ClinVar for MedGen (Select 477906) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 930235	NM_145691.4(ATPAF2):c.98del (p.Ile33fs)	ATPAF2, LOC130060410 (I33fs)	Deletion (frameshift variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GLikely pathogenic
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 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 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 891072	NM_145691.4(ATPAF2):c.-107G>T	ATPAF2, LOC130060411	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 891071	NM_145691.4(ATPAF2):c.-90C>A	ATPAF2, LOC130060411	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 891070	NM_145691.4(ATPAF2):c.-85C>T	ATPAF2, LOC130060411	Single nucleotide variant (5 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 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 890507	NM_145691.4(ATPAF2):c.113G>T (p.Arg38Leu)	ATPAF2 (R38L)	Single nucleotide variant (missense variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 890506	NM_145691.4(ATPAF2):c.422+11T>C	ATPAF2	Single nucleotide variant (intron variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 890505	NM_145691.4(ATPAF2):c.565C>G (p.Arg189Gly)	ATPAF2 (R189G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 635075	NM_145691.4(ATPAF2):c.412G>A (p.Asp138Asn)	ATPAF2 (D138N)	Single nucleotide variant (missense variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 429844	NM_145691.4(ATPAF2):c.8G>A (p.Arg3Lys)	ATPAF2 (R3K)	Single nucleotide variant (missense variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 422342	NM_145691.4(ATPAF2):c.133+1G>T	LOC130060409, ATPAF2	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 322099	NM_145691.4(ATPAF2):c.-147G>A	ATPAF2, LOC130060411	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 +1 more	GBenign/Likely benign
Select item 322098	NM_145691.4(ATPAF2):c.-107G>A	ATPAF2, LOC130060411	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GLikely benign
Select item 322097	NM_145691.4(ATPAF2):c.-1G>T	ATPAF2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 322096	NM_145691.4(ATPAF2):c.250G>A (p.Glu84Lys)	ATPAF2 (E84K)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 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 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 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 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 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 214139	NM_145691.4(ATPAF2):c.389C>A (p.Ala130Glu)	ATPAF2 (A130E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 214135	NM_145691.4(ATPAF2):c.40C>G (p.Arg14Gly)	ATPAF2 (R14G)	Single nucleotide variant (missense variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 +2 more	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 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 136469	NM_145691.4(ATPAF2):c.35G>A (p.Gly12Glu)	ATPAF2 (G12E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 136468	NM_145691.4(ATPAF2):c.738G>A (p.Gln246=)	ATPAF2	Single nucleotide variant (synonymous variant)	ATPAF2-related condition +3 more	GBenign
Select item 136467	NM_145691.4(ATPAF2):c.511G>A (p.Val171Met)	ATPAF2 (V171M)	Single nucleotide variant (missense variant)	ATPAF2-related condition +3 more	GBenign/Likely benign
Select item 136466	NM_145691.4(ATPAF2):c.346T>C (p.Leu116=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1995	NM_145691.4(ATPAF2):c.280T>A (p.Trp94Arg)	ATPAF2 (W94R)	Single nucleotide variant (missense variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GPathogenic

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Items: 44