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Links from MedGen

Items: 1 to 100 of 245

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH14
(T1953N +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(G1753R +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(D191N)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GLikely pathogenic
MYH14
(D191H)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GLikely pathogenic
MYH14
(R183W)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
+1 more
GUncertain significance
MYH14
(L937P +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(intron variant)
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
+2 more
GBenign/Likely benign
MYH14
(R1233Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MYH14
(P536L +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYH14
Single nucleotide variant
(intron variant)
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
+2 more
GBenign
MYH14
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
MYH14
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 4A
+2 more
GBenign
MYH14
(T1956fs +2 more)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 4A
GPathogenic
MYH14
(G164A)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(R1918W +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
+2 more
GUncertain significance
MYH14
(L801P +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
+1 more
Gnot provided
MYH14
(H2034P +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
+1 more
GUncertain significance
MYH14
(V4M)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(R1768Q +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(R1729W +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(Q1670H +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(R1325W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYH14
(V753L +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(R710W +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(P709A +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 4A
GLikely benign
MYH14
(R1996H +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
+1 more
GUncertain significance
MYH14
(G1948R +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(E1594K +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MYH14
(R1552Q +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(R1254W +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MYH14
(E1249K +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(T926M +2 more)
Single nucleotide variant
(missense variant)
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
+2 more
GConflicting classifications of pathogenicity
MYH14
(R672Q +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(A615S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
+1 more
GUncertain significance
LOC121852992, MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
+1 more
GConflicting classifications of pathogenicity
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(R1516C +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
+1 more
GConflicting classifications of pathogenicity
MYH14
(A1515T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYH14
(A1549T +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(R1509W +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(R1258C +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
+1 more
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
+1 more
GConflicting classifications of pathogenicity
MYH14
(A882V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
MYH14
(R867C +2 more)
Single nucleotide variant
(missense variant)
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
+3 more
GConflicting classifications of pathogenicity
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
+1 more
GLikely benign
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
+1 more
GConflicting classifications of pathogenicity
MYH14
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(E529A +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(V218M)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(E199Q)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(Q187R)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
+1 more
GConflicting classifications of pathogenicity
MYH14
(Q187K)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MYH14
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 4A
GLikely benign
MYH14
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 4A
GLikely benign
MYH14
(R1804Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
MYH14
(R1762L +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GLikely benign
MYH14
(R1762H +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
+1 more
GUncertain significance
MYH14
(R1496C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(R1104Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYH14
(Q777P +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(P754T +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYH14
(R402H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYH14
(A387V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYH14
(R88Q)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GLikely benign
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(G1981A +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(T1345S +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
MYH14
(D612N +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MYH14
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 4A
+1 more
GBenign/Likely benign
MYH14
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 4A
+1 more
GConflicting classifications of pathogenicity
MYH14
(S370L +1 more)
Single nucleotide variant
(missense variant)
MYH14-related condition
+2 more
GBenign/Likely benign
MYH14
(S665L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH14
(E932K +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(I284T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 4A
+1 more
GUncertain significance
MYH14
(A480S +1 more)
Single nucleotide variant
(missense variant)
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
+1 more
GUncertain significance
MYH14
Single nucleotide variant
(splice donor variant)
Autosomal dominant nonsyndromic hearing loss 4A
GUncertain significance
MYH14
(E991K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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