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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
A4GNT, ACAD11
+345 more
Copy number loss
See cases
GPathogenic
A4GNT, AMOTL2
+301 more
Copy number loss
See cases
GPathogenic
LOC129937630, LOC129937631
+320 more
Copy number loss
See cases
GPathogenic
A4GNT, ARMC8
+221 more
Copy number loss
See cases
GPathogenic
A4GNT, ARMC8
+171 more
Copy number loss
See cases
GPathogenic
A4GNT, ARMC8
+155 more
Copy number loss
See cases
GPathogenic
ATP1B3, ATR
+107 more
Copy number loss
See cases
GPathogenic
TRPC1
(P7R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPC1
(S17F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPC1
(S22P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRPC1
(N29K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPC1
(D36N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRPC1
(V40G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPC1
(R35K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPC1
(N36H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPC1
(L165S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRPC1
(R169C +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRPC1
(S176F +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPC1
(I132V +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPC1
(A140V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRPC1
(S214T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHST2, DIPK2A
+49 more
Copy number loss
See cases
GUncertain significance
TRPC1
(S192C +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPC1
(E195K +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPC1
(I236S +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPC1
(Q290* +1 more)
Single nucleotide variant
(nonsense)
Malignant tumor of prostate
GUncertain significance
TRPC1
(F208L +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRPC1
(I345T +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRPC1
(L250F +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPC1
(R279C +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRPC1
(H349R +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRPC1
(R428H +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRPC1
(I103T +16 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRPC1
(A107T +16 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRPC1
(N114S +16 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRPC1
(I259M +16 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRPC1
(R443Q +16 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRPC1
(A448D +16 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MUC20, MUC4
+286 more
Duplication
not provided
GPathogenic
A4GNT, AADAC
+303 more
Copy number gain
not provided
GPathogenic
PLOD2, PLS1
+115 more
Copy number gain
Global developmental delay
GPathogenic
AADAC, AADACL2
+115 more
Copy number gain
See cases
GPathogenic
A4GNT, ARMC8
+54 more
Copy number gain
not provided
GPathogenic
ATR, PAQR9
+3 more
Copy number gain
See cases
GUncertain significance
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
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