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Items: 1 to 100 of 130

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129932539, LOC129932540
+1148 more
Copy number gain
See cases
GPathogenic
LOC129388734, LOC129388735
+723 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1428 more
Copy number gain
See cases
GPathogenic
LOC126806029, LOC129932471
+720 more
Copy number loss
Orofacial cleft 2
Gassociation
LOC120908923, LOC120947224
+1352 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1326 more
Copy number gain
See cases
GPathogenic
HHAT
(R10T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HHAT
(G14E)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HHAT
Single nucleotide variant
(synonymous variant +2 more)
HHAT-related disorder
GLikely benign
HHAT
(R21G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
HHAT
Single nucleotide variant
(synonymous variant +2 more)
HHAT-related disorder
GLikely benign
HHAT
(M1L)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GLikely pathogenic
HHAT
(M1I)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
HHAT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
HHAT
(Y23C)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
HHAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HHAT
Duplication
(intron variant)
not provided
GBenign
HHAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HHAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HHAT
(G49R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HHAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HHAT
Single nucleotide variant
(intron variant)
not provided
GBenign
HHAT
(A56V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HHAT
(T57N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HHAT
(T86P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHAT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HHAT
(C108F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HHAT
(P112L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HHAT
(A115D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HHAT
(T122del +1 more)
Microsatellite
(inframe_deletion +1 more)
Chondrodysplasia-pseudohermaphroditism syndrome
GUncertain significance
HHAT
(Q129R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HHAT
(R132W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HHAT
(T136M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HHAT
(L142V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HHAT
(V153M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HHAT
(V155I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HHAT
(R158T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HHAT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
HHAT
(R111C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
HHAT
(R176H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HHAT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
HHAT
(T116S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HHAT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
HHAT
(S117N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
HHAT
(C123R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
HHAT
(P194R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HHAT
(S196L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HHAT
(F144Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HHAT
(Y145H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HHAT
(G152R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HHAT
(F157L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HHAT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
HHAT
Single nucleotide variant
(intron variant)
not provided
GBenign
HHAT
Single nucleotide variant
(intron variant)
not provided
GBenign
HHAT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HHAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HHAT
(L257P +3 more)
Single nucleotide variant
(missense variant)
Chondrodysplasia-pseudohermaphroditism syndrome
GPathogenic
HHAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HHAT
(E194K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHAT
(H264Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
HHAT
(L127P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HHAT
(G287V +3 more)
Single nucleotide variant
(missense variant)
Chondrodysplasia-pseudohermaphroditism syndrome
GPathogenic
HHAT
(V241M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHAT
(A309T +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
HHAT
(M312T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHAT
(R312C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHAT
(R247H +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
HHAT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HHAT
(P257L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHAT
(R258C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHAT
(S330T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HHAT
(G333R +3 more)
Single nucleotide variant
(missense variant)
Chondrodysplasia-pseudohermaphroditism syndrome
+1 more
GBenign/Likely benign
HHAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HHAT
(H206Y +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HHAT
(G290S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HHAT
(F229L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHAT
(T231M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHAT
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
HHAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HHAT
(T306I +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
HHAT
(W241* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HHAT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HHAT
(D246G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHAT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HHAT
(A390V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHAT
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
HHAT
(G264R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HHAT
(R266W +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HHAT
(R266Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HHAT
Single nucleotide variant
(intron variant)
not provided
GBenign
HHAT
Duplication
(intron variant)
not provided
GLikely benign
HHAT
(R352Q +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
HHAT
(R287C +3 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
HHAT
(R360H +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HHAT
(H428Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HHAT
Single nucleotide variant
(synonymous variant)
HHAT-related disorder
GLikely benign
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