"Ambry Genetics"[submitter] AND "LOC126806516"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1343709	NM_024782.3(NHEJ1):c.806C>T (p.Ala269Val)	LOC126806516, NHEJ1 (A269V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1343708	NM_024782.3(NHEJ1):c.805G>T (p.Ala269Ser)	LOC126806516, NHEJ1 (A269S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3199406	NM_024782.3(NHEJ1):c.788C>T (p.Ser263Leu)	LOC126806516, NHEJ1 (S263L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1054498	NM_024782.3(NHEJ1):c.748G>A (p.Asp250Asn)	LOC126806516, NHEJ1 (D250N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1356936	NM_024782.3(NHEJ1):c.743G>C (p.Gly248Ala)	LOC126806516, NHEJ1 (G248A +1 more)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency +1 more	GUncertain significance
Select item 2496469	NM_024782.3(NHEJ1):c.709G>C (p.Asp237His)	LOC126806516, NHEJ1 (D237H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar