"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CCDC168 - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 778699	NM_001146197.3(CCDC168):c.19550A>G (p.Asn6517Ser)	CCDC168 (N6517S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781267	NM_001146197.3(CCDC168):c.15501G>A (p.Ser5167=)	CCDC168	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778700	NM_001146197.3(CCDC168):c.14520T>A (p.Ser4840=)	CCDC168	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773552	NM_001146197.3(CCDC168):c.14283A>G (p.Val4761=)	CCDC168	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781268	NM_001146197.3(CCDC168):c.13726T>C (p.Cys4576Arg)	CCDC168 (C4576R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720960	NM_001146197.3(CCDC168):c.12715G>A (p.Glu4239Lys)	CCDC168 (E4239K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783042	NM_001146197.3(CCDC168):c.6419G>A (p.Arg2140Gln)	CCDC168 (R2140Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717317	NM_001146197.3(CCDC168):c.4594G>T (p.Gly1532Cys)	CCDC168 (G1532C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 795138	NM_001146197.3(CCDC168):c.4240C>T (p.Leu1414Phe)	CCDC168 (L1414F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 795139	NM_001146197.3(CCDC168):c.3962A>G (p.Lys1321Arg)	CCDC168 (K1321R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717318	NM_001146197.3(CCDC168):c.258G>A (p.Arg86=)	CCDC168	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2424668	NC_000013.10:g.(?_102521055)_(103718599_?)del	BIVM, BIVM-ERCC5 +8 more	Deletion	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GPathogenic
Select item 2422806	NC_000013.10:g.(?_100038233)_(103718599_?)dup	BIVM, BIVM-ERCC5 +18 more	Duplication	not provided	GUncertain significance