Related gene-specific medical variations for Gene (Select 498) - ClinVar

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Items: 29

	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 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 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 808392	NM_004046.6(ATP5F1A):c.437T>A (p.Leu146Gln)	ATP5F1A (L96Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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

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Links from Gene

Items: 29