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Links from MedGen

Items: 1 to 100 of 134

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM67
(A535D +1 more)
Single nucleotide variant
(missense variant +1 more)
COACH syndrome 1
GLikely pathogenic
TMEM67
(F160fs +1 more)
Deletion
(frameshift variant +1 more)
Nephronophthisis 11
+5 more
GPathogenic/Likely pathogenic
TMEM67
Single nucleotide variant
(intron variant)
COACH syndrome 1
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 14
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+8 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 14
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
Meckel-Gruber syndrome
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
Meckel-Gruber syndrome
+7 more
GLikely benign
TMEM67
Duplication
(intron variant)
COACH syndrome 1
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
Meckel-Gruber syndrome
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
Joubert syndrome 6
+7 more
GLikely benign
TMEM67
(C736Y +1 more)
Single nucleotide variant
(missense variant +1 more)
COACH syndrome 1
+7 more
GUncertain significance
TMEM67
(M914V +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 11
+7 more
GUncertain significance
TMEM67
(V228G +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+7 more
GUncertain significance
TMEM67
(D50E)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis 11
+7 more
GUncertain significance
TMEM67
(I95V)
Single nucleotide variant
(missense variant +2 more)
Meckel syndrome, type 3
+7 more
GUncertain significance
TMEM67
(A160G +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+7 more
GUncertain significance
TMEM67
(R894C +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+7 more
GUncertain significance
TMEM67
Single nucleotide variant
(intron variant)
Meckel-Gruber syndrome
+7 more
GConflicting classifications of pathogenicity
TMEM67
(N797K +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+8 more
GUncertain significance
TMEM67
(E109G)
Single nucleotide variant
(5 prime UTR variant +2 more)
Meckel-Gruber syndrome
+7 more
GUncertain significance
TMEM67
(L698V +1 more)
Single nucleotide variant
(missense variant +1 more)
RHYNS syndrome
+7 more
GUncertain significance
TMEM67
(Y133C +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+7 more
GUncertain significance
TMEM67
(S985F +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
+8 more
GUncertain significance
TMEM67
(P640R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+7 more
GUncertain significance
TMEM67
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+7 more
GConflicting classifications of pathogenicity
TMEM67
(L30F)
Single nucleotide variant
(missense variant +2 more)
not provided
+9 more
GUncertain significance
TMEM67
(I694V +1 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 14
+9 more
GUncertain significance
TMEM67
(F25L)
Single nucleotide variant
(missense variant +2 more)
COACH syndrome 1
+7 more
GUncertain significance
TMEM67
(K250Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+7 more
GUncertain significance
TMEM67
(T3M)
Single nucleotide variant
(missense variant +2 more)
Meckel syndrome, type 3
+7 more
GUncertain significance
TMEM67
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 14
+7 more
GUncertain significance
TMEM67
(Q231R +1 more)
Single nucleotide variant
(missense variant +1 more)
COACH syndrome 1
+7 more
GUncertain significance
TMEM67
(R527H +1 more)
Single nucleotide variant
(missense variant +1 more)
RHYNS syndrome
+8 more
GUncertain significance
TMEM67
(P392R +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
+7 more
GUncertain significance
TMEM67
(R643Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
+7 more
GUncertain significance
CC2D2A
(E177K +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+4 more
GUncertain significance
TMEM67
(R711G +1 more)
Single nucleotide variant
(missense variant +1 more)
COACH syndrome 1
+5 more
GConflicting classifications of pathogenicity
TMEM67
Single nucleotide variant
(synonymous variant +1 more)
Meckel syndrome, type 3
+7 more
GLikely benign
TMEM67
(R578* +1 more)
Single nucleotide variant
(nonsense +1 more)
Meckel syndrome, type 3
+9 more
GPathogenic/Likely pathogenic
TMEM67
(M11V)
Single nucleotide variant
(missense variant +2 more)
Meckel syndrome, type 3
+8 more
GUncertain significance
TMEM67
(P46Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
Joubert syndrome 6
+7 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+2 more
GConflicting classifications of pathogenicity
CC2D2A
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+2 more
GConflicting classifications of pathogenicity
CC2D2A
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+2 more
GConflicting classifications of pathogenicity
TMEM67
(A227P +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+7 more
GUncertain significance
RPGRIP1L
(H502L)
Single nucleotide variant
(missense variant)
COACH syndrome 1
GUncertain significance
RPGRIP1L
(A500E)
Single nucleotide variant
(missense variant)
COACH syndrome 1
GUncertain significance
CC2D2A
(P1054T +1 more)
Single nucleotide variant
(missense variant)
COACH syndrome 1
GUncertain significance
TMEM67
(A732V +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+7 more
GUncertain significance
TMEM67
(D418Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 14
+8 more
GUncertain significance
CC2D2A
(R1022fs +1 more)
Deletion
(frameshift variant)
COACH syndrome 1
+2 more
GLikely pathogenic
TMEM67
(S15T)
Single nucleotide variant
(missense variant +2 more)
RHYNS syndrome
+8 more
GConflicting classifications of pathogenicity
TMEM67
(V449I +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
+7 more
GUncertain significance
TMEM67
(F29L)
Single nucleotide variant
(intron variant +2 more)
RHYNS syndrome
+7 more
GUncertain significance
TMEM67
(A627T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
RHYNS syndrome
+7 more
GUncertain significance
RPGRIP1L
(P1141fs +3 more)
Microsatellite
(frameshift variant)
COACH syndrome 1
+3 more
GPathogenic/Likely pathogenic
RPGRIP1L
(Q1005R +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+3 more
GUncertain significance
TMEM67
Single nucleotide variant
(5 prime UTR variant +2 more)
COACH syndrome 1
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 14
+7 more
GBenign/Likely benign
TMEM67
Single nucleotide variant
(intron variant)
not provided
+8 more
GBenign/Likely benign
TMEM67
(I665T +1 more)
Single nucleotide variant
(missense variant +1 more)
COACH syndrome 1
+7 more
GUncertain significance
TMEM67
(R379T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+9 more
GUncertain significance
CC2D2A
(E775K +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+4 more
GUncertain significance
CC2D2A
(I1041fs +1 more)
Deletion
(frameshift variant)
Joubert syndrome 9
+2 more
GLikely pathogenic
CC2D2A
(E1495* +1 more)
Single nucleotide variant
(nonsense)
COACH syndrome 1
GPathogenic
TMEM67
(R172* +1 more)
Single nucleotide variant
(nonsense +1 more)
RHYNS syndrome
+11 more
GPathogenic/Likely pathogenic
TMEM67
(E723* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
COACH syndrome 1
+6 more
GPathogenic
CC2D2A
(T649M +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TMEM67
(T589I +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 11
+8 more
GUncertain significance
TMEM67
(R213H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+8 more
GConflicting classifications of pathogenicity
RPGRIP1L
(T256I)
Single nucleotide variant
(missense variant)
RPGRIP1L-related condition
+3 more
GUncertain significance
TMEM67
(G137A +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel syndrome, type 3
+9 more
GUncertain significance
TMEM67
(Q147* +1 more)
Single nucleotide variant
(nonsense +1 more)
COACH syndrome 1
GPathogenic
CC2D2A
(S875L +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 9
+5 more
GUncertain significance
RPGRIP1L
(L554I)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
CC2D2A
(V1290A +1 more)
Single nucleotide variant
(missense variant)
COACH syndrome 1
+5 more
GConflicting classifications of pathogenicity
TMEM67
(G75E)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+8 more
GUncertain significance
CC2D2A
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TMEM67
Single nucleotide variant
(intron variant)
COACH syndrome 1
+8 more
GLikely benign
TMEM67
(V767I +1 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 14
+8 more
GUncertain significance
TMEM67
(A10V)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 14
+7 more
GUncertain significance
RPGRIP1L
(R84Q)
Single nucleotide variant
(missense variant)
Joubert syndrome 7
+7 more
GConflicting classifications of pathogenicity
RPGRIP1L
(E604K)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+7 more
GConflicting classifications of pathogenicity
CC2D2A
(R982H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
CC2D2A
(I1193V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
CC2D2A
(R828Q +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+3 more
GConflicting classifications of pathogenicity
TMEM67
(S288* +1 more)
Single nucleotide variant
(nonsense +1 more)
RHYNS syndrome
+8 more
GPathogenic/Likely pathogenic
TMEM67
Single nucleotide variant
(intron variant)
not specified
+9 more
GBenign/Likely benign
TMEM67
Single nucleotide variant
(intron variant)
not specified
+9 more
GBenign/Likely benign
TMEM67
Duplication
(intron variant)
not specified
+7 more
GLikely benign
CC2D2A
(R1618C +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+5 more
GUncertain significance
CC2D2A
(G776R +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 6
+6 more
GConflicting classifications of pathogenicity
RPGRIP1L
(R1156C +3 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+9 more
GUncertain significance
TMEM67
(E371fs +1 more)
Deletion
(frameshift variant +1 more)
Joubert syndrome 6
+2 more
GLikely pathogenic
TMEM67
(T291K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GPathogenic/Likely pathogenic
TMEM67
(R360C +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+23 more
GPathogenic/Likely pathogenic
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