ClinVar for Gene (Select 11253) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292809	NM_016219.5(MAN1B1):c.812A>G (p.His271Arg)	MAN1B1 (H271R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292808	NM_016219.5(MAN1B1):c.2018C>T (p.Ser673Phe)	MAN1B1 (S673F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	ABCA2, ABL1 +147 more	Duplication	not provided	GUncertain significance
Select item 3245245	NC_000009.11:g.(?_139981452)_(140036619_?)dup	DPP7, GRIN1 +1 more	Duplication	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 3245243	NC_000009.11:g.(?_139981452)_(140003043_?)del	MAN1B1	Deletion	Rafiq syndrome	GPathogenic
Select item 3122464	NM_016219.5(MAN1B1):c.944C>T (p.Ser315Leu)	MAN1B1 (S279L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122463	NM_016219.5(MAN1B1):c.88G>C (p.Ala30Pro)	LOC130003078, MAN1B1 (A30P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122462	NM_016219.5(MAN1B1):c.658G>A (p.Glu220Lys)	MAN1B1 (E184K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122461	NM_016219.5(MAN1B1):c.335C>G (p.Ala112Gly)	MAN1B1 (A76G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122460	NM_016219.5(MAN1B1):c.28G>C (p.Gly10Arg)	LOC130003078, MAN1B1 (G10R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122459	NM_016219.5(MAN1B1):c.1082G>A (p.Arg361Gln)	MAN1B1 (R325Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122458	NM_016219.5(MAN1B1):c.101C>T (p.Thr34Ile)	LOC130003078, MAN1B1 (T34I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065191	NM_016219.5(MAN1B1):c.2072A>G (p.His691Arg)	MAN1B1 (H655R +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3047561	NM_016219.5(MAN1B1):c.772C>T (p.Leu258=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	MAN1B1-related disorder	GLikely benign
Select item 3034572	NM_016219.5(MAN1B1):c.1255-4G>T	MAN1B1	Single nucleotide variant (intron variant)	MAN1B1-related disorder	GLikely benign
Select item 3019264	NM_016219.5(MAN1B1):c.1896+9C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 3014905	NM_016219.5(MAN1B1):c.1397_1398del (p.Tyr465_Tyr466insTer)	MAN1B1	Deletion (frameshift variant +2 more)	Rafiq syndrome	GPathogenic
Select item 3005632	NM_016219.5(MAN1B1):c.730+13C>G	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 3003220	NM_016219.5(MAN1B1):c.42C>T (p.Ser14=)	MAN1B1, LOC130003078	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2978001	NM_016219.5(MAN1B1):c.1764+14T>C	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2977559	NM_016219.5(MAN1B1):c.1608C>T (p.Gly536=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2965924	NM_016219.5(MAN1B1):c.402C>T (p.Pro134=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2962451	NM_016219.5(MAN1B1):c.1066-18A>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2959358	NM_016219.5(MAN1B1):c.1992G>T (p.Thr664=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2958097	NM_016219.5(MAN1B1):c.1489C>T (p.His497Tyr)	MAN1B1 (H497Y +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2957376	NM_016219.5(MAN1B1):c.219+16G>C	LOC130003079, MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2920110	NM_016219.5(MAN1B1):c.1050C>G (p.Leu350=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2919141	NM_016219.5(MAN1B1):c.1896+8C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome +1 more	GLikely benign
Select item 2917791	NM_016219.5(MAN1B1):c.1066-18A>G	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2914901	NM_016219.5(MAN1B1):c.916+14T>C	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2914633	NM_016219.5(MAN1B1):c.1254+14C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2912799	NM_016219.5(MAN1B1):c.1344C>T (p.Gly448=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2911796	NM_016219.5(MAN1B1):c.1084C>T (p.Leu362=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2911112	NM_016219.5(MAN1B1):c.816C>T (p.Asp272=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2903038	NM_016219.5(MAN1B1):c.1137C>T (p.Ile379=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2902431	NM_016219.5(MAN1B1):c.1254+9G>A	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2900836	NM_016219.5(MAN1B1):c.969C>T (p.Asp323=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2900320	NM_016219.5(MAN1B1):c.1480G>A (p.Val494Ile)	MAN1B1 (V458I +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2897954	NM_016219.5(MAN1B1):c.730+8C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2890681	NM_016219.5(MAN1B1):c.1445+15G>A	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2890477	NM_016219.5(MAN1B1):c.1445+9C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2884919	NM_016219.5(MAN1B1):c.1020G>T (p.Leu340=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2875672	NM_016219.5(MAN1B1):c.1254+15T>C	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2875548	NM_016219.5(MAN1B1):c.1260A>C (p.Ala420=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2875048	NM_016219.5(MAN1B1):c.219+13C>T	LOC130003079, MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2872891	NM_016219.5(MAN1B1):c.329-14C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2845853	NM_016219.5(MAN1B1):c.620+20C>G	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2839178	NM_016219.5(MAN1B1):c.1029C>T (p.Tyr343=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2831294	NM_016219.5(MAN1B1):c.645T>C (p.Pro215=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2827754	NM_016219.5(MAN1B1):c.1314G>C (p.Leu438=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2813889	NM_016219.5(MAN1B1):c.1764+17G>A	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2807983	NM_016219.5(MAN1B1):c.1566+11C>G	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2791167	NM_016219.5(MAN1B1):c.1241del (p.Asp414fs)	MAN1B1 (D414fs)	Deletion (frameshift variant +1 more)	Rafiq syndrome	GPathogenic
Select item 2779887	NM_016219.5(MAN1B1):c.540G>A (p.Gly180=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2763146	NM_016219.5(MAN1B1):c.1347C>T (p.Leu449=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2746665	NM_016219.5(MAN1B1):c.2064C>T (p.Thr688=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2746604	NM_016219.5(MAN1B1):c.2041C>T (p.Leu681=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2740834	NM_016219.5(MAN1B1):c.31G>A (p.Ala11Thr)	LOC130003078, MAN1B1 (A11T)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GBenign
Select item 2740718	NM_016219.5(MAN1B1):c.620+12A>G	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2739268	NM_016219.5(MAN1B1):c.1446-10G>C	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2738830	NM_016219.5(MAN1B1):c.731-18CT[2]	MAN1B1	Microsatellite (intron variant)	Rafiq syndrome	GLikely benign
Select item 2732691	NM_016219.5(MAN1B1):c.375T>C (p.Ile125=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2731126	NM_016219.5(MAN1B1):c.1255-13del	MAN1B1	Deletion (intron variant)	Rafiq syndrome	GBenign
Select item 2730511	NM_016219.5(MAN1B1):c.1446-19T>C	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2729417	NM_016219.5(MAN1B1):c.1567-18G>A	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GBenign
Select item 2728172	NM_016219.5(MAN1B1):c.1740G>A (p.Pro580=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2724642	NM_016219.5(MAN1B1):c.223T>C (p.Trp75Arg)	MAN1B1 (W75R +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2723654	NM_016219.5(MAN1B1):c.219+20G>A	LOC130003079, MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2722486	NM_016219.5(MAN1B1):c.36C>G (p.Leu12=)	LOC130003078, MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2721817	NM_016219.5(MAN1B1):c.1566+15G>A	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2718891	NM_016219.5(MAN1B1):c.1255-9C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2718341	NM_016219.5(MAN1B1):c.1254+13G>C	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2715654	NM_016219.5(MAN1B1):c.1011G>A (p.Gly337=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2715092	NM_016219.5(MAN1B1):c.1306G>C (p.Asp436His)	MAN1B1 (D400H +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2706466	NM_016219.5(MAN1B1):c.620+10G>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2659806	NM_016219.5(MAN1B1):c.*258C>A	MAN1B1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2659805	NM_016219.5(MAN1B1):c.1896+230C>T	MAN1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2659804	NM_016219.5(MAN1B1):c.1896+31C>T	MAN1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2659803	NM_016219.5(MAN1B1):c.1254+2089_1254+2090del	MAN1B1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2659802	NM_016219.5(MAN1B1):c.1254+800_1254+803del	MAN1B1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2659801	NM_016219.5(MAN1B1):c.1125G>A (p.Ser375=)	MAN1B1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2659800	NM_016219.5(MAN1B1):c.630A>C (p.Gly210=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2626940	NM_016219.5(MAN1B1):c.1722C>G (p.Phe574Leu)	MAN1B1 (F538L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2623604	NM_016219.5(MAN1B1):c.649C>G (p.Gln217Glu)	MAN1B1 (Q181E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606751	NM_016219.5(MAN1B1):c.111G>C (p.Met37Ile)	LOC130003078, MAN1B1 (M37I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605727	NM_016219.5(MAN1B1):c.346G>C (p.Glu116Gln)	MAN1B1 (E116Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2580763	NM_016219.5(MAN1B1):c.1013G>T (p.Gly338Val)	MAN1B1 (G302V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2579642	NM_016219.5(MAN1B1):c.624G>A (p.Trp208Ter)	MAN1B1 (W172* +1 more)	Single nucleotide variant (nonsense +1 more)	Rafiq syndrome	GPathogenic
Select item 2576946	NM_016219.5(MAN1B1):c.1804G>A (p.Glu602Lys)	MAN1B1 (E566K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2576631	GRCh37/hg19 9q34.3(chr9:139972953-140954193)x3	ANAPC2, ARRDC1 +31 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576630	GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3	ABCA2, AJM1 +52 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576628	GRCh37/hg19 9q34.3(chr9:139942000-141074000)x3	ANAPC2, ARRDC1 +33 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2548884	NM_016219.5(MAN1B1):c.1340G>A (p.Ser447Asn)	MAN1B1 (S411N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533062	NM_016219.5(MAN1B1):c.949A>G (p.Lys317Glu)	MAN1B1 (K317E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520654	NM_016219.5(MAN1B1):c.170G>C (p.Gly57Ala)	LOC130003079, MAN1B1 (G57A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505851	NM_016219.5(MAN1B1):c.589C>G (p.Pro197Ala)	MAN1B1 (P161A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2505837	NM_016219.5(MAN1B1):c.1739C>T (p.Pro580Leu)	MAN1B1 (P544L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2476147	NM_016219.5(MAN1B1):c.65C>T (p.Pro22Leu)	LOC130003078, MAN1B1 (P22L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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