"GeneDx"[submitter] AND "RAB23"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 357640	NM_016277.5(RAB23):c.619G>A (p.Gly207Ser)	RAB23 (G207S)	Single nucleotide variant (missense variant +1 more)	RAB23-related Carpenter syndrome +3 more	GBenign/Likely benign
Select item 1683803	NM_016277.5(RAB23):c.575-170C>G	RAB23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201159	NM_016277.5(RAB23):c.574+28G>A	RAB23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210635	NM_016277.5(RAB23):c.482-66T>A	RAB23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198355	NM_016277.5(RAB23):c.481+68_481+70del	RAB23	Microsatellite (intron variant)	not provided	GLikely benign
Select item 463375	NM_016277.5(RAB23):c.481+5A>G	RAB23	Single nucleotide variant (intron variant)	Carpenter syndrome +1 more	GLikely benign
Select item 4591	NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)	RAB23 (L145*)	Single nucleotide variant (nonsense)	RAB23-related Carpenter syndrome +3 more	GPathogenic
Select item 4592	NM_016277.5(RAB23):c.408dup (p.Glu137Ter)	RAB23 (E137*)	Duplication (nonsense)	not provided +1 more	GPathogenic
Select item 1286603	NM_016277.5(RAB23):c.399-170A>C	RAB23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 357644	NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)	RAB23 (S101A)	Single nucleotide variant (missense variant)	RAB23-related Carpenter syndrome +2 more	GConflicting classifications of pathogenicity
Select item 357645	NM_016277.5(RAB23):c.242-31ATTG[6]	RAB23	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 211976	NM_016277.5(RAB23):c.218C>T (p.Ala73Val)	RAB23 (A73V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1270612	NM_016277.5(RAB23):c.156-293A>G	RAB23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296742	NM_016277.5(RAB23):c.155+165dup	RAB23	Duplication (intron variant)	not provided	GBenign
Select item 1233514	NM_016277.5(RAB23):c.155+174del	RAB23	Deletion (intron variant)	not provided	GBenign
Select item 1257537	NM_016277.5(RAB23):c.155+113C>T	RAB23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 280858	NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)	RAB23 (R28*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 357646	NM_016277.5(RAB23):c.-23C>T	RAB23	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign