"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1147581	NM_152564.5(VPS13B):c.581-10T>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 361038	NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser)	VPS13B (T195S)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome +3 more	GUncertain significance
Select item 198886	NM_152564.5(VPS13B):c.983A>G (p.His328Arg)	VPS13B (H328R)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 198887	NM_152564.5(VPS13B):c.1041A>G (p.Ser347=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome +2 more	GConflicting classifications of pathogenicity
Select item 262657	NM_152564.5(VPS13B):c.1206+33T>G	VPS13B (Y413*)	Single nucleotide variant (nonsense +2 more)	not specified +1 more	GBenign
Select item 130722	NM_152564.5(VPS13B):c.1293T>G (p.Thr431=)	VPS13B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 754811	NM_152564.5(VPS13B):c.1303-9G>A	VPS13B	Single nucleotide variant (intron variant)	VPS13B-related condition +1 more	GLikely benign
Select item 1206181	NM_152564.5(VPS13B):c.1552A>T (p.Thr518Ser)	VPS13B (T518S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 194256	NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)	VPS13B (A590T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 95835	NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)	VPS13B (R611K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 430204	NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val)	VPS13B (I786V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 290694	NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe)	VPS13B (S824F)	Single nucleotide variant (missense variant)	VPS13B-related condition +4 more	GUncertain significance
Select item 528854	NM_152564.5(VPS13B):c.2472C>T (p.Ser824=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome +2 more	GLikely benign
Select item 95839	NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr)	VPS13B (A829T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 361049	NM_152564.5(VPS13B):c.2760A>G (p.Leu920=)	VPS13B	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 361052	NM_152564.5(VPS13B):c.2934+14A>T	VPS13B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 212573	NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)	VPS13B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 95845	NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)	VPS13B (K1129R)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 195833	NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome +4 more	GConflicting classifications of pathogenicity
Select item 95848	NM_152564.5(VPS13B):c.3667-7C>T	VPS13B	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 195900	NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)	VPS13B (T1271S)	Single nucleotide variant (missense variant)	Cohen syndrome +3 more	GConflicting classifications of pathogenicity
Select item 95851	NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)	VPS13B (T1289S)	Single nucleotide variant (missense variant)	Cohen syndrome +2 more	GConflicting classifications of pathogenicity
Select item 286663	NM_152564.5(VPS13B):c.4225-6G>A	VPS13B	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 522192	NM_152564.5(VPS13B):c.4746-14C>T	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GBenign/Likely benign
Select item 196918	NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)	VPS13B (T1869M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 212578	NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=)	VPS13B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 196920	NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala)	VPS13B (T1921A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 95863	NM_152564.5(VPS13B):c.6963A>G (p.Val2321=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome +3 more	GBenign
Select item 95864	NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=)	VPS13B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 281753	NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=)	VPS13B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 95866	NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala)	VPS13B (V2559A)	Single nucleotide variant (missense variant)	Cohen syndrome +3 more	GBenign/Likely benign
Select item 197472	NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)	VPS13B (S2571F +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1297677	NM_152564.5(VPS13B):c.7724A>T (p.Asn2575Ile)	VPS13B (N2575I +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 197529	NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys)	VPS13B (Y2724C +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome +3 more	GBenign/Likely benign
Select item 95872	NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)	VPS13B (P2857L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 130729	NM_152564.5(VPS13B):c.9330+9A>G	VPS13B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 130728	NM_152564.5(VPS13B):c.9330+10T>A	VPS13B	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 95874	NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly)	VPS13B (S3117G)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 95875	NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)	VPS13B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 262652	NM_152564.5(VPS13B):c.10061+24G>A	VPS13B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 459245	NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=)	VPS13B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 95821	NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg)	VPS13B (G3407R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 95823	NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys)	VPS13B (Y3523C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 262653	NM_152564.5(VPS13B):c.10824C>T (p.His3608=)	VPS13B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 95825	NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome +3 more	GConflicting classifications of pathogenicity
Select item 361094	NM_152564.5(VPS13B):c.11044+13G>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GBenign
Select item 95826	NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)	VPS13B (A3691T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 705665	NM_152564.5(VPS13B):c.11392+8G>A	VPS13B	Single nucleotide variant (intron variant)	VPS13B-related condition +1 more	GBenign
Select item 95828	NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)	VPS13B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1149431	NM_152564.5(VPS13B):c.11667C>T (p.Ile3889=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 1128453	NM_152564.5(VPS13B):c.11715C>A (p.Leu3905=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome	GLikely benign
Select item 283776	NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala)	VPS13B (P3987A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 555840	NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter)	VPS13B (A3991* +1 more)	Duplication (nonsense)	not specified +2 more	GUncertain significance

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Items: 53