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Items: 1 to 100 of 357

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARD, ABRA
+3658 more
Copy number gain
See cases
GPathogenic
LOC129999937, LOC129999938
+3658 more
Copy number gain
See cases
GPathogenic
PKHD1L1, PKIA
+3656 more
Copy number gain
See cases
GPathogenic
LOC126860501, LOC126860502
+3652 more
Copy number gain
See cases
GPathogenic
MIR7705, MIR7848
+3656 more
Copy number gain
See cases
GPathogenic
LOC130000156, LOC130000157
+3106 more
Copy number gain
See cases
GPathogenic
LINC02894, LINC02906
+1960 more
Copy number gain
See cases
GPathogenic
LOC130001211, LOC130001212
+1690 more
Copy number gain
See cases
GPathogenic
LOC130001139, LOC130001140
+1686 more
Copy number gain
See cases
GPathogenic
LOC126860518, LOC126860519
+1552 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1152 more
Copy number gain
See cases
GPathogenic
LOC130000964, LOC130000965
+1531 more
Copy number gain
See cases
GPathogenic
LOC130000908, LOC130000909
+1406 more
Copy number gain
See cases
GPathogenic
LOC130001371, LOC130001372
+1329 more
Copy number gain
See cases
GPathogenic
ANKRD46, ATP6V1C1
+234 more
Copy number loss
See cases
GPathogenic
LOC130001420, LOC130001421
+1204 more
Copy number gain
See cases
GPathogenic
ABRA, ANGPT1
+188 more
Copy number loss
See cases
GPathogenic
LOC130000950, LOC130000951
+154 more
Copy number loss
See cases
GPathogenic
ABRA, ANGPT1
+154 more
Copy number loss
See cases
GPathogenic
LOC130001415, LOC130001416
+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
(R4*)
Single nucleotide variant
(nonsense)
ZFPM2-related disorder
GLikely pathogenic
ZFPM2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZFPM2
Single nucleotide variant
(intron variant)
46,XY sex reversal 9
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)
ZFPM2-related disorder
+3 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)
46,XY sex reversal 9
+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 disorder
GUncertain significance
ZFPM2
Single nucleotide variant
(synonymous variant +1 more)
ZFPM2-related disorder
+1 more
GBenign/Likely 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
(T41A +1 more)
Single nucleotide variant
(missense variant +1 more)
ZFPM2-related disorder
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)
not provided
+2 more
GBenign/Likely benign
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)
Tetralogy of Fallot
+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)
Inborn genetic diseases
+1 more
GUncertain significance
ZFPM2
(E58D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
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
(Q118H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ZFPM2
Single nucleotide variant
(synonymous variant +1 more)
46,XY sex reversal 9
GLikely benign
ZFPM2
(L120F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ZFPM2
(V122L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+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)
46,XY sex reversal 9
GLikely benign
ZFPM2
Single nucleotide variant
(intron variant)
not provided
GBenign
ZFPM2
Copy number loss
Diaphragmatic hernia 3
GLikely pathogenic
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)
Inborn genetic diseases
+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, ZFPM2-AS1
(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)
ZFPM2-related disorder
+1 more
GLikely benign
ZFPM2, ZFPM2-AS1
(F145S +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 9
GUncertain significance
ZFPM2, ZFPM2-AS1
(L206P +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 9
+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 disorder
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)
46,XY sex reversal 9
+1 more
GConflicting classifications of pathogenicity
ZFPM2, ZFPM2-AS1
(I227M +2 more)
Single nucleotide variant
(missense variant)
Double outlet right ventricle
GPathogenic
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