"GeneDx"[submitter] AND "DLX3"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 9072	NM_005220.3(DLX3):c.571_574del (p.Gly191fs)	DLX3 (G191fs)	Deletion (frameshift variant)	DLX3-related disorder +1 more	GPathogenic
Select item 1287927	NM_005220.3(DLX3):c.517-60C>G	DLX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290503	NM_005220.3(DLX3):c.516+121T>C	DLX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221806	NM_005220.3(DLX3):c.516+23C>T	DLX3	Single nucleotide variant (intron variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism +2 more	GBenign
Select item 2504837	NM_005220.3(DLX3):c.499G>T (p.Gly167Cys)	DLX3 (G167C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259676	NM_005220.3(DLX3):c.402G>A (p.Thr134=)	DLX3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1297849	NM_005220.3(DLX3):c.326-184C>A	DLX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279835	NM_005220.3(DLX3):c.325+234A>G	DLX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290253	NM_005220.3(DLX3):c.325+195G>A	DLX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259675	NM_005220.3(DLX3):c.138C>T (p.Pro46=)	DLX3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 324028	NM_005220.3(DLX3):c.-64C>T	DLX3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 324032	NM_005220.3(DLX3):c.-134C>A	DLX3	Single nucleotide variant (5 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism +1 more	GBenign
Select item 324034	NM_005220.3(DLX3):c.-189G>T	DLX3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1251260	NC_000017.11:g.49995357TC[7]	DLX3	Microsatellite	not provided	GBenign
Select item 1274302	NC_000017.11:g.49995501C>T	DLX3	Single nucleotide variant	not provided	GBenign