ClinVar for Gene (Select 116085) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319064	NM_144585.4(SLC22A12):c.724A>G (p.Ser242Gly)	SLC22A12 (S21G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319063	NM_144585.4(SLC22A12):c.1022T>G (p.Leu341Arg)	SLC22A12 (L233R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319062	NM_144585.4(SLC22A12):c.1205A>C (p.His402Pro)	SLC22A12 (H181P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319061	NM_144585.4(SLC22A12):c.925G>C (p.Gly309Arg)	SLC22A12 (G201R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3319060	NM_144585.4(SLC22A12):c.1553C>T (p.Thr518Ile)	SLC22A12 (T484I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3163343	NM_144585.4(SLC22A12):c.419A>T (p.Asp140Val)	SLC22A12 (D140V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163342	NM_144585.4(SLC22A12):c.173C>T (p.Thr58Met)	SLC22A12 (T58M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163341	NM_144585.4(SLC22A12):c.1585G>C (p.Asp529His)	SLC22A12 (D421H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163340	NM_144585.4(SLC22A12):c.140A>C (p.His47Pro)	SLC22A12 (H47P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068550	NM_144585.4(SLC22A12):c.237G>A (p.Pro79=)	SLC22A12	Single nucleotide variant (synonymous variant +1 more)	Familial renal hypouricemia	GUncertain significance
Select item 3065292	NM_144585.4(SLC22A12):c.1247_1248insCGC (p.Ala416_Gly417insAla)	SLC22A12	Insertion (inframe_insertion)	Dalmatian hypouricemia	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3055141	NM_144585.4(SLC22A12):c.1533C>T (p.Ala511=)	SLC22A12	Single nucleotide variant (synonymous variant)	SLC22A12-related disorder	GLikely benign
Select item 3047884	NM_144585.4(SLC22A12):c.174G>A (p.Thr58=)	SLC22A12	Single nucleotide variant (synonymous variant +1 more)	SLC22A12-related disorder	GLikely benign
Select item 3020911	NM_144585.4(SLC22A12):c.403-15C>T	SLC22A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993983	NM_144585.4(SLC22A12):c.1074C>T (p.Phe358=)	SLC22A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984076	NM_144585.4(SLC22A12):c.1083C>T (p.Gly361=)	SLC22A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981952	NM_144585.4(SLC22A12):c.662-19C>G	SLC22A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977569	NM_144585.4(SLC22A12):c.411C>T (p.Leu137=)	SLC22A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972384	NM_144585.4(SLC22A12):c.1599-13G>A	SLC22A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963621	NM_144585.4(SLC22A12):c.662-18C>G	SLC22A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961083	NM_144585.4(SLC22A12):c.861C>T (p.Leu287=)	SLC22A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960595	NM_144585.4(SLC22A12):c.1047G>C (p.Arg349=)	SLC22A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960164	NM_144585.4(SLC22A12):c.63G>A (p.Thr21=)	SLC22A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2906402	NM_144585.4(SLC22A12):c.126C>A (p.Ala42=)	SLC22A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2735637	NM_144585.4(SLC22A12):c.1330G>A (p.Gly444Arg)	SLC22A12 (G410R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722991	NM_144585.4(SLC22A12):c.486G>A (p.Ala162=)	SLC22A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2683152	NM_144585.4(SLC22A12):c.689G>A (p.Arg230Gln)	SLC22A12 (R196Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2641926	NM_144585.4(SLC22A12):c.507-4G>A	SLC22A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2555759	NM_144585.4(SLC22A12):c.1442T>C (p.Ile481Thr)	SLC22A12 (I260T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548378	NM_144585.4(SLC22A12):c.1600G>T (p.Ala534Ser)	SLC22A12 (A500S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540268	NM_144585.4(SLC22A12):c.322T>C (p.Trp108Arg)	SLC22A12 (W108R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2501006	NM_144585.4(SLC22A12):c.1523G>A (p.Ser508Asn)	SLC22A12 (S287N +3 more)	Single nucleotide variant (missense variant)	Dalmatian hypouricemia	GPathogenic
Select item 2457721	NM_144585.4(SLC22A12):c.959T>C (p.Leu320Ser)	SLC22A12 (L99S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2409283	NM_144585.4(SLC22A12):c.358T>C (p.Trp120Arg)	SLC22A12 (W120R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377426	NM_144585.4(SLC22A12):c.1625C>T (p.Thr542Met)	SLC22A12 (T542M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333495	NM_144585.4(SLC22A12):c.1435G>A (p.Gly479Arg)	SLC22A12 (G371R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309768	NM_144585.4(SLC22A12):c.1361T>C (p.Ile454Thr)	SLC22A12 (I346T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282347	NM_144585.4(SLC22A12):c.686C>T (p.Ala229Val)	SLC22A12 (A195V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274758	NM_144585.4(SLC22A12):c.1582C>A (p.Gln528Lys)	SLC22A12 (Q528K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274756	NM_144585.4(SLC22A12):c.1573G>A (p.Asp525Asn)	SLC22A12 (D491N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272543	NM_144585.4(SLC22A12):c.205C>T (p.Pro69Ser)	SLC22A12 (P69S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249802	NM_144585.4(SLC22A12):c.468T>G (p.Ile156Met)	SLC22A12 (I156M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228911	NM_144585.4(SLC22A12):c.637G>C (p.Val213Leu)	SLC22A12 (V213L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2199907	NM_144585.4(SLC22A12):c.1476T>C (p.His492=)	SLC22A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192023	NM_144585.4(SLC22A12):c.947C>A (p.Thr316Asn)	SLC22A12 (T316N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191520	NM_144585.4(SLC22A12):c.208G>A (p.Glu70Lys)	SLC22A12 (E70K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2191164	NM_144585.4(SLC22A12):c.1566G>A (p.Pro522=)	SLC22A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190622	NM_144585.4(SLC22A12):c.1225C>T (p.Leu409=)	SLC22A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2188630	NM_144585.4(SLC22A12):c.1340C>T (p.Ala447Val)	SLC22A12 (A447V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186762	NM_144585.4(SLC22A12):c.345G>A (p.Pro115=)	SLC22A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2178929	NM_144585.4(SLC22A12):c.463G>A (p.Gly155Arg)	SLC22A12 (G155R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2176800	NM_144585.4(SLC22A12):c.955-10G>A	SLC22A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2176543	NM_144585.4(SLC22A12):c.129C>T (p.Ala43=)	SLC22A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2176266	NM_144585.4(SLC22A12):c.1185C>T (p.Gly395=)	SLC22A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175414	NM_144585.4(SLC22A12):c.1429_1451del (p.Arg477fs)	SLC22A12 (R369fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2173945	NM_144585.4(SLC22A12):c.1355T>A (p.Ile452Asn)	SLC22A12 (I418N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137128	NM_144585.4(SLC22A12):c.1430G>A (p.Arg477His)	SLC22A12 (R256H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2137126	NM_144585.4(SLC22A12):c.412G>A (p.Val138Met)	SLC22A12 (V138M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2124168	NM_144585.4(SLC22A12):c.1014C>T (p.Gly338=)	SLC22A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119638	NM_144585.4(SLC22A12):c.506+8C>A	SLC22A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2113963	NM_144585.4(SLC22A12):c.580C>T (p.Pro194Ser)	SLC22A12 (P194S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2083596	NM_144585.4(SLC22A12):c.1118C>T (p.Ala373Val)	SLC22A12 (A373V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078054	NM_144585.4(SLC22A12):c.851G>A (p.Arg284Gln)	SLC22A12 (R176Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070984	NM_144585.4(SLC22A12):c.1285G>A (p.Glu429Lys)	SLC22A12 (E429K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069425	NM_144585.4(SLC22A12):c.766C>T (p.Arg256Trp)	SLC22A12 (R222W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2065819	NM_144585.4(SLC22A12):c.1300C>T (p.Arg434Cys)	SLC22A12 (R213C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059357	NM_144585.4(SLC22A12):c.1224G>A (p.Thr408=)	SLC22A12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2056246	NM_144585.4(SLC22A12):c.431T>C (p.Leu144Pro)	SLC22A12 (L144P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2044689	NM_144585.4(SLC22A12):c.126C>T (p.Ala42=)	SLC22A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2004692	NM_144585.4(SLC22A12):c.279G>A (p.Gln93=)	SLC22A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2001590	NM_144585.4(SLC22A12):c.1070+15C>T	SLC22A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989037	NM_144585.4(SLC22A12):c.661+18C>T	SLC22A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1983955	NM_144585.4(SLC22A12):c.371G>A (p.Arg124His)	SLC22A12 (R124H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1977850	NM_144585.4(SLC22A12):c.814T>C (p.Cys272Arg)	SLC22A12 (C51R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1976889	NM_144585.4(SLC22A12):c.1464G>A (p.Leu488=)	SLC22A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973225	NM_144585.4(SLC22A12):c.507-5C>T	SLC22A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1956505	NM_144585.4(SLC22A12):c.62C>A (p.Thr21Lys)	SLC22A12 (T21K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1953878	NM_144585.4(SLC22A12):c.993C>T (p.Gly331=)	SLC22A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944336	NM_144585.4(SLC22A12):c.846G>A (p.Ser282=)	SLC22A12	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1936806	NM_144585.4(SLC22A12):c.65T>C (p.Met22Thr)	SLC22A12 (M22T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1924978	NM_144585.4(SLC22A12):c.142C>T (p.Arg48Cys)	SLC22A12 (R48C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1924045	NM_144585.4(SLC22A12):c.268C>T (p.Arg90Cys)	SLC22A12 (R90C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1919630	NM_144585.4(SLC22A12):c.918C>T (p.Asn306=)	SLC22A12	Single nucleotide variant (synonymous variant)	Dalmatian hypouricemia +1 more	GConflicting classifications of pathogenicity
Select item 1913993	NM_144585.4(SLC22A12):c.723C>G (p.Phe241Leu)	SLC22A12 (F207L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1912884	NM_144585.4(SLC22A12):c.236C>A (p.Pro79Gln)	SLC22A12 (P79Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908931	NM_144585.4(SLC22A12):c.1070G>A (p.Trp357Ter)	SLC22A12 (W249* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1908832	NM_144585.4(SLC22A12):c.1217G>A (p.Arg406His)	SLC22A12 (R298H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1908660	NM_144585.4(SLC22A12):c.759C>T (p.Tyr253=)	SLC22A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1907112	NM_144585.4(SLC22A12):c.789G>C (p.Leu263=)	SLC22A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1900424	NM_144585.4(SLC22A12):c.845C>T (p.Ser282Leu)	SLC22A12 (S61L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896081	NM_144585.4(SLC22A12):c.1459C>T (p.Arg487Trp)	SLC22A12 (R379W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803516	NM_144585.4(SLC22A12):c.220G>T (p.Ala74Ser)	SLC22A12 (A74S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1661000	NM_144585.4(SLC22A12):c.729C>T (p.Phe243=)	SLC22A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1647954	NM_144585.4(SLC22A12):c.591C>G (p.Pro197=)	SLC22A12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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