"GeneDx"[submitter] AND "LOC126805874"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 1187369	NM_001111.5(ADAR):c.2763-52C>G	ADAR, LOC126805874	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200723	NM_001111.5(ADAR):c.2763-79C>T	ADAR, LOC126805874	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183352	NM_001111.5(ADAR):c.2763-112C>G	ADAR, LOC126805874	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1215289	NM_001111.5(ADAR):c.2763-213G>A	ADAR, LOC126805874	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200761	NM_001111.5(ADAR):c.2762+206G>A	ADAR, LOC126805874	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232134	NM_001111.5(ADAR):c.2762+184G>C	LOC126805874, ADAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174432	NM_001111.5(ADAR):c.2762+33C>T	ADAR, LOC126805874	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 257474	NM_001111.5(ADAR):c.2682G>A (p.Val894=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 419608	NM_001111.5(ADAR):c.2669-1G>C	ADAR, LOC126805874	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 292766	NM_001111.5(ADAR):c.2668+6T>C	ADAR, LOC126805874	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +2 more	GConflicting classifications of pathogenicity
Select item 817052	NM_001111.5(ADAR):c.2565_2568del (p.Asn857fs)	ADAR, LOC126805874 (N831fs +5 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2151898	NM_001111.5(ADAR):c.2563_2564del (p.Leu855fs)	ADAR, LOC126805874 (L534fs +5 more)	Microsatellite (frameshift variant)	Aicardi-Goutieres syndrome 6 +2 more	GConflicting classifications of pathogenicity
Select item 285022	NM_001111.5(ADAR):c.2553C>T (p.Cys851=)	ADAR, LOC126805874	Single nucleotide variant (synonymous variant)	ADAR-related condition +4 more	GBenign/Likely benign