C4225203[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032287	NM_001371986.1(UNC80):c.673G>A (p.Gly225Arg)	UNC80 (G225R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031498	NM_001371986.1(UNC80):c.1313T>C (p.Leu438Pro)	UNC80 (L438P)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1031499	NM_001371986.1(UNC80):c.1418G>A (p.Gly473Glu)	UNC80 (G473E)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1031500	NM_001371986.1(UNC80):c.1544C>A (p.Thr515Asn)	UNC80 (T515N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1031501	NM_001371986.1(UNC80):c.1685T>A (p.Val562Asp)	LOC122861286, UNC80 (V562D)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1028448	NM_001371986.1(UNC80):c.1696C>T (p.Arg566Ter)	UNC80 (R566*)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GPathogenic
Select item 1028449	NM_001371986.1(UNC80):c.1910A>G (p.His637Arg)	UNC80 (H637R)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1028450	NM_001371986.1(UNC80):c.2213G>A (p.Gly738Glu)	UNC80 (G738E)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1031502	NM_001371986.1(UNC80):c.2436_2444del (p.Leu813_Gly815del)	UNC80	Deletion (inframe_deletion)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1028451	NM_001371986.1(UNC80):c.3020G>C (p.Arg1007Pro)	UNC80 (R1002P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1028452	NM_001371986.1(UNC80):c.3042-1G>T	UNC80	Single nucleotide variant (splice acceptor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GPathogenic
Select item 1028453	NM_001371986.1(UNC80):c.3160A>C (p.Thr1054Pro)	UNC80 (T1049P +1 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1028454	NM_001371986.1(UNC80):c.3283C>T (p.Leu1095=)	UNC80	Single nucleotide variant (synonymous variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GConflicting classifications of pathogenicity
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 1028455	NM_001371986.1(UNC80):c.3589A>G (p.Ile1197Val)	UNC80 (I1199V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2441932	NM_001371986.1(UNC80):c.3653C>T (p.Ala1218Val)	LOC121725110, UNC80 (A1215V +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1031504	NM_001371986.1(UNC80):c.4099G>C (p.Glu1367Gln)	UNC80 (E1367Q +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1031505	NM_001371986.1(UNC80):c.4189G>T (p.Val1397Phe)	UNC80 (V1394F +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1503935	NM_001371986.1(UNC80):c.4622C>T (p.Thr1541Ile)	UNC80 (T1470I +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +3 more	GUncertain significance
Select item 1032285	NM_001371986.1(UNC80):c.4781A>T (p.Glu1594Val)	UNC80 (E1528V +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1032286	NM_001371986.1(UNC80):c.5860A>G (p.Thr1954Ala)	UNC80 (T1883A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028456	NM_001371986.1(UNC80):c.7880G>A (p.Arg2627Gln)	UNC80 (R2556Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1032288	NM_001371986.1(UNC80):c.7888A>G (p.Ile2630Val)	UNC80 (I2564V +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1032289	NM_001371986.1(UNC80):c.7937C>T (p.Pro2646Leu)	UNC80 (P2575L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1367852	NM_001371986.1(UNC80):c.8324G>A (p.Gly2775Glu)	UNC80 (G2775E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1032290	NM_001371986.1(UNC80):c.8326A>T (p.Met2776Leu)	UNC80 (M2710L +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 597542	NM_001371986.1(UNC80):c.8461A>G (p.Ser2821Gly)	UNC80 (S2755G +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1028457	NM_001371986.1(UNC80):c.8773-16T>C	UNC80	Single nucleotide variant (intron variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1028459	NM_001371986.1(UNC80):c.9191G>A (p.Arg3064Gln)	UNC80 (R2993Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1028962	NM_001371986.1(UNC80):c.9274G>A (p.Asp3092Asn)	UNC80 (D3026N +1 more)	Single nucleotide variant (missense variant +1 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 798305	NM_001371986.1(UNC80):c.9449G>A (p.Arg3150His)	UNC80 (R3150H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1032291	NM_001371986.1(UNC80):c.9472A>C (p.Thr3158Pro)	UNC80 (T3068P +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 718730	NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys)	UNC80 (Q3254K +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +3 more	GConflicting classifications of pathogenicity
Select item 1032292	NM_001371986.1(UNC80):c.9875A>G (p.Glu3292Gly)	UNC80 (E3202G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032293	NM_001371986.1(UNC80):c.9888G>C (p.Met3296Ile)	UNC80 (M3206I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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Items: 35