ATP5F1A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 59960	GRCh38/hg38 18q12.2-21.1(chr18:36859191-47164436)x1	ARK2C, ARK2N +119 more	Copy number loss	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 154629	GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1	ARK2C, ARK2N +147 more	Copy number loss	See cases	GPathogenic
Select item 147605	GRCh38/hg38 18q12.3-21.1(chr18:42335174-46726460)x1	ARK2C, ARK2N +74 more	Copy number loss	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 152556	GRCh38/hg38 18q12.3-21.1(chr18:43833480-46144138)x1	LINC01601, LOC110121352 +55 more	Copy number loss	See cases	GPathogenic
Select item 58781	GRCh38/hg38 18q12.3-21.1(chr18:45541699-46697357)x3	ARK2C, ARK2N +35 more	Copy number gain	See cases	GPathogenic
Select item 1255357	NM_004046.6(ATP5F1A):c.*286G>T	ATP5F1A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1239941	NM_004046.6(ATP5F1A):c.*286del	ATP5F1A	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1263382	NM_004046.6(ATP5F1A):c.*133A>G	ATP5F1A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1199822	NM_004046.6(ATP5F1A):c.*75G>T	ATP5F1A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 1991819	NM_004046.6(ATP5F1A):c.1635A>G (p.Thr545=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 382983	NM_004046.6(ATP5F1A):c.1581-20C>T	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1202016	NM_004046.6(ATP5F1A):c.1581-23G>A	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201248	NM_004046.6(ATP5F1A):c.1580+23C>A	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1682741	NM_004046.6(ATP5F1A):c.1580+19G>C	ATP5F1A	Single nucleotide variant (intron 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 2873772	NM_004046.6(ATP5F1A):c.1580+15G>C	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2067353	NM_004046.6(ATP5F1A):c.1580+9G>A	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1682742	NM_004046.6(ATP5F1A):c.1578C>T (p.Ile526=)	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 3014713	NM_004046.6(ATP5F1A):c.1571G>A (p.Gly524Asp)	ATP5F1A (G502D +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 389799	NM_004046.6(ATP5F1A):c.1567T>C (p.Leu523=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 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 593225	NM_004046.6(ATP5F1A):c.1502C>T (p.Pro501Leu)	ATP5F1A (P501L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1682743	NM_004046.6(ATP5F1A):c.1459G>A (p.Val487Ile)	ATP5F1A (V437I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 683338	NM_004046.6(ATP5F1A):c.1430-183_1430-182del	ATP5F1A	Deletion (intron variant)	not provided	GBenign
Select item 1236688	NM_004046.6(ATP5F1A):c.1430-232del	ATP5F1A	Deletion (intron variant)	not provided	GBenign
Select item 1202977	NM_004046.6(ATP5F1A):c.1429+287T>G	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255026	NM_004046.6(ATP5F1A):c.1429+201G>A	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235094	NM_004046.6(ATP5F1A):c.1429+165dup	ATP5F1A	Duplication (intron variant)	not provided	GBenign
Select item 1181248	NM_004046.6(ATP5F1A):c.1429+97G>A	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382982	NM_004046.6(ATP5F1A):c.1429+19C>A	ATP5F1A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2983038	NM_004046.6(ATP5F1A):c.1401A>G (p.Leu467=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3369259	NM_004046.6(ATP5F1A):c.1391G>C (p.Gly464Ala)	ATP5F1A (G414A +2 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 2901235	NM_004046.6(ATP5F1A):c.1359C>T (p.Leu453=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164592	NM_004046.6(ATP5F1A):c.1347C>T (p.Phe449=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3349953	NM_004046.6(ATP5F1A):c.1317G>A (p.Gln439=)	ATP5F1A	Single nucleotide variant (synonymous variant)	ATP5F1A-related disorder	GLikely benign
Select item 2751728	NM_004046.6(ATP5F1A):c.1290A>G (p.Ala430=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1969869	NM_004046.6(ATP5F1A):c.1285-13T>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 1250112	NM_004046.6(ATP5F1A):c.1284+49_1285-58del	ATP5F1A	Deletion (intron variant)	not provided	GBenign
Select item 1201637	NM_004046.6(ATP5F1A):c.1284+44T>C	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 385017	NM_004046.6(ATP5F1A):c.1257C>A (p.Ser419=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 382584	NM_004046.6(ATP5F1A):c.1257C>T (p.Ser419=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 3034292	NM_004046.6(ATP5F1A):c.1233T>C (p.Gly411=)	ATP5F1A	Single nucleotide variant (synonymous variant)	ATP5F1A-related disorder	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 1682744	NM_004046.6(ATP5F1A):c.1214G>A (p.Arg405His)	ATP5F1A (R355H +2 more)	Single nucleotide variant (missense variant)	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)	Inborn genetic diseases +1 more	GUncertain significance
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 2991150	NM_004046.6(ATP5F1A):c.1205A>G (p.Lys402Arg)	ATP5F1A (K352R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2764793	NM_004046.6(ATP5F1A):c.1177-20C>A	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 385798	NM_004046.6(ATP5F1A):c.1177-20C>T	ATP5F1A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1218530	NM_004046.6(ATP5F1A):c.1177-23G>A	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318624	NM_004046.6(ATP5F1A):c.1177-32C>T	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208405	NM_004046.6(ATP5F1A):c.1177-134G>A	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292245	NM_004046.6(ATP5F1A):c.1177-147T>C	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213590	NM_004046.6(ATP5F1A):c.1177-168C>T	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245675	NM_004046.6(ATP5F1A):c.1177-243_1177-241del	ATP5F1A	Deletion (intron variant)	not provided	GBenign
Select item 683334	NM_004046.6(ATP5F1A):c.1176+200A>G	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683333	NM_004046.6(ATP5F1A):c.1176+188G>A	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232685	NM_004046.6(ATP5F1A):c.1176+113A>G	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193889	NM_004046.6(ATP5F1A):c.1176+81A>G	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181541	NM_004046.6(ATP5F1A):c.1176+75A>G	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268935	NM_004046.6(ATP5F1A):c.1176+22G>T	ATP5F1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 514390	NM_004046.6(ATP5F1A):c.1176+5T>G	ATP5F1A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 429464	NM_004046.6(ATP5F1A):c.1176+1G>C	ATP5F1A	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1334364	NM_004046.6(ATP5F1A):c.1171G>A (p.Gly391Arg)	ATP5F1A (G341R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008406	NM_004046.6(ATP5F1A):c.1170C>T (p.Asp390=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1320400	NM_004046.6(ATP5F1A):c.1162A>G (p.Ile388Val)	ATP5F1A (I338V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3050416	NM_004046.6(ATP5F1A):c.1149A>G (p.Thr383=)	ATP5F1A	Single nucleotide variant (synonymous variant)	ATP5F1A-related disorder	GLikely benign
Select item 3009236	NM_004046.6(ATP5F1A):c.1140C>T (p.Tyr380=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914753	NM_004046.6(ATP5F1A):c.1077T>C (p.Phe359=)	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 2735504	NM_004046.6(ATP5F1A):c.1041G>T (p.Arg347=)	ATP5F1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1321065	NM_004046.6(ATP5F1A):c.1037C>T (p.Ser346Phe)	ATP5F1A (S296F +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 3369520	NM_004046.6(ATP5F1A):c.1025T>G (p.Phe342Cys)	ATP5F1A (F292C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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