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Items: 1 to 100 of 2705

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNB1
(D118G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GNB1
(D118Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GNB1
(L95P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hypotonia
+2 more
GPathogenic/Likely pathogenic
GNB1
(I80N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
+2 more
GPathogenic
GNB1
(I80T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
+7 more
GPathogenic/Likely pathogenic
GNB1
(K78R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
+3 more
GPathogenic/Likely pathogenic
PEX10
(L272fs +4 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder, complementation group 7
+4 more
GPathogenic
NMNAT1
(E257K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
TARDBP
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
TARDBP
Single nucleotide variant
(missense variant)
Motor neuron disease
+3 more
GPathogenic/Likely pathogenic
TARDBP
(G294V)
Single nucleotide variant
(missense variant)
TARDBP-related frontotemporal dementia
+2 more
GPathogenic
TARDBP
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+2 more
GPathogenic
TARDBP
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+2 more
GPathogenic
TARDBP
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+2 more
GPathogenic/Likely pathogenic
TARDBP
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TARDBP
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
TARDBP
Single nucleotide variant
(missense variant)
TARDBP-related frontotemporal dementia
+2 more
GConflicting classifications of pathogenicity
PLOD1
(R319* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PLOD1
(Y511* +1 more)
Single nucleotide variant
(nonsense)
PLOD1-related condition
+4 more
GPathogenic
CTRC
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
CTRC
Deletion
(inframe_deletion)
not specified
+2 more
GPathogenic
CTRC
(R254W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity; association
PINK1, PINK1-AS
(G411S)
Single nucleotide variant
(non-coding transcript variant +1 more)
PINK1-related condition
+2 more
GConflicting classifications of pathogenicity
PINK1, PINK1-AS
(Q456*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic
ALPL
(R152H +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+6 more
GBenign/Likely benign
ALPL
(E191K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+8 more
GPathogenic/Likely pathogenic
ALPL
(Y263H +2 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign
ALPL
(F327L +2 more)
Single nucleotide variant
(missense variant)
ALPL-related condition
+5 more
GPathogenic/Likely pathogenic
ALPL
(G334D +2 more)
Single nucleotide variant
(missense variant)
ALPL-related condition
+6 more
GPathogenic/Likely pathogenic
ALPL
(D378V +2 more)
Single nucleotide variant
(missense variant)
ALPL-related condition
+5 more
GPathogenic
ALPL
(L443fs +2 more)
Deletion
(frameshift variant)
Hypophosphatasia
+3 more
GPathogenic
ALPL
(V522A +2 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign
GALE
(G319E)
Single nucleotide variant
(missense variant)
GALE-related condition
+2 more
GConflicting classifications of pathogenicity; other
GALE
(K257R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity; other
GALE
(R169W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GALE
(V94M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
GALE
(R51W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SELENON
(G315S +1 more)
Single nucleotide variant
(missense variant)
SEPN1-Related Disorders
+4 more
GPathogenic/Likely pathogenic
AHDC1
(C791fs)
Microsatellite
(frameshift variant)
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
+4 more
GPathogenic
PPT1
(R151* +1 more)
Single nucleotide variant
(nonsense)
Neuronal Ceroid-Lipofuscinosis, Recessive
+5 more
GPathogenic/Likely pathogenic
PPT1
(R122W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic
KCNQ4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNQ4
(W276S)
Single nucleotide variant
(missense variant)
Rare genetic deafness
GPathogenic
KCNQ4
(G285C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KCNQ4
(G285S)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
SLC2A1
(R468W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC2A1
(R333W)
Single nucleotide variant
(missense variant)
GLUT1 deficiency syndrome
+8 more
GPathogenic/Likely pathogenic
SLC2A1
(T295M)
Single nucleotide variant
(missense variant)
GLUT1 deficiency syndrome
+3 more
GPathogenic
SLC2A1
(R126H)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
+3 more
GPathogenic/Likely pathogenic
SLC2A1
(R126C)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+3 more
GPathogenic/Likely pathogenic
EIF2B3
(A87V)
Single nucleotide variant
(missense variant)
EIF2B3-related condition
+2 more
GConflicting classifications of pathogenicity
UROD
(R193P)
Single nucleotide variant
(missense variant +1 more)
UROD-Related Disorders
+1 more
GLikely pathogenic
UROD
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
UROD
(G281E)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
MUTYH
(E480del +7 more)
Microsatellite
(inframe_deletion +1 more)
Familial adenomatous polyposis 2
+3 more
GPathogenic
MUTYH
(E466* +8 more)
Single nucleotide variant
(nonsense +1 more)
Familial adenomatous polyposis 2
+4 more
GPathogenic
MUTYH
(E383fs +7 more)
Duplication
(frameshift variant +1 more)
MUTYH-related condition
+3 more
GPathogenic/Likely pathogenic
MUTYH
(P391L +7 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
+4 more
GPathogenic
MUTYH
(G382D +8 more)
Single nucleotide variant
(missense variant +1 more)
MUTYH-related condition
+8 more
GPathogenic/Likely pathogenic
MUTYH
(A357fs +7 more)
Deletion
(frameshift variant +1 more)
MUTYH-related condition
+4 more
GPathogenic/Likely pathogenic
MUTYH
(A359V +7 more)
Single nucleotide variant
(missense variant +1 more)
MUTYH-related condition
+4 more
GBenign/Likely benign
MUTYH
(G258E +6 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
MUTYH
(Y165C +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
+4 more
GPathogenic/Likely pathogenic
MUTYH
(Y90* +5 more)
Single nucleotide variant
(nonsense +2 more)
Familial adenomatous polyposis 2
+4 more
GPathogenic/Likely pathogenic
MMACHC
(R91fs +1 more)
Duplication
(frameshift variant)
MMACHC-related condition
+5 more
GPathogenic
MMACHC
(R111* +1 more)
Single nucleotide variant
(nonsense)
Cobalamin C disease
+1 more
GPathogenic
MMACHC
(R132* +1 more)
Single nucleotide variant
(nonsense)
cblC type of combined methylmalonic aciduria and homocystinuria
+3 more
GPathogenic
MMACHC
(G147A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
MMACHC
(R161Q +1 more)
Single nucleotide variant
(missense variant)
MMACHC-related condition
+3 more
GPathogenic
LOC129930446, MMACHC
(W203* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
STIL
(A1146V +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
STIL
(A86V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
CPT2, LOC129930561
(P50H)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+13 more
GPathogenic
CPT2
(S113L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+7 more
GPathogenic/Likely pathogenic
CPT2
(Y120C)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+5 more
GPathogenic/Likely pathogenic
CPT2
(R151Q)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+5 more
GPathogenic/Likely pathogenic
CPT2
Indel
(inframe_indel)
CPT2-related condition
+3 more
GConflicting classifications of pathogenicity
CPT2
(P227L)
Single nucleotide variant
(missense variant)
CPT2-related condition
+6 more
GPathogenic/Likely pathogenic
CPT2
(F352C)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+7 more
GBenign/Likely benign
CPT2
(V368I)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GBenign
CPT2
(K414fs)
Deletion
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+5 more
GPathogenic
CPT2
(F448L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+5 more
GConflicting classifications of pathogenicity; other
CPT2
(R503C)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+5 more
GPathogenic/Likely pathogenic
CPT2
(G549D +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GConflicting classifications of pathogenicity
CPT2
(R631C +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
CPT2
(M647V +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
PCSK9
(R151H +3 more)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+3 more
GConflicting classifications of pathogenicity
PCSK9
(R496W +6 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
AGL
(Q6*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
AGL
(Q6fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
AGL
(R408* +3 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease IIIa
+2 more
GPathogenic
AGL
(W680* +4 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
AGL
(R864* +4 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
AGL
(R1228* +6 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
AGL
(V1306fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
AGL
Single nucleotide variant
(intron variant)
AGL-related condition
+2 more
GPathogenic/Likely pathogenic
AGL
(S1470fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
NRAS
(G60E)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GPathogenic
NRAS
(I24N)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CASQ2
(R33*)
Single nucleotide variant
(nonsense)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GPathogenic/Likely pathogenic
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