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Items: 1 to 100 of 127

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD3, ACAA2
+1646 more
Copy number gain
See cases
GPathogenic
LOC126862711, LOC126862712
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062667, LOC130062668
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062278, LOC130062279
+1643 more
Copy number gain
See cases
GPathogenic
LOC126862732, LOC126862733
+1643 more
Copy number gain
See cases
GPathogenic
ANKRD12, ANKRD29
+1642 more
Copy number gain
See cases
GPathogenic
SERPINB12, SERPINB13
+1643 more
Copy number gain
See cases
GPathogenic
LOC125368553, LOC125368554
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062355, LOC130062356
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+378 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+282 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+204 more
Copy number gain
See cases
GPathogenic
LOC126862717, LOC126862718
+1266 more
Copy number gain
See cases
GPathogenic
LOC132090510, LOC132090511
+1089 more
Copy number gain
See cases
GPathogenic
LOC132211113, LOC132211114
+1266 more
Copy number gain
See cases
GPathogenic
LINC01894, LINC01915
+57 more
Copy number gain
See cases
GUncertain significance
LOC130062319, TAF4B
(T6I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130062319, TAF4B
(A16V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130062319, TAF4B
(E36K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130062319, TAF4B
(G43D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130062319, TAF4B
(A44P)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
LOC130062319, TAF4B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
TAF4B
(T57A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(S64Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(V66M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(S83I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(P89S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TAF4B
(P107A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(P113L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(A152T)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TAF4B
(A152V)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TAF4B
(P163L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(S165C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(Q183L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
TAF4B
(S197A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(V198I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(V208I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(P212L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TAF4B
(E242K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(I249V)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TAF4B
(N250D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(P253L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(V259L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(A296T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TAF4B
(S313A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
Single nucleotide variant
(intron variant)
not provided
GBenign
TAF4B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
TAF4B
(Q332R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TAF4B
Single nucleotide variant
(synonymous variant +1 more)
TAF4B-related disorder
GLikely benign
TAF4B
(Q342R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(A355V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
TAF4B
(S373A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(Q375H)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TAF4B
(T386A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
TAF4B
(S392T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(Q394R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(Q394H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(A400S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(A407V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(T418A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
TAF4B
(V438L)
Single nucleotide variant
(missense variant +1 more)
TAF4B-related disorder
GBenign
TAF4B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TAF4B
(S449L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(P455R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(T460I)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TAF4B
(P467A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(C480F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(P498S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(P503L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(P511L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(G537E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(E540A +1 more)
Single nucleotide variant
(missense variant +1 more)
TAF4B-related disorder
GLikely benign
TAF4B
(V543L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(T545A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(V564A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TAF4B
(I572V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
TAF4B
(P579T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(P574L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(G586V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(L595M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(R611* +1 more)
Single nucleotide variant
(nonsense +1 more)
Spermatogenic failure 13
GPathogenic
TAF4B
Deletion
(intron variant)
TAF4B-related disorder
GLikely benign
TAF4B
(E613D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(I657V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
Single nucleotide variant
(synonymous variant +1 more)
TAF4B-related disorder
GBenign
TAF4B
(D666G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(L681V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(S683P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(S690C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(T705S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(T700I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(H705Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(H710N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(H710R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAF4B
(S756C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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