"GeneDx"[submitter] AND "SLC2A5"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 1268127	NM_003039.3(SLC2A5):c.1175-147G>A	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246113	NM_003039.3(SLC2A5):c.1175-189G>A	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281129	NM_003039.3(SLC2A5):c.1174+159C>T	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248915	NM_003039.3(SLC2A5):c.1174+42del	SLC2A5	Deletion (intron variant)	not provided	GBenign
Select item 1256695	NM_003039.3(SLC2A5):c.1098+145C>T	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1684066	NM_003039.3(SLC2A5):c.997-250del	SLC2A5	Deletion (intron variant)	not provided	GLikely benign
Select item 1236505	NM_003039.3(SLC2A5):c.886-6T>C	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226744	NM_003039.3(SLC2A5):c.572-231C>T	SLC2A5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1230135	NM_003039.3(SLC2A5):c.294-56C>A	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260608	NM_003039.3(SLC2A5):c.293+155del	SLC2A5	Deletion (intron variant)	not provided	GBenign
Select item 1259715	NM_003039.3(SLC2A5):c.293+136T>C	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242050	NM_003039.3(SLC2A5):c.133-81A>G	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290692	NM_003039.3(SLC2A5):c.132+263G>A	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248972	NM_003039.3(SLC2A5):c.34-287G>T	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222709	NM_003039.3(SLC2A5):c.-25G>A	SLC2A5	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1261855	NM_003039.2(SLC2A5):c.-272C>T	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237506	NM_001328619.2(SLC2A5):c.-58-292T>C	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic

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Items: 21