"PreventionGenetics, part of Exact Sciences"[submitter] AND "ATP13A4"[ - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 734313	NM_032279.4(ATP13A4):c.3497C>T (p.Pro1166Leu)	ATP13A4 (P1166L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 729133	NM_032279.4(ATP13A4):c.3121G>A (p.Val1041Ile)	ATP13A4 (V1041I)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 785077	NM_032279.4(ATP13A4):c.2947C>T (p.Leu983=)	ATP13A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3051923	NM_032279.4(ATP13A4):c.2895G>T (p.Arg965=)	ATP13A4	Single nucleotide variant (synonymous variant)	ATP13A4-related disorder	GLikely benign
Select item 729134	NM_032279.4(ATP13A4):c.2860T>C (p.Tyr954His)	ATP13A4 (Y954H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3057822	NM_032279.4(ATP13A4):c.2247C>T (p.Thr749=)	ATP13A4	Single nucleotide variant (synonymous variant)	ATP13A4-related disorder	GLikely benign
Select item 3056909	NM_032279.4(ATP13A4):c.2119A>G (p.Ile707Val)	ATP13A4 (I707V)	Single nucleotide variant (missense variant)	ATP13A4-related disorder	GBenign
Select item 3047558	NM_032279.4(ATP13A4):c.2111A>C (p.Glu704Ala)	ATP13A4 (E704A)	Single nucleotide variant (missense variant)	ATP13A4-related disorder	GLikely benign
Select item 3043489	NM_032279.4(ATP13A4):c.2083T>C (p.Leu695=)	ATP13A4	Single nucleotide variant (synonymous variant)	ATP13A4-related disorder	GLikely benign
Select item 3039081	NM_032279.4(ATP13A4):c.1974A>T (p.Ile658=)	ATP13A4	Single nucleotide variant (synonymous variant)	ATP13A4-related disorder	GLikely benign
Select item 979154	NM_032279.4(ATP13A4):c.1938A>T (p.Glu646Asp)	ATP13A4 (E646D)	Single nucleotide variant (missense variant)	Central core myopathy +1 more	GBenign
Select item 788401	NM_032279.4(ATP13A4):c.1921A>G (p.Thr641Ala)	ATP13A4 (T641A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3059121	NM_032279.4(ATP13A4):c.1915+7A>G	ATP13A4	Single nucleotide variant (intron variant)	ATP13A4-related disorder	GBenign
Select item 3035372	NM_032279.4(ATP13A4):c.1323G>A (p.Ala441=)	ATP13A4	Single nucleotide variant (synonymous variant)	ATP13A4-related disorder	GLikely benign
Select item 785078	NM_032279.4(ATP13A4):c.1089C>T (p.Thr363=)	ATP13A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3052302	NM_032279.4(ATP13A4):c.1030C>T (p.Arg344Trp)	ATP13A4 (R344W)	Single nucleotide variant (missense variant)	ATP13A4-related disorder	GLikely benign
Select item 3043527	NM_032279.4(ATP13A4):c.840G>A (p.Leu280=)	ATP13A4	Single nucleotide variant (synonymous variant)	ATP13A4-related disorder	GLikely benign
Select item 760378	NM_032279.4(ATP13A4):c.739-9C>G	ATP13A4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3053342	NM_032279.4(ATP13A4):c.687C>T (p.Ile229=)	ATP13A4	Single nucleotide variant (synonymous variant)	ATP13A4-related disorder	GLikely benign
Select item 788776	NM_032279.4(ATP13A4):c.182A>G (p.His61Arg)	ATP13A4 (H61R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3053520	NM_032279.4(ATP13A4):c.27C>T (p.His9=)	ATP13A4, ATP13A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP13A4-related disorder	GLikely benign

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Items: 21