6826[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 153423	GRCh38/hg38 19p13.2-13.13(chr19:12357905-12768046)x1	BEST2, DHPS +57 more	Copy number loss	See cases	GUncertain significance
Select item 3024226	NC_000019.10:g.12536733_12537889del	MAN2B1, ZNF564	Deletion (intron variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 328248	NM_000528.4(MAN2B1):c.*105C>G	MAN2B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 328249	NM_000528.4(MAN2B1):c.*100T>G	MAN2B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 888873	NM_000528.4(MAN2B1):c.*91C>T	MAN2B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 328250	NM_000528.4(MAN2B1):c.*42G>A	MAN2B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of alpha-mannosidase +1 more	GLikely benign
Select item 888874	NM_000528.4(MAN2B1):c.*41C>T	MAN2B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1084006	NM_000528.4(MAN2B1):c.3033T>C (p.Gly1011=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2841197	NM_000528.4(MAN2B1):c.3030T>C (p.Asp1010=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1450233	NM_000528.4(MAN2B1):c.3024G>A (p.Glu1008=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1400309	NM_000528.4(MAN2B1):c.3015A>G (p.Gln1005=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2838271	NM_000528.4(MAN2B1):c.3013C>T (p.Gln1005Ter)	MAN2B1 (Q1004* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2725705	NM_000528.4(MAN2B1):c.3009A>G (p.Ser1003=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 888875	NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 2183885	NM_000528.4(MAN2B1):c.3004G>A (p.Ala1002Thr)	MAN2B1 (A1002T +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GUncertain significance
Select item 2144410	NM_000528.4(MAN2B1):c.3002T>C (p.Leu1001Pro)	MAN2B1 (L1000P +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2813070	NM_000528.4(MAN2B1):c.3000C>T (p.Phe1000=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 208281	NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser)	MAN2B1 (F1000S +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1139769	NM_000528.4(MAN2B1):c.2994C>T (p.Arg998=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 729970	NM_000528.4(MAN2B1):c.2993G>A (p.Arg998His)	MAN2B1 (R997H +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GBenign
Select item 2146799	NM_000528.4(MAN2B1):c.2992C>T (p.Arg998Cys)	MAN2B1 (R997C +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 328251	NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 2837850	NM_000528.4(MAN2B1):c.2982C>T (p.Pro994=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2429160	NM_000528.4(MAN2B1):c.2977dup (p.Glu993fs)	MAN2B1 (E992fs +1 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 1947851	NM_000528.4(MAN2B1):c.2974C>T (p.Leu992=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 733193	NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase +1 more	GConflicting classifications of pathogenicity
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 2413176	NM_000528.4(MAN2B1):c.2970del (p.Thr991fs)	MAN2B1 (T990fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 558857	NM_000528.4(MAN2B1):c.2968A>G (p.Ile990Val)	MAN2B1 (I990V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 649913	NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser)	MAN2B1 (N989S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1661780	NM_000528.4(MAN2B1):c.2964C>G (p.Ala988=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1603836	NM_000528.4(MAN2B1):c.2961G>T (p.Pro987=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 761708	NM_000528.4(MAN2B1):c.2961G>A (p.Pro987=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1345893	NM_000528.4(MAN2B1):c.2960C>T (p.Pro987Leu)	MAN2B1 (P987L +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1122877	NM_000528.4(MAN2B1):c.2952G>A (p.Gln984=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1124006	NM_000528.4(MAN2B1):c.2946G>A (p.Pro982=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1422126	NM_000528.4(MAN2B1):c.2945C>T (p.Pro982Leu)	MAN2B1 (P981L +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GUncertain significance
Select item 2683479	NM_000528.4(MAN2B1):c.2936A>G (p.His979Arg)	MAN2B1 (H978R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785493	NM_000528.4(MAN2B1):c.2934C>T (p.Pro978=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1401214	NM_000528.4(MAN2B1):c.2932C>A (p.Pro978Thr)	MAN2B1 (P978T +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2162777	NM_000528.4(MAN2B1):c.2927C>G (p.Pro976Arg)	MAN2B1 (P975R +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 990079	NM_000528.4(MAN2B1):c.2927C>T (p.Pro976Leu)	MAN2B1 (P975L +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2861391	NM_000528.4(MAN2B1):c.2924-5_2924-3del	MAN2B1	Deletion (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2029565	NM_000528.4(MAN2B1):c.2924-4C>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1101751	NM_000528.4(MAN2B1):c.2924-4C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2121162	NM_000528.4(MAN2B1):c.2924-6C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2845085	NM_000528.4(MAN2B1):c.2924-9C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2747806	NM_000528.4(MAN2B1):c.2924-10A>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2772010	NM_000528.4(MAN2B1):c.2924-16C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2717050	NM_000528.4(MAN2B1):c.2924-19T>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1706812	NM_000528.4(MAN2B1):c.2924-150C>T	MAN2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236095	NM_000528.4(MAN2B1):c.2924-152G>A	MAN2B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2430691	NM_000528.4(MAN2B1):c.2923+50G>A	MAN2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919368	NM_000528.4(MAN2B1):c.2923+19dup	MAN2B1	Duplication (intron variant)	Deficiency of alpha-mannosidase	GBenign
Select item 2186146	NM_000528.4(MAN2B1):c.2923+20T>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2050575	NM_000528.4(MAN2B1):c.2923+16G>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2886196	NM_000528.4(MAN2B1):c.2923+12G>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2766438	NM_000528.4(MAN2B1):c.2923+10T>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1082900	NM_000528.4(MAN2B1):c.2923+9C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2676432	NM_000528.4(MAN2B1):c.2917_2923+1dup	MAN2B1	Duplication (splice donor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 551633	NM_000528.4(MAN2B1):c.2921_2922del (p.Thr974fs)	MAN2B1 (T974fs +1 more)	Microsatellite (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 370959	NM_000528.4(MAN2B1):c.2922del (p.Gly975fs)	MAN2B1 (G975fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1372339	NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs)	MAN2B1 (T974fs +1 more)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 527127	NM_000528.4(MAN2B1):c.2917A>G (p.Asn973Asp)	MAN2B1 (N973D +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1118925	NM_000528.4(MAN2B1):c.2913A>G (p.Thr971=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1008483	NM_000528.4(MAN2B1):c.2912C>T (p.Thr971Ile)	MAN2B1 (T970I +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1363319	NM_000528.4(MAN2B1):c.2906A>G (p.Lys969Arg)	MAN2B1 (K969R +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2144283	NM_000528.4(MAN2B1):c.2903T>C (p.Leu968Pro)	MAN2B1 (L967P +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 946816	NM_000528.4(MAN2B1):c.2887_2902del (p.Glu963fs)	MAN2B1 (E962fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 2739867	NM_000528.4(MAN2B1):c.2885_2898del (p.Arg962fs)	MAN2B1 (R961fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 1539800	NM_000528.4(MAN2B1):c.2898C>T (p.Ser966=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 938194	NM_000528.4(MAN2B1):c.2896T>G (p.Ser966Ala)	MAN2B1 (S966A +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1132579	NM_000528.4(MAN2B1):c.2892A>G (p.Ala964=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1683262	NM_000528.4(MAN2B1):c.2887del (p.Glu963fs)	MAN2B1 (E962fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 962313	NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter)	MAN2B1 (E963* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic
Select item 328252	NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 1898921	NM_000528.4(MAN2B1):c.2885G>C (p.Arg962Pro)	MAN2B1 (R962P +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 554495	NM_000528.4(MAN2B1):c.2885G>A (p.Arg962His)	MAN2B1 (R962H +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 749278	NM_000528.4(MAN2B1):c.2884C>T (p.Arg962Cys)	MAN2B1 (R961C +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GBenign
Select item 890568	NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 990080	NM_000528.4(MAN2B1):c.2879A>G (p.Gln960Arg)	MAN2B1 (Q959R +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 666350	NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs)	MAN2B1 (T955fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 1154173	NM_000528.4(MAN2B1):c.2877C>T (p.Asn959=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2161453	NM_000528.4(MAN2B1):c.2870T>C (p.Val957Ala)	MAN2B1 (V957A +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GConflicting classifications of pathogenicity
Select item 208280	NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)	MAN2B1 (L956R +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 328253	NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 93215	NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)	MAN2B1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1388392	NM_000528.4(MAN2B1):c.2864C>T (p.Thr955Met)	MAN2B1 (T955M +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2096148	NM_000528.4(MAN2B1):c.2862C>G (p.Thr954=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1534161	NM_000528.4(MAN2B1):c.2862C>T (p.Thr954=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 851060	NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1671305	NM_000528.4(MAN2B1):c.2853G>A (p.Leu951=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign

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