"PTH2R-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2651854	NM_005048.4(PTH2R):c.75+5G>A	PTH2R	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3039028	NM_005048.4(PTH2R):c.75+8C>G	PTH2R	Single nucleotide variant (intron variant)	PTH2R-related condition	GLikely benign
Select item 3056501	NM_005048.4(PTH2R):c.245C>A (p.Ser82Ter)	PTH2R (S82*)	Single nucleotide variant (5 prime UTR variant +2 more)	PTH2R-related condition	GLikely benign
Select item 3057830	NM_005048.4(PTH2R):c.272A>G (p.Tyr91Cys)	PTH2R (Y91C)	Single nucleotide variant (5 prime UTR variant +2 more)	PTH2R-related condition	GLikely benign
Select item 2633916	NM_005048.4(PTH2R):c.318T>A (p.Asn106Lys)	PTH2R (N106K)	Single nucleotide variant (5 prime UTR variant +2 more)	PTH2R-related condition	GUncertain significance
Select item 3036558	NM_005048.4(PTH2R):c.350A>C (p.Lys117Thr)	PTH2R (K117T +1 more)	Single nucleotide variant (missense variant +1 more)	PTH2R-related condition	GUncertain significance
Select item 2279018	NM_005048.4(PTH2R):c.553G>A (p.Val185Met)	PTH2R (V185M +1 more)	Single nucleotide variant (missense variant +1 more)	PTH2R-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3043082	NM_005048.4(PTH2R):c.924A>G (p.Glu308=)	PTH2R	Single nucleotide variant (synonymous variant +1 more)	PTH2R-related condition	GBenign
Select item 3039503	NM_005048.4(PTH2R):c.1008G>A (p.Thr336=)	PTH2R	Single nucleotide variant (synonymous variant +2 more)	PTH2R-related condition	GLikely benign
Select item 3056493	NM_005048.4(PTH2R):c.1140A>G (p.Val380=)	PTH2R	Single nucleotide variant (synonymous variant +2 more)	PTH2R-related condition	GBenign
Select item 2287993	NM_005048.4(PTH2R):c.1531G>A (p.Glu511Lys)	PTH2R (E308K +2 more)	Single nucleotide variant (missense variant +1 more)	PTH2R-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3051563	NM_005048.4(PTH2R):c.1540A>G (p.Lys514Glu)	PTH2R (K311E +2 more)	Single nucleotide variant (missense variant +1 more)	PTH2R-related condition	GLikely benign