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Items: 1 to 100 of 215

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADTRP, ATXN1
+825 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+260 more
Copy number loss
See cases
GPathogenic
LINC02521, LINC02525
+281 more
Copy number gain
See cases
GPathogenic
LOC129995681, LOC129995682
+643 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+314 more
Copy number loss
See cases
GPathogenic
LOC129995664, LOC129995665
+309 more
Copy number loss
See cases
GPathogenic
BPHL, C6orf201
+309 more
Copy number gain
See cases
GLikely pathogenic
BPHL, C6orf201
+289 more
Copy number loss
See cases
GPathogenic
ADTRP, ATXN1
+779 more
Copy number gain
See cases
GPathogenic
ADTRP, BLOC1S5
+612 more
Copy number loss
See cases
GPathogenic
LOC129995778, LOC129995779
+559 more
Copy number gain
See cases
GLikely pathogenic
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
LOC129995586, LOC129995587
+257 more
Copy number gain
See cases
GUncertain significance
LOC123575648, LOC123575649
+257 more
Copy number loss
See cases
GPathogenic
BPHL, C6orf201
+347 more
Copy number loss
See cases
GPathogenic
SLC35B3, SMIM13
+510 more
Copy number gain
See cases
GLikely pathogenic
BPHL, DUSP22
+213 more
Copy number loss
See cases
GPathogenic
BLOC1S5, BLOC1S5-TXNDC5
+437 more
Copy number gain
See cases
GPathogenic
LOC129389433, LOC129995519
+303 more
Copy number loss
See cases
GPathogenic
LOC129995673, LOC129995674
+307 more
Copy number loss
See cases
GPathogenic
LOC129995802, LOC129995803
+573 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+302 more
Copy number loss
See cases
GPathogenic
BPHL, C6orf201
+312 more
Copy number loss
See cases
GPathogenic
LOC123575663, LOC123575664
+433 more
Copy number loss
See cases
GPathogenic
ADTRP, BLOC1S5
+537 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+140 more
Inversion
Anophthalmia-microphthalmia syndrome
GLikely pathogenic
BPHL, GMDS-DT
+76 more
Copy number gain
See cases
GUncertain significance
ADTRP, ATXN1
+617 more
Copy number loss
See cases
GPathogenic
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
SERPINB6
(R376H +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINB6
(G385V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SERPINB6
(G380E +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINB6
(G322R +4 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 91
+2 more
GUncertain significance
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
SERPINB6
(H317R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SERPINB6
(R348C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SERPINB6
(V350I +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
SERPINB6
(R360Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINB6
(M296del +4 more)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
SERPINB6
(A289T +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
SERPINB6
(T332M +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINB6
(F339L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SERPINB6
(V272M +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SERPINB6
(K318R +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
SERPINB6
(D257N +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SERPINB6
(A250D +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINB6
(M291I +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SERPINB6
(R243H +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINB6
(M286T +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SERPINB6
(R277W +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
SERPINB6
(P272L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SERPINB6
(M217V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SERPINB6
(T271M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
SERPINB6
(E245* +4 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 91
GPathogenic
SERPINB6
Single nucleotide variant
(splice acceptor variant)
not provided
Gnot provided
SERPINB6
Single nucleotide variant
(intron variant)
not specified
GLikely benign
SERPINB6
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 91
+1 more
GBenign
SERPINB6
(T199M +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINB6
(R242K +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SERPINB6
(P254L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SERPINB6
(E231* +4 more)
Single nucleotide variant
(nonsense +1 more)
Rare genetic deafness
GLikely pathogenic
SERPINB6
(I167V +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINB6
(T223I +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SERPINB6
Single nucleotide variant
(intron variant)
not provided
GBenign
SERPINB6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SERPINB6
Deletion
(intron variant)
not provided
GLikely benign
SERPINB6
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 91
+1 more
GBenign
SERPINB6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SERPINB6
(E180V +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINB6
(Y168C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SERPINB6
(P113L +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
SERPINB6
(S158A +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
SERPINB6
(G157S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
SERPINB6
(P152L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SERPINB6
(L105F +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
SERPINB6
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
SERPINB6
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 91
+1 more
GBenign
SERPINB6
Single nucleotide variant
(intron variant)
not provided
GBenign
SERPINB6
Single nucleotide variant
(intron variant)
not provided
GBenign
SERPINB6
Single nucleotide variant
(intron variant)
not provided
GBenign
SERPINB6
Single nucleotide variant
(intron variant)
not provided
GBenign
SERPINB6
Single nucleotide variant
(intron variant)
not provided
GBenign
SERPINB6
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SERPINB6
(T142A +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
SERPINB6
(E128G +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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