C1832845[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1073476	NM_001384140.1(PCDH15):c.3717+1G>T	PCDH15	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 46464	NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)	PCDH15 (R1106* +6 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 224747	NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)	PCDH15 (R991* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1F +2 more	GPathogenic
Select item 4932	NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)	PCDH15 (L368fs +3 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 4933	NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)	PCDH15 (R245* +3 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +5 more	GPathogenic
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 618006	NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)	CDH23 (A328T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 729528	NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)	CDH23 (D428N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 423771	NM_022124.6(CDH23):c.1428dup (p.Thr477fs)	CDH23 (T477fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 693998	NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter)	CDH23 (R736*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 504507	NM_022124.6(CDH23):c.2289+1G>A	CDH23	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 618010	NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)	CDH23 (E1006K)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +5 more	GPathogenic/Likely pathogenic
Select item 166811	NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)	CDH23 (V1008M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +5 more	GConflicting classifications of pathogenicity
Select item 45918	NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)	CDH23, C10orf105 (E1133K)	Single nucleotide variant (missense variant +1 more)	Pituitary adenoma 5, multiple types +4 more	GConflicting classifications of pathogenicity
Select item 585306	NM_022124.6(CDH23):c.4210-2A>G	CDH23	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1D +3 more	GPathogenic/Likely pathogenic
Select item 45943	NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)	CDH23 (R1437*)	Single nucleotide variant (nonsense)	Rare genetic deafness +4 more	GPathogenic
Select item 179731	NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)	CDH23 (I1469V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 4915	NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)	CDH23 (Q1496H)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +1 more	GPathogenic
Select item 877825	NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)	CDH23 (R1588W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 300441	NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn)	CDH23 (T1743N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 4916	NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)	CDH23 (R1746Q)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +9 more	GPathogenic
Select item 812254	NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)	CDH23 (R1771*)	Single nucleotide variant (nonsense)	Pituitary adenoma 5, multiple types +3 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 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 178309	NM_022124.6(CDH23):c.6050-15G>A	CDH23	Single nucleotide variant (intron variant)	Pituitary adenoma 5, multiple types +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 4922	NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)	CDH23 (D2148N)	Single nucleotide variant (missense variant)	Rare genetic deafness +6 more	GConflicting classifications of pathogenicity
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 498100	NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln)	CDH23 (R2382Q +1 more)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +4 more	GConflicting classifications of pathogenicity
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 4918	NM_022124.6(CDH23):c.7362+5G>A	CDH23	Single nucleotide variant (intron variant)	Rare genetic deafness +3 more	GPathogenic
Select item 504515	NM_022124.6(CDH23):c.7466G>A (p.Arg2489His)	CDH23 (R2489H +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
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 1071895	NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter)	CDH23 (W2811* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 198370	NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)	CDH23 (R3175H +2 more)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +5 more	GConflicting classifications of pathogenicity
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
Select item 228512	NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys)	CDH23 (E3302K +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +4 more	GUncertain significance
Select item 971364	NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys)	CDH23 (E1049K +4 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +3 more	GUncertain significance

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Items: 40