ClinVar for MedGen (Select 78539) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3907120	NC_000008.10:g.(100287483_100396435)_(100589862_100654038)del	VPS13B	Deletion	Cohen syndrome	GPathogenic
Select item 3907102	NC_000008.10:g.(100396546_100403784)_(100589862_100654038)del	VPS13B	Deletion	Cohen syndrome	GLikely pathogenic
Select item 3896355	NM_152564.5(VPS13B):c.9331-2del	VPS13B	Deletion (splice acceptor variant)	Cohen syndrome	GLikely pathogenic
Select item 3892855	NM_152564.5(VPS13B):c.11839_11842del (p.Ser3947fs)	VPS13B (S3947fs +1 more)	Deletion (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 3892854	NM_152564.5(VPS13B):c.9331-3_9331-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	VPS13B	Insertion (intron variant)	Cohen syndrome	GUncertain significance
Select item 3892853	NM_152564.5(VPS13B):c.9331-6_9331-3dup	VPS13B	Duplication (intron variant)	Cohen syndrome	GLikely benign
Select item 3892852	NM_152564.5(VPS13B):c.9331-25_9331-3dup	VPS13B	Duplication (intron variant)	Cohen syndrome	GLikely benign
Select item 3892851	NM_152564.5(VPS13B):c.2441_2442del (p.Ser814fs)	VPS13B (S814fs)	Deletion (frameshift variant)	Cohen syndrome	GUncertain significance
Select item 3892850	NM_152564.5(VPS13B):c.8447T>C (p.Ile2816Thr)	VPS13B (I2841T +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3892849	NM_152564.5(VPS13B):c.7751T>G (p.Leu2584Arg)	VPS13B (L2609R +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3892848	NM_152564.5(VPS13B):c.1807G>A (p.Glu603Lys)	VPS13B (E603K)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3780786	NM_152564.5(VPS13B):c.8029del (p.Ile2677fs)	VPS13B (I2677fs +1 more)	Deletion (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 3776252	NM_152564.5(VPS13B):c.3445+1G>A	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GPathogenic
Select item 3776131	NM_152564.5(VPS13B):c.11904C>A (p.Tyr3968Ter)	VPS13B (Y3968* +1 more)	Single nucleotide variant (nonsense)	Cohen syndrome	GUncertain significance
Select item 3776072	NM_152564.5(VPS13B):c.4633+1G>T	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GLikely pathogenic
Select item 3775617	NM_152564.5(VPS13B):c.8512A>T (p.Lys2838Ter)	VPS13B (K2838* +1 more)	Single nucleotide variant (nonsense)	Cohen syndrome	GLikely pathogenic
Select item 3775445	NM_152564.5(VPS13B):c.3400dup (p.Leu1134fs)	VPS13B (L1134fs)	Duplication (frameshift variant)	Cohen syndrome	GPathogenic
Select item 3770242	NM_152564.5(VPS13B):c.6896_6897delinsAAGACCCAGTTTCA (p.Val2299delinsGluAspProValSer)	VPS13B	Indel (inframe_indel)	Cohen syndrome	GUncertain significance
Select item 3730110	NM_152564.5(VPS13B):c.4042+7G>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3729804	NM_152564.5(VPS13B):c.8679A>G (p.Gln2893=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3729363	NM_152564.5(VPS13B):c.7642A>G (p.Ile2548Val)	VPS13B (I2573V +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3729136	NM_152564.5(VPS13B):c.4224+563C>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3728409	NM_152564.5(VPS13B):c.7942-4C>T	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3728222	NM_152564.5(VPS13B):c.147+14C>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3727591	NM_152564.5(VPS13B):c.7004_7005del (p.Thr2335fs)	VPS13B (T2360fs +1 more)	Microsatellite (frameshift variant)	Cohen syndrome	GPathogenic
Select item 3727424	NM_152564.5(VPS13B):c.9183+14C>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3726828	NM_152564.5(VPS13B):c.4224+562T>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3726363	NM_152564.5(VPS13B):c.2769T>C (p.Asp923=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3726275	NM_152564.5(VPS13B):c.8621+17T>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3725823	NM_152564.5(VPS13B):c.11610C>G (p.Leu3870=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3725650	NM_152564.5(VPS13B):c.4341_4342insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATGAGCGAAGA (p.Ser1448delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysLysTer)	VPS13B	Insertion (nonsense)	Cohen syndrome	GPathogenic
Select item 3724534	NM_152564.5(VPS13B):c.10281del (p.Gln3428fs)	VPS13B (Q3428fs +1 more)	Deletion (frameshift variant)	Cohen syndrome	GPathogenic
Select item 3724370	NM_017890.5(VPS13B):c.4168G>T (p.Glu1390Ter)	VPS13B (E1390*)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome	GPathogenic
Select item 3724342	NM_152564.5(VPS13B):c.2557del (p.Ile853fs)	VPS13B (I853fs)	Deletion (frameshift variant)	Cohen syndrome	GPathogenic
Select item 3723979	NM_152564.5(VPS13B):c.8241T>G (p.Pro2747=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3723747	NM_152564.5(VPS13B):c.7942-11T>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3723362	NM_152564.5(VPS13B):c.8082T>C (p.Asn2694=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3722887	NM_152564.5(VPS13B):c.726T>G (p.Tyr242Ter)	VPS13B (Y242*)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome	GPathogenic
Select item 3722766	NM_152564.5(VPS13B):c.9331-3T>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GUncertain significance
Select item 3722286	NM_152564.5(VPS13B):c.4950-9A>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3720742	NM_152564.5(VPS13B):c.3565T>A (p.Ser1189Thr)	VPS13B (S1189T)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3720002	NM_152564.5(VPS13B):c.4141G>A (p.Asp1381Asn)	VPS13B (D1381N)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3720001	NM_152564.5(VPS13B):c.1266A>C (p.Glu422Asp)	VPS13B (E422D)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3719864	NM_152564.5(VPS13B):c.4812del (p.Ile1604fs)	VPS13B (I1629fs +1 more)	Deletion (frameshift variant)	Cohen syndrome	GPathogenic
Select item 3718255	NM_152564.5(VPS13B):c.7543G>C (p.Gly2515Arg)	VPS13B (G2540R +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3717624	NM_152564.5(VPS13B):c.8446-16C>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3717591	NM_152564.5(VPS13B):c.1425+20C>T	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3716509	NM_152564.5(VPS13B):c.7738G>A (p.Val2580Ile)	VPS13B (V2605I +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3716423	NM_152564.5(VPS13B):c.2401A>G (p.Thr801Ala)	VPS13B (T801A)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3714420	NM_152564.5(VPS13B):c.8007T>C (p.His2669=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3713656	NM_152564.5(VPS13B):c.3870+17A>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3713403	NM_152564.5(VPS13B):c.142del (p.Glu48fs)	VPS13B (E48fs)	Deletion (frameshift variant +1 more)	Cohen syndrome	GPathogenic
Select item 3713158	NM_152564.5(VPS13B):c.2902C>T (p.Pro968Ser)	VPS13B (P968S)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3710638	NM_152564.5(VPS13B):c.6939A>G (p.Leu2313=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3710624	NM_152564.5(VPS13B):c.6377C>T (p.Thr2126Ile)	VPS13B (T2126I +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3710159	NM_152564.5(VPS13B):c.9497C>A (p.Ala3166Asp)	VPS13B (A3166D +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3706653	NM_152564.5(VPS13B):c.3179T>C (p.Val1060Ala)	VPS13B (V1060A)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3706625	NM_152564.5(VPS13B):c.7211T>C (p.Val2404Ala)	VPS13B (V2429A +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3706345	NM_152564.5(VPS13B):c.4522C>T (p.Pro1508Ser)	VPS13B (P1508S +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3706192	NM_152564.5(VPS13B):c.5217A>C (p.Ala1739=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3705958	NM_152564.5(VPS13B):c.5220+16T>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3705925	NM_152564.5(VPS13B):c.5817G>A (p.Leu1939=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3704597	NM_152564.5(VPS13B):c.531A>G (p.Glu177=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 3703754	NM_152564.5(VPS13B):c.6658-18T>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3702827	NM_152564.5(VPS13B):c.8347A>G (p.Ser2783Gly)	VPS13B (S2783G +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3702642	NM_152564.5(VPS13B):c.581-16T>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3702370	NM_152564.5(VPS13B):c.11390A>G (p.Tyr3797Cys)	VPS13B (Y3822C +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3702151	NM_152564.5(VPS13B):c.6047-16T>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3699975	NM_152564.5(VPS13B):c.11728G>A (p.Val3910Met)	VPS13B (V3935M +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3699915	NM_152564.5(VPS13B):c.6865G>A (p.Glu2289Lys)	VPS13B (E2289K +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3699595	NM_152564.5(VPS13B):c.11533A>G (p.Met3845Val)	VPS13B (M3870V +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3699442	NM_152564.5(VPS13B):c.7942-20A>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3698561	NM_152564.5(VPS13B):c.9742+11T>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3698143	NM_152564.5(VPS13B):c.1302+7T>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3697429	NM_152564.5(VPS13B):c.9378A>G (p.Gly3126=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3696756	NM_152564.5(VPS13B):c.1937T>C (p.Leu646Pro)	VPS13B (L646P)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3696506	NM_152564.5(VPS13B):c.9742+20del	VPS13B	Deletion (intron variant)	Cohen syndrome	GLikely benign
Select item 3695192	NM_017890.5(VPS13B):c.4230A>G (p.Arg1410=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 3694929	NM_152564.5(VPS13B):c.1651+1G>T	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GLikely pathogenic
Select item 3694291	NM_152564.5(VPS13B):c.11044+9T>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3691115	NM_152564.5(VPS13B):c.10868-17C>T	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3690438	NM_152564.5(VPS13B):c.147+18_147+19insT	VPS13B	Insertion (intron variant)	Cohen syndrome	GLikely benign
Select item 3690280	NM_152564.5(VPS13B):c.2478G>C (p.Val826=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3690243	NM_152564.5(VPS13B):c.1605T>A (p.Ala535=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3689740	NM_152564.5(VPS13B):c.3105T>C (p.Pro1035=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3689176	NM_152564.5(VPS13B):c.1643G>A (p.Ser548Asn)	VPS13B (S548N)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3688396	NM_152564.5(VPS13B):c.4043-18G>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3688384	NM_152564.5(VPS13B):c.1564-18G>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3688091	NM_152564.5(VPS13B):c.6610C>T (p.Gln2204Ter)	VPS13B (Q2229* +1 more)	Single nucleotide variant (nonsense)	Cohen syndrome	GPathogenic
Select item 3688077	NM_152564.5(VPS13B):c.3024G>A (p.Gln1008=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3686466	NM_152564.5(VPS13B):c.5697C>T (p.Ser1899=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3686458	NM_152564.5(VPS13B):c.852T>C (p.Leu284=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 3686261	NM_152564.5(VPS13B):c.9184-17T>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3683063	NM_152564.5(VPS13B):c.3083-17G>T	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 3682080	NM_152564.5(VPS13B):c.4082C>G (p.Ser1361Cys)	VPS13B (S1361C)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3680965	NM_152564.5(VPS13B):c.6435G>A (p.Lys2145=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 3679220	NM_152564.5(VPS13B):c.6296T>A (p.Met2099Lys)	VPS13B (M2099K +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 3679082	NM_152564.5(VPS13B):c.1206+20G>C	VPS13B (C409S)	Single nucleotide variant (missense variant +2 more)	Cohen syndrome	GLikely benign
Select item 3678579	NM_152564.5(VPS13B):c.5952T>G (p.Val1984=)	VPS13B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3678365	NM_152564.5(VPS13B):c.2209-20A>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign

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