ClinVar for MedGen (Select 382429) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1290037	NM_005630.3(SLCO2A1):c.234+45G>C	SLCO2A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1175126	NM_005630.3(SLCO2A1):c.397+10T>C	SLCO2A1	Single nucleotide variant (intron variant)	Hypertrophic osteoarthropathy, primary, autosomal dominant +2 more	GBenign
Select item 1174124	NM_005630.3(SLCO2A1):c.1660G>A (p.Gly554Arg)	SLCO2A1 (G554R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1174121	NM_005630.3(SLCO2A1):c.302T>G (p.Ile101Ser)	SLCO2A1 (I101S)	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal dominant	GPathogenic
Select item 1174120	NM_005630.3(SLCO2A1):c.861+2T>C	SLCO2A1	Single nucleotide variant (splice donor variant)	Hypertrophic osteoarthropathy, primary, autosomal dominant +1 more	GPathogenic
Select item 438675	NM_005630.3(SLCO2A1):c.664G>A (p.Gly222Arg)	SLCO2A1 (G222R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 225477	NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter)	SLCO2A1 (R603*)	Single nucleotide variant (nonsense)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 +1 more	GPathogenic/Likely pathogenic
Select item 37171	NM_005630.3(SLCO2A1):c.310G>T (p.Gly104Ter)	SLCO2A1 (G104*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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