10002[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 759

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +196 more	Copy number loss	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 888357	NM_014249.3(NR2E3):c.-210C>T	NR2E3	Single nucleotide variant	Enhanced S-cone syndrome +1 more	GLikely benign
Select item 317002	NM_014249.4(NR2E3):c.-139G>T	NR2E3	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 317001	NM_014249.4(NR2E3):c.-139G>A	NR2E3	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 317003	NM_014249.4(NR2E3):c.-47C>T	NR2E3	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 550918	NM_014249.4(NR2E3):c.-10C>T	NR2E3	Single nucleotide variant (5 prime UTR variant)	Enhanced S-cone syndrome +1 more	GUncertain significance
Select item 2157324	NM_014249.4(NR2E3):c.2T>C (p.Met1Thr)	NR2E3 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1392332	NM_014249.4(NR2E3):c.2T>A (p.Met1Lys)	NR2E3 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 942544	NM_014249.4(NR2E3):c.2T>G (p.Met1Arg)	NR2E3 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2995211	NM_014249.4(NR2E3):c.5A>G (p.Glu2Gly)	NR2E3 (E2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421715	NM_014249.4(NR2E3):c.9C>T (p.Thr3=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2085676	NM_014249.4(NR2E3):c.11G>A (p.Arg4Lys)	NR2E3 (R4K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 959898	NM_014249.4(NR2E3):c.23T>C (p.Leu8Pro)	NR2E3 (L8P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 885248	NM_014249.4(NR2E3):c.24G>A (p.Leu8=)	NR2E3	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 959947	NM_014249.4(NR2E3):c.30del (p.Ser11fs)	NR2E3 (S11fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2989726	NM_014249.4(NR2E3):c.31T>G (p.Ser11Ala)	NR2E3 (S11A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432619	NM_014249.4(NR2E3):c.36del (p.Val13fs)	NR2E3 (V13fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1152477	NM_014249.4(NR2E3):c.36A>G (p.Thr12=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1036822	NM_014249.4(NR2E3):c.37G>T (p.Val13Leu)	NR2E3 (V13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1090447	NM_014249.4(NR2E3):c.39G>A (p.Val13=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 552215	NM_014249.4(NR2E3):c.45A>G (p.Ala15=)	NR2E3	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 37 +2 more	GLikely benign
Select item 990921	NM_014249.4(NR2E3):c.47C>T (p.Ala16Val)	NR2E3 (A16V)	Single nucleotide variant (missense variant)	Goldmann-Favre syndrome	GUncertain significance
Select item 1453596	NM_014249.4(NR2E3):c.50_51insAG (p.Pro18fs)	NR2E3 (P18fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 846003	NM_014249.4(NR2E3):c.50C>T (p.Ala17Val)	NR2E3 (A17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 713956	NM_014249.4(NR2E3):c.51G>A (p.Ala17=)	NR2E3	Single nucleotide variant (synonymous variant)	NR2E3-related disorder +1 more	GLikely benign
Select item 2148289	NM_014249.4(NR2E3):c.52C>T (p.Pro18Ser)	NR2E3 (P18S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575565	NM_014249.4(NR2E3):c.62G>A (p.Gly21Glu)	NR2E3 (G21E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 856848	NM_014249.4(NR2E3):c.67G>C (p.Ala23Pro)	NR2E3 (A23P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37 +2 more	GUncertain significance
Select item 1157881	NM_014249.4(NR2E3):c.69C>T (p.Ala23=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719283	NM_014249.4(NR2E3):c.72del (p.Arg25fs)	NR2E3 (R25fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 739771	NM_014249.4(NR2E3):c.76A>C (p.Lys26Gln)	NR2E3 (K26Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1386326	NM_014249.4(NR2E3):c.82T>A (p.Ser28Thr)	NR2E3 (S28T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 990922	NM_014249.4(NR2E3):c.90C>A (p.Gly30=)	NR2E3	Single nucleotide variant (synonymous variant)	Goldmann-Favre syndrome	GUncertain significance
Select item 3003999	NM_014249.4(NR2E3):c.91A>G (p.Arg31Gly)	NR2E3 (R31G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945736	NM_014249.4(NR2E3):c.92G>T (p.Arg31Ile)	NR2E3 (R31I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 963680	NM_014249.4(NR2E3):c.95G>A (p.Trp32Ter)	NR2E3 (W32*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2996674	NM_014249.4(NR2E3):c.98G>T (p.Gly33Val)	NR2E3 (G33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178318	NM_014249.4(NR2E3):c.102G>A (p.Leu34=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662220	NM_014249.4(NR2E3):c.102G>C (p.Leu34=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823175	NM_014249.4(NR2E3):c.114del (p.Thr39fs)	NR2E3 (T39fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1531778	NM_014249.4(NR2E3):c.114C>T (p.Pro38=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181232	NM_014249.4(NR2E3):c.116C>T (p.Thr39Ile)	NR2E3 (T39I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2677365	NM_014249.4(NR2E3):c.118+1G>A	NR2E3	Single nucleotide variant (splice donor variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2017502	NM_014249.4(NR2E3):c.118+1G>T	NR2E3	Single nucleotide variant (splice donor variant)	Enhanced S-cone syndrome +1 more	GLikely pathogenic
Select item 841524	NM_014249.4(NR2E3):c.118+3A>G	NR2E3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1591481	NM_014249.4(NR2E3):c.118+12_118+14del	NR2E3	Deletion (intron variant)	not provided	GLikely benign
Select item 1094157	NM_014249.4(NR2E3):c.118+10C>T	NR2E3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797111	NM_014249.4(NR2E3):c.118+13C>T	NR2E3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1412515	NM_014249.4(NR2E3):c.118+14T>A	NR2E3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 867073	NM_014249.4(NR2E3):c.118+15G>A	NR2E3	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 2876378	NM_014249.4(NR2E3):c.118+19G>A	NR2E3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233645	NM_014249.4(NR2E3):c.118+226T>C	NR2E3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 497704	NM_014249.4(NR2E3):c.119-28_119-13del	NR2E3	Deletion (intron variant)	not provided	GUncertain significance
Select item 1982909	NM_014249.4(NR2E3):c.119-28_119-14del	NR2E3	Deletion (intron variant)	not provided	GLikely benign
Select item 260366	NM_014249.4(NR2E3):c.119-28T>C	NR2E3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1598215	NM_014249.4(NR2E3):c.119-19C>T	NR2E3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732990	NM_014249.4(NR2E3):c.119-18C>T	NR2E3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1571903	NM_014249.4(NR2E3):c.119-15C>G	NR2E3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674844	NM_014249.4(NR2E3):c.119-12_119-11insAGCC	NR2E3	Insertion (intron variant)	not provided	GLikely benign
Select item 1623015	NM_014249.4(NR2E3):c.119-13C>T	NR2E3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993834	NM_014249.4(NR2E3):c.119-12C>A	NR2E3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991238	NM_014249.4(NR2E3):c.119-12C>T	NR2E3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818064	NM_014249.4(NR2E3):c.119-12C>G	NR2E3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 866657	NM_014249.4(NR2E3):c.119-11C>A	NR2E3	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 2811867	NM_014249.4(NR2E3):c.119-10T>G	NR2E3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2803359	NM_014249.4(NR2E3):c.119-9_119-3dup	NR2E3	Duplication (intron variant)	not provided	GLikely benign
Select item 1614873	NM_014249.4(NR2E3):c.119-10del	NR2E3	Deletion (intron variant)	not provided	GLikely benign
Select item 990923	NM_014249.4(NR2E3):c.119-10T>A	NR2E3	Single nucleotide variant (intron variant)	Goldmann-Favre syndrome	GUncertain significance
Select item 1140231	NM_014249.4(NR2E3):c.119-9G>T	NR2E3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1097240	NM_014249.4(NR2E3):c.119-9G>A	NR2E3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 317004	NM_014249.4(NR2E3):c.119-8C>T	NR2E3	Single nucleotide variant (intron variant)	Retinitis Pigmentosa, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 556393	NM_014249.4(NR2E3):c.119-6C>T	NR2E3	Single nucleotide variant (intron variant)	Enhanced S-cone syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2955265	NM_014249.4(NR2E3):c.119-5C>A	NR2E3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2677371	NM_014249.4(NR2E3):c.119-2A>T	NR2E3	Single nucleotide variant (splice acceptor variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 1361677	NM_014249.4(NR2E3):c.119-2A>G	NR2E3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 191059	NM_014249.4(NR2E3):c.119-2A>C	NR2E3	Single nucleotide variant (splice acceptor variant)	Enhanced S-cone syndrome +11 more	GPathogenic/Likely pathogenic
Select item 2000387	NC_000015.10:g.71811483del	NR2E3	Deletion	not provided	GPathogenic
Select item 957640	NM_014249.4(NR2E3):c.119-1G>A	NR2E3	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1511534	NM_014249.4(NR2E3):c.120C>T (p.Gly40=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990924	NM_014249.4(NR2E3):c.121G>A (p.Val41Met)	NR2E3 (V41M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1572969	NM_014249.4(NR2E3):c.123G>C (p.Val41=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 846374	NM_014249.4(NR2E3):c.123G>A (p.Val41=)	NR2E3	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1104679	NM_014249.4(NR2E3):c.126C>T (p.Ser42=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531956	NM_014249.4(NR2E3):c.129C>T (p.Pro43=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1451083	NM_014249.4(NR2E3):c.133_151dup (p.Gly51fs)	NR2E3 (G51fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1456422	NM_014249.4(NR2E3):c.131C>A (p.Ser44Ter)	NR2E3 (S44*)	Single nucleotide variant (nonsense)	Enhanced S-cone syndrome +1 more	GPathogenic
Select item 426441	NM_014249.4(NR2E3):c.131C>T (p.Ser44Leu)	NR2E3 (S44L)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +3 more	GUncertain significance
Select item 2007905	NM_014249.4(NR2E3):c.132G>C (p.Ser44=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1156935	NM_014249.4(NR2E3):c.132G>A (p.Ser44=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424217	NM_014249.4(NR2E3):c.133C>T (p.Leu45Phe)	NR2E3 (L45F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1654408	NM_014249.4(NR2E3):c.135C>A (p.Leu45=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534957	NM_014249.4(NR2E3):c.135C>G (p.Leu45=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1132278	NM_014249.4(NR2E3):c.135C>T (p.Leu45=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765751	NM_014249.4(NR2E3):c.136C>T (p.Gln46Ter)	NR2E3 (Q46*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1310560	NM_014249.4(NR2E3):c.138G>C (p.Gln46His)	NR2E3 (Q46H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 752166	NM_014249.4(NR2E3):c.138G>A (p.Gln46=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 793061	NM_014249.4(NR2E3):c.141C>T (p.Cys47=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029290	NM_014249.4(NR2E3):c.143_147dup (p.Cys50fs)	NR2E3 (C50fs)	Duplication (frameshift variant)	not provided	GPathogenic

<< First< Prev

Page of 8