C1857750[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161160	NM_016356.5(DCDC2):c.1271A>C (p.Gln424Pro)	DCDC2 (Q424P)	Single nucleotide variant (missense variant)	Nonsyndromic Deafness +1 more	GPathogenic
Select item 417768	NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter)	DCDC2 (L297*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 66 +2 more	GPathogenic
Select item 417769	NM_016356.5(DCDC2):c.529dup (p.Ile177fs)	DCDC2 (I177fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 66 +2 more	GPathogenic
Select item 501347	NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter)	DCDC2 (S128*)	Single nucleotide variant (nonsense)	Nephronophthisis 19 +3 more	GPathogenic/Likely pathogenic
Select item 180689	NM_016356.5(DCDC2):c.349-2A>G	DCDC2	Single nucleotide variant (splice acceptor variant)	Nephronophthisis 19 +3 more	GPathogenic
Select item 180688	NM_016356.5(DCDC2):c.123_124del (p.Ser42fs)	DCDC2, KAAG1 (S42fs)	Microsatellite (frameshift variant)	Dyslexia, susceptibility to, 2 +3 more	GPathogenic

ClinVar