"Ambry Genetics"[submitter] AND "GRK6"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2209104	NM_001004106.3(GRK6):c.236G>A (p.Arg79His)	GRK6 (R79H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372166	NM_001004106.3(GRK6):c.368G>A (p.Arg123Gln)	GRK6 (R123Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600625	NM_001004106.3(GRK6):c.380C>T (p.Thr127Met)	GRK6 (T127M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241229	NM_001004106.3(GRK6):c.451G>A (p.Glu151Lys)	GRK6 (E151K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246751	NM_001004106.3(GRK6):c.487G>C (p.Asp163His)	GRK6 (D163H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467945	NM_001004106.3(GRK6):c.505C>T (p.Arg169Cys)	GRK6 (R169C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360560	NM_001004106.3(GRK6):c.1094G>C (p.Ser365Thr)	GRK6 (S365T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206787	NM_001004106.3(GRK6):c.1469A>T (p.Glu490Val)	GRK6, PRR7-AS1 (E280V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272053	NM_001004106.3(GRK6):c.1535A>G (p.Gln512Arg)	PRR7-AS1, GRK6 (Q302R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549815	NM_001004106.3(GRK6):c.1673G>A (p.Arg558His)	GRK6, PRR7-AS1 (R348H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338283	NM_001004106.3(GRK6):c.1704C>T (p.Ser568=)	GRK6, PRR7-AS1 (A569V)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2600793	NM_001004106.3(GRK6):c.1705G>A (p.Glu569Lys)	GRK6, PRR7-AS1 (E359K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2379018	NM_001004106.3(GRK6):c.*33G>A	GRK6, PRR7-AS1 (R589Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance