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Items: 1 to 100 of 131

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057806, LOC130057807
+1763 more
Copy number gain
See cases
GPathogenic
ABHD17C, ABHD2
+1244 more
Copy number gain
See cases
GPathogenic
LOC130057831, LOC130057832
+664 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+630 more
Copy number gain
See cases
GPathogenic
LOC130057938, LOC130057939
+611 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+552 more
Copy number gain
See cases
GPathogenic
LOC121530602, LOC121530603
+517 more
Copy number gain
See cases
GPathogenic
LOC129390732, LOC129390733
+500 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+422 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+228 more
Copy number gain
See cases
GPathogenic
LYSMD4, MCTP2
+224 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+205 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+218 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+202 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+203 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+201 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+195 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+184 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+185 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+184 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS17, ALDH1A3
+179 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+174 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ARRDC4
+111 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS17, ALDH1A3
+171 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+165 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+159 more
Copy number loss
See cases
GPathogenic
LOC130058070, LOC130058071
+148 more
Copy number loss
See cases
GPathogenic
LINC02244, LOC105371017
+35 more
Copy number gain
See cases
GUncertain significance
LINC02244, LOC105371017
+30 more
Copy number gain
See cases
GLikely benign
ADAMTS17, ALDH1A3
+127 more
Copy number loss
See cases
GPathogenic
ADAMTS17, LINC02244
+28 more
Copy number loss
See cases
GLikely benign
ADAMTS17, ALDH1A3
+121 more
Copy number gain
See cases
GPathogenic
MEF2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MEF2A
Microsatellite
(nonsense +1 more)
not provided
GUncertain significance
MEF2A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MEF2A
(P69S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MEF2A
(Q136R +6 more)
Single nucleotide variant
(missense variant +1 more)
Coronary artery disease, autosomal dominant, 1
GUncertain significance
MEF2A
(T75P +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MEF2A
Single nucleotide variant
(intron variant)
MEF2A-related disorder
GBenign
MEF2A
(S208N +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MEF2A
(N148S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MEF2A
(S153N +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MEF2A
(G129D +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MEF2A
(N263S +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
MEF2A
(P279L +4 more)
Single nucleotide variant
(missense variant +1 more)
Coronary artery disease/myocardial infarction
GPathogenic
MEF2A
(G283D +4 more)
Single nucleotide variant
(missense variant +1 more)
Coronary artery disease/myocardial infarction
GPathogenic
MEF2A
Single nucleotide variant
(synonymous variant +1 more)
MEF2A-related disorder
GBenign
MEF2A
Single nucleotide variant
(synonymous variant +1 more)
MEF2A-related disorder
GBenign
MEF2A
(Q186E +12 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MEF2A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MEF2A
(T196I +12 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS17, CERS3
+25 more
Copy number gain
See cases
Gconflicting data from submitters
MEF2A
(S233L +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEF2A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MEF2A
(Q299H +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEF2A
(G297A +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEF2A
(S263N +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEF2A
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
MEF2A
(R403C +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEF2A
Single nucleotide variant
(synonymous variant)
MEF2A-related disorder
GBenign
MEF2A
Microsatellite
(inframe_insertion)
not provided
+1 more
GBenign
MEF2A
Microsatellite
(inframe deletion)
MEF2A-related disorder
GBenign
MEF2A
Microsatellite
(inframe_deletion)
not specified
+1 more
GBenign
MEF2A
(P153Q +13 more)
Single nucleotide variant
(missense variant)
MEF2A-related disorder
GLikely benign
MEF2A
(P356L +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEF2A
(P310Q +13 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MEF2A
(P313S +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEF2A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MEF2A
Deletion
(inframe_deletion)
Coronary artery disease, autosomal dominant, 1
GPathogenic
MEF2A
Single nucleotide variant
(synonymous variant)
MEF2A-related disorder
GBenign
MEF2A
Single nucleotide variant
(synonymous variant)
MEF2A-related disorder
GBenign
MEF2A
(I403V +10 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
MEF2A
(V474A +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEF2A
(R384Q +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS17, ALDH1A3
+23 more
Copy number gain
not specified
GPathogenic
ADAMTS17, ALDH1A3
+16 more
Copy number loss
not specified
GPathogenic
ADAMTS17, ALDH1A3
+19 more
Copy number loss
not specified
GPathogenic
ADAMTS17, ALDH1A3
+19 more
Deletion
not provided
GPathogenic
ABHD17C, ABHD2
+174 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ASB7
+9 more
Copy number loss
See cases
GPathogenic
IDH2, IGF1R
+86 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+139 more
Copy number gain
not provided
GPathogenic
LRRC28, MEF2A
+1 more
Copy number gain
not provided
GUncertain significance
LRRC28, MEF2A
+3 more
Copy number gain
not provided
GUncertain significance
LRRC28, MEF2A
+1 more
Copy number gain
not specified
GUncertain significance
ADAMTS17, ALDH1A3
+19 more
Copy number loss
not specified
GPathogenic
ADAMTS17, ALDH1A3
+21 more
Copy number loss
not specified
GPathogenic
ADAMTS17, ALDH1A3
+21 more
Copy number loss
not specified
GPathogenic
ADAMTS17, ARRDC4
+13 more
Copy number loss
not specified
GPathogenic
ADAMTS17, ALDH1A3
+12 more
Duplication
not provided
GUncertain significance
ADAMTS17, ALDH1A3
+29 more
Copy number loss
not provided
GPathogenic
ADAMTS17, ALDH1A3
+12 more
Deletion
Chromosome 15q26-qter deletion syndrome
GLikely pathogenic
ABHD2, ACAN
+77 more
Copy number loss
See cases
GPathogenic
PGPEP1L, SYNM
+4 more
Copy number gain
not provided
GUncertain significance
ALDH1A3, SYNM
+19 more
Copy number loss
not provided
GPathogenic
LYSMD4, ADAMTS17
+1 more
Copy number gain
not provided
GLikely benign
PGPEP1L, MEF2A
+4 more
Copy number gain
not provided
GUncertain significance
OR4F15, PGPEP1L
+19 more
Copy number loss
not provided
GPathogenic
SYNM, CHSY1
+19 more
Copy number loss
not provided
GPathogenic
ABHD2, ACAN
+76 more
Copy number loss
not provided
GPathogenic
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