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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CKMT1A, CKMT1B
+4 more
Deletion
Deafness-infertility syndrome
+1 more
GPathogenic/Likely pathogenic
STRC
Single nucleotide variant
(synonymous variant)
Deafness-infertility syndrome
+3 more
GBenign/Likely benign
CATSPER2, LOC130056949
Deletion
Rare genetic deafness
+1 more
GPathogenic
CKMT1B, STRC
+1 more
Deletion
Deafness-infertility syndrome
GPathogenic
STRC
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 16
+5 more
GPathogenic/Likely pathogenic
STRC
(R1451*)
Single nucleotide variant
(nonsense)
Deafness-infertility syndrome
+1 more
GPathogenic/Likely pathogenic
STRC
(C1092Y)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
STRC
(R1224*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
Deletion
Deafness-infertility syndrome
GPathogenic
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