ClinVar for Gene (Select 6578) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369958	NM_005630.3(SLCO2A1):c.398G>A (p.Gly133Glu)	SLCO2A1 (G133E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3320374	NM_005630.3(SLCO2A1):c.124C>G (p.Gln42Glu)	SLCO2A1 (Q42E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320373	NM_005630.3(SLCO2A1):c.613C>T (p.Pro205Ser)	SLCO2A1 (P205S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320372	NM_005630.3(SLCO2A1):c.1133T>C (p.Leu378Ser)	SLCO2A1 (L378S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320371	NM_005630.3(SLCO2A1):c.1099C>G (p.Leu367Val)	SLCO2A1 (L367V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320370	NM_005630.3(SLCO2A1):c.389C>T (p.Ala130Val)	SLCO2A1 (A130V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320367	NM_005630.3(SLCO2A1):c.1381G>C (p.Asp461His)	LOC123038185, SLCO2A1 (D461H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256420	NM_005630.3(SLCO2A1):c.656C>T (p.Pro219Leu)	SLCO2A1 (P219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165826	NM_005630.3(SLCO2A1):c.388G>T (p.Ala130Ser)	SLCO2A1 (A130S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165825	NM_005630.3(SLCO2A1):c.28T>C (p.Ser10Pro)	SLCO2A1 (S10P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3165824	NM_005630.3(SLCO2A1):c.1534G>C (p.Ala512Pro)	SLCO2A1 (A512P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165823	NM_005630.3(SLCO2A1):c.1297A>G (p.Thr433Ala)	LOC123038185, SLCO2A1 (T433A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165822	NM_005630.3(SLCO2A1):c.1153A>C (p.Ile385Leu)	SLCO2A1 (I385L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068564	NM_005630.3(SLCO2A1):c.209_210insA (p.Leu72fs)	SLCO2A1 (L72fs)	Insertion (frameshift variant)	Pachydermoperiostosis syndrome	GPathogenic
Select item 3050272	NM_005630.3(SLCO2A1):c.1278C>T (p.Ala426=)	SLCO2A1	Single nucleotide variant (synonymous variant)	SLCO2A1-related disorder	GLikely benign
Select item 3049675	NM_005630.3(SLCO2A1):c.252C>T (p.Leu84=)	SLCO2A1	Single nucleotide variant (synonymous variant)	SLCO2A1-related disorder	GLikely benign
Select item 3035504	NM_005630.3(SLCO2A1):c.126G>A (p.Gln42=)	SLCO2A1	Single nucleotide variant (synonymous variant)	SLCO2A1-related disorder	GLikely benign
Select item 3021581	NM_005630.3(SLCO2A1):c.625+11G>A	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020117	NM_005630.3(SLCO2A1):c.234+17G>T	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016178	NM_005630.3(SLCO2A1):c.794del (p.Ser264_Ser265insTer)	SLCO2A1	Deletion (nonsense)	not provided	GPathogenic
Select item 3001212	NM_005630.3(SLCO2A1):c.120C>T (p.Leu40=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997335	NM_005630.3(SLCO2A1):c.1827G>A (p.Leu609=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994146	NM_005630.3(SLCO2A1):c.1625+8G>C	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992658	NM_005630.3(SLCO2A1):c.724+8T>C	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991604	NM_005630.3(SLCO2A1):c.626-17C>T	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990728	NM_005630.3(SLCO2A1):c.626-4C>T	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987466	NM_005630.3(SLCO2A1):c.1296-20G>A	LOC123038185, SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986456	NM_005630.3(SLCO2A1):c.147C>T (p.Ser49=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966788	NM_005630.3(SLCO2A1):c.625+10C>T	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964565	NM_005630.3(SLCO2A1):c.1767G>A (p.Gly589=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958979	NM_005630.3(SLCO2A1):c.1296-17dup	LOC123038185, SLCO2A1	Duplication (intron variant)	not provided	GLikely benign
Select item 2954628	NM_005630.3(SLCO2A1):c.1347G>A (p.Ser449=)	LOC123038185, SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920746	NM_005630.3(SLCO2A1):c.1372G>T (p.Val458Phe)	LOC123038185, SLCO2A1	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 2920745	NM_005630.3(SLCO2A1):c.1461+1G>C	LOC123038185, SLCO2A1	Single nucleotide variant (splice donor variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 2920744	NM_005630.3(SLCO2A1):c.855del (p.Ala286fs)	SLCO2A1 (A286fs)	Deletion (frameshift variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 2920743	NM_005630.3(SLCO2A1):c.763G>A (p.Gly255Arg)	SLCO2A1	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 2920742	NM_005630.3(SLCO2A1):c.1668G>C (p.Gln556His)	SLCO2A1	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 2920740	NM_005630.3(SLCO2A1):c.1095C>A (p.Asn365Lys)	SLCO2A1 (N365K)	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 2920737	NM_005630.3(SLCO2A1):c.440G>A (p.Trp147Ter)	SLCO2A1 (W147*)	Single nucleotide variant (nonsense)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 2920736	NM_005630.3(SLCO2A1):c.759G>A (p.Trp253Ter)	SLCO2A1 (W253*)	Single nucleotide variant (nonsense)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 2920734	NM_005630.3(SLCO2A1):c.178G>A (p.Glu60Lys)	SLCO2A1 (E60K)	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 2920732	NM_005630.3(SLCO2A1):c.1106-1G>A	SLCO2A1	Single nucleotide variant (splice acceptor variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 2920730	NM_005630.3(SLCO2A1):c.421G>T (p.Glu141Ter)	SLCO2A1	Single nucleotide variant (nonsense)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 2909701	NM_005630.3(SLCO2A1):c.873C>T (p.Ala291=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898469	NM_005630.3(SLCO2A1):c.546C>T (p.Ile182=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894960	NM_005630.3(SLCO2A1):c.1572C>T (p.Phe524=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890300	NM_005630.3(SLCO2A1):c.862-4T>C	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879064	NM_005630.3(SLCO2A1):c.645T>G (p.Ser215=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873572	NM_005630.3(SLCO2A1):c.918C>T (p.Gly306=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871267	NM_005630.3(SLCO2A1):c.900G>A (p.Glu300=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834176	NM_005630.3(SLCO2A1):c.626-5del	SLCO2A1	Deletion (intron variant)	not provided	GBenign
Select item 2825028	NM_005630.3(SLCO2A1):c.102T>C (p.Phe34=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809597	NM_005630.3(SLCO2A1):c.861+13G>C	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804186	NM_005630.3(SLCO2A1):c.732T>C (p.Val244=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780352	NM_005630.3(SLCO2A1):c.582T>C (p.Tyr194=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769135	NM_005630.3(SLCO2A1):c.234+8G>A	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745728	NM_005630.3(SLCO2A1):c.139C>G (p.Leu47Val)	SLCO2A1 (L47V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720545	NM_005630.3(SLCO2A1):c.1899G>A (p.Glu633=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717452	NM_005630.3(SLCO2A1):c.1917G>A (p.Ala639=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715347	NM_005630.3(SLCO2A1):c.1497C>T (p.Ser499=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708031	NM_005630.3(SLCO2A1):c.1497dup (p.Ala500fs)	SLCO2A1 (A500fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2703380	NM_005630.3(SLCO2A1):c.1295+20G>C	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702960	NM_005630.3(SLCO2A1):c.336C>T (p.Ala112=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664889	NM_005630.3(SLCO2A1):c.659C>T (p.Ala220Val)	SLCO2A1 (A220V)	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GUncertain significance
Select item 2664881	NM_005630.3(SLCO2A1):c.663del (p.Phe221fs)	SLCO2A1 (F221fs)	Deletion (frameshift variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GLikely pathogenic
Select item 2627753	NM_005630.3(SLCO2A1):c.83_96+8del	SLCO2A1	Deletion (splice donor variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GLikely pathogenic
Select item 2573209	NM_005630.3(SLCO2A1):c.1370C>T (p.Pro457Leu)	LOC123038185, SLCO2A1 (P457L)	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GUncertain significance
Select item 2532476	NM_005630.3(SLCO2A1):c.1084G>C (p.Ala362Pro)	SLCO2A1 (A362P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511815	NM_005630.3(SLCO2A1):c.257T>C (p.Ile86Thr)	SLCO2A1 (I86T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502879	NM_005630.3(SLCO2A1):c.289C>T (p.Arg97Cys)	SLCO2A1 (R97C)	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GUncertain significance
Select item 2471885	NM_005630.3(SLCO2A1):c.1772G>A (p.Arg591Gln)	SLCO2A1 (R591Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436110	NM_005630.3(SLCO2A1):c.234+5G>A	SLCO2A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2428399	NM_005630.3(SLCO2A1):c.1371G>A (p.Pro457=)	LOC123038185, SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2425391	NC_000003.11:g.(?_133653557)_(133674057_?)dup	SLCO2A1	Duplication	not provided	GUncertain significance
Select item 2425390	NC_000003.11:g.(?_133661429)_(133698482_?)dup	SLCO2A1	Duplication	not provided	GLikely pathogenic
Select item 2420013	NM_005630.3(SLCO2A1):c.1282G>T (p.Val428Phe)	SLCO2A1 (V428F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419236	NM_005630.3(SLCO2A1):c.1509G>T (p.Lys503Asn)	SLCO2A1 (K503N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2414898	NM_005630.3(SLCO2A1):c.834C>T (p.Phe278=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2385845	NM_005630.3(SLCO2A1):c.56G>C (p.Arg19Pro)	SLCO2A1 (R19P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361833	NM_005630.3(SLCO2A1):c.1550C>T (p.Pro517Leu)	SLCO2A1 (P517L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2323775	NM_005630.3(SLCO2A1):c.538G>T (p.Ala180Ser)	SLCO2A1 (A180S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296392	NM_005630.3(SLCO2A1):c.473C>A (p.Thr158Asn)	SLCO2A1 (T158N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295287	NM_005630.3(SLCO2A1):c.964C>T (p.Leu322Phe)	SLCO2A1 (L322F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256523	NM_005630.3(SLCO2A1):c.878C>T (p.Ala293Val)	SLCO2A1 (A293V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242631	NM_005630.3(SLCO2A1):c.1205C>T (p.Thr402Ile)	SLCO2A1 (T402I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205620	NM_005630.3(SLCO2A1):c.379T>C (p.Tyr127His)	SLCO2A1 (Y127H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203442	NM_005630.3(SLCO2A1):c.1771C>T (p.Arg591Ter)	SLCO2A1 (R591*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2187387	NM_005630.3(SLCO2A1):c.1573G>A (p.Val525Met)	SLCO2A1 (V525M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183352	NM_005630.3(SLCO2A1):c.651T>C (p.Phe217=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183069	NM_005630.3(SLCO2A1):c.1845G>A (p.Ala615=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180934	NM_005630.3(SLCO2A1):c.817T>C (p.Phe273Leu)	SLCO2A1 (F273L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180598	NM_005630.3(SLCO2A1):c.1488C>T (p.Thr496=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178278	NM_005630.3(SLCO2A1):c.184C>T (p.Arg62Cys)	SLCO2A1 (R62C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163086	NM_005630.3(SLCO2A1):c.1291C>T (p.Pro431Ser)	SLCO2A1 (P431S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162797	NM_005630.3(SLCO2A1):c.226T>C (p.Leu76=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2152959	NM_005630.3(SLCO2A1):c.1021G>A (p.Val341Ile)	SLCO2A1 (V341I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133923	NM_005630.3(SLCO2A1):c.1851C>G (p.Gly617=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2121184	NM_005630.3(SLCO2A1):c.896T>C (p.Leu299Ser)	SLCO2A1 (L299S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118610	NM_005630.3(SLCO2A1):c.1345T>C (p.Ser449Pro)	LOC123038185, SLCO2A1 (S449P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114111	NM_005630.3(SLCO2A1):c.456C>T (p.Pro152=)	SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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