64072[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 5441

<< First< Prev

Page of 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	ADAMTS14, ADK +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	ADAMTS14, ADK +580 more	Copy number gain	See cases	GPathogenic
Select item 154673	GRCh38/hg38 10q22.1(chr10:71169571-71556196)x1	CDH23, CDH23-AS1 +13 more	Copy number loss	See cases	GUncertain significance
Select item 155353	GRCh38/hg38 10q22.1(chr10:71211967-71614160)x1	CDH23, CDH23-AS1 +12 more	Copy number loss	See cases	GUncertain significance
Select item 300386	NM_022124.6(CDH23):c.-353C>G	CDH23	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GUncertain significance
Select item 300387	NM_022124.6(CDH23):c.-346G>T	CDH23	Single nucleotide variant (5 prime UTR variant)	CDH23-Related Disorders +2 more	GUncertain significance
Select item 300388	NM_022124.6(CDH23):c.-276G>A	CDH23	Single nucleotide variant (5 prime UTR variant)	CDH23-Related Disorders +2 more	GUncertain significance
Select item 300389	NM_022124.6(CDH23):c.-258G>A	CDH23	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 300390	NM_022124.6(CDH23):c.-197GAGCGGC[5]	CDH23	Microsatellite (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 300391	NM_022124.6(CDH23):c.-197GAGCGGC[3]	CDH23	Microsatellite (5 prime UTR variant)	Retinitis pigmentosa-deafness syndrome +2 more	GUncertain significance
Select item 300392	NM_022124.6(CDH23):c.-185G>C	CDH23	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GUncertain significance
Select item 300393	NM_022124.6(CDH23):c.-168C>T	CDH23	Single nucleotide variant (5 prime UTR variant)	CDH23-Related Disorders +2 more	GUncertain significance
Select item 1678493	NM_022124.6(CDH23):c.-137G>A	CDH23	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 878901	NM_022124.6(CDH23):c.-55G>A	CDH23	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GUncertain significance
Select item 300394	NM_022124.6(CDH23):c.-45AGGCG[4]	CDH23	Microsatellite (5 prime UTR variant)	Nonsyndromic Hearing Loss, Recessive +4 more	GBenign/Likely benign
Select item 300395	NM_022124.6(CDH23):c.-45AGGCG[2]	CDH23	Microsatellite (5 prime UTR variant)	Nonsyndromic Hearing Loss, Recessive +3 more	GBenign/Likely benign
Select item 300396	NM_022124.6(CDH23):c.-38G>C	CDH23	Single nucleotide variant (5 prime UTR variant)	CDH23-Related Disorders +2 more	GUncertain significance
Select item 1246349	NM_022124.6(CDH23):c.-35_-34insAGGCG	CDH23	Insertion (5 prime UTR variant)	not provided	GBenign
Select item 300397	NM_022124.6(CDH23):c.-15C>A	CDH23	Single nucleotide variant (5 prime UTR variant)	CDH23-Related Disorders +3 more	GConflicting classifications of pathogenicity
Select item 880124	NM_022124.6(CDH23):c.-6+13A>C	CDH23	Single nucleotide variant (intron variant)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 680498	NM_022124.6(CDH23):c.-5-251A>G	CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244165	NM_022124.6(CDH23):c.-5-126T>G	CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670320	NM_022124.6(CDH23):c.-5-83C>A	CDH23	Single nucleotide variant (intron variant)	Usher syndrome type 1D +2 more	GBenign
Select item 162864	NM_022124.6(CDH23):c.-1C>T	CDH23	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GBenign
Select item 1938116	NM_022124.6(CDH23):c.1A>T (p.Met1Leu)	CDH23 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2503061	NM_022124.6(CDH23):c.8_9del (p.Arg3fs)	CDH23 (R3fs)	Microsatellite (frameshift variant)	Usher syndrome	GPathogenic
Select item 46042	NM_022124.6(CDH23):c.7C>T (p.Arg3Cys)	CDH23 (R3C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2118318	NM_022124.6(CDH23):c.8del (p.Arg3fs)	CDH23 (R3fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1036299	NM_022124.6(CDH23):c.8G>T (p.Arg3Leu)	CDH23 (R3L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 46063	NM_022124.6(CDH23):c.8G>A (p.Arg3His)	CDH23 (R3H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1662833	NM_022124.6(CDH23):c.9C>T (p.Arg3=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2025302	NM_022124.6(CDH23):c.21C>T (p.Thr7=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907491	NM_022124.6(CDH23):c.26G>T (p.Cys9Phe)	CDH23 (C9F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590650	NM_022124.6(CDH23):c.27C>T (p.Cys9=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 877333	NM_022124.6(CDH23):c.28C>T (p.His10Tyr)	CDH23 (H10Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GUncertain significance
Select item 755544	NM_022124.6(CDH23):c.30C>T (p.His10=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862280	NM_022124.6(CDH23):c.33G>A (p.Val11=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744603	NM_022124.6(CDH23):c.36C>T (p.Ala12=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133547	NM_022124.6(CDH23):c.36C>G (p.Ala12=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 968011	NM_022124.6(CDH23):c.39G>T (p.Trp13Cys)	CDH23 (W13C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1041484	NM_022124.6(CDH23):c.41T>C (p.Leu14Pro)	CDH23 (L14P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 990897	NM_022124.6(CDH23):c.42T>C (p.Leu14=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629363	NM_022124.6(CDH23):c.43T>C (p.Leu15=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 45954	NM_022124.6(CDH23):c.46del (p.Val16fs)	CDH23 (V16fs)	Deletion (frameshift variant)	Rare genetic deafness	GPathogenic
Select item 1119725	NM_022124.6(CDH23):c.51G>C (p.Leu17=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1651772	NM_022124.6(CDH23):c.54C>T (p.Ile18=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1071750	NM_022124.6(CDH23):c.65G>A (p.Trp22Ter)	CDH23 (W22*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2680533	NM_022124.6(CDH23):c.66G>A (p.Trp22Ter)	CDH23 (W22*)	Single nucleotide variant (nonsense)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680509	NM_022124.6(CDH23):c.67+1G>A	CDH23	Single nucleotide variant (splice donor variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 227234	NM_022124.6(CDH23):c.67+8C>T	CDH23	Single nucleotide variant (intron variant)	Usher syndrome type 1D +3 more	GConflicting classifications of pathogenicity
Select item 2764172	NM_022124.6(CDH23):c.67+9A>G	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2098456	NM_022124.6(CDH23):c.67+10G>T	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610290	NM_022124.6(CDH23):c.67+12_67+20del	CDH23	Deletion (intron variant)	not provided	GLikely benign
Select item 46017	NM_022124.6(CDH23):c.67+12C>T	CDH23	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1556383	NM_022124.6(CDH23):c.67+17C>T	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021536	NM_022124.6(CDH23):c.67+18C>T	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948385	NM_022124.6(CDH23):c.67+19G>T	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169317	NM_022124.6(CDH23):c.67+19G>A	CDH23	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1198209	NM_022124.6(CDH23):c.67+172G>A	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202687	NM_022124.6(CDH23):c.67+205A>G	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179476	NM_022124.6(CDH23):c.68-168C>T	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291807	NM_022124.6(CDH23):c.68-44T>C	CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1590304	NM_022124.6(CDH23):c.68-19C>T	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840100	NM_022124.6(CDH23):c.68-16G>T	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 763397	NM_022124.6(CDH23):c.68-3C>T	CDH23	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1590360	NM_022124.6(CDH23):c.69C>A (p.Gly23=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990898	NM_022124.6(CDH23):c.79C>T (p.Arg27Trp)	CDH23 (R27W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805397	NM_022124.6(CDH23):c.81G>A (p.Arg27=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2041242	NM_022124.6(CDH23):c.87C>T (p.Pro29=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088014	NM_022124.6(CDH23):c.96C>T (p.Thr32=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1313357	NM_022124.6(CDH23):c.101A>G (p.His34Arg)	CDH23 (H34R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1142677	NM_022124.6(CDH23):c.102C>T (p.His34=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2031041	NM_022124.6(CDH23):c.114A>G (p.Thr38=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1714348	NM_022124.6(CDH23):c.115T>G (p.Tyr39Asp)	CDH23 (Y39D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999302	NM_022124.6(CDH23):c.117C>T (p.Tyr39=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046841	NM_022124.6(CDH23):c.118C>T (p.Leu40=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009652	NM_022124.6(CDH23):c.123G>A (p.Leu41=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2201908	NM_022124.6(CDH23):c.129C>T (p.Ser43=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 667207	NM_022124.6(CDH23):c.130G>A (p.Glu44Lys)	CDH23 (E44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1414155	NM_022124.6(CDH23):c.136_137del (p.Thr46fs)	CDH23 (T46fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 618008	NM_022124.6(CDH23):c.137C>T (p.Thr46Met)	CDH23 (T46M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 179083	NM_022124.6(CDH23):c.137C>A (p.Thr46Lys)	CDH23 (T46K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2971467	NM_022124.6(CDH23):c.138G>C (p.Thr46=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732278	NM_022124.6(CDH23):c.138G>A (p.Thr46=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 964846	NM_022124.6(CDH23):c.145+1G>T	CDH23	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2778279	NM_022124.6(CDH23):c.145+11dup	CDH23	Duplication (intron variant)	not provided	GBenign
Select item 958527	NM_022124.6(CDH23):c.145+6T>G	CDH23	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1160913	NM_022124.6(CDH23):c.145+7G>A	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873011	NM_022124.6(CDH23):c.145+9G>T	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1132255	NM_022124.6(CDH23):c.145+9G>A	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1088621	NM_022124.6(CDH23):c.145+10G>A	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006214	NM_022124.6(CDH23):c.145+11G>A	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2739495	NM_022124.6(CDH23):c.145+13A>G	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984636	NM_022124.6(CDH23):c.145+17G>A	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2148569	NM_022124.6(CDH23):c.145+19T>C	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 55