ClinVar for Gene (Select 23324) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292854	NM_015274.3(MAN2B2):c.2159G>A (p.Ser720Asn)	MAN2B2 (S720N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292853	NM_015274.3(MAN2B2):c.1504G>A (p.Val502Ile)	MAN2B2 (V451I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292851	NM_015274.3(MAN2B2):c.1303T>C (p.Tyr435His)	MAN2B2 (Y384H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292850	NM_015274.3(MAN2B2):c.1575C>G (p.Asp525Glu)	MAN2B2 (D525E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292849	NM_015274.3(MAN2B2):c.1648G>A (p.Glu550Lys)	MAN2B2 (E550K +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 3292847	NM_015274.3(MAN2B2):c.259G>A (p.Val87Ile)	MAN2B2 (V87I)	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 3292845	NM_015274.3(MAN2B2):c.1714C>T (p.Arg572Cys)	MAN2B2 (R521C +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 3292842	NM_015274.3(MAN2B2):c.1502G>A (p.Arg501His)	MAN2B2 (R501H +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 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 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
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 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 3122546	NM_015274.3(MAN2B2):c.623C>T (p.Thr208Met)	MAN2B2 (T208M)	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 3122544	NM_015274.3(MAN2B2):c.521C>T (p.Ser174Phe)	MAN2B2 (S174F)	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 3122542	NM_015274.3(MAN2B2):c.46C>A (p.Leu16Met)	MAN2B2 (L16M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122541	NM_015274.3(MAN2B2):c.2989A>G (p.Lys997Glu)	MAN2B2 (K997E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122540	NM_015274.3(MAN2B2):c.2944T>C (p.Ser982Pro)	MAN2B2 (S931P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122539	NM_015274.3(MAN2B2):c.2770G>A (p.Gly924Ser)	MAN2B2 (G924S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122538	NM_015274.3(MAN2B2):c.2666C>G (p.Ser889Cys)	MAN2B2 (S889C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122537	NM_015274.3(MAN2B2):c.2657G>T (p.Arg886Leu)	MAN2B2 (R886L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122536	NM_015274.3(MAN2B2):c.2030C>T (p.Thr677Met)	MAN2B2 (T626M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122535	NM_015274.3(MAN2B2):c.1897G>A (p.Asp633Asn)	MAN2B2 (D582N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122534	NM_015274.3(MAN2B2):c.1772T>G (p.Leu591Arg)	MAN2B2 (L591R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122533	NM_015274.3(MAN2B2):c.1700G>A (p.Arg567His)	MAN2B2 (R516H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122532	NM_015274.3(MAN2B2):c.1613G>A (p.Arg538Gln)	MAN2B2 (R487Q +1 more)	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 3122530	NM_015274.3(MAN2B2):c.157G>A (p.Ala53Thr)	MAN2B2 (A53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122529	NM_015274.3(MAN2B2):c.1471G>A (p.Val491Ile)	MAN2B2 (V440I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122528	NM_015274.3(MAN2B2):c.1283C>T (p.Ser428Phe)	MAN2B2 (S377F +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
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 3122525	NM_015274.3(MAN2B2):c.124G>A (p.Val42Ile)	MAN2B2 (V42I)	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 3122523	NM_015274.3(MAN2B2):c.116T>G (p.Val39Gly)	MAN2B2 (V39G)	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 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
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 3050702	NM_015274.3(MAN2B2):c.2429C>T (p.Thr810Met)	MAN2B2 (T759M +1 more)	Single nucleotide variant (missense variant)	MAN2B2-related disorder	GLikely benign
Select item 3046271	NM_015274.3(MAN2B2):c.2104C>G (p.Gln702Glu)	MAN2B2 (Q651E +1 more)	Single nucleotide variant (missense variant)	MAN2B2-related disorder	GLikely benign
Select item 3025695	NM_015274.3(MAN2B2):c.2602G>A (p.Ala868Thr)	MAN2B2 (A817T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024978	NM_015274.3(MAN2B2):c.1339C>G (p.Arg447Gly)	MAN2B2 (R396G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2688273	NM_015274.3(MAN2B2):c.681-73A>G	MAN2B2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688204	NM_015274.3(MAN2B2):c.285+36A>G	MAN2B2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688176	NM_015274.3(MAN2B2):c.2259+36T>C	MAN2B2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688064	NM_015274.3(MAN2B2):c.*20G>T	MAN2B2	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 2688059	NM_015274.3(MAN2B2):c.391+58A>G	MAN2B2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688058	NM_015274.3(MAN2B2):c.2799G>A (p.Val933=)	MAN2B2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688053	NM_015274.3(MAN2B2):c.2760A>G (p.Leu920=)	MAN2B2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688049	NM_015274.3(MAN2B2):c.1406-95A>G	MAN2B2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688048	NM_015274.3(MAN2B2):c.2702-55A>G	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 2688042	NM_015274.3(MAN2B2):c.1057+56C>T	MAN2B2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688039	NM_015274.3(MAN2B2):c.2702-103A>G	MAN2B2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688038	NM_015274.3(MAN2B2):c.1057+17G>A	MAN2B2	Single nucleotide variant (intron variant)	not specified	GBenign
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 2688008	NM_015274.3(MAN2B2):c.1336A>G (p.Met446Val)	MAN2B2 (M395V +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2688006	NM_015274.3(MAN2B2):c.728A>C (p.Gln243Pro)	MAN2B2 (Q243P)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2687997	NM_015274.3(MAN2B2):c.1622A>G (p.Asn541Ser)	MAN2B2 (N490S +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2687996	NM_015274.3(MAN2B2):c.1539+33A>G	MAN2B2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2654629	NM_015274.3(MAN2B2):c.3029G>A (p.Ter1010=)	MAN2B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2654628	NM_015274.3(MAN2B2):c.2361G>A (p.Gly787=)	MAN2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654627	NM_015274.3(MAN2B2):c.1804A>G (p.Ile602Val)	MAN2B2 (I551V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2654626	NM_015274.3(MAN2B2):c.1755C>T (p.Asn585=)	MAN2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654625	NM_015274.3(MAN2B2):c.1665G>A (p.Pro555=)	MAN2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654624	NM_015274.3(MAN2B2):c.1458G>A (p.Thr486=)	MAN2B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2607932	NM_015274.3(MAN2B2):c.2246A>G (p.Asn749Ser)	MAN2B2 (N698S +1 more)	Single nucleotide variant (missense variant)	not specified	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 2589135	NM_015274.3(MAN2B2):c.2747G>A (p.Arg916Gln)	MAN2B2 (R865Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +132 more	Copy number loss	not provided	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 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
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 2550937	NM_015274.3(MAN2B2):c.2287T>G (p.Phe763Val)	MAN2B2 (F763V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542875	NM_015274.3(MAN2B2):c.2269C>T (p.Pro757Ser)	MAN2B2 (P706S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542787	NM_015274.3(MAN2B2):c.1570T>C (p.Tyr524His)	MAN2B2 (Y524H +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 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 2526974	NM_015274.3(MAN2B2):c.3006C>G (p.Phe1002Leu)	MAN2B2 (F1002L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523516	NM_015274.3(MAN2B2):c.3019C>A (p.Gln1007Lys)	MAN2B2 (Q956K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523224	NM_015274.3(MAN2B2):c.1568C>T (p.Ala523Val)	MAN2B2 (A523V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518619	NM_015274.3(MAN2B2):c.2924G>A (p.Arg975His)	MAN2B2 (R924H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2491462	NM_015274.3(MAN2B2):c.2439C>G (p.Asp813Glu)	MAN2B2 (D813E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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