MAN2B2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 2357772	NM_015274.3(MAN2B2):c.22C>T (p.Pro8Ser)	MAN2B2 (P8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510855	NM_015274.3(MAN2B2):c.37C>T (p.Leu13Phe)	MAN2B2 (L13F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122542	NM_015274.3(MAN2B2):c.46C>A (p.Leu16Met)	MAN2B2 (L16M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336220	NM_015274.3(MAN2B2):c.83G>A (p.Arg28Gln)	MAN2B2 (R28Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224171	NM_015274.3(MAN2B2):c.106C>T (p.His36Tyr)	MAN2B2 (H36Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1065157	NM_015274.3(MAN2B2):c.112G>A (p.Asp38Asn)	MAN2B2 (D38N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3122523	NM_015274.3(MAN2B2):c.116T>G (p.Val39Gly)	MAN2B2 (V39G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122525	NM_015274.3(MAN2B2):c.124G>A (p.Val42Ile)	MAN2B2 (V42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283072	NM_015274.3(MAN2B2):c.134T>C (p.Val45Ala)	MAN2B2 (V45A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301720	NM_015274.3(MAN2B2):c.138+1G>A	MAN2B2	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 2382727	NM_015274.3(MAN2B2):c.149G>A (p.Arg50Gln)	MAN2B2 (R50Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3122530	NM_015274.3(MAN2B2):c.157G>A (p.Ala53Thr)	MAN2B2 (A53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122531	NM_015274.3(MAN2B2):c.160G>A (p.Ala54Thr)	MAN2B2 (A54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292847	NM_015274.3(MAN2B2):c.259G>A (p.Val87Ile)	MAN2B2 (V87I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336347	NM_015274.3(MAN2B2):c.277A>C (p.Lys93Gln)	MAN2B2 (K93Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292846	NM_015274.3(MAN2B2):c.280T>C (p.Tyr94His)	MAN2B2 (Y94H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2688204	NM_015274.3(MAN2B2):c.285+36A>G	MAN2B2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2346939	NM_015274.3(MAN2B2):c.319T>C (p.Phe107Leu)	MAN2B2 (F107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288989	NM_015274.3(MAN2B2):c.325A>G (p.Ile109Val)	MAN2B2 (I109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688059	NM_015274.3(MAN2B2):c.391+58A>G	MAN2B2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2352458	NM_015274.3(MAN2B2):c.400G>A (p.Gly134Arg)	MAN2B2 (G134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676300	NM_015274.3(MAN2B2):c.440_442del (p.Ser147del)	MAN2B2 (S147del)	Deletion (inframe_deletion)	Congenital disorder of glycosylation	GUncertain significance
Select item 2308535	NM_015274.3(MAN2B2):c.491C>A (p.Ala164Glu)	MAN2B2 (A164E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122543	NM_015274.3(MAN2B2):c.506A>G (p.Asn169Ser)	MAN2B2 (N169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122544	NM_015274.3(MAN2B2):c.521C>T (p.Ser174Phe)	MAN2B2 (S174F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463461	NM_015274.3(MAN2B2):c.551T>C (p.Met184Thr)	MAN2B2 (M184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122545	NM_015274.3(MAN2B2):c.560C>T (p.Ala187Val)	MAN2B2 (A187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122546	NM_015274.3(MAN2B2):c.623C>T (p.Thr208Met)	MAN2B2 (T208M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404070	NM_015274.3(MAN2B2):c.632T>C (p.Met211Thr)	MAN2B2 (M211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688273	NM_015274.3(MAN2B2):c.681-73A>G	MAN2B2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2282414	NM_015274.3(MAN2B2):c.704T>C (p.Val235Ala)	MAN2B2 (V235A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688006	NM_015274.3(MAN2B2):c.728A>C (p.Gln243Pro)	MAN2B2 (Q243P)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2380314	NM_015274.3(MAN2B2):c.752G>C (p.Ser251Thr)	MAN2B2 (S251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384004	NM_015274.3(MAN2B2):c.808G>A (p.Val270Met)	MAN2B2 (V270M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122547	NM_015274.3(MAN2B2):c.832C>T (p.Arg278Trp)	MAN2B2 (R278W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654623	NM_015274.3(MAN2B2):c.840G>A (p.Pro280=)	MAN2B2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2571200	NM_015274.3(MAN2B2):c.887C>T (p.Ser296Leu)	MAN2B2 (S296L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3122548	NM_015274.3(MAN2B2):c.905T>A (p.Met302Lys)	MAN2B2 (M302K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356664	NM_015274.3(MAN2B2):c.943G>A (p.Glu315Lys)	MAN2B2 (E315K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2688011	NM_015274.3(MAN2B2):c.958G>A (p.Val320Met)	MAN2B2 (V269M +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3051657	NM_015274.3(MAN2B2):c.984del (p.Phe329fs)	MAN2B2 (F278fs +1 more)	Deletion (frameshift variant)	MAN2B2-related disorder	GLikely benign
Select item 2491463	NM_015274.3(MAN2B2):c.988C>T (p.Arg330Cys)	MAN2B2 (R279C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208147	NM_015274.3(MAN2B2):c.989G>A (p.Arg330His)	MAN2B2 (R279H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339955	NM_015274.3(MAN2B2):c.1000G>A (p.Ala334Thr)	MAN2B2 (A334T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266247	NM_015274.3(MAN2B2):c.1018C>T (p.Arg340Cys)	MAN2B2 (R289C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688038	NM_015274.3(MAN2B2):c.1057+17G>A	MAN2B2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688042	NM_015274.3(MAN2B2):c.1057+56C>T	MAN2B2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688043	NM_015274.3(MAN2B2):c.1057+93C>T	MAN2B2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2310270	NM_015274.3(MAN2B2):c.1060C>T (p.Pro354Ser)	MAN2B2 (P354S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469443	NM_015274.3(MAN2B2):c.1070C>T (p.Ala357Val)	MAN2B2 (A306V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619359	NM_015274.3(MAN2B2):c.1081T>G (p.Phe361Val)	MAN2B2 (F310V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369274	NM_015274.3(MAN2B2):c.1118G>A (p.Arg373Gln)	MAN2B2 (R373Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292848	NM_015274.3(MAN2B2):c.1121G>A (p.Arg374Gln)	MAN2B2 (R374Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455043	NM_015274.3(MAN2B2):c.1121G>T (p.Arg374Leu)	MAN2B2 (R374L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292841	NM_015274.3(MAN2B2):c.1129G>A (p.Ala377Thr)	MAN2B2 (A326T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122522	NM_015274.3(MAN2B2):c.1163G>T (p.Arg388Leu)	MAN2B2 (R337L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540703	NM_015274.3(MAN2B2):c.1163G>A (p.Arg388His)	MAN2B2 (R388H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489384	NM_015274.3(MAN2B2):c.1178C>A (p.Ala393Asp)	MAN2B2 (A342D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266391	NM_015274.3(MAN2B2):c.1181C>T (p.Pro394Leu)	MAN2B2 (P343L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122524	NM_015274.3(MAN2B2):c.1184G>A (p.Arg395His)	MAN2B2 (R344H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3251090	NM_015274.3(MAN2B2):c.1216C>A (p.Gln406Lys)	MAN2B2 (Q355K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2591967	NM_015274.3(MAN2B2):c.1231C>T (p.Arg411Cys)	MAN2B2 (R360C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307147	NM_015274.3(MAN2B2):c.1232G>A (p.Arg411His)	MAN2B2 (R411H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2537143	NM_015274.3(MAN2B2):c.1246G>A (p.Glu416Lys)	MAN2B2 (E365K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122526	NM_015274.3(MAN2B2):c.1255C>T (p.His419Tyr)	MAN2B2 (H368Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292844	NM_015274.3(MAN2B2):c.1267A>G (p.Ile423Val)	MAN2B2 (I372V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122527	NM_015274.3(MAN2B2):c.1282T>A (p.Ser428Thr)	MAN2B2 (S377T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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