"GeneDx"[submitter] AND "GRK1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 57709	GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 57710	GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 58283	GRCh38/hg38 13q34(chr13:113328389-113671476)x3	ADPRHL1, ATP4B +17 more	Copy number gain	See cases	GUncertain significance
Select item 1243596	NC_000013.11:g.113667152G>A	GRK1	Single nucleotide variant	not provided	GBenign
Select item 1288366	NM_002929.3(GRK1):c.700-113C>T	GRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253118	NM_002929.3(GRK1):c.700-5T>C	GRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245710	NM_002929.3(GRK1):c.986-13A>G	GRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 13010	NM_002929.3(GRK1):c.1139T>A (p.Val380Asp)	GRK1 (V380D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3342851	NM_002929.3(GRK1):c.1194+1G>A	GRK1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1281729	NM_002929.3(GRK1):c.1195-50A>G	GRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252362	NM_002929.3(GRK1):c.1397-44C>G	GRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3342407	NM_002929.3(GRK1):c.1627G>A (p.Asp543Asn)	GRK1 (D543N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance