (N317S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371365	NM_001128918.3(MARK3):c.1168A>C (p.Ser390Arg)	MARK3 (S326R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293339	NM_001128918.3(MARK3):c.1214T>C (p.Val405Ala)	MARK3 (V389A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033292	NM_001128918.3(MARK3):c.1293G>A (p.Ala431=)	MARK3	Single nucleotide variant (synonymous variant)	MARK3-related disorder	GBenign
Select item 2599613	NM_001128918.3(MARK3):c.1297C>G (p.Pro433Ala)	MARK3 (P369A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340882	NM_001128918.3(MARK3):c.1298C>T (p.Pro433Leu)	MARK3 (P369L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055758	NM_001128918.3(MARK3):c.1314C>A (p.Thr438=)	MARK3	Single nucleotide variant (synonymous variant)	MARK3-related disorder	GBenign
Select item 3056411	NM_001128918.3(MARK3):c.1327A>G (p.Ser443Gly)	MARK3 (S364G +4 more)	Single nucleotide variant (missense variant)	MARK3-related disorder	GBenign
Select item 3293336	NM_001128918.3(MARK3):c.1381G>A (p.Gly461Arg)	MARK3 (G443R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606616	NM_001128918.3(MARK3):c.1385G>A (p.Gly462Glu)	MARK3 (G462E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044255	NM_001128918.3(MARK3):c.1389G>A (p.Lys463=)	MARK3	Single nucleotide variant (synonymous variant)	MARK3-related disorder	GBenign
Select item 3293337	NM_001128918.3(MARK3):c.1490C>T (p.Thr497Ile)	MARK3 (T433I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040703	NM_001128918.3(MARK3):c.1586+4G>C	MARK3	Single nucleotide variant (intron variant)	MARK3-related disorder	GLikely benign
Select item 3123666	NM_001128918.3(MARK3):c.1636A>G (p.Ser546Gly)	MARK3 (S467G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407188	NM_001128918.3(MARK3):c.1661G>A (p.Arg554His)	MARK3 (R554H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123667	NM_001128918.3(MARK3):c.1699G>C (p.Gly567Arg)	MARK3 (G549R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382418	NM_001128918.3(MARK3):c.1708C>T (p.Arg570Trp)	MARK3 (R491W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599409	NM_001128918.3(MARK3):c.1708C>G (p.Arg570Gly)	MARK3 (R570G +2 more)	Single nucleotide variant (missense variant)	Visual impairment and progressive phthisis bulbi	GPathogenic
Select item 2310449	NM_001128918.3(MARK3):c.1715G>A (p.Arg572Gln)	MARK3 (R556Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043460	NM_001128918.3(MARK3):c.1875T>C (p.Leu625=)	MARK3	Single nucleotide variant (synonymous variant +1 more)	MARK3-related disorder	GLikely benign
Select item 3048273	NM_001128918.3(MARK3):c.1896C>T (p.Asn632=)	MARK3	Single nucleotide variant (synonymous variant +1 more)	MARK3-related disorder	GLikely benign
Select item 2510434	NM_001128918.3(MARK3):c.1901G>C (p.Arg634Thr)	MARK3 (R607T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1343520	NM_001128918.3(MARK3):c.1917-11A>G	MARK3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2213149	NM_001128918.3(MARK3):c.1922A>G (p.Asn641Ser)	MARK3 (N617S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329269	NM_001128918.3(MARK3):c.2029C>T (p.Arg677Trp)	MARK3 (R598W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364334	NM_001128918.3(MARK3):c.2035A>G (p.Ile679Val)	MARK3 (I639V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248802	NM_001128918.3(MARK3):c.2037C>G (p.Ile679Met)	MARK3 (I600M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320260	NM_001128918.3(MARK3):c.2065G>T (p.Asp689Tyr)	MARK3 (D595Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293335	NM_001128918.3(MARK3):c.2084G>A (p.Arg695His)	MARK3 (R601H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123668	NM_001128918.3(MARK3):c.2097C>G (p.Phe699Leu)	MARK3 (F620L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123669	NM_001128918.3(MARK3):c.2199A>G (p.Ile733Met)	MARK3 (I654M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057300	NM_001128918.3(MARK3):c.2201C>T (p.Ser734Leu)	MARK3 (S640L +6 more)	Single nucleotide variant (missense variant)	MARK3-related disorder	GLikely benign
Select item 3123670	NM_001128918.3(MARK3):c.2206A>G (p.Thr736Ala)	MARK3 (T712A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267219	NM_001128918.3(MARK3):c.2216C>T (p.Ala739Val)	MARK3 (A730V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244027	NC_000014.8:g.(?_102873655)_(105861009_?)del	ADSS1, AHNAK2 +40 more	Deletion	Herpes simplex encephalitis, susceptibility to, 3	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 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 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 2424156	NC_000014.8:g.(?_102228231)_(105861009_?)dup	ADSS1, AHNAK2 +47 more	Duplication	Charcot-Marie-Tooth disease axonal type 2O +1 more	GUncertain significance
Select item 2424155	NC_000014.8:g.(?_102442029)_(105861009_?)del	ADSS1, AHNAK2 +46 more	Deletion	Charcot-Marie-Tooth disease axonal type 2O	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 1681847	NC_000014.8:g.(?_103336539)_(105861009_?)dup	ADSS1, AHNAK2 +37 more	Duplication	not provided	GUncertain significance
Select item 1526437	GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437)	PACS2, PLD4 +67 more	Copy number loss	not specified	GPathogenic
Select item 1410807	NC_000014.8:g.(?_102229222)_(105861009_?)dup	KIF26A, KLC1 +47 more	Duplication	not provided	GUncertain significance
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 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 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

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