"Fulgent Genetics, Fulgent Genetics"[submitter] AND "UNC80"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1518518	NM_001371986.1(UNC80):c.298+2T>C	UNC80	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +2 more	GConflicting classifications of pathogenicity
Select item 1403266	NM_001371986.1(UNC80):c.1465C>T (p.Arg489Cys)	UNC80 (R489C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 708763	NM_001371986.1(UNC80):c.2616G>A (p.Pro872=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1031503	NM_001371986.1(UNC80):c.3350G>C (p.Ser1117Thr)	UNC80 (S1114T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 225080	NM_001371986.1(UNC80):c.3877G>C (p.Glu1293Gln)	UNC80 (E1295Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1481860	NM_001371986.1(UNC80):c.6381T>G (p.Ile2127Met)	UNC80 (I2127M +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1502954	NM_001371986.1(UNC80):c.6428T>C (p.Met2143Thr)	UNC80 (M2072T +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1575872	NM_001371986.1(UNC80):c.6758T>C (p.Met2253Thr)	UNC80 (M2182T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1601301	NM_001371986.1(UNC80):c.7806-17AT[7]	UNC80	Microsatellite (intron variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GBenign/Likely benign
Select item 791886	NM_001371986.1(UNC80):c.8589G>A (p.Ala2863=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1375398	NM_001371986.1(UNC80):c.8719G>A (p.Val2907Met)	UNC80 (V2836M +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 711198	NM_001371986.1(UNC80):c.9078G>A (p.Ser3026=)	UNC80	Single nucleotide variant (synonymous variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GBenign/Likely benign
Select item 1352162	NM_001371986.1(UNC80):c.9119-1_9119insGAG	UNC80	Insertion (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 548525	NM_001371986.1(UNC80):c.9448C>T (p.Arg3150Cys)	UNC80 (R3084C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1663938	NM_001371986.1(UNC80):c.9504G>A (p.Pro3168=)	UNC80	Single nucleotide variant (synonymous variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GBenign/Likely benign
Select item 445362	NM_001371986.1(UNC80):c.9752C>G (p.Thr3251Arg)	UNC80 (T3185R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 452020	NM_001371986.1(UNC80):c.9867T>A (p.His3289Gln)	UNC80 (H3223Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance