TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1064792983
rs1064792983 		0.925 0.200 8 93803676 splice donor variant ATGAGTAATGTAA/GG delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs1064792983
rs1064792983 		0.925 0.200 8 93803676 splice donor variant ATGAGTAATGTAA/GG delins
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs111619594
rs111619594 		8 93780962 missense variant A/T snv 3.9E-04 8.7E-04
CUI: C4017203
Disease: BARDET-BIEDL SYNDROME 14, MODIFIER OF
BARDET-BIEDL SYNDROME 14, MODIFIER OF 		0.700 0
dbSNP: rs137853108
rs137853108 		0.851 0.320 8 93765617 stop gained A/T snv 1.8E-04 2.6E-04
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554555063
rs1554555063 		0.882 0.160 8 93791324 splice region variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1554555063
rs1554555063 		0.882 0.160 8 93791324 splice region variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1554555063
rs1554555063 		0.882 0.160 8 93791324 splice region variant G/A snv
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554555063
rs1554555063 		0.882 0.160 8 93791324 splice region variant G/A snv
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1554555063
rs1554555063 		0.882 0.160 8 93791324 splice region variant G/A snv
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		Nervous System Diseases 0.700 0
dbSNP: rs1554555063
rs1554555063 		0.882 0.160 8 93791324 splice region variant G/A snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1554555063
rs1554555063 		0.882 0.160 8 93791324 splice region variant G/A snv
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 0
dbSNP: rs1554556213
rs1554556213 		0.925 0.200 8 93795895 splice region variant TTAT/ATAA mnv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs1554556213
rs1554556213 		0.925 0.200 8 93795895 splice region variant TTAT/ATAA mnv
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1554557920
rs1554557920 		1.000 0.160 8 93803677 splice donor variant TGAGTAATGTAA/G delins
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554558365
rs1554558365 		0.925 0.120 8 93804851 inframe insertion -/TATGAA delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1554558365
rs1554558365 		0.925 0.120 8 93804851 inframe insertion -/TATGAA delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554558365
rs1554558365 		0.925 0.120 8 93804851 inframe insertion -/TATGAA delins
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554558365
rs1554558365 		0.925 0.120 8 93804851 inframe insertion -/TATGAA delins
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 0
dbSNP: rs1554615516
rs1554615516 		1.000 0.200 8 93763874 stop gained C/T snv
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199821258
rs199821258 		0.925 0.320 8 93765648 splice donor variant T/G snv 5.6E-05 2.8E-05
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199821258
rs199821258 		0.925 0.320 8 93765648 splice donor variant T/G snv 5.6E-05 2.8E-05
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs201893408
rs201893408 		0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0040822
Disease: Tremor
Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs201893408
rs201893408 		0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 0
dbSNP: rs201893408
rs201893408 		0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs201893408
rs201893408 		0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0