SLC24A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
Select item 316779	NM_004727.3(SLC24A1):c.-275G>A	SLC24A1	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GLikely benign
Select item 316780	NM_004727.3(SLC24A1):c.-182T>C	SLC24A1	Single nucleotide variant (intron variant +1 more)	Congenital stationary night blindness 1D	GBenign
Select item 316781	NM_004727.3(SLC24A1):c.-164C>T	SLC24A1	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GLikely benign
Select item 316782	NM_004727.3(SLC24A1):c.-161G>A	SLC24A1	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 887650	NM_004727.3(SLC24A1):c.-127+10G>A	SLC24A1	Single nucleotide variant (intron variant)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316783	NM_004727.3(SLC24A1):c.-113C>T	SLC24A1	Single nucleotide variant (5 prime UTR variant)	Congenital stationary night blindness 1D +1 more	GLikely benign
Select item 316784	NM_004727.3(SLC24A1):c.-73A>G	SLC24A1	Single nucleotide variant (5 prime UTR variant)	Congenital stationary night blindness 1D	GUncertain significance
Select item 887651	NM_004727.3(SLC24A1):c.-49T>C	SLC24A1	Single nucleotide variant (5 prime UTR variant)	Congenital stationary night blindness 1D	GUncertain significance
Select item 972065	NM_004727.3(SLC24A1):c.1A>G (p.Met1Val)	SLC24A1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 316785	NM_004727.3(SLC24A1):c.2T>C (p.Met1Thr)	SLC24A1 (M1T)	Single nucleotide variant (missense variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 955111	NM_004727.3(SLC24A1):c.26C>T (p.Pro9Leu)	SLC24A1 (P9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166738	NM_004727.3(SLC24A1):c.27G>C (p.Pro9=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1934166	NM_004727.3(SLC24A1):c.46C>T (p.Arg16Trp)	SLC24A1 (R16W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 887652	NM_004727.3(SLC24A1):c.47G>A (p.Arg16Gln)	SLC24A1 (R16Q)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1D +1 more	GUncertain significance
Select item 1366997	NM_004727.3(SLC24A1):c.55C>T (p.Arg19Trp)	SLC24A1 (R19W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2195727	NM_004727.3(SLC24A1):c.57G>A (p.Arg19=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1492493	NM_004727.3(SLC24A1):c.61C>A (p.His21Asn)	SLC24A1 (H21N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1417519	NM_004727.3(SLC24A1):c.62A>G (p.His21Arg)	SLC24A1 (H21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1556912	NM_004727.3(SLC24A1):c.63T>C (p.His21=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1001750	NM_004727.3(SLC24A1):c.68G>T (p.Ser23Ile)	SLC24A1 (S23I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 316786	NM_004727.3(SLC24A1):c.70C>T (p.Arg24Cys)	SLC24A1 (R24C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1494668	NM_004727.3(SLC24A1):c.71G>A (p.Arg24His)	SLC24A1 (R24H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497265	NM_004727.3(SLC24A1):c.74T>G (p.Leu25Arg)	SLC24A1 (L25R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 316787	NM_004727.3(SLC24A1):c.76C>T (p.Leu26Phe)	SLC24A1 (L26F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1158291	NM_004727.3(SLC24A1):c.78C>G (p.Leu26=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905001	NM_004727.3(SLC24A1):c.85C>G (p.Leu29Val)	SLC24A1 (L29V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427609	NM_004727.3(SLC24A1):c.90A>T (p.Gly30=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 560509	NM_004727.3(SLC24A1):c.95T>A (p.Leu32Ter)	SLC24A1 (L32*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GPathogenic
Select item 1082178	NM_004727.3(SLC24A1):c.102C>T (p.Ile34=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 259525	NM_004727.3(SLC24A1):c.109A>T (p.Thr37Ser)	SLC24A1 (T37S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1299942	NM_004727.3(SLC24A1):c.120C>T (p.His40=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1570251	NM_004727.3(SLC24A1):c.132C>T (p.Pro44=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071113	NM_004727.3(SLC24A1):c.133C>T (p.Arg45Trp)	SLC24A1 (R45W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1451529	NM_004727.3(SLC24A1):c.137dup (p.Leu47fs)	SLC24A1 (L47fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 316788	NM_004727.3(SLC24A1):c.134G>A (p.Arg45Gln)	SLC24A1 (R45Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1603168	NM_004727.3(SLC24A1):c.144C>T (p.Ser48=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1423225	NM_004727.3(SLC24A1):c.146C>T (p.Ser49Leu)	SLC24A1 (S49L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635348	NM_004727.3(SLC24A1):c.147A>C (p.Ser49=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1107064	NM_004727.3(SLC24A1):c.148T>C (p.Leu50=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418481	NM_004727.3(SLC24A1):c.150G>A (p.Leu50=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986615	NM_004727.3(SLC24A1):c.152G>A (p.Trp51Ter)	SLC24A1 (W51*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1480558	NM_004727.3(SLC24A1):c.152G>C (p.Trp51Ser)	SLC24A1 (W51S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1350188	NM_004727.3(SLC24A1):c.160G>C (p.Val54Leu)	SLC24A1 (V54L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352702	NM_004727.3(SLC24A1):c.162_169del (p.Ser56fs)	SLC24A1 (S56fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2098311	NM_004727.3(SLC24A1):c.169C>T (p.His57Tyr)	SLC24A1 (H57Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040391	NM_004727.3(SLC24A1):c.172C>A (p.Gln58Lys)	SLC24A1 (Q58K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 962672	NM_004727.3(SLC24A1):c.172C>T (p.Gln58Ter)	SLC24A1 (Q58*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 884500	NM_004727.3(SLC24A1):c.175C>G (p.Pro59Ala)	SLC24A1 (P59A)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1D +1 more	GConflicting classifications of pathogenicity
Select item 1909030	NM_004727.3(SLC24A1):c.180A>G (p.Ile60Met)	SLC24A1 (I60M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1655733	NM_004727.3(SLC24A1):c.186G>A (p.Leu62=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1387181	NM_004727.3(SLC24A1):c.193C>T (p.Arg65Trp)	SLC24A1 (R65W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2327949	NM_004727.3(SLC24A1):c.199C>T (p.Leu67Phe)	SLC24A1 (L67F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1059751	NM_004727.3(SLC24A1):c.206G>T (p.Ser69Ile)	SLC24A1 (S69I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395532	NM_004727.3(SLC24A1):c.215TGA[3] (p.Met75del)	SLC24A1 (M75del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1112367	NM_004727.3(SLC24A1):c.213G>A (p.Glu71=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1471567	NM_004727.3(SLC24A1):c.222G>C (p.Met74Ile)	SLC24A1 (M74I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 316789	NM_004727.3(SLC24A1):c.222G>T (p.Met74Ile)	SLC24A1 (M74I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1085604	NM_004727.3(SLC24A1):c.231C>T (p.Ser77=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649291	NM_004727.3(SLC24A1):c.234C>T (p.Ser78=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 884501	NM_004727.3(SLC24A1):c.235C>G (p.Pro79Ala)	SLC24A1 (P79A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1348507	NM_004727.3(SLC24A1):c.239C>T (p.Ser80Leu)	SLC24A1 (S80L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521267	NM_004727.3(SLC24A1):c.248G>C (p.Ser83Thr)	SLC24A1 (S83T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706893	NM_004727.3(SLC24A1):c.252C>G (p.Ser84=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1158297	NM_004727.3(SLC24A1):c.252C>T (p.Ser84=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 851099	NM_004727.3(SLC24A1):c.253G>A (p.Glu85Lys)	SLC24A1 (E85K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1046209	NM_004727.3(SLC24A1):c.258G>A (p.Met86Ile)	SLC24A1 (M86I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1052878	NM_004727.3(SLC24A1):c.284C>A (p.Ala95Asp)	SLC24A1 (A95D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374206	NM_004727.3(SLC24A1):c.289G>A (p.Val97Met)	SLC24A1 (V97M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002578	NM_004727.3(SLC24A1):c.294C>T (p.Gly98=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974662	NM_004727.3(SLC24A1):c.298G>T (p.Asp100Tyr)	SLC24A1 (D100Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 856900	NM_004727.3(SLC24A1):c.299A>G (p.Asp100Gly)	SLC24A1 (D100G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063631	NM_004727.3(SLC24A1):c.302A>T (p.Glu101Val)	SLC24A1 (E101V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 884502	NM_004727.3(SLC24A1):c.309A>G (p.Thr103=)	SLC24A1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1D +1 more	GConflicting classifications of pathogenicity
Select item 3319159	NM_004727.3(SLC24A1):c.326A>G (p.Glu109Gly)	SLC24A1 (E109G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1716395	NM_004727.3(SLC24A1):c.328A>G (p.Asn110Asp)	SLC24A1 (N110D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 938598	NM_004727.3(SLC24A1):c.337A>G (p.Ser113Gly)	SLC24A1 (S113G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934879	NM_004727.3(SLC24A1):c.341T>C (p.Met114Thr)	SLC24A1 (M114T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386354	NM_004727.3(SLC24A1):c.349A>G (p.Arg117Gly)	SLC24A1 (R117G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985840	NM_004727.3(SLC24A1):c.353C>G (p.Thr118Arg)	SLC24A1 (T118R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1959454	NM_004727.3(SLC24A1):c.361A>G (p.Met121Val)	SLC24A1 (M121V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503768	NM_004727.3(SLC24A1):c.391A>G (p.Ser131Gly)	SLC24A1 (S131G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942234	NM_004727.3(SLC24A1):c.416G>A (p.Arg139Lys)	SLC24A1 (R139K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917642	NM_004727.3(SLC24A1):c.423G>A (p.Lys141=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 316790	NM_004727.3(SLC24A1):c.425_428del (p.Glu142fs)	SLC24A1 (E142fs)	Deletion (frameshift variant)	Congenital stationary night blindness 1D	GUncertain significance
Select item 1038557	NM_004727.3(SLC24A1):c.431C>A (p.Thr144Asn)	SLC24A1 (T144N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996229	NM_004727.3(SLC24A1):c.432C>T (p.Thr144=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916070	NM_004727.3(SLC24A1):c.441C>T (p.Ser147=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1651549	NM_004727.3(SLC24A1):c.450A>G (p.Thr150=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955882	NM_004727.3(SLC24A1):c.456T>C (p.Thr152=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102037	NM_004727.3(SLC24A1):c.457T>G (p.Tyr153Asp)	SLC24A1 (Y153D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105068	NM_004727.3(SLC24A1):c.464C>T (p.Thr155Ile)	SLC24A1 (T155I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485232	NM_004727.3(SLC24A1):c.475A>G (p.Ser159Gly)	SLC24A1 (S159G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 865863	NM_004727.3(SLC24A1):c.481C>T (p.Gln161Ter)	SLC24A1 (Q161*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1534377	NM_004727.3(SLC24A1):c.483A>G (p.Gln161=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1537317	NM_004727.3(SLC24A1):c.486A>C (p.Ile162=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133742	NM_004727.3(SLC24A1):c.494dup (p.Tyr166fs)	SLC24A1 (Y166fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 847684	NM_004727.3(SLC24A1):c.495G>T (p.Lys165Asn)	SLC24A1 (K165N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717292	NM_004727.3(SLC24A1):c.503C>T (p.Pro168Leu)	SLC24A1 (P168L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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