Related gene-specific medical variations for Gene (Select 126805613) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352472	NM_022787.4(NMNAT1):c.-57+19G>T	LOC126805613, NMNAT1	Single nucleotide variant (intron variant)	NMNAT1-related disorder	GLikely benign
Select item 2498392	NM_022787.4(NMNAT1):c.-57+2T>C	LOC126805613, NMNAT1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 978249	NM_022787.4(NMNAT1):c.-57G>T	LOC126805613, NMNAT1	Single nucleotide variant (5 prime UTR variant +1 more)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 978248	NM_022787.4(NMNAT1):c.-57+4A>G	LOC126805613, NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 978247	NM_022787.4(NMNAT1):c.-72G>A	LOC126805613, NMNAT1	Single nucleotide variant (5 prime UTR variant +1 more)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 978244	NM_022787.4(NMNAT1):c.-57+10C>T	LOC126805613, NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 978238	NM_022787.4(NMNAT1):c.-69C>T	LOC126805613, NMNAT1	Single nucleotide variant (5 prime UTR variant +1 more)	Leber congenital amaurosis 9	GPathogenic
Select item 865932	NM_022787.4(NMNAT1):c.-71G>C	LOC126805613, NMNAT1	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance

ClinVar