C3151193[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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 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 887652	NM_004727.3(SLC24A1):c.47G>A (p.Arg16Gln)	SLC24A1 (R16Q)	Single nucleotide variant (missense variant)	not provided +1 more	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 259525	NM_004727.3(SLC24A1):c.109A>T (p.Thr37Ser)	SLC24A1 (T37S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 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 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 884501	NM_004727.3(SLC24A1):c.235C>G (p.Pro79Ala)	SLC24A1 (P79A)	Single nucleotide variant (missense variant)	not provided +2 more	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 316790	NM_004727.3(SLC24A1):c.425_428del (p.Glu142fs)	SLC24A1 (E142fs)	Deletion (frameshift variant)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316791	NM_004727.3(SLC24A1):c.639G>T (p.Ala213=)	SLC24A1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316792	NM_004727.3(SLC24A1):c.776T>C (p.Phe259Ser)	SLC24A1 (F259S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 195229	NM_004727.3(SLC24A1):c.803T>C (p.Val268Ala)	SLC24A1 (V268A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 195228	NM_004727.3(SLC24A1):c.931G>C (p.Val311Leu)	SLC24A1 (V311L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 259527	NM_004727.3(SLC24A1):c.937T>G (p.Leu313Val)	SLC24A1 (L313V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 316793	NM_004727.3(SLC24A1):c.980C>T (p.Thr327Ile)	SLC24A1 (T327I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 885436	NM_004727.3(SLC24A1):c.1271C>A (p.Pro424His)	SLC24A1 (P424H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 885437	NM_004727.3(SLC24A1):c.1287C>T (p.Pro429=)	SLC24A1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316794	NM_004727.3(SLC24A1):c.1374C>T (p.His458=)	SLC24A1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1D +1 more	GBenign
Select item 886462	NM_004727.3(SLC24A1):c.1441C>G (p.Leu481Val)	SLC24A1 (L481V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 316795	NM_004727.3(SLC24A1):c.1488C>T (p.Gly496=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 886463	NM_004727.3(SLC24A1):c.1542C>T (p.Ile514=)	SLC24A1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1D +1 more	GConflicting classifications of pathogenicity
Select item 713480	NM_004727.3(SLC24A1):c.1653C>T (p.Leu551=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316796	NM_004727.3(SLC24A1):c.1818C>T (p.Ile606=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 259526	NM_004727.3(SLC24A1):c.1822G>A (p.Val608Ile)	SLC24A1 (V608I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 287572	NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val)	SLC24A1 (A620V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 886464	NM_004727.3(SLC24A1):c.1886G>A (p.Ser629Asn)	SLC24A1 (S629N)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1D +1 more	GUncertain significance
Select item 887708	NM_004727.3(SLC24A1):c.1890+6G>A	SLC24A1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 887709	NM_004727.3(SLC24A1):c.1891-6T>C	SLC24A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 887710	NM_004727.3(SLC24A1):c.1892C>T (p.Pro631Leu)	SLC24A1 (P631L)	Single nucleotide variant (missense variant +1 more)	Congenital stationary night blindness 1D +2 more	GUncertain significance
Select item 316797	NM_004727.3(SLC24A1):c.1910C>T (p.Ala637Val)	SLC24A1 (A637V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 887711	NM_004727.3(SLC24A1):c.1911G>A (p.Ala637=)	SLC24A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887712	NM_004727.3(SLC24A1):c.1925A>G (p.Gln642Arg)	SLC24A1 (Q642R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 316798	NM_004727.3(SLC24A1):c.1945-14C>G	SLC24A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632242	NM_004727.3(SLC24A1):c.1976C>A (p.Ser659Ter)	SLC24A1 (S659* +1 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316799	NM_004727.3(SLC24A1):c.2053+6C>T	SLC24A1	Single nucleotide variant (intron variant)	Congenital stationary night blindness 1D	GUncertain significance
Select item 884562	NM_004727.3(SLC24A1):c.2106C>T (p.Ala702=)	SLC24A1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1D	GUncertain significance
Select item 884563	NM_004727.3(SLC24A1):c.2166G>A (p.Ala722=)	SLC24A1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1D +1 more	GConflicting classifications of pathogenicity
Select item 316800	NM_004727.3(SLC24A1):c.2171C>T (p.Thr724Met)	SLC24A1 (T724M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 316801	NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val)	SLC24A1 (A728V +2 more)	Single nucleotide variant (missense variant)	SLC24A1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 884564	NM_004727.3(SLC24A1):c.2226C>T (p.Gly742=)	SLC24A1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1D +1 more	GConflicting classifications of pathogenicity
Select item 316802	NM_004727.3(SLC24A1):c.2349T>C (p.Gly783=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 884565	NM_004727.3(SLC24A1):c.2516G>T (p.Gly839Val)	SLC24A1 (G166V +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316803	NM_004727.3(SLC24A1):c.2533G>A (p.Glu845Lys)	SLC24A1 (E845K +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1D	GUncertain significance
Select item 885498	NM_004727.3(SLC24A1):c.2574T>G (p.Asp858Glu)	SLC24A1 (D185E +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1D +1 more	GUncertain significance
Select item 198522	NM_004727.3(SLC24A1):c.2577C>T (p.Ser859=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 284166	NM_004727.3(SLC24A1):c.2594A>G (p.Glu865Gly)	SLC24A1 (E865G +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 316804	NM_004727.3(SLC24A1):c.2661A>G (p.Glu887=)	SLC24A1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316805	NM_004727.3(SLC24A1):c.2751C>T (p.Ile917=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 286514	NM_004727.3(SLC24A1):c.2764T>C (p.Trp922Arg)	SLC24A1 (W922R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 198521	NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316806	NM_004727.3(SLC24A1):c.2782G>A (p.Val928Ile)	SLC24A1 (V928I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 886520	NM_004727.3(SLC24A1):c.2794-11C>A	SLC24A1	Single nucleotide variant (intron variant)	Congenital stationary night blindness 1D +1 more	GConflicting classifications of pathogenicity
Select item 886521	NM_004727.3(SLC24A1):c.2838G>A (p.Met946Ile)	SLC24A1 (M273I +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital stationary night blindness 1D +1 more	GUncertain significance
Select item 316807	NM_004727.3(SLC24A1):c.2884-15G>A	SLC24A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 886522	NM_004727.3(SLC24A1):c.2884-9G>A	SLC24A1	Single nucleotide variant (intron variant)	Congenital stationary night blindness 1D +1 more	GConflicting classifications of pathogenicity
Select item 886523	NM_004727.3(SLC24A1):c.2917A>G (p.Met973Val)	SLC24A1 (M955V +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 316808	NM_004727.3(SLC24A1):c.3021G>A (p.Val1007=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886524	NM_004727.3(SLC24A1):c.3050+3G>C	SLC24A1	Single nucleotide variant (intron variant)	Congenital stationary night blindness 1D	GUncertain significance
Select item 886525	NM_004727.3(SLC24A1):c.3051-9A>G	SLC24A1	Single nucleotide variant (intron variant)	Congenital stationary night blindness 1D +1 more	GUncertain significance
Select item 887764	NM_004727.3(SLC24A1):c.3058G>A (p.Val1020Ile)	SLC24A1 (V347I +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital stationary night blindness 1D +1 more	GConflicting classifications of pathogenicity
Select item 887765	NM_004727.3(SLC24A1):c.3072T>C (p.Leu1024=)	SLC24A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887766	NM_004727.3(SLC24A1):c.3179C>T (p.Ala1060Val)	SLC24A1 (A387V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 316809	NM_004727.3(SLC24A1):c.3206T>A (p.Ile1069Asn)	SLC24A1 (I1069N +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 887767	NM_004727.3(SLC24A1):c.*37A>C	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GLikely benign
Select item 316810	NM_004727.3(SLC24A1):c.*40C>A	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 887768	NM_004727.3(SLC24A1):c.*203G>A	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316811	NM_004727.3(SLC24A1):c.*295G>A	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316812	NM_004727.3(SLC24A1):c.*349C>T	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316813	NM_004727.3(SLC24A1):c.*718C>A	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GBenign
Select item 316814	NM_004727.3(SLC24A1):c.*721G>A	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316815	NM_004727.3(SLC24A1):c.*732T>G	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GBenign
Select item 316816	NM_004727.3(SLC24A1):c.*766G>A	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GBenign
Select item 316817	NM_004727.3(SLC24A1):c.*778C>T	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GBenign
Select item 884623	NM_004727.3(SLC24A1):c.*809G>A	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 884624	NM_004727.3(SLC24A1):c.*858C>T	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 885561	NM_004727.3(SLC24A1):c.*986G>T	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 885562	NM_004727.3(SLC24A1):c.*1016G>A	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316818	NM_004727.3(SLC24A1):c.*1099A>T	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316819	NM_004727.3(SLC24A1):c.*1199T>C	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GBenign
Select item 885563	NM_004727.3(SLC24A1):c.*1346C>A	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316821	NM_004727.3(SLC24A1):c.*1363G>A	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316822	NM_004727.3(SLC24A1):c.*1474A>G	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316823	NM_004727.3(SLC24A1):c.*1504C>T	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GLikely benign
Select item 316824	NM_004727.3(SLC24A1):c.*1608C>T	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 886584	NM_004727.3(SLC24A1):c.*1616A>T	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316825	NM_004727.3(SLC24A1):c.*1618A>G	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GBenign
Select item 886585	NM_004727.3(SLC24A1):c.*1628C>A	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 886586	NM_004727.3(SLC24A1):c.*1699T>C	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 886587	NM_004727.3(SLC24A1):c.*1883A>G	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance
Select item 316826	NM_004727.3(SLC24A1):c.*1931C>T	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GLikely benign
Select item 886588	NM_004727.3(SLC24A1):c.*1959A>G	SLC24A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness 1D	GUncertain significance

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