Related gene-specific medical variations for Gene (Select 55075) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3185349	NM_018003.4(UACA):c.46C>T (p.Pro16Ser)	LOC130057444, UACA (P16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057798	NM_018003.4(UACA):c.60C>T (p.Gly20=)	LOC130057444, UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GLikely benign
Select item 3034788	NM_018003.4(UACA):c.-10A>G	LOC130057444, UACA	Single nucleotide variant (5 prime UTR variant)	UACA-related disorder	GLikely benign
Select item 2509564	NM_018003.4(UACA):c.27G>C (p.Arg9Ser)	LOC130057444, UACA (R9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253735	NM_018003.4(UACA):c.67G>A (p.Ala23Thr)	LOC130057444, UACA (A23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808121	GRCh37/hg19 15q23(chr15:70814037-71028303)x3	UACA	Copy number gain	not provided	GUncertain significance

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