ClinVar for PubMed (Select 35020051) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2682434	NM_022124.6(CDH23):c.334G>C (p.Gly112Arg)	CDH23, CDH23-AS1 (G112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2680478	NM_022124.6(CDH23):c.9471_9474del (p.Ser3157fs)	CDH23 (S3157fs +2 more)	Microsatellite (frameshift variant)	Pituitary adenoma 5, multiple types +1 more	GPathogenic/Likely pathogenic
Select item 2573609	NM_022124.6(CDH23):c.9128G>C (p.Arg3043Pro)	CDH23 (R3043P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2162349	NM_022124.6(CDH23):c.1535C>T (p.Thr512Met)	CDH23 (T512M)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +1 more	GUncertain significance
Select item 1687042	NM_022124.6(CDH23):c.805C>T (p.Arg269Trp)	CDH23 (R269W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1685258	NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys)	CDH23 (E1862K)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +2 more	GLikely pathogenic
Select item 1496408	NM_022124.6(CDH23):c.9398T>C (p.Leu3133Pro)	CDH23 (L3133P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484563	NM_022124.6(CDH23):c.4747G>A (p.Gly1583Ser)	CDH23 (G1583S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1303895	NM_022124.6(CDH23):c.3220G>A (p.Asp1074Asn)	CDH23 (D1074N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1067155	NM_022124.6(CDH23):c.8064+1G>A	CDH23, LOC111982869	Single nucleotide variant (splice donor variant)	Usher syndrome +1 more	GPathogenic/Likely pathogenic
Select item 877825	NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)	CDH23 (R1588W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GConflicting classifications of pathogenicity
Select item 517297	NM_022124.6(CDH23):c.8064+1G>T	CDH23, LOC111982869	Single nucleotide variant (splice donor variant)	Rare genetic deafness +1 more	GPathogenic
Select item 226438	NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp)	CDH23 (R3043W +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GUncertain significance
Select item 178313	NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn)	CDH23 (D3032N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 46066	NM_022124.6(CDH23):c.901C>T (p.Arg301Trp)	CDH23 (R301W)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 46029	NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)	CDH23	Single nucleotide variant (synonymous variant)	Rare genetic deafness +4 more	GConflicting classifications of pathogenicity
Select item 4923	NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)	C10orf105, CDH23 (D1341N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 4920	NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)	CDH23 (D2202N)	Single nucleotide variant (missense variant)	Usher syndrome +2 more	GPathogenic/Likely pathogenic