ClinVar for MedGen (Select 78539) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254935	NM_152564.5(VPS13B):c.11641C>T (p.Gln3881Ter)	VPS13B (Q3881* +1 more)	Single nucleotide variant (nonsense)	Cohen syndrome	GPathogenic
Select item 3245484	NC_000008.10:g.(?_100115944)_(100711757_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245482	NC_000008.10:g.(?_99346108)_(100589843_?)del	KCNS2, OSR2 +2 more	Deletion	Cohen syndrome	GPathogenic
Select item 3245481	NC_000008.10:g.(?_100781239)_(100789156_?)del	VPS13B	Deletion	Cohen syndrome	GLikely pathogenic
Select item 3245480	NC_000008.10:g.(?_100050713)_(100057034_?)del	VPS13B	Deletion	Cohen syndrome	GLikely pathogenic
Select item 3245479	NC_000008.10:g.(?_100515082)_(100516199_?)del	VPS13B	Deletion	Cohen syndrome	GLikely pathogenic
Select item 3245478	NC_000008.10:g.(?_100479254)_(100479653_?)del	VPS13B	Deletion	Cohen syndrome	GLikely pathogenic
Select item 3245477	NC_000008.10:g.(?_100162579)_(100168929_?)del	VPS13B	Deletion	Cohen syndrome	GLikely pathogenic
Select item 3245476	NC_000008.10:g.(?_100133385)_(100160258_?)dup	VPS13B	Duplication	Cohen syndrome	GLikely pathogenic
Select item 3245475	NC_000008.10:g.(?_100790890)_(100836226_?)dup	VPS13B	Duplication	Cohen syndrome	GLikely pathogenic
Select item 3245474	NC_000008.10:g.(?_100108520)_(100155413_?)dup	VPS13B	Duplication	Cohen syndrome	GPathogenic
Select item 3245473	NC_000008.10:g.(?_100673562)_(100847986_?)dup	VPS13B	Duplication	Cohen syndrome	GLikely pathogenic
Select item 3245471	NC_000008.10:g.(?_100050631)_(100128122_?)dup	VPS13B	Duplication	Cohen syndrome	GLikely pathogenic
Select item 3245470	NC_000008.10:g.(?_100050631)_(100287502_?)dup	VPS13B	Duplication	Cohen syndrome	GLikely pathogenic
Select item 3245469	NC_000008.10:g.(?_100443745)_(100533258_?)dup	VPS13B	Duplication	Cohen syndrome	GLikely pathogenic
Select item 3245468	NC_000008.10:g.(?_100403765)_(100403952_?)dup	VPS13B	Duplication	Cohen syndrome	GLikely pathogenic
Select item 3245467	NC_000008.10:g.(?_100146840)_(100403952_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245466	NC_000008.10:g.(?_100127908)_(100287502_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245465	NC_000008.10:g.(?_100882993)_(100883945_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245464	NC_000008.10:g.(?_100123306)_(100168991_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245463	NC_000008.10:g.(?_100880497)_(100887894_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245462	NC_000008.10:g.(?_100115161)_(100123527_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245459	NC_000008.10:g.(?_100788983)_(100791279_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245458	NC_000008.10:g.(?_100108520)_(100115368_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245457	NC_000008.10:g.(?_100108520)_(100403952_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245456	NC_000008.10:g.(?_100711743)_(100733285_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245455	NC_000008.10:g.(?_100654019)_(100887894_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245454	NC_000008.10:g.(?_100587866)_(100712180_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245453	NC_000008.10:g.(?_100587866)_(100589881_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245452	NC_000008.10:g.(?_100533107)_(100589881_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245451	NC_000008.10:g.(?_100050631)_(100205305_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245450	NC_000008.10:g.(?_100050631)_(100155413_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245448	NC_000008.10:g.(?_100523312)_(100779218_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245447	NC_000008.10:g.(?_100515082)_(100589871_?)del	VPS13B	Deletion	Cohen syndrome	GLikely pathogenic
Select item 3245446	NC_000008.10:g.(?_100479619)_(100533258_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245445	NC_000008.10:g.(?_100454609)_(100589881_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245444	NC_000008.11:g.(?_99384188)_(99721067_?)del	LOC110120801, MIR599 +2 more	Deletion	Cohen syndrome	GPathogenic
Select item 3245443	NC_000008.10:g.(?_100396416)_(100515198_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245442	NC_000008.10:g.(?_100396416)_(100479882_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245441	NC_000008.10:g.(?_100286406)_(100533258_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245440	NC_000008.10:g.(?_100286406)_(100515198_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245439	NC_000008.10:g.(?_100286406)_(100287502_?)del	VPS13B	Deletion	Cohen syndrome	GLikely pathogenic
Select item 3245437	NC_000008.10:g.(?_100205084)_(100589881_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245436	NC_000008.10:g.(?_100182247)_(100589881_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245435	NC_000008.10:g.(?_100182247)_(100403952_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245434	NC_000008.10:g.(?_100182257)_(100287492_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245433	NC_000008.10:g.(?_100168757)_(100205305_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245432	NC_000008.10:g.(?_99594279)_(100513908_?)del	STK3, VPS13B +1 more	Deletion	Cohen syndrome	GPathogenic
Select item 3245431	NC_000008.10:g.(?_100133385)_(100133693_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245430	NC_000008.10:g.(?_100108520)_(100108680_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245429	NC_000008.10:g.(?_100479622)_(100479882_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3245428	NC_000008.10:g.(?_100205084)_(100205305_?)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
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

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