"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 179975	NM_015404.4(WHRN):c.2722T>C (p.Ter908Gln)	WHRN	Single nucleotide variant (stop lost)	Usher syndrome type 2D +3 more	GUncertain significance
Select item 667361	NM_015404.4(WHRN):c.2645G>A (p.Arg882His)	WHRN (R531H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 505112	NM_015404.4(WHRN):c.2621G>C (p.Gly874Ala)	WHRN (G874A +3 more)	Single nucleotide variant (missense variant)	not specified	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 179365	NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter)	WHRN (Q857* +3 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 228563	NM_015404.4(WHRN):c.2510G>A (p.Arg837His)	WHRN (R837H +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +3 more	GUncertain significance
Select item 666784	NM_015404.4(WHRN):c.2455G>A (p.Val819Met)	WHRN (V819M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 228552	NM_015404.4(WHRN):c.2418+3G>A	WHRN	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 228562	NM_015404.4(WHRN):c.2417C>T (p.Pro806Leu)	WHRN (P806L +3 more)	Single nucleotide variant (missense variant)	not specified +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 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 504993	NM_015404.4(WHRN):c.2364G>T (p.Arg788Ser)	WHRN (R788S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 45673	NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile)	WHRN (T785I +3 more)	Single nucleotide variant (missense variant)	not specified +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)	Usher syndrome type 2D +3 more	GBenign
Select item 179878	NM_015404.4(WHRN):c.2333G>A (p.Arg778Gln)	WHRN (R778Q +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 45670	NM_015404.4(WHRN):c.2293G>C (p.Gly765Arg)	WHRN (G765R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 930021	NM_015404.4(WHRN):c.2284G>A (p.Glu762Lys)	WHRN (E379K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 177749	NM_015404.4(WHRN):c.2256G>C (p.Gln752His)	WHRN (Q752H +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 163045	NM_015404.4(WHRN):c.2256= (p.Gln752=)	WHRN	Single nucleotide variant (no sequence alteration)	not provided +2 more	GBenign
Select item 199137	NM_015404.4(WHRN):c.2203G>A (p.Val735Ile)	WHRN (V735I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 227291	NM_015404.4(WHRN):c.2193C>T (p.Ser731=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 45667	NM_015404.4(WHRN):c.2085G>A (p.Glu695=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 506032	NM_015404.4(WHRN):c.2073C>T (p.Ser691=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 228561	NM_015404.4(WHRN):c.2029A>G (p.Ile677Val)	WHRN (I677V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 227289	NM_015404.4(WHRN):c.1833C>T (p.Ser611=)	WHRN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 227288	NM_015404.4(WHRN):c.1824G>A (p.Gln608=)	WHRN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 666785	NM_015404.4(WHRN):c.1725G>A (p.Gly575=)	WHRN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 45662	NM_015404.4(WHRN):c.1696G>C (p.Val566Leu)	WHRN (V566L +2 more)	Single nucleotide variant (missense variant)	not specified +1 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)	Usher syndrome type 2D +4 more	GBenign
Select item 163047	NM_015404.4(WHRN):c.1678G>A (p.Ala560Thr)	WHRN (A560T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 666783	NM_015404.4(WHRN):c.1677C>T (p.Asn559=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
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 45660	NM_015404.4(WHRN):c.1627-12G>A	WHRN	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 179503	NM_015404.4(WHRN):c.1626+9C>A	WHRN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 45659	NM_015404.4(WHRN):c.1625G>A (p.Arg542Lys)	WHRN (R542K +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 506034	NM_015404.4(WHRN):c.1596C>T (p.His532=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 45657	NM_015404.4(WHRN):c.1578T>C (p.Gly526=)	WHRN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 228560	NM_015404.4(WHRN):c.1547C>T (p.Thr516Ile)	WHRN (T516I +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 45656	NM_015404.4(WHRN):c.1542G>A (p.Gly514=)	WHRN	Single nucleotide variant (synonymous variant)	not specified	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 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 45653	NM_015404.4(WHRN):c.1417-8G>A	WHRN	Single nucleotide variant (intron variant)	not specified +1 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 provided +3 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 45651	NM_015404.4(WHRN):c.1360G>A (p.Val454Ile)	WHRN (V454I +2 more)	Single nucleotide variant (missense variant)	not specified +1 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)	not provided +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 45646	NM_015404.4(WHRN):c.1291C>T (p.Arg431Trp)	WHRN (R431W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 45645	NM_015404.4(WHRN):c.1267C>T (p.Arg423Ter)	WHRN (R423* +2 more)	Single nucleotide variant (nonsense)	Rare genetic deafness	GPathogenic
Select item 517611	NM_015404.4(WHRN):c.1251C>T (p.Ser417=)	WHRN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 45643	NM_015404.4(WHRN):c.1176C>T (p.Gly392=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 45637	NM_015404.4(WHRN):c.1158C>G (p.Asn386Lys)	WHRN (N386K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 45642	NM_015404.4(WHRN):c.1149C>T (p.Thr383=)	WHRN	Single nucleotide variant (5 prime UTR variant +1 more)	Usher syndrome type 2D +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)	Usher syndrome type 2D +3 more	GConflicting classifications of pathogenicity
Select item 506241	NM_015404.4(WHRN):c.1126G>T (p.Ala376Ser)	WHRN (A376S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 177752	NM_015404.4(WHRN):c.1091A>G (p.His364Arg)	WHRN (H364R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 45640	NM_015404.4(WHRN):c.1091= (p.His364=)	WHRN	Single nucleotide variant (no sequence alteration)	not provided +2 more	GBenign
Select item 288922	NM_015404.4(WHRN):c.1075G>A (p.Val359Ile)	WHRN (V359I)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 31 +3 more	GConflicting classifications of pathogenicity
Select item 178337	NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp)	WHRN (R350W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 228568	NM_015404.4(WHRN):c.998G>A (p.Ser333Asn)	WHRN (S333N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 227295	NM_015404.4(WHRN):c.995G>A (p.Arg332Gln)	WHRN (R332Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 178338	NM_015404.4(WHRN):c.955G>T (p.Gly319Trp)	WHRN (G319W)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 31 +3 more	GUncertain significance
Select item 228566	NM_015404.4(WHRN):c.943G>C (p.Ala315Pro)	WHRN (A315P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GUncertain significance
Select item 667360	NM_015404.4(WHRN):c.914A>G (p.Tyr305Cys)	WHRN (Y305C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 45683	NM_015404.4(WHRN):c.764G>A (p.Gly255Asp)	WHRN (G255D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 45682	NM_015404.4(WHRN):c.744G>A (p.Ser248=)	WHRN	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 179786	NM_015404.4(WHRN):c.725G>A (p.Arg242His)	WHRN (R242H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 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)	Autosomal recessive nonsyndromic hearing loss 31 +3 more	GConflicting classifications of pathogenicity
Select item 163055	NM_015404.4(WHRN):c.676G>C (p.Gly226Arg)	WHRN (G226R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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)	Usher syndrome type 2D +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 provided +3 more	GConflicting classifications of pathogenicity
Select item 45679	NM_015404.4(WHRN):c.643del (p.Val215fs)	WHRN (V215fs)	Deletion (5 prime UTR variant +1 more)	Rare genetic deafness	GPathogenic
Select item 517249	NM_015404.4(WHRN):c.640C>G (p.Leu214Val)	WHRN (L214V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 45678	NM_015404.4(WHRN):c.619G>T (p.Ala207Ser)	WHRN (A207S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 163056	NM_015404.4(WHRN):c.427T>C (p.Leu143=)	WHRN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 179995	NM_015404.4(WHRN):c.409G>C (p.Glu137Gln)	WHRN (E137Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1018742	NM_015404.4(WHRN):c.376G>A (p.Ala126Thr)	WHRN (A126T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 178844	NM_015404.4(WHRN):c.328A>G (p.Thr110Ala)	WHRN (T110A)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 227293	NM_015404.4(WHRN):c.234G>A (p.Leu78=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign

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