ClinVar for MedGen (Select 78539) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064689	NM_152564.5(VPS13B):c.2247C>A (p.Cys749Ter)	VPS13B (C749*)	Single nucleotide variant (nonsense)	Cohen syndrome	GLikely pathogenic
Select item 3064135	NM_152564.5(VPS13B):c.11938T>G (p.Phe3980Val)	VPS13B (F3980V +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3024073	NM_152564.5(VPS13B):c.11044+1G>A	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GLikely pathogenic
Select item 3024030	NM_152564.5(VPS13B):c.8445+16A>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3023791	NM_152564.5(VPS13B):c.581-13T>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3023129	NM_152564.5(VPS13B):c.9370C>T (p.Pro3124Ser)	VPS13B (P3124S +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3023059	NM_152564.5(VPS13B):c.7344A>G (p.Pro2448=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3022939	NM_152564.5(VPS13B):c.3082+14A>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3022912	NM_152564.5(VPS13B):c.8793-19G>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3022679	NM_152564.5(VPS13B):c.1651+14T>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3022657	NM_152564.5(VPS13B):c.4633+14A>T	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3021648	NM_152564.5(VPS13B):c.11855C>G (p.Pro3952Arg)	VPS13B (P3952R +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3021645	NM_152564.5(VPS13B):c.10937T>G (p.Val3646Gly)	VPS13B (V3671G +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3021643	NM_152564.5(VPS13B):c.937+16A>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3021514	NM_152564.5(VPS13B):c.9615-15T>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3019525	NM_152564.5(VPS13B):c.938-17_938-16del	VPS13B	Deletion (intron variant)	Cohen syndrome	GLikely benign
Select item 3018741	NM_152564.5(VPS13B):c.9705A>G (p.Arg3235=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3018569	NM_152564.5(VPS13B):c.721A>G (p.Thr241Ala)	VPS13B (T241A)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 3018315	NM_152564.5(VPS13B):c.3082+9C>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3018164	NM_152564.5(VPS13B):c.11745+10A>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3018120	NM_152564.5(VPS13B):c.8793-2A>G	VPS13B	Single nucleotide variant (splice acceptor variant)	Cohen syndrome	GLikely pathogenic
Select item 3018116	NM_152564.5(VPS13B):c.276del (p.Lys93fs)	VPS13B (K93fs)	Deletion (non-coding transcript variant +1 more)	Cohen syndrome	GPathogenic
Select item 3017452	NM_152564.5(VPS13B):c.1426-14G>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3017217	NM_152564.5(VPS13B):c.1318G>T (p.Glu440Ter)	VPS13B (E440*)	Single nucleotide variant (nonsense)	Cohen syndrome	GPathogenic
Select item 3016806	NM_152564.5(VPS13B):c.5908+7A>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3016572	NM_152564.5(VPS13B):c.1207-19A>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3015479	NM_152564.5(VPS13B):c.10062-16T>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3015426	NM_152564.5(VPS13B):c.413-15T>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3013484	NM_152564.5(VPS13B):c.6226dup (p.Tyr2076fs)	VPS13B (Y2076fs +1 more)	Duplication (frameshift variant)	Cohen syndrome	GPathogenic
Select item 3013483	NM_152564.5(VPS13B):c.11979G>A (p.Arg3993=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3012418	NM_152564.5(VPS13B):c.4485A>G (p.Pro1495=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3011827	NM_152564.5(VPS13B):c.9942+17T>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3011656	NM_152564.5(VPS13B):c.413-19del	VPS13B	Deletion (intron variant)	Cohen syndrome	GLikely benign
Select item 3010757	NM_152564.5(VPS13B):c.9614+8_9614+9del	VPS13B	Deletion (intron variant)	Cohen syndrome	GLikely benign
Select item 3010664	NM_152564.5(VPS13B):c.291+11A>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3010471	NM_152564.5(VPS13B):c.10038A>G (p.Gly3346=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3010163	NM_152564.5(VPS13B):c.6519A>G (p.Lys2173=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3009819	NM_152564.5(VPS13B):c.11583G>T (p.Gly3861=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3009814	NM_152564.5(VPS13B):c.1302+17G>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3008711	NM_152564.5(VPS13B):c.2935-17A>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3008514	NM_152564.5(VPS13B):c.4379CTC[1] (p.Pro1461del)	VPS13B (P1486del +1 more)	Microsatellite (inframe_deletion)	Cohen syndrome	GUncertain significance
Select item 3008279	NM_152564.5(VPS13B):c.2516-13T>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3006398	NM_152564.5(VPS13B):c.5076+8C>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3005874	NM_152564.5(VPS13B):c.762+11C>T	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3005824	NM_152564.5(VPS13B):c.10359C>T (p.Pro3453=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3005688	NM_152564.5(VPS13B):c.9498C>G (p.Ala3166=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3005577	NM_152564.5(VPS13B):c.3871-17T>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3005121	NM_152564.5(VPS13B):c.6456C>T (p.Gly2152=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3004180	NM_152564.5(VPS13B):c.10080del (p.Thr3361fs)	VPS13B (T3386fs +1 more)	Deletion (frameshift variant)	Cohen syndrome	GPathogenic
Select item 3004015	NM_152564.5(VPS13B):c.480A>G (p.Leu160=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 3002312	NM_152564.5(VPS13B):c.7248-9T>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3002290	NM_152564.5(VPS13B):c.7119G>C (p.Leu2373=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3001935	NM_152564.5(VPS13B):c.10020C>A (p.Ala3340=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3001447	NM_152564.5(VPS13B):c.4745+7T>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3001318	NM_152564.5(VPS13B):c.11793G>A (p.Leu3931=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2999030	NM_152564.5(VPS13B):c.3774G>T (p.Gly1258=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2998888	NM_152564.5(VPS13B):c.1425+17C>T	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 2998582	NM_152564.5(VPS13B):c.2934+19A>T	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 2997740	NM_152564.5(VPS13B):c.11805C>T (p.Ile3935=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2996233	NM_152564.5(VPS13B):c.11493C>G (p.Val3831=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2996044	NM_152564.5(VPS13B):c.2935-12G>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 2994238	NM_152564.5(VPS13B):c.6834dup (p.Thr2279fs)	VPS13B (T2279fs +1 more)	Duplication (frameshift variant)	Cohen syndrome	GPathogenic
Select item 2994161	NM_152564.5(VPS13B):c.2334-19T>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 2993906	NM_152564.5(VPS13B):c.3536T>G (p.Met1179Arg)	VPS13B (M1179R)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 2993861	NM_152564.5(VPS13B):c.1335C>T (p.Cys445=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2993316	NM_152564.5(VPS13B):c.3446-9C>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 2993196	NM_152564.5(VPS13B):c.11393-12C>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 2990633	NM_152564.5(VPS13B):c.1206+7C>G	VPS13B (L405V)	Single nucleotide variant (missense variant +2 more)	Cohen syndrome	GLikely benign
Select item 2990253	NM_152564.5(VPS13B):c.1032A>G (p.Gly344=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 2989274	NM_152564.5(VPS13B):c.11809A>G (p.Lys3937Glu)	VPS13B (K3937E +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 2989234	NM_152564.5(VPS13B):c.5562A>G (p.Glu1854=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2989111	NM_152564.5(VPS13B):c.10128C>T (p.Asp3376=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2988856	NM_152564.5(VPS13B):c.8871G>A (p.Leu2957=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2988577	NM_152564.5(VPS13B):c.7860C>A (p.Gly2620=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2987424	NM_152564.5(VPS13B):c.8268G>C (p.Leu2756=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2986208	NM_152564.5(VPS13B):c.6047-11T>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 2985396	NM_152564.5(VPS13B):c.8001G>A (p.Val2667=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2984535	NM_152564.5(VPS13B):c.413-18T>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 2982839	NM_152564.5(VPS13B):c.9183+20G>T	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 2982431	NM_152564.5(VPS13B):c.10476T>C (p.Cys3492=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2981938	NM_152564.5(VPS13B):c.1990C>T (p.Leu664=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2980897	NM_152564.5(VPS13B):c.8721C>T (p.Ile2907=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2980360	NM_152564.5(VPS13B):c.1206+12C>T	VPS13B	Single nucleotide variant (synonymous variant +2 more)	Cohen syndrome	GLikely benign
Select item 2978294	NM_152564.5(VPS13B):c.6047-15T>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 2977595	NM_152564.5(VPS13B):c.5233G>T (p.Glu1745Ter)	VPS13B (E1745* +1 more)	Single nucleotide variant (nonsense)	Cohen syndrome	GPathogenic
Select item 2976819	NM_152564.5(VPS13B):c.11496G>A (p.Trp3832Ter)	VPS13B (W3832* +1 more)	Single nucleotide variant (nonsense)	Cohen syndrome	GPathogenic
Select item 2976094	NM_152564.5(VPS13B):c.7247+19A>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 2975282	NM_152564.5(VPS13B):c.8581A>G (p.Ile2861Val)	VPS13B (I2861V +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 2974644	NM_152564.5(VPS13B):c.1206+20G>T	VPS13B (C409F)	Single nucleotide variant (missense variant +2 more)	Cohen syndrome	GLikely benign
Select item 2973497	NM_152564.5(VPS13B):c.5463C>A (p.Ile1821=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2973047	NM_152564.5(VPS13B):c.5077-15C>T	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 2970947	NM_152564.5(VPS13B):c.7051-13del	VPS13B	Deletion (intron variant)	Cohen syndrome	GBenign
Select item 2969395	NM_152564.5(VPS13B):c.1431C>G (p.Ala477=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2969115	NM_152564.5(VPS13B):c.3210+16G>T	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 2968937	NM_152564.5(VPS13B):c.11393-16_11393-13del	VPS13B	Deletion (intron variant)	Cohen syndrome	GLikely benign
Select item 2966840	NM_152564.5(VPS13B):c.9331-15_9331-3del	VPS13B	Deletion (intron variant)	Cohen syndrome	GLikely benign
Select item 2966716	NM_152564.5(VPS13B):c.6455-16del	VPS13B	Deletion (intron variant)	Cohen syndrome	GLikely benign
Select item 2966709	NM_152564.5(VPS13B):c.8253A>G (p.Leu2751=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2966675	NM_152564.5(VPS13B):c.8316T>C (p.Asp2772=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 2966630	NM_152564.5(VPS13B):c.11331C>T (p.Ile3777=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign

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