ClinVar for OMIM (Select 616737) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359104	NM_001791.4(CDC42):c.291G>T (p.Trp97Cys)	CDC42 (W97C)	Single nucleotide variant (missense variant)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	GLikely pathogenic
Select item 3237457	NM_001791.4(CDC42):c.206C>T (p.Pro69Leu)	CDC42 (P69L)	Single nucleotide variant (missense variant)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	GUncertain significance
Select item 2672222	NM_001791.4(CDC42):c.227A>T (p.Asp76Val)	CDC42 (D76V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	GLikely pathogenic
Select item 2585294	NM_001791.4(CDC42):c.487-1465T>A	CDC42, LOC122056785 (F169L)	Single nucleotide variant (missense variant +1 more)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	GUncertain significance
Select item 1644370	NM_001791.4(CDC42):c.529C>T (p.Leu177=)	CDC42	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome +1 more	GLikely benign
Select item 1596360	NM_001791.4(CDC42):c.510C>T (p.Asp170=)	CDC42	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1013509	NM_001791.4(CDC42):c.101C>A (p.Pro34Gln)	CDC42 (P34Q)	Single nucleotide variant (missense variant)	CDC42-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 982957	NM_001791.4(CDC42):c.487-1465del	CDC42, LOC122056785 (F169fs)	Deletion (frameshift variant +1 more)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	GUncertain significance
Select item 666573	NM_001791.4(CDC42):c.137T>C (p.Ile46Thr)	CDC42 (I46T)	Single nucleotide variant (missense variant)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	GLikely pathogenic
Select item 487654	NM_001791.4(CDC42):c.511G>A (p.Glu171Lys)	CDC42 (E171K)	Single nucleotide variant (missense variant)	Noonan-like syndrome +1 more	GPathogenic
Select item 487652	NM_001791.4(CDC42):c.247T>C (p.Ser83Pro)	CDC42 (S83P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 450370	NM_001791.4(CDC42):c.203G>A (p.Arg68Gln)	CDC42 (R68Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 432071	NM_001791.4(CDC42):c.242G>T (p.Cys81Phe)	CDC42 (C81F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 422537	NM_001791.4(CDC42):c.62T>C (p.Ile21Thr)	CDC42 (I21T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 218950	NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys)	CDC42 (Y64C)	Single nucleotide variant (missense variant)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome +2 more	GPathogenic/Likely pathogenic
Select item 208731	NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys)	CDC42 (Y23C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 208668	NM_001791.4(CDC42):c.196A>G (p.Arg66Gly)	CDC42 (R66G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic