Related gene-specific medical variations for Gene (Select 7547) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064809	NM_003413.4(ZIC3):c.1107T>A (p.Phe369Leu)	ZIC3 (F369L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GLikely pathogenic
Select item 1810323	GRCh37/hg19 Xq26.3(chrX:136647475-136892054)x3	ZIC3	Copy number gain	X-linked acrogigantism due to Xq26 microduplication	Gnot provided
Select item 1526857	GRCh37/hg19 Xq26.3(chrX:136533974-137532427)	ZIC3	Copy number gain	not specified	GUncertain significance
Select item 279591	NM_003413.4(ZIC3):c.764G>C (p.Trp255Ser)	ZIC3 (W255S)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GLikely pathogenic
Select item 259049	NM_003413.4(ZIC3):c.783G>A (p.Leu261=)	ZIC3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 239538	NM_003413.3(ZIC3):c.-505-?_*2030+?dup	ZIC3	Duplication	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 216089	NM_003413.3(ZIC3):c.(?_-1)_(*1_?)del	ZIC3	Deletion	Heterotaxy, visceral, 1, X-linked	GPathogenic

ClinVar