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

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

Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361839	NM_001378477.3(NYX):c.109C>T (p.Arg37Cys)	NYX (R37C)	Single nucleotide variant (missense variant)	not provided	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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 21