"Invitae"[submitter] AND "CCDC140"[gene] - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3012911	NM_181458.4(PAX3):c.85+18C>G	CCDC140, PAX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791415	NM_181458.4(PAX3):c.77C>T (p.Pro26Leu)	CCDC140, PAX3 (P26L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 794135	NM_181458.4(PAX3):c.71G>T (p.Gly24Val)	CCDC140, PAX3 (G24V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2780971	NM_181458.4(PAX3):c.69C>T (p.Ser23=)	CCDC140, PAX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808619	NM_181458.4(PAX3):c.63G>A (p.Pro21=)	CCDC140, PAX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 334562	NM_181458.4(PAX3):c.47C>T (p.Pro16Leu)	CCDC140, PAX3 (P16L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2919319	NM_181458.4(PAX3):c.19G>T (p.Ala7Ser)	CCDC140, PAX3 (A7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700189	NM_181458.4(PAX3):c.16G>C (p.Gly6Arg)	CCDC140, LOC107980445 +1 more (G6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504760	NM_181458.4(PAX3):c.9G>A (p.Thr3=)	CCDC140, LOC107980445 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2427576	NC_000002.11:g.(?_223066643)_(223163334_?)del	CCDC140, PAX3	Deletion	not provided	GPathogenic
Select item 1454649	NC_000002.11:g.(?_223158866)_(223163334_?)del	CCDC140, PAX3	Deletion	not provided	GPathogenic