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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HCCS
(A174S)
Single nucleotide variant
(missense variant)
Linear skin defects with multiple congenital anomalies 1
GUncertain significance
HCCS
(A112T)
Single nucleotide variant
(missense variant)
Linear skin defects with multiple congenital anomalies 1
Gnot provided
HCCS
Single nucleotide variant
(intron variant)
Linear skin defects with multiple congenital anomalies 1
GUncertain significance
HCCS
Single nucleotide variant
(intron variant)
Linear skin defects with multiple congenital anomalies 1
GUncertain significance
HCCS
(R246C)
Single nucleotide variant
(missense variant)
Linear skin defects with multiple congenital anomalies 1
GUncertain significance
HCCS
Insertion
(inframe_insertion)
Linear skin defects with multiple congenital anomalies 1
GLikely pathogenic
NDUFB11
(R130H +1 more)
Single nucleotide variant
(missense variant)
Linear skin defects with multiple congenital anomalies 1
GUncertain significance
HCCS
(P67T)
Single nucleotide variant
(missense variant)
Linear skin defects with multiple congenital anomalies 1
GUncertain significance
NDUFB11
(R88*)
Single nucleotide variant
(nonsense)
Linear skin defects with multiple congenital anomalies 1
+3 more
GPathogenic
HCCS
(E159K)
Single nucleotide variant
(missense variant)
Linear skin defects with multiple congenital anomalies 1
Gnot provided
HCCS
(R217C)
Single nucleotide variant
(missense variant)
HCCS-related condition
GLikely pathogenic
HCCS
(R197*)
Single nucleotide variant
(nonsense)
Linear skin defects with multiple congenital anomalies 1
GPathogenic
HCCS, HCCS-DT
+1 more
Deletion
Linear skin defects with multiple congenital anomalies 1
GPathogenic
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