"GeneDx"[submitter] AND "RAP1A"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 1222916	NM_002884.4(RAP1A):c.-27-215T>C	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248083	NM_002884.4(RAP1A):c.-27-158G>A	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249165	NM_002884.4(RAP1A):c.57+29T>A	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230259	NM_002884.4(RAP1A):c.57+45G>T	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239631	NM_002884.4(RAP1A):c.57+176C>T	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240525	NM_002884.4(RAP1A):c.58-130_58-129insATATTA	RAP1A	Insertion (intron variant)	not provided	GBenign
Select item 1246461	NM_002884.4(RAP1A):c.58-48A>T	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222741	NM_002884.4(RAP1A):c.126+185A>G	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222792	NM_002884.4(RAP1A):c.127-212C>T	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253450	NM_002884.4(RAP1A):c.127-11dup	RAP1A	Duplication (intron variant)	not provided	GBenign
Select item 1182895	NM_002884.4(RAP1A):c.325-179dup	RAP1A	Duplication (intron variant)	not provided	GBenign
Select item 1288197	NM_002884.4(RAP1A):c.325-179del	RAP1A	Deletion (intron variant)	not provided	GBenign
Select item 1240502	NM_002884.4(RAP1A):c.*29+16C>T	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259730	NM_002884.4(RAP1A):c.*29+97C>G	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271656	NM_002884.4(RAP1A):c.*29+226dup	RAP1A	Duplication (intron variant)	not provided	GBenign