"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ARV1"[g - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 777986	NM_022786.3(ARV1):c.64A>T (p.Thr22Ser)	ARV1, LOC129932761 (T22S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 734292	NM_022786.3(ARV1):c.73G>T (p.Ala25Ser)	ARV1, LOC129932761 (A25S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 445383	NM_022786.3(ARV1):c.94T>C (p.Tyr32His)	ARV1, LOC129932761 (Y32H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 843659	NM_022786.3(ARV1):c.101G>A (p.Cys34Tyr)	ARV1, LOC129932761 (C34Y)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 38 +1 more	GUncertain significance
Select item 738503	NM_022786.3(ARV1):c.175-10A>C	ARV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 789436	NM_022786.3(ARV1):c.302G>A (p.Gly101Glu)	ARV1 (G101E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 725106	NM_022786.3(ARV1):c.360A>G (p.Gln120=)	ARV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1066297	NM_022786.3(ARV1):c.448+1G>T	ARV1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 839151	NM_022786.3(ARV1):c.518dup (p.Pro174fs)	ARV1 (P207fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 742517	NM_022786.3(ARV1):c.528C>T (p.Phe176=)	ARV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2425915	NC_000001.10:g.(?_229567246)_(231413288_?)del	ABCB10, ACTA1 +15 more	Deletion	not provided	GPathogenic
Select item 2425124	NC_000001.10:g.(?_230203028)_(231413288_?)del	AGT, ARV1 +10 more	Deletion	Congenital disorder of glycosylation, type IIq	GPathogenic
Select item 1411795	NC_000001.10:g.(?_229567246)_(232172577_?)dup	ABCB10, ACTA1 +21 more	Duplication	Actin accumulation myopathy	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ARL8A, CNIH4 +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance