"Illumina Laboratory Services, Illumina"[submitter] AND "WHRN"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 129

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 364670	NM_015404.4(WHRN):c.*633T>C	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 915111	NM_015404.4(WHRN):c.*613A>G	WHRN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 31 +1 more	GUncertain significance
Select item 912413	NM_015404.4(WHRN):c.*583C>T	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 364671	NM_015404.4(WHRN):c.*554C>T	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 912414	NM_015404.4(WHRN):c.*495T>C	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 912415	NM_015404.4(WHRN):c.*438T>G	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GBenign
Select item 364672	NM_015404.4(WHRN):c.*357C>G	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 913530	NM_015404.4(WHRN):c.*339C>A	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 364673	NM_015404.4(WHRN):c.*325dup	WHRN	Duplication (3 prime UTR variant)	Retinitis pigmentosa-deafness syndrome +1 more	GUncertain significance
Select item 364674	NM_015404.4(WHRN):c.*188A>T	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 364675	NM_015404.4(WHRN):c.*187A>G	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 913909	NM_015404.4(WHRN):c.*175C>T	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 364676	NM_015404.4(WHRN):c.*156G>A	WHRN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 31 +1 more	GUncertain significance
Select item 364677	NM_015404.4(WHRN):c.*149A>G	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 913910	NM_015404.4(WHRN):c.*126C>A	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	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 976568	NM_015404.4(WHRN):c.*29T>G	WHRN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 31 +1 more	GUncertain significance
Select item 976569	NM_015404.4(WHRN):c.2690A>C (p.Asp897Ala)	WHRN (D514A +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 912450	NM_015404.4(WHRN):c.2665A>G (p.Lys889Glu)	WHRN (K889E +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 912451	NM_015404.4(WHRN):c.2653G>A (p.Ala885Thr)	WHRN (A884T +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 31 +2 more	GUncertain significance
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 912452	NM_015404.4(WHRN):c.2633G>A (p.Arg878Gln)	WHRN (R878Q +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +2 more	GUncertain significance
Select item 913568	NM_015404.4(WHRN):c.2612C>T (p.Thr871Met)	WHRN (T870M +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 31 +1 more	GUncertain significance
Select item 45676	NM_015404.4(WHRN):c.2586C>A (p.His862Gln)	WHRN (H862Q +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 913569	NM_015404.4(WHRN):c.2509C>T (p.Arg837Cys)	WHRN (R837C +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 45675	NM_015404.4(WHRN):c.2439G>A (p.Thr813=)	WHRN	Single nucleotide variant (synonymous variant)	not provided +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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 593108	NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala)	WHRN (P807A +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 31 +2 more	GUncertain significance
Select item 913953	NM_015404.4(WHRN):c.2419-5C>T	WHRN	Single nucleotide variant (intron variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 45674	NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys)	WHRN (N796K +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 666782	NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln)	WHRN (R412Q +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 364679	NM_015404.4(WHRN):c.2383C>T (p.Arg795Trp)	WHRN (R795W +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +2 more	GUncertain significance
Select item 364680	NM_015404.4(WHRN):c.2381C>T (p.Pro794Leu)	WHRN (P794L +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 45673	NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile)	WHRN (T785I +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 45672	NM_015404.4(WHRN):c.2348T>C (p.Val783Ala)	WHRN (V783A +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 632034	NM_015404.4(WHRN):c.2345C>A (p.Ser782Ter)	WHRN (S782* +3 more)	Single nucleotide variant (nonsense)	DFNB31-Related Disorders	GUncertain significance
Select item 227292	NM_015404.4(WHRN):c.2322C>T (p.Ser774=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 45669	NM_015404.4(WHRN):c.2283C>T (p.Ser761=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 364681	NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu)	WHRN (S754L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 364682	NM_015404.4(WHRN):c.2248C>G (p.Leu750Val)	WHRN (L750V +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +1 more	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 913999	NM_015404.4(WHRN):c.2234G>A (p.Arg745His)	WHRN (R362H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 914000	NM_015404.4(WHRN):c.2231C>T (p.Thr744Met)	WHRN (T744M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 364683	NM_015404.4(WHRN):c.2173G>C (p.Glu725Gln)	WHRN (E725Q +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 364684	NM_015404.4(WHRN):c.2130C>A (p.Gly710=)	WHRN	Single nucleotide variant (synonymous variant)	WHRN-related condition +2 more	GConflicting classifications of pathogenicity
Select item 45666	NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr)	WHRN (P686T +2 more)	Single nucleotide variant (missense variant)	not specified +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)	WHRN-related condition +5 more	GConflicting classifications of pathogenicity
Select item 178336	NM_015404.4(WHRN):c.1992G>A (p.Pro664=)	WHRN	Single nucleotide variant (synonymous variant)	WHRN-related condition +4 more	GConflicting classifications of pathogenicity
Select item 912538	NM_015404.4(WHRN):c.1929G>A (p.Gln643=)	WHRN	Single nucleotide variant (synonymous variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 912539	NM_015404.4(WHRN):c.1909C>A (p.Pro637Thr)	WHRN (P254T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 31 +2 more	GUncertain significance
Select item 364685	NM_015404.4(WHRN):c.1892C>T (p.Ala631Val)	WHRN (A631V +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +2 more	GUncertain significance
Select item 227290	NM_015404.4(WHRN):c.1887G>A (p.Pro629=)	WHRN	Single nucleotide variant (synonymous variant)	WHRN-related condition +4 more	GConflicting classifications of pathogenicity
Select item 45663	NM_015404.4(WHRN):c.1838T>C (p.Met613Thr)	WHRN (M613T +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
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 45661	NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala)	WHRN (P562A +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 364686	NM_015404.4(WHRN):c.1683C>T (p.Leu561=)	WHRN	Single nucleotide variant (synonymous variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 163048	NM_015404.4(WHRN):c.1627-5T>A	WHRN	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 914043	NM_015404.4(WHRN):c.1627-7T>G	WHRN	Single nucleotide variant (intron variant)	Usher syndrome type 2D +1 more	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 364687	NM_015404.4(WHRN):c.1626+8T>G	WHRN	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 914552	NM_015404.4(WHRN):c.1555A>G (p.Met519Val)	WHRN (M136V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 45655	NM_015404.4(WHRN):c.1515G>A (p.Ala505=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 287879	NM_015404.4(WHRN):c.1455G>A (p.Pro485=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +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 912586	NM_015404.4(WHRN):c.1389G>T (p.Leu463=)	WHRN	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 31 +2 more	GConflicting classifications of pathogenicity
Select item 504565	NM_015404.4(WHRN):c.1381A>C (p.Met461Leu)	WHRN (M461L +2 more)	Single nucleotide variant (missense variant)	not specified +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 specified +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 364689	NM_015404.4(WHRN):c.1351G>C (p.Gly451Arg)	WHRN (G451R +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 45648	NM_015404.4(WHRN):c.1349G>A (p.Arg450His)	WHRN (R450H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 364690	NM_015404.4(WHRN):c.1331A>G (p.Tyr444Cys)	WHRN (Y444C +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +2 more	GUncertain significance
Select item 45647	NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr)	WHRN (A440T +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa-deafness syndrome +4 more	GBenign
Select item 364691	NM_015404.4(WHRN):c.1305C>T (p.Asn435=)	WHRN	Single nucleotide variant (synonymous variant)	Usher syndrome type 2D +3 more	GConflicting classifications of pathogenicity
Select item 364692	NM_015404.4(WHRN):c.1227C>T (p.Ala409=)	WHRN	Single nucleotide variant (synonymous variant)	Usher syndrome type 2D +2 more	GConflicting classifications of pathogenicity
Select item 914596	NM_015404.4(WHRN):c.1166G>A (p.Gly389Glu)	WHRN (G6E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 364693	NM_015404.4(WHRN):c.1161G>A (p.Ser387=)	WHRN	Single nucleotide variant (synonymous variant)	Usher syndrome type 2D +2 more	GConflicting classifications of pathogenicity
Select item 364694	NM_015404.4(WHRN):c.1160C>T (p.Ser387Leu)	WHRN (S387L +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 45642	NM_015404.4(WHRN):c.1149C>T (p.Thr383=)	WHRN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 163051	NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn)	WHRN (T383N)	Single nucleotide variant (5 prime UTR variant +1 more)	Hearing impairment +4 more	GUncertain significance
Select item 45641	NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)	WHRN (R379W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 288922	NM_015404.4(WHRN):c.1075G>A (p.Val359Ile)	WHRN (V359I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 913731	NM_015404.4(WHRN):c.1072G>A (p.Asp358Asn)	WHRN (D358N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 364695	NM_015404.4(WHRN):c.1014A>G (p.Leu338=)	WHRN	Single nucleotide variant (5 prime UTR variant +1 more)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 811003	NM_015404.4(WHRN):c.958C>T (p.Leu320Phe)	WHRN (L320F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 178338	NM_015404.4(WHRN):c.955G>T (p.Gly319Trp)	WHRN (G319W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GUncertain significance
Select item 289015	NM_015404.4(WHRN):c.933A>C (p.Pro311=)	WHRN	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 364696	NM_015404.4(WHRN):c.837+5G>C	WHRN	Single nucleotide variant (intron variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 914631	NM_015404.4(WHRN):c.762C>T (p.His254=)	WHRN	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 31 +3 more	GConflicting classifications of pathogenicity
Select item 914632	NM_015404.4(WHRN):c.695A>C (p.His232Pro)	WHRN (H232P)	Single nucleotide variant (5 prime UTR variant +1 more)	Usher syndrome type 2D +2 more	GUncertain significance
Select item 364697	NM_015404.4(WHRN):c.690C>T (p.Thr230=)	WHRN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 912671	NM_015404.4(WHRN):c.684C>T (p.Tyr228=)	WHRN	Single nucleotide variant (5 prime UTR variant +1 more)	Usher syndrome type 2D +2 more	GConflicting classifications of pathogenicity
Select item 912672	NM_015404.4(WHRN):c.680G>T (p.Gly227Val)	WHRN (G227V)	Single nucleotide variant (5 prime UTR variant +1 more)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 45681	NM_015404.4(WHRN):c.668G>A (p.Arg223His)	WHRN (R223H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 45680	NM_015404.4(WHRN):c.667C>T (p.Arg223Cys)	WHRN (R223C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 364698	NM_015404.4(WHRN):c.549G>A (p.Arg183=)	WHRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2