C1832475[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 990558	NM_000260.4(MYO7A):c.132+6T>C	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +3 more	GUncertain significance
Select item 306156	NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu)	MYO7A (D75E +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GUncertain significance
Select item 554125	NM_000260.4(MYO7A):c.285+2T>G	MYO7A	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GPathogenic/Likely pathogenic
Select item 43228	NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)	MYO7A (H133Y +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 43244	NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)	MYO7A (R150Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 959009	NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter)	MYO7A (C154* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 1375177	NM_000260.4(MYO7A):c.569T>G (p.Leu190Trp)	MYO7A (L190W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GUncertain significance
Select item 43325	NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)	MYO7A (S211G +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 941135	NM_000260.4(MYO7A):c.638T>A (p.Phe213Tyr)	MYO7A (F213Y +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GUncertain significance
Select item 43327	NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)	MYO7A (G214R +1 more)	Single nucleotide variant (missense variant)	Rare genetic deafness +5 more	GPathogenic
Select item 43343	NM_000260.4(MYO7A):c.783T>C (p.Gly261=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GBenign
Select item 11852	NM_000260.4(MYO7A):c.905G>A (p.Arg302His)	MYO7A (R302H +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 43134	NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)	MYO7A (R336H +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 555138	NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)	MYO7A (R395C +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 553245	NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp)	MYO7A (A397D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GPathogenic/Likely pathogenic
Select item 553342	NM_000260.4(MYO7A):c.1403A>G (p.His468Arg)	MYO7A (H468R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GUncertain significance
Select item 957775	NM_000260.4(MYO7A):c.1690+3A>G	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +4 more	GUncertain significance
Select item 505864	NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg)	MYO7A (K605R +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 43160	NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)	MYO7A (R616W +1 more)	Single nucleotide variant (missense variant)	MYO7A-related disorder +5 more	GUncertain significance
Select item 882707	NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met)	MYO7A (T613M +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GUncertain significance
Select item 43164	NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)	MYO7A (R634* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1 +4 more	GPathogenic/Likely pathogenic
Select item 242392	NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp)	MYO7A (R657W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GPathogenic/Likely pathogenic
Select item 11860	NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)	MYO7A (R666* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GPathogenic
Select item 43169	NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)	MYO7A (R669* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1 +5 more	GPathogenic/Likely pathogenic
Select item 43170	NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile)	MYO7A (V679I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 43175	NM_000260.4(MYO7A):c.2187+1G>A	MYO7A	Single nucleotide variant (splice donor variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 551301	NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp)	MYO7A (R756W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1165972	NM_000260.4(MYO7A):c.2283-20C>T	MYO7A	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GBenign/Likely benign
Select item 229002	NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr)	MYO7A (A770T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 991222	NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro)	MYO7A (L778P +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1209585	NM_000260.4(MYO7A):c.2402A>C (p.His801Pro)	MYO7A (H790P +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 864445	NM_000260.4(MYO7A):c.2404C>T (p.Arg802Cys)	MYO7A (R791C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1052102	NM_000260.4(MYO7A):c.2431C>T (p.Arg811Cys)	MYO7A (R800C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GUncertain significance
Select item 177732	NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)	MYO7A (A826T +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 191024	NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)	MYO7A (R830H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 43185	NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)	MYO7A (V843M +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 43186	NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)	MYO7A (R853H +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 666885	NM_000260.4(MYO7A):c.2597G>A (p.Arg866His)	MYO7A (R866H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GUncertain significance
Select item 43189	NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln)	MYO7A (R873Q +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +5 more	GUncertain significance
Select item 966679	NM_000260.4(MYO7A):c.2717G>A (p.Arg906His)	MYO7A (R895H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GUncertain significance
Select item 177733	NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser)	MYO7A (G955S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 855092	NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter)	MYO7A (R972* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1 +3 more	GPathogenic/Likely pathogenic
Select item 501914	NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr)	MYO7A (I1045T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 560897	NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)	MYO7A (L1122I +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 43206	NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)	MYO7A (G1159V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +8 more	GPathogenic/Likely pathogenic
Select item 43207	NM_000260.4(MYO7A):c.3503+12_3503+33del	MYO7A	Deletion	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 43208	NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)	MYO7A (E1170K +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic
Select item 196099	NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)	MYO7A (S1176N +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 555608	NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter)	MYO7A (C1198* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 11 +2 more	GPathogenic
Select item 556065	NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr)	MYO7A (P1204T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1210435	NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala)	MYO7A (P1209A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +2 more	GUncertain significance
Select item 179208	NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu)	MYO7A (P1220L +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +4 more	GUncertain significance
Select item 551875	NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His)	MYO7A (R1230H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 43218	NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)	MYO7A (R1240Q +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +7 more	GPathogenic
Select item 372560	NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter)	MYO7A (Q1242* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 43220	NM_000260.4(MYO7A):c.3750+5G>A	MYO7A	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GUncertain significance
Select item 43223	NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)	MYO7A (K1244fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1 +4 more	GPathogenic/Likely pathogenic
Select item 517466	NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser)	MYO7A (G1315S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GUncertain significance
Select item 1065060	NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val)	MYO7A (M1309V +1 more)	Single nucleotide variant (missense variant)	Hearing impairment +3 more	GUncertain significance
Select item 962789	NM_000260.4(MYO7A):c.4003G>A (p.Ala1335Thr)	MYO7A (A1324T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 561263	NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter)	MYO7A (Q1336* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 306185	NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys)	MYO7A (R1347C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GConflicting classifications of pathogenicity
Select item 551138	NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)	MYO7A (R1373* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 178486	NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His)	MYO7A (D1399H +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 792434	NM_000260.4(MYO7A):c.4353C>T (p.Ala1451=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 43260	NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)	MYO7A (R1602Q +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +4 more	GBenign/Likely benign
Select item 991573	NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn)	MYO7A (T1625N +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 550924	NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn)	MYO7A (D1689N +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 178932	NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu)	MYO7A (Q1699E +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 43274	NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys)	MYO7A (Y1719C +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 658273	NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter)	MYO7A (R1690* +2 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 229007	NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln)	MYO7A (R1749Q +2 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 80 +5 more	GUncertain significance
Select item 1443412	NM_000260.4(MYO7A):c.5252C>T (p.Pro1751Leu)	MYO7A (P1702L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 952138	NM_000260.4(MYO7A):c.5300C>T (p.Ser1767Leu)	MYO7A (S1718L +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 43281	NM_000260.4(MYO7A):c.5355G>A (p.Pro1785=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1387794	NM_000260.4(MYO7A):c.5522C>T (p.Thr1841Met)	MYO7A (T1792M +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 43288	NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)	MYO7A (L1858P +2 more)	Single nucleotide variant (missense variant)	MYO7A-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 557045	NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)	MYO7A (R1861* +2 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 43292	NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)	MYO7A (R1873Q +2 more)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 504649	NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg)	MYO7A (G1881R +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1284616	NM_000260.4(MYO7A):c.5749G>A (p.Glu1917Lys)	MYO7A (E1868K +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GUncertain significance
Select item 43313	NM_000260.4(MYO7A):c.6025del (p.Ala2009fs)	MYO7A (A1971fs +2 more)	Deletion (frameshift variant)	Retinal dystrophy +5 more	GPathogenic
Select item 551533	NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)	MYO7A (D2010N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GPathogenic/Likely pathogenic
Select item 43318	NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)	MYO7A (R2024* +2 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1 +4 more	GPathogenic
Select item 550490	NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp)	MYO7A (R2079W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GUncertain significance
Select item 373321	NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln)	MYO7A (R2079Q +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +4 more	GUncertain significance
Select item 178496	NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)	MYO7A (A2083T +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +6 more	GConflicting classifications of pathogenicity
Select item 959330	NM_000260.4(MYO7A):c.6527G>A (p.Arg2176His)	MYO7A (R2176H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 306206	NM_000260.4(MYO7A):c.*208C>G	MYO7A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 2 +2 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 89