"PreventionGenetics, part of Exact Sciences"[submitter] AND "UNC45A"[g - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1644687	NM_018671.5(UNC45A):c.33C>A (p.Pro11=)	LOC130057954, UNC45A	Single nucleotide variant (synonymous variant +2 more)	UNC45A-related disorder +1 more	GLikely benign
Select item 1169185	NM_018671.5(UNC45A):c.520-5C>T	UNC45A	Single nucleotide variant (intron variant)	UNC45A-related disorder +1 more	GBenign
Select item 1663083	NM_018671.5(UNC45A):c.709C>T (p.Leu237=)	UNC45A	Single nucleotide variant (synonymous variant)	UNC45A-related disorder +1 more	GBenign/Likely benign
Select item 1166613	NM_018671.5(UNC45A):c.719G>C (p.Arg240Pro)	UNC45A (R225P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1167373	NM_018671.5(UNC45A):c.751C>G (p.Gln251Glu)	UNC45A (Q106E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1170133	NM_018671.5(UNC45A):c.965C>T (p.Ala322Val)	UNC45A (A177V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1631653	NM_018671.5(UNC45A):c.984C>G (p.Leu328=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1164964	NM_018671.5(UNC45A):c.1020C>T (p.Ile340=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 721695	NM_018671.5(UNC45A):c.1165G>A (p.Glu389Lys)	UNC45A (E374K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1170671	NM_018671.5(UNC45A):c.1275A>G (p.Pro425=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1167744	NM_018671.5(UNC45A):c.1314C>T (p.Val438=)	UNC45A	Single nucleotide variant (synonymous variant)	UNC45A-related disorder +1 more	GBenign/Likely benign
Select item 1633006	NM_018671.5(UNC45A):c.1432G>T (p.Gly478Cys)	UNC45A (G333C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2198343	NM_018671.5(UNC45A):c.1515C>T (p.Leu505=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1665815	NM_018671.5(UNC45A):c.1614G>A (p.Gln538=)	UNC45A	Single nucleotide variant (synonymous variant)	UNC45A-related disorder +1 more	GLikely benign
Select item 1596609	NM_018671.5(UNC45A):c.1620C>T (p.Asp540=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1663120	NM_018671.5(UNC45A):c.1816G>A (p.Asp606Asn)	UNC45A (D461N +2 more)	Single nucleotide variant (missense variant)	UNC45A-related disorder +1 more	GBenign
Select item 1600133	NM_018671.5(UNC45A):c.1890C>T (p.Ser630=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1609133	NM_018671.5(UNC45A):c.2007-9T>C	UNC45A	Single nucleotide variant (intron variant)	UNC45A-related disorder +1 more	GLikely benign
Select item 1167688	NM_018671.5(UNC45A):c.2007-7C>T	UNC45A	Single nucleotide variant (intron variant)	UNC45A-related disorder +1 more	GBenign
Select item 1586849	NM_018671.5(UNC45A):c.2067C>T (p.Gly689=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1167287	NM_018671.5(UNC45A):c.2163G>A (p.Pro721=)	UNC45A	Single nucleotide variant (synonymous variant)	UNC45A-related disorder +1 more	GBenign
Select item 2061228	NM_018671.5(UNC45A):c.2211C>T (p.Leu737=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1167745	NM_018671.5(UNC45A):c.2388G>A (p.Thr796=)	RCCD1-AS1, UNC45A	Single nucleotide variant (non-coding transcript variant +1 more)	UNC45A-related disorder +1 more	GBenign/Likely benign
Select item 1111193	NM_018671.5(UNC45A):c.2506C>T (p.Arg836Trp)	RCCD1-AS1, UNC45A (R691W +2 more)	Single nucleotide variant (missense variant)	UNC45A-related disorder +1 more	GLikely benign
Select item 1930066	NM_018671.5(UNC45A):c.2517C>T (p.Ala839=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 25