ClinVar for Gene (Select 4126) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246728	NC_000004.11:g.(?_101947022)_(104640852_?)del	BANK1, BDH2 +10 more	Deletion	not provided	GPathogenic
Select item 3246689	NC_000004.11:g.(?_103590100)_(103611948_?)del	MANBA	Deletion	Beta-D-mannosidosis	GPathogenic
Select item 3246688	NC_000004.11:g.(?_103610711)_(103645144_?)del	MANBA	Deletion	Beta-D-mannosidosis	GPathogenic
Select item 3235164	NM_005908.4(MANBA):c.2013dup (p.Glu672Ter)	MANBA (E672*)	Duplication (nonsense)	Beta-D-mannosidosis	GLikely pathogenic
Select item 3233367	NM_005908.4(MANBA):c.651C>G (p.Tyr217Ter)	MANBA (Y217*)	Single nucleotide variant (nonsense)	Beta-D-mannosidosis	GPathogenic
Select item 3122578	NM_005908.4(MANBA):c.953C>T (p.Ser318Leu)	MANBA (S318L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122577	NM_005908.4(MANBA):c.2150C>T (p.Thr717Ile)	MANBA (T717I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122576	NM_005908.4(MANBA):c.1154A>G (p.Asn385Ser)	MANBA (N385S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062772	GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1	ADH1A, ADH1B +34 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3051936	NM_005908.4(MANBA):c.674-5T>G	MANBA	Single nucleotide variant (intron variant)	MANBA-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	ARHGEF38, ARL9 +537 more	Copy number gain	not provided	GPathogenic
Select item 3023743	NM_005908.4(MANBA):c.120G>A (p.Leu40=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 3018511	NM_005908.4(MANBA):c.1869+8G>A	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 3017997	NM_005908.4(MANBA):c.781C>T (p.Gln261Ter)	MANBA (Q261*)	Single nucleotide variant (nonsense)	Beta-D-mannosidosis	GPathogenic
Select item 3017895	NM_005908.4(MANBA):c.549+8T>C	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 3016930	NM_005908.4(MANBA):c.15G>C (p.Leu5=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 3015265	NM_005908.4(MANBA):c.850-5A>T	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 3014812	NM_005908.4(MANBA):c.2158-6C>T	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 3014623	NM_005908.4(MANBA):c.1926C>T (p.Ser642=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 3013549	NM_005908.4(MANBA):c.2265T>C (p.Ser755=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 3013175	NM_005908.4(MANBA):c.1605C>T (p.Asp535=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 3011157	NM_005908.4(MANBA):c.1112+17C>A	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 3010765	NM_005908.4(MANBA):c.1149T>C (p.Asn383=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 3010232	NM_005908.4(MANBA):c.2157+12G>A	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 3009388	NM_005908.4(MANBA):c.273-10T>C	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 3009048	NM_005908.4(MANBA):c.2415+11G>A	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 3007720	NM_005908.4(MANBA):c.961-2A>C	MANBA	Single nucleotide variant (splice acceptor variant)	Beta-D-mannosidosis	GLikely pathogenic
Select item 3006511	NM_005908.4(MANBA):c.784C>T (p.Gln262Ter)	MANBA (Q262*)	Single nucleotide variant (nonsense)	Beta-D-mannosidosis	GPathogenic
Select item 3006450	NM_005908.4(MANBA):c.357A>G (p.Thr119=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 3005666	NM_005908.4(MANBA):c.285A>G (p.Lys95=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 3004033	NM_005908.4(MANBA):c.1870-16T>C	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 3002938	NM_005908.4(MANBA):c.273-7T>A	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 3002280	NM_005908.4(MANBA):c.748C>T (p.Gln250Ter)	MANBA (Q250*)	Single nucleotide variant (nonsense)	Beta-D-mannosidosis	GPathogenic
Select item 3000958	NM_005908.4(MANBA):c.2298G>A (p.Arg766=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2999618	NM_005908.4(MANBA):c.2334C>T (p.Asp778=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2998298	NM_005908.4(MANBA):c.1443T>C (p.Tyr481=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2997157	NM_005908.4(MANBA):c.2070A>G (p.Pro690=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2996190	NM_005908.4(MANBA):c.1581T>A (p.Tyr527Ter)	MANBA (Y527*)	Single nucleotide variant (nonsense)	Beta-D-mannosidosis	GPathogenic
Select item 2996181	NM_005908.4(MANBA):c.2079A>G (p.Pro693=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2993883	NM_005908.4(MANBA):c.1311C>T (p.Ala437=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2991237	NM_005908.4(MANBA):c.360C>T (p.Asp120=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2990908	NM_005908.4(MANBA):c.2167C>T (p.His723Tyr)	MANBA (H723Y)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis	GUncertain significance
Select item 2990059	NM_005908.4(MANBA):c.2103G>T (p.Thr701=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2989108	NM_005908.4(MANBA):c.549+18A>G	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2988567	NM_005908.4(MANBA):c.1047C>T (p.Pro349=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2983796	NM_005908.4(MANBA):c.462G>A (p.Gln154=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2983657	NM_005908.4(MANBA):c.1164G>C (p.Arg388=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2982906	NM_005908.4(MANBA):c.1575C>T (p.Ser525=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2982280	NM_005908.4(MANBA):c.1230+9T>A	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2982005	NM_005908.4(MANBA):c.1917T>C (p.Arg639=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2981091	NM_005908.4(MANBA):c.2157+19T>A	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2978423	NM_005908.4(MANBA):c.2613T>C (p.His871=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2971677	NM_005908.4(MANBA):c.2310G>A (p.Val770=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2971128	NM_005908.4(MANBA):c.272+17G>A	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2969659	NM_005908.4(MANBA):c.2316C>G (p.Ser772=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2967920	NM_005908.4(MANBA):c.2472C>G (p.Val824=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2965753	NM_005908.4(MANBA):c.379-14T>C	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2964727	NM_005908.4(MANBA):c.1413C>T (p.Phe471=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2963901	NM_005908.4(MANBA):c.510T>A (p.Leu170=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2961775	NM_005908.4(MANBA):c.1230+15G>A	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2959250	NM_005908.4(MANBA):c.169C>T (p.Leu57=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2954927	NM_005908.4(MANBA):c.674-2A>G	MANBA	Single nucleotide variant (splice acceptor variant)	Beta-D-mannosidosis	GLikely pathogenic
Select item 2919671	NM_005908.4(MANBA):c.1383G>A (p.Ala461=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2919113	NM_005908.4(MANBA):c.309G>A (p.Val103=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2917794	NM_005908.4(MANBA):c.1257T>C (p.Cys419=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2916452	NM_005908.4(MANBA):c.320C>A (p.Ser107Ter)	MANBA (S107*)	Single nucleotide variant (nonsense)	Beta-D-mannosidosis	GPathogenic
Select item 2916296	NM_005908.4(MANBA):c.2154C>G (p.Leu718=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2913532	NM_005908.4(MANBA):c.774G>A (p.Leu258=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2913224	NM_005908.4(MANBA):c.441G>A (p.Ala147=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2912674	NM_005908.4(MANBA):c.1878G>A (p.Gln626=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2912321	NM_005908.4(MANBA):c.379-16G>T	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2911924	NM_005908.4(MANBA):c.102G>C (p.Gly34=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2911630	NM_005908.4(MANBA):c.759A>C (p.Val253=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2910967	NM_005908.4(MANBA):c.2145G>A (p.Ser715=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2910771	NM_005908.4(MANBA):c.1235G>A (p.Trp412Ter)	MANBA (W412*)	Single nucleotide variant (nonsense)	Beta-D-mannosidosis	GPathogenic
Select item 2910700	NM_005908.4(MANBA):c.1872G>A (p.Val624=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2909267	NM_005908.4(MANBA):c.2511G>A (p.Gly837=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2909050	NM_005908.4(MANBA):c.2253G>A (p.Glu751=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2907516	NM_005908.4(MANBA):c.210C>T (p.Tyr70=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2905394	NM_005908.4(MANBA):c.2190C>T (p.Pro730=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2902479	NM_005908.4(MANBA):c.1704+1G>T	MANBA	Single nucleotide variant (splice donor variant)	Beta-D-mannosidosis	GLikely pathogenic
Select item 2901957	NM_005908.4(MANBA):c.177+20C>T	LOC129992886, MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2901137	NM_005908.4(MANBA):c.1312del (p.Tyr438fs)	MANBA (Y438fs)	Deletion (frameshift variant)	Beta-D-mannosidosis	GPathogenic
Select item 2901065	NM_005908.4(MANBA):c.178-12T>C	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2900140	NM_005908.4(MANBA):c.1422_1477dup (p.Val493delinsGlyGlnSerThrSerArgThrMetTer)	MANBA	Duplication (nonsense)	Beta-D-mannosidosis	GPathogenic
Select item 2899314	NM_005908.4(MANBA):c.483C>T (p.Tyr161=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2898561	NM_005908.4(MANBA):c.2193G>A (p.Val731=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2897636	NM_005908.4(MANBA):c.1705-17T>C	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2896556	NM_005908.4(MANBA):c.1648C>T (p.Arg550Ter)	MANBA (R550*)	Single nucleotide variant (nonsense)	Beta-D-mannosidosis	GPathogenic
Select item 2893633	NM_005908.4(MANBA):c.1704+11G>A	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2893244	NM_005908.4(MANBA):c.1705-2A>G	MANBA	Single nucleotide variant (splice acceptor variant)	Beta-D-mannosidosis	GLikely pathogenic
Select item 2891646	NM_005908.4(MANBA):c.2158-5C>T	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2889391	NM_005908.4(MANBA):c.378+17A>G	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2888527	NM_005908.4(MANBA):c.1733del (p.Asn578fs)	MANBA (N578fs)	Deletion (frameshift variant)	Beta-D-mannosidosis	GPathogenic
Select item 2887842	NM_005908.4(MANBA):c.2352G>T (p.Pro784=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2887184	NM_005908.4(MANBA):c.564T>C (p.Phe188=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign
Select item 2883364	NM_005908.4(MANBA):c.2416-4T>C	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis	GLikely benign
Select item 2883148	NM_005908.4(MANBA):c.1143T>C (p.Asp381=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis	GLikely benign

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