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Links from Gene

Items: 1 to 100 of 146

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSANTD1
(A236T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(P191L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(R246H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(G22S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ABLIM2, ACOX3
+83 more
Deletion
not provided
GPathogenic
ADD1, DOK7
+21 more
Deletion
not provided
GPathogenic
ADD1, DOK7
+21 more
Duplication
not provided
GUncertain significance
ADD1, DOK7
+8 more
Deletion
Congenital myasthenic syndrome 10
+1 more
GPathogenic
MSANTD1
(V20M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(R3C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MSANTD1
(E183D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(R168C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(Q162R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(S146P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(R76C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM2, ACOX3
+140 more
Copy number loss
not specified
GPathogenic
ABLIM2, ACOX3
+120 more
Copy number loss
not specified
GPathogenic
ADD1, ADRA2C
+58 more
Copy number loss
not specified
GPathogenic
ADD1, ADRA2C
+82 more
Copy number loss
not specified
GPathogenic
ADD1, ATP5ME
+51 more
Copy number loss
not specified
GPathogenic
ABLIM2, ACOX3
+143 more
Copy number loss
not specified
GPathogenic
ABLIM2, ACOX3
+226 more
Copy number gain
not specified
GPathogenic
MSANTD1, MSX1
+117 more
Copy number loss
not provided
GPathogenic
ADD1, ADRA2C
+79 more
Copy number gain
not provided
GPathogenic
MSANTD1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
USP17L24, USP17L25
+132 more
Copy number loss
not provided
GPathogenic
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC129992261, LOC129992262
+962 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC123477714, LOC123477715
+1267 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
RNF212, RNF4
+162 more
Copy number gain
4p16.3 microduplication syndrome
GPathogenic
MSANTD1
(S15C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MSANTD1
(E170K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(E166K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(R246C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(K217N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(R168H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(G17S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(S277R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(A13V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FGFRL1, GAK
+46 more
Duplication
Fibrous dysplasia of jaw
GUncertain significance
MSANTD1
(G6R)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
MSANTD1
(P7Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MSANTD1
(E124G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(K218Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM2, ACOX3
+117 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+117 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+226 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+143 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+63 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+212 more
Copy number gain
FETAL DEMISE
GPathogenic
ADRA2C, BLOC1S4
+181 more
Deletion
not provided
GLikely pathogenic
ADD1, ATP5ME
+46 more
Deletion
Fibrous dysplasia of jaw
GUncertain significance
ADD1, DOK7
+8 more
Duplication
not provided
GUncertain significance
ADD1, GRK4
+5 more
Copy number gain
not provided
GUncertain significance
HGFAC, UVSSA
+141 more
Copy number loss
not provided
GPathogenic
FGFBP2, SMIM20
+161 more
Copy number gain
not provided
GPathogenic
RGS12, RNF212
+140 more
Copy number loss
not provided
GPathogenic
TMEM128, TNIP2
+28 more
Deletion
Curry-Hall syndrome
+1 more
GPathogenic
HGFAC, HTT
+48 more
Copy number loss
Generalized hypotonia
+2 more
GPathogenic
ZFYVE28, CRMP1
+65 more
Copy number loss
not provided
GPathogenic
HGFAC, NOP14
+60 more
Copy number loss
not provided
GPathogenic
RGS12, LRPAP1
+21 more
Copy number loss
not provided
GPathogenic
PPP2R2C, RGS12
+32 more
Copy number loss
microdeletion 4p16.3p16.1
GLikely pathogenic
KLF3, KLHL5
+226 more
Copy number gain
See cases
GPathogenic
ADD1, ABLIM2
+146 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+114 more
Copy number loss
not provided
GPathogenic
ADD1, ADRA2C
+76 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+90 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+111 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+161 more
Copy number gain
not provided
GPathogenic
ADD1, ADRA2C
+52 more
Copy number gain
not provided
GPathogenic
DOK7, GRK4
+5 more
Copy number gain
not provided
GUncertain significance
JAKMIP1, KIAA0232
+90 more
Copy number loss
4p partial monosomy syndrome
GPathogenic
SH3BP2, TNIP2
+7 more
Copy number gain
not provided
GUncertain significance
ZFYVE28, SH3BP2
+23 more
Copy number loss
not provided
GPathogenic
GABRA2, GABRA4
+226 more
Copy number gain
not provided
GPathogenic
ABLIM2, ACOX3
+90 more
Copy number gain
See cases
GLikely pathogenic
NELFA, NICOL1
+130 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+52 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+120 more
Copy number loss
See cases
GPathogenic
ADD1, ATP5ME
+51 more
Copy number gain
See cases
GLikely pathogenic
ABLIM2, ACOX3
+114 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+52 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+61 more
Copy number loss
See cases
GPathogenic
HTRA3, HTT
+267 more
Copy number gain
See cases
GPathogenic
AADAT, AASDH
+745 more
Copy number gain
See cases
GPathogenic
MRPL1, MSANTD1
+745 more
Copy number gain
See cases
GPathogenic
H2AZ1, HADH
+744 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+121 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+89 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+226 more
Copy number gain
See cases
GPathogenic
BOD1L1, LDB2
+161 more
Copy number loss
See cases
GPathogenic
KIAA0232, LETM1
+91 more
Copy number loss
See cases
GPathogenic
C4orf50, EVC
+140 more
Copy number loss
See cases
GPathogenic
LOC129992028, LOC129992029
+691 more
Copy number loss
See cases
GPathogenic
LOC129992002, LOC129992003
+597 more
Copy number loss
See cases
GPathogenic
LOC101928279, LOC101928306
+346 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+479 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+279 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+426 more
Copy number loss
See cases
GPathogenic
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