"GeneDx"[submitter] AND "SLMO2-ATP5E"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 680912	NM_006886.4(ATP5F1E):c.117T>A (p.Ser39=)	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 680911	NM_006886.4(ATP5F1E):c.114T>C (p.Thr38=)	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1316129	NM_006886.4(ATP5F1E):c.86C>A (p.Thr29Lys)	ATP5F1E, SLMO2-ATP5E (T29K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 677602	NM_006886.4(ATP5F1E):c.33-65A>T	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320592	NM_006886.4(ATP5F1E):c.33-163G>A	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683340	NM_006886.4(ATP5F1E):c.32+304T>C	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 136462	NM_006886.4(ATP5F1E):c.32+15C>T	ATP5F1E, LOC130066277 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 214130	NM_006886.4(ATP5F1E):c.11A>C (p.Tyr4Ser)	ATP5F1E, LOC130066277 +1 more (Y4S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136461	NM_006886.4(ATP5F1E):c.-7C>G	LOC130066277, SLMO2-ATP5E +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 136460	NM_006886.4(ATP5F1E):c.-25C>T	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 515011	NM_006886.4(ATP5F1E):c.-45G>A	ATP5F1E, LOC130066278 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 136459	NM_006886.4(ATP5F1E):c.-46C>T	ATP5F1E, LOC130066278 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 384695	NM_006886.4(ATP5F1E):c.-47C>T	ATP5F1E, LOC130066278 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1269045	NM_006886.4(ATP5F1E):c.-57G>A	ATP5F1E, LOC130066278 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1249837	NC_000020.11:g.59032394C>A	ATP5F1E, LOC130066278 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1318322	NC_000020.11:g.59032558_59032559dup	ATP5F1E, LOC130066278 +1 more	Duplication	not provided	GLikely benign
Select item 1246127	NC_000020.11:g.59032590G>C	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant	not provided	GBenign
Select item 1281188	NC_000020.11:g.59032613C>T	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant	not provided	GBenign