"PreventionGenetics, part of Exact Sciences"[submitter] AND "ATP13A3"[ - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2712237	NM_001367549.1(ATP13A3):c.3744A>G (p.Gly1248=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2636708	NM_001367549.1(ATP13A3):c.3632A>G (p.Lys1211Arg)	ATP13A3 (K1181R +2 more)	Single nucleotide variant (missense variant +1 more)	ATP13A3-related condition	GUncertain significance
Select item 1670948	NM_001367549.1(ATP13A3):c.3136A>G (p.Thr1046Ala)	ATP13A3 (T1019A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2057272	NM_001367549.1(ATP13A3):c.3122C>T (p.Ser1041Leu)	ATP13A3 (S1014L +1 more)	Single nucleotide variant (missense variant +1 more)	ATP13A3-related condition +1 more	GBenign
Select item 1623384	NM_001367549.1(ATP13A3):c.3070G>A (p.Gly1024Ser)	ATP13A3 (G1024S +1 more)	Single nucleotide variant (missense variant +1 more)	ATP13A3-related condition +1 more	GBenign
Select item 2748214	NM_001367549.1(ATP13A3):c.2667+9A>T	ATP13A3	Single nucleotide variant (intron variant)	ATP13A3-related condition +1 more	GBenign/Likely benign
Select item 3050982	NM_001367549.1(ATP13A3):c.2422-9T>C	ATP13A3	Single nucleotide variant (intron variant)	ATP13A3-related condition	GLikely benign
Select item 1617651	NM_001367549.1(ATP13A3):c.2262T>C (p.Thr754=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3035023	NM_001367549.1(ATP13A3):c.2120+9G>C	ATP13A3	Single nucleotide variant (intron variant)	ATP13A3-related condition	GLikely benign
Select item 1600707	NM_001367549.1(ATP13A3):c.1999+6G>A	ATP13A3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2858951	NM_001367549.1(ATP13A3):c.1774C>T (p.Arg592Cys)	ATP13A3 (R592C +1 more)	Single nucleotide variant (missense variant +1 more)	ATP13A3-related condition +1 more	GBenign
Select item 3033088	NM_001367549.1(ATP13A3):c.1711-6_1711-5dup	ATP13A3	Duplication (intron variant)	ATP13A3-related condition	GLikely benign
Select item 2049067	NM_001367549.1(ATP13A3):c.1584G>A (p.Val528=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	ATP13A3-related condition +1 more	GBenign
Select item 3054379	NM_001367549.1(ATP13A3):c.1560-5C>T	ATP13A3	Single nucleotide variant (intron variant)	ATP13A3-related condition	GLikely benign
Select item 1586803	NM_001367549.1(ATP13A3):c.1113C>T (p.Tyr371=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	ATP13A3-related condition +1 more	GBenign/Likely benign
Select item 3058190	NM_001367549.1(ATP13A3):c.1086G>A (p.Gly362=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	ATP13A3-related condition	GLikely benign
Select item 3057862	NM_001367549.1(ATP13A3):c.1014A>C (p.Ser338=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	ATP13A3-related condition	GLikely benign
Select item 2055537	NM_001367549.1(ATP13A3):c.727A>G (p.Ile243Val)	ATP13A3 (I216V +1 more)	Single nucleotide variant (missense variant +1 more)	ATP13A3-related condition +1 more	GBenign
Select item 1600895	NM_001367549.1(ATP13A3):c.310A>G (p.Asn104Asp)	ATP13A3 (N104D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1638526	NM_001367549.1(ATP13A3):c.279T>C (p.Thr93=)	ATP13A3	Single nucleotide variant (synonymous variant +1 more)	ATP13A3-related condition +1 more	GBenign
Select item 2858952	NM_001367549.1(ATP13A3):c.70T>G (p.Leu24Val)	ATP13A3 (L24V)	Single nucleotide variant (missense variant +1 more)	ATP13A3-related condition +1 more	GBenign

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Items: 21