U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ESPN
(K476Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 36
+1 more
GUncertain significance
ESPN
(K818del +2 more)
Microsatellite
(inframe_deletion)
Autosomal recessive nonsyndromic hearing loss 36
GLikely pathogenic
ANKRD65, ARHGEF16
+97 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
Format
Sort by
Choose Destination