"GeneDx"[submitter] AND "WHRN"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 167

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 152172	GRCh38/hg38 9q32(chr9:114193726-114677465)x3	AKNA, ATP6V1G1 +32 more	Copy number gain	See cases	GBenign
Select item 58482	GRCh38/hg38 9q32(chr9:114270395-114677524)x3	AKNA, ATP6V1G1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 976567	NM_015404.4(WHRN):c.*51C>T	WHRN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 31 +2 more	GConflicting classifications of pathogenicity
Select item 364678	NM_015404.4(WHRN):c.*37C>G	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +2 more	GConflicting classifications of pathogenicity
Select item 1723548	NM_015404.4(WHRN):c.2701A>C (p.Thr901Pro)	WHRN (T518P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 680230	NM_015404.4(WHRN):c.2655C>T (p.Ala885=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 194094	NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser)	WHRN (R882S +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 180119	NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys)	WHRN (R882C +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3367501	NM_015404.4(WHRN):c.2632C>T (p.Arg878Trp)	WHRN (R495W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206779	NM_015404.4(WHRN):c.2611A>G (p.Thr871Ala)	WHRN (T488A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45676	NM_015404.4(WHRN):c.2586C>A (p.His862Gln)	WHRN (H862Q +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1194454	NM_015404.4(WHRN):c.2541+134C>T	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 228563	NM_015404.4(WHRN):c.2510G>A (p.Arg837His)	WHRN (R837H +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1004539	NM_015404.4(WHRN):c.2492A>G (p.Glu831Gly)	WHRN (E448G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511701	NM_015404.4(WHRN):c.2484C>T (p.Ile828=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1214527	NM_015404.4(WHRN):c.2474C>G (p.Thr825Ser)	WHRN (T442S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1411531	NM_015404.4(WHRN):c.2453G>A (p.Arg818His)	WHRN (R435H +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 45675	NM_015404.4(WHRN):c.2439G>A (p.Thr813=)	WHRN	Single nucleotide variant (synonymous variant)	Usher syndrome type 2D +3 more	GConflicting classifications of pathogenicity
Select item 913952	NM_015404.4(WHRN):c.2438C>T (p.Thr813Met)	WHRN (T813M +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +2 more	GConflicting classifications of pathogenicity
Select item 1243163	NM_015404.4(WHRN):c.2419-118G>A	WHRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678779	NM_015404.4(WHRN):c.2418+142A>G	WHRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 228562	NM_015404.4(WHRN):c.2417C>T (p.Pro806Leu)	WHRN (P806L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 863128	NM_015404.4(WHRN):c.2390A>G (p.Glu797Gly)	WHRN (E414G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45674	NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys)	WHRN (N796K +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 666782	NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln)	WHRN (R412Q +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 31 +3 more	GConflicting classifications of pathogenicity
Select item 45673	NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile)	WHRN (T785I +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +3 more	GConflicting classifications of pathogenicity
Select item 2581947	NM_015404.4(WHRN):c.2351C>G (p.Ser784Cys)	WHRN (S401C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45672	NM_015404.4(WHRN):c.2348T>C (p.Val783Ala)	WHRN (V783A +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +3 more	GBenign
Select item 227292	NM_015404.4(WHRN):c.2322C>T (p.Ser774=)	WHRN	Single nucleotide variant (synonymous variant)	Usher syndrome type 2D +3 more	GConflicting classifications of pathogenicity
Select item 834614	NM_015404.4(WHRN):c.2309A>T (p.Glu770Val)	WHRN (E419V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1404420	NM_015404.4(WHRN):c.2299G>T (p.Asp767Tyr)	WHRN (D416Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45669	NM_015404.4(WHRN):c.2283C>T (p.Ser761=)	WHRN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1297206	NM_015404.4(WHRN):c.2247G>A (p.Thr749=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 836406	NM_015404.4(WHRN):c.2246C>T (p.Thr749Met)	WHRN (T398M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193718	NM_015404.4(WHRN):c.2237-10C>G	WHRN	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 678811	NM_015404.4(WHRN):c.2237-190T>C	WHRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180085	NM_015404.4(WHRN):c.2236+84G>T	WHRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422236	NM_015404.4(WHRN):c.2219C>T (p.Ala740Val)	WHRN (A740V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329696	NM_015404.4(WHRN):c.2189A>G (p.Asp730Gly)	WHRN (D347G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95700	NM_015404.4(WHRN):c.2183G>A (p.Arg728His)	WHRN (R728H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 199138	NM_015404.4(WHRN):c.2112G>T (p.Leu704=)	WHRN	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 286296	NM_015404.4(WHRN):c.2101G>C (p.Gly701Arg)	WHRN (G701R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 761958	NM_015404.4(WHRN):c.2093T>A (p.Val698Glu)	WHRN (V698E +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 180026	NM_015404.4(WHRN):c.2060C>T (p.Pro687Leu)	WHRN (P687L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 45666	NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr)	WHRN (P686T +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +3 more	GUncertain significance
Select item 45665	NM_015404.4(WHRN):c.2046G>C (p.Arg682=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 203387	NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg)	WHRN (P676R +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 850354	NM_015404.4(WHRN):c.1999G>A (p.Ala667Thr)	WHRN (A316T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 178336	NM_015404.4(WHRN):c.1992G>A (p.Pro664=)	WHRN	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1301305	NM_015404.4(WHRN):c.1930G>C (p.Asp644His)	WHRN (D261H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227290	NM_015404.4(WHRN):c.1887G>A (p.Pro629=)	WHRN	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 31 +3 more	GConflicting classifications of pathogenicity
Select item 1215270	NM_015404.4(WHRN):c.1870C>T (p.Pro624Ser)	WHRN (P241S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 598318	NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu)	WHRN (S617L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 45663	NM_015404.4(WHRN):c.1838T>C (p.Met613Thr)	WHRN (M613T +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +3 more	GBenign
Select item 1315461	NM_015404.4(WHRN):c.1810A>G (p.Arg604Gly)	WHRN (R221G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 953120	NM_015404.4(WHRN):c.1766C>T (p.Ala589Val)	WHRN (A238V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597785	NM_015404.4(WHRN):c.1757C>T (p.Pro586Leu)	WHRN (P586L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227287	NM_015404.4(WHRN):c.1716C>T (p.Thr572=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1197081	NM_015404.4(WHRN):c.1713C>T (p.Ser571=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 678778	NM_015404.4(WHRN):c.1699-128T>C	WHRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213066	NM_015404.4(WHRN):c.1699-178G>A	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671523	NM_015404.4(WHRN):c.1698+292G>T	WHRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671522	NM_015404.4(WHRN):c.1698+253_1698+254insTGACTT	WHRN	Insertion (intron variant)	not provided	GBenign
Select item 45661	NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala)	WHRN (P562A +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +4 more	GBenign
Select item 163048	NM_015404.4(WHRN):c.1627-5T>A	WHRN	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2507255	NM_015404.4(WHRN):c.1627-10C>A	WHRN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 45660	NM_015404.4(WHRN):c.1627-12G>A	WHRN	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1258464	NM_015404.4(WHRN):c.1626+287del	WHRN	Deletion (intron variant)	not provided	GBenign
Select item 678777	NM_015404.4(WHRN):c.1626+199T>C	WHRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2575779	NM_015404.4(WHRN):c.1619C>T (p.Ser540Leu)	WHRN (S157L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 505561	NM_015404.4(WHRN):c.1611C>T (p.Thr537=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 45658	NM_015404.4(WHRN):c.1608C>G (p.Thr536=)	WHRN	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 850353	NM_015404.4(WHRN):c.1597G>A (p.Gly533Ser)	WHRN (G150S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519244	NM_015404.4(WHRN):c.1591A>C (p.Ser531Arg)	WHRN (S148R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578149	NM_015404.4(WHRN):c.1577G>C (p.Gly526Ala)	WHRN (G143A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804740	NM_015404.4(WHRN):c.1568G>A (p.Ser523Asn)	WHRN (S140N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 736850	NM_015404.4(WHRN):c.1533C>T (p.Pro511=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 45655	NM_015404.4(WHRN):c.1515G>A (p.Ala505=)	WHRN	Single nucleotide variant (synonymous variant)	Usher syndrome type 2D +3 more	GBenign/Likely benign
Select item 1167951	NM_015404.4(WHRN):c.1486C>T (p.Leu496=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 287879	NM_015404.4(WHRN):c.1455G>A (p.Pro485=)	WHRN	Single nucleotide variant (synonymous variant)	Usher syndrome type 2D +3 more	GConflicting classifications of pathogenicity
Select item 45654	NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu)	WHRN (P485L +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 678809	NM_015404.4(WHRN):c.1417-224A>G	WHRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678808	NM_015404.4(WHRN):c.1416+151A>G	WHRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230190	NM_015404.4(WHRN):c.1416+22A>T	WHRN	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 31 +1 more	GBenign
Select item 504565	NM_015404.4(WHRN):c.1381A>C (p.Met461Leu)	WHRN (M461L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 31 +3 more	GUncertain significance
Select item 364688	NM_015404.4(WHRN):c.1378G>A (p.Val460Ile)	WHRN (V460I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 31 +2 more	GUncertain significance
Select item 45652	NM_015404.4(WHRN):c.1365T>C (p.Ser455=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 45650	NM_015404.4(WHRN):c.1353T>C (p.Gly451=)	WHRN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 45649	NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp)	WHRN (G451D +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 45648	NM_015404.4(WHRN):c.1349G>A (p.Arg450His)	WHRN (R450H +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +3 more	GConflicting classifications of pathogenicity
Select item 45647	NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr)	WHRN (A440T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 31 +4 more	GBenign
Select item 364691	NM_015404.4(WHRN):c.1305C>T (p.Asn435=)	WHRN	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 31 +3 more	GConflicting classifications of pathogenicity
Select item 163050	NM_015404.4(WHRN):c.1222C>A (p.Pro408Thr)	WHRN (P408T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1212062	NM_015404.4(WHRN):c.1204-33G>A	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185826	NM_015404.4(WHRN):c.1203+20_1203+21dup	WHRN	Duplication (intron variant)	not provided	GLikely benign
Select item 2581852	NM_015404.4(WHRN):c.1203+2T>C	WHRN	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 45643	NM_015404.4(WHRN):c.1176C>T (p.Gly392=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 679519	NM_015404.4(WHRN):c.1167-90G>A	WHRN	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1261910	NM_015404.4(WHRN):c.1167-264G>A	WHRN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

<< First< Prev

Page of 2