ClinVar for MedGen (Select 501208) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1710113	NM_001378477.3(NYX):c.944_971dup (p.Phe327fs)	NYX (F327fs)	Duplication (frameshift variant)	Congenital stationary night blindness 1A	GLikely pathogenic
Select item 1710112	NM_001378477.3(NYX):c.22+5G>A	NYX	Single nucleotide variant (intron variant)	Congenital stationary night blindness 1A	GUncertain significance
Select item 1710009	NM_001378477.3(NYX):c.419_420delinsAA (p.Cys140Ter)	NYX (C140*)	Indel (nonsense)	Congenital stationary night blindness 1A	GLikely pathogenic
Select item 1333398	NM_001378477.3(NYX):c.467T>C (p.Leu156Pro)	NYX (L156P)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1A	GUncertain significance
Select item 1213864	NM_001378477.3(NYX):c.371_372dup (p.Thr125fs)	NYX (T125fs)	Microsatellite (frameshift variant)	Congenital stationary night blindness 1A	GUncertain significance
Select item 1184477	NM_001378477.3(NYX):c.1293dup (p.Leu432fs)	NYX (L432fs)	Duplication (frameshift variant)	Congenital stationary night blindness 1A	GLikely pathogenic
Select item 931985	NM_001378477.3(NYX):c.604_612dup (p.Arg202_Arg204dup)	NYX	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914666	NM_001378477.3(NYX):c.787C>G (p.Arg263Gly)	NYX (R268G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 914665	NM_001378477.3(NYX):c.722C>T (p.Pro241Leu)	NYX (P246L +1 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1A +2 more	GUncertain significance
Select item 914664	NM_001378477.3(NYX):c.645C>G (p.Ala215=)	NYX	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914663	NM_001378477.3(NYX):c.368C>T (p.Ala123Val)	NYX (A128V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 914662	NM_001378477.3(NYX):c.207G>A (p.Leu69=)	NYX	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 914661	NM_001378477.3(NYX):c.148C>T (p.Arg50Trp)	NYX (R55W +1 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1A +1 more	GUncertain significance
Select item 914209	NM_001378477.3(NYX):c.*744C>T	NYX	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1A	GUncertain significance
Select item 914163	NM_001378477.3(NYX):c.-57+99T>C	NYX	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital stationary night blindness 1A	GUncertain significance
Select item 913806	NM_001378477.3(NYX):c.*383G>T	NYX	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1A	GUncertain significance
Select item 913805	NM_001378477.3(NYX):c.*152A>G	NYX	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1A	GLikely benign
Select item 913804	NM_001378477.3(NYX):c.*140G>A	NYX	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1A	GUncertain significance
Select item 756676	NM_001378477.3(NYX):c.1379G>T (p.Cys460Phe)	NYX (C465F +1 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1A +2 more	GConflicting classifications of pathogenicity
Select item 596320	NM_001378477.3(NYX):c.567C>A (p.Ile189=)	NYX	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 496942	NM_001378477.3(NYX):c.23-1_23delinsTT	NYX	Indel (splice acceptor variant)	NYX-related condition +2 more	GPathogenic/Likely pathogenic
Select item 368280	NM_001378477.3(NYX):c.*736G>C	NYX	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1A	GLikely benign
Select item 368278	NM_001378477.3(NYX):c.*509G>C	NYX	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1A	GBenign
Select item 368277	NM_001378477.3(NYX):c.*414C>T	NYX	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1A	GLikely benign
Select item 368276	NM_001378477.3(NYX):c.*157C>G	NYX	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1A	GUncertain significance
Select item 368275	NM_001378477.3(NYX):c.*103G>A	NYX	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1A	GUncertain significance
Select item 368274	NM_001378477.3(NYX):c.*72T>C	NYX	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1A	GUncertain significance
Select item 368272	NM_001378477.3(NYX):c.1238C>G (p.Ser413Cys)	NYX (S418C +1 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1A +1 more	GBenign
Select item 368271	NM_001378477.3(NYX):c.1212C>T (p.Thr404=)	NYX	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1A +1 more	GBenign/Likely benign
Select item 368270	NM_001378477.3(NYX):c.1183G>A (p.Gly395Ser)	NYX (G400S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 368269	NM_001378477.3(NYX):c.1020G>A (p.Glu340=)	NYX	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 368268	NM_001378477.3(NYX):c.828G>A (p.Glu276=)	NYX	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 368267	NM_001378477.3(NYX):c.-56-45T>G	NYX	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital stationary night blindness 1A	GUncertain significance
Select item 368266	NM_001378477.3(NYX):c.-57+95T>C	NYX	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital stationary night blindness 1A +1 more	GBenign
Select item 368265	NM_001378477.3(NYX):c.-57+60A>G	NYX	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital stationary night blindness 1A +1 more	GBenign
Select item 368264	NM_001378477.3(NYX):c.-57+46T>C	NYX	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital stationary night blindness 1A	GUncertain significance
Select item 195374	NM_001378477.3(NYX):c.1202C>G (p.Ala401Gly)	NYX (A406G +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 99841	NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del)	NYX	Deletion (inframe_deletion)	not provided +1 more	GPathogenic
Select item 11425	NM_001378477.3(NYX):c.287T>C (p.Ile96Thr)	NYX (I96T)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1A	GPathogenic
Select item 11424	NM_001378477.3(NYX):c.266G>C (p.Arg89Pro)	NYX (R89P)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1A	GPathogenic
Select item 11423	NM_022567.2(NYX):c.559_560delinsAA (p.Ala187Lys)	NYX	Indel	Congenital stationary night blindness 1A	GPathogenic
Select item 11422	NM_001378477.3(NYX):c.90C>A (p.Cys30Ter)	NYX (C35* +1 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness 1A	GPathogenic
Select item 11421	NM_001378477.3(NYX):c.1034G>A (p.Trp345Ter)	NYX (W350* +1 more)	Single nucleotide variant (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity

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Links from MedGen

Items: 43