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Items: 1 to 100 of 1201

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
LOC130000705, LOC130000706
+327 more
Copy number loss
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
C8orf88, CDH17
+72 more
Copy number loss
See cases
GPathogenic
CCNE2, CDH17
+109 more
Copy number loss
See cases
GPathogenic
CCNE2, CDH17
+109 more
Copy number loss
See cases
GPathogenic
CPQ, DPY19L4
+139 more
Copy number loss
See cases
GPathogenic
CCNE2, CDH17
+98 more
Copy number loss
See cases
GPathogenic
TMEM67
Single nucleotide variant
not provided
GLikely benign
TMEM67
Single nucleotide variant
not provided
GBenign
TMEM67
Deletion
(5 prime UTR variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TMEM67
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
TMEM67
Single nucleotide variant
(5 prime UTR variant)
Meckel syndrome, type 3
+4 more
GBenign
TMEM67
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GLikely benign
TMEM67
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
TMEM67
(M1V)
Single nucleotide variant
(missense variant +3 more)
Meckel-Gruber syndrome
+1 more
GUncertain significance
TMEM67
(M1I)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
TMEM67
(A2V)
Single nucleotide variant
(missense variant +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM67
(T3M)
Single nucleotide variant
(missense variant +2 more)
Meckel syndrome, type 3
+7 more
GUncertain significance
TMEM67
Single nucleotide variant
(synonymous variant +2 more)
Meckel-Gruber syndrome
+1 more
GLikely benign
TMEM67
(G5C)
Single nucleotide variant
(missense variant +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM67
Single nucleotide variant
(synonymous variant +2 more)
Familial aplasia of the vermis
+1 more
GLikely benign
TMEM67
Single nucleotide variant
(non-coding transcript variant +2 more)
Meckel-Gruber syndrome
+1 more
GLikely benign
TMEM67
(V9M)
Single nucleotide variant
(missense variant +2 more)
not provided
+11 more
GConflicting classifications of pathogenicity
TMEM67
(A10T)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
TMEM67
(A10V)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 14
+7 more
GUncertain significance
TMEM67
(M11V)
Single nucleotide variant
(missense variant +2 more)
Meckel syndrome, type 3
+8 more
GUncertain significance
TMEM67
(M11K)
Single nucleotide variant
(missense variant +2 more)
Meckel-Gruber syndrome
+1 more
GUncertain significance
TMEM67
Single nucleotide variant
(synonymous variant +2 more)
Familial aplasia of the vermis
+1 more
GLikely benign
TMEM67
Single nucleotide variant
(synonymous variant +2 more)
Familial aplasia of the vermis
+1 more
GLikely benign
TMEM67
(V13I)
Single nucleotide variant
(missense variant +2 more)
Familial aplasia of the vermis
+2 more
GConflicting classifications of pathogenicity
TMEM67
Single nucleotide variant
(non-coding transcript variant +2 more)
Familial aplasia of the vermis
+1 more
GLikely benign
TMEM67
(W14C)
Single nucleotide variant
(missense variant +2 more)
Meckel-Gruber syndrome
+1 more
GUncertain significance
TMEM67
(S15T)
Single nucleotide variant
(missense variant +2 more)
COACH syndrome 1
+8 more
GConflicting classifications of pathogenicity
TMEM67
Single nucleotide variant
(synonymous variant +2 more)
Familial aplasia of the vermis
+1 more
GLikely benign
TMEM67
(L16F)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+3 more
GUncertain significance
TMEM67
Single nucleotide variant
(synonymous variant +2 more)
Familial aplasia of the vermis
+1 more
GLikely benign
TMEM67
(L17*)
Single nucleotide variant
(nonsense +2 more)
Joubert syndrome and related disorders
+3 more
GPathogenic/Likely pathogenic
TMEM67
(A19S)
Single nucleotide variant
(missense variant +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM67
(A19D)
Single nucleotide variant
(missense variant +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM67
Single nucleotide variant
(synonymous variant +2 more)
Meckel-Gruber syndrome
+1 more
GLikely benign
TMEM67
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TMEM67
(V22M)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
TMEM67
Single nucleotide variant
(synonymous variant +2 more)
Meckel-Gruber syndrome
+1 more
GLikely benign
TMEM67
(T23S)
Single nucleotide variant
(missense variant +2 more)
Meckel-Gruber syndrome
+1 more
GUncertain significance
TMEM67
(T23A)
Single nucleotide variant
(missense variant +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM67
Single nucleotide variant
(synonymous variant +2 more)
Familial aplasia of the vermis
+1 more
GLikely benign
TMEM67
Single nucleotide variant
(synonymous variant +2 more)
Meckel-Gruber syndrome
+1 more
GLikely benign
TMEM67
(A24V)
Single nucleotide variant
(missense variant +2 more)
Meckel-Gruber syndrome
+1 more
GUncertain significance
TMEM67
(F25L)
Single nucleotide variant
(missense variant +2 more)
COACH syndrome 1
+7 more
GUncertain significance
TMEM67
(L26P)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis 11
+2 more
GUncertain significance
TMEM67
Single nucleotide variant
(synonymous variant +2 more)
Familial aplasia of the vermis
+1 more
GLikely benign
TMEM67
(F29L)
Single nucleotide variant
(intron variant +2 more)
RHYNS syndrome
+7 more
GUncertain significance
TMEM67
(L30F)
Single nucleotide variant
(missense variant +2 more)
COACH syndrome 1
+9 more
GUncertain significance
TMEM67
(P31S)
Single nucleotide variant
(missense variant +2 more)
TMEM67-related disorder
GUncertain significance
TMEM67
(P31L)
Single nucleotide variant
(missense variant +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM67
(R32S)
Single nucleotide variant
(missense variant +2 more)
Meckel-Gruber syndrome
+1 more
GUncertain significance
TMEM67
Single nucleotide variant
(synonymous variant +2 more)
Familial aplasia of the vermis
+1 more
GLikely benign
TMEM67
(A36V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial aplasia of the vermis
+2 more
GConflicting classifications of pathogenicity
TMEM67
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial aplasia of the vermis
+1 more
GLikely benign
TMEM67
(F39fs)
Deletion
(5 prime UTR variant +2 more)
Joubert syndrome and related disorders
GLikely pathogenic
TMEM67
Single nucleotide variant
(5 prime UTR variant +2 more)
Meckel-Gruber syndrome
+1 more
GLikely benign
TMEM67
Microsatellite
(non-coding transcript variant +2 more)
Meckel-Gruber syndrome
+2 more
GUncertain significance
TMEM67
Single nucleotide variant
(5 prime UTR variant +2 more)
Meckel-Gruber syndrome
+5 more
GConflicting classifications of pathogenicity
TMEM67
(F41L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM67
(P42A)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM67
(Q44*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial aplasia of the vermis
+1 more
GPathogenic
TMEM67
(P46Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial aplasia of the vermis
+7 more
GUncertain significance
TMEM67
(P46L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Joubert syndrome 6
+4 more
GUncertain significance
TMEM67
(E47K)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
TMEM67
(C49S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM67
(D50Y)
Single nucleotide variant
(5 prime UTR variant +2 more)
Meckel-Gruber syndrome
+1 more
GUncertain significance
TMEM67
(D50H)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM67
(D50N)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM67
(N52del)
Microsatellite
(5 prime UTR variant +2 more)
Meckel-Gruber syndrome
+1 more
GUncertain significance
TMEM67
(D50E)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis 11
+7 more
GUncertain significance
TMEM67
(N51S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Meckel-Gruber syndrome
+1 more
GUncertain significance
TMEM67
(Q53*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Meckel-Gruber syndrome
+1 more
GPathogenic
TMEM67
(Q53R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Meckel-Gruber syndrome
+1 more
GUncertain significance
TMEM67
(Y54fs)
Deletion
(5 prime UTR variant +2 more)
Familial aplasia of the vermis
+1 more
GPathogenic
TMEM67
Single nucleotide variant
(non-coding transcript variant +2 more)
Familial aplasia of the vermis
+1 more
GLikely benign
TMEM67
(Q53H)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM67
(Y54C)
Single nucleotide variant
(5 prime UTR variant +2 more)
Meckel syndrome, type 3
GLikely pathogenic
TMEM67
(D56Y)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
TMEM67
(D56V)
Single nucleotide variant
(missense variant +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM67
(D56G)
Single nucleotide variant
(missense variant +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM67
(I57V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial aplasia of the vermis
+2 more
GUncertain significance
TMEM67
Single nucleotide variant
(5 prime UTR variant +2 more)
TMEM67-related disorder
+2 more
GLikely benign
TMEM67
(A59V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
TMEM67
Single nucleotide variant
(5 prime UTR variant +2 more)
Meckel-Gruber syndrome
+1 more
GLikely benign
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