"Ambry Genetics"[submitter] AND "CDH23"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 170

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2271947	NM_022124.6(CDH23):c.113C>T (p.Thr38Ile)	CDH23 (T38I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622490	NM_022124.6(CDH23):c.139C>T (p.Pro47Ser)	CDH23 (P47S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329766	NM_022124.6(CDH23):c.211G>T (p.Gly71Trp)	CDH23, CDH23-AS1 (G71W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1400139	NM_022124.6(CDH23):c.311A>G (p.Glu104Gly)	CDH23, CDH23-AS1 (E104G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 178293	NM_022124.6(CDH23):c.385G>A (p.Ala129Thr)	CDH23-AS1, CDH23 (A129T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 45951	NM_022124.6(CDH23):c.460G>A (p.Val154Met)	CDH23 (V154M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2501543	NM_022124.6(CDH23):c.474C>A (p.Asp158Glu)	CDH23 (D158E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 517628	NM_022124.6(CDH23):c.499G>A (p.Val167Ile)	CDH23 (V167I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1036065	NM_022124.6(CDH23):c.523T>C (p.Ser175Pro)	CDH23 (S175P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 964168	NM_022124.6(CDH23):c.550C>T (p.Arg184Cys)	CDH23 (R184C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2615843	NM_022124.6(CDH23):c.763G>A (p.Val255Met)	CDH23 (V255M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2147081	NM_022124.6(CDH23):c.766C>A (p.Arg256Ser)	CDH23 (R256S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 420355	NM_022124.6(CDH23):c.772A>G (p.Ile258Val)	CDH23 (I258V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 879005	NM_022124.6(CDH23):c.806G>A (p.Arg269Gln)	CDH23 (R269Q)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +3 more	GUncertain significance
Select item 970989	NM_022124.6(CDH23):c.838A>G (p.Thr280Ala)	CDH23 (T280A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2270510	NM_022124.6(CDH23):c.862T>C (p.Tyr288His)	CDH23 (Y288H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 841413	NM_022124.6(CDH23):c.997A>T (p.Thr333Ser)	CDH23 (T333S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1433944	NM_022124.6(CDH23):c.1004A>G (p.Asn335Ser)	CDH23 (N335S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2473780	NM_022124.6(CDH23):c.1154T>C (p.Met385Thr)	CDH23 (M385T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266131	NM_022124.6(CDH23):c.1179C>A (p.Asn393Lys)	CDH23 (N393K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1424052	NM_022124.6(CDH23):c.1429A>G (p.Thr477Ala)	CDH23 (T477A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2262431	NM_022124.6(CDH23):c.1458C>G (p.Asp486Glu)	CDH23 (D486E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 45876	NM_022124.6(CDH23):c.1520C>T (p.Ser507Leu)	CDH23 (S507L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 505043	NM_022124.6(CDH23):c.1581G>T (p.Gln527His)	CDH23 (Q527H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 45879	NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln)	CDH23 (R546Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1015439	NM_022124.6(CDH23):c.1652T>G (p.Val551Gly)	CDH23 (V551G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 228485	NM_022124.6(CDH23):c.1672G>A (p.Val558Met)	CDH23 (V558M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 2537084	NM_022124.6(CDH23):c.1691A>G (p.Asp564Gly)	CDH23 (D564G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2158842	NM_022124.6(CDH23):c.1720G>A (p.Glu574Lys)	CDH23 (E574K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 194888	NM_022124.6(CDH23):c.1963G>A (p.Val655Ile)	CDH23 (V655I)	Single nucleotide variant (missense variant)	CDH23-Related Disorders +5 more	GUncertain significance
Select item 96024	NM_022124.6(CDH23):c.1981G>A (p.Val661Met)	CDH23 (V661M)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +4 more	GUncertain significance
Select item 967826	NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala)	CDH23 (S708A)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 993969	NM_022124.6(CDH23):c.2128A>G (p.Ile710Val)	CDH23 (I710V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2258540	NM_022124.6(CDH23):c.2267A>C (p.Asn756Thr)	CDH23 (N756T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515189	NM_022124.6(CDH23):c.2389G>A (p.Val797Met)	CDH23 (V797M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1052103	NM_022124.6(CDH23):c.2462A>G (p.Asn821Ser)	CDH23 (N821S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2400180	NM_022124.6(CDH23):c.2467T>C (p.Phe823Leu)	CDH23 (F823L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1436329	NM_022124.6(CDH23):c.2512G>A (p.Ala838Thr)	CDH23 (A838T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 998441	NM_022124.6(CDH23):c.2536G>A (p.Asp846Asn)	CDH23 (D846N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1355194	NM_022124.6(CDH23):c.2581A>G (p.Thr861Ala)	CDH23 (T861A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2325696	NM_022124.6(CDH23):c.2612C>G (p.Thr871Ser)	CDH23 (T871S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 227221	NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu)	CDH23 (P904L)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1490908	NM_022124.6(CDH23):c.2842G>T (p.Val948Phe)	CDH23 (V948F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1492607	NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys)	CDH23 (R955C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 300418	NM_022124.6(CDH23):c.2869C>T (p.Arg957Cys)	CDH23 (R957C)	Single nucleotide variant (missense variant)	CDH23-Related Disorders +4 more	GUncertain significance
Select item 964661	NM_022124.6(CDH23):c.2875G>A (p.Ala959Thr)	CDH23 (A959T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 300419	NM_022124.6(CDH23):c.2915C>T (p.Thr972Met)	CDH23 (T972M)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 504554	NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly)	CDH23 (S976G)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 985688	NM_022124.6(CDH23):c.2966A>G (p.Asn989Ser)	CDH23 (N989S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1941480	NM_022124.6(CDH23):c.3053A>G (p.Asn1018Ser)	CDH23 (N1018S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 45909	NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr)	CDH23 (S1031T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1696383	NM_022124.6(CDH23):c.3142C>T (p.Arg1048Cys)	CDH23 (R1048C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 196040	NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val)	CDH23 (L1058V)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +4 more	GUncertain significance
Select item 521399	NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter)	C10orf105, CDH23 (R1081*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic
Select item 166812	NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val)	CDH23, C10orf105 (I1101V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 45914	NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)	C10orf105, CDH23 (V1111I)	Single nucleotide variant (3 prime UTR variant +1 more)	CDH23-Related Disorders +5 more	GConflicting classifications of pathogenicity
Select item 2226696	NM_001164375.3(C10orf105):c.170C>T (p.Thr57Met)	C10orf105, CDH23 (T57M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2467636	NM_022124.6(CDH23):c.3419G>A (p.Arg1140His)	CDH23, C10orf105 (R1140H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542587	NM_022124.6(CDH23):c.3597G>T (p.Glu1199Asp)	C10orf105, CDH23 (E1199D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2175457	NM_022124.6(CDH23):c.3633G>T (p.Gln1211His)	C10orf105, CDH23 (Q1211H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 989827	NM_022124.6(CDH23):c.3695A>G (p.Gln1232Arg)	C10orf105, CDH23 (Q1232R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2610546	NM_022124.6(CDH23):c.3796A>G (p.Ile1266Val)	C10orf105, CDH23 (I1266V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 837733	NM_022124.6(CDH23):c.3883G>A (p.Gly1295Ser)	C10orf105, CDH23 (G1295S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 595710	NM_022124.6(CDH23):c.3916G>C (p.Glu1306Gln)	C10orf105, CDH23 (E1306Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2538657	NM_022124.6(CDH23):c.3950C>T (p.Ser1317Leu)	C10orf105, CDH23 (S1317L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266784	NM_022124.6(CDH23):c.3979G>T (p.Ala1327Ser)	C10orf105, CDH23 (A1327S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1361813	NM_022124.6(CDH23):c.3983T>C (p.Leu1328Pro)	C10orf105, CDH23 (L1328P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2192003	NM_022124.6(CDH23):c.4018A>G (p.Ile1340Val)	CDH23, C10orf105 (I1340V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2312594	NM_022124.6(CDH23):c.4109T>C (p.Val1370Ala)	C10orf105, CDH23 (V1370A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 998526	NM_022124.6(CDH23):c.4250G>A (p.Arg1417Gln)	CDH23 (R1417Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2150275	NM_022124.6(CDH23):c.4279A>G (p.Ser1427Gly)	CDH23 (S1427G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1195972	NM_022124.6(CDH23):c.4286C>G (p.Pro1429Arg)	CDH23 (P1429R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 999963	NM_022124.6(CDH23):c.4391C>A (p.Ala1464Glu)	CDH23 (A1464E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2052901	NM_022124.6(CDH23):c.4408G>A (p.Val1470Ile)	CDH23 (V1470I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2173255	NM_022124.6(CDH23):c.4445C>T (p.Ala1482Val)	CDH23 (A1482V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 934509	NM_022124.6(CDH23):c.4747G>T (p.Gly1583Cys)	CDH23 (G1583C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GUncertain significance
Select item 854878	NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs)	CDH23 (T1587fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types +2 more	GPathogenic
Select item 1302121	NM_022124.6(CDH23):c.4787G>A (p.Arg1596His)	CDH23 (R1596H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1902126	NM_022124.6(CDH23):c.4797C>G (p.Phe1599Leu)	CDH23 (F1599L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1307606	NM_022124.6(CDH23):c.4825G>A (p.Glu1609Lys)	CDH23 (E1609K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2402642	NM_022124.6(CDH23):c.4832C>T (p.Thr1611Ile)	CDH23 (T1611I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 838454	NM_022124.6(CDH23):c.4864G>A (p.Val1622Met)	CDH23 (V1622M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +4 more	GUncertain significance
Select item 857837	NM_022124.6(CDH23):c.5002G>A (p.Gly1668Ser)	CDH23 (G1668S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 45962	NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys)	CDH23 (R1684C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 990278	NM_022124.6(CDH23):c.5056G>A (p.Asp1686Asn)	CDH23 (D1686N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2070529	NM_022124.6(CDH23):c.5078C>G (p.Thr1693Ser)	CDH23 (T1693S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 593859	NM_022124.6(CDH23):c.5146C>A (p.Gln1716Lys)	CDH23 (Q1716K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2379628	NM_022124.6(CDH23):c.5147A>T (p.Gln1716Leu)	CDH23 (Q1716L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260982	NM_022124.6(CDH23):c.5149T>A (p.Cys1717Ser)	CDH23 (C1717S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2317480	NM_022124.6(CDH23):c.5264C>T (p.Thr1755Ile)	CDH23 (T1755I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507793	NM_022124.6(CDH23):c.5276C>T (p.Pro1759Leu)	CDH23 (P1759L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1014931	NM_022124.6(CDH23):c.5335G>C (p.Val1779Leu)	CDH23 (V1779L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1403804	NM_022124.6(CDH23):c.5432G>A (p.Arg1811Gln)	CDH23 (R1811Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2327574	NM_022124.6(CDH23):c.5452A>G (p.Asn1818Asp)	CDH23 (N1818D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 45987	NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile)	CDH23 (T1887I)	Single nucleotide variant (missense variant)	CDH23-related condition +4 more	GBenign/Likely benign
Select item 879909	NM_022124.6(CDH23):c.5689C>T (p.Arg1897Trp)	CDH23 (R1897W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance

<< First< Prev

Page of 2