9944[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 3030347	NC_000011.10:g.110199605C>G	RDX	Single nucleotide variant (3 prime UTR variant)	RDX-related disorder	GLikely benign
Select item 302300	NM_002906.4(RDX):c.*2423C>T	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878146	NM_002906.4(RDX):c.*2253C>T	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878147	NM_002906.4(RDX):c.*2112A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878148	NM_002906.4(RDX):c.*2085A>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878149	NM_002906.4(RDX):c.*2070A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302301	NM_002906.4(RDX):c.*2057T>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302302	NM_002906.4(RDX):c.*2006A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 302303	NM_002906.4(RDX):c.*1961G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302304	NM_002906.4(RDX):c.*1955A>G	RDX	Single nucleotide variant (intron variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879607	NM_002906.4(RDX):c.*1898A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879608	NM_002906.4(RDX):c.*1632A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302305	NM_002906.4(RDX):c.*1579A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879609	NM_002906.4(RDX):c.*1536T>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879610	NM_002906.4(RDX):c.*1383G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879611	NM_002906.4(RDX):c.*1375G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GLikely benign
Select item 302306	NM_002906.4(RDX):c.*1368A>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879612	NM_002906.4(RDX):c.*1358C>T	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302307	NM_002906.4(RDX):c.*1305GA[7]	RDX	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 302308	NM_002906.4(RDX):c.*1313G>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302312	NM_002906.4(RDX):c.1285_1290dup	RDX	Duplication (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 302311	NM_002906.4(RDX):c.1288_1291del	RDX	Deletion (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 302310	NM_002906.4(RDX):c.1290_1291del	RDX	Deletion (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 302309	NM_002906.4(RDX):c.*1291del	RDX	Deletion (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 302320	NM_002906.4(RDX):c.1289_1290insGTGTGC	RDX	Insertion (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 302319	NM_002906.4(RDX):c.*1260GT[19]	RDX	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 302318	NM_002906.4(RDX):c.*1260GT[18]	RDX	Microsatellite (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 302317	NM_002906.4(RDX):c.1285_1289TG[2]TTTGTGT[1]	RDX	Microsatellite (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 302316	NM_002906.4(RDX):c.*1260GT[17]	RDX	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 302315	NM_002906.4(RDX):c.*1290A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302314	NM_002906.4(RDX):c.1285_1290del	RDX	Deletion (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 302313	NM_002906.4(RDX):c.1289_1290del	RDX	Deletion (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 302322	NM_002906.4(RDX):c.*1260GT[12]	RDX	Microsatellite (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GLikely benign
Select item 302321	NM_002906.4(RDX):c.*1260GT[14]	RDX	Microsatellite (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive +1 more	GUncertain significance
Select item 302323	NM_002906.4(RDX):c.1287_1288insTTGT	RDX	Insertion (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 302324	NM_002906.4(RDX):c.*1284G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879967	NM_002906.4(RDX):c.*1264G>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302325	NM_002906.4(RDX):c.1258_1263del	RDX	Deletion (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 302326	NM_002906.4(RDX):c.*1248GA[4]	RDX	Microsatellite (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 302327	NM_002906.4(RDX):c.*1251A>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302329	NM_002906.4(RDX):c.*1234GA[4]	RDX	Microsatellite (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 302328	NM_002906.4(RDX):c.*1234GA[5]	RDX	Microsatellite (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 879968	NM_002906.4(RDX):c.*1215G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879969	NM_002906.4(RDX):c.*1201A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302330	NM_002906.4(RDX):c.*1173A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 877175	NM_002906.4(RDX):c.*1143G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302331	NM_002906.4(RDX):c.*1083G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302332	NM_002906.4(RDX):c.*1058G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302333	NM_002906.4(RDX):c.*923del	RDX	Deletion (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GLikely benign
Select item 302334	NM_002906.4(RDX):c.*885G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 877176	NM_002906.4(RDX):c.*855T>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302335	NM_002906.4(RDX):c.*800C>T	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 877177	NM_002906.4(RDX):c.*762C>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 877178	NM_002906.4(RDX):c.*740C>T	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302336	NM_002906.4(RDX):c.722_724del	RDX	Deletion (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 302337	NM_002906.4(RDX):c.523_524del	RDX	Deletion (3 prime UTR variant +1 more)	Hearing loss, autosomal recessive	GLikely benign
Select item 878213	NM_002906.4(RDX):c.*474A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302338	NM_002906.4(RDX):c.*463A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302339	NM_002906.4(RDX):c.*429G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878214	NM_002906.4(RDX):c.*414A>T	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878215	NM_002906.4(RDX):c.*302C>T	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302340	NM_002906.4(RDX):c.*156A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302341	NM_002906.4(RDX):c.*79A>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24 +1 more	GUncertain significance
Select item 13184	NM_002906.4(RDX):c.1732G>A (p.Asp578Asn)	RDX (D578N +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 24	GPathogenic
Select item 667319	NM_002906.4(RDX):c.1729A>G (p.Ile577Val)	RDX (I441V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 666744	NM_002906.4(RDX):c.1707A>T (p.Arg569=)	RDX	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2271307	NM_002906.4(RDX):c.1706G>A (p.Arg569Gln)	RDX (R222Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1803398	NM_002906.4(RDX):c.1688A>G (p.Lys563Arg)	RDX (K159R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3058467	NM_002906.4(RDX):c.1588-7dup	RDX	Duplication (intron variant)	RDX-related disorder	GLikely benign
Select item 1669590	NM_002906.4(RDX):c.1588-16T>C	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234006	NM_002906.4(RDX):c.1587+173C>T	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270883	NM_002906.4(RDX):c.1587+38T>G	RDX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 878216	NM_002906.4(RDX):c.1577A>G (p.Lys526Arg)	RDX (K390R +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 1703468	NM_002906.4(RDX):c.1568G>A (p.Arg523His)	RDX (R176H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3075837	NM_002906.4(RDX):c.1557G>C (p.Gln519His)	RDX (Q172H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 760742	NM_002906.4(RDX):c.1551A>G (p.Glu517=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 227899	NM_002906.4(RDX):c.1548C>T (p.Thr516=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 879661	NM_002906.4(RDX):c.1547C>T (p.Thr516Ile)	RDX (T169I +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 3152810	NM_002906.4(RDX):c.1543G>A (p.Val515Ile)	RDX (V168I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 302342	NM_002906.4(RDX):c.1530C>T (p.Ser510=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2501372	NM_002906.4(RDX):c.1522C>T (p.His508Tyr)	RDX (H161Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 761724	NM_002906.4(RDX):c.1515A>G (p.Val505=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 302343	NM_002906.4(RDX):c.1504A>G (p.Asn502Asp)	RDX (N502D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2428636	NM_002906.4(RDX):c.1501T>C (p.Ser501Pro)	RDX (S154P +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 1421978	NM_002906.4(RDX):c.1497A>T (p.Glu499Asp)	RDX (E152D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 879662	NM_002906.4(RDX):c.1495G>C (p.Glu499Gln)	RDX (E499Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 44638	NM_002906.4(RDX):c.1487C>T (p.Ala496Val)	RDX (A496V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1914263	NM_002906.4(RDX):c.1473G>A (p.Glu491=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 44637	NM_002906.4(RDX):c.1468G>A (p.Asp490Asn)	RDX (D490N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1915154	NM_002906.4(RDX):c.1452C>T (p.Asn484=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1388586	NM_002906.4(RDX):c.1421C>T (p.Pro474Leu)	RDX (P474L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2038747	NM_002906.4(RDX):c.1417C>T (p.Pro473Ser)	RDX (P337S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 517301	NM_002906.4(RDX):c.1413T>C (p.Pro471=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3075836	NM_002906.4(RDX):c.1412C>A (p.Pro471His)	RDX (P124H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 302344	NM_002906.4(RDX):c.1411C>G (p.Pro471Ala)	RDX (P471A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 290799	NM_002906.4(RDX):c.1411C>T (p.Pro471Ser)	RDX (P471S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1942867	NM_002906.4(RDX):c.1410C>T (p.Pro470=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1193938	NM_002906.4(RDX):c.1410C>G (p.Pro470=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 179346	NM_002906.4(RDX):c.1410C>A (p.Pro470=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign

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