ClinVar for MedGen (Select 334525) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3027427	NM_178335.3(CCDC50):c.1105G>T (p.Asp369Tyr)	CCDC50 (D193Y +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 44	GUncertain significance
Select item 1805828	NM_178335.3(CCDC50):c.372G>C (p.Glu124Asp)	CCDC50 (E124D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 44	GUncertain significance
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 1330217	NM_178335.3(CCDC50):c.1356_1386del (p.Asp452fs)	CCDC50 (D276fs +1 more)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 44	GPathogenic
Select item 1192702	NM_178335.3(CCDC50):c.976+56A>G	CCDC50	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 44 +1 more	GBenign
Select item 1185117	NM_178335.3(CCDC50):c.679C>T (p.Arg227Trp)	CCDC50 (R227W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1178730	NM_178335.3(CCDC50):c.1092+58C>T	CCDC50	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1032557	NM_178335.3(CCDC50):c.199C>G (p.Leu67Val)	CCDC50 (L67V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 44	GUncertain significance
Select item 162857	NM_178335.3(CCDC50):c.883G>T (p.Asp295Tyr)	CCDC50 (D295Y)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 48161	NM_178335.3(CCDC50):c.995T>C (p.Met332Thr)	CCDC50 (M332T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 48160	NM_178335.3(CCDC50):c.976+6A>G	CCDC50	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 48159	NM_178335.3(CCDC50):c.908A>G (p.Lys303Arg)	CCDC50 (K303R)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 48158	NM_178335.3(CCDC50):c.773T>A (p.Ile258Asn)	CCDC50 (I258N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 44 +2 more	GBenign
Select item 48156	NM_178335.3(CCDC50):c.651T>C (p.His217=)	CCDC50	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 48155	NM_178335.3(CCDC50):c.50-4C>G	CCDC50	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 44 +2 more	GBenign
Select item 48151	NM_178335.3(CCDC50):c.1269C>A (p.Ser423=)	CCDC50	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 48150	NM_178335.3(CCDC50):c.1242+10G>A	CCDC50	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1036	NM_178335.3(CCDC50):c.1394_1401dup (p.Phe468fs)	CCDC50 (F292fs +1 more)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 44	GPathogenic