ATPAF2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 891000	NM_145691.4(ATPAF2):c.*526C>T	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 891001	NM_145691.4(ATPAF2):c.*485G>A	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 322088	NM_145691.4(ATPAF2):c.*456T>C	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GBenign
Select item 322089	NM_145691.4(ATPAF2):c.*378A>T	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 322090	NM_145691.4(ATPAF2):c.*337T>C	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 892222	NM_145691.4(ATPAF2):c.*250C>T	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 322091	NM_145691.4(ATPAF2):c.*194C>A	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 322092	NM_145691.4(ATPAF2):c.*165C>T	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 +1 more	GBenign
Select item 892223	NM_145691.4(ATPAF2):c.*138G>A	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 892224	NM_145691.4(ATPAF2):c.*137C>T	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 322093	NM_145691.4(ATPAF2):c.*132C>T	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 322094	NM_145691.4(ATPAF2):c.*130T>C	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GBenign
Select item 888801	NM_145691.4(ATPAF2):c.*108C>T	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 888802	NM_145691.4(ATPAF2):c.*54C>T	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 888803	NM_145691.4(ATPAF2):c.*26G>C	ATPAF2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 214134	NM_145691.4(ATPAF2):c.*20C>G	ATPAF2	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 813704	NM_145691.4(ATPAF2):c.868T>C (p.Ter290Arg)	ATPAF2	Single nucleotide variant (stop lost)	Microcephaly	GUncertain significance
Select item 2307095	NM_145691.4(ATPAF2):c.863A>G (p.Lys288Arg)	ATPAF2 (K288R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1959697	NM_145691.4(ATPAF2):c.855G>T (p.Lys285Asn)	ATPAF2 (K285N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899817	NM_145691.4(ATPAF2):c.842_843del (p.Thr281fs)	ATPAF2 (T281fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2177967	NM_145691.4(ATPAF2):c.832G>A (p.Glu278Lys)	ATPAF2 (E278K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186651	NM_145691.4(ATPAF2):c.831C>T (p.Ser277=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511674	NM_145691.4(ATPAF2):c.821A>G (p.His274Arg)	ATPAF2 (H274R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 747244	NM_145691.4(ATPAF2):c.805G>A (p.Gly269Ser)	ATPAF2 (G269S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2969404	NM_145691.4(ATPAF2):c.804C>T (p.Ala268=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214138	NM_145691.4(ATPAF2):c.802G>A (p.Ala268Thr)	ATPAF2 (A268T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2417980	NM_145691.4(ATPAF2):c.799G>A (p.Ala267Thr)	ATPAF2 (A267T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1449714	NM_145691.4(ATPAF2):c.794G>A (p.Arg265His)	ATPAF2 (R265H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702791	NM_145691.4(ATPAF2):c.793C>T (p.Arg265Cys)	ATPAF2 (R265C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704731	NM_145691.4(ATPAF2):c.790G>A (p.Ala264Thr)	ATPAF2 (A264T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214137	NM_145691.4(ATPAF2):c.785T>C (p.Leu262Pro)	ATPAF2 (L262P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 523905	NM_145691.4(ATPAF2):c.778C>T (p.Gln260Ter)	ATPAF2 (Q260*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 136468	NM_145691.4(ATPAF2):c.738G>A (p.Gln246=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1987548	NM_145691.4(ATPAF2):c.733-11C>T	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182857	NM_145691.4(ATPAF2):c.733-125C>T	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296523	NM_145691.4(ATPAF2):c.733-161G>A	ATPAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190821	NM_145691.4(ATPAF2):c.733-200T>C	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669692	NM_145691.4(ATPAF2):c.733-215G>A	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669691	NM_145691.4(ATPAF2):c.733-280C>T	ATPAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213359	NM_145691.4(ATPAF2):c.733-317A>C	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669690	NM_145691.4(ATPAF2):c.732+301C>A	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911264	NM_145691.4(ATPAF2):c.732+17C>G	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2004209	NM_145691.4(ATPAF2):c.721dup (p.Glu241fs)	ATPAF2 (E241fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 214133	NM_145691.4(ATPAF2):c.722A>G (p.Glu241Gly)	ATPAF2 (E241G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1560864	NM_145691.4(ATPAF2):c.714C>A (p.Arg238=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1032471	NM_145691.4(ATPAF2):c.713G>A (p.Arg238His)	ATPAF2 (R238H)	Single nucleotide variant (missense variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2959651	NM_145691.4(ATPAF2):c.712C>T (p.Arg238Cys)	ATPAF2 (R238C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 388879	NM_145691.4(ATPAF2):c.705G>A (p.Leu235=)	ATPAF2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 284236	NM_145691.4(ATPAF2):c.699C>T (p.Ala233=)	ATPAF2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 618543	NM_145691.4(ATPAF2):c.680G>A (p.Arg227His)	ATPAF2 (R227H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2970474	NM_145691.4(ATPAF2):c.679C>T (p.Arg227Cys)	ATPAF2 (R227C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939702	NM_145691.4(ATPAF2):c.676C>T (p.Leu226=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551318	NM_145691.4(ATPAF2):c.667C>T (p.Leu223=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918453	NM_145691.4(ATPAF2):c.650T>C (p.Met217Thr)	ATPAF2 (M217T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951547	NM_145691.4(ATPAF2):c.649A>G (p.Met217Val)	ATPAF2 (M217V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071014	NM_145691.4(ATPAF2):c.642C>T (p.Leu214=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371739	NM_145691.4(ATPAF2):c.635C>T (p.Ala212Val)	ATPAF2 (A212V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 322095	NM_145691.4(ATPAF2):c.634G>T (p.Ala212Ser)	ATPAF2 (A212S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2843947	NM_145691.4(ATPAF2):c.630A>G (p.Val210=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214132	NM_145691.4(ATPAF2):c.627T>G (p.Phe209Leu)	ATPAF2 (F209L)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 673656	NM_145691.4(ATPAF2):c.616+237T>G	ATPAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669688	NM_145691.4(ATPAF2):c.616+191T>C	ATPAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296512	NM_145691.4(ATPAF2):c.616+156A>G	ATPAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676296	NM_145691.4(ATPAF2):c.616+103A>G	ATPAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1664187	NM_145691.4(ATPAF2):c.616+20T>C	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920808	NM_145691.4(ATPAF2):c.616+19G>A	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1952695	NM_145691.4(ATPAF2):c.616+18T>C	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909630	NM_145691.4(ATPAF2):c.597C>T (p.Tyr199=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2112569	NM_145691.4(ATPAF2):c.586C>T (p.Leu196=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3132090	NM_145691.4(ATPAF2):c.577G>A (p.Val193Ile)	ATPAF2 (V193I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287589	NM_145691.4(ATPAF2):c.577G>C (p.Val193Leu)	ATPAF2 (V193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2064372	NM_145691.4(ATPAF2):c.577G>T (p.Val193Phe)	ATPAF2 (V193F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214136	NM_145691.4(ATPAF2):c.566G>C (p.Arg189Pro)	ATPAF2 (R189P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214131	NM_145691.4(ATPAF2):c.566G>A (p.Arg189Gln)	ATPAF2 (R189Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164540	NM_145691.4(ATPAF2):c.565C>T (p.Arg189Trp)	ATPAF2 (R189W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 890505	NM_145691.4(ATPAF2):c.565C>G (p.Arg189Gly)	ATPAF2 (R189G)	Single nucleotide variant (missense variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 739830	NM_145691.4(ATPAF2):c.546C>T (p.Pro182=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869172	NM_145691.4(ATPAF2):c.540G>A (p.Met180Ile)	ATPAF2 (M180I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932784	NM_145691.4(ATPAF2):c.529A>G (p.Thr177Ala)	ATPAF2 (T177A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439406	NM_145691.4(ATPAF2):c.511G>T (p.Val171Leu)	ATPAF2 (V171L)	Single nucleotide variant (missense variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 136467	NM_145691.4(ATPAF2):c.511G>A (p.Val171Met)	ATPAF2 (V171M)	Single nucleotide variant (missense variant)	ATPAF2-related disorder +3 more	GBenign/Likely benign
Select item 2141405	NM_145691.4(ATPAF2):c.508G>A (p.Gly170Ser)	ATPAF2 (G170S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896375	NM_145691.4(ATPAF2):c.507C>T (p.Tyr169=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943327	NM_145691.4(ATPAF2):c.504A>G (p.Arg168=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1201971	NM_145691.4(ATPAF2):c.504-51G>T	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187541	NM_145691.4(ATPAF2):c.504-256G>A	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210916	NM_145691.4(ATPAF2):c.504-265C>T	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260486	NM_145691.4(ATPAF2):c.503+269C>T	ATPAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1647749	NM_145691.4(ATPAF2):c.503+16C>T	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784783	NM_145691.4(ATPAF2):c.503+5G>C	ATPAF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1963551	NM_145691.4(ATPAF2):c.487G>A (p.Glu163Lys)	ATPAF2 (E163K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 750966	NM_145691.4(ATPAF2):c.483C>A (p.Ile161=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1027768	NM_145691.4(ATPAF2):c.480A>C (p.Pro160=)	ATPAF2	Single nucleotide variant (synonymous variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 1687661	NM_145691.4(ATPAF2):c.451G>A (p.Val151Met)	ATPAF2 (V151M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412850	NM_145691.4(ATPAF2):c.442G>A (p.Glu148Lys)	ATPAF2 (E148K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901817	NM_145691.4(ATPAF2):c.441C>T (p.Pro147=)	ATPAF2	Single nucleotide variant (synonymous variant)	ATPAF2-related disorder +1 more	GLikely benign
Select item 2787955	NM_145691.4(ATPAF2):c.429G>A (p.Arg143=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017832	NM_145691.4(ATPAF2):c.426C>T (p.Tyr142=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 673034	NM_145691.4(ATPAF2):c.422+206T>A	ATPAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1656147	NM_145691.4(ATPAF2):c.422+20G>A	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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