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

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 1250464	NC_000010.11:g.74151197G>C	ADK	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1250012	NM_006721.4(ADK):c.65+175C>A	ADK, LOC130004112	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 300835	NM_006721.4(ADK):c.66-23911C>T	ADK	Single nucleotide variant (5 prime UTR variant +1 more)	Adenosine kinase deficiency +1 more	GBenign
Select item 1249834	NM_006721.4(ADK):c.66-76A>T	ADK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286611	NM_006721.4(ADK):c.447-52C>T	ADK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265449	NM_006721.4(ADK):c.555+181T>C	ADK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 300839	NM_006721.4(ADK):c.705T>C (p.Asp235=)	ADK, LOC102723439	Single nucleotide variant (synonymous variant +1 more)	Adenosine kinase deficiency +1 more	GBenign
Select item 1275730	NM_006721.4(ADK):c.726+114G>A	ADK, LOC102723439	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257921	NM_006721.4(ADK):c.763-115T>C	ADK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189011	NM_006721.4(ADK):c.878-71T>C	ADK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1229197	NM_006721.4(ADK):c.965-151dup	ADK	Duplication (intron variant)	not provided	GBenign