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Links from MedGen

Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126863145, TRIOBP
(R127L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TRIOBP
(P1950L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TRIO
(V218I)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TRIOBP
(R861*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
+1 more
GPathogenic
TRIOBP
(R621*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
GPathogenic
TRIOBP
(R595*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
GPathogenic
TRIOBP
(T839S)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TRIOBP
(H236Y)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TRIOBP
(R899G)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TRIOBP
(T1513M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TRIOBP
(Q765K)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TRIOBP
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 28
+1 more
GLikely benign
TRIOBP
Insertion
(intron variant)
TRIOBP-related condition
+2 more
GBenign/Likely benign
TRIOBP
(A619fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 28
GLikely pathogenic
TRIOBP
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 28
+1 more
GPathogenic/Likely pathogenic
TRIOBP
(R726*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
GLikely pathogenic
TRIOBP
(W1427*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
GLikely pathogenic
TRIOBP
(D852V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TRIOBP
(S2358L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
LOC126863145, TRIOBP
(K1808E +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TRIOBP
(S562C)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TRIOBP
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 28
GBenign
TRIOBP
(E1314D)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
+1 more
GUncertain significance
TRIOBP
(R1221Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
+1 more
GUncertain significance
TRIOBP
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 28
+1 more
GBenign
TRIOBP
(T1637S)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
+1 more
GUncertain significance
TRIOBP
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 28
+1 more
GBenign
TRIOBP
(R1225fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 28
GPathogenic
TRIOBP
(R448*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
GLikely pathogenic
TRIOBP
(R1072fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 28
+1 more
GPathogenic
TRIOBP
(R237W)
Single nucleotide variant
(missense variant)
TRIOBP-related condition
+2 more
GConflicting classifications of pathogenicity
TRIOBP
(A322S)
Single nucleotide variant
(missense variant)
TRIOBP-related condition
+2 more
GConflicting classifications of pathogenicity
TRIOBP
(Q498L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
TRIOBP
(E1495*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TRIOBP
(R1078fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 28
GPathogenic
TRIOBP
(R1072G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TRIOBP
(R399G)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TRIOBP
(L1154fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
TRIOBP
(R1025*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
TRIOBP
(R179P)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TRIOBP
(P1030R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
+1 more
GBenign
TRIOBP
(S826L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
+1 more
GBenign
TRIOBP
(R2008W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TRIOBP
(P1598A)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
+2 more
GConflicting classifications of pathogenicity
TRIOBP
Deletion
(inframe_deletion)
not provided
+1 more
GUncertain significance
TRIOBP
(P276S)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GLikely pathogenic
TRIOBP
(S44*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
GLikely pathogenic
TRIOBP
(S1175*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
GPathogenic
TRIOBP
(E1431*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
GPathogenic
TRIOBP
(G2183D +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TRIOBP
(D52N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
(Q645*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
TRIOBP
(L1212fs)
Deletion
(frameshift variant)
Hearing loss, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
TRIOBP
(R673K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TRIOBP
(S688R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TRIOBP
(F1187L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
TRIOBP
(S493N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TRIOBP
(N863K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
TRIOBP
(S217N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
TRIOBP
(G1672*)
Single nucleotide variant
(nonsense)
Hearing impairment
+3 more
GConflicting classifications of pathogenicity
TRIOBP
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
TRIOBP
Microsatellite
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
GLikely pathogenic
TRIO
(R1078W)
Single nucleotide variant
(missense variant +1 more)
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
+5 more
GConflicting classifications of pathogenicity
TRIOBP
(G1019R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GPathogenic
TRIOBP
(Q483*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
GPathogenic
TRIOBP
(S734F)
Single nucleotide variant
(missense variant)
TRIOBP-related condition
+3 more
GConflicting classifications of pathogenicity
TRIOBP
(G212S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TRIOBP
(H1300R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
+2 more
GBenign
TRIOBP
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
TRIOBP
(Q717E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TRIOBP
Insertion
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TRIOBP
(P428R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TRIOBP
Duplication
(intron variant)
not specified
+2 more
GBenign
TRIOBP
(R2172Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
+2 more
GConflicting classifications of pathogenicity
TRIOBP
(K1902T +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
+3 more
GUncertain significance
TRIOBP
(D168E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
TRIOBP
(R2287H +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TRIOBP
(Q398del)
Deletion
(inframe_deletion)
not provided
+2 more
GBenign
TRIOBP
(T195I)
Single nucleotide variant
(missense variant)
TRIOBP-related condition
+3 more
GBenign/Likely benign
TRIOBP
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
TRIOBP
(S2121L +1 more)
Single nucleotide variant
(missense variant)
TRIOBP-related condition
+3 more
GConflicting classifications of pathogenicity
TRIOBP
(R1344Q)
Single nucleotide variant
(missense variant)
TRIOBP-related condition
+3 more
GBenign/Likely benign
TRIOBP
(P89A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
TRIOBP
(T272K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TRIOBP
(W1377R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
TRIOBP
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
TRIOBP
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
TRIOBP
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
TRIOBP
(D1069fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 28
GPathogenic
TRIOBP
(R1117*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
TRIOBP
(R1068*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
GPathogenic
TRIOBP
(R788*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
GPathogenic
TRIOBP
(Q297*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
GPathogenic
TRIOBP
(Q581*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
GPathogenic
TRIOBP
(R347*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
+1 more
GPathogenic
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