U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTDP1
Single nucleotide variant
(intron variant)
not provided
GPathogenic
HSBP1L1, KCNG2
+5 more
Copy number loss
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
GPathogenic
ZNF236, ZNF516
+15 more
Deletion
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
GPathogenic
CTDP1, HSBP1L1
+8 more
Deletion
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
GPathogenic
KCNG2, NFATC1
+8 more
Deletion
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
GPathogenic
Format
Sort by
Choose Destination