"PreventionGenetics, part of Exact Sciences"[submitter] AND "CDC42BPB" - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3050976	NM_006035.4(CDC42BPB):c.5103C>T (p.Leu1701=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign
Select item 3035941	NM_006035.4(CDC42BPB):c.5101C>T (p.Leu1701Phe)	CDC42BPB (L1675F +1 more)	Single nucleotide variant (missense variant)	CDC42BPB-related disorder	GUncertain significance
Select item 3031778	NM_006035.4(CDC42BPB):c.5040G>A (p.Ser1680=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign
Select item 3024759	NM_006035.4(CDC42BPB):c.4723G>C (p.Asp1575His)	CDC42BPB (D1549H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 779741	NM_006035.4(CDC42BPB):c.4707G>A (p.Arg1569=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder +1 more	GBenign
Select item 3046295	NM_006035.4(CDC42BPB):c.4620C>T (p.Ser1540=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign
Select item 3049885	NM_006035.4(CDC42BPB):c.4591+9T>G	CDC42BPB	Single nucleotide variant (intron variant)	CDC42BPB-related disorder	GLikely benign
Select item 2629830	NM_006035.4(CDC42BPB):c.4353A>G (p.Gln1451=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GUncertain significance
Select item 3048064	NM_006035.4(CDC42BPB):c.4231C>T (p.Pro1411Ser)	CDC42BPB (P1385S +1 more)	Single nucleotide variant (missense variant)	CDC42BPB-related disorder	GBenign
Select item 2632621	NM_006035.4(CDC42BPB):c.4073A>G (p.Gln1358Arg)	CDC42BPB (Q1332R +1 more)	Single nucleotide variant (missense variant)	CDC42BPB-related disorder	GUncertain significance
Select item 3060624	NM_006035.4(CDC42BPB):c.4041C>T (p.Ala1347=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GBenign
Select item 3058424	NM_006035.4(CDC42BPB):c.3998C>T (p.Thr1333Met)	CDC42BPB (T1307M +1 more)	Single nucleotide variant (missense variant)	CDC42BPB-related disorder	GLikely benign
Select item 3049207	NM_006035.4(CDC42BPB):c.3921G>A (p.Pro1307=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign
Select item 3050436	NM_006035.4(CDC42BPB):c.3918T>C (p.Tyr1306=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign
Select item 1304746	NM_006035.4(CDC42BPB):c.3449+6C>T	CDC42BPB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 786257	NM_006035.4(CDC42BPB):c.3273G>A (p.Gln1091=)	CDC42BPB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3035870	NM_006035.4(CDC42BPB):c.3229A>G (p.Ile1077Val)	CDC42BPB (I1051V +1 more)	Single nucleotide variant (missense variant)	CDC42BPB-related disorder	GBenign
Select item 3057416	NM_006035.4(CDC42BPB):c.2949G>A (p.Ala983=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign
Select item 3051803	NM_006035.4(CDC42BPB):c.2948C>T (p.Ala983Val)	CDC42BPB (A983V)	Single nucleotide variant (missense variant)	CDC42BPB-related disorder	GLikely benign
Select item 3059038	NM_006035.4(CDC42BPB):c.2799A>G (p.Glu933=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GBenign
Select item 3049090	NM_006035.4(CDC42BPB):c.2711A>G (p.Asn904Ser)	CDC42BPB (N904S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3042102	NM_006035.4(CDC42BPB):c.2538C>T (p.Leu846=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign
Select item 3031694	NM_006035.4(CDC42BPB):c.2471+10C>T	CDC42BPB	Single nucleotide variant (intron variant)	CDC42BPB-related disorder	GLikely benign
Select item 3029860	NM_006035.4(CDC42BPB):c.2328A>G (p.Leu776=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign
Select item 3053429	NM_006035.4(CDC42BPB):c.2202G>A (p.Leu734=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign
Select item 769867	NM_006035.4(CDC42BPB):c.2064C>T (p.Ser688=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder +1 more	GBenign
Select item 3046788	NM_006035.4(CDC42BPB):c.1996-3C>T	CDC42BPB	Single nucleotide variant (intron variant)	CDC42BPB-related disorder	GLikely benign
Select item 3028980	NM_006035.4(CDC42BPB):c.1950C>T (p.Ser650=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign
Select item 722986	NM_006035.4(CDC42BPB):c.1785C>G (p.Ser595=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder +1 more	GLikely benign
Select item 3045949	NM_006035.4(CDC42BPB):c.1664G>A (p.Arg555Gln)	CDC42BPB (R555Q)	Single nucleotide variant (missense variant)	CDC42BPB-related disorder	GLikely benign
Select item 3031492	NM_006035.4(CDC42BPB):c.1607G>A (p.Arg536His)	CDC42BPB (R536H)	Single nucleotide variant (missense variant)	CDC42BPB-related disorder	GUncertain significance
Select item 3049015	NM_006035.4(CDC42BPB):c.1521C>T (p.Leu507=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign
Select item 2570892	NM_006035.4(CDC42BPB):c.1482C>T (p.Ile494=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder +1 more	GLikely benign
Select item 789066	NM_006035.4(CDC42BPB):c.993T>C (p.Asn331=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder +1 more	GBenign
Select item 782136	NM_006035.4(CDC42BPB):c.958C>T (p.Leu320=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder +1 more	GBenign/Likely benign
Select item 3034114	NM_006035.4(CDC42BPB):c.750G>A (p.Ala250=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign
Select item 773282	NM_006035.4(CDC42BPB):c.450C>T (p.Tyr150=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder +1 more	GBenign
Select item 3039639	NM_006035.4(CDC42BPB):c.435C>T (p.Asp145=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign

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Items: 38