C0265223[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 437233	NM_152564.5(VPS13B):c.162A>G (p.Pro54=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 212575	NM_152564.5(VPS13B):c.358A>G (p.Ile120Val)	VPS13B (I120V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 361036	NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu)	VPS13B (P122L)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome +3 more	GConflicting classifications of pathogenicity
Select item 437253	NM_152564.5(VPS13B):c.560G>A (p.Arg187His)	VPS13B (R187H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
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 1036891	NM_152564.5(VPS13B):c.604G>T (p.Val202Phe)	VPS13B (V202F)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 212581	NM_152564.5(VPS13B):c.723A>C (p.Thr241=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 437234	NM_152564.5(VPS13B):c.1000T>C (p.Tyr334His)	VPS13B (Y334H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 95831	NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)	VPS13B (Q416H)	Single nucleotide variant (missense variant)	Cohen syndrome +4 more	GConflicting classifications of pathogenicity
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 437235	NM_152564.5(VPS13B):c.1425+9G>A	VPS13B	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 193907	NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome +4 more	GConflicting classifications of pathogenicity
Select item 95832	NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)	VPS13B (T488M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 288755	NM_152564.5(VPS13B):c.1529G>A (p.Arg510His)	VPS13B (R510H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 212572	NM_152564.5(VPS13B):c.1569A>G (p.Thr523=)	VPS13B	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 374535	NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala)	VPS13B (T547A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 95834	NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)	VPS13B (G567E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 437237	NM_152564.5(VPS13B):c.1753C>T (p.Arg585Cys)	VPS13B (R585C)	Single nucleotide variant (missense variant)	Cohen syndrome +2 more	GUncertain significance
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 95836	NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala)	VPS13B (T622A)	Single nucleotide variant (missense variant)	Cohen syndrome +4 more	GUncertain significance
Select item 56650	NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)	VPS13B (R692*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 194549	NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln)	VPS13B (R692Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 960142	NM_152564.5(VPS13B):c.2248A>G (p.Ser750Gly)	VPS13B (S750G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 95838	NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu)	VPS13B (V759L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
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 194773	NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr)	VPS13B (A825T)	Single nucleotide variant (missense variant)	Cohen syndrome +4 more	GUncertain significance
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 235550	NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile)	VPS13B (V866I)	Single nucleotide variant (missense variant)	VPS13B-related condition +4 more	GConflicting classifications of pathogenicity
Select item 288192	NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn)	VPS13B (K881N)	Single nucleotide variant (missense variant)	VPS13B-related condition +3 more	GConflicting classifications of pathogenicity
Select item 361047	NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu)	VPS13B (K902E)	Single nucleotide variant (missense variant)	Cohen syndrome +4 more	GConflicting classifications of pathogenicity
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 437255	NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly)	VPS13B (A1006G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 528860	NM_152564.5(VPS13B):c.3116T>C (p.Met1039Thr)	VPS13B (M1039T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 95844	NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile)	VPS13B (T1068I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1103332	NM_152564.5(VPS13B):c.3333G>A (p.Pro1111=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome +1 more	GLikely benign
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 287997	NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys)	VPS13B (S1219C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 444761	NM_152564.5(VPS13B):c.3662C>A (p.Pro1221His)	VPS13B (P1221H)	Single nucleotide variant (missense variant)	Cohen syndrome +2 more	GUncertain significance
Select item 95848	NM_152564.5(VPS13B):c.3667-7C>T	VPS13B	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 130723	NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=)	VPS13B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 130724	NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=)	VPS13B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 130725	NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln)	VPS13B (R1416Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 95854	NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg)	VPS13B (H1421R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 437256	NM_152564.5(VPS13B):c.4874G>T (p.Ser1625Ile)	VPS13B (S1625I +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome +1 more	GUncertain significance
Select item 130726	NM_152564.5(VPS13B):c.5285G>A (p.Arg1762His)	VPS13B (R1762H +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome +2 more	GUncertain significance
Select item 212576	NM_152564.5(VPS13B):c.5377C>T (p.Arg1793Cys)	VPS13B (R1793C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 196919	NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His)	VPS13B (R1799H +1 more)	Single nucleotide variant (missense variant)	VPS13B-related condition +3 more	GUncertain significance
Select item 934566	NM_152564.5(VPS13B):c.5489C>G (p.Ala1830Gly)	VPS13B (A1830G +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 212577	NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=)	VPS13B	Single nucleotide variant (synonymous variant)	not provided +3 more	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 361068	NM_152564.5(VPS13B):c.5663T>C (p.Ile1888Thr)	VPS13B (I1913T +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome +2 more	GUncertain significance
Select item 130727	NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala)	VPS13B (S1935A +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 528838	NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu)	VPS13B (V1962L +1 more)	Single nucleotide variant (missense variant)	VPS13B-related condition +3 more	GConflicting classifications of pathogenicity
Select item 95858	NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val)	VPS13B (I1969V)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +5 more	GBenign/Likely benign
Select item 437257	NM_152564.5(VPS13B):c.6009del (p.Phe2003fs)	VPS13B (F2003fs)	Deletion (frameshift variant)	Cohen syndrome	GPathogenic
Select item 196985	NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)	VPS13B (N2139S +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome +4 more	GConflicting classifications of pathogenicity
Select item 95862	NM_152564.5(VPS13B):c.6631A>C (p.Ile2211Leu)	VPS13B (I2211L)	Single nucleotide variant (missense variant)	Cohen syndrome +3 more	GUncertain significance
Select item 56683	NM_152564.5(VPS13B):c.6657+1G>A	VPS13B	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 1010146	NM_152564.5(VPS13B):c.6658-3A>T	VPS13B	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 970986	NM_152564.5(VPS13B):c.6752T>C (p.Val2251Ala)	VPS13B (V2251A +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome +2 more	GConflicting classifications of pathogenicity
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 437259	NM_152564.5(VPS13B):c.7099del (p.Ala2367fs)	VPS13B (A2367fs +1 more)	Deletion (frameshift variant)	Cohen syndrome	GPathogenic
Select item 212580	NM_152564.5(VPS13B):c.7151C>T (p.Pro2384Leu)	VPS13B (P2384L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 437239	NM_152564.5(VPS13B):c.7247+9T>C	VPS13B	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1158055	NM_152564.5(VPS13B):c.7266T>C (p.Gly2422=)	VPS13B	Single nucleotide variant (synonymous variant)	VPS13B-related condition +2 more	GLikely benign
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 95867	NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)	VPS13B (E2560K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 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 437240	NM_152564.5(VPS13B):c.7998T>C (p.Ser2666=)	VPS13B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
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 1336903	NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val)	VPS13B (I2816V +1 more)	Single nucleotide variant (missense variant)	VPS13B-related condition +3 more	GUncertain significance
Select item 212582	NM_152564.5(VPS13B):c.8497A>G (p.Ile2833Val)	VPS13B (I2833V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 437242	NM_152564.5(VPS13B):c.8661A>G (p.Ser2887=)	VPS13B	Single nucleotide variant (synonymous variant)	VPS13B-related condition +3 more	GBenign/Likely benign
Select item 1338320	NM_152564.5(VPS13B):c.8728G>A (p.Glu2910Lys)	VPS13B (E2910K +1 more)	Single nucleotide variant (missense variant)	VPS13B-related condition +2 more	GUncertain significance
Select item 212583	NM_152564.5(VPS13B):c.8739G>T (p.Gly2913=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome +1 more	GConflicting classifications of pathogenicity
Select item 654915	NM_152564.5(VPS13B):c.8750C>T (p.Ser2917Leu)	VPS13B (S2917L +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome +4 more	GUncertain significance
Select item 285278	NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=)	VPS13B	Single nucleotide variant (synonymous variant)	VPS13B-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2821	NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)	VPS13B (N2968S)	Single nucleotide variant (missense variant)	Cohen syndrome +3 more	GConflicting classifications of pathogenicity
Select item 212584	NM_152564.5(VPS13B):c.8915G>A (p.Trp2972Ter)	VPS13B (W2972* +1 more)	Single nucleotide variant (nonsense)	Cohen syndrome	GPathogenic
Select item 95873	NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)	VPS13B (D3032Y)	Single nucleotide variant (missense variant)	Cohen syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1141986	NM_152564.5(VPS13B):c.9300A>G (p.Leu3100=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome +1 more	GLikely benign
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 167833	NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro)	VPS13B (L3177P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 197938	NM_152564.5(VPS13B):c.9551A>G (p.Glu3184Gly)	VPS13B (E3184G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 95876	NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)	VPS13B (R3198W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 212585	NM_152564.5(VPS13B):c.9593G>A (p.Arg3198Gln)	VPS13B (R3198Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 197953	NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=)	VPS13B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 361084	NM_152564.5(VPS13B):c.9784G>A (p.Glu3262Lys)	VPS13B (E3262K +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome +2 more	GUncertain significance
Select item 130716	NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile)	VPS13B (V3315I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign

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