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Items: 1 to 100 of 341

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130000015, LOC130000016
+3658 more
Copy number gain
See cases
GPathogenic
DEFA1B, DEFA3
+3658 more
Copy number gain
See cases
GPathogenic
LOC110121192, LOC110121196
+3656 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3652 more
Copy number gain
See cases
GPathogenic
LOC130000067, LOC130000068
+3656 more
Copy number gain
See cases
GPathogenic
GPAT4, GPAT4-AS1
+3106 more
Copy number gain
See cases
GPathogenic
LOC130000897, LOC130000898
+1960 more
Copy number gain
See cases
GPathogenic
PARP10, PCAT1
+1690 more
Copy number gain
See cases
GPathogenic
LOC130000867, LOC130000868
+1686 more
Copy number gain
See cases
GPathogenic
LOC130001282, LOC130001283
+1552 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1152 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1531 more
Copy number gain
See cases
GPathogenic
LOC130000908, LOC130000909
+1406 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1329 more
Copy number gain
See cases
GPathogenic
LOC129390031, LOC129390032
+234 more
Copy number loss
See cases
GPathogenic
LOC130001243, LOC130001244
+1204 more
Copy number gain
See cases
GPathogenic
ABRA, ANGPT1
+188 more
Copy number loss
See cases
GPathogenic
ATP6V1C1, AZIN1
+154 more
Copy number loss
See cases
GPathogenic
LOC130000899, LOC130000900
+154 more
Copy number loss
See cases
GPathogenic
LOC130001328, LOC130001329
+1067 more
Copy number gain
See cases
GPathogenic
ABRA, ANGPT1
+30 more
Copy number loss
See cases
GPathogenic
LINC03084, LOC110120608
+7 more
Copy number gain
See cases
GUncertain significance
ZFPM2
Duplication
(5 prime UTR variant)
not provided
GBenign
ZFPM2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZFPM2
Single nucleotide variant
(intron variant)
46,XY sex reversal 9
+2 more
GBenign/Likely benign
LOC110121208, LOC113783881
+8 more
Copy number gain
See cases
GUncertain significance
LOC110121208, LOC113783881
+8 more
Copy number gain
See cases
GLikely benign
ZFPM2
Single nucleotide variant
(intron variant)
46,XY sex reversal 9
GBenign
ZFPM2
Single nucleotide variant
(intron variant)
46,XY sex reversal 9
GBenign
ZFPM2
Single nucleotide variant
(5 prime UTR variant +2 more)
46,XY sex reversal 9
GLikely benign
ZFPM2
Single nucleotide variant
(5 prime UTR variant +2 more)
46,XY sex reversal 9
GLikely benign
ZFPM2
(E25K)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
ZFPM2
(E25G)
Single nucleotide variant
(5 prime UTR variant +2 more)
46,XY sex reversal 9
GUncertain significance
ZFPM2
Single nucleotide variant
(5 prime UTR variant +2 more)
46,XY sex reversal 9
GLikely benign
ZFPM2
(E30G)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+2 more
GBenign/Likely benign
ZFPM2
Single nucleotide variant
(5 prime UTR variant +2 more)
46,XY sex reversal 9
GLikely benign
ZFPM2
(P41A)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ZFPM2
(L42W)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
ZFPM2
(E44K)
Single nucleotide variant
(5 prime UTR variant +2 more)
Diaphragmatic hernia 3
+1 more
GConflicting classifications of pathogenicity
ZFPM2
(C64Y)
Single nucleotide variant
(5 prime UTR variant +2 more)
46,XY sex reversal 9
GBenign
ZFPM2
(C64W)
Single nucleotide variant
(5 prime UTR variant +2 more)
46,XY sex reversal 9
GLikely pathogenic
ZFPM2
Single nucleotide variant
(intron variant)
46,XY sex reversal 9
GBenign
ZFPM2
Single nucleotide variant
(synonymous variant +1 more)
46,XY sex reversal 9
GLikely benign
ZFPM2
(D81N +1 more)
Single nucleotide variant
(missense variant +1 more)
46,XY sex reversal 9
GUncertain significance
ZFPM2
(S31L +1 more)
Single nucleotide variant
(missense variant +1 more)
ZFPM2-related condition
GUncertain significance
ZFPM2
Single nucleotide variant
(synonymous variant +1 more)
46,XY sex reversal 9
GBenign
ZFPM2
Single nucleotide variant
(synonymous variant +1 more)
46,XY sex reversal 9
GLikely benign
ZFPM2
Single nucleotide variant
(synonymous variant +1 more)
46,XY sex reversal 9
GLikely benign
ZFPM2
Single nucleotide variant
(synonymous variant +1 more)
46,XY sex reversal 9
GLikely benign
ZFPM2
(D43Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ZFPM2
(D98N +1 more)
Single nucleotide variant
(missense variant +1 more)
46,XY sex reversal 9
+1 more
GBenign
ZFPM2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZFPM2
Single nucleotide variant
(intron variant)
not provided
GBenign
ZFPM2
Single nucleotide variant
(intron variant)
46,XY sex reversal 9
+3 more
GBenign
ZFPM2
Single nucleotide variant
(intron variant)
46,XY sex reversal 9
GLikely benign
ZFPM2
Single nucleotide variant
(intron variant)
46,XY sex reversal 9
GLikely benign
ZFPM2
(K55E +1 more)
Single nucleotide variant
(missense variant +1 more)
46,XY sex reversal 9
+1 more
GUncertain significance
ZFPM2
(R112* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
ZFPM2
(R117* +1 more)
Single nucleotide variant
(nonsense +1 more)
Diaphragmatic hernia 3
GPathogenic
ZFPM2
Single nucleotide variant
(synonymous variant +1 more)
46,XY sex reversal 9
GLikely benign
ZFPM2
(V122L +1 more)
Single nucleotide variant
(missense variant +1 more)
46,XY sex reversal 9
+1 more
GUncertain significance
ZFPM2
(P128L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ZFPM2
Single nucleotide variant
(synonymous variant +1 more)
46,XY sex reversal 9
GLikely benign
ZFPM2
(S139Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFPM2
Single nucleotide variant
(intron variant)
46,XY sex reversal 9
GLikely benign
ZFPM2
Single nucleotide variant
(intron variant)
not provided
GBenign
ZFPM2
Single nucleotide variant
(intron variant)
46,XY sex reversal 9
GUncertain significance
ZFPM2
Single nucleotide variant
(intron variant)
46,XY sex reversal 9
GBenign
ZFPM2
(K141N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFPM2
(V146L +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 9
+1 more
GConflicting classifications of pathogenicity
ZFPM2
(M95V +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 9
+1 more
GConflicting classifications of pathogenicity
ZFPM2
(M148I +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 9
GUncertain significance
ZFPM2
(K23E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ZFPM2
(D106E +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 9
GUncertain significance
ZFPM2
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 9
GLikely benign
ZFPM2
(I120T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFPM2
Single nucleotide variant
(intron variant)
not provided
GBenign
ZFPM2
Single nucleotide variant
(intron variant)
46,XY sex reversal 9
GBenign
ZFPM2, ZFPM2-AS1
Single nucleotide variant
(intron variant)
46,XY sex reversal 9
GBenign
ZFPM2-AS1, ZFPM2
(A135P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ZFPM2, ZFPM2-AS1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 9
GLikely benign
ZFPM2, ZFPM2-AS1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 9
GLikely benign
ZFPM2, ZFPM2-AS1
(F145S +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 9
GUncertain significance
ZFPM2-AS1, ZFPM2
(L206P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ZFPM2-AS1, ZFPM2
(A156T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFPM2, ZFPM2-AS1
(S210T +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 9
+2 more
GBenign/Likely benign
ZFPM2, ZFPM2-AS1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 9
GLikely benign
ZFPM2, ZFPM2-AS1
(A168V +2 more)
Single nucleotide variant
(missense variant)
ZFPM2-related condition
GUncertain significance
ZFPM2, ZFPM2-AS1
(R169C +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 9
GUncertain significance
ZFPM2, ZFPM2-AS1
(R169H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFPM2, ZFPM2-AS1
(I174V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ZFPM2, ZFPM2-AS1
(I227M +2 more)
Single nucleotide variant
(missense variant)
Double outlet right ventricle
GPathogenic
ZFPM2, ZFPM2-AS1
Single nucleotide variant
(intron variant)
46,XY sex reversal 9
GBenign
ZFPM2, ZFPM2-AS1
Duplication
(non-coding transcript variant +1 more)
not provided
GBenign
ZFPM2, ZFPM2-AS1
Single nucleotide variant
(intron variant)
46,XY sex reversal 9
GLikely benign
ZFPM2, ZFPM2-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZFPM2, ZFPM2-AS1
(C123fs +2 more)
Duplication
(frameshift variant)
Diaphragmatic hernia 3
GPathogenic
ZFPM2, ZFPM2-AS1
(S122A +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 9
GUncertain significance
ZFPM2, ZFPM2-AS1
(S122F +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 9
GUncertain significance
ZFPM2, ZFPM2-AS1
(R260Q +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 9
GPathogenic
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