"Ambry Genetics"[submitter] AND "TAS2R30"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2248028	NM_001097643.2(TAS2R30):c.890T>A (p.Val297Glu)	PRH1, PRH1-PRR4 +2 more (V297E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256472	NM_001097643.2(TAS2R30):c.886C>T (p.His296Tyr)	PRH1, PRH1-PRR4 +2 more (H296Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295692	NM_001097643.2(TAS2R30):c.835C>G (p.Leu279Val)	PRH1, PRH1-PRR4 +2 more (L279V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615773	NM_001097643.2(TAS2R30):c.643G>A (p.Gly215Arg)	PRH1-TAS2R14, PRH1 +2 more (G215R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2587979	NM_001097643.2(TAS2R30):c.635A>G (p.His212Arg)	PRH1, PRH1-PRR4 +2 more (H212R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468174	NM_001097643.2(TAS2R30):c.492G>C (p.Trp164Cys)	PRH1, PRH1-PRR4 +2 more (W164C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267082	NM_001097643.2(TAS2R30):c.363A>G (p.Ile121Met)	PRH1, PRH1-PRR4 +2 more (I121M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371317	NM_001097643.2(TAS2R30):c.335A>G (p.Asn112Ser)	PRH1, PRH1-PRR4 +2 more (N112S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524206	NM_001097643.2(TAS2R30):c.312G>A (p.Met104Ile)	PRH1, PRH1-PRR4 +2 more (M104I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2519992	NM_001097643.2(TAS2R30):c.205A>G (p.Thr69Ala)	PRH1, PRH1-PRR4 +2 more (T69A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459664	NM_001097643.2(TAS2R30):c.179G>T (p.Trp60Leu)	PRH1, PRH1-PRR4 +2 more (W60L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324586	NM_001097643.2(TAS2R30):c.81A>G (p.Ile27Met)	PRH1, PRH1-PRR4 +2 more (I27M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291711	NM_001097643.2(TAS2R30):c.57T>G (p.Ile19Met)	PRH1, PRH1-PRR4 +2 more (I19M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361633	NM_001097643.2(TAS2R30):c.46A>T (p.Ile16Leu)	PRH1, TAS2R30 +2 more (I16L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205558	NM_001097643.2(TAS2R30):c.29C>T (p.Ser10Phe)	PRH1-PRR4, PRH1-TAS2R14 +2 more (S10F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance