C0265223[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su -

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 370440	NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)	VPS13B (R146*)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome +1 more	GPathogenic/Likely pathogenic
Select item 910231	NM_152564.5(VPS13B):c.897C>G (p.Asp299Glu)	VPS13B (D299E)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 971373	NM_152564.5(VPS13B):c.921G>A (p.Met307Ile)	VPS13B (M307I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 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)	Cohen syndrome +3 more	GConflicting classifications of pathogenicity
Select item 971429	NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met)	VPS13B (T398M)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GConflicting classifications of pathogenicity
Select item 288755	NM_152564.5(VPS13B):c.1529G>A (p.Arg510His)	VPS13B (R510H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 95834	NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)	VPS13B (G567E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 194256	NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)	VPS13B (A590T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 95835	NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)	VPS13B (R611K)	Single nucleotide variant (missense variant)	Cohen syndrome +3 more	GConflicting classifications of pathogenicity
Select item 361044	NM_152564.5(VPS13B):c.1954A>C (p.Ile652Leu)	VPS13B (I652L)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 194548	NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp)	VPS13B (R686W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 909190	NM_152564.5(VPS13B):c.2234C>T (p.Thr745Met)	VPS13B (T745M)	Single nucleotide variant (missense variant)	Cohen syndrome +1 more	GUncertain significance
Select item 960142	NM_152564.5(VPS13B):c.2248A>G (p.Ser750Gly)	VPS13B (S750G)	Single nucleotide variant (missense variant)	Cohen syndrome +1 more	GUncertain significance
Select item 859924	NM_152564.5(VPS13B):c.2323C>G (p.Pro775Ala)	VPS13B (P775A)	Single nucleotide variant (missense variant)	Cohen syndrome +1 more	GUncertain significance
Select item 290694	NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe)	VPS13B (S824F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 194773	NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr)	VPS13B (A825T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 459246	NM_152564.5(VPS13B):c.2785A>G (p.Ile929Val)	VPS13B (I929V)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 565313	NM_152564.5(VPS13B):c.2880A>T (p.Leu960Phe)	VPS13B (L960F)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 588603	NM_152564.5(VPS13B):c.2917A>G (p.Ser973Gly)	VPS13B (S973G)	Single nucleotide variant (missense variant)	Cohen syndrome +1 more	GUncertain significance
Select item 566147	NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter)	VPS13B (Q978*)	Single nucleotide variant (nonsense)	Cohen syndrome	GPathogenic
Select item 437255	NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly)	VPS13B (A1006G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1011567	NM_152564.5(VPS13B):c.3031T>C (p.Tyr1011His)	VPS13B (Y1011H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 585718	NM_152564.5(VPS13B):c.3083-1G>A	VPS13B	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 95845	NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)	VPS13B (K1129R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 56658	NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)	VPS13B (R1143*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 195900	NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)	VPS13B (T1271S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 559917	NM_152564.5(VPS13B):c.3870+1G>T	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GLikely pathogenic
Select item 1433724	NM_152564.5(VPS13B):c.3901C>T (p.Pro1301Ser)	VPS13B (P1301S)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 847860	NM_017890.5(VPS13B):c.4280G>A (p.Cys1427Tyr)	VPS13B (C1427Y)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 95854	NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg)	VPS13B (H1421R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2822	NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)	VPS13B (E1491* +1 more)	Single nucleotide variant (nonsense)	Cohen syndrome	GPathogenic
Select item 1408166	NM_152564.5(VPS13B):c.4829A>G (p.Asn1610Ser)	VPS13B (N1610S +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 908480	NM_152564.5(VPS13B):c.4848G>C (p.Trp1616Cys)	VPS13B (W1616C +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 1405172	NM_152564.5(VPS13B):c.4888G>T (p.Val1630Leu)	VPS13B (V1655L +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 845268	NM_152564.5(VPS13B):c.5244dup (p.Val1749fs)	VPS13B (V1749fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 196918	NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)	VPS13B (T1869M +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 212578	NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=)	VPS13B	Single nucleotide variant (synonymous variant)	Cohen syndrome +3 more	GConflicting classifications of pathogenicity
Select item 130727	NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala)	VPS13B (S1935A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 953886	NM_152564.5(VPS13B):c.6311C>T (p.Ser2104Phe)	VPS13B (S2129F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 196985	NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)	VPS13B (N2139S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 56683	NM_152564.5(VPS13B):c.6657+1G>A	VPS13B	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 279780	NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)	VPS13B (E2268* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 644958	NM_152564.5(VPS13B):c.6865+1G>T	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GPathogenic
Select item 56685	NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys)	VPS13B (Y2341C +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 1442234	NM_152564.5(VPS13B):c.7136G>T (p.Cys2379Phe)	VPS13B (C2379F +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 1020924	NM_152564.5(VPS13B):c.7207A>G (p.Ile2403Val)	VPS13B (I2403V +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 583375	NM_152564.5(VPS13B):c.7247+2T>C	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GPathogenic/Likely pathogenic
Select item 197472	NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)	VPS13B (S2571F +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1411811	NM_152564.5(VPS13B):c.7979G>A (p.Arg2660His)	VPS13B (R2660H +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome +1 more	GUncertain significance
Select item 1430573	NM_152564.5(VPS13B):c.8040G>C (p.Arg2680Ser)	VPS13B (R2705S +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome +1 more	GUncertain significance
Select item 56691	NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)	VPS13B (R2707* +1 more)	Single nucleotide variant (nonsense)	Cohen syndrome	GPathogenic/Likely pathogenic
Select item 911575	NM_152564.5(VPS13B):c.8059A>G (p.Ile2687Val)	VPS13B (I2712V +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 1336903	NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val)	VPS13B (I2816V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 95872	NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)	VPS13B (P2857L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197914	NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala)	VPS13B (E3044A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 568634	NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr)	VPS13B (M3167T +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome +2 more	GUncertain significance
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 95876	NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)	VPS13B (R3198W)	Single nucleotide variant (missense variant)	Cohen syndrome +3 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)	VPS13B-related disorder +2 more	GUncertain significance
Select item 1426784	NM_152564.5(VPS13B):c.9742+2dup	VPS13B	Duplication (splice donor variant)	Cohen syndrome	GUncertain significance
Select item 56629	NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)	VPS13B (T3386fs +1 more)	Duplication (frameshift variant)	Cohen syndrome +1 more	GPathogenic/Likely pathogenic
Select item 95823	NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys)	VPS13B (Y3523C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 167836	NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg)	VPS13B (G3538R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1449307	NM_152564.5(VPS13B):c.10699C>A (p.Pro3567Thr)	VPS13B (P3567T +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome	GUncertain significance
Select item 721319	NM_152564.5(VPS13B):c.10868-7G>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 56632	NM_152564.5(VPS13B):c.11050del (p.Leu3684fs)	VPS13B (L3709fs +1 more)	Deletion (frameshift variant)	Cohen syndrome	GPathogenic
Select item 361095	NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln)	VPS13B (R3696Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 657513	NM_152564.5(VPS13B):c.11170G>A (p.Glu3724Lys)	VPS13B (E3724K +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome +1 more	GUncertain significance
Select item 1327842	NM_152564.5(VPS13B):c.11434C>T (p.Arg3812Cys)	VPS13B (R3812C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 371090	NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)	VPS13B (R3840fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 189182	NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)	VPS13B (T3902fs +1 more)	Indel (frameshift variant)	Cohen syndrome +1 more	GPathogenic/Likely pathogenic
Select item 555840	NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter)	VPS13B (A3991* +1 more)	Duplication (nonsense)	VPS13B-related disorder +2 more	GUncertain significance

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Items: 72