SLC24A4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 1420	NC_000014.9:g.92307319G>T	SLC24A4	Single nucleotide variant	SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR	Gassociation
Select item 1265331	NM_153646.4(SLC24A4):c.-98A>G	SLC24A4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 870932	NM_153646.4(SLC24A4):c.13G>T (p.Gly5Trp)	SLC24A4 (G5W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2560098	NM_153646.4(SLC24A4):c.20T>C (p.Leu7Pro)	SLC24A4 (L7P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 768675	NM_153646.4(SLC24A4):c.108G>T (p.Ala36=)	SLC24A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 731783	NM_153646.4(SLC24A4):c.108G>A (p.Ala36=)	SLC24A4	Single nucleotide variant (synonymous variant +1 more)	SLC24A4-related condition +1 more	GBenign
Select item 1228967	NM_153646.4(SLC24A4):c.130+209G>T	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288166	NM_153646.4(SLC24A4):c.131-321C>T	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277530	NM_153646.4(SLC24A4):c.174G>A (p.Thr58=)	SLC24A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 723341	NM_153646.4(SLC24A4):c.232A>G (p.Thr78Ala)	SLC24A4 (T14A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1269884	NM_153646.4(SLC24A4):c.241+110T>C	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276946	NM_153646.4(SLC24A4):c.241+282C>T	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251647	NM_153646.4(SLC24A4):c.241+317T>C	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 788581	NM_153646.4(SLC24A4):c.243G>A (p.Ala81=)	SLC24A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728782	NM_153646.4(SLC24A4):c.318+8G>A	SLC24A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180238	NM_153646.4(SLC24A4):c.318+173A>T	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784294	NM_153646.4(SLC24A4):c.354C>T (p.Cys118=)	SLC24A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1297840	NM_153646.4(SLC24A4):c.393+64A>G	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 139659	NM_153646.4(SLC24A4):c.437C>T (p.Ala146Val)	SLC24A4 (A146V +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A5	GPathogenic
Select item 787639	NM_153646.4(SLC24A4):c.453G>A (p.Thr151=)	SLC24A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3051579	NM_153646.4(SLC24A4):c.468G>A (p.Ala156=)	SLC24A4	Single nucleotide variant (synonymous variant)	SLC24A4-related condition	GLikely benign
Select item 2349182	NM_153646.4(SLC24A4):c.473T>C (p.Val158Ala)	SLC24A4 (V158A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1278578	NM_153646.4(SLC24A4):c.495T>C (p.His165=)	SLC24A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2556469	NM_153646.4(SLC24A4):c.502G>T (p.Val168Phe)	SLC24A4 (V104F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345855	NM_153646.4(SLC24A4):c.502G>A (p.Val168Ile)	SLC24A4 (V104I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 798267	NM_153646.4(SLC24A4):c.543C>T (p.Ile181=)	SLC24A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790148	NM_153646.4(SLC24A4):c.564C>T (p.Cys188=)	SLC24A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2466389	NM_153646.4(SLC24A4):c.581A>G (p.Gln194Arg)	SLC24A4 (Q194R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1247030	NM_153646.4(SLC24A4):c.582+149T>C	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260404	NM_153646.4(SLC24A4):c.583-192T>C	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3046517	NM_153646.4(SLC24A4):c.597G>A (p.Thr199=)	SLC24A4	Single nucleotide variant (synonymous variant)	SLC24A4-related condition	GLikely benign
Select item 1326286	NM_153646.4(SLC24A4):c.613C>T (p.Arg205Ter)	SLC24A4 (R141* +1 more)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta	GPathogenic
Select item 786254	NM_153646.4(SLC24A4):c.655G>A (p.Val219Met)	SLC24A4 (V219M +1 more)	Single nucleotide variant (missense variant)	SLC24A4-related condition +1 more	GBenign/Likely benign
Select item 1288389	NM_153646.4(SLC24A4):c.658-310G>A	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268809	NM_153646.4(SLC24A4):c.658-251C>G	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2623111	NM_153646.4(SLC24A4):c.676A>G (p.Ile226Val)	SLC24A4 (I162V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738665	NM_153646.4(SLC24A4):c.702C>T (p.Leu234=)	SLC24A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2459298	NM_153646.4(SLC24A4):c.760T>C (p.Phe254Leu)	SLC24A4 (F254L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 741923	NM_153646.4(SLC24A4):c.778A>G (p.Lys260Glu)	SLC24A4 (K260E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2349089	NM_153646.4(SLC24A4):c.862G>A (p.Val288Met)	SLC24A4 (V288M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1235920	NM_153646.4(SLC24A4):c.881-207C>T	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 720703	NM_153646.4(SLC24A4):c.899A>G (p.Tyr300Cys)	SLC24A4 (Y236C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 139657	NM_153646.4(SLC24A4):c.1015C>T (p.Arg339Ter)	SLC24A4 (R339* +2 more)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta hypomaturation type 2A5	GPathogenic
Select item 1236514	NM_153646.4(SLC24A4):c.1051-35T>C	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3043196	NM_153646.4(SLC24A4):c.1077T>C (p.Asn359=)	SLC24A4	Single nucleotide variant (synonymous variant)	SLC24A4-related condition	GLikely benign
Select item 743705	NM_153646.4(SLC24A4):c.1113C>T (p.His371=)	SLC24A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2262765	NM_153646.4(SLC24A4):c.1120A>G (p.Ile374Val)	SLC24A4 (I355V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386747	NM_153646.4(SLC24A4):c.1129G>A (p.Gly377Arg)	SLC24A4 (G358R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721847	NM_153646.4(SLC24A4):c.1134T>A (p.Asn378Lys)	SLC24A4 (N314K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 739575	NM_153646.4(SLC24A4):c.1179G>A (p.Gln393=)	SLC24A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2203903	NM_153646.4(SLC24A4):c.1184C>T (p.Pro395Leu)	SLC24A4 (P331L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034236	NM_153646.4(SLC24A4):c.1188G>A (p.Pro396=)	SLC24A4	Single nucleotide variant (synonymous variant)	SLC24A4-related condition	GLikely benign
Select item 689492	NM_153646.4(SLC24A4):c.1192C>T (p.Gln398Ter)	SLC24A4 (Q334* +2 more)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta hypomaturation type 2A5	GPathogenic
Select item 719286	NM_153646.4(SLC24A4):c.1197A>G (p.Pro399=)	SLC24A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2547274	NM_153646.4(SLC24A4):c.1201C>G (p.Pro401Ala)	SLC24A4 (P401A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326904	NM_153646.4(SLC24A4):c.1202C>T (p.Pro401Leu)	SLC24A4 (P382L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644470	NM_153646.4(SLC24A4):c.1218G>A (p.Pro406=)	SLC24A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2208313	NM_153646.4(SLC24A4):c.1249G>A (p.Val417Met)	SLC24A4 (V353M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1242052	NM_153646.4(SLC24A4):c.1255+68C>T	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288957	NM_153646.4(SLC24A4):c.1255+80G>A	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283194	NM_153646.4(SLC24A4):c.1256-278G>C	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 731460	NM_153646.4(SLC24A4):c.1287C>T (p.Phe429=)	SLC24A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2370868	NM_153646.4(SLC24A4):c.1329C>G (p.Asn443Lys)	SLC24A4 (N424K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454876	NM_153646.4(SLC24A4):c.1355T>A (p.Phe452Tyr)	SLC24A4 (F388Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1281390	NM_153646.4(SLC24A4):c.1423-330C>T	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243976	NM_153646.4(SLC24A4):c.1423-172C>A	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183915	NM_153646.4(SLC24A4):c.1423-52T>G	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2206536	NM_153646.4(SLC24A4):c.1462A>T (p.Ile488Phe)	SLC24A4 (I469F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 765046	NM_153646.4(SLC24A4):c.1494A>G (p.Thr498=)	SLC24A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 139658	NM_153646.4(SLC24A4):c.1495A>T (p.Ser499Cys)	SLC24A4 (S499C +2 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A5	GPathogenic
Select item 721233	NM_153646.4(SLC24A4):c.1529C>T (p.Ala510Val)	SLC24A4 (A446V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713479	NM_153646.4(SLC24A4):c.1537+7A>G	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 725958	NM_153646.4(SLC24A4):c.1538-9C>G	SLC24A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3046701	NM_153646.4(SLC24A4):c.1578C>T (p.Asn526=)	SLC24A4	Single nucleotide variant (synonymous variant)	SLC24A4-related condition	GLikely benign
Select item 2465248	NM_153646.4(SLC24A4):c.1628T>C (p.Met543Thr)	SLC24A4 (M479T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1248009	NM_153646.4(SLC24A4):c.1651-121A>G	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227640	NM_153646.4(SLC24A4):c.1651-16del	SLC24A4	Deletion (intron variant)	not provided	GBenign
Select item 1243478	NM_153646.4(SLC24A4):c.1654A>C (p.Lys552Gln)	SLC24A4 (K488Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789818	NM_153646.4(SLC24A4):c.1671G>T (p.Gly557=)	SLC24A4	Single nucleotide variant (synonymous variant)	SLC24A4-related condition +1 more	GBenign/Likely benign
Select item 715936	NM_153646.4(SLC24A4):c.1683C>T (p.Ser561=)	SLC24A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783694	NM_153646.4(SLC24A4):c.1701C>T (p.Gly567=)	SLC24A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2445420	NM_153646.4(SLC24A4):c.1716+5G>A	SLC24A4	Single nucleotide variant (intron variant)	Amelogenesis imperfecta hypomaturation type 2A5	GUncertain significance
Select item 1290769	NM_153646.4(SLC24A4):c.1716+28G>A	SLC24A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3051418	NM_153646.4(SLC24A4):c.1720C>T (p.Leu574Phe)	SLC24A4 (L510F +2 more)	Single nucleotide variant (missense variant)	SLC24A4-related condition	GLikely benign
Select item 2480683	NM_153646.4(SLC24A4):c.1723G>C (p.Gly575Arg)	SLC24A4 (G511R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274282	NM_153646.4(SLC24A4):c.1724G>A (p.Gly575Asp)	SLC24A4 (G511D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715669	NM_153646.4(SLC24A4):c.1754G>A (p.Arg585Gln)	SLC24A4 (R585Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2538540	NM_153646.4(SLC24A4):c.1769A>G (p.Tyr590Cys)	SLC24A4 (Y571C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768676	NM_153646.4(SLC24A4):c.1837G>A (p.Val613Ile)	SLC24A4 (V549I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2478753	NM_153646.4(SLC24A4):c.1841A>G (p.Asn614Ser)	SLC24A4 (N595S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240390	NM_153646.4(SLC24A4):c.1851G>A (p.Met617Ile)	SLC24A4 (M553I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538230	NM_153646.4(SLC24A4):c.1855C>T (p.Arg619Trp)	SLC24A4 (R555W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710225	NM_153646.4(SLC24A4):c.1863C>T (p.Asp621=)	SLC24A4	Single nucleotide variant (synonymous variant)	not provided	GBenign

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