"GeneDx"[submitter] AND "DAD1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 1258457	NM_001344.4(DAD1):c.*44+278del	DAD1	Deletion (intron variant)	not provided	GBenign
Select item 1258897	NM_001344.4(DAD1):c.*44+266A>G	DAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262886	NM_001344.4(DAD1):c.*44+172T>C	DAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290412	NM_001344.4(DAD1):c.*44+72A>T	DAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246525	NM_001344.4(DAD1):c.341G>A (p.Ter114=)	DAD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1235041	NM_001344.4(DAD1):c.212-128T>C	DAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266796	NM_001344.4(DAD1):c.212-210T>C	DAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246596	NM_001344.4(DAD1):c.212-308del	DAD1	Deletion (intron variant)	not provided	GBenign
Select item 1265749	NM_001344.4(DAD1):c.211+186C>G	DAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic