"Invitae"[submitter] AND "ATP10A"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584203	NC_000015.10:g.(?_24566038)_(25781223_?)del	LINC02250, SNORD115-47 +101 more	Deletion	Angelman syndrome	GPathogenic
Select item 744183	NM_024490.4(ATP10A):c.4406G>A (p.Arg1469His)	ATP10A (R1469H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 741524	NM_024490.4(ATP10A):c.4406G>C (p.Arg1469Pro)	ATP10A (R1469P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 731567	NM_024490.4(ATP10A):c.4275C>G (p.Pro1425=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729418	NM_024490.4(ATP10A):c.3866+10G>A	ATP10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 779272	NM_024490.4(ATP10A):c.3850G>A (p.Ala1284Thr)	ATP10A (A1284T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 709275	NM_024490.4(ATP10A):c.3795G>A (p.Met1265Ile)	ATP10A (M1265I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 722661	NM_024490.4(ATP10A):c.3750G>A (p.Ala1250=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715937	NM_024490.4(ATP10A):c.3750G>T (p.Ala1250=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 740085	NM_024490.4(ATP10A):c.3630C>T (p.Ile1210=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783702	NM_024490.4(ATP10A):c.3592G>A (p.Val1198Met)	ATP10A (V1198M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789330	NM_024490.4(ATP10A):c.3562A>G (p.Ile1188Val)	ATP10A (I1188V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 720963	NM_024490.4(ATP10A):c.3462G>A (p.Pro1154=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709276	NM_024490.4(ATP10A):c.3417G>A (p.Gly1139=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 726137	NM_024490.4(ATP10A):c.3297C>T (p.Phe1099=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747458	NM_024490.4(ATP10A):c.3243C>T (p.Cys1081=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715035	NM_024490.4(ATP10A):c.3000C>T (p.Ser1000=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784534	NM_024490.4(ATP10A):c.2996G>A (p.Arg999His)	ATP10A (R999H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 779743	NM_024490.4(ATP10A):c.2886G>A (p.Thr962=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716405	NM_024490.4(ATP10A):c.2885C>T (p.Thr962Met)	ATP10A (T962M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 756230	NM_024490.4(ATP10A):c.2766G>A (p.Ala922=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781155	NM_024490.4(ATP10A):c.2727C>T (p.Asp909=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727596	NM_024490.4(ATP10A):c.2724C>T (p.His908=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 736134	NM_024490.4(ATP10A):c.2328G>A (p.Leu776=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715051	NM_024490.4(ATP10A):c.2056G>A (p.Glu686Lys)	ATP10A (E686K)	Single nucleotide variant (missense variant)	ATP10A-related condition +1 more	GBenign/Likely benign
Select item 714527	NM_024490.4(ATP10A):c.1867A>G (p.Ser623Gly)	ATP10A (S623G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787113	NM_024490.4(ATP10A):c.1777G>A (p.Val593Met)	ATP10A (V593M)	Single nucleotide variant (missense variant)	ATP10A-related condition +1 more	GBenign
Select item 733822	NM_024490.4(ATP10A):c.1758G>A (p.Pro586=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718567	NM_024490.4(ATP10A):c.1686G>T (p.Ser562=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 731739	NM_024490.4(ATP10A):c.1653G>A (p.Ala551=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 711612	NM_024490.4(ATP10A):c.1596G>A (p.Thr532=)	ATP10A	Single nucleotide variant (synonymous variant)	ATP10A-related condition +1 more	GBenign/Likely benign
Select item 716406	NM_024490.4(ATP10A):c.1527C>T (p.Ala509=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716407	NM_024490.4(ATP10A):c.1511G>A (p.Arg504His)	ATP10A (R504H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714528	NM_024490.4(ATP10A):c.1426G>A (p.Gly476Ser)	ATP10A (G476S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777245	NM_024490.4(ATP10A):c.1365G>T (p.Ala455=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746064	NM_024490.4(ATP10A):c.1364-8C>A	ATP10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 733001	NM_024490.4(ATP10A):c.1259A>T (p.Gln420Leu)	ATP10A (Q420L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 733002	NM_024490.4(ATP10A):c.1258C>A (p.Gln420Lys)	ATP10A (Q420K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 785474	NM_024490.4(ATP10A):c.1134C>T (p.Tyr378=)	ATP10A	Single nucleotide variant (synonymous variant)	ATP10A-related condition +1 more	GBenign
Select item 785475	NM_024490.4(ATP10A):c.1111-9C>G	ATP10A	Single nucleotide variant (intron variant)	ATP10A-related condition +1 more	GBenign
Select item 785476	NM_024490.4(ATP10A):c.1107G>A (p.Leu369=)	ATP10A	Single nucleotide variant (synonymous variant)	ATP10A-related condition +1 more	GBenign
Select item 733528	NM_024490.4(ATP10A):c.1099A>G (p.Ile367Val)	ATP10A (I367V)	Single nucleotide variant (missense variant)	ATP10A-related condition +1 more	GBenign
Select item 712151	NM_024490.4(ATP10A):c.924C>T (p.Cys308=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745417	NM_024490.4(ATP10A):c.576A>T (p.Leu192=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771754	NM_024490.4(ATP10A):c.571G>A (p.Gly191Arg)	ATP10A (G191R)	Single nucleotide variant (missense variant)	ATP10A-related condition +1 more	GBenign/Likely benign
Select item 740688	NM_024490.4(ATP10A):c.528C>T (p.Ile176=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787182	NM_024490.4(ATP10A):c.298G>C (p.Val100Leu)	ATP10A (V100L)	Single nucleotide variant (missense variant)	ATP10A-related condition +1 more	GBenign/Likely benign
Select item 748188	NM_024490.4(ATP10A):c.84C>G (p.Arg28=)	ATP10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2423405	NC_000015.9:g.(?_26107444)_(28230334_?)del	GABRG3, GABRA5 +3 more	Deletion	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GPathogenic
Select item 833345	NC_000015.10:g.(?_25862297)_(26937328_?)del	ATP10A, GABRA5 +1 more	Deletion	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GPathogenic
Select item 832161	NC_000015.10:g.(?_24566038)_(25781223_?)dup	ATP10A, IPW +12 more	Duplication	Angelman syndrome	GLikely pathogenic

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Items: 51