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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STAT1
(Y303D +6 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
GLikely pathogenic
SCNN1B
(L501F +1 more)
Single nucleotide variant
(missense variant)
Opsoclonus-myoclonus syndrome
GLikely pathogenic
CYFIP1, LOC112272575
+9 more
Duplication
15q11q13 microduplication syndrome
GPathogenic
LOC130060903, NAGLU
Indel
(inframe_indel)
Mucopolysaccharidosis, MPS-III-B
GUncertain significance
TYR
Single nucleotide variant
(splice acceptor variant)
Tyrosinase-negative oculocutaneous albinism
+3 more
GPathogenic
TYR
(K131del)
Deletion
(inframe_deletion)
Oculocutaneous albinism type 1B
+2 more
GConflicting classifications of pathogenicity
TYR
(A486fs)
Deletion
(frameshift variant)
Tyrosinase-negative oculocutaneous albinism
GPathogenic
BRCA1
(E962G +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+4 more
GConflicting classifications of pathogenicity
SLC45A2
(W202C)
Single nucleotide variant
(missense variant +1 more)
Oculocutaneous albinism type 4
+2 more
GPathogenic/Likely pathogenic
SDHA
(R512* +1 more)
Single nucleotide variant
(nonsense)
Mitochondrial complex II deficiency, nuclear type 1
+6 more
GPathogenic/Likely pathogenic
SLC45A2
(G89fs)
Deletion
(frameshift variant)
Oculocutaneous albinism type 4
+2 more
GPathogenic/Likely pathogenic
TYR
Single nucleotide variant
(intron variant)
See cases
+10 more
GPathogenic/Likely pathogenic
ABCA4
(A1794D +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
F8
(N1460fs)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GPathogenic/Likely pathogenic
TYR
(G47D)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+6 more
GPathogenic/Likely pathogenic
TYR
(P406L)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+8 more
GPathogenic/Likely pathogenic
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