"GeneDx"[submitter] AND "NMNAT1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 195375	NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)	NMNAT1 (A13T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1810158	NM_022787.4(NMNAT1):c.253T>C (p.Trp85Arg)	NMNAT1 (W85R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 265453	NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter)	NMNAT1 (W169*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 9 +2 more	GPathogenic
Select item 37133	NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp)	NMNAT1 (R207W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9 +1 more	GPathogenic
Select item 871051	NM_022787.4(NMNAT1):c.634G>A (p.Val212Met)	NMNAT1 (V212M)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9 +1 more	GConflicting classifications of pathogenicity
Select item 37134	NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	NMNAT1 (E257K)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic