"ClinGen Hearing Loss Variant Curation Expert Panel"[submitter] AND "C - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 228491	NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)	CDH23, CDH23-AS1 (D127G)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 45941	NM_022124.6(CDH23):c.429+4G>A	CDH23-AS1, CDH23	Single nucleotide variant (intron variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 375463	NM_022124.6(CDH23):c.478G>A (p.Asp160Asn)	CDH23 (D160N)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 4928	NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)	CDH23 (P240L)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 4929	NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)	CDH23 (R301Q)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 228484	NM_022124.6(CDH23):c.1515-12G>A	CDH23	Single nucleotide variant (intron variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 45891	NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)	CDH23 (H755Y)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 444219	NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)	CDH23 (E956K)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GPathogenic FDA Recognized database
Select item 4927	NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)	C10orf105, CDH23 (T1209A)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GBenign FDA Recognized database
Select item 178685	NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)	C10orf105, CDH23 (R1334W)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 197422	NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)	CDH23 (V1711I)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 446446	NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)	CDH23 (R2029W)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 46014	NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)	CDH23 (P2205L)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 228500	NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser)	CDH23 (N2289S +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 422345	NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn)	CDH23 (D2695N +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 4926	NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)	CDH23 (R3189W +2 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 162956	NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln)	CDH23 (R3189Q +2 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 46076	NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)	CDH23 (A3190V +2 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database