U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IGFALS
(M1K)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GLikely pathogenic
IGFALS
Single nucleotide variant
(intron variant)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
(S125L +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
(A403V +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
(D593N +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
(D90N +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
(P378L +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
(L491V +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
+1 more
GUncertain significance
IGFALS
(A147T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
(A551T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
IGFALS
(C566Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
IGFALS
(D631E +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
(D634G +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(3 prime UTR variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(3 prime UTR variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(3 prime UTR variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(3 prime UTR variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(3 prime UTR variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
(Q320* +1 more)
Single nucleotide variant
(nonsense +1 more)
Short stature due to primary acid-labile subunit deficiency
GBenign
IGFALS
(G544R +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
+1 more
GConflicting classifications of pathogenicity
IGFALS
(P325L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
IGFALS
(R507H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
IGFALS
(G479D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IGFALS
Single nucleotide variant
(5 prime UTR variant)
Short stature due to primary acid-labile subunit deficiency
GLikely benign
IGFALS
Single nucleotide variant
(5 prime UTR variant)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(5 prime UTR variant)
Short stature due to primary acid-labile subunit deficiency
GBenign
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
IGFALS
(P22L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IGFALS
(G31R +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
IGFALS-related disorder
+2 more
GBenign/Likely benign
IGFALS
(A36D +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
IGFALS-related disorder
+2 more
GBenign
IGFALS
(Q77K +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
(L97F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
IGFALS
(E114K +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
(L124P +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
(E198V +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GBenign
IGFALS
(A202V +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
(A212T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
IGFALS
(G216S +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
IGFALS
(N276S +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GLikely pathogenic
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
Short stature due to primary acid-labile subunit deficiency
+1 more
GConflicting classifications of pathogenicity
IGFALS
(G291D +1 more)
Single nucleotide variant
(missense variant +1 more)
IGFALS-related disorder
+1 more
GUncertain significance
IGFALS
(R306Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
(P307L +1 more)
Single nucleotide variant
(missense variant +1 more)
IGFALS-related disorder
+1 more
GLikely benign
IGFALS
(T344M +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
(G399R +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
+2 more
GConflicting classifications of pathogenicity
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
IGFALS-related disorder
+2 more
GConflicting classifications of pathogenicity
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
IGFALS
(E472Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
IGFALS-related disorder
+2 more
GBenign/Likely benign
IGFALS
(V489A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
IGFALS
(R493H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
IGFALS
Single nucleotide variant
(synonymous variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GBenign
IGFALS
(R548W +1 more)
Single nucleotide variant
(missense variant +1 more)
IGFALS-related disorder
+1 more
GBenign
IGFALS
(I565T +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
(D570N +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
+1 more
GUncertain significance
IGFALS
(A575V +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
(E599K +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(3 prime UTR variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(3 prime UTR variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GUncertain significance
IGFALS
Single nucleotide variant
(3 prime UTR variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GLikely benign
IGFALS
Single nucleotide variant
(3 prime UTR variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GLikely benign
IGFALS
Duplication
(inframe_insertion +1 more)
Short stature due to primary acid-labile subunit deficiency
GPathogenic
IGFALS
(C540R +1 more)
Single nucleotide variant
(missense variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GPathogenic
IGFALS
(E73fs +1 more)
Deletion
(frameshift variant +1 more)
Short stature due to primary acid-labile subunit deficiency
GPathogenic
Format
Items per page
Sort by
Choose Destination