"GeneDx"[submitter] AND "DLG3-AS1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 1225363	NM_021120.4(DLG3):c.1146-23C>T	DLG3, DLG3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309082	NM_021120.4(DLG3):c.1146-3C>A	DLG3, DLG3-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1803637	NM_021120.4(DLG3):c.1213G>T (p.Asp405Tyr)	DLG3, DLG3-AS1 (D405Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571773	NM_021120.4(DLG3):c.1291C>T (p.Arg431Trp)	DLG3, DLG3-AS1 (R431W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504038	NM_021120.4(DLG3):c.1302G>A (p.Ser434=)	DLG3, DLG3-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1257232	NM_021120.4(DLG3):c.1302+168T>C	DLG3, DLG3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265795	NM_021120.4(DLG3):c.1303-162T>G	DLG3, DLG3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 210850	NM_021120.4(DLG3):c.1405+5_1405+7del	DLG3, DLG3-AS1	Deletion (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 420228	NM_021120.4(DLG3):c.1405+5G>C	DLG3-AS1, DLG3	Single nucleotide variant (intron variant)	not provided	GUncertain significance