Related gene-specific medical variations for Gene (Select 116150) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382529	NM_138459.5(NUS1):c.861T>A (p.Cys287Ter)	NUS1 (C287*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 55, with seizures	GLikely pathogenic
Select item 3361236	NM_138459.5(NUS1):c.616G>A (p.Asp206Asn)	NUS1 (D206N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361042	NM_138459.5(NUS1):c.645A>C (p.Gln215His)	NUS1 (Q215H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359086	NM_138459.5(NUS1):c.791+4A>C	NUS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 55, with seizures	GUncertain significance
Select item 3246047	NC_000006.11:g.(?_117996834)_(118028178_?)del	NUS1	Deletion	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2664151	NM_138459.5(NUS1):c.616G>T (p.Asp206Tyr)	NUS1 (D206Y)	Single nucleotide variant (missense variant)	Congenital bilateral perisylvian syndrome	GLikely pathogenic
Select item 2434480	NM_138459.5(NUS1):c.666T>G (p.Asp222Glu)	NUS1 (D222E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434479	NM_138459.5(NUS1):c.338G>A (p.Ser113Asn)	NUS1 (S113N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434477	NM_138459.5(NUS1):c.23T>C (p.Val8Ala)	NUS1 (V8A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434476	NM_138459.5(NUS1):c.220G>A (p.Gly74Arg)	NUS1 (G74R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434475	NM_138459.5(NUS1):c.470A>T (p.Gln157Leu)	NUS1 (Q157L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432350	NM_138459.5(NUS1):c.9dup (p.Leu4fs)	NUS1 (L4fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2430036	NM_138459.5(NUS1):c.328C>T (p.Gln110Ter)	NUS1 (Q110*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 1690323	NM_138459.5(NUS1):c.25_26del (p.Trp9fs)	NUS1 (W9fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 987380	NM_138459.5(NUS1):c.28_29dup (p.Val11fs)	NUS1 (V11fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 987114	NM_138459.5(NUS1):c.672_673del (p.Thr225fs)	NUS1 (T225fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 813573	NM_138459.5(NUS1):c.82G>C (p.Val28Leu)	NUS1 (V28L)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance