U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 1 to 100 of 184

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
YES1
(A87G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(D364E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(I304V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(Q430R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(S355N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(M324R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(Y32C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(N219S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(A148V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(I134V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(V81M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(F78L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(T450I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(A413T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(P343R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCYAP1, AKAIN1
+28 more
Copy number loss
not specified
GPathogenic
ADCYAP1, AFG3L2
+63 more
Copy number loss
not specified
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number loss
not specified
GPathogenic
ADCYAP1, AKAIN1
+19 more
Copy number loss
not specified
GPathogenic
ADCYAP1, AKAIN1
+38 more
Copy number loss
not specified
GPathogenic
ADCYAP1, AFG3L2
+63 more
Copy number gain
not specified
GPathogenic
ADCYAP1, AFG3L2
+63 more
Copy number gain
not specified
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number gain
not specified
GPathogenic
ADCYAP1, AKAIN1
+28 more
Copy number loss
not provided
GPathogenic
ADCYAP1, AFG3L2
+64 more
Copy number loss
not provided
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number gain
not provided
GPathogenic
YES1
(K113Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
YES1
(R274Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCYAP1, AFG3L2
+367 more
Copy number loss
Deletion of short arm of chromosome 18
GPathogenic
YES1
(T241R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(K411R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCYAP1, AFG3L2
+65 more
Copy number loss
Deletion of short arm of chromosome 18
GPathogenic
YES1
(I95V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(P36L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(Y336H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(G67R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(Q229R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(R199C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(I387T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YES1
(E520G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCYAP1, CETN1
+10 more
Copy number loss
not provided
GUncertain significance
ADCYAP1, AKAIN1
+26 more
Copy number loss
not provided
GPathogenic
ADCYAP1, AKAIN1
+41 more
Copy number loss
not provided
GPathogenic
DLGAP1, DLGAP1-AS2
+29 more
Copy number loss
not provided
GPathogenic
METTL4, MPPE1
+64 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AKAIN1
+26 more
Copy number loss
Deletion of short arm of chromosome 18
GPathogenic
ADCYAP1, AKAIN1
+38 more
Copy number loss
Deletion of short arm of chromosome 18
GPathogenic
CABYR, CBLN2
+267 more
Copy number gain
Trisomy 18
GPathogenic
FAM210A, LAMA1
+65 more
Copy number gain
not provided
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
not specified
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number gain
not specified
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number loss
not specified
GPathogenic
ADCYAP1, AFG3L2
+63 more
Copy number gain
not specified
GPathogenic
TUBB6, TWSG1
+58 more
Copy number loss
not specified
GPathogenic
ADCYAP1, AKAIN1
+24 more
Copy number loss
not specified
GPathogenic
ADCYAP1, CLUL1
+4 more
Copy number gain
not provided
GLikely benign
ADCYAP1, CETN1
+11 more
Copy number loss
not provided
GUncertain significance
ABHD3, ADCYAP1
+95 more
Copy number gain
not provided
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number loss
Deletion of short arm of chromosome 18
GPathogenic
ADCYAP1, CETN1
+19 more
Copy number loss
not provided
GUncertain significance
CETN1, CLUL1
+25 more
Copy number loss
not provided
GPathogenic
TYMSOS, TYMS
+8 more
Copy number gain
See cases
GUncertain significance
MYOM1, USP14
+17 more
Copy number loss
not provided
GPathogenic
TYMS, ADCYAP1
+8 more
Copy number loss
not provided
GUncertain significance
ENOSF1, TYMS
+5 more
Copy number loss
not provided
GUncertain significance
ADCYAP1, YES1
Copy number loss
not provided
GUncertain significance
TYMSOS, COLEC12
+8 more
Copy number gain
not provided
GUncertain significance
NDC80, THOC1
+10 more
Copy number loss
not provided
GUncertain significance
CETN1, ENOSF1
+5 more
Copy number gain
not provided
GLikely benign
MYL12B, FAM210A
+65 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number loss
not provided
GPathogenic
MC2R, ZBTB14
+65 more
Copy number loss
not provided
GPathogenic
CEP192, TUBB6
+65 more
Copy number loss
not provided
GPathogenic
RAB12, RAB31
+62 more
Copy number loss
not provided
GPathogenic
ZBTB14, MYL12A
+19 more
Copy number loss
not provided
GPathogenic
METTL4, MYL12B
+22 more
Copy number loss
not provided
GPathogenic
MYOM1, SMCHD1
+18 more
Copy number loss
not provided
GPathogenic
CETN1, ADCYAP1
+5 more
Copy number gain
not provided
GLikely benign
ADCYAP1, CETN1
+8 more
Copy number loss
not provided
GUncertain significance
ENOSF1, ADCYAP1
+1 more
Copy number gain
not provided
GLikely benign
TYMS, YES1
+5 more
Copy number gain
not provided
GLikely benign
ADCYAP1, CETN1
+5 more
Copy number loss
not provided
GUncertain significance
ENOSF1, TYMS
+1 more
Copy number gain
not provided
GUncertain significance
ADCYAP1, CETN1
+8 more
Copy number gain
not provided
GUncertain significance
ADCYAP1, CLUL1
+4 more
Copy number gain
not provided
GUncertain significance
ADCYAP1, CETN1
+5 more
Copy number gain
not provided
GUncertain significance
CETN1, CLUL1
+4 more
Copy number loss
not provided
GUncertain significance
ADCYAP1, CETN1
+8 more
Deletion
Neurodevelopmental disorder
GPathogenic
NDUFV2, POTEC
+65 more
Copy number gain
not provided
GPathogenic
DLGAP1, ZNF519
+65 more
Copy number loss
not provided
GPathogenic
PSMG2, SMCHD1
+65 more
Copy number gain
not provided
GPathogenic
DLGAP1-AS2, SMCHD1
+54 more
Copy number loss
not provided
GPathogenic
LRRC30, USP14
+38 more
Copy number loss
not provided
GPathogenic
TMEM200C, COLEC12
+28 more
Copy number loss
not provided
GPathogenic
LPIN2, SMCHD1
+19 more
Copy number loss
not provided
GPathogenic
ADCYAP1, TYMSOS
+8 more
Copy number gain
not provided
GUncertain significance
YES1, ADCYAP1
+5 more
Copy number loss
not provided
GLikely benign
ADCYAP1, AKAIN1
+27 more
Duplication
not provided
GPathogenic
ADCYAP1, CETN1
+36 more
Deletion
Autism
GLikely pathogenic
GNAL, IMPA2
+65 more
Copy number loss
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination