ClinVar (all) for Orgtrack (Select 507743) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 977939	NM_005630.3(SLCO2A1):c.547G>A (p.Gly183Arg)	SLCO2A1 (G183R)	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 +1 more	GPathogenic/Likely pathogenic
Select item 977938	NM_005630.3(SLCO2A1):c.830del (p.Phe277fs)	SLCO2A1 (F277fs)	Deletion (frameshift variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 977937	NM_005630.3(SLCO2A1):c.398-5T>C	SLCO2A1	Single nucleotide variant (intron variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GUncertain significance
Select item 977936	NM_005630.3(SLCO2A1):c.1524del (p.Val509fs)	SLCO2A1 (V509fs)	Deletion (frameshift variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GLikely pathogenic
Select item 977935	NM_004963.4(GUCY2C):c.1544T>C (p.Leu515Pro)	C12orf60, GUCY2C (L515P)	Single nucleotide variant (missense variant)	Congenital diarrhea 6	GUncertain significance
Select item 977934	NM_015937.6(PIGT):c.1072G>A (p.Val358Met)	PIGT (V256M +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Paroxysmal nocturnal hemoglobinuria 2	GUncertain significance

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