Related gene-specific medical variations for Gene (Select 6578) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2987466	NM_005630.3(SLCO2A1):c.1296-20G>A	LOC123038185, SLCO2A1	Single nucleotide variant (intron 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 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 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 2118610	NM_005630.3(SLCO2A1):c.1345T>C (p.Ser449Pro)	LOC123038185, SLCO2A1 (S449P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058266	NM_005630.3(SLCO2A1):c.1373T>C (p.Val458Ala)	LOC123038185, SLCO2A1 (V458A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898146	NM_005630.3(SLCO2A1):c.1417G>A (p.Gly473Ser)	LOC123038185, SLCO2A1 (G473S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1716737	NM_005630.3(SLCO2A1):c.1382A>G (p.Asp461Gly)	LOC123038185, SLCO2A1 (D461G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1620067	NM_005630.3(SLCO2A1):c.1296-16C>T	LOC123038185, SLCO2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1594715	NM_005630.3(SLCO2A1):c.1371G>C (p.Pro457=)	LOC123038185, SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1576683	NM_005630.3(SLCO2A1):c.1299A>G (p.Thr433=)	LOC123038185, SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530255	NM_005630.3(SLCO2A1):c.1434C>A (p.Asn478Lys)	LOC123038185, SLCO2A1 (N478K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1517283	NM_005630.3(SLCO2A1):c.1316C>T (p.Pro439Leu)	LOC123038185, SLCO2A1 (P439L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315796	NM_005630.3(SLCO2A1):c.1370C>G (p.Pro457Arg)	LOC123038185, SLCO2A1 (P457R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 931465	NM_005630.3(SLCO2A1):c.290G>A (p.Arg97His)	SLCO2A1 (R97H)	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GLikely pathogenic
Select item 793435	NM_005630.3(SLCO2A1):c.1440C>T (p.Ser480=)	LOC123038185, SLCO2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781714	NM_005630.3(SLCO2A1):c.1385A>G (p.Asn462Ser)	LOC123038185, SLCO2A1 (N462S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 774302	NM_005630.3(SLCO2A1):c.1333C>T (p.Arg445Cys)	SLCO2A1, LOC123038185 (R445C)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign

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Items: 27