ClinVar for Gene (Select 81796) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3165874	NM_030958.3(SLCO5A1):c.684C>G (p.Asn228Lys)	SLCO5A1 (N228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165873	NM_030958.3(SLCO5A1):c.2356C>T (p.His786Tyr)	SLCO5A1 (H786Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3165872	NM_030958.3(SLCO5A1):c.1131G>C (p.Lys377Asn)	SLCO5A1 (K377N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165871	NM_030958.3(SLCO5A1):c.1093A>G (p.Met365Val)	SLCO5A1 (M365V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3063003	GRCh37/hg19 8q13.2-13.3(chr8:69889747-72597645)x1	EYA1, LACTB2 +6 more	Copy number loss	not specified	GPathogenic
Select item 3022593	NM_030958.3(SLCO5A1):c.510G>A (p.Leu170=)	SLCO5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016214	NM_030958.3(SLCO5A1):c.1131GAAAAA[4] (p.Lys383_Phe384insLysLys)	SLCO5A1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3009058	NM_030958.3(SLCO5A1):c.2025G>A (p.Arg675=)	SLCO5A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3000036	NM_030958.3(SLCO5A1):c.237G>C (p.Leu79Phe)	SLCO5A1 (L79F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998637	NM_030958.3(SLCO5A1):c.291C>T (p.His97=)	SLCO5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997123	NM_030958.3(SLCO5A1):c.1693G>A (p.Glu565Lys)	SLCO5A1 (E510K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990831	NM_030958.3(SLCO5A1):c.702C>T (p.Asp234=)	SLCO5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986814	NM_030958.3(SLCO5A1):c.89C>T (p.Pro30Leu)	SLCO5A1 (P30L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986745	NM_030958.3(SLCO5A1):c.1669G>A (p.Val557Ile)	SLCO5A1 (V502I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984363	NM_030958.3(SLCO5A1):c.226C>A (p.Pro76Thr)	SLCO5A1 (P76T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983197	NM_030958.3(SLCO5A1):c.2372G>C (p.Arg791Pro)	SLCO5A1 (R736P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2980996	NM_030958.3(SLCO5A1):c.317C>A (p.Ser106Ter)	SLCO5A1 (S106*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2980970	NM_030958.3(SLCO5A1):c.338T>C (p.Met113Thr)	SLCO5A1 (M113T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973619	NM_030958.3(SLCO5A1):c.1424-5C>G	SLCO5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962322	NM_030958.3(SLCO5A1):c.454G>A (p.Val152Ile)	SLCO5A1 (V152I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961398	NM_030958.3(SLCO5A1):c.2482G>A (p.Ala828Thr)	SLCO5A1 (A773T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2961180	NM_030958.3(SLCO5A1):c.1623-15T>A	SLCO5A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2959340	NM_030958.3(SLCO5A1):c.1522A>G (p.Met508Val)	SLCO5A1 (M453V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959211	NM_030958.3(SLCO5A1):c.60T>A (p.Thr20=)	SLCO5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957367	NM_030958.3(SLCO5A1):c.824G>C (p.Gly275Ala)	SLCO5A1 (G275A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919544	NM_030958.3(SLCO5A1):c.60T>C (p.Thr20=)	SLCO5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909728	NM_030958.3(SLCO5A1):c.1894G>A (p.Glu632Lys)	SLCO5A1 (E577K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908340	NM_030958.3(SLCO5A1):c.887A>C (p.Glu296Ala)	SLCO5A1 (E296A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900375	NM_030958.3(SLCO5A1):c.1819C>T (p.Arg607Cys)	SLCO5A1 (R552C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893492	NM_030958.3(SLCO5A1):c.1259-6T>A	SLCO5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890898	NM_030958.3(SLCO5A1):c.1957G>C (p.Val653Leu)	SLCO5A1 (V598L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889056	NM_030958.3(SLCO5A1):c.802A>C (p.Ile268Leu)	SLCO5A1 (I268L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888040	NM_030958.3(SLCO5A1):c.2196G>A (p.Thr732=)	SLCO5A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2887194	NM_030958.3(SLCO5A1):c.1214C>T (p.Ala405Val)	SLCO5A1 (A405V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886665	NM_030958.3(SLCO5A1):c.106_107del (p.Lys36fs)	SLCO5A1 (K36fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2885059	NM_030958.3(SLCO5A1):c.662C>A (p.Pro221His)	SLCO5A1 (P221H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880463	NM_030958.3(SLCO5A1):c.2519G>T (p.Ser840Ile)	SLCO5A1 (S785I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2878062	NM_030958.3(SLCO5A1):c.2154G>A (p.Gln718=)	SLCO5A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2877778	NM_030958.3(SLCO5A1):c.1258+12C>G	SLCO5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877556	NM_030958.3(SLCO5A1):c.1054C>T (p.Leu352Phe)	SLCO5A1 (L352F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876831	NM_030958.3(SLCO5A1):c.1866T>G (p.Arg622=)	SLCO5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875839	NM_030958.3(SLCO5A1):c.1131GAAAAA[2] (p.Lys382_Lys383del)	SLCO5A1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2874472	NM_030958.3(SLCO5A1):c.715G>T (p.Gly239Cys)	SLCO5A1 (G239C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873205	NM_030958.3(SLCO5A1):c.2523dup (p.Ala842fs)	SLCO5A1 (A787fs +1 more)	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2869194	NM_030958.3(SLCO5A1):c.2090-1_2090insACAAATACAATTGTATATATTTAAAGGGTACAACATGTTGATTTGATCCTAAAAATCAACAGCGCATTCCT	SLCO5A1	Insertion (splice acceptor variant)	not provided	GUncertain significance
Select item 2868018	NM_030958.3(SLCO5A1):c.529G>T (p.Gly177Trp)	SLCO5A1 (G177W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861806	NM_030958.3(SLCO5A1):c.2034A>G (p.Glu678=)	SLCO5A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2844771	NM_030958.3(SLCO5A1):c.911T>C (p.Ile304Thr)	SLCO5A1 (I304T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841332	NM_030958.3(SLCO5A1):c.1622+9C>T	SLCO5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828780	NM_030958.3(SLCO5A1):c.1148A>G (p.Lys383Arg)	SLCO5A1 (K383R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825558	NM_030958.3(SLCO5A1):c.2043G>A (p.Glu681=)	SLCO5A1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2819339	NM_030958.3(SLCO5A1):c.2157A>G (p.Glu719=)	SLCO5A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2818334	NM_030958.3(SLCO5A1):c.1415T>C (p.Ile472Thr)	SLCO5A1 (I472T)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2802676	NM_030958.3(SLCO5A1):c.1041-14T>C	SLCO5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802172	NM_030958.3(SLCO5A1):c.2464C>T (p.Pro822Ser)	SLCO5A1 (P767S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2802157	NM_030958.3(SLCO5A1):c.1637T>C (p.Met546Thr)	SLCO5A1 (M546T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801073	NM_030958.3(SLCO5A1):c.1423+11G>A	SLCO5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800573	NM_030958.3(SLCO5A1):c.2465C>T (p.Pro822Leu)	SLCO5A1 (P822L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2796872	NM_030958.3(SLCO5A1):c.538GTG[5] (p.Val183_Phe184insVal)	SLCO5A1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2783694	NM_030958.3(SLCO5A1):c.2492C>T (p.Ser831Phe)	SLCO5A1 (S831F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2757886	NM_030958.3(SLCO5A1):c.1081G>T (p.Val361Leu)	SLCO5A1 (V361L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756993	NM_030958.3(SLCO5A1):c.363C>G (p.Tyr121Ter)	SLCO5A1 (Y121*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2755151	NM_030958.3(SLCO5A1):c.2337C>A (p.Thr779=)	SLCO5A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2751351	NM_030958.3(SLCO5A1):c.2204G>A (p.Arg735His)	SLCO5A1 (R735H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2748817	NM_030958.3(SLCO5A1):c.2109C>T (p.Ile703=)	SLCO5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724052	NM_030958.3(SLCO5A1):c.2120C>G (p.Ala707Gly)	SLCO5A1 (S685R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722182	NM_030958.3(SLCO5A1):c.241C>T (p.Pro81Ser)	SLCO5A1 (P81S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722181	NM_030958.3(SLCO5A1):c.467T>C (p.Ile156Thr)	SLCO5A1 (I156T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721678	NM_030958.3(SLCO5A1):c.55G>C (p.Ala19Pro)	SLCO5A1 (A19P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720026	NM_030958.3(SLCO5A1):c.1878C>T (p.Val626=)	SLCO5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718734	NM_030958.3(SLCO5A1):c.2417A>G (p.Glu806Gly)	SLCO5A1 (E751G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2716808	NM_030958.3(SLCO5A1):c.1424-9T>A	SLCO5A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2715090	NM_030958.3(SLCO5A1):c.1200C>T (p.Asn400=)	SLCO5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710916	NM_030958.3(SLCO5A1):c.1927C>T (p.Arg643Trp)	SLCO5A1 (R588W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708793	NM_030958.3(SLCO5A1):c.2441T>C (p.Ile814Thr)	SLCO5A1 (I759T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2705394	NM_030958.3(SLCO5A1):c.1534G>A (p.Gly512Ser)	SLCO5A1 (G457S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699630	NM_030958.3(SLCO5A1):c.907+3A>G	SLCO5A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2698788	NM_030958.3(SLCO5A1):c.1625C>T (p.Pro542Leu)	SLCO5A1 (P542L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694844	NM_030958.3(SLCO5A1):c.1691_1692insACCA (p.His564fs)	SLCO5A1 (H509fs +1 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2694843	NM_030958.3(SLCO5A1):c.1694A>T (p.Glu565Val)	SLCO5A1 (E510V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694842	NM_030958.3(SLCO5A1):c.1695G>A (p.Glu565=)	SLCO5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693506	NM_030958.3(SLCO5A1):c.123C>T (p.Leu41=)	SLCO5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615336	NM_030958.3(SLCO5A1):c.1901G>T (p.Gly634Val)	SLCO5A1 (G579V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611152	NM_030958.3(SLCO5A1):c.101G>A (p.Arg34Lys)	SLCO5A1 (R34K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608755	NM_030958.3(SLCO5A1):c.733A>G (p.Thr245Ala)	SLCO5A1 (T245A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603433	NM_030958.3(SLCO5A1):c.214T>G (p.Leu72Val)	SLCO5A1 (L72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601005	NM_030958.3(SLCO5A1):c.1217A>G (p.Asp406Gly)	SLCO5A1 (D406G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2551883	NM_030958.3(SLCO5A1):c.658C>A (p.Pro220Thr)	SLCO5A1 (P220T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546908	NM_030958.3(SLCO5A1):c.1282A>C (p.Ile428Leu)	SLCO5A1 (I428L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529714	NM_030958.3(SLCO5A1):c.1232C>T (p.Ser411Leu)	SLCO5A1 (S411L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2527534	NM_030958.3(SLCO5A1):c.400A>C (p.Met134Leu)	SLCO5A1 (M134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524680	NM_030958.3(SLCO5A1):c.2092T>A (p.Tyr698Asn)	SLCO5A1 (Y698N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475248	NM_030958.3(SLCO5A1):c.577C>G (p.Arg193Gly)	SLCO5A1 (R193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427873	NM_030958.3(SLCO5A1):c.867A>G (p.Leu289=)	SLCO5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2426958	NC_000008.10:g.(?_70591593)_(70594598_?)dup	SLCO5A1	Duplication	not provided	GUncertain significance
Select item 2421364	NM_030958.3(SLCO5A1):c.164G>A (p.Gly55Glu)	SLCO5A1 (G55E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419061	NM_030958.3(SLCO5A1):c.1031T>C (p.Ile344Thr)	SLCO5A1 (I344T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414945	NM_030958.3(SLCO5A1):c.689C>T (p.Ser230Leu)	SLCO5A1 (S230L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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