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Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMPRSS3
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
MYO15A
(E1610K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CDH23
Deletion
not provided
GPathogenic
TCOF1
(R889H +1 more)
Single nucleotide variant
(missense variant)
Treacher Collins syndrome 1
GUncertain significance
TMPRSS3
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
ADGRV1
(S1568N)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(N6201H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
USH2A
(V3087I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(L199fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
MYO15A
(I3421M)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MYO15A
(R1993W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
COL4A5
(P1329S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO3A
(H142Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
+2 more
GConflicting classifications of pathogenicity
COL9A1
(G510S +3 more)
Single nucleotide variant
(missense variant +1 more)
Stickler syndrome, type 4
+1 more
GUncertain significance
MYO6
(R654* +1 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
GPathogenic
ESRRB
(R200H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRV1
(I4773M)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(D680G)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
MYH14
(E1594K +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CDH23
(R1588W)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
+2 more
GConflicting classifications of pathogenicity
PCDH15
(G78R +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PCDH15
(P315L +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
ADGRV1
(L4112W)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(V2157M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ESRRB
(R159C +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TRIOBP
(D52N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(R675C +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
USH2A
(Y4673H)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+4 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(G943R)
Single nucleotide variant
(missense variant)
Alport syndrome
+2 more
GUncertain significance
USH2A
(G3618S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
USH2A
(S69I)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
MYO7A
(E1641K +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+2 more
GUncertain significance
USH2A
(P560A)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(P432L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(G157R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYO7A
(R2079W +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 11
+3 more
GUncertain significance
USH2A
(T1539I)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+4 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS1
(T1357M)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+3 more
GUncertain significance
PCDH15
(R278H +3 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+5 more
GUncertain significance
ADGRV1
(Y4235C)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+3 more
GConflicting classifications of pathogenicity
CDH23
(R2382Q +1 more)
Single nucleotide variant
(missense variant)
Pituitary adenoma 5, multiple types
+4 more
GConflicting classifications of pathogenicity
ADGRV1
(I4666V)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
SLC26A4
Single nucleotide variant
(intron variant)
Pendred syndrome
+2 more
GPathogenic
SLC26A4
(S551fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GPathogenic
TMPRSS3
(G94R)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 8
+2 more
GUncertain significance
TMPRSS3
(R106C)
Single nucleotide variant
(missense variant +1 more)
Hearing impairment
+3 more
GPathogenic/Likely pathogenic
COL11A2
(P1422L +2 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
TBCEL-TECTA, TECTA
(V1171M +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+3 more
GConflicting classifications of pathogenicity
GJB2
(G59fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
LOC126863145, TRIOBP
(R1840H +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
STRC
(R972W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EDN3
(T185M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(L1439I +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+4 more
GConflicting classifications of pathogenicity
USH2A
(N2334D)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+3 more
GConflicting classifications of pathogenicity
USH2A
(T3667P)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GConflicting classifications of pathogenicity
TRIOBP
(R2287H +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TMPRSS3
(F71S)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
TCOF1
(Q782E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC17A8
(A374S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
+2 more
GConflicting classifications of pathogenicity
MYO3A
(Q283P)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
EYA1
(G135S +4 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
EYA1
(G224V +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL4A4
(D682G)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+2 more
GUncertain significance
COL11A2
(G230W)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
BSND
(G298E)
Single nucleotide variant
(missense variant)
Bartter disease type 4A
+1 more
GConflicting classifications of pathogenicity
MYO15A
(R1993Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A1
(F872I +3 more)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+4 more
GBenign
USH1C
(R63Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
+3 more
GUncertain significance
PCDH15
(G1151R +6 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 23
+5 more
GBenign/Likely benign
USH2A
(T3635N)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GConflicting classifications of pathogenicity
WFS1
(A150V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PCDH15
(R962C +6 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(R599S)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+2 more
GConflicting classifications of pathogenicity
USH2A
(P5078R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+3 more
GConflicting classifications of pathogenicity
USH2A
(N2356K)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+3 more
GConflicting classifications of pathogenicity
USH2A
(R626Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
USH1C
(R431W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
COL4A5
(G953V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CDH23
(P240L)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
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