ClinVar for MedGen (Select 1785846) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064998	NM_018671.5(UNC45A):c.1500+1G>A	UNC45A	Single nucleotide variant (splice donor variant)	Osteootohepatoenteric syndrome	GUncertain significance
Select item 3062256	NM_018671.5(UNC45A):c.213+1G>C	UNC45A	Single nucleotide variant (splice donor variant)	Osteootohepatoenteric syndrome	GLikely pathogenic
Select item 3061788	NM_018671.5(UNC45A):c.2512G>C (p.Ala838Pro)	RCCD1-AS1, UNC45A (A693P +1 more)	Single nucleotide variant (missense variant)	Osteootohepatoenteric syndrome	GPathogenic
Select item 3061787	NM_018671.5(UNC45A):c.1451_1452insG (p.Asp484fs)	UNC45A (D339fs +2 more)	Insertion (frameshift variant)	Osteootohepatoenteric syndrome	GPathogenic
Select item 3061786	NM_018671.5(UNC45A):c.2182G>A (p.Glu728Lys)	UNC45A (E583K +1 more)	Single nucleotide variant (missense variant)	Osteootohepatoenteric syndrome	GPathogenic
Select item 3061785	NM_018671.5(UNC45A):c.721C>T (p.Arg241Ter)	UNC45A (R226* +1 more)	Single nucleotide variant (nonsense)	Osteootohepatoenteric syndrome	GPathogenic
Select item 3061784	NM_018671.5(UNC45A):c.689C>G (p.Thr230Arg)	UNC45A (T215R +1 more)	Single nucleotide variant (missense variant)	Osteootohepatoenteric syndrome	GPathogenic
Select item 2441784	NM_018671.5(UNC45A):c.51+2T>C	UNC45A, LOC130057954	Single nucleotide variant (intron variant +1 more)	Osteootohepatoenteric syndrome	GLikely pathogenic
Select item 1476282	NM_018671.5(UNC45A):c.119C>A (p.Ala40Asp)	UNC45A (A25D +1 more)	Single nucleotide variant (missense variant +1 more)	Osteootohepatoenteric syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1164087	NM_018671.5(UNC45A):c.1028G>T (p.Gly343Val)	UNC45A (G328V +2 more)	Single nucleotide variant (missense variant)	Osteootohepatoenteric syndrome	GPathogenic
Select item 1164086	NM_018671.5(UNC45A):c.292C>T (p.Arg98Trp)	UNC45A (R83W +1 more)	Single nucleotide variant (missense variant +1 more)	Osteootohepatoenteric syndrome	GPathogenic
Select item 1164085	NM_018671.5(UNC45A):c.2626C>T (p.Gln876Ter)	RCCD1-AS1, UNC45A (Q861* +2 more)	Single nucleotide variant (nonsense)	Osteootohepatoenteric syndrome	GPathogenic
Select item 1164084	NM_018671.5(UNC45A):c.[2678C>T;2779T>G]	RCCD1-AS1, UNC45A (S748L +3 more)	Single nucleotide variant (missense variant)	Osteootohepatoenteric syndrome	GPathogenic
Select item 1164083	NM_018671.5(UNC45A):c.829C>T (p.Arg277Ter)	UNC45A (R262* +2 more)	Single nucleotide variant (nonsense)	Osteootohepatoenteric syndrome	GPathogenic
Select item 1164082	NM_018671.5(UNC45A):c.1313T>A (p.Val438Asp)	UNC45A (V423D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978046	NM_018671.5(UNC45A):c.710T>C (p.Leu237Pro)	UNC45A (L222P +2 more)	Single nucleotide variant (missense variant)	UNC45A-associated Cholestasis +3 more	GUncertain significance