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Links from MedGen

Items: 1 to 100 of 341

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NHS
Deletion
(inframe_deletion)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(splice donor variant)
Nance-Horan syndrome
+1 more
GLikely pathogenic
NHS
Single nucleotide variant
(intron variant)
Nance-Horan syndrome
GLikely benign
NHS
(R303H +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GBenign
NHS
Single nucleotide variant
(intron variant)
Nance-Horan syndrome
GBenign
NHS
(S1001G +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
+1 more
GConflicting classifications of pathogenicity
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GBenign
NHS
(D1051N +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GLikely benign
NHS
(D246Y +1 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(S745F +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(intron variant)
Nance-Horan syndrome
GLikely benign
NHS
(T790R +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GLikely benign
NHS
(P640S +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(N905S +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(S1369P +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(intron variant)
Nance-Horan syndrome
GLikely benign
NHS
(M140T +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GBenign
NHS
(K489R +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(S1197C +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GBenign
NHS
(Q185R)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(S1303del +3 more)
Microsatellite
(inframe_deletion)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GBenign
NHS
(S665L +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(Q719K +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GBenign
NHS
(T1148P +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(T897M +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GLikely benign
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GLikely benign
NHS
(V142L)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(D239H +3 more)
Single nucleotide variant
(missense variant)
NHS-related disorder
+1 more
GLikely benign
NHS
(P1129Q +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GLikely benign
NHS
(G481S +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GLikely benign
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GLikely benign
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GLikely benign
NHS
(P1522T +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GLikely benign
NHS
(D534H +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(F105V +1 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(intron variant)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GBenign
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GLikely benign
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
+1 more
GLikely benign
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GLikely benign
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GBenign
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GLikely benign
NHS
(P444H +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GBenign
NHS
(R307Q +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GBenign
NHS
(H1103fs +3 more)
Deletion
(frameshift variant)
Nance-Horan syndrome
GPathogenic
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GLikely benign
NHS
(S308N +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(G840S +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GBenign
NHS
(R204C +1 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GLikely benign
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GLikely benign
NHS
(G921D +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GBenign
NHS
(D614Y +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(F1167C +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GLikely benign
NHS
(L692P +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GLikely benign
NHS
(G490V +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(P413H +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GLikely benign
NHS
(Y26C +1 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(P651L +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GLikely benign
NHS
Single nucleotide variant
(intron variant)
Nance-Horan syndrome
GBenign
NHS
Insertion
(intron variant)
Nance-Horan syndrome
GLikely benign
NHS
(S945* +3 more)
Single nucleotide variant
(nonsense)
Nance-Horan syndrome
GPathogenic
NHS
(C125fs)
Duplication
(frameshift variant)
Nance-Horan syndrome
GPathogenic
NHS
(P348R +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GLikely benign
NHS
Single nucleotide variant
(intron variant)
Nance-Horan syndrome
GUncertain significance
NHS
(P351S +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GBenign
NHS
(S614G +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GLikely benign
NHS
(D1183G +3 more)
Indel
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(K853Q +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(D1120G +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GBenign
NHS
Single nucleotide variant
(intron variant)
Nance-Horan syndrome
GLikely benign
NHS
(E743K +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(L46V)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
Insertion
(intron variant)
Nance-Horan syndrome
GBenign
NHS
(I128V +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GBenign
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GBenign
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GBenign
NHS
(S753L +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GBenign
NHS
(R1281H +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(G66A)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GLikely benign
NHS
(G29V)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(E578K +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(R137P)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Nance-Horan syndrome
GBenign
NHS
(T731I +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
(R1255K +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
NHS-related disorder
+1 more
GBenign/Likely benign
NHS
(P1348H +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
GUncertain significance
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