"Ambry Genetics"[submitter] AND "LOC129936703"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2487704	NM_130384.3(ATRIP):c.38G>A (p.Ser13Asn)	ATRIP, ATRIP-TREX1 +1 more (S13N)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2599262	NM_130384.3(ATRIP):c.85C>G (p.Pro29Ala)	ATRIP, ATRIP-TREX1 +1 more (P29A)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance