ATP6AP1L[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 3131842	NR_169870.1(ATP6AP1L):n.1969G>C	ATP6AP1L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2600089	NM_001386093.1(ATP6AP1L):c.392T>C (p.Leu131Ser)	ATP6AP1L (L131S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655573	NM_001386093.1(ATP6AP1L):c.462G>A (p.Leu154=)	ATP6AP1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3329395	NR_169870.1(ATP6AP1L):n.2188A>G	ATP6AP1L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2459629	NM_001386093.1(ATP6AP1L):c.538A>C (p.Thr180Pro)	ATP6AP1L (T180P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655574	NM_001386093.1(ATP6AP1L):c.568T>C (p.Tyr190His)	ATP6AP1L (Y190H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2525106	NM_001386093.1(ATP6AP1L):c.622A>G (p.Ser208Gly)	ATP6AP1L (S208G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220370	NM_001386093.1(ATP6AP1L):c.641C>T (p.Ser214Leu)	ATP6AP1L (S214L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610807	NM_001386093.1(ATP6AP1L):c.647T>C (p.Leu216Pro)	ATP6AP1L (L216P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329392	NR_169868.1(ATP6AP1L):n.1518A>G	ATP6AP1L	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2655575	NM_001386093.1(ATP6AP1L):c.681A>G (p.Gln227=)	ATP6AP1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2390621	NM_001386093.1(ATP6AP1L):c.727G>A (p.Ala243Thr)	ATP6AP1L (A243T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2273503	NM_001386093.1(ATP6AP1L):c.728C>A (p.Ala243Asp)	ATP6AP1L (A243D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131843	NM_001386093.1(ATP6AP1L):c.763G>A (p.Ala255Thr)	ATP6AP1L (A255T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307877	NM_001386093.1(ATP6AP1L):c.808A>C (p.Met270Leu)	ATP6AP1L (M270L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524235	NM_001386093.1(ATP6AP1L):c.872C>T (p.Ser291Leu)	ATP6AP1L (S291L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270746	NM_001386093.1(ATP6AP1L):c.895G>C (p.Ala299Pro)	ATP6AP1L (A299P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684422	GRCh37/hg19 5q14.2(chr5:81437645-81652678)x3	ATG10, ATP6AP1L +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340134	GRCh37/hg19 5q14.1-14.2(chr5:81100844-81742123)x3	ATG10, ATP6AP1L +1 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 25