Related gene-specific medical variations for Gene (Select 57578) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360600	NM_001395159.1(UNC79):c.6635del (p.Asn2212fs)	UNC79 (N1963fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3360309	NM_001395159.1(UNC79):c.4064G>T (p.Arg1355Leu)	UNC79 (R1156L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3269064	NM_182971.3(COX8C):c.31C>T (p.Arg11Cys)	COX8C, UNC79 (R11C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269063	NM_182971.3(COX8C):c.41A>G (p.Tyr14Cys)	COX8C, UNC79 (Y14C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076491	NM_182971.3(COX8C):c.14G>A (p.Arg5His)	COX8C, UNC79 (R5H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370991	NM_182971.3(COX8C):c.158C>T (p.Thr53Met)	COX8C, UNC79 (T53M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2288717	NM_182971.3(COX8C):c.28G>T (p.Ala10Ser)	COX8C, UNC79 (A10S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260440	NM_182971.3(COX8C):c.202C>A (p.Gln68Lys)	COX8C, UNC79 (Q68K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 393779	GRCh37/hg19 14q32.12(chr14:93813573-93814549)x3	COX8C, UNC79	Copy number gain	See cases	GLikely benign