"GeneDx"[submitter] AND "LOC109461476"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 152501	GRCh38/hg38 20q11.22(chr20:35051855-35438457)x1	EDEM2, EIF6 +29 more	Copy number loss	See cases	GLikely pathogenic
Select item 256712	NM_000557.5(GDF5):c.-48=	GDF5, LOC109461476	Single nucleotide variant (no sequence alteration)	Grebe syndrome +6 more	GBenign
Select item 338326	NM_000557.5(GDF5):c.-135G>A	GDF5, LOC109461476	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GBenign/Likely benign
Select item 8390	NM_000557.5(GDF5):c.-275=	GDF5, LOC109461476	Single nucleotide variant (no sequence alteration +1 more)	Brachydactyly +5 more	GBenign
Select item 1281726	NM_000557.1(GDF5):c.173_174GT[19]	GDF5, LOC109461476	Microsatellite (intron variant)	not provided	GBenign
Select item 1268421	NM_000557.1(GDF5):c.173_174GT[20]	GDF5, LOC109461476	Microsatellite (intron variant)	not provided	GBenign
Select item 1241459	NM_000557.1(GDF5):c.173_174GT[17]	GDF5, LOC109461476	Microsatellite (intron variant)	not provided	GBenign
Select item 1231359	NM_000557.1(GDF5):c.173_174GT[21]	GDF5, LOC109461476	Microsatellite (intron variant)	not provided	GBenign
Select item 1280763	NM_000557.1(GDF5):c.173_205del33insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GDF5, LOC109461476	Deletion (intron variant)	not provided	GBenign
Select item 1267133	NM_000557.1(GDF5):c.173_174GT[15]	GDF5, LOC109461476	Microsatellite (intron variant)	not provided	GBenign
Select item 1255147	NM_000557.1(GDF5):c.63T>G	GDF5, LOC109461476	Single nucleotide variant (intron variant)	not provided	GBenign