ClinVar for MedGen (Select 481757) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	MAN1B1-related condition +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 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 2431688	NM_016219.5(MAN1B1):c.1972del (p.Ser658fs)	MAN1B1 (S658fs)	Deletion (frameshift variant +1 more)	Rafiq syndrome	GLikely pathogenic
Select item 2426284	NC_000009.11:g.(?_140000557)_(140003043_?)dup	MAN1B1	Duplication	Rafiq syndrome	GUncertain significance
Select item 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	EGFL7, PAXX +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 2423030	NM_016219.5(MAN1B1):c.765C>T (p.Asp255=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Rafiq syndrome +4 more	GUncertain significance
Select item 2421461	NM_016219.5(MAN1B1):c.102T>C (p.Thr34=)	LOC130003078, MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2415497	NM_016219.5(MAN1B1):c.1013G>C (p.Gly338Ala)	MAN1B1 (G302A +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2389371	NM_016219.5(MAN1B1):c.1682G>A (p.Arg561Gln)	MAN1B1 (R561Q +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome +1 more	GUncertain significance
Select item 2201663	NM_016219.5(MAN1B1):c.1897-5C>A	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2201242	NM_016219.5(MAN1B1):c.879C>T (p.Asp293=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2199380	NM_016219.5(MAN1B1):c.1066-15C>G	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2193467	NM_016219.5(MAN1B1):c.525A>G (p.Gln175=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2193421	NM_016219.5(MAN1B1):c.1896+16C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2189013	NM_016219.5(MAN1B1):c.1217G>A (p.Arg406Gln)	MAN1B1 (R370Q +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2188367	NM_016219.5(MAN1B1):c.1764+2TGGGCC[3]	MAN1B1	Microsatellite (splice donor variant)	Rafiq syndrome	GLikely benign
Select item 2186254	NM_016219.5(MAN1B1):c.219+9C>A	LOC130003079, MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2185756	NM_016219.5(MAN1B1):c.220-9C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2185545	NM_016219.5(MAN1B1):c.892A>G (p.Met298Val)	MAN1B1 (M298V +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2184037	NM_016219.5(MAN1B1):c.970G>A (p.Val324Met)	MAN1B1 (V288M +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2178511	NM_016219.5(MAN1B1):c.1790G>A (p.Arg597Gln)	MAN1B1 (R561Q +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2176162	NM_016219.5(MAN1B1):c.916+10G>A	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2175288	NM_016219.5(MAN1B1):c.1157C>T (p.Pro386Leu)	MAN1B1 (P350L +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2171331	NM_016219.5(MAN1B1):c.1676T>C (p.Met559Thr)	MAN1B1 (M523T +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2170765	NM_016219.5(MAN1B1):c.1707C>T (p.Pro569=)	MAN1B1	Single nucleotide variant (non-coding transcript variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2168040	NM_016219.5(MAN1B1):c.164G>C (p.Ser55Thr)	MAN1B1, LOC130003079 (S19T +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2166336	NM_016219.5(MAN1B1):c.1066-10C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2163985	NM_016219.5(MAN1B1):c.49T>C (p.Ser17Pro)	LOC130003078, MAN1B1 (S17P)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2161508	NM_016219.5(MAN1B1):c.9C>T (p.Ala3=)	LOC130003078, MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2161430	NM_016219.5(MAN1B1):c.632C>T (p.Ala211Val)	MAN1B1 (A175V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2159953	NM_016219.5(MAN1B1):c.677C>T (p.Ala226Val)	MAN1B1 (A190V +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2159627	NM_016219.5(MAN1B1):c.1566+14C>A	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2156849	NM_016219.5(MAN1B1):c.746G>A (p.Arg249His)	MAN1B1 (R213H +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2155176	NM_016219.5(MAN1B1):c.1792C>T (p.Pro598Ser)	MAN1B1 (P562S +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2153987	NM_016219.5(MAN1B1):c.2046_2047inv (p.Ala683Thr)	MAN1B1 (A683T)	Inversion (synonymous variant +2 more)	Rafiq syndrome	GUncertain significance
Select item 2151188	NM_016219.5(MAN1B1):c.1474G>A (p.Glu492Lys)	MAN1B1 (E456K +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2149600	NM_016219.5(MAN1B1):c.1748G>A (p.Arg583Gln)	MAN1B1 (R583Q +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome +1 more	GUncertain significance
Select item 2147281	NM_016219.5(MAN1B1):c.1566+20C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign

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