"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CCDC50"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1376607	NM_178335.3(CCDC50):c.227G>A (p.Arg76His)	CCDC50 (R76H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 44 +1 more	GUncertain significance
Select item 228479	NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe)	CCDC50 (S206F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2654354	NM_178335.3(CCDC50):c.698C>T (p.Pro233Leu)	CCDC50 (P233L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3067443	NM_178335.3(CCDC50):c.973G>A (p.Ala325Thr)	CCDC50 (A325T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 425317	NM_178335.3(CCDC50):c.1106A>T (p.Asp369Val)	CCDC50 (D369V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 162861	NM_178335.3(CCDC50):c.1203A>G (p.Lys401=)	CCDC50	Single nucleotide variant (synonymous variant)	CCDC50-related condition +2 more	GBenign/Likely benign
Select item 162862	NM_178335.3(CCDC50):c.1429+5G>A	CCDC50	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity

ClinVar