ClinVar for MedGen (Select 7467) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068547	NM_000528.4(MAN2B1):c.1645-195C>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GBenign
Select item 3068373	NM_000528.4(MAN2B1):c.1349G>T (p.Ser450Ile)	MAN2B1, LOC129391064 (S449I +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 3024226	NM_144976.4(ZNF564):c.4-9193_4-8037del	MAN2B1, ZNF564	Deletion (intron variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 3023634	NM_000528.4(MAN2B1):c.1869G>A (p.Leu623=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3023497	NM_000528.4(MAN2B1):c.1027-6C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3022714	NM_000528.4(MAN2B1):c.2820+7A>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3022654	NM_000528.4(MAN2B1):c.2356-14C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3022299	NM_000528.4(MAN2B1):c.1644+13_1644+15del	MAN2B1	Microsatellite (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3018952	NM_000528.4(MAN2B1):c.1584G>C (p.Leu528=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3016460	NM_000528.4(MAN2B1):c.2267+13_2267+14del	MAN2B1	Deletion (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3016418	NM_000528.4(MAN2B1):c.1527+13G>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3016381	NM_000528.4(MAN2B1):c.259G>A (p.Gly87Arg)	MAN2B1 (G87R)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 3016379	NM_000528.4(MAN2B1):c.1027-18C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3016282	NM_000528.4(MAN2B1):c.2356-15C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3014776	NM_000528.4(MAN2B1):c.2376T>G (p.Thr792=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3014463	NM_000528.4(MAN2B1):c.1419+20G>A	LOC129391064, MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3010657	NM_000528.4(MAN2B1):c.2821-13C>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3009191	NM_000528.4(MAN2B1):c.1528-14C>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3008709	NM_000528.4(MAN2B1):c.2820+7A>C	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3008645	NM_000528.4(MAN2B1):c.2047-15C>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3008269	NM_000528.4(MAN2B1):c.1830+8C>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3007594	NM_000528.4(MAN2B1):c.909+12G>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3005150	NM_000528.4(MAN2B1):c.2268-15C>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3004194	NM_000528.4(MAN2B1):c.46C>T (p.Leu16=)	LOC130063650, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3003348	NM_000528.4(MAN2B1):c.910-14C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3001634	NM_000528.4(MAN2B1):c.1109+13A>C	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3001406	NM_000528.4(MAN2B1):c.2970C>A (p.Ile990=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3001097	NM_000528.4(MAN2B1):c.1645-11C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2999885	NM_000528.4(MAN2B1):c.262+19C>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2998595	NM_000528.4(MAN2B1):c.1645-12C>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2998271	NM_000528.4(MAN2B1):c.1420-13C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2997867	NM_000528.4(MAN2B1):c.1230+14G>C	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2996988	NM_000528.4(MAN2B1):c.1866G>A (p.Leu622=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2996910	NM_000528.4(MAN2B1):c.2704C>T (p.Leu902=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2996312	NM_000528.4(MAN2B1):c.2664+18A>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2996184	NM_000528.4(MAN2B1):c.910-13C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2996167	NM_000528.4(MAN2B1):c.2267+8del	MAN2B1	Deletion (intron variant)	Deficiency of alpha-mannosidase	GBenign
Select item 2995667	NM_000528.4(MAN2B1):c.2736G>C (p.Met912Ile)	LOC130063648, MAN2B1 (M912I +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2991639	NM_000528.4(MAN2B1):c.2361A>G (p.Gly787=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2989369	NM_000528.4(MAN2B1):c.1386G>A (p.Ala462=)	LOC129391064, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2988523	NM_000528.4(MAN2B1):c.1528-19C>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2988327	NM_000528.4(MAN2B1):c.1929-19T>C	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2984094	NM_000528.4(MAN2B1):c.436+20G>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2980969	NM_000528.4(MAN2B1):c.1110-5T>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2978587	NM_000528.4(MAN2B1):c.1830+20C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2976603	NM_000528.4(MAN2B1):c.366C>T (p.Ala122=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2976240	NM_000528.4(MAN2B1):c.1420-14G>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2975928	NM_000528.4(MAN2B1):c.2818A>C (p.Arg940=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2975213	NM_000528.4(MAN2B1):c.1309+11G>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2975011	NM_000528.4(MAN2B1):c.1231-13C>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2974734	NM_000528.4(MAN2B1):c.1027-19C>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2974188	NM_000528.4(MAN2B1):c.1231-17T>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2971940	NM_000528.4(MAN2B1):c.2665-19C>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2971917	NM_000528.4(MAN2B1):c.1110-13C>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2970841	NM_000528.4(MAN2B1):c.2047-19C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2970136	NM_000528.4(MAN2B1):c.1644+16G>C	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2968932	NM_000528.4(MAN2B1):c.2730C>G (p.Pro910=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2967174	NM_000528.4(MAN2B1):c.2665-11C>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2966804	NM_000528.4(MAN2B1):c.1263G>A (p.Leu421=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2962193	NM_000528.4(MAN2B1):c.15G>A (p.Ala5=)	LOC130063650, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2960469	NM_000528.4(MAN2B1):c.1552C>T (p.Leu518=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2955765	NM_000528.4(MAN2B1):c.2267+11A>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2955594	NM_000528.4(MAN2B1):c.1419+16C>T	LOC129391064, MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2955510	NM_000528.4(MAN2B1):c.2058G>A (p.Val686=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2955089	NM_000528.4(MAN2B1):c.2355+15T>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2920102	NM_000528.4(MAN2B1):c.1788C>T (p.Ile596=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2919994	NM_000528.4(MAN2B1):c.160-17T>C	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2919368	NM_000528.4(MAN2B1):c.2923+19dup	MAN2B1	Duplication (intron variant)	Deficiency of alpha-mannosidase	GBenign
Select item 2919281	NM_000528.4(MAN2B1):c.630+5G>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2919225	NM_000528.4(MAN2B1):c.195G>T (p.Val65=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2918416	NM_000528.4(MAN2B1):c.159+12C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2918195	NM_000528.4(MAN2B1):c.333T>C (p.Asp111=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2917381	NM_000528.4(MAN2B1):c.2047-14C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2917183	NM_000528.4(MAN2B1):c.2820+8G>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2915354	NM_000528.4(MAN2B1):c.1928+17A>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2914935	NM_000528.4(MAN2B1):c.1831-14C>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2914698	NM_000528.4(MAN2B1):c.910-16C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2914150	NM_000528.4(MAN2B1):c.763+12G>C	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2912901	NM_000528.4(MAN2B1):c.2821-20G>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2911646	NM_000528.4(MAN2B1):c.2487A>C (p.Leu829=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2911311	NM_000528.4(MAN2B1):c.543C>T (p.Asp181=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2911066	NM_000528.4(MAN2B1):c.2047-12G>C	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2911011	NM_000528.4(MAN2B1):c.2437-12C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2910568	NM_000528.4(MAN2B1):c.1806C>G (p.Ser602=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2910452	NM_000528.4(MAN2B1):c.263-2A>C	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 2909933	NM_000528.4(MAN2B1):c.1623T>C (p.Asn541=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2908255	NM_000528.4(MAN2B1):c.1230+13C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2906720	NM_000528.4(MAN2B1):c.159+10G>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2905491	NM_000528.4(MAN2B1):c.1928+14A>C	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2904943	NM_000528.4(MAN2B1):c.2047-14C>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2903737	NM_000528.4(MAN2B1):c.1027-14G>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2902613	NM_000528.4(MAN2B1):c.2010G>A (p.Leu670=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2901766	NM_000528.4(MAN2B1):c.1420-19C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2901309	NM_000528.4(MAN2B1):c.1027-17G>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2900895	NM_000528.4(MAN2B1):c.1359C>T (p.Ser453=)	LOC129391064, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2899437	NM_000528.4(MAN2B1):c.2821-7C>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2898566	NM_000528.4(MAN2B1):c.750G>A (p.Ala250=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2896536	NM_000528.4(MAN2B1):c.2665-8T>C	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2896007	NM_000528.4(MAN2B1):c.262+17G>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2895472	NM_000528.4(MAN2B1):c.2821-16A>C	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign

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