"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ZSCAN10 - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 723262	NM_032805.3(ZSCAN10):c.2088T>C (p.Gly696=)	ZSCAN10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782408	NM_032805.3(ZSCAN10):c.1436C>A (p.Ser479Tyr)	ZSCAN10 (S85Y +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 775035	NM_032805.3(ZSCAN10):c.834G>A (p.Glu278=)	ZSCAN10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 771012	NM_032805.3(ZSCAN10):c.768G>A (p.Ala256=)	ZSCAN10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 780016	NM_032805.3(ZSCAN10):c.270G>A (p.Glu90=)	ZSCAN10 (A43T)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 779277	NM_032805.3(ZSCAN10):c.120C>G (p.Pro40=)	ZSCAN10	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 768742	NM_032805.3(ZSCAN10):c.28G>C (p.Val10Leu)	ZSCAN10 (V10L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 3243524	NC_000016.9:g.(?_2550259)_(3154076_?)del	AMDHD2, ATP6V0C +26 more	Deletion	Caused by mutation in the TBC1 domain family, member 24 +2 more	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	ABCA3, ADCY9 +170 more	Duplication	Hyperaldosteronism, familial, type IV +3 more	GUncertain significance