"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ATP13A4 - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 787263	NM_032279.4(ATP13A4):c.3573C>T (p.Ser1191=)	ATP13A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734313	NM_032279.4(ATP13A4):c.3497C>T (p.Pro1166Leu)	ATP13A4 (P1166L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787264	NM_032279.4(ATP13A4):c.3405G>A (p.Leu1135=)	ATP13A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729133	NM_032279.4(ATP13A4):c.3121G>A (p.Val1041Ile)	ATP13A4 (V1041I)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 785077	NM_032279.4(ATP13A4):c.2947C>T (p.Leu983=)	ATP13A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729134	NM_032279.4(ATP13A4):c.2860T>C (p.Tyr954His)	ATP13A4 (Y954H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 773868	NM_032279.4(ATP13A4):c.2481G>A (p.Gly827=)	ATP13A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788401	NM_032279.4(ATP13A4):c.1921A>G (p.Thr641Ala)	ATP13A4 (T641A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 730890	NM_032279.4(ATP13A4):c.1745G>C (p.Cys582Ser)	ATP13A4 (C582S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 742745	NM_032279.4(ATP13A4):c.1695C>T (p.Asp565=)	ATP13A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785078	NM_032279.4(ATP13A4):c.1089C>T (p.Thr363=)	ATP13A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 760378	NM_032279.4(ATP13A4):c.739-9C>G	ATP13A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 788776	NM_032279.4(ATP13A4):c.182A>G (p.His61Arg)	ATP13A4 (H61R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3247018	NC_000003.11:g.(?_193207380)_(193409916_?)del	ATP13A4, OPA1	Deletion	not provided	GPathogenic
Select item 2426186	NC_000003.11:g.(?_193207380)_(193385089_?)dup	ATP13A4, OPA1	Duplication	not provided	GUncertain significance