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Items: 1 to 100 of 746

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
KCNH1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
KCNH1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
KCNH1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
KCNH1
(S962R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH1
(A961G +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
KCNH1
(A961S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
KCNH1
(F959S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(D957E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(R956fs +1 more)
Microsatellite
(frameshift variant)
not provided
GLikely benign
KCNH1
(D957H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(R956G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(S954* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
KCNH1
(S954* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GLikely benign
KCNH1
(S981L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(S954A +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely benign
KCNH1
(P952S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(Q950R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH1
(P976L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH1
(S947L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KCNH1
(F944C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(F944L +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
KCNH1
(L943W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(E969* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
KCNH1
(E969K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(Q941R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH1
(Q965R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(Q938fs +1 more)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
KCNH1
(S937fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
KCNH1
(L928H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
Indel
(missense variant)
Zimmermann-Laband syndrome 1
GUncertain significance
KCNH1
(E926Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(L924F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(E948D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(I920V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(N919S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH1
(M917I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(K916N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(A915T +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
KCNH1
(K911Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(K907E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(L933M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(E905K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH1
(R903G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(L900V +1 more)
Single nucleotide variant
(missense variant)
KCNH1-related disorder
+1 more
GConflicting classifications of pathogenicity
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KCNH1
(A924D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(Q896P +1 more)
Single nucleotide variant
(missense variant)
Zimmermann-Laband syndrome 1
+2 more
GBenign/Likely benign
KCNH1
(L922V +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH1
(T894M +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KCNH1
(P891S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH1
(S913L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(H885P +1 more)
Single nucleotide variant
(missense variant)
Temple-Baraitser syndrome
GUncertain significance
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH1
(V883F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(V883I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH1
(E882A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNH1
(R876Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(R876G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(R876W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(D902H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(D875N +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
KCNH1
(S899G +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
KCNH1
(A870T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(G868D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH1
(V867G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(V867M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
KCNH1
(V867L +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
KCNH1
(R890H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(L862S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
(D888N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
KCNH1
(K859N +1 more)
Single nucleotide variant
(missense variant)
Zimmermann-Laband syndrome 1
GUncertain significance
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH1
(G856S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH1
Microsatellite
(nonsense)
not provided
GLikely benign
KCNH1
(C853Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
KCNH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH1
(S879L +1 more)
Single nucleotide variant
(missense variant)
KCNH1 associated disorder
+1 more
GUncertain significance
KCNH1
(K876Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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