"GeneDx"[submitter] AND "C10orf55"[gene] - ClinVar - NCBI

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

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 152649	GRCh38/hg38 10q22.2(chr10:73881750-73942272)x1	C10orf55, LOC126860958 +7 more	Copy number loss	See cases	GLikely benign
Select item 1237018	NM_002658.6(PLAU):c.-31-121G>T	C10orf55, LOC130004104 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1240521	NM_002658.6(PLAU):c.85+49G>A	C10orf55, PLAU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287381	NM_002658.6(PLAU):c.193+297_193+298insT	C10orf55, PLAU	Insertion (intron variant)	not provided	GBenign
Select item 1228101	NM_002658.6(PLAU):c.193+298G>T	C10orf55, PLAU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183359	NM_002658.6(PLAU):c.194-207A>G	C10orf55, PLAU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295119	NM_002658.6(PLAU):c.369-87G>A	C10orf55, LOC126860960 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257246	NM_002658.6(PLAU):c.680+80C>T	C10orf55, LOC126860960 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 300752	NM_002658.6(PLAU):c.681-7C>T	C10orf55, LOC126860960 +1 more	Single nucleotide variant (intron variant)	Quebec platelet disorder +1 more	GBenign
Select item 300756	NM_002658.6(PLAU):c.822C>T (p.Asn274=)	C10orf55, LOC126860960 +1 more	Single nucleotide variant (synonymous variant)	Quebec platelet disorder +1 more	GBenign
Select item 1227450	NM_002658.6(PLAU):c.970+66C>T	C10orf55, PLAU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 300765	NM_002658.6(PLAU):c.*141C>T	C10orf55, PLAU	Single nucleotide variant (3 prime UTR variant)	Quebec platelet disorder +1 more	GBenign