ClinVar for Gene (Select 498) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3131653	NM_004046.6(ATP5F1A):c.79G>A (p.Gly27Ser)	ATP5F1A (G27S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3131652	NM_004046.6(ATP5F1A):c.449T>C (p.Val150Ala)	ATP5F1A (V100A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3131651	NM_004046.6(ATP5F1A):c.313A>G (p.Met105Val)	ATP5F1A (M105V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131650	NM_004046.6(ATP5F1A):c.160A>G (p.Ile54Val)	ATP5F1A (I54V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131649	NM_004046.6(ATP5F1A):c.1364C>G (p.Ala455Gly)	ATP5F1A (A433G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063562	GRCh37/hg19 18q12.2-21.1(chr18:36823620-44030870)x1	ARK2C, ARK2N +11 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063545	GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1	ARK2C, ARK2N +29 more	Copy number loss	not specified	GPathogenic
Select item 3054757	NM_004046.6(ATP5F1A):c.915A>G (p.Lys305=)	ATP5F1A	Single nucleotide variant (synonymous variant)	ATP5F1A-related condition	GLikely benign
Select item 3050416	NM_004046.6(ATP5F1A):c.1149A>G (p.Thr383=)	ATP5F1A	Single nucleotide variant (synonymous variant)	ATP5F1A-related condition	GLikely benign
Select item 3047241	NM_004046.6(ATP5F1A):c.39C>T (p.Ala13=)	ATP5F1A, LOC126862738	Single nucleotide variant (5 prime UTR variant +1 more)	ATP5F1A-related condition	GLikely benign
Select item 3034292	NM_004046.6(ATP5F1A):c.1233T>C (p.Gly411=)	ATP5F1A	Single nucleotide variant (synonymous variant)	ATP5F1A-related condition	GLikely benign
Select item 3014713	NM_004046.6(ATP5F1A):c.1571G>A (p.Gly524Asp)	ATP5F1A (G502D +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3009236	NM_004046.6(ATP5F1A):c.1140C>T (p.Tyr380=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008406	NM_004046.6(ATP5F1A):c.1170C>T (p.Asp390=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991472	NM_004046.6(ATP5F1A):c.1360G>A (p.Asp454Asn)	ATP5F1A (D404N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991150	NM_004046.6(ATP5F1A):c.1205A>G (p.Lys402Arg)	ATP5F1A (K352R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983038	NM_004046.6(ATP5F1A):c.1401A>G (p.Leu467=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975274	NM_004046.6(ATP5F1A):c.1580+16_1580+18del	ATP5F1A	Microsatellite (intron variant)	not provided	GBenign
Select item 2973794	NM_004046.6(ATP5F1A):c.1546G>A (p.Val516Ile)	ATP5F1A (V466I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968469	NM_004046.6(ATP5F1A):c.1360G>C (p.Asp454His)	ATP5F1A (D454H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2961562	NM_004046.6(ATP5F1A):c.56G>A (p.Gly19Glu)	ATP5F1A, LOC126862738 (G19E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2914753	NM_004046.6(ATP5F1A):c.1077T>C (p.Phe359=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2914618	NM_004046.6(ATP5F1A):c.531C>T (p.Pro177=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904196	NM_004046.6(ATP5F1A):c.15C>T (p.Arg5=)	ATP5F1A, LOC126862738	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2901235	NM_004046.6(ATP5F1A):c.1359C>T (p.Leu453=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873772	NM_004046.6(ATP5F1A):c.1580+15G>C	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865097	NM_004046.6(ATP5F1A):c.1285-18G>C	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864960	NM_004046.6(ATP5F1A):c.406G>A (p.Ala136Thr)	ATP5F1A (A136T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855626	NM_004046.6(ATP5F1A):c.693T>C (p.Arg231=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826550	NM_004046.6(ATP5F1A):c.1227C>T (p.Asn409=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820818	NM_004046.6(ATP5F1A):c.310-4G>T	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813997	NM_004046.6(ATP5F1A):c.792A>G (p.Thr264=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791903	NM_004046.6(ATP5F1A):c.10G>A (p.Val4Met)	ATP5F1A, LOC126862738 (V4M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2769502	NM_004046.6(ATP5F1A):c.815C>G (p.Thr272Ser)	ATP5F1A (T272S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768054	NM_004046.6(ATP5F1A):c.140-5C>T	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2764793	NM_004046.6(ATP5F1A):c.1177-20C>A	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2753087	NM_004046.6(ATP5F1A):c.894G>C (p.Glu298Asp)	ATP5F1A (E248D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751728	NM_004046.6(ATP5F1A):c.1290A>G (p.Ala430=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735504	NM_004046.6(ATP5F1A):c.1041G>T (p.Arg347=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2688648	NM_004046.6(ATP5F1A):c.389T>C (p.Ile130Thr)	ATP5F1A (I130T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2685619	GRCh37/hg19 18q21.1(chr18:43650248-43748424)x1	ATP5F1A, HAUS1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2662900	NM_004046.6(ATP5F1A):c.1657G>A (p.Ala553Thr)	ATP5F1A (A503T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661959	NM_004046.6(ATP5F1A):c.200A>T (p.Asp67Val)	ATP5F1A (D17V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580224	NM_004046.6(ATP5F1A):c.326T>C (p.Leu109Ser)	ATP5F1A (L109S +1 more)	Single nucleotide variant (missense variant)	Mitochondrial disease	GUncertain significance
Select item 2574476	NM_004046.6(ATP5F1A):c.1028A>G (p.Tyr343Cys)	ATP5F1A (Y293C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572074	NM_004046.6(ATP5F1A):c.1252G>A (p.Gly418Arg)	ATP5F1A (G368R +2 more)	Single nucleotide variant (missense variant)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A	GLikely pathogenic
Select item 2503212	NM_004046.6(ATP5F1A):c.563_564inv (p.Pro188Leu)	ATP5F1A (P138L +2 more)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2489042	NM_004046.6(ATP5F1A):c.1285G>T (p.Val429Leu)	ATP5F1A (V379L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479417	NM_004046.6(ATP5F1A):c.446G>A (p.Arg149His)	ATP5F1A (R99H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459715	NM_004046.6(ATP5F1A):c.505C>T (p.Arg169Cys)	ATP5F1A (R147C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446551	NM_004046.6(ATP5F1A):c.503C>T (p.Thr168Met)	ATP5F1A (T118M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2426180	NC_000018.9:g.(?_42281312)_(44236996_?)del	ARK2C, ARK2N +9 more	Deletion	not provided	GPathogenic
Select item 2423452	NC_000018.9:g.(?_43664248)_(43678197_?)del	ATP5F1A	Deletion	not provided	GUncertain significance
Select item 2191599	NM_004046.6(ATP5F1A):c.249C>G (p.Arg83=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2182562	NM_004046.6(ATP5F1A):c.1069G>A (p.Asp357Asn)	ATP5F1A (D307N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177979	NM_004046.6(ATP5F1A):c.504G>A (p.Thr168=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175708	NM_004046.6(ATP5F1A):c.112G>A (p.Ala38Thr)	ATP5F1A (A38T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2174285	NM_004046.6(ATP5F1A):c.76T>G (p.Leu26Val)	ATP5F1A (L26V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2164592	NM_004046.6(ATP5F1A):c.1347C>T (p.Phe449=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2105564	NM_004046.6(ATP5F1A):c.789T>C (p.Leu263=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092052	NM_004046.6(ATP5F1A):c.1206A>T (p.Lys402Asn)	ATP5F1A (K380N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090508	NM_004046.6(ATP5F1A):c.890G>C (p.Gly297Ala)	ATP5F1A (G247A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067353	NM_004046.6(ATP5F1A):c.1580+9G>A	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2056715	NM_004046.6(ATP5F1A):c.38C>G (p.Ala13Gly)	ATP5F1A, LOC126862738 (A13G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2046885	NM_004046.6(ATP5F1A):c.520C>G (p.Leu174Val)	ATP5F1A (L124V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2011117	NM_004046.6(ATP5F1A):c.60+17G>A	ATP5F1A, LOC126862738	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2010594	NM_004046.6(ATP5F1A):c.1541A>G (p.His514Arg)	ATP5F1A (H464R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000746	NM_004046.6(ATP5F1A):c.641G>A (p.Arg214Gln)	ATP5F1A (R192Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991819	NM_004046.6(ATP5F1A):c.1635A>G (p.Thr545=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977315	NM_004046.6(ATP5F1A):c.691C>T (p.Arg231Cys)	ATP5F1A (R209C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969869	NM_004046.6(ATP5F1A):c.1285-13T>C	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950617	NM_004046.6(ATP5F1A):c.146C>T (p.Ala49Val)	ATP5F1A (A49V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1947080	NM_004046.6(ATP5F1A):c.140-6C>T	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945916	NM_004046.6(ATP5F1A):c.502A>G (p.Thr168Ala)	ATP5F1A (T118A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937008	NM_004046.6(ATP5F1A):c.692G>A (p.Arg231His)	ATP5F1A (R181H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929030	NM_004046.6(ATP5F1A):c.16G>T (p.Val6Phe)	ATP5F1A, LOC126862738 (V6F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1927666	NM_004046.6(ATP5F1A):c.1210A>G (p.Ile404Val)	ATP5F1A (I354V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1920598	NM_004046.6(ATP5F1A):c.309+4A>G	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1920223	NM_004046.6(ATP5F1A):c.191C>G (p.Thr64Ser)	ATP5F1A (T14S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919155	NM_004046.6(ATP5F1A):c.936C>T (p.Asp312=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918815	NM_004046.6(ATP5F1A):c.44_46del (p.Pro15del)	ATP5F1A, LOC126862738 (P15del)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1915275	NM_004046.6(ATP5F1A):c.800-11T>C	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910537	NM_004046.6(ATP5F1A):c.249C>T (p.Arg83=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907418	NM_004046.6(ATP5F1A):c.519T>G (p.Gly173=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903321	NM_004046.6(ATP5F1A):c.846T>C (p.Ala282=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903004	NM_004046.6(ATP5F1A):c.484-13dup	ATP5F1A	Duplication (intron variant)	not provided	GBenign
Select item 1901881	NM_004046.6(ATP5F1A):c.745A>G (p.Ile249Val)	ATP5F1A (I199V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1900901	NM_004046.6(ATP5F1A):c.172C>T (p.Arg58Cys)	ATP5F1A (R8C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1900454	NM_004046.6(ATP5F1A):c.696C>T (p.Phe232=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1723081	NM_004046.6(ATP5F1A):c.1577T>A (p.Ile526Asn)	ATP5F1A (I476N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722873	NM_004046.6(ATP5F1A):c.1512T>G (p.Ile504Met)	ATP5F1A (I454M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701339	NM_004046.6(ATP5F1A):c.604A>G (p.Ile202Val)	ATP5F1A (I152V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690648	NM_004046.6(ATP5F1A):c.992C>T (p.Pro331Leu)	ATP5F1A (P281L +2 more)	Single nucleotide variant (missense variant)	ATP5F1A-related condition	GUncertain significance
Select item 1682749	NM_004046.6(ATP5F1A):c.7T>C (p.Ser3Pro)	ATP5F1A, LOC126862738 (S3P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1682748	NM_004046.6(ATP5F1A):c.23C>T (p.Ala8Val)	ATP5F1A, LOC126862738 (A8V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1682747	NM_004046.6(ATP5F1A):c.330A>G (p.Glu110=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1682746	NM_004046.6(ATP5F1A):c.473T>C (p.Ile158Thr)	ATP5F1A (I108T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682745	NM_004046.6(ATP5F1A):c.739G>A (p.Val247Ile)	ATP5F1A (V197I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1682744	NM_004046.6(ATP5F1A):c.1214G>A (p.Arg405His)	ATP5F1A (R355H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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