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Links from PMC

Items: 81

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 provided
+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 specified
+1 more
GConflicting classifications of pathogenicity
USH2A
(V3087I)
Single nucleotide variant
(missense variant)
not provided
+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)
Autosomal recessive nonsyndromic hearing loss 3
+1 more
GConflicting classifications of pathogenicity
COL4A5
(P1329S +1 more)
Single nucleotide variant
(missense variant)
not specified
+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
MYO15A
(E1406K)
Single nucleotide variant
(missense variant)
Childhood onset hearing loss
+2 more
GConflicting classifications of pathogenicity
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)
not specified
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(D680G)
Single nucleotide variant
(missense variant +1 more)
not provided
+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)
not provided
+3 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)
Usher syndrome type 1
+2 more
GUncertain significance
ADGRV1
(L4112W)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(V2157M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 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 specified
+4 more
GUncertain significance
USH2A
(Y4673H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
COL4A3, MFF-DT
(G943R)
Single nucleotide variant
(missense variant)
Alport syndrome
+2 more
GUncertain significance
USH2A
(G3618S)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+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)
not provided
+2 more
GUncertain significance
USH2A
(P560A)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+5 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(P432L)
Single nucleotide variant
(missense variant)
Hearing impairment
+5 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(G157R)
Single nucleotide variant
(missense variant)
Alport syndrome
+4 more
GUncertain significance
MYO7A
(R2079W +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
USH2A
(T1539I)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS1
(T1357M)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+3 more
GUncertain significance
PCDH15
(R278H +3 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+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)
Autosomal recessive nonsyndromic hearing loss 12
+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)
not provided
+1 more
GPathogenic
TMPRSS3
(G94R)
Single nucleotide variant
(missense variant +1 more)
not specified
+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)
Stickler Syndrome, Dominant
+5 more
GBenign/Likely benign
MYO15A
(Y224C)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 3
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(V1171M +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 21
+3 more
GConflicting classifications of pathogenicity
GJB2
(G59fs)
Deletion
(frameshift variant)
not specified
+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 specified
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(L1439I +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 21
+3 more
GConflicting classifications of pathogenicity
USH2A
(N2334D)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
USH2A
(T3667P)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+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)
Treacher Collins syndrome 1
+1 more
GConflicting classifications of pathogenicity
SLC17A8
(A374S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 25
+1 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)
Otofaciocervical syndrome 1
+5 more
GConflicting classifications of pathogenicity
EYA1
(G224V +5 more)
Single nucleotide variant
(missense variant)
Branchiootorenal syndrome 1
+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)
Connective tissue disorder
+8 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)
Autosomal recessive nonsyndromic hearing loss 3
+2 more
GConflicting classifications of pathogenicity
COL11A1
(F872I +3 more)
Single nucleotide variant
(missense variant +1 more)
Stickler syndrome type 2
+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)
Retinitis pigmentosa 39
+4 more
GConflicting classifications of pathogenicity
WFS1
(A150V)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+2 more
GConflicting classifications of pathogenicity
PCDH15
(R962C +6 more)
Single nucleotide variant
(missense variant)
not provided
+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)
Usher syndrome
+4 more
GConflicting classifications of pathogenicity
USH2A
(N2356K)
Single nucleotide variant
(missense variant)
not provided
+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)
Kidney disorder
+3 more
GConflicting classifications of pathogenicity
CDH23
(P240L)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
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