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Links from MedGen

Items: 1 to 100 of 268

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPINK5
(A818T)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(N910D)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(C239fs)
Duplication
(frameshift variant)
Netherton syndrome
GLikely pathogenic
SPINK5
(N755fs)
Deletion
(frameshift variant)
Netherton syndrome
GLikely pathogenic
SPINK5
(G1053E +1 more)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(R681K)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
Deletion
Netherton syndrome
GPathogenic
SPINK5
(A745V)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(M472L)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(E148A)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(T631I)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
Single nucleotide variant
(intron variant)
Netherton syndrome
GUncertain significance
SPINK5
(G875D)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(N926H +1 more)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(R871Q)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(H82R)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(R575K)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(R1071L +1 more)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(N738S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SPINK5
(I110V)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(K824fs)
Microsatellite
(frameshift variant)
Netherton syndrome
GPathogenic
SPINK5
Indel
(intron variant)
Netherton syndrome
GUncertain significance
SPINK5
(R729C)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(S154G)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(D826E)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(E683Q)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
Single nucleotide variant
(intron variant)
Netherton syndrome
GUncertain significance
SPINK5
Insertion
(intron variant)
Netherton syndrome
GLikely benign
SPINK5
(M855T)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(L379F)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(K2Q)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(G187E)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
Single nucleotide variant
(intron variant)
Netherton syndrome
GUncertain significance
SPINK5
(A259D)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(C529Y)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(S792N)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(K345R)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(G393E)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(S154R)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(Q426H)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(E615G)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(K559E)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(R578*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
SPINK5
(M58T)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
SPINK5
(E962G +1 more)
Single nucleotide variant
(missense variant)
Netherton syndrome
+1 more
GUncertain significance
SPINK5
(Q389E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SPINK5
(D19A)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(R448Q)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(T176A)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(G797D)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(R796Q)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(L16F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SPINK5
(S427fs)
Deletion
(frameshift variant)
Netherton syndrome
GLikely pathogenic
SPINK5
(Y300C)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
Single nucleotide variant
(splice donor variant)
Netherton syndrome
GLikely pathogenic
SPINK5
(A964E +1 more)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
Single nucleotide variant
(intron variant)
Netherton syndrome
+2 more
GBenign
SPINK5
Single nucleotide variant
(intron variant)
Netherton syndrome
+2 more
GBenign
SPINK5
Single nucleotide variant
(intron variant)
Netherton syndrome
+1 more
GBenign
SPINK5
Single nucleotide variant
(intron variant)
Netherton syndrome
+2 more
GBenign
SPINK5
Single nucleotide variant
(intron variant)
Netherton syndrome
+2 more
GBenign
SPINK5
Single nucleotide variant
(intron variant)
Netherton syndrome
+1 more
GBenign
SPINK5
Insertion
(intron variant)
not provided
+2 more
GBenign
SPINK5
Deletion
(intron variant)
Netherton syndrome
+2 more
GBenign
SPINK5
(M472T)
Single nucleotide variant
(missense variant)
Ichthyosis linearis circumflexa
+1 more
GUncertain significance
SPINK5
Single nucleotide variant
(intron variant)
Netherton syndrome
+2 more
GBenign
SPINK5
Single nucleotide variant
(synonymous variant)
Netherton syndrome
GLikely benign
SPINK5
Single nucleotide variant
(synonymous variant)
Netherton syndrome
GLikely benign
SPINK5
Deletion
Netherton syndrome
GPathogenic
SPINK5
(A611V)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(F407del)
Microsatellite
(inframe_deletion)
Netherton syndrome
GUncertain significance
SPINK5
(G120D)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(I509V)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(G358R)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(Y950C +1 more)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(S568G)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(E791A)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(R816K)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(M196T)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(R654H)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
Microsatellite
(splice donor variant)
not provided
GPathogenic
SPINK5
(A1056T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SPINK5
(R850C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SPINK5
(R796W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SPINK5
(D592H)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(R371*)
Single nucleotide variant
(nonsense)
Netherton syndrome
+1 more
GPathogenic
SPINK5
(N155S)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(R218G)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(A893G)
Single nucleotide variant
(missense variant)
Netherton syndrome
+1 more
GUncertain significance
SPINK5
(R891Q)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(R1031S +1 more)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(G797V)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(Q334*)
Single nucleotide variant
(nonsense)
Ichthyosis linearis circumflexa
+1 more
GPathogenic
SPINK5
(P652L)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(P92A)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(N306S)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(K222N)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(R500W)
Single nucleotide variant
(missense variant)
Netherton syndrome
+1 more
GUncertain significance
SPINK5
(R920Q +1 more)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
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