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Items: 1 to 100 of 133

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UNC80
(R2113* +2 more)
Single nucleotide variant
(nonsense)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GPathogenic
UNC80
(S2669fs +2 more)
Insertion
(frameshift variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GLikely pathogenic
UNC80
(G763S)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Gnot provided
LOC121725110, UNC80
(A1215V +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
(C255Y)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
(R3050C +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
(P2544A +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
Deletion
(inframe_deletion)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
(Q2156R +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
(S2337fs +2 more)
Deletion
(frameshift variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GLikely pathogenic
UNC80
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
UNC80
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
UNC80
(H1487L +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
LOC126806490, UNC80
(M1693V +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
(S2767C +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
Single nucleotide variant
(splice acceptor variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GLikely pathogenic
LOC126806490, UNC80
(V1640G +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
(Y2408fs +2 more)
Deletion
(frameshift variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GLikely pathogenic
UNC80
(Q2255* +2 more)
Single nucleotide variant
(nonsense)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GPathogenic
UNC80
Single nucleotide variant
(splice donor variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GLikely pathogenic
UNC80
Single nucleotide variant
(intron variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GBenign
UNC80
Single nucleotide variant
(intron variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GBenign
UNC80
(T2914I +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Gnot provided
UNC80
Single nucleotide variant
(synonymous variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GBenign/Likely benign
UNC80
Single nucleotide variant
(synonymous variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GBenign
UNC80
(T1045I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
UNC80
Microsatellite
(intron variant)
not provided
+1 more
GBenign/Likely benign
UNC80
(M2182T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
LOC122861286, UNC80
Single nucleotide variant
(synonymous variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GConflicting classifications of pathogenicity
UNC80
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
UNC80
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GConflicting classifications of pathogenicity
UNC80
(T3076M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UNC80
(T1470I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
UNC80
(M2072T +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
(R2777H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UNC80
(I2127M +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
(R1355* +2 more)
Single nucleotide variant
(nonsense)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GPathogenic
UNC80
(D1303N +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
(R489C)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
(V2836M +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
(R96*)
Single nucleotide variant
(nonsense)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GPathogenic
UNC80
(G2775E +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
UNC80
Insertion
(splice acceptor variant)
not provided
+1 more
GUncertain significance
UNC80
(R838Q +1 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
(L3222M +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
Single nucleotide variant
(splice acceptor variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GLikely pathogenic
UNC80
Single nucleotide variant
(splice donor variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GPathogenic
UNC80
(Q967* +1 more)
Single nucleotide variant
(nonsense)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GPathogenic
UNC80
(P1432L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UNC80
(S139F)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
(T3152N +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
(T2401M +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
UNC80
(E3203K +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+2 more
GUncertain significance
UNC80
Single nucleotide variant
(synonymous variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GBenign
UNC80
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
UNC80
(I2680L +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
(M3206I +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+2 more
GUncertain significance
UNC80
(E3202G +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UNC80
(T3068P +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
(M2710L +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
(P2575L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UNC80
(I2564V +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
(G225R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UNC80
(T1883A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UNC80
(E1528V +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
(V1394F +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
(E1367Q +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
(S1114T +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+3 more
GConflicting classifications of pathogenicity
UNC80
Deletion
(inframe_deletion)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
LOC122861286, UNC80
(V562D)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
(T515N)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
(G473E)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
(L438P)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
(D3026N +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
(R2993Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
UNC80
Single nucleotide variant
(intron variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
(R2556Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
UNC80
(I1199V +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
Single nucleotide variant
(synonymous variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GConflicting classifications of pathogenicity
UNC80
(T1049P +1 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
Single nucleotide variant
(splice acceptor variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GPathogenic
UNC80
(R1002P +1 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+2 more
GUncertain significance
UNC80
(G738E)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
(H637R)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
(R566*)
Single nucleotide variant
(nonsense)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GPathogenic
UNC80
(R137*)
Single nucleotide variant
(nonsense)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GPathogenic
UNC80
(E2968V +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GUncertain significance
UNC80
Deletion
(splice donor variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GPathogenic
UNC80
(I2989T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
UNC80
(A2399V +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
(V1791fs +2 more)
Microsatellite
(frameshift variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GPathogenic/Likely pathogenic
UNC80
(T2567fs +2 more)
Deletion
(frameshift variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GPathogenic/Likely pathogenic
UNC80
(R453fs)
Deletion
(frameshift variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GLikely pathogenic
UNC80
(P371L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UNC80
(R1802H +2 more)
Single nucleotide variant
(missense variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GUncertain significance
UNC80
(R1282* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
UNC80
Single nucleotide variant
(splice acceptor variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
GPathogenic
UNC80
(R3150H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
UNC80
Single nucleotide variant
(synonymous variant)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
+1 more
GBenign/Likely benign
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