"GeneDx"[submitter] AND "LOC111162621"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	LOC110121069, LOC110121110 +557 more	Copy number loss	See cases	GPathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 1181950	NM_003722.5(TP63):c.325-20764_325-20753del	TP63, LOC111162621	Deletion (intron variant)	not provided	GBenign
Select item 1261521	NM_003722.5(TP63):c.325-18800T>G	LOC111162621, TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278708	NM_003722.5(TP63):c.325-18743A>G	LOC111162621, TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222215	NM_003722.5(TP63):c.325-18607G>C	LOC111162621, TP63	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1208394	NM_003722.5(TP63):c.325-18571C>T	LOC111162621, TP63	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1241414	NM_003722.5(TP63):c.325-18543_325-18542insAG	LOC111162621, TP63	Insertion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 802034	NM_003722.5(TP63):c.325-18543_325-18542insAGAG	TP63, LOC111162621	Insertion (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 379663	NM_001114980.2(TP63):c.1A>G (p.Met1Val)	LOC111162621, TP63 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic