Related gene-specific medical variations for Gene (Select 60506) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 867172	NM_001378477.3(NYX):c.603_746del (p.Ser205_Arg252del)	NYX	Deletion (inframe_deletion)	Retinal dystrophy	GLikely pathogenic
Select item 867038	NM_001378477.3(NYX):c.224G>C (p.Arg75Pro)	NYX (R80P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866725	NM_001378477.3(NYX):c.317G>C (p.Arg106Pro)	NYX (R111P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866203	NM_001378477.3(NYX):c.811_833del (p.Asp271fs)	NYX (D276fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866117	NM_001378477.3(NYX):c.709_710delinsGG (p.Leu237Gly)	NYX (L242G +1 more)	Indel (missense variant)	Retinal dystrophy	GUncertain significance
Select item 99843	NM_001378477.3(NYX):c.77G>C (p.Cys26Ser)	NYX (C31S +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99842	NM_001378477.3(NYX):c.878T>C (p.Phe293Ser)	NYX (F298S +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99840	NM_001378477.3(NYX):c.839T>C (p.Leu280Pro)	NYX (L285P +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99839	NM_001378477.3(NYX):c.777C>G (p.Asn259Lys)	NYX (N264K +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99838	NM_001378477.3(NYX):c.717_728del (p.Glu239_Ala242del)	NYX	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 99837	NM_001378477.3(NYX):c.680T>C (p.Leu227Pro)	NYX (L232P +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99836	NM_001378477.3(NYX):c.632A>T (p.Asn211Ile)	NYX (N216I +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99835	NM_001378477.3(NYX):c.623T>A (p.Leu208Gln)	NYX (L213Q +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99834	NM_001378477.3(NYX):c.536T>C (p.Leu179Pro)	NYX (L184P +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99833	NM_001378477.3(NYX):c.509C>G (p.Pro170Arg)	NYX (P175R +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99831	NM_001378477.3(NYX):c.412G>C (p.Ala138Pro)	NYX (A143P +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99830	NM_001378477.3(NYX):c.325_339del (p.Glu109_Ala113del)	NYX	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 99829	NM_001378477.3(NYX):c.1094G>T (p.Gly365Val)	NYX (G370V +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99828	NM_001378477.3(NYX):c.1025T>C (p.Leu342Pro)	NYX (L347P +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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Links from Gene

Items: 20