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Links from MedGen

Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLN6
(W281* +1 more)
Single nucleotide variant
(nonsense)
Ceroid lipofuscinosis, neuronal, 6A
GLikely pathogenic
CLN6
Single nucleotide variant
(stop lost)
Ceroid lipofuscinosis, neuronal, 6A
GLikely pathogenic
CLN6
(Y295H +1 more)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GUncertain significance
CLN6
(T125K +1 more)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GPathogenic
CLN6
(M66fs +1 more)
Duplication
(frameshift variant)
Ceroid lipofuscinosis, neuronal, 6A
+1 more
GLikely pathogenic
CLN6
(K131N +1 more)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GLikely pathogenic
CLN6
(L108fs)
Deletion
(frameshift variant)
Ceroid lipofuscinosis, neuronal, 6A
+1 more
GLikely pathogenic
CLN6
(V129fs)
Duplication
(frameshift variant)
Ceroid lipofuscinosis, neuronal, 6A
+1 more
GLikely pathogenic
CLN6
(I126fs)
Indel
(frameshift variant)
Ceroid lipofuscinosis, neuronal, 6A
+1 more
GLikely pathogenic
CLN6
(L53R)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GUncertain significance
CLN6
(V307I)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+2 more
GUncertain significance
CLN6
(P299H)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GLikely pathogenic
CLN6
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CLN6
Duplication
(inframe_insertion)
Ceroid lipofuscinosis, neuronal, 6A
GPathogenic
CLN6
(Y295C)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GLikely pathogenic
CLN6
(Y172H)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GLikely pathogenic
CLN6
(S104F)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
+2 more
GConflicting classifications of pathogenicity
CLN6
(M241I)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GUncertain significance
CLN6
(L146P)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GConflicting classifications of pathogenicity
CLN6
(R106H)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+2 more
GUncertain significance
CLN6
(W73*)
Single nucleotide variant
(nonsense)
Adult neuronal ceroid lipofuscinosis
+1 more
GLikely pathogenic
CLN6
(Q143*)
Single nucleotide variant
(nonsense)
Adult neuronal ceroid lipofuscinosis
+1 more
GLikely pathogenic
CLN6
(E167*)
Single nucleotide variant
(nonsense)
Ceroid lipofuscinosis, neuronal, 6A
+1 more
GLikely pathogenic
CLN6
(G259S)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
+4 more
GConflicting classifications of pathogenicity
CLN6
(C196F)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GUncertain significance
CLN6
(Y220S)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GUncertain significance
CLN6
(Y221C)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN6
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
+2 more
GLikely benign
CLN6
(R28K)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic
CLN6
(G14D)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
+3 more
GUncertain significance
CLN6
(Y84N)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GPathogenic
CLN6
(Y221S)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GConflicting classifications of pathogenicity
CLN6
(F185fs)
Duplication
(frameshift variant)
Ceroid lipofuscinosis, neuronal, 6A
GPathogenic
CLN6
Single nucleotide variant
(intron variant)
not provided
GBenign
CLN6
(E167*)
Duplication
(nonsense)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN6
(D256fs)
Deletion
(frameshift variant)
Ceroid lipofuscinosis, neuronal, 6A
GLikely pathogenic
CLN6
(M1V)
Single nucleotide variant
(missense variant +1 more)
Ceroid lipofuscinosis, neuronal, 6A
GLikely pathogenic
CLN6
(Y303*)
Single nucleotide variant
(nonsense)
Ceroid lipofuscinosis, neuronal, 6A
GUncertain significance
CLN6
(F263fs)
Microsatellite
(frameshift variant)
Ceroid lipofuscinosis, neuronal, 6A
GLikely pathogenic
CLN6
(W279*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN6
(G259C)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GUncertain significance
CLN6
(Y170C)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+2 more
GUncertain significance
CLN6
(F234L)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GUncertain significance
CLN6
Single nucleotide variant
(splice donor variant)
Ceroid lipofuscinosis, neuronal, 6A
+3 more
GLikely pathogenic
CLN6
(R62C)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
+1 more
GConflicting classifications of pathogenicity
CLN6
Single nucleotide variant
(splice donor variant)
Ceroid lipofuscinosis, neuronal, 6A
GLikely pathogenic
CLN6
(S125G)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+2 more
GUncertain significance
CLN6
(L169P)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GUncertain significance
CLN6
(W181*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN6
Single nucleotide variant
(intron variant +1 more)
Ceroid lipofuscinosis, neuronal, 6A
GLikely pathogenic
CLN6
(P299L)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
+2 more
GPathogenic/Likely pathogenic
CLN6
(W222*)
Single nucleotide variant
(nonsense)
Ceroid lipofuscinosis, neuronal, 6A
GLikely pathogenic
CLN6
(V148D)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GUncertain significance
CLN6
(R62H)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+2 more
GConflicting classifications of pathogenicity
CLN6
Single nucleotide variant
(intron variant)
Ceroid lipofuscinosis, neuronal, 6A
GUncertain significance
CLN6
(E227K)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GConflicting classifications of pathogenicity
CLN6
(P159L)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
+3 more
GConflicting classifications of pathogenicity
CLN6
(R103W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CLN6
(R252C)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+2 more
GUncertain significance
CLN6
(R5W)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CLN6
(T161M)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
+5 more
GUncertain significance
Ceroid lipofuscinosis, neuronal, 6A
GPathogenic
CLN6
(R136H)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+4 more
GConflicting classifications of pathogenicity
CLN6
(W300R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CLN6
(I119del)
Microsatellite
(inframe_deletion)
Ceroid lipofuscinosis, neuronal, 6A
+1 more
GUncertain significance
CLN6
(G259R)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GUncertain significance
CLN6
(S265del)
Microsatellite
(inframe_deletion)
Neuronal ceroid lipofuscinosis
+4 more
GConflicting classifications of pathogenicity
CLN6
(G17S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CLN6
(E2G)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+4 more
GConflicting classifications of pathogenicity
CLN6
(R252H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CLN6
(A243V)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+4 more
GUncertain significance
CLN6
(E102K)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+3 more
GUncertain significance
CLN6
(F85L)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
+3 more
GUncertain significance
CLN6
(S308T)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
CLN6
(A18V)
Single nucleotide variant
(missense variant)
CLN6-related disorder
+6 more
GConflicting classifications of pathogenicity
CLN6
(A12T)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
CLN6
(K201E)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
+3 more
GUncertain significance
CLN6
Single nucleotide variant
(intron variant)
Agenesis of the corpus callosum with peripheral neuropathy
+4 more
GConflicting classifications of pathogenicity
CLN6
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
SMPD1
(G247S +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GPathogenic/Likely pathogenic
CLN6
(P297fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CLN6
(R149H)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
+2 more
GUncertain significance
CLN6
(Y50*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN6
(L47F)
Single nucleotide variant
(missense variant)
Ceroid lipofuscinosis, neuronal, 6A
GUncertain significance
CLN6
(R103Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CLN6
(V91fs)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis
GPathogenic
CLN6
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN6
(Y221*)
Single nucleotide variant
(nonsense)
Ceroid lipofuscinosis, neuronal, 6A
GPathogenic
CLN6
(I154del)
Microsatellite
(inframe_deletion)
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
+4 more
GPathogenic/Likely pathogenic
CLN6
(S132fs)
Microsatellite
(frameshift variant)
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
+4 more
GPathogenic
CLN6
(R106fs)
Duplication
(frameshift variant)
Ceroid lipofuscinosis, neuronal, 6A
+2 more
GPathogenic
CLN6
(A3fs)
Deletion
(frameshift variant)
Ceroid lipofuscinosis, neuronal, 6A
GPathogenic
CLN6
(G123D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLN6
(Y172del)
Microsatellite
(inframe_deletion)
Ceroid lipofuscinosis, neuronal, 6A
GPathogenic
CLN6
(E72*)
Single nucleotide variant
(nonsense)
Ceroid lipofuscinosis, neuronal, 6A
+3 more
GPathogenic
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