ClinVar for Gene (Select 126862738) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 1294330	NM_004046.6(ATP5F1A):c.60+114C>T	ATP5F1A, LOC126862738	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1251851	NM_001001937.2(ATP5F1A):c.-48-86T>G	ATP5F1A, LOC126862738	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247068	NM_001001937.2(ATP5F1A):c.-48-89del	ATP5F1A, LOC126862738	Deletion (intron variant)	not provided	GBenign
Select item 1245134	NM_004046.6(ATP5F1A):c.60+251T>C	ATP5F1A, LOC126862738	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1242824	NM_004046.6(ATP5F1A):c.60+345C>T	ATP5F1A, LOC126862738	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189342	NM_001001937.2(ATP5F1A):c.-48-91_-48-89del	ATP5F1A, LOC126862738	Deletion (intron variant)	not provided	GLikely benign
Select item 1186845	NM_004046.6(ATP5F1A):c.60+39G>A	LOC126862738, ATP5F1A	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1182751	NM_004046.6(ATP5F1A):c.60+390A>C	LOC126862738, ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683319	NM_001001937.2(ATP5F1A):c.-48-380C>G	ATP5F1A, LOC126862738	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512557	NM_004046.6(ATP5F1A):c.45T>A (p.Pro15=)	ATP5F1A, LOC126862738	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 512299	NM_004046.6(ATP5F1A):c.-9A>T	ATP5F1A, LOC126862738	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 445307	NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr)	ATP5F1A, LOC126862738 (A9T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 387056	NM_004046.6(ATP5F1A):c.-31C>T	ATP5F1A, LOC126862738	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 383919	NM_004046.6(ATP5F1A):c.-65C>T	ATP5F1A, LOC126862738	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 382276	NM_004046.6(ATP5F1A):c.-39T>C	ATP5F1A, LOC126862738	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 380534	NM_004046.6(ATP5F1A):c.-32G>T	ATP5F1A, LOC126862738	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 380529	NM_004046.6(ATP5F1A):c.-28A>G	ATP5F1A, LOC126862738	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC130062514, LOC130062515 +1089 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 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062369, LOC130062370 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	ACAA2, ADNP2 +887 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 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LOC130062712, LOC130062713 +879 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	LOC126862765, LOC126862766 +596 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LINC01902, LINC01903 +1005 more	Copy number gain	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 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +1642 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 58781	GRCh38/hg38 18q12.3-21.1(chr18:45541699-46697357)x3	ARK2C, ARK2N +35 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC130062608, LOC130062609 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062687, LOC130062688 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC105372173, LOC105372179 +1646 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 48