C3489532[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 372711	NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	PROM1 (Y443fs +1 more)	Duplication (frameshift variant)	PROM1-related condition +5 more	GPathogenic/Likely pathogenic
Select item 329691	NM_000554.6(CRX):c.-55C>T	CRX	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 893403	NM_000554.6(CRX):c.-46C>T	CRX	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 329692	NM_000554.6(CRX):c.-39G>C	CRX	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign/Likely benign
Select item 329693	NM_000554.6(CRX):c.28C>G (p.His10Asp)	CRX (H10D)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +3 more	GConflicting classifications of pathogenicity
Select item 329694	NM_000554.6(CRX):c.78G>A (p.Met26Ile)	CRX (M26I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 99592	NM_000554.6(CRX):c.100+12C>T	CRX	Single nucleotide variant (intron variant)	Cone-rod dystrophy 2 +4 more	GBenign
Select item 329695	NM_000554.6(CRX):c.101-12A>G	CRX	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 329696	NM_000554.6(CRX):c.105C>A (p.Ala35=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 99597	NM_000554.6(CRX):c.196G>A (p.Val66Ile)	CRX (V66I)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 99600	NM_000554.6(CRX):c.253-15G>A	CRX	Single nucleotide variant (intron variant)	Leber congenital amaurosis 7 +3 more	GConflicting classifications of pathogenicity
Select item 99604	NM_000554.6(CRX):c.365G>A (p.Gly122Asp)	CRX (G122D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +6 more	GBenign/Likely benign
Select item 893435	NM_000554.6(CRX):c.400G>A (p.Asp134Asn)	CRX (D134N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 99605	NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)	CRX (Y142C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +4 more	GConflicting classifications of pathogenicity
Select item 893436	NM_000554.6(CRX):c.460A>G (p.Thr154Ala)	CRX (T154A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 99608	NM_000554.6(CRX):c.472G>A (p.Ala158Thr)	CRX (A158T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +4 more	GBenign/Likely benign
Select item 99613	NM_000554.6(CRX):c.549G>A (p.Gly183=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +2 more	GConflicting classifications of pathogenicity
Select item 329697	NM_000554.6(CRX):c.551C>T (p.Pro184Leu)	CRX (P184L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 894659	NM_000554.6(CRX):c.565G>C (p.Ala189Pro)	CRX (A189P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 99617	NM_000554.6(CRX):c.597C>T (p.Ser199=)	CRX	Single nucleotide variant (synonymous variant)	CRX-related condition +3 more	GConflicting classifications of pathogenicity
Select item 892657	NM_000554.6(CRX):c.606C>T (p.Cys202=)	CRX	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 892658	NM_000554.6(CRX):c.616T>C (p.Ser206Pro)	CRX (S206P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 892659	NM_000554.6(CRX):c.651C>T (p.Gly217=)	CRX	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 329698	NM_000554.6(CRX):c.717C>A (p.Gly239=)	CRX	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 893465	NM_000554.6(CRX):c.765C>T (p.Gly255=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +3 more	GConflicting classifications of pathogenicity
Select item 329699	NM_000554.6(CRX):c.857T>C (p.Leu286Pro)	CRX (L286P)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +3 more	GUncertain significance
Select item 329700	NM_000554.6(CRX):c.*6G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GConflicting classifications of pathogenicity
Select item 893767	NM_000554.6(CRX):c.*16T>C	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 329701	NM_000554.6(CRX):c.*19C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign/Likely benign
Select item 894687	NM_000554.6(CRX):c.*79C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 892702	NM_000554.6(CRX):c.*110C>A	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 892703	NM_000554.6(CRX):c.*117T>A	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GConflicting classifications of pathogenicity
Select item 329702	NM_000554.6(CRX):c.*118C>A	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 329703	NM_000554.6(CRX):c.*132G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 893499	NM_000554.6(CRX):c.*205G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 329704	NM_000554.6(CRX):c.*234G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 329705	NM_000554.6(CRX):c.*252C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 893797	NM_000554.6(CRX):c.*272T>C	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 893798	NM_000554.6(CRX):c.*366C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 329707	NM_000554.6(CRX):c.*392G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 329708	NM_000554.6(CRX):c.*400A>T	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign
Select item 329709	NM_000554.6(CRX):c.*401A>C	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign
Select item 329711	NM_000554.6(CRX):c.*436G>T	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 892733	NM_000554.6(CRX):c.*498G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 329712	NM_000554.6(CRX):c.*527C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 329713	NM_000554.6(CRX):c.*579T>C	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign
Select item 329714	NM_000554.6(CRX):c.*591G>C	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GBenign
Select item 329715	NM_000554.6(CRX):c.*595C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 329716	NM_000554.6(CRX):c.*679G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign
Select item 329717	NM_000554.6(CRX):c.*682C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 2 +2 more	GBenign
Select item 329718	NM_000554.6(CRX):c.*683G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 894745	NM_000554.6(CRX):c.*727C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 2 +2 more	GUncertain significance
Select item 329721	NM_000554.6(CRX):c.*746T>C	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 329722	NM_000554.6(CRX):c.*756T>A	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 329723	NM_000554.6(CRX):c.*767G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GConflicting classifications of pathogenicity
Select item 329724	NM_000554.6(CRX):c.*769G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GBenign
Select item 329725	NM_000554.6(CRX):c.*809C>G	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 329726	NM_000554.6(CRX):c.*839C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 329727	NM_000554.6(CRX):c.*860C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 2 +2 more	GBenign/Likely benign
Select item 329728	NM_000554.6(CRX):c.*907C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 2 +2 more	GUncertain significance
Select item 329729	NM_000554.6(CRX):c.*908G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 329730	NM_000554.6(CRX):c.*966G>C	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign
Select item 329731	NM_000554.6(CRX):c.*972C>G	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 329732	NM_000554.6(CRX):c.*996C>G	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GConflicting classifications of pathogenicity
Select item 329733	NM_000554.6(CRX):c.*1046C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GBenign
Select item 329734	NM_000554.6(CRX):c.*1063C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign/Likely benign
Select item 329735	NM_000554.6(CRX):c.*1122G>C	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign
Select item 329736	NM_000554.6(CRX):c.*1148G>C	CRX	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 2 +2 more	GLikely benign
Select item 329737	NM_000554.6(CRX):c.*1149G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 329738	NM_000554.6(CRX):c.*1220G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 893887	NM_000554.6(CRX):c.*1223A>G	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 329739	NM_000554.6(CRX):c.*1289G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign
Select item 329740	NM_000554.6(CRX):c.*1309T>C	CRX	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 2 +2 more	GUncertain significance
Select item 892826	NM_000554.6(CRX):c.*1330C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 329741	NM_000554.6(CRX):c.*1346G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 2 +2 more	GBenign
Select item 329742	NM_000554.6(CRX):c.*1455T>A	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign
Select item 329745	NM_000554.6(CRX):c.*1671G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 893631	NM_000554.6(CRX):c.*1684G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 329746	NM_000554.6(CRX):c.*1759G>T	CRX	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 2 +2 more	GUncertain significance
Select item 329747	NM_000554.6(CRX):c.*1792C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 2 +2 more	GBenign
Select item 329749	NM_000554.6(CRX):c.*1917G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GConflicting classifications of pathogenicity
Select item 329750	NM_000554.6(CRX):c.*1961G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 329751	NM_000554.6(CRX):c.*2017C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign/Likely benign
Select item 329752	NM_000554.6(CRX):c.*2039C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 892854	NM_000554.6(CRX):c.*2040G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 329753	NM_000554.6(CRX):c.*2106C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign
Select item 329754	NM_000554.6(CRX):c.*2113A>G	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 329755	NM_000554.6(CRX):c.*2137G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 329756	NM_000554.6(CRX):c.*2155G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign
Select item 329757	NM_000554.6(CRX):c.*2171C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GBenign
Select item 329758	NM_000554.6(CRX):c.*2183T>C	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign
Select item 894343	NM_000554.6(CRX):c.*2225A>G	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 329759	NM_000554.6(CRX):c.*2299C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 892897	NM_000554.6(CRX):c.*2343G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 892898	NM_000554.6(CRX):c.*2357G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 329760	NM_000554.6(CRX):c.*2375G>A	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign/Likely benign
Select item 329761	NM_000554.6(CRX):c.*2380C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign
Select item 329762	NM_000554.6(CRX):c.*2396C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 893976	NM_000554.6(CRX):c.*2402G>T	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 893977	NM_000554.6(CRX):c.*2404C>T	CRX	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance

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