C1832845[trait identifier] AND "Joint Genome Diagnostic Labs from Nijm - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1284435	NM_001384140.1(PCDH15):c.4978dup (p.Ser1660fs)	PCDH15 (S1595fs +4 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23 +2 more	GUncertain significance
Select item 4933	NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)	PCDH15 (R245* +3 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1 +5 more	GPathogenic
Select item 45928	NM_022124.6(CDH23):c.366T>C (p.Val122=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 45940	NM_022124.6(CDH23):c.429+13G>A	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 44114	NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr)	CDH23 (A366T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +4 more	GConflicting classifications of pathogenicity
Select item 45866	NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)	CDH23 (S436N)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GConflicting classifications of pathogenicity
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 194671	NM_022124.6(CDH23):c.1595C>T (p.Thr532Met)	CDH23 (T532M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 45890	NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)	CDH23 (R747C)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +5 more	GConflicting classifications of pathogenicity
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 45893	NM_022124.6(CDH23):c.2316T>C (p.Asn772=)	CDH23	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 45896	NM_022124.6(CDH23):c.2388T>C (p.Asp796=)	CDH23	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 45898	NM_022124.6(CDH23):c.2572G>A (p.Val858Ile)	CDH23 (V858I)	Single nucleotide variant (missense variant)	CDH23-related condition +4 more	GConflicting classifications of pathogenicity
Select item 560433	NM_022124.6(CDH23):c.3428dup (p.His1143fs)	C10orf105, CDH23 (H1143fs)	Duplication (frameshift variant +1 more)	Usher syndrome type 1D	GPathogenic
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 45930	NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)	C10orf105, CDH23	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 1D +3 more	GConflicting classifications of pathogenicity
Select item 45931	NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)	C10orf105, CDH23 (N1282S)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 45937	NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp)	C10orf105, CDH23 (N1351D)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 45944	NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln)	CDH23 (R1437Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 179731	NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)	CDH23 (I1469V)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +3 more	GConflicting classifications of pathogenicity
Select item 45955	NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr)	CDH23 (A1575T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 300435	NM_022124.6(CDH23):c.4780C>T (p.Arg1594Cys)	CDH23 (R1594C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 45957	NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)	CDH23 (V1620M)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GBenign/Likely benign
Select item 859233	NM_022124.6(CDH23):c.5117G>A (p.Arg1706His)	CDH23 (R1706H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GUncertain significance
Select item 45997	NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser)	CDH23 (T1999S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 46000	NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)	CDH23 (G2017S)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GConflicting classifications of pathogenicity
Select item 46001	NM_022124.6(CDH23):c.6050-9G>A	CDH23	Single nucleotide variant (intron variant)	Rare genetic deafness +4 more	GPathogenic
Select item 46002	NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys)	CDH23 (E2044K)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GBenign
Select item 560434	NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter)	CDH23 (E2096*)	Duplication (nonsense)	Usher syndrome type 1D	GPathogenic
Select item 46020	NM_022124.6(CDH23):c.6852G>C (p.Leu2284=)	CDH23	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 46032	NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)	CDH23 (E2490K +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GConflicting classifications of pathogenicity
Select item 46040	NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)	CDH23 (R2608H +1 more)	Single nucleotide variant (missense variant)	CDH23-Related Disorders +7 more	GConflicting classifications of pathogenicity
Select item 177767	NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser)	CDH23 (G2771S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 46078	NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)	CDH23 (R3224W +2 more)	Single nucleotide variant (missense variant +1 more)	CDH23-Related Disorders +4 more	GConflicting classifications of pathogenicity

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Items: 34