ATP5IF1[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 148510	GRCh38/hg38 1p35.3(chr1:27919199-28607226)x3	ATP5IF1, DNAJC8 +51 more	Copy number gain	See cases	GUncertain significance
Select item 3131689	NM_016311.5(ATP5IF1):c.47G>T (p.Gly16Val)	ATP5IF1 (G16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131690	NM_016311.5(ATP5IF1):c.83A>G (p.Asp28Gly)	ATP5IF1 (D28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131687	NM_016311.5(ATP5IF1):c.170G>A (p.Arg57Gln)	ATP5IF1 (R57Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131688	NM_016311.5(ATP5IF1):c.313G>T (p.Asp105Tyr)	ATP5IF1 (D105Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685399	GRCh37/hg19 1p35.3(chr1:28493687-28582447)x1	ATP5IF1, DNAJC8 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1340314	GRCh37/hg19 1p35.3(chr1:28493687-29242679)x1	ATP5IF1, DNAJC8 +14 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565083	GRCh37/hg19 1p35.3(chr1:28517625-28633254)x1	PTAFR, ATP5IF1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 253760	GRCh37/hg19 1p35.3(chr1:28292253-28969539)x3	RCC1, EYA3 +12 more	Copy number gain	See cases	GUncertain significance