U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 118

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SIX1
(G273fs)
Duplication
(frameshift variant)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
(K114E)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
(P149fs)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
MIR9718, SIX1
(L163F)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
(A184T)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
(N62H)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
(E153Q)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
(Y143C)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
(S197del)
Microsatellite
(inframe_deletion)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
(E47Q)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 3
+1 more
GLikely benign
SIX1
(M238K)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
(A241D)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GLikely benign
MIR9718, SIX1
(R176S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Branchiootic syndrome 3
+1 more
GUncertain significance
MIR9718, SIX1
(T161S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
(P5Q)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 3
+1 more
GLikely benign
MIR9718, SIX1
(V168I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Branchiootic syndrome 3
+2 more
GUncertain significance
SIX1
(R119H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SIX1
(E28D)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 23
GUncertain significance
MNAT1, SIX1
+3 more
Deletion
not provided
GUncertain significance
MIR9718, SIX1
(T161fs)
Duplication
(frameshift variant)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
(G283R)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 3
+1 more
GLikely benign
SIX1
Single nucleotide variant
(intron variant)
Branchiootic syndrome 3
+1 more
GLikely benign
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 3
+1 more
GLikely benign
SIX1
(S230L)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
(E141K)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 23
+2 more
GUncertain significance
MIR9718, SIX1
Single nucleotide variant
(non-coding transcript variant +1 more)
Branchiootic syndrome 3
+1 more
GLikely benign
SIX1
(G259C)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GLikely benign
SIX1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GLikely benign
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 3
+1 more
GLikely benign
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 3
+1 more
GLikely benign
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 3
+1 more
GLikely benign
SIX1
(M1I)
Single nucleotide variant
(missense variant +1 more)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 3
+1 more
GLikely benign
SIX1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 3
+1 more
GLikely benign
MIR9718, SIX1
(N174K)
Single nucleotide variant
(missense variant +1 more)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
(Y129N)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
+2 more
GUncertain significance
MIR9718, SIX1
(Q167H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Branchiootic syndrome 3
+1 more
GConflicting classifications of pathogenicity
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 3
+1 more
GLikely benign
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 3
+1 more
GLikely benign
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 3
+1 more
GLikely benign
SIX1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GLikely benign
SIX1
(R140Q)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
(R110L)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GLikely pathogenic
SIX1
(A39S)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
(L271fs)
Microsatellite
(frameshift variant)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 3
+4 more
GBenign/Likely benign
SIX1
(K132N)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
+1 more
GPathogenic
MIR9718, SIX1
(R175Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GUncertain significance
SIX1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 23
GLikely benign
SIX1
(V280M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SIX1
Deletion
(intron variant)
Branchiootic syndrome 3
+2 more
GBenign/Likely benign
SIX1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GLikely benign
SIX1
(E207A)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1, SIX4
+1 more
Duplication
Branchiootic syndrome 3
+1 more
GUncertain significance
LOC130055766, SIX1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
(D227E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SIX1
(P249L)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
+3 more
GConflicting classifications of pathogenicity
SIX1
Single nucleotide variant
(3 prime UTR variant)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(3 prime UTR variant)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GBenign/Likely benign
SIX1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(3 prime UTR variant)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
MIR9718, SIX1
Single nucleotide variant
(non-coding transcript variant +1 more)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(3 prime UTR variant)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(intron variant)
Branchiootic syndrome 3
+2 more
GLikely benign
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 3
+2 more
GLikely benign
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootorenal syndrome 1
+2 more
GLikely benign
SIX1
(Q235H)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 23
GLikely benign
SIX1
(Y129S)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
+3 more
GConflicting classifications of pathogenicity
SIX1
(D227Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SIX1
(P249Q)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
+3 more
GBenign/Likely benign
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 3
+3 more
GConflicting classifications of pathogenicity
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 3
+2 more
GConflicting classifications of pathogenicity
SIX1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SIX1
(S215I)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 23
+4 more
GLikely benign
SIX1
(R64H)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 23
+4 more
GConflicting classifications of pathogenicity
SIX1
(K154*)
Single nucleotide variant
(nonsense)
Branchiootic syndrome 3
+1 more
GLikely pathogenic
LOC130055766, SIX1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(5 prime UTR variant)
Branchiootic syndrome 3
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GBenign/Likely benign
SIX1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GBenign/Likely benign
SIX1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GBenign
SIX1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
SIX1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GBenign/Likely benign
SIX1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 23
+2 more
GBenign/Likely benign
SIX1
(N193I)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
+3 more
GConflicting classifications of pathogenicity
SIX1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 23
+2 more
GUncertain significance
SIX1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 23
+1 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination