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Links from Gene

Items: 1 to 100 of 2954

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMCN1
(G322V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(G322S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(A3184T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(M3099T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(N3010D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(D2757E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(I268T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(I2528V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(V249L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(A2120V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(Q196R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(A1807E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(D176E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(E1720D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(G1693S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(G1491D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(N1221S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(A1060T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(K102R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(A929S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(Y819C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(Q817L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(T719N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(K674R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(A671T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(N5466S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(G5180A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(A4944V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(F46I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(A4241P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(H4166R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(K4023R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(I3954M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(R3657T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(L3641F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(P3619T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(S3602F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(A3589V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(N3510K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(Q3492E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(V3421L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(G3344S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(L2098I)
Single nucleotide variant
(missense variant)
Age related macular degeneration 1
GUncertain significance
ABL2, ACBD6
+123 more
Copy number loss
not specified
GPathogenic
HMCN1
Single nucleotide variant
(synonymous variant)
HMCN1-related disorder
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
HMCN1-related disorder
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
HMCN1-related disorder
GLikely benign
HMCN1
Single nucleotide variant
(synonymous variant)
HMCN1-related disorder
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
HMCN1-related disorder
GLikely benign
HMCN1
Microsatellite
(intron variant)
HMCN1-related disorder
GLikely benign
HMCN1
Deletion
(5 prime UTR variant)
HMCN1-related disorder
GLikely benign
HMCN1
Microsatellite
(intron variant)
HMCN1-related disorder
GLikely benign
HMCN1
(G2741R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
(N2190D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(D954G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
HMCN1
(D5242Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
HMCN1
(T3369M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(R1073G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Deletion
(splice donor variant)
not provided
GUncertain significance
HMCN1
(H8L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(S2591R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(R3567Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
(P1359L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1
(K3610N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(L4288F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(I1238M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(S4819T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1
(N4931S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(N4750S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(N1687K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(V2084E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(D830G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(P1122L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(A1340S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HMCN1
(S1405N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(G4741R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1
(K3503R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(T1580A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1
(P702S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(N5166D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(I5013M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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