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Links from Gene

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IGSF1
(D1034H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IGSF1
(M1024T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IGSF1
(T1293I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IGSF1
(I827V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IGSF1
(G1012R +2 more)
Single nucleotide variant
(missense variant)
X-linked central congenital hypothyroidism with late-onset testicular enlargement
GUncertain significance
IGSF1
(N1214K +2 more)
Single nucleotide variant
(missense variant)
X-linked central congenital hypothyroidism with late-onset testicular enlargement
GUncertain significance
IGSF1
Deletion
(splice acceptor variant)
X-linked central congenital hypothyroidism with late-onset testicular enlargement
GLikely pathogenic
IGSF1
(G327D +1 more)
Single nucleotide variant
(missense variant)
X-linked central congenital hypothyroidism with late-onset testicular enlargement
GUncertain significance
IGSF1
Single nucleotide variant
(synonymous variant)
X-linked central congenital hypothyroidism with late-onset testicular enlargement
GUncertain significance
IGSF1
(G336E +1 more)
Single nucleotide variant
(missense variant)
X-linked central congenital hypothyroidism with late-onset testicular enlargement
GUncertain significance
IGSF1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
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