Related gene-specific medical variations for Gene (Select 259296) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3174125	NM_176890.2(TAS2R50):c.848C>T (p.Thr283Ile)	PRH1, PRH1-PRR4 +2 more (T283I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174124	NM_176890.2(TAS2R50):c.815T>C (p.Leu272Pro)	PRH1, PRH1-PRR4 +2 more (L272P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3174123	NM_176890.2(TAS2R50):c.368G>A (p.Arg123Lys)	PRH1, PRH1-PRR4 +2 more (R123K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544848	NM_176890.2(TAS2R50):c.776C>T (p.Pro259Leu)	PRH1, PRH1-PRR4 +2 more (P259L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543946	NM_176890.2(TAS2R50):c.647C>T (p.Ser216Leu)	PRH1, PRH1-PRR4 +2 more (S216L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493597	NM_176890.2(TAS2R50):c.340T>C (p.Ser114Pro)	PRH1, PRH1-PRR4 +2 more (S114P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463493	NM_176890.2(TAS2R50):c.556A>T (p.Ile186Leu)	PRH1, PRH1-PRR4 +2 more (I186L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402182	NM_176890.2(TAS2R50):c.785T>C (p.Met262Thr)	PRH1, PRH1-PRR4 +2 more (M262T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399371	NM_176890.2(TAS2R50):c.370A>G (p.Arg124Gly)	PRH1, PRH1-PRR4 +2 more (R124G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363851	NM_176890.2(TAS2R50):c.615T>A (p.His205Gln)	PRH1, PRH1-PRR4 +2 more (H205Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338801	NM_176890.2(TAS2R50):c.635A>G (p.His212Arg)	PRH1, PRH1-PRR4 +2 more (H212R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324361	NM_176890.2(TAS2R50):c.829T>A (p.Phe277Ile)	PRH1, PRH1-PRR4 +2 more (F277I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314351	NM_176890.2(TAS2R50):c.116A>G (p.Lys39Arg)	PRH1, PRH1-PRR4 +2 more (K39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292732	NM_176890.2(TAS2R50):c.83C>T (p.Ala28Val)	PRH1, PRH1-PRR4 +2 more (A28V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282837	NM_176890.2(TAS2R50):c.712T>C (p.Cys238Arg)	PRH1, PRH1-PRR4 +2 more (C238R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266155	NM_176890.2(TAS2R50):c.814C>A (p.Leu272Ile)	PRH1, PRH1-PRR4 +2 more (L272I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261603	NM_176890.2(TAS2R50):c.167T>C (p.Ile56Thr)	PRH1, PRH1-PRR4 +2 more (I56T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714507	NM_176890.2(TAS2R50):c.87G>C (p.Leu29=)	PRH1, PRH1-PRR4 +2 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign