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Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
LOC129993982, LOC129993983
+265 more
Copy number loss
Intellectual disability
GLikely pathogenic
ADAMTS6, AK6
+139 more
Copy number gain
See cases
GLikely pathogenic
AK6, CCDC125
+101 more
Copy number gain
See cases
GUncertain significance
GTF2H2, GTF2H2C
+12 more
Deletion
Primary amenorrhea
GBenign
GTF2H2, GTF2H2C
+11 more
Duplication
Primary amenorrhea
GBenign
GTF2H2, GTF2H2C
+10 more
Copy number loss
See cases
GBenign
GTF2H2, GTF2H2C
+9 more
Copy number loss
See cases
GLikely benign
GTF2H2, LOC111089946
+8 more
Copy number loss
See cases
GBenign
GTF2H2, LOC111089946
+8 more
Copy number gain
See cases
GBenign
GTF2H2, LOC111089946
+8 more
Copy number loss
See cases
GBenign
GTF2H2, LOC111089946
+8 more
Copy number loss
See cases
GBenign
GTF2H2, LOC111089946
+8 more
Copy number gain
See cases
GBenign
GTF2H2, LOC111089946
+8 more
Copy number gain
See cases
GBenign
GTF2H2, LOC111089946
+8 more
Copy number loss
See cases
GBenign
GTF2H2, LOC111089946
+8 more
Copy number gain
See cases
GBenign
GTF2H2, LOC111089946
+8 more
Copy number gain
See cases
GBenign
GTF2H2, LOC111089946
+8 more
Copy number loss
See cases
GBenign
GTF2H2, LOC111089946
+8 more
Copy number loss
See cases
GBenign/Likely benign
GTF2H2, LOC111089946
+7 more
Copy number gain
See cases
GBenign
GTF2H2, LOC111089946
+7 more
Copy number loss
See cases
GBenign
GTF2H2, LOC111089946
+7 more
Copy number gain
See cases
GBenign
GTF2H2, LOC111089946
+7 more
Copy number loss
See cases
GBenign
GTF2H2, LOC111089946
+7 more
Copy number gain
See cases
GBenign
GTF2H2, LOC111089946
+5 more
Copy number gain
See cases
GBenign
GTF2H2, LOC111089946
+5 more
Copy number gain
See cases
GBenign
GTF2H2, LOC111089946
+5 more
Copy number gain
See cases
GBenign
GTF2H2, LOC111089946
+5 more
Copy number gain
See cases
GBenign
GTF2H2, LOC111089946
+5 more
Copy number loss
See cases
GBenign
GTF2H2, LOC111089946
+5 more
Copy number gain
See cases
GBenign
GTF2H2, LINC02197
+6 more
Copy number loss
See cases
GBenign
GTF2H2, LOC111089946
+5 more
Copy number loss
See cases
GBenign
GTF2H2, LOC111089946
+5 more
Deletion
Primary amenorrhea
GBenign
GTF2H2, LOC111089946
+4 more
Deletion
Primary amenorrhea
GBenign
GTF2H2, LOC111089946
+5 more
Copy number gain
See cases
GBenign
GTF2H2, LOC111089946
+5 more
Copy number loss
See cases
GBenign
GTF2H2, LOC111089946
+5 more
Copy number loss
See cases
GBenign
GTF2H2, LOC111089946
+3 more
Copy number loss
See cases
GBenign/Likely benign
GTF2H2, LINC02197
+3 more
Deletion
Primary amenorrhea
GBenign
GTF2H2
(P252L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H2
(A210V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H2
(D209Y +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H2
(V179L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H2
(K212Q +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GTF2H2
(R149H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H2
(S180T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H2
(A134V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H2
(N130T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H2
(L128F +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H2
(V118M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H2
(T73K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H2
(F47L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ADAMTS6, CDK7
+40 more
Copy number loss
See cases
GPathogenic
GTF2H2, GTF2H2C
+6 more
Copy number loss
not provided
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
CCDC125, CCNB1
+15 more
Copy number gain
not provided
GUncertain significance
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
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