ClinVar for Gene (Select 91647) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362749	NM_145691.4(ATPAF2):c.700G>A (p.Val234Met)	ATPAF2 (V234M)	Single nucleotide variant (missense variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	GUncertain significance
Select item 3330266	NM_145691.4(ATPAF2):c.569A>T (p.Glu190Val)	ATPAF2 (E190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3132089	NM_145691.4(ATPAF2):c.378G>T (p.Gln126His)	ATPAF2 (Q126H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085734	NM_031294.4(DRC3):c.1487G>A (p.Arg496His)	ATPAF2, DRC3 (R496H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085733	NM_031294.4(DRC3):c.1387C>G (p.Leu463Val)	ATPAF2, DRC3 (L463V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3017832	NM_145691.4(ATPAF2):c.426C>T (p.Tyr142=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010051	NM_145691.4(ATPAF2):c.324+15G>A	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004538	NM_145691.4(ATPAF2):c.324+20A>T	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990719	NM_145691.4(ATPAF2):c.179-15A>G	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2969404	NM_145691.4(ATPAF2):c.804C>T (p.Ala268=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2903002	NM_145691.4(ATPAF2):c.128C>T (p.Pro43Leu)	ATPAF2, LOC130060409 (P43L)	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)	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 2843947	NM_145691.4(ATPAF2):c.630A>G (p.Val210=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829923	NM_145691.4(ATPAF2):c.37C>A (p.Arg13Ser)	ATPAF2 (R13S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787955	NM_145691.4(ATPAF2):c.429G>A (p.Arg143=)	ATPAF2	Single nucleotide variant (synonymous 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 2755141	NM_145691.4(ATPAF2):c.330A>T (p.Thr110=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742341	NM_145691.4(ATPAF2):c.134-4dup	ATPAF2	Duplication (intron variant)	not provided	GLikely benign
Select item 2706565	NM_145691.4(ATPAF2):c.307T>A (p.Tyr103Asn)	ATPAF2 (Y103N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685598	GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685597	GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not provided	GPathogenic
Select item 2671583	Single allele	LGALS9C, MIR33B +30 more	Duplication	not provided	GPathogenic
Select item 2647537	NM_031294.4(DRC3):c.1363G>A (p.Gly455Arg)	ATPAF2, DRC3 (G455R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2613944	NM_145691.4(ATPAF2):c.101C>G (p.Pro34Arg)	ATPAF2, LOC130060410 (P34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506529	GRCh37/hg19 17p11.2(chr17:16664739-20370783)	MPRIP, NT5M +49 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 2498730	GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1	LLGL1, MAPK7 +44 more	Copy number loss	not provided	GPathogenic
Select item 2477745	NM_145691.4(ATPAF2):c.65G>T (p.Gly22Val)	ATPAF2, LOC130060410 (G22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462168	NM_031294.4(DRC3):c.1519G>A (p.Asp507Asn)	ATPAF2, DRC3 (D507N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458579	NM_145691.4(ATPAF2):c.379C>G (p.Leu127Val)	ATPAF2 (L127V)	Single nucleotide variant (missense variant)	not specified	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 2428931	NM_145691.4(ATPAF2):c.79A>T (p.Met27Leu)	ATPAF2, LOC130060410 (M27L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425820	NC_000017.10:g.(?_16842861)_(19578885_?)dup	ALDH3A2, ALKBH5 +42 more	Duplication	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 2417980	NM_145691.4(ATPAF2):c.799G>A (p.Ala267Thr)	ATPAF2 (A267T)	Single nucleotide variant (missense variant)	not specified +1 more	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 2346510	NM_031294.4(DRC3):c.1492C>T (p.Arg498Cys)	ATPAF2, DRC3 (R498C)	Single nucleotide variant (missense variant)	not specified	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 2300154	NM_031294.4(DRC3):c.1467G>C (p.Lys489Asn)	DRC3, ATPAF2 (K489N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297151	NM_145691.4(ATPAF2):c.47T>C (p.Leu16Pro)	ATPAF2 (L16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295109	NM_031294.4(DRC3):c.1424G>T (p.Arg475Ile)	ATPAF2, DRC3 (R475I)	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 2187399	NM_145691.4(ATPAF2):c.141G>T (p.Lys47Asn)	ATPAF2 (K47N)	Single nucleotide variant (missense variant)	not specified +1 more	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 2184691	NM_145691.4(ATPAF2):c.313A>G (p.Thr105Ala)	ATPAF2 (T105A)	Single nucleotide variant (missense 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 +1 more	GUncertain significance
Select item 2177782	NM_145691.4(ATPAF2):c.240C>T (p.Thr80=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2141405	NM_145691.4(ATPAF2):c.508G>A (p.Gly170Ser)	ATPAF2 (G170S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132061	NM_145691.4(ATPAF2):c.62G>C (p.Gly21Ala)	ATPAF2, LOC130060410 (G21A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128597	NM_145691.4(ATPAF2):c.178+19del	ATPAF2	Deletion (intron variant)	not provided	GLikely benign
Select item 2114950	NM_145691.4(ATPAF2):c.177_178+4dup	ATPAF2	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2112569	NM_145691.4(ATPAF2):c.586C>T (p.Leu196=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084747	NM_145691.4(ATPAF2):c.394G>A (p.Val132Met)	ATPAF2 (V132M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2081017	NM_145691.4(ATPAF2):c.362A>G (p.Gln121Arg)	ATPAF2 (Q121R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077972	NM_145691.4(ATPAF2):c.183C>A (p.Gly61=)	ATPAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075467	NM_145691.4(ATPAF2):c.80T>C (p.Met27Thr)	ATPAF2, LOC130060410 (M27T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072902	NM_145691.4(ATPAF2):c.418A>G (p.Ile140Val)	ATPAF2 (I140V)	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 2064372	NM_145691.4(ATPAF2):c.577G>T (p.Val193Phe)	ATPAF2 (V193F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2008315	NM_145691.4(ATPAF2):c.249C>A (p.Ser83Arg)	ATPAF2 (S83R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004209	NM_145691.4(ATPAF2):c.721dup (p.Glu241fs)	ATPAF2 (E241fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1987548	NM_145691.4(ATPAF2):c.733-11C>T	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1960049	NM_145691.4(ATPAF2):c.317T>C (p.Met106Thr)	ATPAF2 (M106T)	Single nucleotide variant (missense variant)	not provided	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 1952695	NM_145691.4(ATPAF2):c.616+18T>C	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1943327	NM_145691.4(ATPAF2):c.504A>G (p.Arg168=)	ATPAF2	Single nucleotide variant (synonymous 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 1934210	NM_145691.4(ATPAF2):c.134-6T>C	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1920808	NM_145691.4(ATPAF2):c.616+19G>A	ATPAF2	Single nucleotide variant (intron 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 1911264	NM_145691.4(ATPAF2):c.732+17C>G	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 1899817	NM_145691.4(ATPAF2):c.842_843del (p.Thr281fs)	ATPAF2 (T281fs)	Microsatellite (frameshift 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 1808657	GRCh37/hg19 17p11.2(chr17:17103571-19331028)x3	ALKBH5, ATPAF2 +38 more	Copy number gain	not provided	GPathogenic
Select item 1803479	NM_145691.4(ATPAF2):c.277G>C (p.Glu93Gln)	ATPAF2 (E93Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710929	GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 1706097	NM_145691.4(ATPAF2):c.134A>C (p.Glu45Ala)	ATPAF2 (E45A)	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 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1703566	GRCh37/hg19 17p11.2(chr17:17151140-20187953)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1703565	GRCh37/hg19 17p11.2(chr17:16651292-20286898)	AKAP10, ALDH3A1 +48 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1703554	GRCh37/hg19 17p11.2(chr17:17579860-18469185)	ALKBH5, ATPAF2 +16 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1703553	Single allele	ATPAF2, CCDC144A +17 more	Complex	Potocki-Lupski syndrome	GPathogenic
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 1691032	NM_145691.4(ATPAF2):c.132A>C (p.Thr44=)	ATPAF2, LOC130060409	Single nucleotide variant (synonymous variant)	See cases	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 1675695	GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	ALKBH5, ATPAF2 +48 more	Copy number loss	not provided	GPathogenic
Select item 1664187	NM_145691.4(ATPAF2):c.616+20T>C	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656147	NM_145691.4(ATPAF2):c.422+20G>A	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648270	NM_145691.4(ATPAF2):c.178+17_178+18del	ATPAF2	Deletion (intron variant)	not provided	GLikely benign
Select item 1647749	NM_145691.4(ATPAF2):c.503+16C>T	ATPAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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