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Items: 89

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
ABHD10, ABI3BP
+431 more
Copy number loss
See cases
GPathogenic
TRAT1, TRMT10C
+638 more
Copy number loss
See cases
GPathogenic
CCDC54-AS1, LOC123002328
+682 more
Copy number loss
Chromosome 3q13.31 deletion syndrome
GPathogenic
ABHD10, ABI3BP
+398 more
Copy number loss
See cases
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC132088858, LOC132088860
+248 more
Copy number gain
See cases
GPathogenic
ABHD10, ATG3
+186 more
Copy number loss
See cases
GPathogenic
LOC129937247, LOC129937248
+127 more
Copy number loss
See cases
GPathogenic
ATG3, ATP6V1A
+106 more
Copy number loss
See cases
GPathogenic
GAP43, GRAMD1C
+105 more
Copy number loss
See cases
GPathogenic
LOC129937275, LOC129937276
+105 more
Copy number loss
See cases
GLikely pathogenic
ATG3, ATP6V1A
+105 more
Copy number loss
See cases
GPathogenic
ADPRH, ARHGAP31
+191 more
Copy number loss
See cases
GPathogenic
LOC129937460, LOC129937461
+571 more
Copy number loss
See cases
GPathogenic
CCDC191, ZDHHC23
(E896K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191, ZDHHC23
(V890I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191, ZDHHC23
(P886S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191, ZDHHC23
(R896Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191, ZDHHC23
(E872K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191, ZDHHC23
(D833N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191, ZDHHC23
(V839M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191, ZDHHC23
(K817Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191, ZDHHC23
(I801V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191, ZDHHC23
(L797P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191, ZDHHC23
(Y806D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191, ZDHHC23
(A787V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191, ZDHHC23
(R790H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191, ZDHHC23
(F766S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191, ZDHHC23
(M762L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CCDC191, ZDHHC23
(H752Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(R737G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(L748F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(R691Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(R675H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(C671Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(E657G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(A656V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(P643L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(R645G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(Q606R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(S604N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(A574S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(E557K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(R533C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191, LOC129937265
(L515R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(S470N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(K419M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(R408G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(A393T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(Y396H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CCDC191
(N387K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(R306W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(E279G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(E265D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(T244A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(E259Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(E211Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(V231E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(D165E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(M149V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(Q132K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(E127G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(K123R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CCDC191
(S99I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(E89K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191
(S54N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191, LOC129937266
(P27L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CCDC191, LOC129937266
(R19L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CCDC191, LOC129937266
(M15V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC191, LOC129937266
(L3P)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ABHD10, ATG3
+31 more
Copy number loss
not provided
GUncertain significance
ABHD10, ATG3
+34 more
Copy number loss
Chromosome 3q13.31 deletion syndrome
GPathogenic
ATP6V1A, CCDC191
+7 more
Duplication
not provided
GUncertain significance
ATP6V1A, CCDC191
+12 more
Deletion
not provided
GPathogenic
ABHD10, ATG3
+49 more
Copy number loss
not provided
GPathogenic
ABHD10, ATG3
+51 more
Copy number loss
Chromosome 3q13.31 deletion syndrome
GPathogenic
ATG3, ATP6V1A
+22 more
Copy number loss
not specified
GPathogenic
CCDC191, DRD3
+6 more
Copy number loss
Chromosome 3q13.31 deletion syndrome
GPathogenic
CD200R1L, CCDC191
+22 more
Copy number gain
not provided
GPathogenic
ATP6V1A, CCDC191
+13 more
Copy number loss
See cases
GPathogenic
CCDC191, DRD3
+6 more
Copy number gain
not provided
GUncertain significance
BOC, CCDC191
+22 more
Copy number loss
not provided
GPathogenic
ATP6V1A, TIGIT
+25 more
Copy number loss
not provided
GPathogenic
ABHD10, ATG3
+34 more
Copy number loss
not provided
GPathogenic
ATP6V1A, BOC
+18 more
Copy number loss
See cases
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ABHD10, ALCAM
+53 more
Copy number loss
See cases
GPathogenic
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