"GeneDx"[submitter] AND "UNC79"[gene] - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 2574551	NM_001395159.1(UNC79):c.1117A>T (p.Lys373Ter)	UNC79 (K196* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2575680	NM_001395159.1(UNC79):c.1583C>T (p.Ala528Val)	UNC79 (A351V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571821	NM_001395159.1(UNC79):c.2078C>A (p.Ser693Ter)	UNC79 (S516* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2575839	NM_001395159.1(UNC79):c.2731dup (p.Glu911fs)	UNC79 (E734fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2575676	NM_001395159.1(UNC79):c.6536del (p.Thr2179fs)	UNC79 (T1930fs +2 more)	Deletion (frameshift variant)	UNC79-related condition +1 more	GUncertain significance
Select item 2571776	NM_001395159.1(UNC79):c.7282A>G (p.Thr2428Ala)	UNC79 (T2179A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance