C1837873[trait identifier] AND "Laboratory of Genetics in Ophthalmolog - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 978244	NM_022787.4(NMNAT1):c.-57+10C>T	LOC126805613, NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 978252	NM_022787.4(NMNAT1):c.1A>G (p.Met1Val)	NMNAT1 (M1V)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 9	GPathogenic
Select item 978251	NC_000001.11:g.(?_9972074)_(9975775_?)del	NMNAT1	Deletion	Leber congenital amaurosis 9	GPathogenic
Select item 978250	NC_000001.11:g.(?_9972074)_(9972188_?)del	NMNAT1	Deletion	Leber congenital amaurosis 9	GPathogenic
Select item 195375	NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)	NMNAT1 (A13T)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 190977	NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)	NMNAT1 (N18S)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 978239	NM_022787.4(NMNAT1):c.179T>G (p.Leu60Arg)	NMNAT1 (L60R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 972092	NM_022787.4(NMNAT1):c.205A>G (p.Met69Val)	NMNAT1 (M69V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GPathogenic
Select item 978253	NM_022787.4(NMNAT1):c.238G>A (p.Val80Met)	NMNAT1 (V80M)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 978254	NM_022787.4(NMNAT1):c.244G>T (p.Val82Phe)	NMNAT1 (V82F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 866255	NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)	NMNAT1 (V98G)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis +3 more	GPathogenic/Likely pathogenic
Select item 978255	NM_022787.4(NMNAT1):c.319G>T (p.Glu107Ter)	NMNAT1 (E107*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 9	GPathogenic
Select item 871050	NM_022787.4(NMNAT1):c.364del (p.Arg122fs)	NMNAT1 (R122fs)	Deletion (frameshift variant)	Leber congenital amaurosis 9 +1 more	GPathogenic
Select item 978256	NM_022787.4(NMNAT1):c.376A>T (p.Lys126Ter)	NMNAT1 (K126*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 9	GPathogenic
Select item 978257	NM_022787.4(NMNAT1):c.439G>C (p.Ala147Pro)	NMNAT1 (A147P +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 978258	NM_022787.4(NMNAT1):c.439+1G>C	NMNAT1	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 9	GPathogenic
Select item 978240	NM_022787.4(NMNAT1):c.458T>C (p.Leu153Pro)	NMNAT1 (L153P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 978243	NM_022787.4(NMNAT1):c.500A>T (p.Asn167Ile)	NMNAT1 (N167I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 265453	NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter)	NMNAT1 (W169*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 9 +1 more	GPathogenic
Select item 978259	NM_022787.4(NMNAT1):c.518A>G (p.Asp173Gly)	NMNAT1 (D173G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 951357	NM_022787.4(NMNAT1):c.532G>A (p.Val178Met)	NMNAT1 (V178M)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 978241	NM_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys)	NMNAT1 (Y181C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 978245	NM_022787.4(NMNAT1):c.593A>G (p.Tyr198Cys)	NMNAT1 (Y198C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 37133	NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp)	NMNAT1 (R207W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 978260	NM_022787.4(NMNAT1):c.643G>T (p.Glu215Ter)	NMNAT1 (E215*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 9	GPathogenic
Select item 978261	NM_022787.4(NMNAT1):c.647G>C (p.Trp216Ser)	NMNAT1 (W216S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 978246	NM_022787.4(NMNAT1):c.650T>A (p.Ile217Asn)	NMNAT1 (I217N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 464670	NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser)	NMNAT1 (L239S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GPathogenic
Select item 978242	NM_022787.4(NMNAT1):c.717G>T (p.Leu239Phe)	NMNAT1 (L239F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 978262	NM_022787.4(NMNAT1):c.752A>C (p.His251Pro)	NMNAT1 (H251P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 37134	NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	NMNAT1 (E257K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9 +3 more	GPathogenic

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Items: 35