ClinVar for MedGen (Select 482430) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1978090	NM_005630.3(SLCO2A1):c.1768del (p.Arg590fs)	SLCO2A1 (R590fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1526111	NM_005630.3(SLCO2A1):c.234G>A (p.Glu78=)	SLCO2A1	Single nucleotide variant (synonymous variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GUncertain significance
Select item 1526052	NM_005630.3(SLCO2A1):c.133C>T (p.Gln45Ter)	SLCO2A1 (Q45*)	Single nucleotide variant (nonsense)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GLikely pathogenic
Select item 1483488	NM_005630.3(SLCO2A1):c.1106G>A (p.Gly369Asp)	SLCO2A1 (G369D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1470160	NM_005630.3(SLCO2A1):c.1624C>T (p.Arg542Cys)	SLCO2A1 (R542C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1350810	NM_005630.3(SLCO2A1):c.310G>A (p.Gly104Arg)	SLCO2A1 (G104R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1290037	NM_005630.3(SLCO2A1):c.234+45G>C	SLCO2A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1177560	NM_005630.3(SLCO2A1):c.1237_1246del (p.Val413fs)	SLCO2A1 (V413fs)	Deletion (frameshift variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GLikely pathogenic
Select item 1177559	NM_005630.3(SLCO2A1):c.529C>T (p.Gln177Ter)	SLCO2A1 (Q177*)	Single nucleotide variant (nonsense)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GLikely pathogenic
Select item 1177558	NM_005630.3(SLCO2A1):c.614C>T (p.Pro205Leu)	SLCO2A1 (P205L)	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GLikely pathogenic
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 1174125	NM_005630.3(SLCO2A1):c.1814+1G>A	SLCO2A1	Single nucleotide variant (splice donor variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
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 1174123	NM_005630.3(SLCO2A1):c.621C>A (p.Tyr207Ter)	SLCO2A1 (Y207*)	Single nucleotide variant (nonsense)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	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 977939	NM_005630.3(SLCO2A1):c.547G>A (p.Gly183Arg)	SLCO2A1 (G183R)	Single nucleotide variant (missense variant)	not provided +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 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 829878	NM_005630.3(SLCO2A1):c.1106-1G>C	SLCO2A1	Single nucleotide variant (splice acceptor variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GLikely pathogenic
Select item 829873	NM_005630.3(SLCO2A1):c.86del (p.Gly29fs)	SLCO2A1 (G29fs)	Deletion (frameshift variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GLikely pathogenic
Select item 774302	NM_005630.3(SLCO2A1):c.1333C>T (p.Arg445Cys)	LOC123038185, SLCO2A1 (R445C)	Single nucleotide variant (missense variant)	SLCO2A1-related condition +1 more	GBenign/Likely benign
Select item 727669	NM_005630.3(SLCO2A1):c.484C>G (p.Pro162Ala)	SLCO2A1 (P162A)	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 +1 more	GConflicting classifications of pathogenicity
Select item 438675	NM_005630.3(SLCO2A1):c.664G>A (p.Gly222Arg)	SLCO2A1 (G222R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 225479	NM_005630.3(SLCO2A1):c.1279_1290del (p.Glu427_Pro430del)	SLCO2A1	Deletion (inframe_deletion)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GLikely pathogenic
Select item 225478	NM_005630.3(SLCO2A1):c.940+1G>A	SLCO2A1	Single nucleotide variant (splice donor variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 +1 more	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
Select item 37170	NM_005630.3(SLCO2A1):c.253A>T (p.Ile85Phe)	SLCO2A1 (I85F)	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 37169	NM_005630.3(SLCO2A1):c.1259G>T (p.Cys420Phe)	SLCO2A1 (C420F)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 37168	NM_005630.3(SLCO2A1):c.754C>T (p.Arg252Ter)	SLCO2A1 (R252*)	Single nucleotide variant (nonsense)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 37167	NM_005630.3(SLCO2A1):c.830dup (p.Phe278fs)	SLCO2A1 (F278fs)	Duplication (frameshift variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 30188	NM_005630.3(SLCO2A1):c.1634del (p.Asn545fs)	SLCO2A1 (N545fs)	Deletion (frameshift variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 30187	NM_005630.3(SLCO2A1):c.764G>A (p.Gly255Glu)	SLCO2A1 (G255E)	Single nucleotide variant (missense variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic
Select item 30186	NM_005630.3(SLCO2A1):c.97-1G>A	SLCO2A1	Single nucleotide variant (splice acceptor variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	GPathogenic

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Items: 52