"GeneDx"[submitter] AND "LOC126862738"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 152556	GRCh38/hg38 18q12.3-21.1(chr18:43833480-46144138)x1	LINC01601, LOC110121352 +55 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 1182751	NM_004046.6(ATP5F1A):c.60+390A>C	LOC126862738, ATP5F1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242824	NM_004046.6(ATP5F1A):c.60+345C>T	ATP5F1A, LOC126862738	Single nucleotide variant (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 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 1186845	NM_004046.6(ATP5F1A):c.60+39G>A	LOC126862738, ATP5F1A	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
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 3371414	NM_004046.6(ATP5F1A):c.28G>A (p.Val10Met)	ATP5F1A, LOC126862738 (V10M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 +1 more	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 380529	NM_004046.6(ATP5F1A):c.-28A>G	ATP5F1A, LOC126862738	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
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 380534	NM_004046.6(ATP5F1A):c.-32G>T	ATP5F1A, LOC126862738	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 382276	NM_004046.6(ATP5F1A):c.-39T>C	ATP5F1A, LOC126862738	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	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 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 1189342	NM_001001937.2(ATP5F1A):c.-48-91_-48-89del	ATP5F1A, LOC126862738	Deletion (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

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Items: 21