MOK[gene] - ClinVar

Search results

Items: 97

	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 150931	GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1	BEGAIN, CINP +215 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 2517051	NM_014226.3(MOK):c.1250G>A (p.Gly417Asp)	MOK (G183D +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195563	NM_014226.3(MOK):c.1249G>A (p.Gly417Ser)	MOK (G235S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195537	NM_014226.3(MOK):c.1244G>A (p.Arg415Gln)	MOK (R309Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383331	NM_014226.3(MOK):c.1238T>C (p.Ile413Thr)	MOK (I231T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231904	NM_014226.3(MOK):c.1237A>G (p.Ile413Val)	MOK (I413V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195411	NM_014226.3(MOK):c.1217A>G (p.Gln406Arg)	MOK (Q300R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195376	NM_014226.3(MOK):c.1205A>G (p.Lys402Arg)	MOK (K338R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265871	NM_014226.3(MOK):c.1154C>A (p.Pro385His)	MOK (P203H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614070	NM_014226.3(MOK):c.1117G>A (p.Gly373Arg)	MOK (G139R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195254	NM_014226.3(MOK):c.1085C>T (p.Ser362Phe)	MOK (S128F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195226	NM_014226.3(MOK):c.1073T>G (p.Val358Gly)	MOK (V176G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295539	NM_014226.3(MOK):c.1067G>C (p.Gly356Ala)	MOK (G122A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195207	NM_014226.3(MOK):c.1064C>T (p.Ser355Leu)	MOK (S250L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322753	NM_014226.3(MOK):c.1055T>C (p.Leu352Pro)	MOK (L246P +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195144	NM_014226.3(MOK):c.1051A>C (p.Lys351Gln)	MOK (K246Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534130	NM_014226.3(MOK):c.1009C>G (p.Arg337Gly)	MOK (R155G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233413	NM_014226.3(MOK):c.934G>A (p.Glu312Lys)	MOK (E207K +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196213	NM_014226.3(MOK):c.932C>T (p.Pro311Leu)	MOK (P205L +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3295537	NM_014226.3(MOK):c.931C>T (p.Pro311Ser)	MOK (P129S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540374	NM_014226.3(MOK):c.900A>T (p.Arg300Ser)	MOK (R195S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213550	NM_014226.3(MOK):c.857A>G (p.Gln286Arg)	MOK (Q256R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205225	NM_014226.3(MOK):c.842A>G (p.Gln281Arg)	MOK (Q175R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476794	NM_014226.3(MOK):c.823G>A (p.Ala275Thr)	MOK (A169T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3196065	NM_014226.3(MOK):c.779C>T (p.Ser260Phe)	MOK (S154F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393949	NM_014226.3(MOK):c.766C>A (p.Pro256Thr)	MOK (P151T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354510	NM_014226.3(MOK):c.722T>G (p.Phe241Cys)	MOK (F135C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219823	NM_014226.3(MOK):c.680C>G (p.Thr227Ser)	MOK (T122S +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195974	NM_014226.3(MOK):c.664G>A (p.Ala222Thr)	MOK (A192T +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 587554	NM_014226.3(MOK):c.630_631dup (p.Ile211fs)	MOK (I105fs +7 more)	Duplication (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 2376241	NM_014226.3(MOK):c.617A>G (p.Asn206Ser)	MOK (N101S +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195932	NM_014226.3(MOK):c.598C>T (p.Pro200Ser)	MOK (P169S +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 3195902	NM_014226.3(MOK):c.586G>T (p.Ala196Ser)	MOK (A132S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 746396	NM_014226.3(MOK):c.486C>T (p.Ile162=)	MOK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2516166	NM_014226.3(MOK):c.449G>A (p.Arg150Gln)	MOK (R119Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220348	NM_014226.3(MOK):c.437T>C (p.Phe146Ser)	MOK (F145S +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472391	NM_014226.3(MOK):c.433G>A (p.Asp145Asn)	MOK (D115N +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 727122	NM_014226.3(MOK):c.411G>C (p.Lys137Asn)	MOK (K137N +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2607935	NM_014226.3(MOK):c.400A>G (p.Ile134Val)	MOK (I134V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285883	NM_014226.3(MOK):c.326T>C (p.Met109Thr)	MOK (M109T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2277964	NM_014226.3(MOK):c.325A>C (p.Met109Leu)	MOK (M109L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489015	NM_014226.3(MOK):c.314T>G (p.Ile105Ser)	MOK (I105S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2548194	NM_014226.3(MOK):c.202G>A (p.Glu68Lys)	MOK (E4K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283493	NM_014226.3(MOK):c.184A>G (p.Asn62Asp)	MOK (N62D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3295536	NM_014226.3(MOK):c.178C>T (p.His60Tyr)	MOK (H60Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195445	NM_014226.3(MOK):c.121A>G (p.Ser41Gly)	MOK (S41G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195306	NM_014226.3(MOK):c.113G>C (p.Arg38Pro)	MOK (R38P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2511765	NM_014226.3(MOK):c.41C>T (p.Thr14Met)	MOK (T14M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3244018	NC_000014.8:g.(?_102431029)_(103397017_?)dup	AMN, ANKRD9 +9 more	Duplication	Charcot-Marie-Tooth disease axonal type 2O	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 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	GUncertain significance
Select item 3024584	GRCh37/hg19 14q32.31(chr14:102749815-103192843)x3	ANKRD9, CINP +4 more	Copy number gain	not provided	GUncertain significance
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 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 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	ZFYVE21, ZNF839 +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 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
Select item 687315	GRCh37/hg19 14q32.31-32.32(chr14:102709744-103453834)x4	AMN, ANKRD9 +7 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
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441703	GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1	ADSS1, AHNAK2 +62 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 97