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Links from Gene

Items: 1 to 100 of 113

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSMO1
(N42I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MSMO1
(D275N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSMO1
(H153P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSMO1
(A13V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MSMO1
(E5D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FAT1, FAT4
+197 more
Copy number gain
not specified
GPathogenic
AADAT, ACSL1
+85 more
Copy number loss
not specified
GPathogenic
AADAT, ABCE1
+286 more
Copy number gain
not specified
GPathogenic
HPGDS, SCRG1
+537 more
Copy number gain
not provided
GPathogenic
MSMO1
(F65L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MSMO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSMO1
(T143I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSMO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPOCK3, SPRY1
+153 more
Copy number gain
not provided
GPathogenic
MSMO1
(Q48H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MSMO1
(W95S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MSMO1
(A178T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSMO1
(S11R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MSMO1
(I201T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSMO1
(A60G)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
MSMO1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
MSMO1
(N105S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MSMO1
(W52C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MSMO1
(H105Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
MSMO1
(D150V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSMO1
(E5Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MSMO1
(G196A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSMO1
(I56M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MSMO1
(Y118H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
MSMO1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
MSMO1
(R89H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSMO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANP32C, CPE
+14 more
Copy number loss
not provided
GUncertain significance
CYP4V2, HAND2
+93 more
Copy number loss
See cases
GPathogenic
MSMO1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSMO1
Duplication
(intron variant)
not provided
GBenign
AADAT, ACSL1
+86 more
Copy number gain
not specified
GPathogenic
MSMO1
(F137L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MSMO1
(G273E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSMO1
(I72T +1 more)
Indel
(missense variant)
not provided
GUncertain significance
MSMO1
(I148T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSMO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSMO1
Insertion
(intron variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MSMO1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
ETFDH, FAM218A
+108 more
Copy number gain
not provided
GPathogenic
AADAT, ANP32C
+39 more
Copy number loss
Autism with high cognitive abilities
GPathogenic
SCRG1, SH3RF1
+79 more
Copy number loss
not provided
GPathogenic
MSMO1
(N124S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
MSMO1
(K99R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign/Likely benign
MSMO1
(V73M +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MSMO1
(P126A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
MSMO1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
AADAT, ABCE1
+163 more
Copy number gain
not provided
GPathogenic
AADAT, ACSL1
+131 more
Copy number gain
not provided
GPathogenic
CPE, DDX60
+36 more
Copy number gain
not provided
GPathogenic
AADAT, ACSL1
+92 more
Copy number gain
not provided
GPathogenic
AADAT, ADAM29
+60 more
Copy number gain
not provided
GPathogenic
CBR4, CLCN3
+23 more
Deletion
not provided
GLikely pathogenic
MSMO1
(P179L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AADAT, ACSL1
+102 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+314 more
Copy number gain
See cases
GPathogenic
CFAP97, CFI
+255 more
Copy number gain
See cases
GPathogenic
AADAT, ADAM29
+46 more
Copy number loss
See cases
GPathogenic
AADAT, AASDH
+745 more
Copy number gain
See cases
GPathogenic
MRPL1, MSANTD1
+745 more
Copy number gain
See cases
GPathogenic
AADAT, ACSL1
+118 more
Copy number gain
See cases
GPathogenic
H2AZ1, HADH
+744 more
Copy number gain
See cases
GPathogenic
AADAT, ADAM29
+40 more
Copy number loss
See cases
GPathogenic
SCOC, SCRG1
+218 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+142 more
Copy number gain
See cases
GPathogenic
MSMO1
(G115R +1 more)
Single nucleotide variant
(missense variant)
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
GPathogenic
MSMO1
(Y244C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
MSMO1
(H173Q +1 more)
Single nucleotide variant
(missense variant)
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
GPathogenic
LOC132090717, LOC132090718
+1051 more
Copy number gain
See cases
GPathogenic
ANP32C, APELA
+65 more
Copy number gain
See cases
GUncertain significance
APELA, CPE
+49 more
Copy number loss
See cases
GUncertain significance
AADAT, ANP32C
+243 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+553 more
Copy number gain
See cases
GPathogenic
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