U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 97

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHYHIP
(T154A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAM18, ADAM2
+150 more
Copy number gain
not specified
GPathogenic
ADAM18, ADAM2
+234 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
HR, MIR320A
+95 more
Copy number loss
not provided
GPathogenic
ADAM18, ADAM2
+176 more
Copy number gain
not provided
GPathogenic
ADAM28, ADAM7
+145 more
Copy number gain
not provided
GPathogenic
ADAM28, ADAM7
+140 more
Copy number gain
not provided
GPathogenic
SMIM18, SORBS3
+225 more
Copy number gain
not provided
GPathogenic
ADAM18, ADAM2
+180 more
Duplication
not provided
GPathogenic
BIN3, BMP1
+24 more
Duplication
not provided
GUncertain significance
LOC126860300, LOC126860301
+720 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ADAM28, ADAM7
+567 more
Copy number loss
Microcephaly
GPathogenic
PHYHIP
(P216A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAM28, ADAM7
+46 more
Copy number loss
not provided
GLikely pathogenic
PHYHIP
(H144Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126860324, PHYHIP
(E45D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHYHIP
(G157R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHYHIP
(A240V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126860324, PHYHIP
(N13K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHYHIP
(R277C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHYHIP
(Q89P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHYHIP
(Q161R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDCA2, CLDN23
+250 more
Complex
See cases
GPathogenic
ADAM28, ADAM7
+180 more
Copy number loss
See cases
GPathogenic
ADAMDEC1, ADGRA2
+251 more
Complex
8p inverted duplication/deletion syndrome
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
BMP1, DMTN
+16 more
Copy number gain
not specified
GUncertain significance
BIN3, BMP1
+32 more
Duplication
Conotruncal heart malformations
GUncertain significance
PIWIL2, STC1
+55 more
Copy number gain
not provided
GPathogenic
SPAG11A, STMN4
+252 more
Copy number gain
Abnormal fetal cardiovascular morphology
GPathogenic
ADAM28, ADAM7
+104 more
Copy number gain
not provided
GLikely pathogenic
ADAM28, BIN3
+37 more
Copy number loss
not provided
GPathogenic
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
BIN3, BMP1
+24 more
Copy number gain
not provided
GUncertain significance
BMP1, DMTN
+15 more
Copy number loss
not provided
GUncertain significance
BMP1, DMTN
+16 more
Copy number gain
not provided
GUncertain significance
ADAM28, ADAM7
+124 more
Duplication
not provided
GLikely pathogenic
ADAM28, ADAM7
+123 more
Copy number gain
not provided
GLikely pathogenic
ADAM28, ADAM7
+124 more
Copy number gain
not provided
GPathogenic
ADAM28, ADAM7
+136 more
Copy number gain
not provided
GPathogenic
DLC1, DMTN
+111 more
Copy number gain
not provided
GPathogenic
ADAM28, ADAM7
+77 more
Copy number gain
Autism
+7 more
GPathogenic
ASAH1-AS1, ATP6V1B2
+129 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+593 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+186 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+123 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM28
+151 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
FGF20, FGFR1
+665 more
Copy number gain
See cases
GPathogenic
BIN3, BMP1
+22 more
Copy number gain
See cases
GUncertain significance
LEPROTL1, LGI3
+109 more
Copy number loss
not provided
Gnot provided
ADAM28, ADAM7
+68 more
Copy number loss
See cases
GPathogenic
SCRT1, SCX
+665 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+180 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+82 more
Copy number gain
See cases
GPathogenic
ADAM28, EXTL3
+73 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+773 more
Copy number loss
See cases
GPathogenic
LOC129999967, LOC129999968
+870 more
Copy number gain
See cases
GPathogenic
LOC130000303, LOC130000304
+922 more
Copy number gain
See cases
GPathogenic
LOC124153144, LOC124153145
+818 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+532 more
Copy number loss
See cases
GPathogenic
LOC132089588, LOC132089589
+510 more
Copy number loss
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
LOC130000099, LOC130000100
+1040 more
Copy number gain
See cases
GPathogenic
DPYSL2, DUSP26
+1020 more
Copy number gain
See cases
GPathogenic
LOC113788268, LOC113788269
+929 more
Copy number gain
See cases
GPathogenic
LOC130000050, LOC130000051
+791 more
Copy number gain
See cases
GPathogenic
LOC126860319, LOC126860320
+696 more
Copy number gain
See cases
GPathogenic
LOC129999950, LOC129999951
+996 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+499 more
Copy number gain
See cases
GPathogenic
LOC128772328, LOC129389957
+653 more
Copy number gain
See cases
GPathogenic
LOC130000032, LOC130000033
+1105 more
Copy number gain
See cases
GPathogenic
LOC130000106, LOC130000107
+937 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+567 more
Copy number gain
See cases
GPathogenic
LOC113788272, LOC113788273
+807 more
Copy number gain
See cases
GPathogenic
LOC129999950, LOC129999951
+736 more
Copy number gain
See cases
GPathogenic
LOC129999940, LOC129999941
+687 more
Copy number gain
See cases
GPathogenic
KAT6A-AS1, KCNU1
+929 more
Copy number gain
See cases
GPathogenic
LOC130000241, LOC130000242
+934 more
Copy number gain
See cases
GPathogenic
BIN3, BIN3-IT1
+119 more
Copy number gain
See cases
GPathogenic
LOC130000309, LOC130000310
+900 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+523 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
LOC130000074, LOC130000075
+929 more
Copy number gain
See cases
GPathogenic
TNFRSF10A, TNFRSF10A-DT
+705 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+979 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+665 more
Copy number gain
See cases
GPathogenic
LOC130000012, LOC130000013
+857 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+870 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
XKR5, XKR6
+773 more
Copy number loss
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination